# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.2.0 (Jul 27, 2026)
# GENERATED-ON: 2026/08/15
# PURPOSE: annotations about active Dog objects extracted from RGD database
# ONTOLOGY: RDO: RGD Disease Ontology
# CONTACT: rgd.data@mcw.edu
# FORMAT: tab delimited text
# NOTES: multiple values in a single column are separated by '|'
#
# MIGRATION NOTE (July 2026): these files were previously located in the
#   'annotated_rgd_objects_by_ontology/with_terms' directory and named using the organism
#   genus (f.e. 'rattus_terms_go'). They are now located in the 'annotations/with_terms' directory,
#   named with the RGD species short name (f.e. 'rat_terms_go.txt.gz'), and gzip-compressed.
#
#COLUMN INFORMATION:
#
#1   RGD_ID	          unique RGD_ID of the annotated object
#2   OBJECT_SYMBOL      official symbol of the annotated object
#3   OBJECT_NAME        official name of the annotated object
#4   OBJECT_TYPE        annotated object data type: one of ['gene','qtl','strain']
#5   TERM_ACC_ID        ontology term accession id
#6   TERM_NAME          ontology term name
#7   QUALIFIER          optional qualifier
#8   EVIDENCE           evidence
#9   WITH               with info
#10  ASPECT             aspect
#11  REFERENCES         db references (Reference RGDID|PUBMED ID)
#12  CREATED_DATE       created date
#13  ASSIGNED_BY        assigned by
#14  MESH_OMIM_ID       MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only)
#15  CURATION_NOTES     curation notes provided by RGD curators
#16  ORIGINAL_REFERENCE original reference
RGD_ID	OBJECT_SYMBOL	OBJECT_NAME	OBJECT_TYPE	TERM_ACC_ID	TERM_NAME	QUALIFIER	EVIDENCE	WITH	ASPECT	REFERENCES	CREATED_DATE	ASSIGNED_BY	MESH_OMIM_ID	CURATION_NOTES	ORIGINAL_REFERENCE
12050156	ARSA	arylsulfatase A	gene	DOID:0060135	apraxia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:0080855	Parkinsonism		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:10579	leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:28762252|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:7240710	20180130	OMIM			
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34490615|PMID:34554397|PMID:36240581|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20220177|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29899471|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:32950023|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33505345|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37381728|PMID:37480112|PMID:37597066|PMID:37848385|PMID:38458124|PMID:38775997|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9375919|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20220177|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29899471|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:32950023|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33505345|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:36240581|PMID:36324388|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:37848385|PMID:38458124|PMID:38775997|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9375919|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Deficiency, Arylsulfatase A | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, ADULT | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, JUVENILE | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, SEVERE | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type	PMID:10212197|PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12086582|PMID:12445909|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1673291|PMID:1678251|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25482214|PMID:25741868|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26075876|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29915382|PMID:29966168|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31418856|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32875726|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33726816|PMID:33855715|PMID:34055681|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:35857900|PMID:36100438|PMID:36240581|PMID:36324388|PMID:36918699|PMID:37212343|PMID:37267771|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:38330194|PMID:38564053|PMID:38693247|PMID:38775997|PMID:38837156|PMID:38916435|PMID:39473378|PMID:39766783|PMID:39806039|PMID:40055237|PMID:40063902|PMID:40751594|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7860068|PMID:7866401|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARSA DEFICIENCY | ClinVar Annotator: match by term: ARYLSULFATASE A PSEUDODEFICIENCY | ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Deficiency, Arylsulfatase A | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, ADULT | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, JUVENILE | ClinVar Annotator: match by term: METACHROMATIC LEUKODYSTROPHY, SEVERE | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type	PMID:10212197|PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1673291|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25482214|PMID:25525159|PMID:25741868|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26075876|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29915382|PMID:29966168|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33726816|PMID:33855715|PMID:34055681|PMID:34276053|PMID:34490615|PMID:34554397|PMID:35616356|PMID:35857900|PMID:36100438|PMID:36240581|PMID:36324388|PMID:36918699|PMID:37212343|PMID:37267771|PMID:37359369|PMID:37381728|PMID:37480112|PMID:37597066|PMID:38330194|PMID:38495240|PMID:38564053|PMID:38693247|PMID:38775997|PMID:38837156|PMID:38916435|PMID:39473378|PMID:39766783|PMID:39806039|PMID:40055237|PMID:40063902|PMID:40751594|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7860068|PMID:7866401|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:1059	intellectual disability		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:10907	microcephaly		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868|PMID:28492532|PMID:28799099|PMID:35616356|PMID:37359369
12050156	ARSA	arylsulfatase A	gene	DOID:1115	sarcoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050156	ARSA	arylsulfatase A	gene	DOID:11830	myopia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:15026521|PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:1459	hypothyroidism		ISO	RGD:1310381	D	RGD:9068941	20200609	RGD			PMID:7901316|REF_RGD_ID:1599223
12050156	ARSA	arylsulfatase A	gene	DOID:1826	epilepsy		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:28799099|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:35616356|PMID:36100438|PMID:36240581|PMID:37212343|PMID:37359369|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:1909	melanoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050156	ARSA	arylsulfatase A	gene	DOID:1969	cerebral palsy		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:16678723|PMID:17560502|PMID:19815439|PMID:26462614|PMID:28492532|PMID:7866401
12050156	ARSA	arylsulfatase A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12050156	ARSA	arylsulfatase A	gene	DOID:4362	cervical cancer		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050156	ARSA	arylsulfatase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:630	genetic disease		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:870	neuropathy		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532|PMID:28762252|PMID:9090526
12050156	ARSA	arylsulfatase A	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:15026521|PMID:25741868|PMID:28492532|PMID:28762252|PMID:9090526
12050156	ARSA	arylsulfatase A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
12050156	ARSA	arylsulfatase A	gene	DOID:9003507	Premature Birth		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:15026521|PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:9004866	Ataxia		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:15026521|PMID:25741868|PMID:28492532
12050156	ARSA	arylsulfatase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050156	ARSA	arylsulfatase A	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
12050156	ARSA	arylsulfatase A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:28799099|PMID:35616356|PMID:37359369
12050156	ARSA	arylsulfatase A	gene	DOID:9007448	Autosomal Sideroblastic Anemia		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia	PMID:25741868|PMID:26553228|PMID:37597066
12050156	ARSA	arylsulfatase A	gene	DOID:9007661	Dwarfism		ISO	RGD:1321256	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10477432|PMID:10751093|PMID:12445909|PMID:12809638|PMID:1284530|PMID:15720392|PMID:16546179|PMID:16966551|PMID:25741868|PMID:25965562|PMID:28492532|PMID:8982952
12050156	ARSA	arylsulfatase A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11777924|PMID:11941485|PMID:1670590|PMID:20339381|PMID:25741868|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28492532|PMID:29915382|PMID:31186049|PMID:31967741|PMID:32632536|PMID:33855715|PMID:36100438|PMID:36240581|PMID:37212343|PMID:38330194|PMID:38564053|PMID:40751594|PMID:7866401|PMID:8095918|PMID:9090526|PMID:9096767
12050156	ARSA	arylsulfatase A	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715
12050156	ARSA	arylsulfatase A	gene	DOID:9256	colorectal cancer		ISO	RGD:1321256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0050425	restless legs syndrome		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735595	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:10283	prostate cancer		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:10283	prostate cancer		ISO	RGD:735595	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1059	intellectual disability		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities	PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1059	intellectual disability		ISO	RGD:735595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:24851285|PMID:25740509|PMID:25741868|PMID:26350204|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29383681|PMID:29655203|PMID:29852413|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31618753|PMID:33037390|PMID:33057194|PMID:34356170|PMID:34653234|PMID:37543906|PMID:40095209
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:10907	microcephaly		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1115	sarcoma		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:11830	myopia		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:11832	visual epilepsy		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:12849	autistic disorder		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16883520|PMID:18249525|PMID:23146207|PMID:25052858|PMID:25524373|PMID:25741868|PMID:28492532|PMID:34136434|PMID:34474328|PMID:37596007
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:13074	tinea unguium		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinea unguium	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14264	benign neonatal seizures		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign neonatal seizures	PMID:14534157|PMID:16199547|PMID:16883520|PMID:17576681|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350204|PMID:26350515|PMID:26467025|PMID:27888506|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:29924869|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:31981491|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:35627274|PMID:36454368|PMID:37596007|PMID:38250573|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14264	benign neonatal seizures		ISO	RGD:735595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Benign neonatal seizures	PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350204|PMID:26350515|PMID:26467025|PMID:27888506|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:29924869|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:31981491|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:35627274|PMID:36454368|PMID:37596007|PMID:38250573|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14264	benign neonatal seizures		ISO	RGD:735595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign neonatal seizures | ClinVar Annotator: match by term: Neonatal seizure	PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23146207|PMID:23360469|PMID:23596459|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27888506|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:29924869|PMID:30348901|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:31981491|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:35627274|PMID:36454368|PMID:37596007|PMID:38250573|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14777	benign familial neonatal epilepsy		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign familial neonatal epilepsy | ClinVar Annotator: match by term: Familial neonatal seizures	PMID:16883520|PMID:17576681|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23596459|PMID:23934111|PMID:25052858|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350204|PMID:26350515|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:36454368|PMID:37596007|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14777	benign familial neonatal epilepsy		ISO	RGD:735595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign familial neonatal epilepsy	PMID:16883520|PMID:17576681|PMID:18249525|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23146207|PMID:23596459|PMID:25052858|PMID:25524373|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29808309|PMID:29852413|PMID:30348901|PMID:31177578|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:36454368|PMID:37596007|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1596	depressive disorder		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1826	epilepsy		ISO	RGD:735595	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1826	epilepsy		ISO	RGD:735595	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:25278462|PMID:25741868|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1826	epilepsy		ISO	RGD:735595	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:18354422|PMID:21687499|PMID:23020937|PMID:23934111|PMID:25278462|PMID:25740509|PMID:25741868|PMID:26350204|PMID:26350515|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:30578330|PMID:31177578|PMID:31440727
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1827	generalized epilepsy		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16883520|PMID:18249525|PMID:23146207|PMID:25052858|PMID:25524373|PMID:25741868|PMID:28492532|PMID:34136434|PMID:34474328|PMID:37596007
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1969	cerebral palsy		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:2030	anxiety disorder		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:2841	asthma		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:4362	cervical cancer		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:480	movement disease		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:540	strabismus		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:630	genetic disease		ISO	RGD:735595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16235065|PMID:17576681|PMID:17765802|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23360469|PMID:23596459|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29808309|PMID:29924869|PMID:30348901|PMID:32086284|PMID:33004838|PMID:35627274|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69222	D	RGD:9068941	20200609	RGD		associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat)	PMID:23352759|REF_RGD_ID:9686417
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:735595	D	RGD:7240710	20180130	OMIM			
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:735595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: Benign Neonatal Epilepsy 2 | ClinVar Annotator: match by term: KCNQ3-related condition | ClinVar Annotator: match by term: SEIZURES, BENIGN FAMILIAL NEONATAL, 2 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2	PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23146207|PMID:23360469|PMID:23596459|PMID:24375629|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25741868|PMID:26467025|PMID:27781029|PMID:27888506|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29808309|PMID:29852413|PMID:30348901|PMID:30782577|PMID:31177578|PMID:31440727|PMID:31785789|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33098118|PMID:33149276|PMID:34136434|PMID:34474328|PMID:34728568|PMID:36454368|PMID:37596007|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9003703	Coxa Valga		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16883520|PMID:18249525|PMID:23146207|PMID:25052858|PMID:25524373|PMID:25741868|PMID:28492532|PMID:29358611|PMID:34136434|PMID:34474328|PMID:37596007
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:936	brain disease		ISO	RGD:735595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532|PMID:29358611
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:1115	sarcoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:1324	lung cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050207	SLC9C1	solute carrier family 9 member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:1115	sarcoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:1324	lung cancer		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:1909	melanoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:303	substance-related disorder		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:36174057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050290	CA4	carbonic anhydrase 4	gene	DOID:0110404	retinitis pigmentosa 17		ISO	RGD:1353429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CA4-related condition | ClinVar Annotator: match by term: retinitis pigmentosa 17	PMID:15090652|PMID:15295099|PMID:15563508|PMID:20626030|PMID:25741868|PMID:28492532
12050290	CA4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:28492532|PMID:29343940
12050290	CA4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1353429	D	RGD:9068941	20200609	RGD			PMID:15090652|REF_RGD_ID:1600730
12050290	CA4	carbonic anhydrase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353429	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050290	CA4	carbonic anhydrase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050290	CA4	carbonic anhydrase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17652713|PMID:19211803|PMID:20450258|PMID:28492532|PMID:30718709
12050290	CA4	carbonic anhydrase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:1324	lung cancer		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1606224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:2340	craniosynostosis		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:28492532|PMID:31837199
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:732444	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9001911	Craniosynostosis and Dental Anomalies		ISO	RGD:732444	D	RGD:7240710	20180130	OMIM			
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9001911	Craniosynostosis and Dental Anomalies		ISO	RGD:732444	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CRANIOSYNOSTOSIS AND DENTAL ANOMALIES | ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition	PMID:21741611|PMID:24498618|PMID:25741868|PMID:28492532|PMID:30282020|PMID:32860008|PMID:34906502
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11161848
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9004649	Heat Stroke		ISO	RGD:1553290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050329	ENAM	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:7240710	20180130	OMIM			
12050329	ENAM	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IB | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B | ClinVar Annotator: match by term: amelogenesis imperfecta type 1B	PMID:12828988|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359|PMID:33864320
12050329	ENAM	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:7240710	20180130	OMIM			
12050329	ENAM	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C	PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28492532|PMID:40741335
12050329	ENAM	enamelin	gene	DOID:10534	stomach cancer		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12050329	ENAM	enamelin	gene	DOID:2187	amelogenesis imperfecta		IAGP		D	RGD:12801476	20230823	OMIA		Amelogenesis imperfecta, ENAM-related	PMID:23638899|PMID:29201383|PMID:29744112|PMID:30877375|PMID:37582787
12050329	ENAM	enamelin	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1315614	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia	PMID:25741868|PMID:28492532
12050329	ENAM	enamelin	gene	DOID:630	genetic disease		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:25741868|PMID:28492532
12050329	ENAM	enamelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050344	ZFP69	ZFP69 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050344	ZFP69	ZFP69 zinc finger protein	gene	DOID:0060058	lymphoma		ISO	RGD:1350662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12050344	ZFP69	ZFP69 zinc finger protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050344	ZFP69	ZFP69 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1354460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
12050364	TXNL1	thioredoxin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050364	TXNL1	thioredoxin like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050364	TXNL1	thioredoxin like 1	gene	DOID:3275	thymoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050364	TXNL1	thioredoxin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050364	TXNL1	thioredoxin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354026	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050364	TXNL1	thioredoxin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050364	TXNL1	thioredoxin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050364	TXNL1	thioredoxin like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12050364	TXNL1	thioredoxin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1316799	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:1909	melanoma		ISO	RGD:1316799	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050376	CNKSR3	CNKSR family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050399	RCN3	reticulocalbin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050399	RCN3	reticulocalbin 3	gene	DOID:1324	lung cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050399	RCN3	reticulocalbin 3	gene	DOID:3070	high grade glioma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12050399	RCN3	reticulocalbin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346169	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050399	RCN3	reticulocalbin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050399	RCN3	reticulocalbin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1346169	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12050399	RCN3	reticulocalbin 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12050399	RCN3	reticulocalbin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050399	RCN3	reticulocalbin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050410	MAP4	microtubule associated protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050410	MAP4	microtubule associated protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050410	MAP4	microtubule associated protein 4	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1343248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
12050410	MAP4	microtubule associated protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050410	MAP4	microtubule associated protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050410	MAP4	microtubule associated protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050410	MAP4	microtubule associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050410	MAP4	microtubule associated protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12050410	MAP4	microtubule associated protein 4	gene	DOID:3275	thymoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050410	MAP4	microtubule associated protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12050410	MAP4	microtubule associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:9004657	Weight Gain		ISO	RGD:1343248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12050410	MAP4	microtubule associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050410	MAP4	microtubule associated protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12050465	PLPPR2	phospholipid phosphatase related 2	gene	DOID:1324	lung cancer		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050465	PLPPR2	phospholipid phosphatase related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050465	PLPPR2	phospholipid phosphatase related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050465	PLPPR2	phospholipid phosphatase related 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:22506635|REF_RGD_ID:10401267
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:16750036|REF_RGD_ID:5687742
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050848	obstructive sleep apnea	treatment	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:23815362|REF_RGD_ID:10401240
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0060873	isolated growth hormone deficiency type IA		ISO	RGD:62175	D	RGD:9068941	20220825	MouseDO		OMIM:262400	
12050501	GHRH	growth hormone releasing hormone	gene	DOID:10286	prostate carcinoma		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate	PMID:12364462|REF_RGD_ID:2289976
12050501	GHRH	growth hormone releasing hormone	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:23211425|REF_RGD_ID:10401233
12050501	GHRH	growth hormone releasing hormone	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:21321192|PMID:22341819|REF_RGD_ID:10401238|REF_RGD_ID:10401264
12050501	GHRH	growth hormone releasing hormone	gene	DOID:11396	pulmonary edema		ISO	RGD:737566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22308467
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1380	endometrial cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:15784701|REF_RGD_ID:2301423
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1380	endometrial cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:expression in 17/22 specimens	PMID:10022420|REF_RGD_ID:2289974
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1612	breast cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas	PMID:1973621|REF_RGD_ID:2289972
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:11710593|REF_RGD_ID:2301424
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:11163834|REF_RGD_ID:2301425
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:expression in 17/22 specimens	PMID:10022420|REF_RGD_ID:2289974
12050501	GHRH	growth hormone releasing hormone	gene	DOID:289	endometriosis		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary	PMID:11163834|REF_RGD_ID:2301425
12050501	GHRH	growth hormone releasing hormone	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:10962030|REF_RGD_ID:2301426
12050501	GHRH	growth hormone releasing hormone	gene	DOID:535	sleep disorder		ISO	RGD:61883	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, multiple (rat)	PMID:16859658|REF_RGD_ID:5687196
12050501	GHRH	growth hormone releasing hormone	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:24373935|REF_RGD_ID:10401242
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		Adenoma; human gene in mouse model	PMID:1425411|REF_RGD_ID:5687177
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	resistance	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:21846799|REF_RGD_ID:5687168
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002775	Cognitive Dysfunction	treatment	ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:23689947|REF_RGD_ID:10401232
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:22393012|REF_RGD_ID:10401241
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9007827	Upper Airway Obstruction		ISO	RGD:61883	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:hypothalamus (rat)	PMID:21406516|REF_RGD_ID:5687169
12050514	BRAP	BRCA1 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050514	BRAP	BRCA1 associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050514	BRAP	BRCA1 associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050514	BRAP	BRCA1 associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12050514	BRAP	BRCA1 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050514	BRAP	BRCA1 associated protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1348068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198608
12050514	BRAP	BRCA1 associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050514	BRAP	BRCA1 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050514	BRAP	BRCA1 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050540	FOXM1	forkhead box M1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:13679865
12050540	FOXM1	forkhead box M1	gene	DOID:10534	stomach cancer		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050540	FOXM1	forkhead box M1	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604404	D	RGD:9068941	20220217	RGD		protein:increased expression:stomach (human)	PMID:25482013|REF_RGD_ID:151356929
12050540	FOXM1	forkhead box M1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050540	FOXM1	forkhead box M1	gene	DOID:11714	gestational diabetes		ISO	RGD:62099	D	RGD:9068941	20200609	RGD			PMID:19833884|REF_RGD_ID:2315927
12050540	FOXM1	forkhead box M1	gene	DOID:1240	leukemia		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19436953
12050540	FOXM1	forkhead box M1	gene	DOID:1324	lung cancer		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210	
12050540	FOXM1	forkhead box M1	gene	DOID:1909	melanoma		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050540	FOXM1	forkhead box M1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12050540	FOXM1	forkhead box M1	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1604404	D	RGD:9068941	20230225	RGD			PMID:24859161|REF_RGD_ID:156430321
12050540	FOXM1	forkhead box M1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18345025|PMID:19672312
12050540	FOXM1	forkhead box M1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12050540	FOXM1	forkhead box M1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050540	FOXM1	forkhead box M1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15082532|PMID:17173139|PMID:28284560
12050540	FOXM1	forkhead box M1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
12050540	FOXM1	forkhead box M1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15082532
12050540	FOXM1	forkhead box M1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489016|PMID:23255470
12050540	FOXM1	forkhead box M1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050540	FOXM1	forkhead box M1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208560
12050540	FOXM1	forkhead box M1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:7240710	20211201	OMIM			
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:0051025	visceral heterotaxy 11		ISO	RGD:1604370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY | ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility	PMID:25741868
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604370	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:3275	thymoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9256	colorectal cancer		ISO	RGD:1604370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12050574	RAI1	retinoic acid induced 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981775
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:7240710	20180130	OMIM			
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28135719|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:24715852|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:32343762|PMID:35887114|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 17p11.2 DELETION SYNDROME | ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: SMITH-MAGENIS SYNDROME | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652290|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:24715852|PMID:25741868|PMID:26467025|PMID:28057753|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:35887114|PMID:8401506|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318304	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17517686
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318305	D	RGD:9068941	20250724	MouseDO		OMIM:610883	
12050574	RAI1	retinoic acid induced 1	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 9	PMID:25741868|PMID:27082237|PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050574	RAI1	retinoic acid induced 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861|PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050574	RAI1	retinoic acid induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050574	RAI1	retinoic acid induced 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050574	RAI1	retinoic acid induced 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
12050574	RAI1	retinoic acid induced 1	gene	DOID:178	vascular disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
12050574	RAI1	retinoic acid induced 1	gene	DOID:1826	epilepsy		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050574	RAI1	retinoic acid induced 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:2769	tic disorder		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12050574	RAI1	retinoic acid induced 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050574	RAI1	retinoic acid induced 1	gene	DOID:535	sleep disorder		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050574	RAI1	retinoic acid induced 1	gene	DOID:630	genetic disease		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12652298|PMID:15565467|PMID:15788730|PMID:21857958|PMID:24033266|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28057753|PMID:28490743|PMID:28492532|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12050574	RAI1	retinoic acid induced 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12050574	RAI1	retinoic acid induced 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12050574	RAI1	retinoic acid induced 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12050574	RAI1	retinoic acid induced 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9002111	Dyssomnias		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19752160
12050574	RAI1	retinoic acid induced 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
12050574	RAI1	retinoic acid induced 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318304	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12050574	RAI1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24715852|PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318304	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:9970	obesity		ISO	RGD:1318304	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:7240710	20220810	OMIM			
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 87, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive	PMID:25741868
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:10534	stomach cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:1059	intellectual disability		ISO	RGD:1320973	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320973	D	RGD:9068941	20210820	RGD		protein:decreased expression:kidney,renal glomerulus (human)	PMID:30900988|REF_RGD_ID:15023481
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:1324	lung cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:3070	high grade glioma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9001542	Albuminuria		ISO	RGD:1310207	D	RGD:9068941	20210820	RGD		mRNA:increased expression:kidney,renal glomerulus (rat)	PMID:30900988|REF_RGD_ID:15023481
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9256	colorectal cancer		ISO	RGD:1320973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:0080600	COVID-19		ISO	RGD:68985	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:1324	lung cancer		ISO	RGD:68985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:3275	thymoma		ISO	RGD:68985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603390	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:1909	melanoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12050654	CMTM7	CKLF like MARVEL transmembrane domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050699	SYDE1	synapse defective Rho GTPase homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050699	SYDE1	synapse defective Rho GTPase homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050699	SYDE1	synapse defective Rho GTPase homolog 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1602201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12050711	PKN1	protein kinase N1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:10534	stomach cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050711	PKN1	protein kinase N1	gene	DOID:1115	sarcoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050711	PKN1	protein kinase N1	gene	DOID:1324	lung cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050711	PKN1	protein kinase N1	gene	DOID:1909	melanoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050711	PKN1	protein kinase N1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:3275	thymoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050711	PKN1	protein kinase N1	gene	DOID:4362	cervical cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050711	PKN1	protein kinase N1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12050711	PKN1	protein kinase N1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050711	PKN1	protein kinase N1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12050711	PKN1	protein kinase N1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12050711	PKN1	protein kinase N1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050711	PKN1	protein kinase N1	gene	DOID:9002514	Neointima	ameliorates	ISO	RGD:69308	D	RGD:9068941	20230413	RGD			PMID:22893700|REF_RGD_ID:243065233
12050711	PKN1	protein kinase N1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352784	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12050711	PKN1	protein kinase N1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050711	PKN1	protein kinase N1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050711	PKN1	protein kinase N1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050711	PKN1	protein kinase N1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:3275	thymoma		ISO	RGD:1641960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:5041	esophageal cancer		ISO	RGD:1641960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1641960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1344624	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: autosomal dominant nonsyndromic hearing loss	PMID:25741868
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0112168	autosomal dominant nonsyndromic deafness 77		ISO	RGD:1344624	D	RGD:7240710	20200701	OMIM			
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0112168	autosomal dominant nonsyndromic deafness 77		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ABCC1-related condition	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:25991605|REF_RGD_ID:13801010
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:10763	hypertension		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17272743
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1115	sarcoma		ISO	RGD:1344624	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:114	heart disease		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1324	lung cancer		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:10919	D	RGD:9068941	20220901	RGD			PMID:35289739|REF_RGD_ID:153344587
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1909	melanoma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:2841	asthma		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:18931056|REF_RGD_ID:5128825
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344624	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs212093, rs4148382 (human)	PMID:20487524|REF_RGD_ID:5128824
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344624	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:respiratory epithelial cell	PMID:12930913|REF_RGD_ID:5128827
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3275	thymoma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:11238654|REF_RGD_ID:5128828
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25078270
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18256692
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25078270
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:619569	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33171190
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0060500	drug allergy		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20216337
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29341352
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)	PMID:18926681|REF_RGD_ID:14700775
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:10534	stomach cancer		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:114	heart disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:11832	visual epilepsy		ISO	RGD:619569	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:16504477
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:15770136|REF_RGD_ID:14700810
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542527
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome		ISO	RGD:619569	D	RGD:7240710	20180130	OMIM			
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome		ISO	RGD:619569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: DUBIN-JOHNSON SYNDROME | ClinVar Annotator: match by term: Dubin-Johnson syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE	PMID:10053008|PMID:10464142|PMID:11093739|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12087194|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15777714|PMID:15821043|PMID:15870973|PMID:16199547|PMID:16377077|PMID:16549534|PMID:16847695|PMID:16952291|PMID:17576681|PMID:18334920|PMID:18445995|PMID:18673259|PMID:20849526|PMID:21044052|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23429660|PMID:24033266|PMID:25087612|PMID:25336012|PMID:25741868|PMID:27124789|PMID:27706244|PMID:28492532|PMID:29304564|PMID:29499989|PMID:30344695|PMID:30366773|PMID:30675866|PMID:31345219|PMID:31450232|PMID:31544333|PMID:31564432|PMID:31589614|PMID:31980526|PMID:32183854|PMID:32758197|PMID:33713692|PMID:34050268|PMID:34426522|PMID:34858902|PMID:35477852|PMID:36046230|PMID:36406324|PMID:39096023|PMID:9185779|PMID:9425227|PMID:9536098|PMID:9878557
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:10053008|REF_RGD_ID:1598616
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1324	lung cancer		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13250	diarrhea		ISO	RGD:619569	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32387182
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:12702498|PMID:16037978|PMID:17009103|REF_RGD_ID:11081011|REF_RGD_ID:1598571|REF_RGD_ID:1598614
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:intestine:	PMID:15057744|REF_RGD_ID:11081007
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10869290|PMID:17681005|PMID:22521610
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis	disease_progression	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine:	PMID:15057744|REF_RGD_ID:11081007
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:619569	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:19020751|REF_RGD_ID:2317509
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1824	status epilepticus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16504477|REF_RGD_ID:1598613
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1824	status epilepticus		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16504477
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1826	epilepsy	treatment	ISO	RGD:2366	D	RGD:9068941	20241107	RGD			PMID:12663688|REF_RGD_ID:704399
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2044	drug-induced hepatitis	no_association	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:22178260|REF_RGD_ID:14700817
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2044	drug-induced hepatitis	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human)	PMID:17502832|REF_RGD_ID:14700816
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:619569	D	RGD:8554872	20250723	ClinVar		ClinVar Annotator: match by term: Pseudoxanthoma elasticum	PMID:15870973|PMID:28492532|PMID:29499989|PMID:9878557
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:10368	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:8662992|REF_RGD_ID:631914
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16611851
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:15846474|REF_RGD_ID:11081004
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21206495
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-24C>T, 3972C>T(human)	PMID:17534875|REF_RGD_ID:11080964
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:4362	cervical cancer		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:4947	cholangiocarcinoma	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:c.3972C>T (human)	PMID:19451719|REF_RGD_ID:2317508
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:619569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:630	genetic disease		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:783	end stage renal disease		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:17135344|REF_RGD_ID:2301067
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human)	PMID:25060527|REF_RGD_ID:11080961
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:863	nervous system disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9003507	Premature Birth		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16549534|PMID:16952291|PMID:28492532|PMID:31450232|PMID:9185779
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004486	Drug-induced Neutropenia	no_association	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP:rs12762549(human)	PMID:23188068|REF_RGD_ID:11080999
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP:rs12762549(human)	PMID:18294295|REF_RGD_ID:11080980
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)	PMID:20943283|REF_RGD_ID:11080978
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA: increased expression: brain	PMID:17664251|REF_RGD_ID:2312730
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:20487213|REF_RGD_ID:11541075
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:19356064|REF_RGD_ID:2312728
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16572733|REF_RGD_ID:1598611
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:619569	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:619569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794|PMID:18466103
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:25196354|REF_RGD_ID:14700812
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-24C>T(human)	PMID:17241877|REF_RGD_ID:14700814
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10368	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:18189363|REF_RGD_ID:2312726
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA: decreased expression: liver	PMID:15319330|REF_RGD_ID:2312736
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:25152023|REF_RGD_ID:14700811
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16139386|REF_RGD_ID:1598602
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:987	alopecia		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNP:5'UTR:rs717620(human)	PMID:24404132|REF_RGD_ID:11080959
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs717620(human)	PMID:25007187|REF_RGD_ID:11080979
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:628847	D	RGD:9068941	20200609	RGD		associated with Liver Neoplasms, Experimental;protein:decreased expression:liver	PMID:18081878|REF_RGD_ID:2304231
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:10534	stomach cancer		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,CA1 field of hippocampus:	PMID:11208906|REF_RGD_ID:10412676
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:1115	sarcoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:1909	melanoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:2237	hepatitis		ISO	RGD:736024	D	RGD:9068941	20220811	RGD			PMID:25173965|REF_RGD_ID:153305943
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:2349	arteriosclerosis		ISO	RGD:736024	D	RGD:9068941	20200609	RGD			PMID:15567863|REF_RGD_ID:1582314
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:326	ischemia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19667931
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:3275	thymoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736023	D	RGD:9068941	20200609	RGD			PMID:22517435|REF_RGD_ID:14348976
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:4362	cervical cancer		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21779479
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		associated with Colorectal Neoplasms	PMID:25205654|REF_RGD_ID:13217416
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736023	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19667931|PMID:20302854
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:736023	D	RGD:9068941	20200609	RGD			PMID:25205654|REF_RGD_ID:13217416
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:628847	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1312944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312944	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:25741868|PMID:28492532|PMID:30755392
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1349063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1349063	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: DCHS1-related congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:7240710	20190327	OMIM			
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCHS1-related condition | ClinVar Annotator: match by term: VAN MALDERGEM SYNDROME 1 | ClinVar Annotator: match by term: Van Maldergem syndrome 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:10763	hypertension		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:1115	sarcoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:1826	epilepsy		ISO	RGD:1349063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:1909	melanoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1349063	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	PMID:28492532|PMID:32381727
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:3275	thymoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:4977	lymphedema		ISO	RGD:1349063	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:630	genetic disease		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:630	genetic disease		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:1349063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:7240710	20180130	OMIM			
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: MITRAL VALVE PROLAPSE 2 | ClinVar Annotator: match by term: MMVP2 | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:30755392
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30755392
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1616539	D	RGD:9068941	20220825	MouseDO		OMIM:157700 | OMIM:607829 | OMIM:610840	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:10534	stomach cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs155524(human)	PMID:20479155|REF_RGD_ID:13602005
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:1324	lung cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:1909	melanoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3275	thymoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:rs189897,rs2212020(human)	PMID:21764681|REF_RGD_ID:13602007
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322518	D	RGD:9068941	20220908	RGD		mRNA:decreased expression:lung (human)	PMID:22491060|REF_RGD_ID:153350086
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051039	CPNE8	copine 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051039	CPNE8	copine 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051039	CPNE8	copine 8	gene	DOID:1324	lung cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051039	CPNE8	copine 8	gene	DOID:3275	thymoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051039	CPNE8	copine 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12051039	CPNE8	copine 8	gene	DOID:4362	cervical cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051039	CPNE8	copine 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051039	CPNE8	copine 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12051039	CPNE8	copine 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051039	CPNE8	copine 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051039	CPNE8	copine 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051039	CPNE8	copine 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1317425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12051082	CLDN8	claudin 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318427	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
12051087	KIFBP	kinesin family binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317800	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051087	KIFBP	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:7240710	20190315	OMIM			
12051087	KIFBP	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: KIFBP-related disorder	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943|PMID:39033378
12051087	KIFBP	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLDBERG-SHPRINTZEN SYNDROME | ClinVar Annotator: match by term: Goldberg-Shprintzen Syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen megacolon syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: KIFBP-related disorder	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24901346|PMID:25741868|PMID:28277559|PMID:28492532|PMID:3293994|PMID:32939943
12051087	KIFBP	kinesin family binding protein	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1317800	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 3	PMID:25741868|PMID:28492532
12051087	KIFBP	kinesin family binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051087	KIFBP	kinesin family binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12051087	KIFBP	kinesin family binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051087	KIFBP	kinesin family binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051087	KIFBP	kinesin family binding protein	gene	DOID:870	neuropathy		ISO	RGD:1317800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12051087	KIFBP	kinesin family binding protein	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1317800	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLDBERG-SHPRINTZEN SYNDROME | ClinVar Annotator: match by term: Goldberg-Shprintzen Syndrome | ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24901346|PMID:25741868|PMID:28492532|PMID:3293994|PMID:32939943
12051087	KIFBP	kinesin family binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:1115	sarcoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:1324	lung cancer		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348609	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1348609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:737516	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:11400	pyelonephritis		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3068	glioblastoma		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23724780
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:737516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:0060058	lymphoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22405201
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1553247	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1115	sarcoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1909	melanoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:3275	thymoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:4362	cervical cancer		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353351	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620836	D	RGD:9068941	20200609	RGD			PMID:12225880|REF_RGD_ID:2314400
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051227	CPA4	carboxypeptidase A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051227	CPA4	carboxypeptidase A4	gene	DOID:3275	thymoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051227	CPA4	carboxypeptidase A4	gene	DOID:4362	cervical cancer		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051227	CPA4	carboxypeptidase A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051227	CPA4	carboxypeptidase A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051227	CPA4	carboxypeptidase A4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051227	CPA4	carboxypeptidase A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051227	CPA4	carboxypeptidase A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:9505	cannabis abuse		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death	PMID:24488861|PMID:25741868|PMID:31497877
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:7240710	20180307	OMIM			
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 1 | ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1	PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:25741868|PMID:31497877
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:1909	melanoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:630	genetic disease		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1322794	D	RGD:9068941	20200609	RGD		Cold-induced sweating syndrome-1, OMIM:272430	PMID:12509788|REF_RGD_ID:1600970
12051260	PRND	prion like protein doppel	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315338	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051260	PRND	prion like protein doppel	gene	DOID:3275	thymoma		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051260	PRND	prion like protein doppel	gene	DOID:4362	cervical cancer		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051260	PRND	prion like protein doppel	gene	DOID:5041	esophageal cancer		ISO	RGD:1315338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051260	PRND	prion like protein doppel	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051260	PRND	prion like protein doppel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:731853	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0050486	exanthem		ISO	RGD:731853	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:25741868|PMID:28492532
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0080832	mild cognitive impairment		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mild cognitive impairment	PMID:25741868|PMID:28492532|PMID:33413275
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:25741868|PMID:28492532
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:1909	melanoma		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:731853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease, type IV	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:630	genetic disease		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23104095|PMID:2379848|PMID:23889995|PMID:25741868|PMID:28492532
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17121852
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9007616	Polyglucosan Body Myopathy 1 with or without Immunodeficiency		ISO	RGD:731853	D	RGD:7240710	20180130	OMIM			
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9007616	Polyglucosan Body Myopathy 1 with or without Immunodeficiency		ISO	RGD:731853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY | ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY 1 WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: RBCK1-related condition	PMID:16199547|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:289	endometriosis		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815356|PMID:21232532
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051297	GPHB5	glycoprotein hormone subunit beta 5	gene	DOID:1324	lung cancer		ISO	RGD:1342611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051301	PIPOX	pipecolic acid and sarcosine oxidase	gene	DOID:1324	lung cancer		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051301	PIPOX	pipecolic acid and sarcosine oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051301	PIPOX	pipecolic acid and sarcosine oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051301	PIPOX	pipecolic acid and sarcosine oxidase	gene	DOID:906	peroxisomal disease		ISO	RGD:1322755	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10642506
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1354502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy	PMID:16150821|PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:18952067|PMID:19763152|PMID:20307669|PMID:21170305|PMID:21544567|PMID:22406018|PMID:22832386|PMID:22990388|PMID:23232698|PMID:25287355|PMID:25741868|PMID:26602809|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:30738494|PMID:31525260|PMID:32041611|PMID:35342266|PMID:35460704|PMID:39825153|PMID:9536098
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:114	heart disease		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21585347|PMID:23867907
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:423	myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:17187067|PMID:21544567|PMID:25741868|PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1354502	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17187067|PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532|PMID:33569515
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:7240710	20180130	OMIM			
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY | ClinVar Annotator: match by term: Neutral lipid storage disease with myopathy | ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis	PMID:16199547|PMID:16644682|PMID:17187067|PMID:18445597|PMID:21170305|PMID:21544567|PMID:22832386|PMID:22990388|PMID:23449549|PMID:25741868|PMID:28492532|PMID:28499397
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:7240710	20221109	OMIM			
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SHORT STATURE, PROMINENT FOREHEAD, AND FEEDING DIFFICULTIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	PMID:25741868|PMID:35482014
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:1115	sarcoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051364	LOC100686073	metallothionein-1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:0060496	respiratory allergy		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
12051364	LOC100686073	metallothionein-1	gene	DOID:0080600	COVID-19		ISO	RGD:1349525	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD14 monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12051364	LOC100686073	metallothionein-1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10922	D	RGD:9068941	20200609	RGD			PMID:22766972|REF_RGD_ID:10412319
12051364	LOC100686073	metallothionein-1	gene	DOID:11573	listeriosis		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19576872
12051364	LOC100686073	metallothionein-1	gene	DOID:1561	cognitive disorder		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18226494
12051364	LOC100686073	metallothionein-1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (mouse)	PMID:16179515|REF_RGD_ID:6484130
12051364	LOC100686073	metallothionein-1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:4362	cervical cancer		ISO	RGD:1349525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051364	LOC100686073	metallothionein-1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051364	LOC100686073	metallothionein-1	gene	DOID:480	movement disease		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16216453
12051364	LOC100686073	metallothionein-1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051364	LOC100686073	metallothionein-1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051364	LOC100686073	metallothionein-1	gene	DOID:767	muscular atrophy		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:8466	retinal degeneration		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:23132798|REF_RGD_ID:10412646
12051364	LOC100686073	metallothionein-1	gene	DOID:8927	learning disability		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16216453
12051364	LOC100686073	metallothionein-1	gene	DOID:9001981	Weight Loss		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:9002644	Premature Aging		ISO	RGD:10922	D	RGD:9068941	20200609	RGD			PMID:18410310|REF_RGD_ID:10412323
12051364	LOC100686073	metallothionein-1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (mouse)	PMID:19619133|REF_RGD_ID:6484112
12051364	LOC100686073	metallothionein-1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11835189
12051364	LOC100686073	metallothionein-1	gene	DOID:9004484	Sepsis		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374846
12051364	LOC100686073	metallothionein-1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16166738
12051364	LOC100686073	metallothionein-1	gene	DOID:9004634	Cardiac Output, Low		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30096613
12051364	LOC100686073	metallothionein-1	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12514265
12051364	LOC100686073	metallothionein-1	gene	DOID:9007480	Hyperoxia		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:8110467|REF_RGD_ID:6484136
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:0080600	COVID-19		ISO	RGD:736319	D	RGD:9068941	20210122	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736319	D	RGD:9068941	20240704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736319	D	RGD:9068941	20210122	RGD			PMID:28672194|REF_RGD_ID:14696810
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:9256	colorectal cancer		ISO	RGD:736319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12051418	WNT8A	Wnt family member 8A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366
12051418	WNT8A	Wnt family member 8A	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1314861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:25741868
12051418	WNT8A	Wnt family member 8A	gene	DOID:10892	hypospadias		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12051418	WNT8A	Wnt family member 8A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1315189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	
12051436	ZNF408	zinc finger protein 408	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1315189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	
12051436	ZNF408	zinc finger protein 408	gene	DOID:0110395	retinitis pigmentosa 72		ISO	RGD:1315189	D	RGD:7240710	20180130	OMIM			
12051436	ZNF408	zinc finger protein 408	gene	DOID:0110395	retinitis pigmentosa 72		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 72 | ClinVar Annotator: match by term: Retinitis pigmentosa 72	PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111410	exudative vitreoretinopathy 6		ISO	RGD:1315189	D	RGD:7240710	20180130	OMIM			
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111410	exudative vitreoretinopathy 6		ISO	RGD:1315189	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 | ClinVar Annotator: match by term: ZNF408-related condition	PMID:25741868|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 1	PMID:23716654|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa	PMID:28095122
12051436	ZNF408	zinc finger protein 408	gene	DOID:1324	lung cancer		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051436	ZNF408	zinc finger protein 408	gene	DOID:1909	melanoma		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051436	ZNF408	zinc finger protein 408	gene	DOID:5723	optic atrophy		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12051436	ZNF408	zinc finger protein 408	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051436	ZNF408	zinc finger protein 408	gene	DOID:630	genetic disease		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23716654|PMID:25741868|PMID:27316669|PMID:28492532|PMID:28559085|PMID:29982478|PMID:33247286
12051436	ZNF408	zinc finger protein 408	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:23716654|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:9007302	Vitreous Hemorrhage		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitreous hemorrhage	PMID:23716654|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:23716654
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351801	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351801	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:1324	lung cancer		ISO	RGD:1351801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1343702	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624384
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:1343702	D	RGD:9068941	20220506	RGD		protein:increased expression:larynx (human)	PMID:16494043|REF_RGD_ID:152025548
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:2843	long QT syndrome		ISO	RGD:1343702	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:25741868
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:305	carcinoma		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343702	D	RGD:9068941	20230128	RGD		mRNA:increased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:557	kidney disease		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22880115
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9002297	OCULOMOTOR-ABDUCENS SYNKINESIS		ISO	RGD:1343702	D	RGD:7240710	20210414	OMIM			
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0050581	brachydactyly		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1601873	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0060970	Cornelia de Lange syndrome 6		ISO	RGD:1601873	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 6	PMID:25741868
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0080006	bone development disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:10907	microcephaly		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:12270	coloboma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1561	cognitive disorder		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1601873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:630	genetic disease		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:83	cataract		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:8445	intestinal volvulus		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:850	lung disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:33417923|REF_RGD_ID:155631266
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9000590	Dyspnea		ISO	RGD:1601873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25730767|PMID:25741868|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9001487	Facies		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9001581	Constipation		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1311694	D	RGD:9068941	20221028	RGD			PMID:31466050|REF_RGD_ID:155631268
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006257	Growth Disorders		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:7240710	20180130	OMIM			
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: CHOPS SYNDROME | ClinVar Annotator: match by term: Chops syndrome | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:29758562|PMID:31058441|PMID:34782754|PMID:9536098
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:35223479|REF_RGD_ID:155631267
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9970	obesity		ISO	RGD:1601873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0050562	West syndrome		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0050847	sleep apnea		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060135	apraxia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060260	ptosis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060261	congenital ptosis		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:33004838|PMID:38438524
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1059	intellectual disability		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:22495309|PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:11963	esophagitis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:12849	autistic disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset | ClinVar Annotator: match by term: CHD8-Related Disorders | ClinVar Annotator: match by term: CHD8-related disorder	PMID:22495309|PMID:23160955|PMID:25741868|PMID:28492532|PMID:31721432|PMID:32951261|PMID:33352116|PMID:34088660
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:12859	choreatic disease		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:14213	hypophosphatasia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating alkaline phosphatase activity	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1657	ventricular septal defect		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1826	epilepsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:22495309|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1827	generalized epilepsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1909	melanoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1969	cerebral palsy		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:2030	anxiety disorder		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:2841	asthma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:3070	high grade glioma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:3275	thymoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:3459	breast carcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:22495309|PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:480	movement disease		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1342489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:543	dystonia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:630	genetic disease		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:22495309|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25418537|PMID:25741868|PMID:26789910|PMID:27824329|PMID:28263302|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31721432|PMID:32951261|PMID:33352116|PMID:9536098
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24998929
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000053	Headache		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:7240710	20220518	OMIM			
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 18 | ClinVar Annotator: match by term: CHD8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND MACROCEPHALY | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly | ClinVar Annotator: match by term: intellectual developmental disorder with autism and macrocephaly	PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326637|PMID:25363760|PMID:25418537|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28475857|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29300386|PMID:29389947|PMID:30564305|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:32951261|PMID:33004838|PMID:33352116|PMID:34088660|PMID:34906502|PMID:35982159|PMID:36182950|PMID:36302072
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000495	Tremor		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000727	Syncope		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9001487	Facies		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30670789
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9001733	Tinnitus		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9003507	Premature Birth		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9003539	Hyperacusis		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9003816	Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22495309|PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342489	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532|PMID:31001818|PMID:34088660
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9004751	Nausea		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9005077	Joint Instability		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1342489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Speech delay	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9007356	Eczema		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:22495309|PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9007573	Flatfoot		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9007736	Vertigo		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22495309|PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9840	esotropia		ISO	RGD:1342489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733363	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0050696	fetal alcohol spectrum disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3094	D	RGD:9068941	20240201	RGD		mRNA:altered expression:central amygdaloid nucleus (rat)	PMID:28461696|REF_RGD_ID:401960064
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: autism spectrum disorder	PMID:25741868|PMID:30763456
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1		ISO	RGD:733363	D	RGD:7240710	20180307	OMIM			
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1		ISO	RGD:733363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant	PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:16972228|PMID:17576681|PMID:19571553|PMID:20030467|PMID:25251996|PMID:25741868|PMID:26467025|PMID:27780983|PMID:28348114|PMID:28492532|PMID:28804203|PMID:32064789|PMID:9536098|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:11206	opioid abuse	susceptibility	ISO	RGD:733363	D	RGD:9068941	20250227	RGD		DNA:SNP:intron: (rs1040288) (human)	PMID:24766650|REF_RGD_ID:401976505
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:11612	polycystic ovary syndrome	treatment	ISO	RGD:3094	D	RGD:9068941	20240222	RGD			PMID:31925474|REF_RGD_ID:401976287
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:12849	autistic disorder		ISO	RGD:733363	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1324	lung cancer		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:3094	D	RGD:9068941	20240215	RGD			PMID:33007359|REF_RGD_ID:401966865
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD			PMID:30171933|REF_RGD_ID:401976281
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:29437012|REF_RGD_ID:401965466
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1909	melanoma		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:22304485|REF_RGD_ID:401965468
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:2661	myoepithelioma		ISO	RGD:733363	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:289	endometriosis		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:3070	high grade glioma		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:3275	thymoma		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:4362	cervical cancer		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16972228|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:733363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733363	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733363	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:5844	myocardial infarction		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16413583|PMID:17587755
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:6000	congestive heart failure		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15722665|PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:630	genetic disease		ISO	RGD:733363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16972228|PMID:17576681|PMID:25741868|PMID:28492532|PMID:38297435|PMID:9536098|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder		ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with prenatal alcohol exposure; mRNA:increased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with caloric restriction, males; mRNA:increased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		protein:altered expression:hippocampus (rat)	PMID:10399770|REF_RGD_ID:401976290
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat)	PMID:16925589|REF_RGD_ID:401976289
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat)	PMID:26342748|REF_RGD_ID:401965481
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with females; mRNA:decreased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9002298	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy		ISO	RGD:733363	D	RGD:7240710	20180130	OMIM			
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9002298	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy		ISO	RGD:733363	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NR3C2-related condition | ClinVar Annotator: match by term: Pseudohyperaldosteronism type 2	PMID:16611713|PMID:16757525|PMID:16972228|PMID:17576681|PMID:19571553|PMID:20453518|PMID:22463955|PMID:23197115|PMID:25741868|PMID:27780983|PMID:28492532|PMID:29449963|PMID:32064789|PMID:36939041|PMID:9536098|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD		associated with morphine dependence	PMID:22304485|REF_RGD_ID:401965468
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:25308750|REF_RGD_ID:401965469
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9005632	Cocaine-Related Disorders	susceptibility	ISO	RGD:733363	D	RGD:9068941	20250227	RGD		DNA:SNP:intron: (rs1040288) (human)	PMID:24766650|REF_RGD_ID:401976505
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:3094	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9970	obesity	treatment	ISO	RGD:3094	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12051610	Nr3c2	nuclear receptor subfamily 3, group C, member 2	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:3094	D	RGD:9068941	20240208	RGD		protein:increased expression:hippocampus (rat)	PMID:33390808|REF_RGD_ID:401965467
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0060058	lymphoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1607084	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12051629	CSDE1	cold shock domain containing E1	gene	DOID:10534	stomach cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:1059	intellectual disability		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:1115	sarcoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:12849	autistic disorder		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:12849	autistic disorder		ISO	RGD:1607084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12051629	CSDE1	cold shock domain containing E1	gene	DOID:1324	lung cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:1909	melanoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:1969	cerebral palsy		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:2394	ovarian cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:3070	high grade glioma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:4362	cervical cancer		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1607084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:543	dystonia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:630	genetic disease		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9000495	Tremor		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
12051629	CSDE1	cold shock domain containing E1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1607084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12051657	MADD	MAP kinase activating death domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:732838	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	PMID:25741868|PMID:32761064
12051657	MADD	MAP kinase activating death domain	gene	DOID:10534	stomach cancer		ISO	RGD:732838	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051657	MADD	MAP kinase activating death domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051657	MADD	MAP kinase activating death domain	gene	DOID:1115	sarcoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:12849	autistic disorder		ISO	RGD:732838	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12051657	MADD	MAP kinase activating death domain	gene	DOID:1324	lung cancer		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051657	MADD	MAP kinase activating death domain	gene	DOID:1909	melanoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:224	transient cerebral ischemia		ISO	RGD:619922	D	RGD:9068941	20200609	RGD			PMID:12625816|REF_RGD_ID:9588641
12051657	MADD	MAP kinase activating death domain	gene	DOID:3070	high grade glioma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12051657	MADD	MAP kinase activating death domain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051657	MADD	MAP kinase activating death domain	gene	DOID:5041	esophageal cancer		ISO	RGD:732838	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051657	MADD	MAP kinase activating death domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:630	genetic disease		ISO	RGD:732838	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28118382|PMID:36413997
12051657	MADD	MAP kinase activating death domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051657	MADD	MAP kinase activating death domain	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12051657	MADD	MAP kinase activating death domain	gene	DOID:9003974	DEEAH Syndrome		ISO	RGD:732838	D	RGD:7240710	20201118	OMIM			
12051657	MADD	MAP kinase activating death domain	gene	DOID:9003974	DEEAH Syndrome		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEEAH SYNDROME | ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH ENDOCRINE, EXOCRINE, AUTONOMIC, AND HEMATOLOGIC ABNORMALITIES | ClinVar Annotator: match by term: Deeah syndrome	PMID:25741868|PMID:28492532|PMID:32761064|PMID:33723354|PMID:36413997
12051657	MADD	MAP kinase activating death domain	gene	DOID:9004709	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA		ISO	RGD:732838	D	RGD:7240710	20201216	OMIM			
12051657	MADD	MAP kinase activating death domain	gene	DOID:9004709	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA		ISO	RGD:732838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	PMID:25741868|PMID:28492532|PMID:28940097|PMID:32761064
12051657	MADD	MAP kinase activating death domain	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12051657	MADD	MAP kinase activating death domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051657	MADD	MAP kinase activating death domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12051657	MADD	MAP kinase activating death domain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737590	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12051738	PGRMC2	progesterone receptor membrane component 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051738	PGRMC2	progesterone receptor membrane component 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318787	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12051738	PGRMC2	progesterone receptor membrane component 2	gene	DOID:1324	lung cancer		ISO	RGD:1318787	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051738	PGRMC2	progesterone receptor membrane component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:0080016	spina bifida		ISO	RGD:733720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16256389
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733720	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex:	PMID:8736634|REF_RGD_ID:10448277
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:733720	D	RGD:9068941	20200609	RGD		protein:decreased expression,decreased activity:brain:	PMID:15857672|REF_RGD_ID:10448283
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:3268	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain:	PMID:15857672|REF_RGD_ID:10448283
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:6000	congestive heart failure		ISO	RGD:733721	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart:	PMID:23647599|REF_RGD_ID:10448278
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:9008752	Aortic Injuries		ISO	RGD:3268	D	RGD:9068941	20200609	RGD			PMID:9188065|REF_RGD_ID:10448925
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051759	ATG7	autophagy related 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051759	ATG7	autophagy related 7	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
12051759	ATG7	autophagy related 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051759	ATG7	autophagy related 7	gene	DOID:0060319	cardiac arrest	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:26071643|REF_RGD_ID:407532703
12051759	ATG7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:7240710	20210728	OMIM			
12051759	ATG7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATG7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31 | ClinVar Annotator: match by term: spinocerebellar ataxia, autosomal recessive 31	PMID:25741868|PMID:28492532|PMID:34161705|PMID:35725745
12051759	ATG7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:34303881|REF_RGD_ID:407445922
12051759	ATG7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:31235522|REF_RGD_ID:407445921
12051759	ATG7	autophagy related 7	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12051759	ATG7	autophagy related 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1304817	D	RGD:9068941	20240822	RGD			PMID:31787541|REF_RGD_ID:25823196
12051759	ATG7	autophagy related 7	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
12051759	ATG7	autophagy related 7	gene	DOID:10534	stomach cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051759	ATG7	autophagy related 7	gene	DOID:10763	hypertension		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:24119246|REF_RGD_ID:11557985
12051759	ATG7	autophagy related 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051759	ATG7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12051759	ATG7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
12051759	ATG7	autophagy related 7	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:26208597|REF_RGD_ID:11557995
12051759	ATG7	autophagy related 7	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:29039471|REF_RGD_ID:407532638
12051759	ATG7	autophagy related 7	gene	DOID:14330	Parkinson's disease		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
12051759	ATG7	autophagy related 7	gene	DOID:1909	melanoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051759	ATG7	autophagy related 7	gene	DOID:2355	anemia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:25542083|REF_RGD_ID:11557994
12051759	ATG7	autophagy related 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12051759	ATG7	autophagy related 7	gene	DOID:4362	cervical cancer		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051759	ATG7	autophagy related 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051759	ATG7	autophagy related 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1312481	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051759	ATG7	autophagy related 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1312481	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12051759	ATG7	autophagy related 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051759	ATG7	autophagy related 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051759	ATG7	autophagy related 7	gene	DOID:5844	myocardial infarction		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plantaris	PMID:24427319|REF_RGD_ID:11557988
12051759	ATG7	autophagy related 7	gene	DOID:607	paraplegia		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:23055316|REF_RGD_ID:11557990
12051759	ATG7	autophagy related 7	gene	DOID:614	lymphopenia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051759	ATG7	autophagy related 7	gene	DOID:8466	retinal degeneration	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240829	RGD			PMID:23341467|REF_RGD_ID:407445924
12051759	ATG7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1304817	D	RGD:9068941	20241024	RGD		associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
12051759	ATG7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1558502	D	RGD:9068941	20241024	RGD		associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
12051759	ATG7	autophagy related 7	gene	DOID:90	degenerative disc disease	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240926	RGD			PMID:33372336|REF_RGD_ID:407571673
12051759	ATG7	autophagy related 7	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:25040536|REF_RGD_ID:11553820
12051759	ATG7	autophagy related 7	gene	DOID:9001981	Weight Loss		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12051759	ATG7	autophagy related 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
12051759	ATG7	autophagy related 7	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12051759	ATG7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1558502	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium	PMID:24874076|REF_RGD_ID:11557993
12051759	ATG7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:24993523|REF_RGD_ID:11557996
12051759	ATG7	autophagy related 7	gene	DOID:9005749	Necrosis		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21081844
12051759	ATG7	autophagy related 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051759	ATG7	autophagy related 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1312481	D	RGD:9068941	20260507	CTD		CTD Direct Evidence: therapeutic	PMID:40578406
12051759	ATG7	autophagy related 7	gene	DOID:9007874	Liver Failure		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12051759	ATG7	autophagy related 7	gene	DOID:9008617	Lethargy		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051759	ATG7	autophagy related 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1322871	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051818	CA2	carbonic anhydrase 2	gene	DOID:0040091	autoimmune pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:15831920|REF_RGD_ID:408425973
12051818	CA2	carbonic anhydrase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051818	CA2	carbonic anhydrase 2	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
12051818	CA2	carbonic anhydrase 2	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:737257	D	RGD:9068941	20220916	RGD			PMID:27688658|REF_RGD_ID:155226860
12051818	CA2	carbonic anhydrase 2	gene	DOID:0110941	autosomal recessive osteopetrosis 3		ISO	RGD:737257	D	RGD:7240710	20180130	OMIM			
12051818	CA2	carbonic anhydrase 2	gene	DOID:0110941	autosomal recessive osteopetrosis 3		ISO	RGD:737257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: CARBONIC ANHYDRASE II VARIANT | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis | ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	PMID:15300855|PMID:18060825|PMID:25720518|PMID:25741868|PMID:28492532|PMID:31690045|PMID:34426522|PMID:4624444|PMID:8128957|PMID:9143915
12051818	CA2	carbonic anhydrase 2	gene	DOID:11476	osteoporosis		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12051818	CA2	carbonic anhydrase 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|PMID:15831920|REF_RGD_ID:408425973|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:13533	osteopetrosis	susceptibility	ISO	RGD:737257	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:1301935|REF_RGD_ID:1600698
12051818	CA2	carbonic anhydrase 2	gene	DOID:1884	viral hepatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12051818	CA2	carbonic anhydrase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12051818	CA2	carbonic anhydrase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:737257	D	RGD:9068941	20220916	RGD		protein:decreased expression:colorectum	PMID:17855694|REF_RGD_ID:155226867
12051818	CA2	carbonic anhydrase 2	gene	DOID:4006	bladder urothelial carcinoma		ISO	RGD:2240	D	RGD:9068941	20241121	RGD		protein:increased expression:bladder epithelial cell	PMID:28004470|REF_RGD_ID:408426005
12051818	CA2	carbonic anhydrase 2	gene	DOID:4006	bladder urothelial carcinoma	severity	ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:28004470|REF_RGD_ID:408426005
12051818	CA2	carbonic anhydrase 2	gene	DOID:4988	alcoholic pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:15831920|REF_RGD_ID:408425973
12051818	CA2	carbonic anhydrase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737257	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12051818	CA2	carbonic anhydrase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051818	CA2	carbonic anhydrase 2	gene	DOID:630	genetic disease		ISO	RGD:737257	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12051818	CA2	carbonic anhydrase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051818	CA2	carbonic anhydrase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12051818	CA2	carbonic anhydrase 2	gene	DOID:9002315	Kidney Calculi		ISO	RGD:2240	D	RGD:9068941	20200609	RGD			PMID:10977795|REF_RGD_ID:1600710
12051818	CA2	carbonic anhydrase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2240	D	RGD:9068941	20241121	RGD		protein:increased expression:brain	PMID:30307711|REF_RGD_ID:408426007
12051818	CA2	carbonic anhydrase 2	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:2240	D	RGD:9068941	20241123	RGD			PMID:24634117|REF_RGD_ID:408427354
12051818	CA2	carbonic anhydrase 2	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:2240	D	RGD:9068941	20241123	RGD		protein:decreased expression:submandibular gland	PMID:17761013|REF_RGD_ID:408427355
12051818	CA2	carbonic anhydrase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051818	CA2	carbonic anhydrase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:1909	melanoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:3393	coronary artery disease		ISO	RGD:1346091	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378988|PMID:34961328
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051847	UCMA	upper zone of growth plate and cartilage matrix associated	gene	DOID:10126	keratoconus		ISO	RGD:1350104	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:10534	stomach cancer		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1605308	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:25741868
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:3070	high grade glioma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:4362	cervical cancer		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:1909	melanoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9004657	Weight Gain		ISO	RGD:1605365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9970	obesity		ISO	RGD:1605365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:1909	melanoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:3275	thymoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:7240710	20220720	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia 25		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 25 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 25	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30544257|PMID:33199448|PMID:35411967|PMID:38374498
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 70 | ClinVar Annotator: match by term: Deafness, autosomal recessive 70	PMID:23084291|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:31752325|PMID:33199448|PMID:34740920|PMID:35411967|PMID:36147510|PMID:38374498|PMID:39924761
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13	PMID:17576681|PMID:25741868|PMID:26633542|PMID:27759031|PMID:28492532|PMID:33812062|PMID:9536098
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317494	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23084291|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:31164858|PMID:31752325|PMID:33199448|PMID:34740920|PMID:35411967|PMID:36147510|PMID:39924761
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317494	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:28594066|PMID:30244537|PMID:32020600
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11080643|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1317494	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1424A>G(p.E475G)(human)	PMID:23084290|REF_RGD_ID:11554169
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532|PMID:28594066|PMID:30244537
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1317494	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24088041|PMID:25741868|PMID:26633545|PMID:28492532|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1317494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
12052036	FOXP2	forkhead box P2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052036	FOXP2	forkhead box P2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052036	FOXP2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :multiple	PMID:24356376|REF_RGD_ID:11535982
12052036	FOXP2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12052036	FOXP2	forkhead box P2	gene	DOID:0060135	apraxia		ISO	RGD:1351861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA	PMID:11586359|PMID:25741868
12052036	FOXP2	forkhead box P2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:7240710	20180130	OMIM			
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA | ClinVar Annotator: match by term: Speech-language disorder-1	PMID:15877281|PMID:16470794|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22766611|PMID:23918746|PMID:25741868|PMID:27572252|PMID:28492532|PMID:30377382|PMID:34015165|PMID:38418803
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.P215A (human)	PMID:19352412|REF_RGD_ID:11536000
12052036	FOXP2	forkhead box P2	gene	DOID:10534	stomach cancer		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052036	FOXP2	forkhead box P2	gene	DOID:1059	intellectual disability		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12052036	FOXP2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs1229761, rs12533005 (human)	PMID:22504457|REF_RGD_ID:11535980
12052036	FOXP2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22504457|REF_RGD_ID:11535980
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108192|PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20260813	RGD		DNA:SNP:intron	PMID:15737702|REF_RGD_ID:11535991
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20260813	RGD		DNA:SNPs, haplotype	PMID:15108192|REF_RGD_ID:11535986
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD			PMID:15998549|REF_RGD_ID:11535984
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple	PMID:12655497|REF_RGD_ID:11535985
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:repeat, deletion	PMID:12116195|REF_RGD_ID:11536001
12052036	FOXP2	forkhead box P2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:1470	major depressive disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10447760 (human)	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:1470	major depressive disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12052036	FOXP2	forkhead box P2	gene	DOID:1909	melanoma		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052036	FOXP2	forkhead box P2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12052036	FOXP2	forkhead box P2	gene	DOID:4186	articulation disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human)	PMID:20923434|REF_RGD_ID:11535989
12052036	FOXP2	forkhead box P2	gene	DOID:4186	articulation disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs::rs923875, rs17137124, rs1456031 (human)	PMID:20923434|REF_RGD_ID:11535989
12052036	FOXP2	forkhead box P2	gene	DOID:4362	cervical cancer		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052036	FOXP2	forkhead box P2	gene	DOID:4428	dyslexia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs12533005 (human)	PMID:21897444|REF_RGD_ID:11535997
12052036	FOXP2	forkhead box P2	gene	DOID:4428	dyslexia	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:21897444|REF_RGD_ID:11535997
12052036	FOXP2	forkhead box P2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10447760 (human)	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :multiple	PMID:16538183|REF_RGD_ID:11535988
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:630	genetic disease		ISO	RGD:1351861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532
12052036	FOXP2	forkhead box P2	gene	DOID:630	genetic disease		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12052036	FOXP2	forkhead box P2	gene	DOID:9001488	Human Influenza		ISO	RGD:1615752	D	RGD:9068941	20200609	RGD			PMID:18248790|REF_RGD_ID:11536002
12052036	FOXP2	forkhead box P2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
12052036	FOXP2	forkhead box P2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052036	FOXP2	forkhead box P2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:27572252
12052036	FOXP2	forkhead box P2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052036	FOXP2	forkhead box P2	gene	DOID:93	language disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		associated with Schizophrenia;DNA:SNP: :rs2253478 (human)	PMID:20649982|REF_RGD_ID:11535993
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1344566	D	RGD:7240710	20180130	OMIM			
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1344566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CURRARINO SYNDROME | ClinVar Annotator: match by term: Currarino syndrome | ClinVar Annotator: match by term: Currarino triad | ClinVar Annotator: match by term: MNX1-related condition	PMID:10631160|PMID:10749657|PMID:16254195|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:32571425|PMID:33836786|PMID:38177409
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1344566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1344566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:25741868
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353373	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 | ClinVar Annotator: match by term: TPP1-related condition	PMID:10330339|PMID:10862088|PMID:11339651|PMID:12125808|PMID:16199547|PMID:17576681|PMID:19038966|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22832778|PMID:23266810|PMID:23374165|PMID:24091540|PMID:25741868|PMID:26032578|PMID:26143525|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30541466|PMID:31059981|PMID:31283065|PMID:31489614|PMID:32580858|PMID:33377563|PMID:34849271|PMID:38469103|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:36034292|PMID:36403551|PMID:36539902|PMID:37922835|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2 | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26822727|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29599076|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29933521|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:30977854|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31487502|PMID:3148961|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32552793|PMID:32631363|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33528536|PMID:33604240|PMID:33845243|PMID:34126256|PMID:34849271|PMID:34992632|PMID:35314707|PMID:35772852|PMID:36034292|PMID:36034301|PMID:36305856|PMID:36362641|PMID:36403551|PMID:36435927|PMID:36539902|PMID:36801247|PMID:37922835|PMID:37926545|PMID:38469103|PMID:39821609|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 2 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 2 | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11054422|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12698559|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15965709|PMID:16199547|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18411270|PMID:18414213|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24091540|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26032578|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:26822727|PMID:27146152|PMID:27553520|PMID:28165011|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29599076|PMID:29631617|PMID:29655203|PMID:29933521|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:3148961|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32552793|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33528536|PMID:33604240|PMID:34126256|PMID:34849271|PMID:34992632|PMID:35314707|PMID:35772852|PMID:36034292|PMID:36034301|PMID:36305856|PMID:36362641|PMID:36403551|PMID:36435927|PMID:36801247|PMID:37926545|PMID:38469103|PMID:39821609|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10320038
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:12859	choreatic disease		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30977854|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31487502|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32631363|PMID:33348105|PMID:33377563|PMID:33604240|PMID:33845243|PMID:34120799|PMID:34849271|PMID:35314707|PMID:35796208|PMID:36034292|PMID:36034301|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10862088|PMID:11339651|PMID:12376936|PMID:15317752|PMID:16199547|PMID:17576681|PMID:17679671|PMID:19038966|PMID:20340139|PMID:21990111|PMID:22832778|PMID:23266810|PMID:24091540|PMID:25525159|PMID:25741868|PMID:26143525|PMID:28165011|PMID:28492532|PMID:29056246|PMID:29631617|PMID:29655203|PMID:30119717|PMID:30541466|PMID:30771299|PMID:31059981|PMID:31283065|PMID:31440721|PMID:31489614|PMID:33377563|PMID:34849271|PMID:36801247|PMID:38469103|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1603717	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome	PMID:10330339|PMID:20340139|PMID:25741868|PMID:26075876|PMID:28492532|PMID:29655203|PMID:30119717|PMID:36403551|PMID:9295267|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:480	movement disease		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:5679	retinal disease		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10330339|PMID:16199547|PMID:19038966|PMID:19201763|PMID:22832778|PMID:23266810|PMID:24091540|PMID:25741868|PMID:26467025|PMID:27604308|PMID:28492532|PMID:29056246|PMID:30541466|PMID:31489614|PMID:34849271
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:870	neuropathy		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:10397057|RGD:11603026|RGD:11603089|RGD:11620185|RGD:11634846|RGD:11645298|RGD:11646983|RGD:11654653|RGD:11663657|RGD:11664432	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11339651|PMID:12376936|PMID:15317752|PMID:17576681|PMID:17679671|PMID:20340139|PMID:21990111|PMID:25741868|PMID:28165011|PMID:28492532|PMID:29631617|PMID:30119717|PMID:30771299|PMID:36801247|PMID:9536098
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10330339|PMID:25741868|PMID:28492532|PMID:30541466
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603717	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10330339|PMID:11339651|PMID:12376936|PMID:16199547|PMID:18684116|PMID:23418007|PMID:23539563|PMID:25741868|PMID:26224725|PMID:26795593|PMID:28492532|PMID:28554332|PMID:29056246|PMID:30541466|PMID:30977854|PMID:31059981|PMID:31283065|PMID:31487502|PMID:32329550|PMID:32631363|PMID:33845243|PMID:9295267|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18283468|PMID:25741868|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603717	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12052103	SCUBE2	signal peptide, CUB domain and EGF like domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352842	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1605305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12052164	PRIM1	DNA primase subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1348091	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12052164	PRIM1	DNA primase subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9004216	PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME		ISO	RGD:1348091	D	RGD:7240710	20221221	OMIM			
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9004216	PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME	PMID:25741868|PMID:33060134|PMID:38773012
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052181	F7	coagulation factor VII	gene	DOID:0061030	hemophilia		ISO	RGD:1345586	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: Hemophilia	PMID:25741868
12052181	F7	coagulation factor VII	gene	DOID:0080941	acquired angioedema	disease_progression	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10450539|REF_RGD_ID:2312402
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:8123879|REF_RGD_ID:2312412
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:812575|REF_RGD_ID:2312323
12052181	F7	coagulation factor VII	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16159073
12052181	F7	coagulation factor VII	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:11776312|REF_RGD_ID:2312300
12052181	F7	coagulation factor VII	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	
12052181	F7	coagulation factor VII	gene	DOID:1247	blood coagulation disease		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:31064749
12052181	F7	coagulation factor VII	gene	DOID:1459	hypothyroidism		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:989968|REF_RGD_ID:2312322
12052181	F7	coagulation factor VII	gene	DOID:14735	hereditary angioedema	disease_progression	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12052181	F7	coagulation factor VII	gene	DOID:1588	thrombocytopenia	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:19175492|REF_RGD_ID:11049531
12052181	F7	coagulation factor VII	gene	DOID:1612	breast cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:19996301|REF_RGD_ID:11049547
12052181	F7	coagulation factor VII	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:31064749|PMID:33477601|PMID:38202056|PMID:38397060|PMID:8242057
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency		IAGP		D	RGD:12801476	20250806	OMIA		Factor VII deficiency	PMID:5045961|PMID:1788825|PMID:8128434|PMID:9196814|PMID:2896576|PMID:2870866|PMID:6469849|PMID:3436375|PMID:5416591|PMID:6075264|PMID:16961583|PMID:17939552|PMID:19712579|PMID:19293459|PMID:4449220|PMID:4830986|PMID:5527820|PMID:14477610|PMID:1799659|PMID:3207628|PMID:5027610|PMID:5677303|PMID:21216638|PMID:22108258|PMID:3282382|PMID:4604529|PMID:27525650|PMID:29035661|PMID:29708978|PMID:30661469|PMID:34544496|PMID:35949113|PMID:36780177|PMID:40719108
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency		ISO	RGD:1345586	D	RGD:7240710	20260812	OMIM			
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency		ISO	RGD:1345586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: FACTOR VII DEFICIENCY | ClinVar Annotator: match by term: Factor VII deficiency | ClinVar Annotator: match by term: Hypoproconvertinemia	PMID:10739380|PMID:10862079|PMID:10959697|PMID:11092214|PMID:11129332|PMID:11225604|PMID:11260055|PMID:11313743|PMID:12632035|PMID:15456489|PMID:15741795|PMID:15907525|PMID:17614823|PMID:18180623|PMID:18282149|PMID:18976247|PMID:19601987|PMID:19780835|PMID:21206266|PMID:21287501|PMID:21441234|PMID:22180436|PMID:22353194|PMID:22873696|PMID:22995991|PMID:23358202|PMID:23731332|PMID:24033266|PMID:24711753|PMID:24805822|PMID:25275492|PMID:25582404|PMID:25741868|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27341548|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29318701|PMID:30208845|PMID:30215666|PMID:31064749|PMID:31589614|PMID:32333443|PMID:33215792|PMID:33477601|PMID:34342048|PMID:34355501|PMID:35349734|PMID:35552711|PMID:35802509|PMID:36571800|PMID:36572978|PMID:36696193|PMID:36760778|PMID:36951360|PMID:37091489|PMID:37521340|PMID:37761907|PMID:38202056|PMID:38385952|PMID:38397060|PMID:38614915|PMID:40117674|PMID:7607584|PMID:7947828|PMID:7974346|PMID:8204879|PMID:8883260|PMID:8892729|PMID:8978290|PMID:9732992
12052181	F7	coagulation factor VII	gene	DOID:2235	prothrombin deficiency		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:2810399|REF_RGD_ID:2312318
12052181	F7	coagulation factor VII	gene	DOID:2349	arteriosclerosis	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:9569183|REF_RGD_ID:2312403
12052181	F7	coagulation factor VII	gene	DOID:2394	ovarian cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:ovarian surface epithelium (human)	PMID:19904262|REF_RGD_ID:11049516
12052181	F7	coagulation factor VII	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:14724430|REF_RGD_ID:1304286
12052181	F7	coagulation factor VII	gene	DOID:2841	asthma	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:24523826|REF_RGD_ID:11040539
12052181	F7	coagulation factor VII	gene	DOID:2913	acute pancreatitis	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:17506000|REF_RGD_ID:11049543
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:R353Q (human)	PMID:11334615|REF_RGD_ID:2312397
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:10599031|REF_RGD_ID:2312400
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:8522401|REF_RGD_ID:2312408
12052181	F7	coagulation factor VII	gene	DOID:3526	cerebral infarction		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:plasma (human)	PMID:14733777|REF_RGD_ID:11049518
12052181	F7	coagulation factor VII	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:21998055|REF_RGD_ID:11049520
12052181	F7	coagulation factor VII	gene	DOID:4195	hyperglycemia		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:3240844|REF_RGD_ID:2312413
12052181	F7	coagulation factor VII	gene	DOID:557	kidney disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:15608477|REF_RGD_ID:2312390
12052181	F7	coagulation factor VII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052181	F7	coagulation factor VII	gene	DOID:576	proteinuria		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased activity:plasma (human)	PMID:509177|REF_RGD_ID:2312414
12052181	F7	coagulation factor VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1345586	D	RGD:7240710	20260812	OMIM			
12052181	F7	coagulation factor VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1345586	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: F7-related condition | ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:10862079|PMID:11092214|PMID:11129332|PMID:12695753|PMID:15194538|PMID:15456489|PMID:15735798|PMID:18976247|PMID:19141157|PMID:19751712|PMID:22327826|PMID:23731332|PMID:25741868|PMID:25828579|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29318701|PMID:31064749|PMID:32333443|PMID:34272389|PMID:36571800|PMID:36696193|PMID:38387429|PMID:38397060|PMID:7974346|PMID:8844208
12052181	F7	coagulation factor VII	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345586	D	RGD:9068941	20260813	RGD		DNA:missense mutation, repeat:cds, intron:p.R353Q, (human)	PMID:9420338|REF_RGD_ID:11049521
12052181	F7	coagulation factor VII	gene	DOID:630	genetic disease		ISO	RGD:1345586	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12052181	F7	coagulation factor VII	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052181	F7	coagulation factor VII	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:10653827|REF_RGD_ID:2312399
12052181	F7	coagulation factor VII	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:10837382|REF_RGD_ID:2312398
12052181	F7	coagulation factor VII	gene	DOID:9000363	Hematuria		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17133240
12052181	F7	coagulation factor VII	gene	DOID:9000790	Postoperative Complications		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12707733
12052181	F7	coagulation factor VII	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:731512	D	RGD:9068941	20200609	RGD		mouse protein in a rat model	PMID:19357351|REF_RGD_ID:2312299
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:8458188|REF_RGD_ID:2312410
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:8250495|REF_RGD_ID:2312407
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:9187410|REF_RGD_ID:2312406
12052181	F7	coagulation factor VII	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:12095034|REF_RGD_ID:11049508
12052181	F7	coagulation factor VII	gene	DOID:9002557	Inherited Blood Coagulation Disease	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10469179|REF_RGD_ID:11041654
12052181	F7	coagulation factor VII	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16671457|PMID:21127298
12052181	F7	coagulation factor VII	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:16671457|REF_RGD_ID:11049545
12052181	F7	coagulation factor VII	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813
12052181	F7	coagulation factor VII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20172985
12052181	F7	coagulation factor VII	gene	DOID:9003356	Extrahepatic Portal Vein Obstruction		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:17660074|REF_RGD_ID:2312312
12052181	F7	coagulation factor VII	gene	DOID:9003646	Arterial Thrombosis	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:11167855|REF_RGD_ID:11049507
12052181	F7	coagulation factor VII	gene	DOID:9003646	Arterial Thrombosis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:12714830|REF_RGD_ID:11041657
12052181	F7	coagulation factor VII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14967414
12052181	F7	coagulation factor VII	gene	DOID:9003871	Venous Thrombosis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:16378835|REF_RGD_ID:11041650
12052181	F7	coagulation factor VII	gene	DOID:9004484	Sepsis		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (rat)	PMID:3660344|REF_RGD_ID:2312320
12052181	F7	coagulation factor VII	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:12000738|REF_RGD_ID:1598921
12052181	F7	coagulation factor VII	gene	DOID:9004562	Smoke Inhalation Injury		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:15204765|REF_RGD_ID:2312315
12052181	F7	coagulation factor VII	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1345586	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12052181	F7	coagulation factor VII	gene	DOID:9004992	Apnea		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868|PMID:31064749
12052181	F7	coagulation factor VII	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:31064749
12052181	F7	coagulation factor VII	gene	DOID:9005269	Stable Angina		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:17357481|REF_RGD_ID:11049525
12052181	F7	coagulation factor VII	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:31064749
12052181	F7	coagulation factor VII	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:11474472|REF_RGD_ID:2312396
12052181	F7	coagulation factor VII	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (rat)	PMID:16779662|REF_RGD_ID:2312313
12052181	F7	coagulation factor VII	gene	DOID:9005930	Endotoxemia		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:11092686|REF_RGD_ID:7394782
12052181	F7	coagulation factor VII	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:731512	D	RGD:9068941	20200609	RGD			PMID:16378835|REF_RGD_ID:11041650
12052181	F7	coagulation factor VII	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21127298
12052181	F7	coagulation factor VII	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:altered activity:plasma (rat)	PMID:2716922|REF_RGD_ID:2312392
12052181	F7	coagulation factor VII	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:19329212|REF_RGD_ID:2312379
12052181	F7	coagulation factor VII	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052181	F7	coagulation factor VII	gene	DOID:9007075	Congenital Prothrombin Deficiency		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged prothrombin time	
12052181	F7	coagulation factor VII	gene	DOID:9007622	Acute Subdural Hematoma		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12503044
12052181	F7	coagulation factor VII	gene	DOID:9007692	Insulin Resistance	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:9187410|REF_RGD_ID:2312406
12052181	F7	coagulation factor VII	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:22920553|REF_RGD_ID:11041662
12052181	F7	coagulation factor VII	gene	DOID:9008217	Hemorrhage		ISO	RGD:1345586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:25741868
12052181	F7	coagulation factor VII	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:colorectal mucosa (human)	PMID:22166631|REF_RGD_ID:11049522
12052181	F7	coagulation factor VII	gene	DOID:9008598	Traumatic Intracranial Hemorrhage		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20370756
12052181	F7	coagulation factor VII	gene	DOID:9256	colorectal cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:19062044|REF_RGD_ID:11049532
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:10910004|REF_RGD_ID:2312393
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:10899350|REF_RGD_ID:1598920
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:15258325|REF_RGD_ID:2312391
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11689270|REF_RGD_ID:2312382
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Brain Infarction; protein:increased activity:plasma (human)	PMID:18000605|REF_RGD_ID:2312380
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Kidney Failure; protein:increased expression:plasma (human)	PMID:15860378|REF_RGD_ID:2312383
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:17785358|REF_RGD_ID:2312381
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:14614217|REF_RGD_ID:2312394
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11137328|REF_RGD_ID:2312386
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10332679|REF_RGD_ID:2312388
12052181	F7	coagulation factor VII	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human)	PMID:10468085|REF_RGD_ID:2312401
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11146704|REF_RGD_ID:2312385
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:R353Q (human)	PMID:9686915|REF_RGD_ID:2312389
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Kidney Failure; protein:increased expression:plasma (human)	PMID:15860378|REF_RGD_ID:2312383
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity, expression:plasma (human)	PMID:11297753|REF_RGD_ID:2312384
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:14513073|REF_RGD_ID:2312395
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:9258277|REF_RGD_ID:2312404
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:16739871|REF_RGD_ID:1625710
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:19329212|REF_RGD_ID:2312379
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ductal carcinoma in situ	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060243	stuttering		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stuttering	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:20859559|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29346770|PMID:29469822|PMID:29959388|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31182298|PMID:31533111|PMID:33792302|PMID:37792958|PMID:38178226|PMID:38333672|PMID:39062695
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 2 | ClinVar Annotator: match by term: Noonan Syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome 2	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28135719|PMID:28191889|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31475041|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32059087|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33128510|PMID:33258288|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34645491|PMID:34853893|PMID:34913528|PMID:35101336|PMID:35352813|PMID:35840934|PMID:35982159|PMID:36113475|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39140257|PMID:39150540|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: LZTR1-related disorder | ClinVar Annotator: match by term: NOONAN SYNDROME 10 | ClinVar Annotator: match by term: Noonan syndrome 10	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26901136|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28492532|PMID:28973083|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31169934|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33413596|PMID:33644862|PMID:33792302|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34853893|PMID:34913528|PMID:35251316|PMID:35352813|PMID:35391499|PMID:35840934|PMID:35982159|PMID:36113475|PMID:36304179|PMID:36307859|PMID:36445254|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39434542|PMID:39472908|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acetabular dysplasia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1319250	D	RGD:7240710	20260805	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LZTR1-related schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 | ClinVar Annotator: match by term: Schwannomatosis-2, susceptibility to	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31475041|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:35101336|PMID:35131284|PMID:35251316|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35806449|PMID:35840934|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36413997|PMID:36445254|PMID:37436963|PMID:37936555|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39472908|PMID:40127276|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1319250	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:17576681|PMID:24362817|PMID:25480913|PMID:25741868|PMID:28492532|PMID:29469822|PMID:30442762|PMID:30442766|PMID:30859559|PMID:33644862|PMID:33792302|PMID:34913528|PMID:35840934|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080690	RASopathy		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:16199547|PMID:17357086|PMID:18948947|PMID:20301303|PMID:23917401|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:27921248|PMID:28017249|PMID:28492532|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29517885|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31128261|PMID:31182298|PMID:32623905|PMID:32981126|PMID:33258288|PMID:33792302|PMID:33897756|PMID:35101336|PMID:38178226|PMID:39062695|PMID:39140257
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:17576681|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:29493581|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:34184824|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:39039281
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10283	prostate cancer		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319250	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10907	microcephaly		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:33084842
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319250	D	RGD:9068941	20220415	RGD		DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human)	PMID:32004086|REF_RGD_ID:151708727
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319250	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:25961944
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23917401|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:32623905|PMID:33897756|PMID:35101336
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:39039281
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:2841	asthma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:9068941	20220415	RGD		DNA:mutations:multiple (human)	PMID:23917401|REF_RGD_ID:151708722
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319250	D	RGD:8554872	20241126	ClinVar		ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3192	neurilemmoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schwannoma	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schwannomatosis	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27921248|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30665374|PMID:30859559|PMID:31182298|PMID:33413596|PMID:33644862|PMID:33792302|PMID:34913528|PMID:35251316|PMID:35391499|PMID:35840934|PMID:36445254|PMID:37436963|PMID:38413718|PMID:38434521|PMID:39003740
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:16199547|PMID:20859559|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28135719|PMID:28492532|PMID:29346770|PMID:29469822|PMID:29959388|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31182298|PMID:31533111|PMID:33057194|PMID:33128510|PMID:33792302|PMID:35840934|PMID:35982159|PMID:36113475|PMID:37792958|PMID:38178226|PMID:38333672|PMID:39062695
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3690	brachial plexus neuropathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachial plexus neuropathy	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1319250	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3829	pituitary adenoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pituitary adenoma	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:4586	familial meningioma		ISO	RGD:1319250	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial multiple meningioma	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:24362817|PMID:25008767|PMID:25335493|PMID:25480913|PMID:25795793|PMID:28365909|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319250	D	RGD:9068941	20220421	RGD		DNA:missense mutation:cds, liver (human)	PMID:28622513|REF_RGD_ID:151893487
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24362817|PMID:25741868|PMID:25795793|PMID:28492532|PMID:30481304
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:39039281
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nonischemic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:32310333|PMID:35689529
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34853893|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25741905|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37600658|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:37600658|PMID:37936555|PMID:38654924|PMID:38982897|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36947458|PMID:37010288|PMID:37600658|PMID:37936555|PMID:38654924|PMID:38982897|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34308104|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36609239|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30325044|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33027564|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33644862|PMID:33792302|PMID:34113392|PMID:34184824|PMID:34308104|PMID:34401172|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35026164|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35695212|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:36445254|PMID:36609239|PMID:36947458|PMID:37010288|PMID:37436963|PMID:37600658|PMID:37936555|PMID:38135892|PMID:38178226|PMID:38217456|PMID:38413718|PMID:38434521|PMID:38654924|PMID:38982897|PMID:39003740|PMID:39062695|PMID:39140257|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34645488|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35726512|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:28973083|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31573083|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34645488|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35726512|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39434542|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17357086|PMID:17576681|PMID:18|PMID:18948947|PMID:2022|PMID:20301303|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24120142|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26901136|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28991257|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:29517885|PMID:29959388|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31573083|PMID:31825158|PMID:31883238|PMID:31980526|PMID:32004086|PMID:32059087|PMID:32368696|PMID:32502767|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33258288|PMID:33332384|PMID:33413596|PMID:33644862|PMID:33792302|PMID:33879870|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34401172|PMID:34626534|PMID:34853893|PMID:34913528|PMID:34958143|PMID:35101336|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35698239|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36110220|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36413997|PMID:36445254|PMID:36947458|PMID:37264205|PMID:37436963|PMID:37936555|PMID:38178226|PMID:38413718|PMID:38434521|PMID:39003740|PMID:39039281|PMID:39062695|PMID:39140257|PMID:39150540|PMID:39209702|PMID:39484914|PMID:40127276|PMID:40803040|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319250	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:39039281
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial dyskinesia	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:936	brain disease		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1319250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052222	SERPINE2	serpin family E member 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:70076	D	RGD:9068941	20250807	RGD		mRNA:increased expression: lung (human)	PMID:25199049|REF_RGD_ID:625778020
12052222	SERPINE2	serpin family E member 2	gene	DOID:10534	stomach cancer		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052222	SERPINE2	serpin family E member 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70076	D	RGD:9068941	20200609	RGD			PMID:2813392|REF_RGD_ID:2317937
12052222	SERPINE2	serpin family E member 2	gene	DOID:10763	hypertension		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood vessel	PMID:12524238|REF_RGD_ID:729767
12052222	SERPINE2	serpin family E member 2	gene	DOID:1909	melanoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052222	SERPINE2	serpin family E member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNPs:multiple	PMID:21436250|REF_RGD_ID:625781352
12052222	SERPINE2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNP, haplotypes::(rs16865421) A>G (human)	PMID:19949669|REF_RGD_ID:625781365
12052222	SERPINE2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNP:: (rs16865421) (human)	PMID:31215134|REF_RGD_ID:625781363
12052222	SERPINE2	serpin family E member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		DNA:SNPs,haplotypes:multiple (human)	PMID:16358219|PMID:17446335|PMID:21611750|REF_RGD_ID:625778022|REF_RGD_ID:625778023|REF_RGD_ID:625781364
12052222	SERPINE2	serpin family E member 2	gene	DOID:3275	thymoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052222	SERPINE2	serpin family E member 2	gene	DOID:4362	cervical cancer		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052222	SERPINE2	serpin family E member 2	gene	DOID:4724	brain edema		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:18442833|REF_RGD_ID:2317927
12052222	SERPINE2	serpin family E member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052222	SERPINE2	serpin family E member 2	gene	DOID:9002884	Emphysema	susceptibility	ISO	RGD:70076	D	RGD:9068941	20250814	RGD		associated with nicotine dependence;DNA:SNP:intron 5: (rs975278)(human)	PMID:21067581|REF_RGD_ID:625781355
12052222	SERPINE2	serpin family E member 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:70077	D	RGD:9068941	20250807	RGD			PMID:27876880|REF_RGD_ID:625776933
12052222	SERPINE2	serpin family E member 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3748	D	RGD:9068941	20200609	RGD			PMID:8261109|REF_RGD_ID:2317936
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:1115	sarcoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:3275	thymoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352549	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052265	NDRG4	NDRG family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052265	NDRG4	NDRG family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052265	NDRG4	NDRG family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052265	NDRG4	NDRG family member 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1332043	D	RGD:9068941	20200609	RGD			PMID:21636852|REF_RGD_ID:7247728
12052265	NDRG4	NDRG family member 4	gene	DOID:3068	glioblastoma		ISO	RGD:1353588	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain	PMID:22489821|REF_RGD_ID:7247726
12052265	NDRG4	NDRG family member 4	gene	DOID:3070	high grade glioma		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12052265	NDRG4	NDRG family member 4	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1353588	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:22399192|REF_RGD_ID:7247727
12052265	NDRG4	NDRG family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12052265	NDRG4	NDRG family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353588	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12052265	NDRG4	NDRG family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052265	NDRG4	NDRG family member 4	gene	DOID:687	hepatoblastoma		ISO	RGD:1353588	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
12052265	NDRG4	NDRG family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25167861
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:3275	thymoma		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1317566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:7240710	20200812	OMIM			
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NOVA2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	PMID:25741868
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052301	GLRX5	glutaredoxin 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052301	GLRX5	glutaredoxin 5	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1318119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12052301	GLRX5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
12052301	GLRX5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 3 | ClinVar Annotator: match by term: Sideroblastic anemia 3	PMID:25741868|PMID:28492532
12052301	GLRX5	glutaredoxin 5	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18637800
12052301	GLRX5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
12052301	GLRX5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLRX5-related condition | ClinVar Annotator: match by term: SPASTICITY, CHILDHOOD-ONSET, WITH HYPERGLYCINEMIA	PMID:25741868
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:0080815	childhood-onset asthma	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNPs::rs37969,rs37972,rs37973	PMID:33208131|REF_RGD_ID:628360900
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:10763	hypertension		ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		associated with end stage renal disease; DNA:SNP:promoter: rs37972	PMID:29224020|REF_RGD_ID:628359294
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:1115	sarcoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:1324	lung cancer		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:24131825|REF_RGD_ID:628359916
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347258	D	RGD:9068941	20250927	RGD			PMID:27133712|REF_RGD_ID:628359292
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:2841	asthma	severity	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:methylation:CpG	PMID:34529984|REF_RGD_ID:628360899
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1347258	D	RGD:9068941	20250927	RGD		DNA:SNP: :rs37973	PMID:29384926|REF_RGD_ID:628359291
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1347258	D	RGD:9068941	20250927	RGD		DNA:SNPs: :rs37972, rs37973, rs11976862	PMID:27133712|REF_RGD_ID:628359292
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:28186150|REF_RGD_ID:628359915
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9006771	Chronic Rhinosinusitis	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:30256538|REF_RGD_ID:628359914
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9007461	Chronic Lung Allograft Dysfunction	disease_progression	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP:promoter: rs37972	PMID:30229311|REF_RGD_ID:628359295
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:30256538|REF_RGD_ID:628359914
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:29981236|REF_RGD_ID:628359913
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9009382	eosinophilic chronic rhinosinusitis	treatment	ISO	RGD:1347258	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs37973	PMID:30256538|REF_RGD_ID:628359914
12052308	GLCCI1	glucocorticoid induced 1	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:1563612	D	RGD:9068941	20251002	RGD			PMID:27174202|REF_RGD_ID:11555245
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1604888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:1115	sarcoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:1324	lung cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:1909	melanoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:3275	thymoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:4362	cervical cancer		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1348168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052429	PCDH17	protocadherin 17	gene	DOID:10534	stomach cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052429	PCDH17	protocadherin 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052429	PCDH17	protocadherin 17	gene	DOID:1324	lung cancer		ISO	RGD:1312379	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052429	PCDH17	protocadherin 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1312379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052429	PCDH17	protocadherin 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052429	PCDH17	protocadherin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052429	PCDH17	protocadherin 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052429	PCDH17	protocadherin 17	gene	DOID:9256	colorectal cancer		ISO	RGD:1312379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346548	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:31594641
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:1324	lung cancer		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:3275	thymoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1346548	D	RGD:9068941	20200609	RGD		protein:increased activity:ventricle:	PMID:15297879|REF_RGD_ID:1556509
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1552365	D	RGD:9068941	20200609	RGD		protein:increased activity:heart:	PMID:15297879|REF_RGD_ID:1556509
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1359638	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver:	PMID:20828602|REF_RGD_ID:9698426
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052506	LOC102157295	atherin	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:735815	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES	PMID:25741868
12052506	LOC102157295	atherin	gene	DOID:2634	cystadenoma		ISO	RGD:735815	D	RGD:9068941	20220210	RGD		protein:increased expression:pancreas	PMID:19077459|REF_RGD_ID:2325696
12052506	LOC102157295	atherin	gene	DOID:9869	hereditary fructose intolerance syndrome		ISO	RGD:10139	D	RGD:9068941	20220210	RGD			PMID:25637246|REF_RGD_ID:13673876
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0014667	disease of metabolism		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19589179
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial partial lipodystrophy	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24291733|REF_RGD_ID:8553040
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050851	glomerulosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:11318962|REF_RGD_ID:8553043
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:69168	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:7240710	20180912	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PPARG MUTATIONS | ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 | ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 3 | ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy	PMID:10523018|PMID:10622252|PMID:12453919|PMID:12663460|PMID:14671186|PMID:15254591|PMID:17003330|PMID:21479595|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:27749844|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:35101336|PMID:36325899|PMID:36397776|PMID:38951919|PMID:9467001|PMID:9753710|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080322	polycystic kidney disease	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:21147840|REF_RGD_ID:14701037
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080600	COVID-19		ISO	RGD:69168	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA:increased expression:orbital fat (human)	PMID:14588098|REF_RGD_ID:8552818
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255338
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10622252|PMID:11788685|PMID:16412238|PMID:17312272|PMID:21479595|PMID:25157153|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776|PMID:9753710
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:269700	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10534	stomach cancer		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15562025|REF_RGD_ID:1580687
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34995009
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15993441|PMID:16407166|PMID:30328325
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18573313|REF_RGD_ID:2301852
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.P12A(human)	PMID:17440948|REF_RGD_ID:2311642
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1074	kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:rostral ventrolateral medulla (rat)	PMID:20404217|REF_RGD_ID:7175297
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15199296|PMID:19666838|PMID:27292124
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:12923396|REF_RGD_ID:1580690
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:18316027|REF_RGD_ID:2301864
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:17625041|REF_RGD_ID:8552895
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11613	hyperandrogenism		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary follicle (rat)	PMID:20813360|REF_RGD_ID:8553031
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11981	morbid obesity		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Morbid obesity	PMID:25157153|PMID:25741868|PMID:28492532|PMID:9753710
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human)	PMID:18417957|REF_RGD_ID:2301860
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:heart myocardium	PMID:18783396|REF_RGD_ID:2301868
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:12986	leukostasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	onset	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:18541841|REF_RGD_ID:2301854
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (rs1801282) (human)	PMID:23559865|REF_RGD_ID:8552820
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)	PMID:19125195|REF_RGD_ID:8699508
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:30651555|PMID:35101336
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1520	colon carcinoma		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1561	cognitive disorder	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human)	PMID:18639367|REF_RGD_ID:2301850
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11034103|PMID:11741176
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19152448|REF_RGD_ID:2317462
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:19436234|REF_RGD_ID:2317460
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1909	melanoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14512786|PMID:28962521
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18269830
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:increased expression:aortic sinus, endothelium (mouse)	PMID:15779851|REF_RGD_ID:8552894
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:219	colon cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:c.472delA (human)	PMID:10394368|REF_RGD_ID:1601444
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2349	arteriosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15967870|REF_RGD_ID:8553041
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11318962
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:299	adenocarcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11034103
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20623750|PMID:24011919|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:17494862|REF_RGD_ID:8553020
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:326	ischemia		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3393	coronary artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human)	PMID:21709632|REF_RGD_ID:8552814
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3407	carotid artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15284449|REF_RGD_ID:1580688
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19396032|REF_RGD_ID:2317461
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16809932
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:4989	pancreatitis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18583255|REF_RGD_ID:2301875
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:630	genetic disease		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16374840
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:27451128|REF_RGD_ID:14694822
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human)	PMID:18467141|REF_RGD_ID:2301857
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:811	lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy | ClinVar Annotator: match by term: lipodystrophy	PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8398	osteoarthritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8778	Crohn's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8893	psoriasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10815854
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		Retinal Leukostasis;associated with Diabetes Mellitus, Experimental	PMID:17003451|REF_RGD_ID:8552824
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20210794
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium	PMID:20021832|REF_RGD_ID:2317459
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000173	Eye Burns		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:cornea, neutrophil, macrophage (rat)	PMID:24194635|REF_RGD_ID:8552904
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15492468|PMID:19140230
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29162556
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000641	Pain		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18387855|REF_RGD_ID:2301890
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18511847|REF_RGD_ID:2301856
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3371	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18594976|REF_RGD_ID:2301874
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:22529699|REF_RGD_ID:8553190
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:16221712|REF_RGD_ID:13208600
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:18388116|REF_RGD_ID:2301862
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18780770|REF_RGD_ID:2301845
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:21425435|REF_RGD_ID:8552971
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium (rat)	PMID:15167281|REF_RGD_ID:8553039
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina (mouse)	PMID:18806296|REF_RGD_ID:2301844
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20540935
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18289512
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9003370	Dyslipidemias		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal mucosa (human)	PMID:17116814|REF_RGD_ID:8552811
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24011919|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15785241
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:16083301|REF_RGD_ID:8553030
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21153920
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004980	Chronobiology Disorders		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22899986
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:18479673|REF_RGD_ID:2301881
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:18455351|REF_RGD_ID:2301886
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19926821|PMID:21354099
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:altered expression:aorta, kidney cortex, retina	PMID:18641696|REF_RGD_ID:2301849
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12967931|PMID:16123366|PMID:21757225
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:18806296|REF_RGD_ID:2301844
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005782	Carotid Intimal Medial Thickness 1		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY	PMID:25157153|PMID:25741868|PMID:28492532|PMID:9753710
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005930	Endotoxemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine mucosa	PMID:21641970|REF_RGD_ID:5135029
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mouse gene in a rat model	PMID:19339015|REF_RGD_ID:8553019
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006447	Eye Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18658087|REF_RGD_ID:8552893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15785241
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:16183630|REF_RGD_ID:1580683
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:16186413|REF_RGD_ID:1580686
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:69169	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.P12A (human)	PMID:18959602|REF_RGD_ID:2301843
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143881
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:26599535|REF_RGD_ID:11554658
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052|PMID:21354099|PMID:21484566
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:12118251|REF_RGD_ID:1601446
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18562925|REF_RGD_ID:2301853
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489531
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9206	Barrett's esophagus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9351	diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: diabetes	PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10622252|PMID:11788685|PMID:16412238|PMID:17312272|PMID:21479595|PMID:25157153|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776|PMID:9753710
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (human)	PMID:9918859|REF_RGD_ID:8552822
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:18598350|REF_RGD_ID:2301851
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9455	lipid storage disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21123845
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899|PMID:9467001|PMID:9753710|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder	PMID:10523018|PMID:14671186|PMID:25157153|PMID:25741868|PMID:28492532|PMID:36325899|PMID:9467001|PMID:9753710|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:18683148|REF_RGD_ID:2301847
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12052585	TJP1	tight junction protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052585	TJP1	tight junction protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052585	TJP1	tight junction protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314849	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12052585	TJP1	tight junction protein 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1306305	D	RGD:9068941	20240801	RGD			PMID:23277536|REF_RGD_ID:407424596
12052585	TJP1	tight junction protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052585	TJP1	tight junction protein 1	gene	DOID:10825	essential hypertension		ISO	RGD:1314849	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
12052585	TJP1	tight junction protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052585	TJP1	tight junction protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052585	TJP1	tight junction protein 1	gene	DOID:13141	uveitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression, altered localization: corneal endothelium	PMID:18587491|REF_RGD_ID:2325139
12052585	TJP1	tight junction protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052585	TJP1	tight junction protein 1	gene	DOID:13580	cholestasis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18197414|REF_RGD_ID:2325141
12052585	TJP1	tight junction protein 1	gene	DOID:13976	peptic esophagitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19653339|REF_RGD_ID:2325133
12052585	TJP1	tight junction protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052585	TJP1	tight junction protein 1	gene	DOID:2316	brain ischemia		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:19712057|REF_RGD_ID:2325131
12052585	TJP1	tight junction protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052585	TJP1	tight junction protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12052585	TJP1	tight junction protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052585	TJP1	tight junction protein 1	gene	DOID:4606	bile duct cancer		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:bile duct	PMID:19184677|REF_RGD_ID:2325030
12052585	TJP1	tight junction protein 1	gene	DOID:4724	brain edema		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:25741868
12052585	TJP1	tight junction protein 1	gene	DOID:4948	gallbladder carcinoma		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:gallbladder	PMID:19184677|REF_RGD_ID:2325030
12052585	TJP1	tight junction protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314849	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052585	TJP1	tight junction protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052585	TJP1	tight junction protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052585	TJP1	tight junction protein 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19390485|REF_RGD_ID:2317627
12052585	TJP1	tight junction protein 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:18854840|REF_RGD_ID:2325137
12052585	TJP1	tight junction protein 1	gene	DOID:9000641	Pain		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associated with Inflammation;protein:increased expression:brain	PMID:19319146|REF_RGD_ID:2325136
12052585	TJP1	tight junction protein 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19889224|REF_RGD_ID:2325128
12052585	TJP1	tight junction protein 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:18848892|REF_RGD_ID:2325138
12052585	TJP1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19929946|REF_RGD_ID:2325127
12052585	TJP1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, endothelial cell	PMID:19374856|REF_RGD_ID:2325135
12052585	TJP1	tight junction protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
12052585	TJP1	tight junction protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052585	TJP1	tight junction protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052585	TJP1	tight junction protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052585	TJP1	tight junction protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314850	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
12052585	TJP1	tight junction protein 1	gene	DOID:936	brain disease		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associate with Pancreatitis, Acute Necrotizing	PMID:19712057|REF_RGD_ID:2325131
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:1909	melanoma		ISO	RGD:1604846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1604846	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1604846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605713	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605713	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:11830	myopia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:1826	epilepsy		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1314539	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1314539	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941191
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:25741868
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9004327	Colpocephaly		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ataxia	PMID:25741868|PMID:28097321
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:7240710	20190315	OMIM			
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HACE1-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures | ClinVar Annotator: match by term: Spastic paraplegia-severe developmental delay-epilepsy syndrome	PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:30202406|PMID:32581362|PMID:36553453
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:26424145|PMID:26437029|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050650	familial atrial fibrillation		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial atrial fibrillation	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:35087879|PMID:38473809|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1320894	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Miyoshi myopathy 3	PMID:25326637|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:7240710	20180130	OMIM			
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1JJ | ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition	PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:23274168|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28750076|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30165862|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31514951|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:35087879|PMID:35947370|PMID:36252119|PMID:38473809|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110461	dilated cardiomyopathy 3B		ISO	RGD:1320894	D	RGD:8554872	20240903	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 3B	PMID:25741868
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:1324	lung cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35087879|PMID:38473809|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:1909	melanoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:219	colon cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:28492532|PMID:30847666
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320894	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:630	genetic disease		ISO	RGD:1320894	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1320894	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:17576681|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9834	hyperopia		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:25741868|PMID:28492532
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:733154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21228734
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:8398	osteoarthritis		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9002730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE		ISO	RGD:733154	D	RGD:7240710	20221221	OMIM			
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9002730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE		ISO	RGD:733154	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	PMID:25741868
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052747	DENND6A	DENN domain containing 6A	gene	DOID:1909	melanoma		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052747	DENND6A	DENN domain containing 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052747	DENND6A	DENN domain containing 6A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606682	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052747	DENND6A	DENN domain containing 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602728	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1602728	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32659284
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052824	AK2	adenylate kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052824	AK2	adenylate kinase 2	gene	DOID:0060020	reticular dysgenesis		ISO	RGD:735291	D	RGD:7240710	20180130	OMIM			
12052824	AK2	adenylate kinase 2	gene	DOID:0060020	reticular dysgenesis		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DeVaal disease | ClinVar Annotator: match by term: RETICULAR DYSGENESIS | ClinVar Annotator: match by term: Reticular dysgenesis	PMID:16199547|PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:27913909|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29641561|PMID:29713328|PMID:30290665|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:38578360|PMID:9536098
12052824	AK2	adenylate kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:735291	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12052824	AK2	adenylate kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052824	AK2	adenylate kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052824	AK2	adenylate kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12052824	AK2	adenylate kinase 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2077	D	RGD:9068941	20200609	RGD			PMID:22246993|REF_RGD_ID:11100024
12052824	AK2	adenylate kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:34814161
12052824	AK2	adenylate kinase 2	gene	DOID:630	genetic disease		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052824	AK2	adenylate kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12052824	AK2	adenylate kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12052824	AK2	adenylate kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052824	AK2	adenylate kinase 2	gene	DOID:9008681	Deafness		ISO	RGD:735291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19043416
12052824	AK2	adenylate kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0060058	lymphoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061203	maple syrup urine disease type IA		ISO	RGD:68592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:1547285|PMID:16579849|PMID:16786533|PMID:17576681|PMID:20570198|PMID:25525159|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702|PMID:9536098
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061207	maple syrup urine disease type II		ISO	RGD:68592	D	RGD:7240710	20240214	OMIM			
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:0061207	maple syrup urine disease type II		ISO	RGD:68592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DBT-related disorder | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE II | ClinVar Annotator: match by term: Maple syrup urine disease type 2 | ClinVar Annotator: match by term: Maple syrup urine disease, type II	PMID:14517957|PMID:1547285|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:19823873|PMID:20307994|PMID:20639189|PMID:24516753|PMID:25525159|PMID:25741868|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32712949|PMID:32812330|PMID:35799415|PMID:8430702|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:10534	stomach cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:1115	sarcoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:2394	ovarian cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:4362	cervical cancer		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:6039	uveal melanoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:630	genetic disease		ISO	RGD:68592	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008385	Vomiting		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008617	Lethargy		ISO	RGD:68592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:16579849|PMID:16786533|PMID:25741868|PMID:28492532|PMID:32812330|PMID:8430702
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14741190|PMID:14742428|PMID:1547285|PMID:16199547|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:19480318|PMID:20307994|PMID:20570198|PMID:21098507|PMID:22090376|PMID:23313820|PMID:24268812|PMID:24304607|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27896100|PMID:28492532|PMID:30228974|PMID:31112740|PMID:31119508|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33868929|PMID:37701324|PMID:8430702|PMID:9536098|PMID:9609836
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12052885	OSR1	odd-skipped related transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:1324	lung cancer		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:1909	melanoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12052903	TTL	tubulin tyrosine ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733150	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:10283	prostate cancer		ISO	RGD:733150	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:10283	prostate cancer		ISO	RGD:733150	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:10534	stomach cancer		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:733150	D	RGD:9068941	20220616	RGD		DNA:SNPs:: (rs9547991, rs978156) (human)	PMID:27617218|REF_RGD_ID:152995362
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:3070	high grade glioma		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:9001820	Pulmonary Arterial Hypertension	ameliorates	ISO	XCO:0000010|XCO:0000922	D	RGD:9068941	20220210	RGD			PMID:24113457|REF_RGD_ID:150429956
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:9008820	Visceral Pain		ISO	RGD:621276	D	RGD:9068941	20200609	RGD			PMID:24388923|REF_RGD_ID:13825245
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050451	Brugada syndrome		ISO	RGD:732576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:25637381|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25650408|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050793	short QT syndrome		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short QT Syndrome 5	PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:732576	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:7240710	20180130	OMIM			
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 4 | ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition	PMID:17576681|PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24752249|PMID:25637381|PMID:25741868|PMID:26220970|PMID:27662471|PMID:27707468|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:30415094|PMID:30847666|PMID:30975432|PMID:31887354|PMID:9536098
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10273	heart conduction disease		ISO	RGD:732576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Conduction system disorder	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4373814(human)	PMID:24338417|REF_RGD_ID:13513987
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:20817017|PMID:22090166|PMID:23414114|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27711072|PMID:28492532|PMID:30821013|PMID:30847666
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy	severity	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)	PMID:28614222|REF_RGD_ID:13513985
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:219	colon cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:2843	long QT syndrome		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732576	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23861362|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9003740	Nerve Injuries		ISO	RGD:67385	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion,spindal cord:	PMID:22187436|REF_RGD_ID:13514092
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007820	Sudden Death		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318780	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12052967	CSK	C-terminal Src kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052967	CSK	C-terminal Src kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12052967	CSK	C-terminal Src kinase	gene	DOID:1909	melanoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12052967	CSK	C-terminal Src kinase	gene	DOID:2723	dermatitis		ISO	RGD:1318781	D	RGD:9068941	20200609	RGD			PMID:14975240|REF_RGD_ID:5134363
12052967	CSK	C-terminal Src kinase	gene	DOID:3275	thymoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12052967	CSK	C-terminal Src kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12052967	CSK	C-terminal Src kinase	gene	DOID:552	pneumonia		ISO	RGD:1318781	D	RGD:9068941	20200609	RGD			PMID:14975240|REF_RGD_ID:5134363
12052967	CSK	C-terminal Src kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052967	CSK	C-terminal Src kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318780	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12052967	CSK	C-terminal Src kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:9918913|REF_RGD_ID:5134372
12052967	CSK	C-terminal Src kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318780	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:9918913|REF_RGD_ID:5134372
12052967	CSK	C-terminal Src kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1318780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16769263
12052967	CSK	C-terminal Src kinase	gene	DOID:9002221	Hyperplasia		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:large intestine mucosa	PMID:15961079|REF_RGD_ID:5134365
12052967	CSK	C-terminal Src kinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD			PMID:10411542|REF_RGD_ID:5134371
12052967	CSK	C-terminal Src kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052967	CSK	C-terminal Src kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12052967	CSK	C-terminal Src kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042117
12052967	CSK	C-terminal Src kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12052990	PPEF2	protein phosphatase with EF-hand domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316080	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12052990	PPEF2	protein phosphatase with EF-hand domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12052990	PPEF2	protein phosphatase with EF-hand domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12052990	PPEF2	protein phosphatase with EF-hand domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053017	CRYGA	crystallin gamma A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053017	CRYGA	crystallin gamma A	gene	DOID:83	cataract		ISO	RGD:10406	D	RGD:9068941	20260521	MouseDO		OMIM:601371	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:1324	lung cancer		ISO	RGD:1321512	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053054	ARF6	ADP ribosylation factor 6	gene	DOID:1059	intellectual disability		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12053054	ARF6	ADP ribosylation factor 6	gene	DOID:1115	sarcoma		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053054	ARF6	ADP ribosylation factor 6	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604980	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053060	MAMDC4	MAM domain containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1604980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:733583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735711	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0080074	neural tube defect		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20641098
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:10783	methemoglobinemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12030840
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:13580	cholestasis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1380	endometrial cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)	PMID:18497059|REF_RGD_ID:2301045
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1596	depressive disorder		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:20595028|REF_RGD_ID:4892242
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1612	breast cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005)	PMID:18497059|REF_RGD_ID:2301045
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:2529	splenic disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:10438	D	RGD:9068941	20200609	RGD			PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20797314
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-3860G>A (human)	PMID:20080081|REF_RGD_ID:4293707
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11153915
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	RGD			PMID:20957336|REF_RGD_ID:11576316
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:409	liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12969438
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:735711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD			PMID:34958945|REF_RGD_ID:401900155
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9000310	Lung Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25703676
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001312	Tardive Dyskinesia	treatment	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		associated with schizophrenia	PMID:10889552|REF_RGD_ID:1358545
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11376689|PMID:21147764
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004462	Atrophy		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004484	Sepsis		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:8502229|REF_RGD_ID:11576308
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:18442205|REF_RGD_ID:2303375
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006575	Vitamin E Deficiency	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28762043
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		Associated with incense smoke exposure;mRNA:increased expression:heart (rat)	PMID:25687613|REF_RGD_ID:401900684
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		associated with nitrate tolerance; protein:decreased expression:thoracic aorta (rat)	PMID:12688525|REF_RGD_ID:401900656
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007703	Phenacetin O-Deethylase, Deficiency of		IAGP		D	RGD:12801476	20250924	OMIA		Metabolizer of a cognitive enhancer	PMID:15564884|PMID:14744947|PMID:15742977|PMID:16882764|PMID:16473917|PMID:37144920|PMID:37317989|PMID:37582787|PMID:40765748|PMID:40965331
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2459	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21081473
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9008691	Liver Injury		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:26590097|REF_RGD_ID:11576319
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22244987
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
12053130	CRYGS	crystallin gamma S	gene	DOID:0110240	cataract 20 multiple types		ISO	RGD:1320030	D	RGD:7240710	20180130	OMIM			
12053130	CRYGS	crystallin gamma S	gene	DOID:0110240	cataract 20 multiple types		ISO	RGD:1320030	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 20, MULTIPLE TYPES | ClinVar Annotator: match by term: Cataract 20 multiple types | ClinVar Annotator: match by term: cataract 20 multiple types	PMID:16141006|PMID:17576681|PMID:18587492|PMID:25741868|PMID:28450710|PMID:28492532|PMID:29964096|PMID:32234236|PMID:33004175|PMID:9536098
12053130	CRYGS	crystallin gamma S	gene	DOID:630	genetic disease		ISO	RGD:1320030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12053130	CRYGS	crystallin gamma S	gene	DOID:83	cataract		ISO	RGD:1320030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Membranous cataract	PMID:25741868|PMID:28492532
12053130	CRYGS	crystallin gamma S	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:1909	melanoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053171	ZNF704	zinc finger protein 704	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053171	ZNF704	zinc finger protein 704	gene	DOID:4362	cervical cancer		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053171	ZNF704	zinc finger protein 704	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605749	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:10534	stomach cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:1324	lung cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:1909	melanoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:4362	cervical cancer		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053252	LOC100687722	ribosomal protein, large, P1 pseudogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053252	LOC100687722	ribosomal protein, large, P1 pseudogene	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053252	LOC100687722	ribosomal protein, large, P1 pseudogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:10907	microcephaly		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053283	MIR136	microRNA mir-136	gene	DOID:1324	lung cancer		ISO	RGD:1608336	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12053283	MIR136	microRNA mir-136	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220915	RGD		human cells in mouse model	PMID:34258296|REF_RGD_ID:153350142
12053283	MIR136	microRNA mir-136	gene	DOID:219	colon cancer		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:colon (human)	PMID:28710032|REF_RGD_ID:153344627
12053283	MIR136	microRNA mir-136	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1349910	D	RGD:9068941	20220902	RGD		RNA:decreased expression:colon (human)	PMID:29339925|REF_RGD_ID:153345546
12053283	MIR136	microRNA mir-136	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:larynx (human)	PMID:32014687|REF_RGD_ID:153344610
12053283	MIR136	microRNA mir-136	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:lung (human)	PMID:31059060|REF_RGD_ID:153344623
12053283	MIR136	microRNA mir-136	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220915	RGD		human cells in mouse model	PMID:34556984|REF_RGD_ID:153344608
12053283	MIR136	microRNA mir-136	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12053283	MIR136	microRNA mir-136	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1349910	D	RGD:9068941	20220902	RGD		RNA:decreased expression:liver (human)	PMID:28849100|REF_RGD_ID:153345547
12053283	MIR136	microRNA mir-136	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		associated with stomach cancer;human cells in mouse model	PMID:28656883|REF_RGD_ID:153344628
12053283	MIR136	microRNA mir-136	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12053283	MIR136	microRNA mir-136	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20643829
12053283	MIR136	microRNA mir-136	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12053351	CAPSL	calcyphosine like	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1552171	D	RGD:9068941	20250605	MouseDO			
12053351	CAPSL	calcyphosine like	gene	DOID:12849	autistic disorder		ISO	RGD:1601932	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12053351	CAPSL	calcyphosine like	gene	DOID:4362	cervical cancer		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053351	CAPSL	calcyphosine like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053351	CAPSL	calcyphosine like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0050544	hypermethioninemia		ISO	RGD:731745	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:26974671
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29127188
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:7240710	20180130	OMIM			
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AHCY-related disorder | ClinVar Annotator: match by term: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	PMID:15024124|PMID:16736098|PMID:17576681|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:26095522|PMID:28492532|PMID:28647132|PMID:29205322|PMID:30121674|PMID:9536098
12053380	AHCY	adenosylhomocysteinase	gene	DOID:10534	stomach cancer		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:1059	intellectual disability		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:10763	hypertension		ISO	RGD:736014	D	RGD:9068941	20200609	RGD		associated with hyperhomocysteinemia	PMID:16815886|REF_RGD_ID:1601153
12053380	AHCY	adenosylhomocysteinase	gene	DOID:1283	enterocele		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:12849	autistic disorder		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:13250	diarrhea		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:13620	patent foramen ovale		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:1697	ichthyosis		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:1826	epilepsy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12053380	AHCY	adenosylhomocysteinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:423	myopathy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:630	genetic disease		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:767	muscular atrophy		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:731745	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human)	PMID:18635682|REF_RGD_ID:329853746
12053380	AHCY	adenosylhomocysteinase	gene	DOID:8455	pyridoxine deficiency anemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11575573|REF_RGD_ID:1598897
12053380	AHCY	adenosylhomocysteinase	gene	DOID:893	Wilson disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:731745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:16736098|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9001510	Funnel Chest		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11123369|REF_RGD_ID:1598898
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002554	Tachycardia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002669	Hypoxia		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002969	Nevus		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9003703	Coxa Valga		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9007001	Bradycardia		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024124
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:12208805|REF_RGD_ID:1598896
12053380	AHCY	adenosylhomocysteinase	gene	DOID:936	brain disease		ISO	RGD:731745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132
12053393	CD40	CD40 molecule	gene	DOID:0050169	cutaneous lupus erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:0050175	tick-borne encephalitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
12053393	CD40	CD40 molecule	gene	DOID:0050185	erythema multiforme		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053393	CD40	CD40 molecule	gene	DOID:0050745	diffuse large B-cell lymphoma	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20473910|REF_RGD_ID:5490541
12053393	CD40	CD40 molecule	gene	DOID:0050873	follicular lymphoma	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20473910|REF_RGD_ID:5490541
12053393	CD40	CD40 molecule	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, monocyte (human)	PMID:17805323|REF_RGD_ID:11520793
12053393	CD40	CD40 molecule	gene	DOID:0051061	stroke		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:20456428|REF_RGD_ID:5490543
12053393	CD40	CD40 molecule	gene	DOID:0060022	CD40 ligand deficiency		ISO	RGD:1604657	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM	PMID:25741868|PMID:29884852
12053393	CD40	CD40 molecule	gene	DOID:0060023	immunodeficiency with hyper IgM type 3		ISO	RGD:1604657	D	RGD:7240710	20190911	OMIM			
12053393	CD40	CD40 molecule	gene	DOID:0060023	immunodeficiency with hyper IgM type 3		ISO	RGD:1604657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3	PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:24033266|PMID:25741868|PMID:28492532
12053393	CD40	CD40 molecule	gene	DOID:0060060	non-Hodgkin lymphoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19636010|REF_RGD_ID:11522746
12053393	CD40	CD40 molecule	gene	DOID:0060180	colitis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:15591506|REF_RGD_ID:5508169
12053393	CD40	CD40 molecule	gene	DOID:0060224	atrial fibrillation	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:17392495|REF_RGD_ID:8547746
12053393	CD40	CD40 molecule	gene	DOID:0060903	thrombosis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21914625|REF_RGD_ID:5490522
12053393	CD40	CD40 molecule	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:18566369|PMID:19265127|PMID:23799000|REF_RGD_ID:7248418|REF_RGD_ID:7248425|REF_RGD_ID:7248429
12053393	CD40	CD40 molecule	gene	DOID:0080544	hyper IgM syndrome		ISO	RGD:1604657	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12053393	CD40	CD40 molecule	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:18981161|REF_RGD_ID:7248735
12053393	CD40	CD40 molecule	gene	DOID:10223	dermatomyositis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:10591	pre-eclampsia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, monocyte (human)	PMID:19221099|REF_RGD_ID:11520792
12053393	CD40	CD40 molecule	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21414686|REF_RGD_ID:5490302
12053393	CD40	CD40 molecule	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:23223173|REF_RGD_ID:8547786
12053393	CD40	CD40 molecule	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23223173|REF_RGD_ID:8547786
12053393	CD40	CD40 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053393	CD40	CD40 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053393	CD40	CD40 molecule	gene	DOID:11263	chlamydia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20102413|REF_RGD_ID:5132268
12053393	CD40	CD40 molecule	gene	DOID:11339	pneumocystosis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10968950|REF_RGD_ID:8547797
12053393	CD40	CD40 molecule	gene	DOID:12053	cryptococcosis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:16552046|REF_RGD_ID:7248435
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:-1C>T (human)	PMID:12593727|REF_RGD_ID:8547766
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:-1C>T (human)	PMID:15307939|REF_RGD_ID:8547769
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease	onset	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:18755875|REF_RGD_ID:8547778
12053393	CD40	CD40 molecule	gene	DOID:12365	malaria	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:11485931|REF_RGD_ID:11352239
12053393	CD40	CD40 molecule	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:9495297|REF_RGD_ID:13702889
12053393	CD40	CD40 molecule	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:14569091|REF_RGD_ID:7248599
12053393	CD40	CD40 molecule	gene	DOID:13378	Kawasaki disease		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446961|PMID:22446962
12053393	CD40	CD40 molecule	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)	PMID:22645426|REF_RGD_ID:8547776
12053393	CD40	CD40 molecule	gene	DOID:1790	malignant mesothelioma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:22002241|REF_RGD_ID:11522742
12053393	CD40	CD40 molecule	gene	DOID:1824	status epilepticus		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18455351
12053393	CD40	CD40 molecule	gene	DOID:1909	melanoma		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053393	CD40	CD40 molecule	gene	DOID:1909	melanoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:17327609|REF_RGD_ID:11522745
12053393	CD40	CD40 molecule	gene	DOID:1909	melanoma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:22421945|REF_RGD_ID:11522740
12053393	CD40	CD40 molecule	gene	DOID:1936	atherosclerosis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta	PMID:20505314|REF_RGD_ID:5490534
12053393	CD40	CD40 molecule	gene	DOID:1936	atherosclerosis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
12053393	CD40	CD40 molecule	gene	DOID:2018	hyperinsulinism		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15795333|REF_RGD_ID:11352234
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525955
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20634952|REF_RGD_ID:5490971
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)	PMID:20190274|REF_RGD_ID:5490975
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19159017|PMID:19220210|REF_RGD_ID:4144188|REF_RGD_ID:5132272
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20941750|REF_RGD_ID:4892277
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:20205594|REF_RGD_ID:8547792
12053393	CD40	CD40 molecule	gene	DOID:2942	bronchiolitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19470255|REF_RGD_ID:5132271
12053393	CD40	CD40 molecule	gene	DOID:2959	hyperimmunoglobulin syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:mutations:exons (human)	PMID:11675497|REF_RGD_ID:1599479
12053393	CD40	CD40 molecule	gene	DOID:2972	renal artery obstruction	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:23399713|REF_RGD_ID:7248419
12053393	CD40	CD40 molecule	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:24878890|REF_RGD_ID:11352275
12053393	CD40	CD40 molecule	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20699612|REF_RGD_ID:5490968
12053393	CD40	CD40 molecule	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18693155|REF_RGD_ID:5132274
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:21436454|REF_RGD_ID:5490301
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:dendritic cell	PMID:20976171|REF_RGD_ID:5490524
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21436454|REF_RGD_ID:5490301
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:23983255|REF_RGD_ID:11522743
12053393	CD40	CD40 molecule	gene	DOID:3892	insulinoma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:17982058|REF_RGD_ID:5491180
12053393	CD40	CD40 molecule	gene	DOID:3951	acute myocarditis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:9495297|REF_RGD_ID:13702889
12053393	CD40	CD40 molecule	gene	DOID:4195	hyperglycemia		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:12594303|PMID:15282531|PMID:20426873|REF_RGD_ID:11522744|REF_RGD_ID:7248440|REF_RGD_ID:7248724
12053393	CD40	CD40 molecule	gene	DOID:4481	allergic rhinitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte	PMID:19086656|REF_RGD_ID:8547782
12053393	CD40	CD40 molecule	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15210767|REF_RGD_ID:7248442
12053393	CD40	CD40 molecule	gene	DOID:5050	Ehrlich tumor carcinoma	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:19269163|REF_RGD_ID:11352683
12053393	CD40	CD40 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasmacytoid dendritic cell	PMID:20559432|REF_RGD_ID:5490533
12053393	CD40	CD40 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053393	CD40	CD40 molecule	gene	DOID:630	genetic disease		ISO	RGD:1604657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12053393	CD40	CD40 molecule	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25998782|REF_RGD_ID:11344970
12053393	CD40	CD40 molecule	gene	DOID:707	B-cell lymphoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794853|PMID:20453842|PMID:23143596
12053393	CD40	CD40 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4810485 (human)	PMID:20498205|REF_RGD_ID:5490972
12053393	CD40	CD40 molecule	gene	DOID:783	end stage renal disease	severity	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20846521|REF_RGD_ID:7248723
12053393	CD40	CD40 molecule	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:12941150|REF_RGD_ID:7248709
12053393	CD40	CD40 molecule	gene	DOID:7998	hyperthyroidism	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:16756463|REF_RGD_ID:8547761
12053393	CD40	CD40 molecule	gene	DOID:8283	peritonitis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15780086|REF_RGD_ID:7248438
12053393	CD40	CD40 molecule	gene	DOID:848	arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human)	PMID:23256180|REF_RGD_ID:7248721
12053393	CD40	CD40 molecule	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, dendritic cell (human)	PMID:16527350|REF_RGD_ID:11520794
12053393	CD40	CD40 molecule	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7621881
12053393	CD40	CD40 molecule	gene	DOID:8577	ulcerative colitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine, epithelial cell	PMID:20133813|REF_RGD_ID:5490590
12053393	CD40	CD40 molecule	gene	DOID:8584	Burkitt lymphoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:9192773|REF_RGD_ID:11520790
12053393	CD40	CD40 molecule	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD		protein:decreased expression:ileum	PMID:21240009|REF_RGD_ID:5490305
12053393	CD40	CD40 molecule	gene	DOID:874	bacterial pneumonia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20102413|REF_RGD_ID:5132268
12053393	CD40	CD40 molecule	gene	DOID:8778	Crohn's disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine, epithelial cell	PMID:20133813|REF_RGD_ID:5490590
12053393	CD40	CD40 molecule	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20634952|REF_RGD_ID:5490971
12053393	CD40	CD40 molecule	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs4810485) (human)	PMID:21645569|REF_RGD_ID:5490300
12053393	CD40	CD40 molecule	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:8952530|REF_RGD_ID:8547772
12053393	CD40	CD40 molecule	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, B lymphocyte (human)	PMID:17654056|REF_RGD_ID:11344977
12053393	CD40	CD40 molecule	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human)	PMID:21912605|REF_RGD_ID:8547780
12053393	CD40	CD40 molecule	gene	DOID:9000403	Animal Mammary Neoplasms	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15922965|REF_RGD_ID:8547789
12053393	CD40	CD40 molecule	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10440754|REF_RGD_ID:13702887
12053393	CD40	CD40 molecule	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:619830	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21574786|REF_RGD_ID:7248754
12053393	CD40	CD40 molecule	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21574786|REF_RGD_ID:7248754
12053393	CD40	CD40 molecule	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23924471|REF_RGD_ID:7248749
12053393	CD40	CD40 molecule	gene	DOID:9001488	Human Influenza		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:19922665|REF_RGD_ID:5132270
12053393	CD40	CD40 molecule	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:rs1883832 (human)	PMID:21091218|REF_RGD_ID:5490523
12053393	CD40	CD40 molecule	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:22826618|REF_RGD_ID:11352297
12053393	CD40	CD40 molecule	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:14741776|REF_RGD_ID:8547795
12053393	CD40	CD40 molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25297507|REF_RGD_ID:13702884
12053393	CD40	CD40 molecule	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20435931|REF_RGD_ID:5490544
12053393	CD40	CD40 molecule	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15210767|REF_RGD_ID:7248442
12053393	CD40	CD40 molecule	gene	DOID:9002869	Schistosomiasis Mansoni	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10623823|REF_RGD_ID:11520789
12053393	CD40	CD40 molecule	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20226305|REF_RGD_ID:5132269
12053393	CD40	CD40 molecule	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:12388354|REF_RGD_ID:5508171
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:15221125|REF_RGD_ID:7248441
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:14698004|REF_RGD_ID:8547788
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21472009|REF_RGD_ID:7248755
12053393	CD40	CD40 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:decreased nitrosylation:monocyte	PMID:20473113|REF_RGD_ID:5490974
12053393	CD40	CD40 molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21137078|REF_RGD_ID:8547744
12053393	CD40	CD40 molecule	gene	DOID:9005372	Inflammation		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:17804565|REF_RGD_ID:8547791
12053393	CD40	CD40 molecule	gene	DOID:9005930	Endotoxemia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		protein:decreased nitrosylation:macrophage	PMID:20473113|REF_RGD_ID:5490974
12053393	CD40	CD40 molecule	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25993320|REF_RGD_ID:11251055
12053393	CD40	CD40 molecule	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Coronary Artery Disease	PMID:16494885|REF_RGD_ID:7248436
12053393	CD40	CD40 molecule	gene	DOID:9006372	Animal Helminthiasis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		protein:increased expression:plasmacytoid dendritic cell	PMID:20702728|REF_RGD_ID:5490530
12053393	CD40	CD40 molecule	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome	susceptibility	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:12438641|REF_RGD_ID:11520795
12053393	CD40	CD40 molecule	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:17188497|REF_RGD_ID:5491181
12053393	CD40	CD40 molecule	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:9006939	Lyme Neuroborreliosis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
12053393	CD40	CD40 molecule	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:19565716|REF_RGD_ID:11352677
12053393	CD40	CD40 molecule	gene	DOID:9007110	Subacute Combined Degeneration		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
12053393	CD40	CD40 molecule	gene	DOID:9007110	Subacute Combined Degeneration	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
12053393	CD40	CD40 molecule	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17558708|REF_RGD_ID:8547767
12053393	CD40	CD40 molecule	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:9007899	Animal Viral Hepatitis	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21360722|REF_RGD_ID:5490303
12053393	CD40	CD40 molecule	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19202131|REF_RGD_ID:5132273
12053393	CD40	CD40 molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043144
12053393	CD40	CD40 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3765456 (human)	PMID:23256180|REF_RGD_ID:7248721
12053393	CD40	CD40 molecule	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4810485 (human)	PMID:21914625|REF_RGD_ID:5490522
12053393	CD40	CD40 molecule	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:14573667|REF_RGD_ID:8547750
12053393	CD40	CD40 molecule	gene	DOID:9182	pemphigus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:21255096|REF_RGD_ID:5490304
12053393	CD40	CD40 molecule	gene	DOID:9201	lichen planus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:9513	plasma cell leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:10866315|REF_RGD_ID:11522720
12053393	CD40	CD40 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22505539|REF_RGD_ID:6893375
12053393	CD40	CD40 molecule	gene	DOID:9970	obesity		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:9970	obesity	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21670556|REF_RGD_ID:7248753
12053393	Cd40	CD40 molecule	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23984971|REF_RGD_ID:8547801
12053427	MTPN	myotrophin	gene	DOID:10763	hypertension		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799
12053427	MTPN	myotrophin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
12053427	MTPN	myotrophin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603905	D	RGD:9068941	20200609	RGD			PMID:8508536|REF_RGD_ID:1581048
12053427	MTPN	myotrophin	gene	DOID:6000	congestive heart failure		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
12053427	MTPN	myotrophin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:10329199|REF_RGD_ID:1581047
12053427	MTPN	myotrophin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603905	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12053435	ACYP2	acylphosphatase 2	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1350765	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
12053435	ACYP2	acylphosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053435	ACYP2	acylphosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053435	ACYP2	acylphosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1350765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053435	ACYP2	acylphosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350765	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053455	AQP7	aquaporin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053455	AQP7	aquaporin 7	gene	DOID:0060180	colitis		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		associated with Infection;mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:10534	stomach cancer		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053455	AQP7	aquaporin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053455	AQP7	aquaporin 7	gene	DOID:11981	morbid obesity		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:17566090|REF_RGD_ID:1626289
12053455	AQP7	aquaporin 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736375	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053455	AQP7	aquaporin 7	gene	DOID:4362	cervical cancer		ISO	RGD:736375	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053455	AQP7	aquaporin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053455	AQP7	aquaporin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053455	AQP7	aquaporin 7	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:8778	Crohn's disease	severity	ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12053455	AQP7	aquaporin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053455	AQP7	aquaporin 7	gene	DOID:9256	colorectal cancer		ISO	RGD:736375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12053455	AQP7	aquaporin 7	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle:	PMID:29783856|REF_RGD_ID:13782361
12053455	AQP7	aquaporin 7	gene	DOID:9970	obesity		ISO	RGD:736375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16325777
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:1909	melanoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:4362	cervical cancer		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:10534	stomach cancer		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:1909	melanoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:1059	intellectual disability		ISO	RGD:733451	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: intellectual disability	PMID:25741868
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:4676	uremia	treatment	ISO	RGD:620365	D	RGD:9068941	20200609	RGD			PMID:16291838|REF_RGD_ID:10042968
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620365	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:22318685|REF_RGD_ID:10042977
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733451	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:20102719|REF_RGD_ID:10042969
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733451	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: HNRNPD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28300425|PMID:33057194|PMID:33874999
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:1324	lung cancer		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1601841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053538	CMSS1	cms1 ribosomal small subunit homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053566	LOC479185	zinc finger protein 25	gene	DOID:1324	lung cancer		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053566	LOC479185	zinc finger protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053566	LOC479185	zinc finger protein 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053585	SAR1A	secretion associated Ras related GTPase 1A	gene	DOID:1115	sarcoma		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053585	SAR1A	secretion associated Ras related GTPase 1A	gene	DOID:1324	lung cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053585	SAR1A	secretion associated Ras related GTPase 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053585	SAR1A	secretion associated Ras related GTPase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053585	SAR1A	secretion associated Ras related GTPase 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0050967	spinocerebellar ataxia 17		ISO	RGD:1606826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111974	immunodeficiency 59		ISO	RGD:1606826	D	RGD:7240710	20200826	OMIM			
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111974	immunodeficiency 59		ISO	RGD:1606826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:1115	sarcoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:1324	lung cancer		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:1909	melanoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:11836	clubfoot		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:1909	melanoma		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:557	kidney disease		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9004108	Fused Kidney		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9009056	BRAIN MALFORMATION RENAL SYNDROME		ISO	RGD:1605316	D	RGD:7240710	20241009	OMIM			
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9009056	BRAIN MALFORMATION RENAL SYNDROME		ISO	RGD:1605316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRAIN MALFORMATION RENAL SYNDROME	
12053693	VSTM2B	V-set and transmembrane domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626689	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053693	VSTM2B	V-set and transmembrane domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053693	VSTM2B	V-set and transmembrane domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053693	VSTM2B	V-set and transmembrane domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1626689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053693	VSTM2B	V-set and transmembrane domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053700	SYNPR	synaptoporin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050952	spastic ataxia		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:32579787
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:18313024|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:29749493|PMID:30015775|PMID:30097146|PMID:30555943|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:34234304|PMID:34256108|PMID:34445196|PMID:34816117|PMID:35069422|PMID:35198007|PMID:35872528|PMID:35947152|PMID:38703036|PMID:38735647|PMID:9536098
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: BOUCHER-NEUHAUSER SYNDROME | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism	PMID:24355708|PMID:25033069|PMID:25267340|PMID:25359264|PMID:25480986|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OLIVER-MCFARLANE SYNDROME | ClinVar Annotator: match by term: Trichomegaly retina pigmentary degeneration dwarfism | ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PMID:25033069|PMID:25359264|PMID:25480986|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:31780887|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111428	essential tremor 1		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:24355708
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1059	intellectual disability		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:11830	myopia		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1389	polyneuropathy		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22819951
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1909	melanoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1924	hypogonadism		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laurence-Moon syndrome	PMID:25033069|PMID:25359264|PMID:25741868|PMID:26467025|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:231	motor neuron disease		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313024|PMID:20603202
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:26995604|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:31048186|PMID:34445196
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:2710	sick building syndrome		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23418070
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:3275	thymoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532|PMID:32579787
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadism with anosmia	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:535	sleep disorder		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:543	dystonia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:5723	optic atrophy		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1605701	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:20188121
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:630	genetic disease		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25133958|PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25480986|PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:863	nervous system disease		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8211998
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:870	neuropathy		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9001722	Dysarthria		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9004866	Ataxia		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:28559085|PMID:31135245|PMID:31712030|PMID:32586184|PMID:33141049|PMID:35069422
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral precocious puberty	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605701	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25033069|PMID:25359264|PMID:25741868|PMID:27866050|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053764	WNT5B	Wnt family member 5B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12053764	WNT5B	Wnt family member 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1346792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053764	WNT5B	Wnt family member 5B	gene	DOID:127	leiomyoma		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15972578
12053764	WNT5B	Wnt family member 5B	gene	DOID:127	leiomyoma		ISO	RGD:1346792	D	RGD:9068941	20200609	RGD		Uterine leiomyoma;  mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs	PMID:15972578|REF_RGD_ID:2298808
12053764	WNT5B	Wnt family member 5B	gene	DOID:1324	lung cancer		ISO	RGD:1346792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053764	WNT5B	Wnt family member 5B	gene	DOID:3275	thymoma		ISO	RGD:1346792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12053764	WNT5B	Wnt family member 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1346792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053764	WNT5B	Wnt family member 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053764	WNT5B	Wnt family member 5B	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12053764	WNT5B	Wnt family member 5B	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1551592	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|REF_RGD_ID:2298863
12053764	WNT5B	Wnt family member 5B	gene	DOID:9005233	Experimental Mammary Neoplasms	no_association	ISO	RGD:1551592	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:9419423|REF_RGD_ID:2298848
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:7240710	20180130	OMIM			
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: REAR SYNDROME | ClinVar Annotator: match by term: Renal-ear-anal-radial syndrome | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME | ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1	PMID:10533063|PMID:10819639|PMID:11102974|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30311386|PMID:30655312|PMID:32656166|PMID:34906515|PMID:36362878|PMID:36549658|PMID:38296632|PMID:40658219|PMID:9536098|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1320515	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: VACTERL-H	PMID:24429398|PMID:25741868|PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:10488	imperforate anus		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12053775	SALL1	spalt like transcription factor 1	gene	DOID:11193	syndactyly		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:14766	renal agenesis		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
12053775	SALL1	spalt like transcription factor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:2810	middle lobe syndrome		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
12053775	SALL1	spalt like transcription factor 1	gene	DOID:4667	kyphosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12053775	SALL1	spalt like transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12915476|PMID:16088922|PMID:23069192|PMID:25741868|PMID:28492532|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
12053775	SALL1	spalt like transcription factor 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		embryonal subtype;protein:increased expression:liver, nucleus (human)	PMID:23822878|REF_RGD_ID:11556217
12053775	SALL1	spalt like transcription factor 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9000101	Rectovaginal Fistula		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rectovaginal fistula	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:10533063|PMID:12915476|PMID:14627694|PMID:16088922|PMID:19005989|PMID:23069192|PMID:25741868|PMID:28492532|PMID:30655312|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9001581	Constipation		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9004452	Townes-Brocks-Branchiootorenal-Like Syndrome		ISO	RGD:1320515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME	PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9004994	Embryo Loss		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20127799
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16088922|PMID:9425907
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1320515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:28492532
12053786	MYO5C	myosin VC	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053786	MYO5C	myosin VC	gene	DOID:10534	stomach cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053786	MYO5C	myosin VC	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053786	MYO5C	myosin VC	gene	DOID:1324	lung cancer		ISO	RGD:1320640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053786	MYO5C	myosin VC	gene	DOID:1909	melanoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053786	MYO5C	myosin VC	gene	DOID:303	substance-related disorder		ISO	RGD:1320640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12053786	MYO5C	myosin VC	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12053786	MYO5C	myosin VC	gene	DOID:4362	cervical cancer		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053786	MYO5C	myosin VC	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053786	MYO5C	myosin VC	gene	DOID:5041	esophageal cancer		ISO	RGD:1320640	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053786	MYO5C	myosin VC	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053786	MYO5C	myosin VC	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12053786	MYO5C	myosin VC	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053786	MYO5C	myosin VC	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053786	MYO5C	myosin VC	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053786	MYO5C	myosin VC	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080757	Fanconi renotubular syndrome 1		ISO	RGD:1349142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi renotubular syndrome 1	PMID:25741868
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080759	Fanconi renotubular syndrome 3		ISO	RGD:1349142	D	RGD:7240710	20190327	OMIM			
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080759	Fanconi renotubular syndrome 3		ISO	RGD:1349142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EHHADH-related condition | ClinVar Annotator: match by term: Fanconi renotubular syndrome 3	PMID:25741868|PMID:28492532|PMID:35738466
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1349142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:1062	Fanconi syndrome		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1349142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:13580	cholestasis		ISO	RGD:1349142	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:303	substance-related disorder		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349142	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:784	chronic kidney disease		ISO	RGD:1349142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053847	IFT140	intraflagellar transport 140	gene	DOID:0050577	cranioectodermal dysplasia		ISO	RGD:1605413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia | ClinVar Annotator: match by term: Sensenbrenner syndrome	PMID:29688594
12053847	IFT140	intraflagellar transport 140	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:0061111	retinitis pigmentosa 80		ISO	RGD:1605413	D	RGD:7240710	20260805	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:0061111	retinitis pigmentosa 80		ISO	RGD:1605413	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 80 | ClinVar Annotator: match by term: Retinitis pigmentosa 80	PMID:16199547|PMID:17576681|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28492532|PMID:29688594|PMID:31130284|PMID:32860008|PMID:34890546|PMID:39136524|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:0080608	anterior segment dysgenesis 3		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis 3	PMID:25741868
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1553664	D	RGD:9068941	20250724	MouseDO		OMIM:208500	
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1605413	D	RGD:7240710	20260805	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Saldino-Mainzer syndrome	PMID:16199547|PMID:17576681|PMID:19561590|PMID:20354512|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:27874174|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28844315|PMID:28991257|PMID:29688594|PMID:29706353|PMID:29758562|PMID:30902645|PMID:31130284|PMID:31397098|PMID:32037395|PMID:32860008|PMID:32901917|PMID:33532864|PMID:34217267|PMID:34890546|PMID:36227438|PMID:38531366|PMID:39136524|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110122	Axenfeld-Rieger syndrome type 3		ISO	RGD:1605413	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3	PMID:25741868
12053847	IFT140	intraflagellar transport 140	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:28492532|PMID:28844315|PMID:29688594|PMID:29706353
12053847	IFT140	intraflagellar transport 140	gene	DOID:10534	stomach cancer		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053847	IFT140	intraflagellar transport 140	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:22503633|PMID:25741868|PMID:26968735|PMID:29688594|PMID:34890546|PMID:37844724|PMID:38404363|PMID:39136524
12053847	IFT140	intraflagellar transport 140	gene	DOID:10908	hydrocephalus		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
12053847	IFT140	intraflagellar transport 140	gene	DOID:1115	sarcoma		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053847	IFT140	intraflagellar transport 140	gene	DOID:12712	nephronophthisis		ISO	RGD:1605413	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:28492532|PMID:28844315|PMID:29688594|PMID:29706353
12053847	IFT140	intraflagellar transport 140	gene	DOID:1283	enterocele		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
12053847	IFT140	intraflagellar transport 140	gene	DOID:1324	lung cancer		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053847	IFT140	intraflagellar transport 140	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
12053847	IFT140	intraflagellar transport 140	gene	DOID:2975	cystic kidney disease		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cystic kidney disease | ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Renal cyst	PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28288023|PMID:28492532|PMID:31213501|PMID:31736247|PMID:34890546|PMID:35140360|PMID:36573973|PMID:37844724|PMID:38404363|PMID:39136524|PMID:39732359
12053847	IFT140	intraflagellar transport 140	gene	DOID:3275	thymoma		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:4362	cervical cancer		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053847	IFT140	intraflagellar transport 140	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12053847	IFT140	intraflagellar transport 140	gene	DOID:5041	esophageal cancer		ISO	RGD:1605413	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12053847	IFT140	intraflagellar transport 140	gene	DOID:5679	retinal disease		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28492532|PMID:28559085|PMID:34429528|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:5723	optic atrophy		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053847	IFT140	intraflagellar transport 140	gene	DOID:630	genetic disease		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31213501|PMID:34890546|PMID:36573973|PMID:39136524
12053847	IFT140	intraflagellar transport 140	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:28492532|PMID:3196484|PMID:32037395|PMID:32483926|PMID:33946315|PMID:34890546|PMID:36833371
12053847	IFT140	intraflagellar transport 140	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:22282595|PMID:22503633|PMID:25741868|PMID:26968735|PMID:34890546|PMID:39136524
12053847	IFT140	intraflagellar transport 140	gene	DOID:9003286	Diplopia		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	
12053847	IFT140	intraflagellar transport 140	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053847	IFT140	intraflagellar transport 140	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12053847	IFT140	intraflagellar transport 140	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1605413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009330	polycystic kidney disease 9		ISO	RGD:1605413	D	RGD:7240710	20260805	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009330	polycystic kidney disease 9		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 9, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Polycystic kidney disease 9, susceptibility to	PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28492532|PMID:31213501|PMID:33452237|PMID:34890546|PMID:37844724|PMID:38404363|PMID:39136524
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009335	Cranioectodermal dysplasia 5		ISO	RGD:1605413	D	RGD:7240710	20260805	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009335	Cranioectodermal dysplasia 5		ISO	RGD:1605413	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cranioectodermal dysplasia 5	PMID:25741868|PMID:29688594
12053869	SMAD7	SMAD family member 7	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12053869	SMAD7	SMAD family member 7	gene	DOID:10952	nephritis		ISO	RGD:69314	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:11170839|REF_RGD_ID:2315074
12053869	SMAD7	SMAD family member 7	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:15661223|REF_RGD_ID:2299963
12053869	SMAD7	SMAD family member 7	gene	DOID:1612	breast cancer		ISO	RGD:1344957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12053869	SMAD7	SMAD family member 7	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (human)	PMID:10498890|REF_RGD_ID:14394510
12053869	SMAD7	SMAD family member 7	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23590892
12053869	SMAD7	SMAD family member 7	gene	DOID:4074	pancreatic adenocarcinoma	severity	ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		human cell and construct in a mouse model	PMID:10498890|REF_RGD_ID:14394510
12053869	SMAD7	SMAD family member 7	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma; mRNA:increased expression:liver (human)	PMID:25602745|REF_RGD_ID:14401589
12053869	SMAD7	SMAD family member 7	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69314	D	RGD:9068941	20200609	RGD			PMID:17347486|REF_RGD_ID:1643222
12053869	SMAD7	SMAD family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:25602745|REF_RGD_ID:14401589
12053869	SMAD7	SMAD family member 7	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:69314	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypoglossal nucleus	PMID:17166487|REF_RGD_ID:1643227
12053869	SMAD7	SMAD family member 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds	PMID:11078792|REF_RGD_ID:2300008
12053869	SMAD7	SMAD family member 7	gene	DOID:9004018	Paraquat Lung		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23590892
12053869	SMAD7	SMAD family member 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344957	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12053869	SMAD7	SMAD family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053869	SMAD7	SMAD family member 7	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17934461
12053869	SMAD7	SMAD family member 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1344957	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: SMAD7-related condition	PMID:25741868|PMID:28492532
12053869	SMAD7	SMAD family member 7	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1344957	D	RGD:7240710	20200226	OMIM			
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:3275	thymoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:1909	melanoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:0060604	ankyloglossia		ISO	RGD:1550798	D	RGD:9068941	20220825	MouseDO		OMIM:106280	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:1115	sarcoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:1324	lung cancer		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:1909	melanoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605118	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1605118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25280562
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:1324	lung cancer		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:850	lung disease		ISO	RGD:1347298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:10534	stomach cancer		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:1115	sarcoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:1909	melanoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:4362	cervical cancer		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:6039	uveal melanoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735928	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12053989	ZNF404	zinc finger protein 404	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12053989	ZNF404	zinc finger protein 404	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12053989	ZNF404	zinc finger protein 404	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346088	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054028	FANCI	FA complementation group I	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1605380	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12054028	FANCI	FA complementation group I	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1605380	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
12054028	FANCI	FA complementation group I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054028	FANCI	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:7240710	20180130	OMIM			
12054028	FANCI	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCI-related disorder | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP I | ClinVar Annotator: match by term: Fanconi anemia complementation group I	PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:19561358|PMID:20971953|PMID:21324748|PMID:22720145|PMID:23093618|PMID:23613520|PMID:24623813|PMID:24989076|PMID:25741868|PMID:26296701|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:30792206|PMID:32054657|PMID:32546565|PMID:32868804|PMID:36513378|PMID:36915884|PMID:38483614|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:0111991	immunodeficiency 62		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 62	PMID:25741868
12054028	FANCI	FA complementation group I	gene	DOID:10534	stomach cancer		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17452773|PMID:17460694|PMID:25741868|PMID:28492532|PMID:28875981
12054028	FANCI	FA complementation group I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054028	FANCI	FA complementation group I	gene	DOID:1115	sarcoma		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18546365|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23430898|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:30792206|PMID:31300551|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:16199547|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20971953|PMID:21324748|PMID:22406018|PMID:23613520|PMID:25640679|PMID:25741868|PMID:25877891|PMID:26094658|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31822006|PMID:32054657|PMID:32235514|PMID:32546565|PMID:34308104|PMID:34585473|PMID:34601666|PMID:35099770|PMID:36307859|PMID:37216690|PMID:37277882|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12054028	FANCI	FA complementation group I	gene	DOID:1612	breast cancer		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast Cancer	PMID:25741868|PMID:28492532|PMID:33558524
12054028	FANCI	FA complementation group I	gene	DOID:1826	epilepsy		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:1909	melanoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054028	FANCI	FA complementation group I	gene	DOID:3070	high grade glioma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12054028	FANCI	FA complementation group I	gene	DOID:3275	thymoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054028	FANCI	FA complementation group I	gene	DOID:4362	cervical cancer		ISO	RGD:1605380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054028	FANCI	FA complementation group I	gene	DOID:5041	esophageal cancer		ISO	RGD:1605380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054028	FANCI	FA complementation group I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054028	FANCI	FA complementation group I	gene	DOID:630	genetic disease		ISO	RGD:1605380	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054028	FANCI	FA complementation group I	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: mitochondrial disorder	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12054028	FANCI	FA complementation group I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
12054028	FANCI	FA complementation group I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054028	FANCI	FA complementation group I	gene	DOID:9256	colorectal cancer		ISO	RGD:1605380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12054076	CD1D	CD1d molecule	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:27069116|REF_RGD_ID:11534789
12054076	CD1D	CD1d molecule	gene	DOID:10113	trypanosomiasis	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:15731095|REF_RGD_ID:127345115
12054076	CD1D	CD1d molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1353762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054076	CD1D	CD1d molecule	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		mRNA:splice variant:pyloric antrum (human))	PMID:26119195|REF_RGD_ID:11074500
12054076	CD1D	CD1d molecule	gene	DOID:12206	dengue hemorrhagic fever	disease_progression	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		protein:increased expression:cd14-positive monocyte (human)	PMID:24945350|REF_RGD_ID:127345113
12054076	CD1D	CD1d molecule	gene	DOID:12365	malaria	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:12938235|REF_RGD_ID:127345117
12054076	CD1D	CD1d molecule	gene	DOID:12365	malaria	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:24703850|REF_RGD_ID:127345121
12054076	CD1D	CD1d molecule	gene	DOID:1273	respiratory syncytial virus infectious disease	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:32463330|REF_RGD_ID:127345107
12054076	CD1D	CD1d molecule	gene	DOID:1394	urinary schistosomiasis		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		protein:increased expression:B cell (human)	PMID:22347409|REF_RGD_ID:127345101
12054076	CD1D	CD1d molecule	gene	DOID:1909	melanoma		ISO	RGD:1353762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054076	CD1D	CD1d molecule	gene	DOID:2237	hepatitis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:24058536|REF_RGD_ID:127345120
12054076	CD1D	CD1d molecule	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with fasciolopsiasis	PMID:20304473|REF_RGD_ID:4140417
12054076	CD1D	CD1d molecule	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)	PMID:30972222|REF_RGD_ID:127345096
12054076	CD1D	CD1d molecule	gene	DOID:3388	periodontal disease	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:23586756|REF_RGD_ID:127345118
12054076	CD1D	CD1d molecule	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:32153566|REF_RGD_ID:127345122
12054076	CD1D	CD1d molecule	gene	DOID:820	myocarditis	susceptibility	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:20121405|REF_RGD_ID:127345095
12054076	CD1D	CD1d molecule	gene	DOID:820	myocarditis	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:21050191|REF_RGD_ID:11340571
12054076	CD1D	CD1d molecule	gene	DOID:8566	herpes simplex	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:18614643|REF_RGD_ID:127345112
12054076	CD1D	CD1d molecule	gene	DOID:8857	lupus erythematosus	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:14561706|REF_RGD_ID:127345108
12054076	CD1D	CD1d molecule	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		protein:increased expression:spleen, mononuclear cell (mouse)	PMID:16817758|REF_RGD_ID:127345109
12054076	CD1D	CD1d molecule	gene	DOID:9000469	Viral Myocarditis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:12626572|REF_RGD_ID:127345102
12054076	CD1D	CD1d molecule	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:33283278|REF_RGD_ID:127345110
12054076	CD1D	CD1d molecule	gene	DOID:9002834	Herpesviridae Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:19414797|REF_RGD_ID:127345094
12054076	CD1D	CD1d molecule	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:16809320|REF_RGD_ID:127345105
12054076	CD1D	CD1d molecule	gene	DOID:9003470	Picornaviridae Infections	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:19949077|REF_RGD_ID:127345106
12054076	CD1D	CD1d molecule	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:14572776|REF_RGD_ID:127345103
12054076	CD1D	CD1d molecule	gene	DOID:9005295	Viral Eye Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Herpesviridae Infections	PMID:30185591|REF_RGD_ID:127345098
12054076	CD1D	CD1d molecule	gene	DOID:9005757	Metapneumovirus infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		protein:decreased expression:alveolar macrophage, monocyte (mouse)	PMID:32463330|REF_RGD_ID:127345107
12054076	CD1D	CD1d molecule	gene	DOID:9006262	Cytomegalovirus Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:17379092|REF_RGD_ID:127345104
12054076	CD1D	CD1d molecule	gene	DOID:9006741	Acute Hepatitis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:11970881|REF_RGD_ID:127345111
12054076	CD1D	CD1d molecule	gene	DOID:9008090	Chlamydiaceae Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:23999314|REF_RGD_ID:127345116
12054076	CD1D	CD1d molecule	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)	PMID:26119195|REF_RGD_ID:11074500
12054076	CD1D	CD1d molecule	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)	PMID:29643189|REF_RGD_ID:127345114
12054076	CD1D	CD1d molecule	gene	DOID:9008452	Candidemia	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with endotoxemia	PMID:32154791|REF_RGD_ID:127345119
12054076	CD1D	CD1d molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353762	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054085	MIR365-1	microRNA mir-365-1	gene	DOID:2043	hepatitis B		ISO	RGD:2290203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12054088	MIR106B	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:29554950|REF_RGD_ID:15042854
12054088	MIR106B	microRNA mir-106b	gene	DOID:12849	autistic disorder		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20374639
12054088	MIR106B	microRNA mir-106b	gene	DOID:3347	osteosarcoma		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22510560
12054088	MIR106B	microRNA mir-106b	gene	DOID:6000	congestive heart failure		ISO	RGD:1346496	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346496	D	RGD:9068941	20250612	RGD		associated with Chronic Hepatitis B;miRNA:increased expression:liver	PMID:27298561|REF_RGD_ID:15042853
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22510560
12054088	MIR106B	microRNA mir-106b	gene	DOID:9256	colorectal cancer		ISO	RGD:1346496	D	RGD:9068941	20220805	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12054088	Mir106b	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (rat)	PMID:29554950|REF_RGD_ID:15042854
12054088	Mir106b	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (rat)	PMID:29554950|REF_RGD_ID:15042854
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:1115	sarcoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:11840	coronary artery vasospasm		ISO	RGD:1313314	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19911011
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:1909	melanoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:3275	thymoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313314	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1313314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:1115	sarcoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:2723	dermatitis		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1549996	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9001371	Eosinophilia		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:7240710	20240515	OMIM			
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317771	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054224	HYAL4	hyaluronidase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054224	HYAL4	hyaluronidase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17363697|REF_RGD_ID:11040927
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood, mononuclear cell	PMID:16741676|REF_RGD_ID:6893529
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0060180	colitis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19117124|REF_RGD_ID:6893503
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:blood, leukocyte	PMID:21195211|REF_RGD_ID:6893544
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, plasma membrane	PMID:12479587|REF_RGD_ID:11040908
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:24280415|REF_RGD_ID:11041117
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:24280415|REF_RGD_ID:11041117
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21216282|REF_RGD_ID:6893543
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111046	platelet-type bleeding disorder 10		ISO	RGD:619554	D	RGD:7240710	20260812	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111046	platelet-type bleeding disorder 10		ISO	RGD:619554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CD36 DEFICIENCY | ClinVar Annotator: match by term: PLATELET GLYCOPROTEIN IV DEFICIENCY | ClinVar Annotator: match by term: Platelet glycoprotein IV deficiency | ClinVar Annotator: match by term: Platelet-type bleeding disorder 10 | ClinVar Annotator: match by term: platelet-type bleeding disorder 10	PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:26528880|PMID:28492532|PMID:28960434|PMID:29083407|PMID:30905589|PMID:32129498|PMID:33077954|PMID:33116287|PMID:33942430|PMID:40263194|PMID:7533783|PMID:7686693|PMID:8696942
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:619554	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10223	dermatomyositis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:17572512|REF_RGD_ID:6893508
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10325	silicosis	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:24053919|REF_RGD_ID:11041147
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10534	stomach cancer		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10603	glucose intolerance		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14640889
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10608	celiac disease		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10652	Alzheimer's disease		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16563568|REF_RGD_ID:6893531
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10763	hypertension		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:18587397|REF_RGD_ID:2300254
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10763	hypertension		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18587397
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:7529543|REF_RGD_ID:11041104
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10923	sickle cell anemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:erythrocyte	PMID:18322255|REF_RGD_ID:6893506
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20015873|REF_RGD_ID:11041114
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1115	sarcoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11382	corneal neovascularization		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17003426|REF_RGD_ID:6893528
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:decreased expression:cardiac muscle cell	PMID:25702158|REF_RGD_ID:11041149
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19189074|REF_RGD_ID:2307222
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21412229|REF_RGD_ID:6893495
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12365	malaria		ISO	RGD:619554	D	RGD:7240710	20260812	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12365	malaria		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to | ClinVar Annotator: match by term: Susceptibility to malaria	PMID:25741868|PMID:28960434|PMID:33116287
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16197457|REF_RGD_ID:6893534
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10981864
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1324	lung cancer		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:13533	osteopetrosis		ISO	RGD:619554	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:14069	cerebral malaria		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17367535|REF_RGD_ID:6893527
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1588	thrombocytopenia		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1909	melanoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1936	atherosclerosis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19264766|PMID:20037584|REF_RGD_ID:6893502|REF_RGD_ID:6893559
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:26003171|REF_RGD_ID:11041151
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2218	blood platelet disease		ISO	RGD:619554	D	RGD:9068941	20260521	RGD		CD36 deficiency, OMIM:608404, DNA:point mutation, frameshift mutation	PMID:11950861|REF_RGD_ID:1600629
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2224	essential thrombocythemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2316	brain ischemia		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20360550|REF_RGD_ID:6893498
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2349	arteriosclerosis	severity	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18723424|REF_RGD_ID:2307207
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:20855355|REF_RGD_ID:6893496
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2527	nephrosis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:19147991|REF_RGD_ID:2307223
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:289	endometriosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:macrophage	PMID:19606481|REF_RGD_ID:6893501
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:619554	D	RGD:9068941	20210226	RGD		DNA:SNPs: :rs1194182, rs10499859(human)	PMID:28693442|REF_RGD_ID:41412192
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3275	thymoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3326	purpura		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Purpura	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3393	coronary artery disease		ISO	RGD:619554	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Premature coronary artery atherosclerosis	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3429	inclusion body myositis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:17572512|REF_RGD_ID:6893508
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:25216018|REF_RGD_ID:11041113
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3526	cerebral infarction		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Hyperlipidemias	PMID:22718544|REF_RGD_ID:6893487
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		associated with Silicosis	PMID:19439069|REF_RGD_ID:2307220
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3770	pulmonary fibrosis	severity	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Silicosis	PMID:20056742|REF_RGD_ID:6893557
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4448	macular degeneration		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:18288886|REF_RGD_ID:2307226
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4448	macular degeneration		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:18288886|REF_RGD_ID:2307226
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5082	liver cirrhosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		associated with Hypertension, Portal	PMID:22648712|REF_RGD_ID:6893541
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5844	myocardial infarction	severity	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:22128087|REF_RGD_ID:6893560
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15690042
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:619554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:16493488|PMID:23966019|PMID:25330908|PMID:25741868|PMID:29083407|PMID:30905589|PMID:32129498|PMID:33077954
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:15334463|REF_RGD_ID:1625347
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:619554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:16493488|PMID:23966019|PMID:25330908|PMID:25741868|PMID:29083407|PMID:30905589|PMID:32129498|PMID:33077954
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8997	polycythemia vera		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000064	Cardiac Arrhythmias	severity	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:22128087|REF_RGD_ID:6893560
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:619555	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000528	Coronary Disease		ISO	RGD:619554	D	RGD:7240710	20260812	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000528	Coronary Disease		ISO	RGD:619554	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Coronary heart disease, susceptibility to, 7	PMID:25741868|PMID:28960434|PMID:33116287
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage	PMID:21803601|REF_RGD_ID:6893492
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:10946357|REF_RGD_ID:11040931
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20950462|REF_RGD_ID:6893545
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2301	D	RGD:9068941	20250918	RGD		protein:increased expression:erythrocyte	PMID:24317495|REF_RGD_ID:11041148
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:619554	D	RGD:9068941	20250918	RGD		protein:increased expression:erythrocyte	PMID:24317495|REF_RGD_ID:11041148
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:increased expression:renal proximal tubule, endothelial cell	PMID:15737001|REF_RGD_ID:2307215
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:19342682|REF_RGD_ID:6893565
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002331	Knee Osteoarthritis	disease_progression	ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21765106|REF_RGD_ID:6893494
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002554	Tachycardia		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:26579575|REF_RGD_ID:11041119
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19064796|REF_RGD_ID:6893504
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002720	Splenomegaly		ISO	RGD:619554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:16493488|PMID:23966019|PMID:25330908|PMID:25741868|PMID:29083407|PMID:30905589|PMID:32129498|PMID:33077954
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:26036798|REF_RGD_ID:11040928
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004484	Sepsis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:22327076|REF_RGD_ID:6893490
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Malaria	PMID:18483551|REF_RGD_ID:6893505
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004657	Weight Gain		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005176	Retroperitoneal Fibrosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16014033|REF_RGD_ID:6893538
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005372	Inflammation		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Fatty Liver	PMID:22470565|REF_RGD_ID:6893488
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple organs	PMID:16838191|REF_RGD_ID:2307214
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:23691525|REF_RGD_ID:11041145
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006013	Hematoma		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:24808360|REF_RGD_ID:11040930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006013	Hematoma	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:24808360|REF_RGD_ID:11040930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:9916795|REF_RGD_ID:619666
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18305138|REF_RGD_ID:2307208
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:11175782|PMID:25477422|REF_RGD_ID:11041132|REF_RGD_ID:68930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14640889
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:12923231|REF_RGD_ID:11040926
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:15231693|REF_RGD_ID:2307217
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15690042
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9009028	Ecchymosis		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ecchymosis	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:619554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9182	pemphigus		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21255096|REF_RGD_ID:5490304
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9351	diabetes mellitus		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage	PMID:17551591|REF_RGD_ID:2307209
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619554	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9352	type 2 diabetes mellitus	severity	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter, rs1527479 (human)	PMID:16911630|REF_RGD_ID:2307213
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9452	steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19788606|REF_RGD_ID:6893500
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:7544802|REF_RGD_ID:2307219
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:25477422|REF_RGD_ID:11041132
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, gastrocnemius	PMID:20435456|REF_RGD_ID:6893497
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle, T-tubule	PMID:23743348|REF_RGD_ID:11041118
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:22615812|REF_RGD_ID:6893542
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:0061071	immunodeficiency 101		ISO	RGD:1315038	D	RGD:7240710	20220629	OMIM			
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:0061071	immunodeficiency 101		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific)	PMID:25741868
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:4362	cervical cancer		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0050661	vitelliform macular dystrophy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22893068|REF_RGD_ID:7394745
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0060046	aphasia		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0060785	typical adult-onset autosomal dominant demyelinating leukodystrophy		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult onset leukodystrophy	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0060863	patterned macular dystrophy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22893068|REF_RGD_ID:7394745
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0061228	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2		ISO	RGD:732659	D	RGD:7240710	20180130	OMIM			
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0061228	autosomal recessive cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2		ISO	RGD:732659	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEREBRAL ARTERIOPATHY, AUTOSOMAL RECESSIVE, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease	PMID:19387015|PMID:23963851|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:29895533|PMID:31316458|PMID:32719647|PMID:36035189|PMID:36047879|PMID:36253578|PMID:36261288|PMID:36380532|PMID:37348440
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:732659	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Macular degeneration, age-related, 7	PMID:16199547|PMID:19387015|PMID:25741868|PMID:28492532|PMID:29895533|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	severity	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)	PMID:19796758|REF_RGD_ID:7394719
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:multiple (human)	PMID:18207215|REF_RGD_ID:7394722
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)	PMID:19933195|REF_RGD_ID:7394713
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-497C>T (rs2672598) (human)	PMID:18436811|REF_RGD_ID:7394721
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0111036	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2		ISO	RGD:732659	D	RGD:7240710	20190315	OMIM			
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0111036	autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 2		ISO	RGD:732659	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2 | ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease	PMID:11889251|PMID:19387015|PMID:23963851|PMID:24500651|PMID:25712943|PMID:25741868|PMID:26063658|PMID:27164673|PMID:27353043|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32101834|PMID:32581362|PMID:32719647|PMID:33268848|PMID:34220097|PMID:34510819|PMID:34951056|PMID:36035189|PMID:36047879|PMID:36253578|PMID:36261288|PMID:36380532|PMID:37016629|PMID:37986915|PMID:39196222
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:stomach (human)	PMID:25761858|REF_RGD_ID:11058317
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:732659	D	RGD:9068941	20220609	RGD			PMID:21447133|REF_RGD_ID:152977763
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10763	hypertension		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human)	PMID:21682878|REF_RGD_ID:7394697
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10871	age related macular degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-1894G>A (rs3793917) (human)	PMID:22618592|REF_RGD_ID:7394695
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)	PMID:18164066|REF_RGD_ID:7394724
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22800422|REF_RGD_ID:7387322
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1107	esophageal carcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA,protein:decreased expression:esophagus (human)	PMID:22935172|REF_RGD_ID:152985525
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:13945	CADASIL		ISO	RGD:732659	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1790	malignant mesothelioma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220527	RGD		protein:increased expression:mesothelium (human)	PMID:18681782|REF_RGD_ID:152975625
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:732659	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:2152	ovary epithelial cancer	treatment	ISO	RGD:732659	D	RGD:9068941	20220603	RGD			PMID:16767218|REF_RGD_ID:152977756
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		DNA:SNP:cds: (rs1049331) (human)	PMID:32218415|REF_RGD_ID:152985527
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3748	esophagus squamous cell carcinoma	ameliorates	ISO	RGD:732659	D	RGD:9068941	20220603	RGD		human gene and cells in mouse model	PMID:23079781|REF_RGD_ID:152975633
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220603	RGD		mRNA,protein:decreased expression:epithelium of esophagus (human)	PMID:23079781|REF_RGD_ID:152975633
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220527	RGD		protein:decreased expression:lung (human)	PMID:32878625|REF_RGD_ID:152975629
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220526	RGD		human cells in mouse model	PMID:24356998|REF_RGD_ID:152975621
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:4448	macular degeneration		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:18164066|PMID:18316707|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:34626176
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:630	genetic disease		ISO	RGD:732659	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA:decreased expression:liver (human)	PMID:26403966|REF_RGD_ID:152985529
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:liver (human)	PMID:20943460|REF_RGD_ID:152985524
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:848	arthritis		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:colonic epithelium,colonic mucosa (human)	PMID:28586045|REF_RGD_ID:152985530
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:8725	vascular dementia		ISO	RGD:732659	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:24500651|PMID:28492532|PMID:31316458|PMID:33268848|PMID:39196222
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:18682806|REF_RGD_ID:7394694
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21844367|REF_RGD_ID:7394749
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization	no_association	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:19680273|REF_RGD_ID:7394720
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001427	Geographic Atrophy		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:17426452|REF_RGD_ID:7394693
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001722	Dysarthria		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic dysarthria	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732659	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive decline | ClinVar Annotator: match by term: Cognitive impairment	PMID:19387015|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:27164673|PMID:28492532|PMID:29895533|PMID:30981321|PMID:32101834|PMID:32581362
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:732659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:30981321
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21844367|REF_RGD_ID:7394749
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:23326481|REF_RGD_ID:7394751
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:colonic epithelium,colonic mucosa (human)	PMID:28586045|REF_RGD_ID:152985530
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA, protein:increased expression,decreased expression:colorectal mucosa (human)	PMID:32486357|REF_RGD_ID:152977762
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:732659	D	RGD:9068941	20220527	RGD		associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
12054309	HFM1	helicase for meiosis 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054309	HFM1	helicase for meiosis 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054309	HFM1	helicase for meiosis 1	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1606438	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 4	
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:7240710	20180130	OMIM			
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 9 | ClinVar Annotator: match by term: Premature ovarian failure 9 | ClinVar Annotator: match by term: premature ovarian failure 9	PMID:25741868|PMID:35526155
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1606438	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12054309	HFM1	helicase for meiosis 1	gene	DOID:14227	azoospermia		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
12054309	HFM1	helicase for meiosis 1	gene	DOID:1909	melanoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054309	HFM1	helicase for meiosis 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054309	HFM1	helicase for meiosis 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054309	HFM1	helicase for meiosis 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12054309	HFM1	helicase for meiosis 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054309	HFM1	helicase for meiosis 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12054309	HFM1	helicase for meiosis 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054309	HFM1	helicase for meiosis 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601886	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601886	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1601886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:7240710	20180130	OMIM			
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIi	PMID:16199547|PMID:17576681|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31180159|PMID:32174980|PMID:33187827|PMID:33277529|PMID:9536098
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:1115	sarcoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:1909	melanoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:630	genetic disease		ISO	RGD:1319696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1319696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12054420	LTF	lactotransferrin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054420	LTF	lactotransferrin	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:9791051|REF_RGD_ID:7243943
12054420	LTF	lactotransferrin	gene	DOID:10534	stomach cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054420	LTF	lactotransferrin	gene	DOID:10763	hypertension		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
12054420	LTF	lactotransferrin	gene	DOID:1115	sarcoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054420	LTF	lactotransferrin	gene	DOID:11476	osteoporosis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16648989|PMID:16936800
12054420	LTF	lactotransferrin	gene	DOID:1324	lung cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054420	LTF	lactotransferrin	gene	DOID:13250	diarrhea		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:13689	prostate calculus		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:19202053|REF_RGD_ID:7243107
12054420	LTF	lactotransferrin	gene	DOID:14262	oral candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:1508	candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:17922408|REF_RGD_ID:7243948
12054420	LTF	lactotransferrin	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054420	LTF	lactotransferrin	gene	DOID:289	endometriosis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12054420	LTF	lactotransferrin	gene	DOID:381	arthropathy		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:21532506|REF_RGD_ID:7243860
12054420	LTF	lactotransferrin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23201854|REF_RGD_ID:7243106
12054420	LTF	lactotransferrin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12054420	LTF	lactotransferrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054420	LTF	lactotransferrin	gene	DOID:65	connective tissue disease		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:8296641|REF_RGD_ID:7243945
12054420	LTF	lactotransferrin	gene	DOID:8577	ulcerative colitis		ISO	RGD:1313477	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16640825|PMID:35999755
12054420	LTF	lactotransferrin	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9000310	Lung Injury		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:16905637|REF_RGD_ID:7243109
12054420	LTF	lactotransferrin	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9001981	Weight Loss		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
12054420	LTF	lactotransferrin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
12054420	LTF	lactotransferrin	gene	DOID:9003507	Premature Birth		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23201854|REF_RGD_ID:7243106
12054420	LTF	lactotransferrin	gene	DOID:9004484	Sepsis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23425819|REF_RGD_ID:7243861
12054420	LTF	lactotransferrin	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9005372	Inflammation		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12054420	LTF	lactotransferrin	gene	DOID:9006024	Hypotension		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563657
12054420	LTF	lactotransferrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054420	LTF	lactotransferrin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
12054420	LTF	lactotransferrin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1313477	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
12054420	LTF	lactotransferrin	gene	DOID:9008821	Otitis Media with Effusion	treatment	ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:21079169|REF_RGD_ID:11554025
12054420	LTF	lactotransferrin	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:10030017|REF_RGD_ID:7243953
12054420	LTF	lactotransferrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054420	LTF	lactotransferrin	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15651117
12054420	LTF	lactotransferrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054441	PEX11G	peroxisomal biogenesis factor 11 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054441	PEX11G	peroxisomal biogenesis factor 11 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1316043	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054441	PEX11G	peroxisomal biogenesis factor 11 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054462	INTS8	integrator complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:10283	prostate cancer		ISO	RGD:1604344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12054462	INTS8	integrator complex subunit 8	gene	DOID:10283	prostate cancer		ISO	RGD:1604344	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12054462	INTS8	integrator complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054462	INTS8	integrator complex subunit 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054462	INTS8	integrator complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054462	INTS8	integrator complex subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:2843	long QT syndrome		ISO	RGD:1604344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12054462	INTS8	integrator complex subunit 8	gene	DOID:3275	thymoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054462	INTS8	integrator complex subunit 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054462	INTS8	integrator complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12054462	INTS8	integrator complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054462	INTS8	integrator complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054462	INTS8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:7240710	20191016	OMIM			
12054462	INTS8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	PMID:25741868|PMID:28492532
12054462	INTS8	integrator complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:10534	stomach cancer		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:5041	esophageal cancer		ISO	RGD:1348143	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868|PMID:37133451
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9005621	Combined Oxidative Phosphorylation Deficiency 59		ISO	RGD:1348143	D	RGD:7240710	20231213	OMIM			
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9005621	Combined Oxidative Phosphorylation Deficiency 59		ISO	RGD:1348143	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59	PMID:25741868|PMID:37133451
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9256	colorectal cancer		ISO	RGD:1348143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314674	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314674	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:9002644	Premature Aging		ISO	RGD:1314674	D	RGD:9068941	20200609	RGD			PMID:21612665|REF_RGD_ID:10395359
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1604616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319694	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1319694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1319694	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054544	NEK8	NIMA related kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054544	NEK8	NIMA related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:7240710	20240925	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:0051081	polycystic kidney disease 8		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 8 | ClinVar Annotator: match by term: Polycystic kidney disease 8	PMID:25741868|PMID:26967905|PMID:28492532|PMID:30029678
12054544	NEK8	NIMA related kinase 8	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: polycystic kidney disease	PMID:25741868|PMID:26967905|PMID:28492532|PMID:32574212|PMID:36215968|PMID:37598857|PMID:40677363
12054544	NEK8	NIMA related kinase 8	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1552572	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
12054544	NEK8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 9	PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26967905|PMID:28387813|PMID:28492532|PMID:32773771|PMID:35368817|PMID:37372416|PMID:37598857|PMID:9536098
12054544	NEK8	NIMA related kinase 8	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054544	NEK8	NIMA related kinase 8	gene	DOID:1074	kidney failure		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:10787	premature menopause		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature menopause	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054544	NEK8	NIMA related kinase 8	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315774	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:23418306|PMID:25741868|PMID:26967905|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054544	NEK8	NIMA related kinase 8	gene	DOID:557	kidney disease		ISO	RGD:1315774	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18199800
12054544	NEK8	NIMA related kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054544	NEK8	NIMA related kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26967905|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:784	chronic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL-HEPATIC-PANCREATIC DYSPLASIA 2 | ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2	PMID:17576681|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532|PMID:9536098
12054544	NEK8	NIMA related kinase 8	gene	DOID:9001542	Albuminuria		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albuminuria	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054544	NEK8	NIMA related kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:10534	stomach cancer		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:1115	sarcoma		ISO	RGD:1343446	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:1324	lung cancer		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:13501	Moebius syndrome		ISO	RGD:1343446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:3070	high grade glioma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:3275	thymoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1343446	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:1909	melanoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:10283	prostate cancer		ISO	RGD:1606952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:10283	prostate cancer		ISO	RGD:1606952	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:10534	stomach cancer		ISO	RGD:1606952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:1115	sarcoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:1324	lung cancer		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:3275	thymoma		ISO	RGD:1606952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1115	sarcoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:1324	lung cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:4362	cervical cancer		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054676	SUGT1	SGT1 assembly cochaperone of MIS12 kinetochore complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:1324	lung cancer		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:3275	thymoma		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:1909	melanoma		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342805	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1589818	D	RGD:9068941	20211029	RGD			PMID:31341137|REF_RGD_ID:150520163
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1613682	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:1115	sarcoma		ISO	RGD:1344482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054742	TAL2	TAL bHLH transcription factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1351744	D	RGD:9068941	20200609	RGD			PMID:1763056|REF_RGD_ID:1599285
12054742	TAL2	TAL bHLH transcription factor 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1351744	D	RGD:7240710	20230505	OMIM			
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:0080600	COVID-19		ISO	RGD:1314062	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1314062	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054761	TK1	thymidine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054761	TK1	thymidine kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:736473	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054761	TK1	thymidine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054761	TK1	thymidine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:736473	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054761	TK1	thymidine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10883887|REF_RGD_ID:2317242
12054761	TK1	thymidine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054761	TK1	thymidine kinase 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:11474248|REF_RGD_ID:2317243
12054761	TK1	thymidine kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:15583816|REF_RGD_ID:2317237
12054761	TK1	thymidine kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12054761	TK1	thymidine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054761	TK1	thymidine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12054761	TK1	thymidine kinase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12054761	TK1	thymidine kinase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12054761	TK1	thymidine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054761	TK1	thymidine kinase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
12054761	TK1	thymidine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054761	TK1	thymidine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054772	MIR30D	microRNA mir-30d	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12054772	MIR30D	microRNA mir-30d	gene	DOID:3021	acute kidney failure		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12054772	MIR30D	microRNA mir-30d	gene	DOID:557	kidney disease		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31697999
12054772	MIR30D	microRNA mir-30d	gene	DOID:9000784	Fibrosis		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31697999
12054772	MIR30D	microRNA mir-30d	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12054772	MIR30D	microRNA mir-30d	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12054772	MIR30D	microRNA mir-30d	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048643
12054824	ALKAL2	ALK and LTK ligand 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12054824	ALKAL2	ALK and LTK ligand 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12054824	ALKAL2	ALK and LTK ligand 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602961	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054824	ALKAL2	ALK and LTK ligand 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054824	ALKAL2	ALK and LTK ligand 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054877	NHLH1	nescient helix-loop-helix 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054877	NHLH1	nescient helix-loop-helix 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0060496	respiratory allergy		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1349694	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1349694	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1617609	D	RGD:9068941	20250807	RGD			PMID:19571824|REF_RGD_ID:4892067
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:1205	allergic disease		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1617609	D	RGD:9068941	20250807	RGD			PMID:16988274|REF_RGD_ID:4892091
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1349694	D	RGD:9068941	20200609	RGD			PMID:20970515|REF_RGD_ID:5131087
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:4483	rhinitis		ISO	RGD:1349694	D	RGD:9068941	20200609	RGD			PMID:20625511|REF_RGD_ID:5131089
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9001488	Human Influenza		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20959327
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1349694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1342908	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054918	COX7A2L	cytochrome c oxidase subunit 7A2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054918	COX7A2L	cytochrome c oxidase subunit 7A2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054918	COX7A2L	cytochrome c oxidase subunit 7A2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054918	COX7A2L	cytochrome c oxidase subunit 7A2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:0080511	generalized intermediate epidermolysis bullosa simplex 1B		ISO	RGD:1603221	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type	PMID:27798626|PMID:27889062
12054925	KLHL24	kelch like family member 24	gene	DOID:10534	stomach cancer		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054925	KLHL24	kelch like family member 24	gene	DOID:1115	sarcoma		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1603221	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:27889062|PMID:30715372
12054925	KLHL24	kelch like family member 24	gene	DOID:1324	lung cancer		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054925	KLHL24	kelch like family member 24	gene	DOID:4362	cervical cancer		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054925	KLHL24	kelch like family member 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054925	KLHL24	kelch like family member 24	gene	DOID:630	genetic disease		ISO	RGD:1603221	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27889062|PMID:28492532|PMID:30715372
12054925	KLHL24	kelch like family member 24	gene	DOID:9006455	Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss		ISO	RGD:1603221	D	RGD:7240710	20190315	OMIM			
12054925	KLHL24	kelch like family member 24	gene	DOID:9006455	Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss		ISO	RGD:1603221	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss	PMID:25741868
12054925	KLHL24	kelch like family member 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054925	KLHL24	kelch like family member 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054925	KLHL24	kelch like family member 24	gene	DOID:9009148	Hypertrophic Cardiomyopathy 29		ISO	RGD:1603221	D	RGD:7240710	20230215	OMIM			
12054925	KLHL24	kelch like family member 24	gene	DOID:9009148	Hypertrophic Cardiomyopathy 29		ISO	RGD:1603221	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 29, WITH POLYGLUCOSAN BODIES | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | ClinVar Annotator: match by term: KLHL24-related condition	PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:30715372|PMID:35975634
12054925	KLHL24	kelch like family member 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054946	UBB	ubiquitin B	gene	DOID:1115	sarcoma		ISO	RGD:1344008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054946	UBB	ubiquitin B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344008	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22994484
12054946	UBB	ubiquitin B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054946	UBB	ubiquitin B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1354421	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:28492532|PMID:28679688
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1354421	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:26820066
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1354421	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532|PMID:28679688
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:28679688
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:11630301|RGD:11648839|RGD:11666864	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112092	nuclear type mitochondrial complex I deficiency 7		ISO	RGD:734286	D	RGD:7240710	20190315	OMIM			
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112092	nuclear type mitochondrial complex I deficiency 7		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 7 | ClinVar Annotator: match by term: NDUFV2-related condition	PMID:12754703|PMID:17576681|PMID:25741868|PMID:26008862|PMID:28492532|PMID:9536098
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:1115	sarcoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:1324	lung cancer		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:734286	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A29V	PMID:9570948|REF_RGD_ID:2302386
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:3312	bipolar disorder		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19135101
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:5041	esophageal cancer		ISO	RGD:734286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:5419	schizophrenia		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19135101
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:630	genetic disease		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:1909	melanoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:4362	cervical cancer		ISO	RGD:1602671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9003537	Phosphohydroxylysinuria		ISO	RGD:1602671	D	RGD:7240710	20180130	OMIM			
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9003537	Phosphohydroxylysinuria		ISO	RGD:1602671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Phosphohydroxylysinuria	PMID:25741868
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1606500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055011	LOC484969	zinc finger protein 177	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12055026	NCK1	NCK adaptor protein 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055026	NCK1	NCK adaptor protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12055026	NCK1	NCK adaptor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055026	NCK1	NCK adaptor protein 1	gene	DOID:576	proteinuria		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055026	NCK1	NCK adaptor protein 1	gene	DOID:9001542	Albuminuria		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055048	TECTB	tectorin beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1314106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055048	TECTB	tectorin beta	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12055048	TECTB	tectorin beta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:10534	stomach cancer		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:1115	sarcoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:1324	lung cancer		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:4362	cervical cancer		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:5041	esophageal cancer		ISO	RGD:1315889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19		ISO	RGD:730902	D	RGD:7240710	20260812	OMIM			
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 19 | ClinVar Annotator: match by term: GABRA1-related disorder	PMID:16718694|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:28837158|PMID:29186148|PMID:29389947|PMID:29655203|PMID:29758562|PMID:32238909|PMID:35937053|PMID:36584483|PMID:36672771|PMID:37606373|PMID:37809401
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1059	intellectual disability		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1059	intellectual disability		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:16718694|PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:28554332|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:11830	myopia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:11832	visual epilepsy		ISO	RGD:730902	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:30949046
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:12849	autistic disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:61855	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:15929193|REF_RGD_ID:6480237
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15929193
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1596	depressive disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4	PMID:16199547|PMID:16718694|PMID:21703448|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28837158|PMID:29655203|PMID:32238909|PMID:33767182|PMID:36672771|PMID:37606373|PMID:37809401
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure	PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24623842|PMID:25741868|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1827	generalized epilepsy		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:16199547|PMID:16718694|PMID:21703448|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28837158|PMID:29655203|PMID:32238909|PMID:33767182|PMID:36672771|PMID:37606373|PMID:37809401
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:2030	anxiety disorder		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:730902	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4990	essential tremor		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15765150
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:5119	ovarian cyst		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:630	genetic disease		ISO	RGD:730902	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21703448|PMID:24623842|PMID:25741868|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28492532|PMID:30977854|PMID:31440721|PMID:35937053|PMID:37606373|PMID:37809401
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:7998	hyperthyroidism		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:61855	D	RGD:9068941	20260416	RGD		mRNA:altered expression:medulla oblongata	PMID:22486438|REF_RGD_ID:645122583
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:61855	D	RGD:9068941	20231230	RGD			PMID:22428005|REF_RGD_ID:401940127
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004866	Ataxia		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12404077
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006302	Binge Drinking		ISO	RGD:61855	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:18414213|PMID:25741868|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9007204	Dysbiosis		ISO	RGD:62147	D	RGD:9068941	20250104	RGD		associated with alcohol dependence;mRNA:decreased expression:hippocampus	PMID:30417952|REF_RGD_ID:596938163
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730902	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27521439|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009305	Idiopathic Generalized Epilepsy 13		ISO	RGD:730902	D	RGD:7240710	20260812	OMIM			
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009305	Idiopathic Generalized Epilepsy 13		ISO	RGD:730902	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EJM5 | ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13 | ClinVar Annotator: match by term: GABRA1-related disorder	PMID:16199547|PMID:16718694|PMID:17576681|PMID:21703448|PMID:23934111|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28540321|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31056671|PMID:31164858|PMID:31440721|PMID:31785789|PMID:32238909|PMID:33057194|PMID:33767182|PMID:35937053|PMID:35982159|PMID:36672771|PMID:37606373|PMID:37809401|PMID:9536098
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:16718694|PMID:17576681|PMID:21703448|PMID:23934111|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28492532|PMID:28540321|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31056671|PMID:31164858|PMID:31440721|PMID:31785789|PMID:32238909|PMID:33057194|PMID:33767182|PMID:35937053|PMID:35982159|PMID:36672771|PMID:37606373|PMID:37809401|PMID:9536098
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:936	brain disease		ISO	RGD:730902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319135	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: autism spectrum disorder	PMID:25741868
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II		ISO	RGD:1317412	D	RGD:9068941	20220825	MouseDO		OMIM:210720	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:1909	melanoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:2843	long QT syndrome		ISO	RGD:1319135	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055166	KIAA0753	KIAA0753	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055166	KIAA0753	KIAA0753	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:29138412
12055166	KIAA0753	KIAA0753	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:29138412
12055166	KIAA0753	KIAA0753	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055166	KIAA0753	KIAA0753	gene	DOID:1115	sarcoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055166	KIAA0753	KIAA0753	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055166	KIAA0753	KIAA0753	gene	DOID:5041	esophageal cancer		ISO	RGD:1605106	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055166	KIAA0753	KIAA0753	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055166	KIAA0753	KIAA0753	gene	DOID:630	genetic disease		ISO	RGD:1605106	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29138412
12055166	KIAA0753	KIAA0753	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:7240710	20190315	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OFDS XV | ClinVar Annotator: match by term: ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV | ClinVar Annotator: match by term: Orofaciodigital syndrome XV	PMID:25741868|PMID:28492532|PMID:29138412
12055166	KIAA0753	KIAA0753	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12055166	KIAA0753	KIAA0753	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 38	PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34523780|PMID:9536098
12055166	KIAA0753	KIAA0753	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055166	KIAA0753	KIAA0753	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly	PMID:25741868|PMID:28492532|PMID:29138412|PMID:34523780
12055166	KIAA0753	KIAA0753	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605106	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055194	FGF1	fibroblast growth factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:20079650|REF_RGD_ID:5509878
12055194	FGF1	fibroblast growth factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:11908679|REF_RGD_ID:2290291
12055194	FGF1	fibroblast growth factor 1	gene	DOID:1115	sarcoma		ISO	RGD:735698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055194	FGF1	fibroblast growth factor 1	gene	DOID:1240	leukemia		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17219402
12055194	FGF1	fibroblast growth factor 1	gene	DOID:127	leiomyoma	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		protein:increased expression:uterus	PMID:16139411|REF_RGD_ID:2290287
12055194	FGF1	fibroblast growth factor 1	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myometrium	PMID:8685603|REF_RGD_ID:2298516
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:19497570|REF_RGD_ID:5509879
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Rat model using human FGF1	PMID:16635575|REF_RGD_ID:5509881
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:14613644|REF_RGD_ID:2290288
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		protein:increased expression:urine, urinary bladder	PMID:7690426|REF_RGD_ID:2298518
12055194	FGF1	fibroblast growth factor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16324872
12055194	FGF1	fibroblast growth factor 1	gene	DOID:5419	schizophrenia		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		GWAS result	PMID:17893707|REF_RGD_ID:5509880
12055194	FGF1	fibroblast growth factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055194	FGF1	fibroblast growth factor 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:24200746|REF_RGD_ID:10449026
12055194	FGF1	fibroblast growth factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:20488178|PMID:8662542|REF_RGD_ID:5509876|REF_RGD_ID:5509877
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:21663406|REF_RGD_ID:5509875
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Human FGF1 used in rat model of spinal cord injury	PMID:18482974|REF_RGD_ID:2317692
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms;mRNA:increased expression:lymph node	PMID:17242701|REF_RGD_ID:2290286
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:16720444|REF_RGD_ID:8655569
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174399
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878867
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:19497570|REF_RGD_ID:5509879
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Rat model using human FGF1	PMID:16635575|REF_RGD_ID:5509881
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004657	Weight Gain		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9006024	Hypotension		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9233905
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9296	cleft lip		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs34010 (human)	PMID:24613087|REF_RGD_ID:11567264
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1349014	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349014	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1349014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:1324	lung cancer		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055229	FN3K	fructosamine 3 kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:1909	melanoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:1603309	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Perrault syndrome 1	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1353804	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050984	spinocerebellar ataxia 37		ISO	RGD:1353804	D	RGD:7240710	20190315	OMIM			
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050984	spinocerebellar ataxia 37		ISO	RGD:1353804	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DAB1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 37 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 37	PMID:25741868|PMID:28686858
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0060673	Peters anomaly		ISO	RGD:1353804	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
12055239	DAB1	DAB adaptor protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353804	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15820235
12055239	DAB1	DAB adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353804	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebellum, Brodmann area 9 (human)	PMID:15820235|REF_RGD_ID:2317973
12055239	DAB1	DAB adaptor protein 1	gene	DOID:1824	status epilepticus		ISO	RGD:628770	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus (rat)	PMID:17314278|REF_RGD_ID:2317783
12055239	DAB1	DAB adaptor protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12055239	DAB1	DAB adaptor protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731739	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0111449	progressive myoclonus epilepsy 6		ISO	RGD:731739	D	RGD:7240710	20180130	OMIM			
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:28492532
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9003754	MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES		ISO	RGD:731739	D	RGD:7240710	20230301	OMIM			
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1347443	D	RGD:9068941	20221028	RGD		mRNA:increased expression:colorectum (human)	PMID:11358845|REF_RGD_ID:155631271
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0060260	ptosis		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:7240710	20200527	OMIM			
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 9 | ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Microphthalmia, syndromic 9 | ClinVar Annotator: match by term: STRA6-related condition	PMID:16199547|PMID:17273977|PMID:19309693|PMID:19839040|PMID:22283518|PMID:25044680|PMID:25741868|PMID:26893459|PMID:28492532|PMID:30639323|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:10534	stomach cancer		ISO	RGD:1347443	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1059	intellectual disability		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:10629	microphthalmia		ISO	RGD:1347443	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:11162	respiratory failure		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:11830	myopia		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1324	lung cancer		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:iris, retina (human)	PMID:30986821|REF_RGD_ID:155631292
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1682	congenital heart disease		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1826	epilepsy		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1891	optic nerve disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1909	melanoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1969	cerebral palsy		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:480	movement disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347443	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:630	genetic disease		ISO	RGD:1347443	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:850	lung disease		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:1332061	D	RGD:9068941	20221103	RGD		associated with type 2 diabetes mellitus	PMID:30096827|REF_RGD_ID:155631301
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		DNA:frameshift mutation, missense mutations:CDS:multiple (human)	PMID:17273977|REF_RGD_ID:155631287
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002642	Isolated Microphthalmia with Coloboma		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		DNA:missense mutation:CDS:p.G204K (human)	PMID:21901792|REF_RGD_ID:155631284
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9003539	Hyperacusis		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19839040|PMID:30653986|PMID:35181035
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307551	D	RGD:9068941	20221103	RGD		protein:decreased expression:optic cup (rat)	PMID:28734946|REF_RGD_ID:155631297
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:936	brain disease		ISO	RGD:1347443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19839040|PMID:30653986|PMID:35181035
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055344	GJD3	gap junction protein delta 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1308942	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:23385797|REF_RGD_ID:7364769
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:25741868
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:7240710	20180130	OMIM			
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26082521|PMID:26273430|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:2748677|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31816670|PMID:31964843|PMID:32359821|PMID:32448990|PMID:32531858|PMID:32686083|PMID:32949114|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36460718|PMID:36648511|PMID:37031301|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 10 | ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-Biedl syndrome type 10	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26082521|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:2814343|PMID:28143435|PMID:28492532|PMID:28502102|PMID:28761321|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30614526|PMID:30718709|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31951329|PMID:31964843|PMID:32359821|PMID:32448990|PMID:32531858|PMID:32835378|PMID:33302505|PMID:33964006|PMID:34122504|PMID:34940782|PMID:35055178|PMID:35112343|PMID:35140360|PMID:35764379|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36325687|PMID:36340607|PMID:36460718|PMID:37031301|PMID:37293956|PMID:37333983|PMID:37431782|PMID:37798099|PMID:38034494|PMID:38219857|PMID:39092430|PMID:39434570|PMID:39533427|PMID:39990901|PMID:6582908|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16582908|PMID:20498079|PMID:25741868|PMID:28492532|PMID:33046855|PMID:35112343|PMID:37333983
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:10908	hydrocephalus		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:30408610
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16582908|PMID:16823392|PMID:17576681|PMID:20080638|PMID:20472660|PMID:20498079|PMID:20805367|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26273430|PMID:26355662|PMID:26518167|PMID:2748677|PMID:27486776|PMID:27659767|PMID:28492532|PMID:28502102|PMID:28991257|PMID:29666954|PMID:29806606|PMID:29947050|PMID:30614526|PMID:31816670|PMID:31963381|PMID:31964843|PMID:32361989|PMID:32531858|PMID:32949114|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35886001|PMID:36648511|PMID:5982971|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:2975	cystic kidney disease		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:30408610
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:4362	cervical cancer		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:5723	optic atrophy		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:630	genetic disease		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12083524|PMID:21052717|PMID:21209035|PMID:21642631|PMID:25741868|PMID:28492532|PMID:8861908
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605944	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20472660|PMID:22773737|PMID:25741868|PMID:25982971|PMID:27486776|PMID:28492532|PMID:35886001
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:9000363	Hematuria		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868|PMID:30408610
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1605944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:30408610
12055432	MIR34B	microRNA mir-34b	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1352034	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR	PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532
12055432	MIR34B	microRNA mir-34b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352034	D	RGD:9068941	20200609	RGD			PMID:21558425|REF_RGD_ID:10755477
12055432	MIR34B	microRNA mir-34b	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:9000918	Disease Progression		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12055432	MIR34B	microRNA mir-34b	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22113133
12055432	MIR34B	microRNA mir-34b	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21339737|PMID:25105010
12055432	MIR34B	microRNA mir-34b	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21339737
12055432	MIR34B	microRNA mir-34b	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12055435	MIR496	microRNA mir-496	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1603768	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12055543	CD38	CD38 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055543	CD38	CD38 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055543	CD38	CD38 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055543	CD38	CD38 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055543	CD38	CD38 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12055543	CD38	CD38 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055543	CD38	CD38 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055543	CD38	CD38 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055543	CD38	CD38 molecule	gene	DOID:9001542	Albuminuria		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21992601
12055543	CD38	CD38 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:16343077|REF_RGD_ID:2307239
12055543	CD38	CD38 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12055543	CD38	CD38 molecule	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19073639|REF_RGD_ID:2307227
12055543	CD38	CD38 molecule	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735841	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19300526|REF_RGD_ID:2307228
12055543	CD38	CD38 molecule	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2303	D	RGD:9068941	20200609	RGD			PMID:18719074|REF_RGD_ID:2307236
12055543	CD38	CD38 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055543	CD38	CD38 molecule	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		protein:increased activity:ventricle myocardium	PMID:12111041|REF_RGD_ID:2307243
12055543	CD38	CD38 molecule	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12055543	CD38	CD38 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:7669044|REF_RGD_ID:2307234
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:12242463|REF_RGD_ID:2307232
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.R140W (human)	PMID:9754820|REF_RGD_ID:2307233
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731646	D	RGD:9068941	20200609	RGD			PMID:16920929|REF_RGD_ID:2307229
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731646	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:16459468|REF_RGD_ID:2307230
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus	disease_progression	ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:12488956|REF_RGD_ID:2307231
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604009	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:10534	stomach cancer		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:1909	melanoma		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:5419	schizophrenia		ISO	RGD:732735	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:732166	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:732166	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:1115	sarcoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:1324	lung cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:1909	melanoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:732166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9000793	Fine-Lubinsky Syndrome		ISO	RGD:732166	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Fine-Lubinsky Syndrome	PMID:25741868
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129143
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312695	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:9008973	Familial Persistent Stuttering 4		ISO	RGD:1312695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stuttering, familial persistent, 4	PMID:25741868|PMID:36553564|PMID:39221575
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Phaeochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18057081|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763152|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20307669|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:21172883|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25405498|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMA, FAMILIAL MALIGNANT | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24758379|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37900184|PMID:38473309|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102086|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18753105|PMID:18840642|PMID:19075037|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:21348866|PMID:22041710|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23934599|PMID:24033266|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24606901|PMID:24659481|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26198225|PMID:26302408|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28152038|PMID:28179334|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31194233|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32741965|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:34255389|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35460558|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19768395|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20981092|PMID:21348866|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28873162|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31194233|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:33789101|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35127314|PMID:35441217|PMID:35460558|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061218	pheochromocytoma/paraganglioma syndrome 3		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, FAMILIAL EXTRAADRENAL | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25637381|PMID:25683602|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37900184|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061219	pheochromocytoma/paraganglioma syndrome 4		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0061219	pheochromocytoma/paraganglioma syndrome 4		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 4	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14715873|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20505258|PMID:20540712|PMID:20592014|PMID:20702724|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24466223|PMID:24595825|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:30949620|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:12000816|PMID:12213855|PMID:12618761|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16199547|PMID:16288654|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17376234|PMID:17538171|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19351833|PMID:19393419|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19802898|PMID:20119652|PMID:20208144|PMID:20418362|PMID:20459544|PMID:21173220|PMID:21348866|PMID:21820839|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23666964|PMID:23780556|PMID:23902947|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24623741|PMID:25025441|PMID:25047027|PMID:25298897|PMID:25371406|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26749241|PMID:26916530|PMID:27011036|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30201732|PMID:30352407|PMID:31308404|PMID:31492822|PMID:31705439|PMID:32150977|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:33300499|PMID:33362715|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34095481|PMID:34308366|PMID:34439168|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35546442|PMID:35957908|PMID:36597280|PMID:36786389|PMID:41252211
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:23434467|PMID:28374168|PMID:28492532|PMID:30050099|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:1909	melanoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16258955|PMID:17576681|PMID:19389109|PMID:19802898|PMID:2308387|PMID:23083876|PMID:24436918|PMID:25741868|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28973655|PMID:29386252|PMID:30201732|PMID:34906457|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:23780556|PMID:25741868|PMID:28492532
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:16317055|PMID:16472267|PMID:16912137|PMID:17667967|PMID:17804857|PMID:18419787|PMID:20418362|PMID:20459544|PMID:23512077|PMID:23666964|PMID:25741868|PMID:26467025|PMID:26556299|PMID:28374168|PMID:28492532|PMID:29909963|PMID:30050099|PMID:30201732|PMID:31492822|PMID:33300499|PMID:33362715|PMID:35441217
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:540	strabismus		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:5723	optic atrophy		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6457	Cowden syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cowden disease	PMID:17376234|PMID:25694510|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28819017|PMID:28873162|PMID:30086788|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer	PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:22977270|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:30549360|PMID:31216007|PMID:32460727|PMID:33558524|PMID:34906457|PMID:41252211
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ataxia telangiectasia variant V1	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002162	Carotid Body Tumor		ISO	RGD:1318463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carotid body tumor	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28179334|PMID:28492532|PMID:30050099|PMID:31492822|PMID:40094795
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002552	Cowden-Like Syndrome		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COWDEN SYNDROME 2	PMID:25741868|PMID:26729832|PMID:28492532|PMID:31104306
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:7240710	20210324	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4	PMID:12000816|PMID:12213855|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16080530|PMID:16199547|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17538171|PMID:17652212|PMID:17667967|PMID:17884808|PMID:18382370|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19351833|PMID:19393419|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19802898|PMID:20119652|PMID:20208144|PMID:20418362|PMID:21173220|PMID:21561462|PMID:21820839|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23902947|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25298897|PMID:25371406|PMID:25637381|PMID:25683602|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28873162|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30201732|PMID:30352407|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31705439|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:33362715|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34095481|PMID:34118692|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:35441217|PMID:35546442|PMID:36200007|PMID:36597280|PMID:36786389|PMID:41252211
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15987702|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17884808|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19215943|PMID:19261994|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19802898|PMID:19825962|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20960097|PMID:21173220|PMID:21348866|PMID:21561462|PMID:21820839|PMID:21909610|PMID:21979946|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22835832|PMID:22904323|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24728327|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26173966|PMID:26269449|PMID:26273102|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27539324|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30352407|PMID:30536464|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32863293|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33789101|PMID:34069252|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34750850|PMID:34906457|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35673401|PMID:35904169|PMID:36200007|PMID:36597280|PMID:36786389|PMID:38473309|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21270786|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21716271|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23698643|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25974703|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19618298|PMID:19694205|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:37900184|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102086|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20583550|PMID:20605972|PMID:20890271|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21686655|PMID:21784903|PMID:21822798|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23833252|PMID:23934599|PMID:24033266|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24436918|PMID:24606901|PMID:24659481|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26096992|PMID:26198225|PMID:26236513|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26960314|PMID:27159321|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28891197|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:34072806|PMID:34255389|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20605972|PMID:20890271|PMID:20981092|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27279923|PMID:27539324|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29684080|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34069252|PMID:34072806|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35171114|PMID:35441217|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12362046|PMID:12364472|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15371856|PMID:15473885|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102083|PMID:17102086|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19153209|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20605972|PMID:20890271|PMID:20981092|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27700540|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32150977|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33777662|PMID:33789101|PMID:34072806|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20890271|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22160509|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22835832|PMID:22904323|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24276837|PMID:24436918|PMID:24606901|PMID:24623741|PMID:24659481|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28255624|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33247927|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36593350|PMID:36597280|PMID:36652439|PMID:36654613|PMID:36786389|PMID:36848172|PMID:37529773|PMID:37873498|PMID:37900184|PMID:38473309|PMID:41252211|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007167	Carney Triad		ISO	RGD:1318463	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Carney triad	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:24623741|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252|PMID:30050099|PMID:30201732|PMID:31308404|PMID:32782288|PMID:34308366|PMID:34906457|PMID:36786389
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16080530|PMID:18382370|PMID:18753105|PMID:19351833|PMID:19454582|PMID:19522823|PMID:19802898|PMID:21561462|PMID:23735539|PMID:24659481|PMID:25047027|PMID:25741868|PMID:26960314|PMID:27573198|PMID:28490599|PMID:28492532|PMID:29386252|PMID:29951630|PMID:30050099|PMID:30201732|PMID:30658386|PMID:31212687|PMID:31216007|PMID:31492822|PMID:32462735|PMID:33748650|PMID:34118692|PMID:34439168|PMID:34439371|PMID:41252211
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35460558|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16450730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17636058|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18502330|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19153209|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19768395|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:20981092|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22584711|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22938532|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24735130|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25376524|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26071763|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26182300|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27882345|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28369925|PMID:28374168|PMID:28409892|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29510530|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31431315|PMID:31492822|PMID:31579262|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32062700|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32782288|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34313605|PMID:34326862|PMID:34377882|PMID:34426522|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34703596|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:34949766|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35869040|PMID:35870552|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:37734265|PMID:37840772|PMID:37900184|PMID:38473309|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12560550|PMID:12618761|PMID:12807974|PMID:14500403|PMID:14685938|PMID:14974914|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:17102082|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19389109|PMID:19393419|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19618298|PMID:19763184|PMID:19802898|PMID:19825962|PMID:2|PMID:2010|PMID:20119652|PMID:20208144|PMID:20301715|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20563860|PMID:20583550|PMID:20592014|PMID:21172883|PMID:21173220|PMID:21190975|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21686655|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22835832|PMID:22904323|PMID:22948025|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23162105|PMID:23175444|PMID:23282968|PMID:23404858|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24436918|PMID:24623741|PMID:24659481|PMID:24781345|PMID:24859990|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25215250|PMID:25298897|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26173966|PMID:26198225|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27262318|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28349240|PMID:28374168|PMID:28469506|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:3|PMID:30050099|PMID:30086788|PMID:30087776|PMID:30122763|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31883676|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32741965|PMID:32782288|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:33789101|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34750850|PMID:34797335|PMID:34906457|PMID:34939938|PMID:34949766|PMID:35127314|PMID:35171114|PMID:35300626|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35869040|PMID:35904169|PMID:35957908|PMID:36200007|PMID:36288950|PMID:36387130
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:36593350|PMID:36597280|PMID:36652439|PMID:36786389|PMID:36936415|PMID:37529773|PMID:37900184|PMID:38473309|PMID:40213107|PMID:41252211|PMID:7143317|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318464	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:1308598	D	RGD:9068941	20230831	RGD		associated with obesity	PMID:35257523|REF_RGD_ID:401794445
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
12055691	BACE2	beta-secretase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12055691	BACE2	beta-secretase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055691	BACE2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:gyrus:	PMID:22074738|REF_RGD_ID:13782172
12055691	BACE2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:exon:	PMID:16023140|REF_RGD_ID:13782180
12055691	BACE2	beta-secretase 2	gene	DOID:1115	sarcoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12055691	BACE2	beta-secretase 2	gene	DOID:1324	lung cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055691	BACE2	beta-secretase 2	gene	DOID:1909	melanoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055691	BACE2	beta-secretase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12055691	BACE2	beta-secretase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12055691	BACE2	beta-secretase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055691	BACE2	beta-secretase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055691	BACE2	beta-secretase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055691	BACE2	beta-secretase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055691	BACE2	beta-secretase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		mRNA,protein, activity:increased expression, increased activity:gyrus:	PMID:22074738|REF_RGD_ID:13782172
12055691	BACE2	beta-secretase 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1551409	D	RGD:9068941	20200609	RGD			PMID:28337562|REF_RGD_ID:13782177
12055703	HAT1	histone acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1305716	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:17182829|REF_RGD_ID:2316578
12055703	HAT1	histone acetyltransferase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055703	HAT1	histone acetyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733664	D	RGD:7240710	20180130	OMIM			
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733664	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets,  X-linked | ClinVar Annotator: match by term: X-linked Hypophosphatemic Rickets | ClinVar Annotator: match by term: X-linked hypophosphatemic rickets | ClinVar Annotator: match by term: XLH	PMID:10439971|PMID:10737991|PMID:10874297|PMID:11004247|PMID:11502821|PMID:11502829|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21050253|PMID:21902834|PMID:22261628|PMID:22319799|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24102521|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25086671|PMID:25525159|PMID:25741868|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26894575|PMID:27840894|PMID:28492532|PMID:28506344|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29644095|PMID:29858904|PMID:30298486|PMID:30476936|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31216405|PMID:31910300|PMID:32253725|PMID:32329911|PMID:32619592|PMID:32772199|PMID:33639975|PMID:33666701|PMID:33852231|PMID:34006472|PMID:34141703|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35654784|PMID:35738466|PMID:35842615|PMID:36482408|PMID:36530187|PMID:36672821|PMID:37059315|PMID:37334733|PMID:38057384|PMID:38442738|PMID:40126839|PMID:41043570|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:15029877|REF_RGD_ID:11556244
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:1074	kidney failure		ISO	RGD:3323	D	RGD:9068941	20200609	RGD		mRNA:increased expression:parathroid gland,tibia:	PMID:14693675|REF_RGD_ID:11556273
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:10754	otitis media		ISO	RGD:11097	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:1115	sarcoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9430241
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:630	genetic disease		ISO	RGD:733664	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34806794|PMID:36051396
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:824	periodontitis		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9000099	Experimental Colitis		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone:	PMID:16890604|REF_RGD_ID:11556253
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001197	Unilateral Deafness with Delayed Endolymphatic Hydrops		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:	PMID:18289812|REF_RGD_ID:11556245
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22319799|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:37059315|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:11004247|PMID:11502829|PMID:16199547|PMID:16636593|PMID:18162710|PMID:19219621|PMID:22261628|PMID:22319799|PMID:23466123|PMID:25031893|PMID:25741868|PMID:26040324|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:30298486|PMID:30607568|PMID:30682568|PMID:32329911|PMID:34633109|PMID:35738466|PMID:36482408|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10439971|PMID:11004247|PMID:11502829|PMID:14564077|PMID:16199547|PMID:17576681|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21050253|PMID:21902834|PMID:22261628|PMID:22319799|PMID:22695891|PMID:23466123|PMID:24102521|PMID:24836714|PMID:24857004|PMID:25525159|PMID:25741868|PMID:26040324|PMID:26402641|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:30298486|PMID:30607568|PMID:30682568|PMID:32253725|PMID:32329911|PMID:33639975|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:35842615|PMID:36482408|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9004552	Genu Varum		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:25741868|PMID:28492532
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:19219621|PMID:22695891|PMID:25741868|PMID:28492532|PMID:33666701|PMID:9097956|PMID:9106524
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11414762|PMID:18775977|PMID:3414685|PMID:9430241
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:733664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1962291
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:1324	lung cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:1909	melanoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:3275	thymoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9002801	Recurrence		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315462	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1315462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12055840	HS3ST5	heparan sulfate-glucosamine 3-sulfotransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1314962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1319222	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:multiple(human)	PMID:30541770|REF_RGD_ID:13831344
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1319222	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.D148E (human)	PMID:15887293|REF_RGD_ID:2315675
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:19041121|REF_RGD_ID:2315660
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:114	heart disease		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22262564
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1606343	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:20446108
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:13129	severe pre-eclampsia	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20231026	RGD		DNA:polymorphism::p.D148E (human)	PMID:24619222|REF_RGD_ID:401850778
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human)	PMID:11465542|REF_RGD_ID:2315878
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.D148E (human)	PMID:18701435|REF_RGD_ID:2315661
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1824	status epilepticus		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:11852039|REF_RGD_ID:1599366
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2316	brain ischemia		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus CA1, neuron	PMID:9030714|REF_RGD_ID:2315686
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:17974506|PMID:19787261|REF_RGD_ID:2315656|REF_RGD_ID:2315663
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:19202550|REF_RGD_ID:2315691
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:11748448|REF_RGD_ID:2315667
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606343	D	RGD:9068941	20260709	RGD			PMID:19292061|REF_RGD_ID:2315657
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606343	D	RGD:9068941	20260709	RGD		DNA:polymorphism: :p.D148E (human)	PMID:18503157|REF_RGD_ID:2315662
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20230928	RGD		DNA:polymorphism:exon 5: G>A (human)	PMID:18712175|REF_RGD_ID:401827276
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606343	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:25109342
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2126	D	RGD:9068941	20220714	RGD			PMID:33841550|REF_RGD_ID:152998960
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:850	lung disease		ISO	RGD:2126	D	RGD:9068941	20200609	RGD			PMID:17280489|REF_RGD_ID:2315673
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:prostate, cytoplasm	PMID:11309329|REF_RGD_ID:2315666
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:18637713|REF_RGD_ID:2315670
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11447995
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16406883|PMID:29541389
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:prostate, cytoplasm	PMID:11309329|REF_RGD_ID:2315666
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:16406883|REF_RGD_ID:2315665
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2126	D	RGD:9068941	20200609	RGD			PMID:15344903|REF_RGD_ID:2315676
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:increased expression:placenta	PMID:18373555|REF_RGD_ID:2315671
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22245109
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2126	D	RGD:9068941	20241107	RGD		protein:increased expression:neuron	PMID:15854596|REF_RGD_ID:2302852
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:17602955|REF_RGD_ID:2315672
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055945	SMTNL1	smoothelin like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055945	SMTNL1	smoothelin like 1	gene	DOID:1909	melanoma		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055945	SMTNL1	smoothelin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:11162	respiratory failure		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:7240710	20190501	OMIM			
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AGTPBP1-related disorder | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy	PMID:25741868|PMID:30420557|PMID:33624935
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16952463
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:25741868|PMID:30420557
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12055991	NUP62	nucleoporin 62	gene	DOID:12236	primary biliary cholangitis	severity	ISO	RGD:1349933	D	RGD:9068941	20200609	RGD			PMID:12753810|REF_RGD_ID:9831196
12055991	NUP62	nucleoporin 62	gene	DOID:9008334	Striatonigral Degeneration, Infantile		ISO	RGD:1349933	D	RGD:7240710	20180130	OMIM			
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1317417	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12056003	R3HCC1L	R3H domain and coiled-coil containing 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:1909	melanoma		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:3275	thymoma		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:7240710	20180130	OMIM			
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome	PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21129728|PMID:25741868|PMID:28492532
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30872814
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:10534	stomach cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:1324	lung cancer		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:3275	thymoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1348258	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:  frontal cortex	PMID:15485486|REF_RGD_ID:10411900
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1616662	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:neocortex (mouse)	PMID:21912965|REF_RGD_ID:9686062
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:1115	sarcoma		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:17855600|REF_RGD_ID:10411908
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:1824	status epilepticus		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:20971086|REF_RGD_ID:10411905
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:1824	status epilepticus		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat)	PMID:17942314|REF_RGD_ID:9686050
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1348258	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20971086
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:17855600|REF_RGD_ID:10411908
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:7240710	20190315	OMIM			
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 18, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18	PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:32367404|PMID:37104040|PMID:9536098
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:12336	male infertility		ISO	RGD:1615463	D	RGD:9068941	20240111	MouseDO			
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:3275	thymoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:5419	schizophrenia		ISO	RGD:1606283	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606283	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098
12056120	DHX33	DEAH-box helicase 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:1324	lung cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:4362	cervical cancer		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:5041	esophageal cancer		ISO	RGD:1316314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056120	DHX33	DEAH-box helicase 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056135	RPL32	ribosomal protein L32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056135	RPL32	ribosomal protein L32	gene	DOID:10534	stomach cancer		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056135	RPL32	ribosomal protein L32	gene	DOID:1115	sarcoma		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056135	RPL32	ribosomal protein L32	gene	DOID:12849	autistic disorder		ISO	RGD:1602666	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
12056135	RPL32	ribosomal protein L32	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056135	RPL32	ribosomal protein L32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056135	RPL32	ribosomal protein L32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056135	RPL32	ribosomal protein L32	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:7240710	20190315	OMIM			
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1	PMID:25741868
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:1909	melanoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:4362	cervical cancer		ISO	RGD:1344782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:630	genetic disease		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1344782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507423
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056165	FXN	frataxin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056165	FXN	frataxin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056165	FXN	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:7240710	20180130	OMIM			
12056165	FXN	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Friedreich ataxia 1	PMID:15936968|PMID:17703324|PMID:20156111|PMID:24665325|PMID:25741868|PMID:26467025|PMID:26635519|PMID:26704351|PMID:28082330|PMID:28812047|PMID:30021846|PMID:31993871|PMID:33004675|PMID:34906502|PMID:38891993|PMID:40376404
12056165	FXN	frataxin	gene	DOID:0111219	Friedreich ataxia 2		ISO	RGD:1604403	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
12056165	FXN	frataxin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:15936968|PMID:17703324|PMID:20156111|PMID:25741868|PMID:26467025|PMID:26704351|PMID:28082330|PMID:30021846|PMID:31993871|PMID:33004675|PMID:38891993|PMID:40376404
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FRIEDREICH ATAXIA	PMID:21412413|PMID:21671584|PMID:8751856
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia	onset	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD		DNA:repeat,deletion:intron,exon:GAA(human)	PMID:22409940|REF_RGD_ID:401793711
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia	treatment	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD			PMID:22113996|PMID:32646255|PMID:37166361|REF_RGD_ID:401793707|REF_RGD_ID:401793708|REF_RGD_ID:401793713
12056165	FXN	frataxin	gene	DOID:3068	glioblastoma		ISO	RGD:1604403	D	RGD:9068941	20230817	RGD			PMID:21863062|REF_RGD_ID:401793715
12056165	FXN	frataxin	gene	DOID:3275	thymoma		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056165	FXN	frataxin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056165	FXN	frataxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056165	FXN	frataxin	gene	DOID:630	genetic disease		ISO	RGD:1604403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15936968|PMID:17703324|PMID:20156111|PMID:25741868|PMID:26467025|PMID:26704351|PMID:28082330|PMID:30021846|PMID:31993871|PMID:33004675|PMID:38891993|PMID:40376404
12056165	FXN	frataxin	gene	DOID:9000777	Mitochondrial Cardiomyopathy	treatment	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD		associated with Friedreich ataxia	PMID:24705334|REF_RGD_ID:401793714
12056165	FXN	frataxin	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1551716	D	RGD:9068941	20230812	RGD			PMID:27537261|REF_RGD_ID:401793704
12056165	FXN	frataxin	gene	DOID:9001725	Retina Reperfusion Injury	ameliorates	ISO	RGD:1604403	D	RGD:9068941	20230812	RGD			PMID:27537261|REF_RGD_ID:401793704
12056165	FXN	frataxin	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1604403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26954031
12056165	FXN	frataxin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:10969848|REF_RGD_ID:2307049
12056165	FXN	frataxin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056165	FXN	frataxin	gene	DOID:9351	diabetes mellitus		ISO	RGD:1551716	D	RGD:9068941	20200609	RGD		DNA:deletion:exon (mouse)	PMID:12925693|REF_RGD_ID:2307048
12056165	FXN	frataxin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:9588463|REF_RGD_ID:2307050
12056165	FXN	frataxin	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:10102715|REF_RGD_ID:2307051
12056165	FXN	frataxin	gene	DOID:9970	obesity		ISO	RGD:1551716	D	RGD:9068941	20200609	RGD		DNA:deletion:exon (mouse)	PMID:17404227|REF_RGD_ID:2307045
12056174	ASPN	asporin	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:20144272|REF_RGD_ID:9684964
12056174	ASPN	asporin	gene	DOID:8398	osteoarthritis		ISO	RGD:1345823	D	RGD:7240710	20260729	OMIM			
12056174	ASPN	asporin	gene	DOID:8398	osteoarthritis	no_association	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:16542493|REF_RGD_ID:9684966
12056174	ASPN	asporin	gene	DOID:90	degenerative disc disease	severity	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intervertebral disk:	PMID:19327154|REF_RGD_ID:9684961
12056174	ASPN	asporin	gene	DOID:90	degenerative disc disease	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:18304494|REF_RGD_ID:9684970
12056174	ASPN	asporin	gene	DOID:9000058	Keloid		ISO	RGD:1345823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12056174	ASPN	asporin	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1345823	D	RGD:7240710	20260729	OMIM			
12056174	ASPN	asporin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056174	ASPN	asporin	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9007078	Hip Dislocation	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:21329514|REF_RGD_ID:9684968
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1323284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:11612010	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:25057215|PMID:25741868
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:1324	lung cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:1909	melanoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056258	PEAK3	PEAK family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056258	PEAK3	PEAK family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1352021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056258	PEAK3	PEAK family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056266	TMEM187	transmembrane protein 187	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056266	TMEM187	transmembrane protein 187	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056266	TMEM187	transmembrane protein 187	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056285	IPO8	importin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056285	IPO8	importin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056285	IPO8	importin 8	gene	DOID:0060058	lymphoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12056285	IPO8	importin 8	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: umbilical hernias	PMID:25741868
12056285	IPO8	importin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056285	IPO8	importin 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056285	IPO8	importin 8	gene	DOID:1324	lung cancer		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056285	IPO8	importin 8	gene	DOID:1909	melanoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056285	IPO8	importin 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12056285	IPO8	importin 8	gene	DOID:3070	high grade glioma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12056285	IPO8	importin 8	gene	DOID:4362	cervical cancer		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056285	IPO8	importin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1343350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056285	IPO8	importin 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056285	IPO8	importin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056285	IPO8	importin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056285	IPO8	importin 8	gene	DOID:630	genetic disease		ISO	RGD:1343350	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12056285	IPO8	importin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056285	IPO8	importin 8	gene	DOID:9004471	VISS syndrome		ISO	RGD:1343350	D	RGD:7240710	20211027	OMIM			
12056285	IPO8	importin 8	gene	DOID:9004471	VISS syndrome		ISO	RGD:1343350	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: IPO8-related condition | ClinVar Annotator: match by term: VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY | ClinVar Annotator: match by term: VISS SYNDROME | ClinVar Annotator: match by term: VISS syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605
12056285	IPO8	importin 8	gene	DOID:9005077	Joint Instability		ISO	RGD:1343350	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12056285	IPO8	importin 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056285	IPO8	importin 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056285	IPO8	importin 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1343350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:10534	stomach cancer		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:1115	sarcoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:4362	cervical cancer		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:0060058	lymphoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12056331	HOPX	HOP homeobox	gene	DOID:10534	stomach cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056331	HOPX	HOP homeobox	gene	DOID:1115	sarcoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056331	HOPX	HOP homeobox	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603377	D	RGD:9068941	20230824	RGD		mRNA:decreased expression:left ventricle	PMID:12920479|REF_RGD_ID:401793745
12056331	HOPX	HOP homeobox	gene	DOID:2394	ovarian cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12056331	HOPX	HOP homeobox	gene	DOID:3275	thymoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056331	HOPX	HOP homeobox	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603377	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056331	HOPX	HOP homeobox	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12056331	HOPX	HOP homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056331	HOPX	HOP homeobox	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056331	HOPX	HOP homeobox	gene	DOID:9256	colorectal cancer		ISO	RGD:1603377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056348	MIR193B	microRNA mir-193b	gene	DOID:0050860	colorectal adenoma	disease_progression	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:blood plasma (human)	PMID:29226653|REF_RGD_ID:153344556
12056348	MIR193B	microRNA mir-193b	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:2314108	D	RGD:9068941	20230223	RGD			PMID:33403385|REF_RGD_ID:156420156
12056348	MIR193B	microRNA mir-193b	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:stomach (human)	PMID:27071318|REF_RGD_ID:153344555
12056348	MIR193B	microRNA mir-193b	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:stomach (human)	PMID:25374225|REF_RGD_ID:153344565
12056348	MIR193B	microRNA mir-193b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603767	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12056348	MIR193B	microRNA mir-193b	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:2043	hepatitis B		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1603767	D	RGD:9068941	20260430	RGD		protein:decreased expression:lung	PMID:39972491|REF_RGD_ID:645238728
12056348	MIR193B	microRNA mir-193b	gene	DOID:6000	congestive heart failure		ISO	RGD:1603767	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12056348	MIR193B	microRNA mir-193b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:9256	colorectal cancer		ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:blood plasma (human)	PMID:29226653|REF_RGD_ID:153344556
12056386	RPS2	ribosomal protein S2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12056386	RPS2	ribosomal protein S2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056386	RPS2	ribosomal protein S2	gene	DOID:1115	sarcoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:1826	epilepsy		ISO	RGD:126735466|RGD:156439480|RGD:405876506	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
12056386	RPS2	ribosomal protein S2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:3275	thymoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:5041	esophageal cancer		ISO	RGD:732314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056386	RPS2	ribosomal protein S2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056386	RPS2	ribosomal protein S2	gene	DOID:9002669	Hypoxia		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
12056386	RPS2	ribosomal protein S2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056386	RPS2	ribosomal protein S2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056405	PRSS8	serine protease 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056405	PRSS8	serine protease 8	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:730926	D	RGD:9068941	20220825	MouseDO		OMIM:242500	
12056405	PRSS8	serine protease 8	gene	DOID:0080074	neural tube defect		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:2394	ovarian cancer		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11584061|REF_RGD_ID:2292486
12056405	PRSS8	serine protease 8	gene	DOID:3459	breast carcinoma		ISO	RGD:730925	D	RGD:9068941	20200609	RGD			PMID:11774283|REF_RGD_ID:2292485
12056405	PRSS8	serine protease 8	gene	DOID:37	skin disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
12056405	PRSS8	serine protease 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056405	PRSS8	serine protease 8	gene	DOID:780	placenta disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9001984	Fetal Diseases		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16541421
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:11173941|REF_RGD_ID:2292487
12056405	PRSS8	serine protease 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730925	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056405	PRSS8	serine protease 8	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:9256	colorectal cancer		ISO	RGD:730925	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056405	PRSS8	serine protease 8	gene	DOID:987	alopecia		ISO	RGD:619973	D	RGD:9068941	20211022	RGD		DNA:deletion:cds:exon 3 (rat)	PMID:20201958|REF_RGD_ID:150520038
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:1115	sarcoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:11396	pulmonary edema		ISO	RGD:1323758	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323758	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:38901789
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:1324	lung cancer		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:733606	D	RGD:9068941	20200609	RGD			PMID:26826269|REF_RGD_ID:13524551
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:5113	nutritional deficiency disease		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514262
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:16550608|PMID:16947863|PMID:25741868|PMID:25910212|PMID:28492532|PMID:30256826|PMID:33332384|PMID:34308104
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:7240710	20180130	OMIM			
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: XPB/CS | ClinVar Annotator: match by term: Xeroderma pigmentosum group B | ClinVar Annotator: match by term: xeroderma pigmentosum group B	PMID:16947863|PMID:25741868|PMID:26884178|PMID:28492532|PMID:28873162|PMID:29376097|PMID:30256826|PMID:33332384|PMID:34308104
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T119P (human)	PMID:9012405|REF_RGD_ID:13207496
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:7240710	20180130	OMIM			
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ERCC3-related condition | ClinVar Annotator: match by term: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE | ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive	PMID:16947863|PMID:25741868|PMID:26884178|PMID:28492532|PMID:28873162|PMID:29376097|PMID:30256826|PMID:33332384|PMID:34308104
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:9714461|REF_RGD_ID:5688738
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:1307139	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:9763211|REF_RGD_ID:2302855
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:14250	Down syndrome		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (human)	PMID:10328528|REF_RGD_ID:13207452
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16947863|PMID:35101336
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:1909	melanoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1316156	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1316156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME	PMID:16199547|PMID:16947863|PMID:25741868|PMID:28492532|PMID:33332384|PMID:34308104
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.2064+741T>C (rs3738948) (human)	PMID:25069034|REF_RGD_ID:11098167
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1316156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:630	genetic disease		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16550608|PMID:16947863|PMID:25741868|PMID:25910212|PMID:26884178|PMID:28492532|PMID:29376097
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hearing loss	PMID:16947863|PMID:28492532|PMID:31541171
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G,  (rs2271026, rs4150441) (human)	PMID:16835333|REF_RGD_ID:13207447
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1316156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1316156	D	RGD:9068941	20221006	RGD		mRNA:increased expression:colorectum (human)	PMID:16951227|REF_RGD_ID:155260343
12056511	ILK	integrin linked kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056511	ILK	integrin linked kinase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056511	ILK	integrin linked kinase	gene	DOID:0060118	thoracic disease		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23045294
12056511	ILK	integrin linked kinase	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:17576681|PMID:28492532|PMID:9536098
12056511	ILK	integrin linked kinase	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732855	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29915097|PMID:33874732
12056511	ILK	integrin linked kinase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
12056511	ILK	integrin linked kinase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms	PMID:15704679|REF_RGD_ID:2301731
12056511	ILK	integrin linked kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE	
12056511	ILK	integrin linked kinase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:732855	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23045294
12056511	ILK	integrin linked kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:732855	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12056511	ILK	integrin linked kinase	gene	DOID:1826	epilepsy		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20064661
12056511	ILK	integrin linked kinase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15472100
12056511	ILK	integrin linked kinase	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary, surface of epithelium (human)	PMID:14517840|REF_RGD_ID:13441558
12056511	ILK	integrin linked kinase	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004)	PMID:11448915|REF_RGD_ID:2301734
12056511	ILK	integrin linked kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16941698
12056511	ILK	integrin linked kinase	gene	DOID:9004271	Colonic Polyps		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11593435
12056511	ILK	integrin linked kinase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732855	D	RGD:9068941	20200609	RGD		late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands	PMID:11704830|REF_RGD_ID:2301733
12056511	ILK	integrin linked kinase	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18702665|PMID:19629758
12056511	ILK	integrin linked kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056528	SNRK	SNF related kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056528	SNRK	SNF related kinase	gene	DOID:1909	melanoma		ISO	RGD:735399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056528	SNRK	SNF related kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:735399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056528	SNRK	SNF related kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056528	SNRK	SNF related kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056539	FAM217A	family with sequence similarity 217 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056539	FAM217A	family with sequence similarity 217 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:0080600	COVID-19		ISO	RGD:1348902	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:1115	sarcoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:1324	lung cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:1909	melanoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:4362	cervical cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:5041	esophageal cancer		ISO	RGD:1348902	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:9256	colorectal cancer		ISO	RGD:1348902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Situs ambiguus	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606172	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:7240710	20190315	OMIM			
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 13 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 13, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532|PMID:31213628|PMID:38432987|PMID:9536098
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1606172	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:19944400|PMID:19944405|PMID:25741868|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:1909	melanoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:19944400|PMID:19944405|PMID:25741868|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laterality sequence	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:24033266|PMID:24307375|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:31213628|PMID:34215651|PMID:34556108|PMID:34768622|PMID:9536098
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:1826	epilepsy		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056612	TXK	TXK tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056612	TXK	TXK tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056612	TXK	TXK tyrosine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056612	TXK	TXK tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056612	TXK	TXK tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:1115	sarcoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:3070	high grade glioma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:1909	melanoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69316	D	RGD:9068941	20200609	RGD			PMID:20846698|REF_RGD_ID:6483014
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736205	D	RGD:9068941	20200609	RGD			PMID:19487308|REF_RGD_ID:10045878
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736205	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus:	PMID:24887203|REF_RGD_ID:10045934
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:736204	D	RGD:9068941	20200609	RGD		protein:decreased expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
12056669	IRS2	insulin receptor substrate 2	gene	DOID:11476	osteoporosis		ISO	RGD:69316	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle:	PMID:22820932|REF_RGD_ID:7207063
12056669	IRS2	insulin receptor substrate 2	gene	DOID:3275	thymoma		ISO	RGD:736204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:4195	hyperglycemia		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20028942|PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:4362	cervical cancer		ISO	RGD:736204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16127164
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736204	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney tubule:	PMID:23617393|REF_RGD_ID:7257702
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:69316	D	RGD:9068941	20200609	RGD			PMID:20720385|REF_RGD_ID:7257699
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69316	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:heart	PMID:20555424|REF_RGD_ID:4142788
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:736205	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736204	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:G1057D	PMID:15811564|REF_RGD_ID:1625025
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736204	D	RGD:7240710	20180130	OMIM			
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IRS2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1320343	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:23583980
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0070050	neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	PMID:25741868
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0080600	COVID-19		ISO	RGD:1320343	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease COVID-19	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320343	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:1909	melanoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1320343	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7671167 (human)	PMID:25928290|REF_RGD_ID:11552597
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:9068941	20260207	RGD		DNA:SNP: :rs7671167	PMID:23299987|REF_RGD_ID:632518348
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs17014601	PMID:29872291|REF_RGD_ID:645123325
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:9068941	20260423	RGD		DNA:SNPs: :rs1903003, rs2869967, rs7671167	PMID:26310313|REF_RGD_ID:11535254
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3275	thymoma		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320343	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:9256	colorectal cancer		ISO	RGD:1320343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605400	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056718	ZNF592	zinc finger protein 592	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome 1	PMID:25741868
12056718	ZNF592	zinc finger protein 592	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20531441
12056718	ZNF592	zinc finger protein 592	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318632	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12056718	ZNF592	zinc finger protein 592	gene	DOID:10534	stomach cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056718	ZNF592	zinc finger protein 592	gene	DOID:1324	lung cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056718	ZNF592	zinc finger protein 592	gene	DOID:1909	melanoma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056718	ZNF592	zinc finger protein 592	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056718	ZNF592	zinc finger protein 592	gene	DOID:3070	high grade glioma		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12056718	ZNF592	zinc finger protein 592	gene	DOID:3312	bipolar disorder		ISO	RGD:1318632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12056718	ZNF592	zinc finger protein 592	gene	DOID:4362	cervical cancer		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056718	ZNF592	zinc finger protein 592	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318632	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056718	ZNF592	zinc finger protein 592	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12056718	ZNF592	zinc finger protein 592	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12056718	ZNF592	zinc finger protein 592	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056718	ZNF592	zinc finger protein 592	gene	DOID:9007573	Flatfoot		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes valgus	PMID:25741868
12056718	ZNF592	zinc finger protein 592	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12056718	ZNF592	zinc finger protein 592	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056718	ZNF592	zinc finger protein 592	gene	DOID:9884	muscular dystrophy		ISO	RGD:1318632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12056737	LGI2	leucine rich repeat LGI family member 2	gene	DOID:1826	epilepsy		IAGP		D	RGD:12801476	20250113	OMIA		Epilepsy, benign familial juvenile, LGI2-related	PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:26931499|PMID:25945683|PMID:37582787|PMID:38003185|PMID:39651629
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:62119	D	RGD:9068941	20250724	MouseDO		OMIM:607872	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1354203	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: KCNAB2-related epilepsy	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1354203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0060923	otosclerosis 4		ISO	RGD:1343423	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Otosclerosis 4	PMID:25741868
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1343423	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:1909	melanoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1343423	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:3275	thymoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1343423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056828	RUSF1	RUS family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056828	RUSF1	RUS family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056828	RUSF1	RUS family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056828	RUSF1	RUS family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12056828	RUSF1	RUS family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056828	RUSF1	RUS family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056828	RUSF1	RUS family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12056828	RUSF1	RUS family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056828	RUSF1	RUS family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056828	RUSF1	RUS family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056828	RUSF1	RUS family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056828	RUSF1	RUS family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056828	RUSF1	RUS family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056828	RUSF1	RUS family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12056852	MED6	mediator complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056852	MED6	mediator complex subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056852	MED6	mediator complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056852	MED6	mediator complex subunit 6	gene	DOID:3070	high grade glioma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12056852	MED6	mediator complex subunit 6	gene	DOID:3275	thymoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056852	MED6	mediator complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056852	MED6	mediator complex subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12056852	MED6	mediator complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056852	MED6	mediator complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056852	MED6	mediator complex subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733651	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37156999
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:1115	sarcoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:3275	thymoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0070762	primary ciliary dyskinesia 49		ISO	RGD:1604563	D	RGD:7240710	20230201	OMIM			
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0070762	primary ciliary dyskinesia 49		ISO	RGD:1604563	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CFAP74-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus	PMID:25741868|PMID:36047773
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:1324	lung cancer		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:3275	thymoma		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:4362	cervical cancer		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:5041	esophageal cancer		ISO	RGD:1604563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12056942	GPR22	G protein-coupled receptor 22	gene	DOID:9351	diabetes mellitus		ISO	RGD:1310848	D	RGD:9068941	20251009	RGD		mRNA:altered expression:right ventricle,aorta, kidney,brain	PMID:24937127|REF_RGD_ID:628374356
12056953	DAPL1	death associated protein like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056953	DAPL1	death associated protein like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1602074	D	RGD:9068941	20200609	RGD		mRNA:altered expression:PMN cell (human)	PMID:20136355|REF_RGD_ID:5133255
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:7240710	20241218	OMIM			
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 10, autosomal recessive	PMID:25741868
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:1909	melanoma		ISO	RGD:1321657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:1324	lung cancer		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057020	SLC25A51	solute carrier family 25 member 51	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:1909	melanoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057050	MIR34A	microRNA mir-34a	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma	PMID:27077736|REF_RGD_ID:11533145
12057050	MIR34A	microRNA mir-34a	gene	DOID:10603	glucose intolerance		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1343452	D	RGD:9068941	20221013	RGD		miRNA:increased expression:blood plasma (human)	PMID:23051042|REF_RGD_ID:155582214
12057050	MIR34A	microRNA mir-34a	gene	DOID:114	heart disease		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25448438
12057050	MIR34A	microRNA mir-34a	gene	DOID:2030	anxiety disorder		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27424985
12057050	MIR34A	microRNA mir-34a	gene	DOID:6000	congestive heart failure		ISO	RGD:2325584	D	RGD:9068941	20200609	RGD		RNA:increased expression:heart	PMID:29373037|REF_RGD_ID:26923905
12057050	MIR34A	microRNA mir-34a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver	PMID:29328457|REF_RGD_ID:14694836
12057050	MIR34A	microRNA mir-34a	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:25217526|REF_RGD_ID:14694835
12057050	MIR34A	microRNA mir-34a	gene	DOID:687	hepatoblastoma	severity	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver	PMID:27046304|REF_RGD_ID:14695006
12057050	MIR34A	microRNA mir-34a	gene	DOID:8398	osteoarthritis		ISO	RGD:1343452	D	RGD:9068941	20220520	RGD		mRNA:increased expression:knee, hip (human)	PMID:30048987|REF_RGD_ID:152177909
12057050	MIR34A	microRNA mir-34a	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:2325584	D	RGD:9068941	20220520	RGD			PMID:30048987|REF_RGD_ID:152177909
12057050	MIR34A	microRNA mir-34a	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12057050	MIR34A	microRNA mir-34a	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2325584	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver	PMID:28963950|REF_RGD_ID:14695005
12057050	MIR34A	microRNA mir-34a	gene	DOID:9005372	Inflammation		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12057050	MIR34A	microRNA mir-34a	gene	DOID:9007482	Bone Metastasis	susceptibility	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;miRNA:decreased expression:serum, bone	PMID:27893432|REF_RGD_ID:14694837
12057050	MIR34A	microRNA mir-34a	gene	DOID:9256	colorectal cancer		ISO	RGD:1343452	D	RGD:9068941	20220721	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12057050	MIR34A	microRNA mir-34a	gene	DOID:9452	steatotic liver disease		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:9970	obesity		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057110	NXPH2	neurexophilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057110	NXPH2	neurexophilin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057110	NXPH2	neurexophilin 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1344701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0002116	pterygium	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19420332|REF_RGD_ID:8657043
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16681691|REF_RGD_ID:1581215
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0051061	stroke		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:19840223|REF_RGD_ID:2325713
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0051061	stroke		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16599837|REF_RGD_ID:1582617
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:18194448|REF_RGD_ID:8547896
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080001	bone disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080162	lupus nephritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22479529
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23615040|REF_RGD_ID:13204802
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080600	COVID-19		ISO	RGD:730821	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:730822	D	RGD:9068941	20230223	RGD		Apolipoprotein E knockout	PMID:33403385|REF_RGD_ID:156420156
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080746	Sweet syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080933	immunoglobulin light chain amyloidosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomeruli (human)	PMID:16164636|REF_RGD_ID:7207084
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (rat)	PMID:11590325|REF_RGD_ID:7207204
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:621316	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0111563	Sturge-Weber syndrome	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:23720035|REF_RGD_ID:13204823
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10126	keratoconus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:22580443|REF_RGD_ID:8657033
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10159	osteonecrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18329693|REF_RGD_ID:2290389
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:23185624|REF_RGD_ID:13204814
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1059	intellectual disability		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:placenta	PMID:17083831|REF_RGD_ID:2290399
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet	PMID:21875409|REF_RGD_ID:10059680
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1073	renal hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:12923405|REF_RGD_ID:1302333
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17977875|REF_RGD_ID:2290351
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836702
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16840178|REF_RGD_ID:1582612
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach	PMID:15375341|REF_RGD_ID:10043177
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood vessel	PMID:17569872|REF_RGD_ID:2290352
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:9724118|REF_RGD_ID:1582590
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16961137|REF_RGD_ID:1582646
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10964	cholesteatoma of middle ear	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15620146|REF_RGD_ID:8547870
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30548095
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17466450|REF_RGD_ID:2290395
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:21910062|REF_RGD_ID:9999396
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11830	myopia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds, introns:multiple	PMID:20484597|REF_RGD_ID:8549731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18585501|REF_RGD_ID:5130889
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:20056896|REF_RGD_ID:8552731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:19765107|REF_RGD_ID:8657058
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:127	leiomyoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:17943549|REF_RGD_ID:2290362
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid	PMID:17254480|REF_RGD_ID:5130726
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11034943|REF_RGD_ID:1582586
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16037568|REF_RGD_ID:1582576
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13001	carotid stenosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16147977|REF_RGD_ID:1582575
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:kidney	PMID:19357873|REF_RGD_ID:2325738
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13241	Behcet's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17949555|REF_RGD_ID:8657044
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13375	temporal arteritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:temporal artery	PMID:17502363|REF_RGD_ID:8657040
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21274875|REF_RGD_ID:8552699
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:20621845|REF_RGD_ID:5129489
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16159824
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16159824|REF_RGD_ID:1582608
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:18178469|REF_RGD_ID:13204796
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24966898|REF_RGD_ID:13207311
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1727	retinal vein occlusion		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23791966|REF_RGD_ID:8657048
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa	PMID:21624249|REF_RGD_ID:8657057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:7635566|REF_RGD_ID:2325766
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:pancreatic juice	PMID:11961486|REF_RGD_ID:2325752
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:182	calcinosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515|PMID:21193197
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:730822	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:20370796|REF_RGD_ID:8657031
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:brain	PMID:11592852|REF_RGD_ID:8547930
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24828425|REF_RGD_ID:8657086
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2316	brain ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15963646|REF_RGD_ID:1582577
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730821	D	RGD:9068941	20220826	RGD		protein:increased expression:colon (human)	PMID:22419013|REF_RGD_ID:153344572
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:255	hemangioma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19821096|REF_RGD_ID:8657063
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2615	papilloma	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Skin Neoplasms	PMID:20619141|REF_RGD_ID:8657035
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16901349|REF_RGD_ID:2290349
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:multiple	PMID:20541540|REF_RGD_ID:8657064
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17786346|REF_RGD_ID:5130203
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:289	endometriosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:20056200|REF_RGD_ID:2325695
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598420
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (human)	PMID:7616276|REF_RGD_ID:7207145
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19292920|REF_RGD_ID:8657080
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome	PMID:10464559|REF_RGD_ID:8657078
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:326	ischemia		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:12842442|REF_RGD_ID:1582562
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased expression:skin of body, spinal cord	PMID:20441996|REF_RGD_ID:13204793
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebrospinal fluid (human)	PMID:19796283|REF_RGD_ID:7207054
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3347	osteosarcoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25605016
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3407	carotid artery disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16339461|REF_RGD_ID:1582626
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3526	cerebral infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16846501
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17377415|REF_RGD_ID:2325746
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20220526	RGD		protein:increased activity: esophagus	PMID:24789592|REF_RGD_ID:152600903
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21468558
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:lung	PMID:17143501|REF_RGD_ID:5130739
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4079	heart valve disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:24093773|REF_RGD_ID:13204818
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23536957|REF_RGD_ID:8657041
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)	PMID:18359774|REF_RGD_ID:8657039
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:18035688|REF_RGD_ID:2290358
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17572184|REF_RGD_ID:2290359
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:15213623|REF_RGD_ID:2324667
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:19629755|REF_RGD_ID:2325769
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341|PMID:26396155
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23411180|REF_RGD_ID:8657103
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:520	aortic disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5517	stomach carcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:stomach	PMID:20434464|REF_RGD_ID:2325777
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730821	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28595731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:576	proteinuria	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD		associated with Experimental Diabetes Mellitus;	PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16310260|PMID:24358288
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle, plasma	PMID:20606426|REF_RGD_ID:8694112
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16169329|REF_RGD_ID:1582574
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6195	conjunctivitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23378729|REF_RGD_ID:8657047
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:630	genetic disease		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20084675
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16872482
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11457749|REF_RGD_ID:1582585
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16458924|REF_RGD_ID:1582621
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:783	end stage renal disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Hypertension; protein:increased expression:plasma (human)	PMID:19886850|REF_RGD_ID:7207051
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:820	myocarditis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16533694|REF_RGD_ID:1582352
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:824	periodontitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: periodontal ligament	PMID:16845949|REF_RGD_ID:2325939
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial fluid (human)	PMID:15194590|REF_RGD_ID:7207131
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:869	cholesteatoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19484988|REF_RGD_ID:8657059
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8725	vascular dementia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16385583|REF_RGD_ID:1582624
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:18251742|REF_RGD_ID:8657075
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12714657|REF_RGD_ID:1582582
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18552985|REF_RGD_ID:8547849
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000011	Gallbladder Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24436993|REF_RGD_ID:8657106
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Ductal, Breast	PMID:23280016|REF_RGD_ID:8655998
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Tongue Neoplasms	PMID:23107277|REF_RGD_ID:8547824
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23323009|REF_RGD_ID:13207328
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24419461|REF_RGD_ID:8657111
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:22475348|REF_RGD_ID:8657107
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000784	Fibrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:20108118|REF_RGD_ID:2325790
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:621316	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:730822	D	RGD:9068941	20210611	RGD		mRNA:increased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Animal;protein:increased expression:brain	PMID:16158251|REF_RGD_ID:8547884
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Gallbladder Neoplasms; protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pancreatic cancer; protein:increased expression, increased activity:pancreas	PMID:12173379|REF_RGD_ID:2325749
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Atherosclerosis	PMID:24820783|REF_RGD_ID:13207324
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:25314292|REF_RGD_ID:13207327
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:21666238|REF_RGD_ID:8657062
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa	PMID:23064462|REF_RGD_ID:8549735
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21305560|REF_RGD_ID:8656001
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095483|PMID:25380136
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19528495|REF_RGD_ID:2325736
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:liver	PMID:19539802|REF_RGD_ID:2325734
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23384615|REF_RGD_ID:13204971
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19726059|REF_RGD_ID:2325718
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17367869|REF_RGD_ID:13204803
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002484	Maxillary Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17964422
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23344254|REF_RGD_ID:13207403
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002522	Embolism		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15920147|REF_RGD_ID:1582578
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10698078
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-735C>T	PMID:18424416|REF_RGD_ID:2298519
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19922364|REF_RGD_ID:2325703
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:liver, spleen (mouse)	PMID:15259001|REF_RGD_ID:7207133
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:22554030|REF_RGD_ID:8656000
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003230	Graft Occlusion, Vascular		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse)	PMID:20598569|REF_RGD_ID:7207202
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003234	Hypertensive Nephropathy	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa:	PMID:19786210|REF_RGD_ID:5130872
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:urine (human)	PMID:17898039|REF_RGD_ID:7207083
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:brain	PMID:15364410|REF_RGD_ID:8547868
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16327176|REF_RGD_ID:1582627
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004080	Aortic Rupture		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23479197|REF_RGD_ID:8657110
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730821	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23040778|REF_RGD_ID:13207316
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Renovascular	PMID:23073243|REF_RGD_ID:8657108
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004657	Weight Gain		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322899
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:syncytiotrophoblast cell	PMID:16884384|REF_RGD_ID:2290363
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16934674|REF_RGD_ID:1582595
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12452868|REF_RGD_ID:1582583
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17607721
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:19725228|REF_RGD_ID:2325823
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28574600
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23359979|REF_RGD_ID:8657038
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005372	Inflammation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24795235
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:ileal vein	PMID:17398390|REF_RGD_ID:1642040
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23924957|REF_RGD_ID:13204800
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21963884
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006081	Osteolysis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		OMIM:277950, Winchester syndrome	PMID:16542393|REF_RGD_ID:1601416
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary; protein:increased expression:heart	PMID:17913382|REF_RGD_ID:5130174
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:9327785|REF_RGD_ID:8547910
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006309	Mandibular Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:7240710	20180130	OMIM			
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MMP2-related condition | ClinVar Annotator: match by term: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY | ClinVar Annotator: match by term: Multicentric osteolysis nodulosis arthropathy spectrum | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy	PMID:17576681|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25741868|PMID:27182040|PMID:28492532|PMID:9536098
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (rat)	PMID:9175058|REF_RGD_ID:4144855
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007480	Hyperoxia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased activity:lung	PMID:15128910|REF_RGD_ID:8547972
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007590	Gouty Arthritis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:14687896|REF_RGD_ID:8547877
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17009991|REF_RGD_ID:2290360
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16699069|REF_RGD_ID:1582614
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23889688|REF_RGD_ID:8657084
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007871	Malignant Pleural Effusions		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pleurisy; protein:decreased activity:pleura	PMID:17611666|REF_RGD_ID:5130711
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin (human)	PMID:20708474|REF_RGD_ID:7207047
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007971	Nose Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16178123
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23149858|REF_RGD_ID:8657112
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23559867|REF_RGD_ID:8547885
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17400654|PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:18507500
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17851253|REF_RGD_ID:8655999
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15538048|REF_RGD_ID:8547818
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16949931|REF_RGD_ID:2290401
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21091666
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21091666|REF_RGD_ID:8657030
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:730821	D	RGD:9068941	20220421	RGD		human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9282	ocular hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye	PMID:19575923|REF_RGD_ID:2325732
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:17320450|REF_RGD_ID:7207195
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16304337|REF_RGD_ID:1582630
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity:lung	PMID:19897563|REF_RGD_ID:4892307
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20213226
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:0060180	colitis		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:10534	stomach cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:1115	sarcoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1314700	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:1324	lung cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:7240710	20180130	OMIM			
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 1 | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia | ClinVar Annotator: match by term: TTC7A-related condition	PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24292712|PMID:24417819|PMID:24931897|PMID:25174867|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:29174094|PMID:30455981|PMID:31342292|PMID:31616743|PMID:32084423|PMID:32888943|PMID:34930662|PMID:34975848|PMID:34985046|PMID:35627206|PMID:39495812|PMID:39873864|PMID:9536098
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:1909	melanoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:3070	high grade glioma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:3275	thymoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:4362	cervical cancer		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314700	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:630	genetic disease		ISO	RGD:1314700	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:8893	psoriasis		ISO	RGD:1314701	D	RGD:9068941	20220825	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1314700	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25174867|PMID:25741868|PMID:28492532|PMID:30455981|PMID:34930662|PMID:34985046|PMID:39495812
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1314700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:25741868|PMID:26938784
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9009203	Gastrointestinal defects and immunodeficiency syndrome		ISO	RGD:1314700	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	PMID:23423984|PMID:23830146|PMID:24417819|PMID:25174867|PMID:25741868|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:31616743|PMID:32084423|PMID:32888943
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0080195	Marinesco-Sjogren syndrome		ISO	RGD:1605350	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARINESCO-SJOGREN SYNDROME | ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome	PMID:16199547|PMID:16282977|PMID:16282978|PMID:17576681|PMID:18285827|PMID:18395226|PMID:19471582|PMID:21873089|PMID:23829326|PMID:24176978|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:34852264|PMID:9536098
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0080600	COVID-19		ISO	RGD:1605350	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:1115	sarcoma		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:1909	melanoma		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1605350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:630	genetic disease		ISO	RGD:1605350	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:83	cataract		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:32581362
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1605350	D	RGD:7240710	20180130	OMIM			
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:0070682	congenital hydrocephalus 1		ISO	RGD:1353389	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1	PMID:25741868
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:1115	sarcoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0060058	lymphoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0080600	COVID-19		ISO	RGD:1344771	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1344771	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344771	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:7240710	20240207	OMIM			
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASCC3-associated disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81	PMID:25741868|PMID:35047834
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:0060058	lymphoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:0080600	COVID-19		ISO	RGD:1314075	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057288	TFDP2	transcription factor Dp-2	gene	DOID:10534	stomach cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:1115	sarcoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1314075	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12057288	TFDP2	transcription factor Dp-2	gene	DOID:4362	cervical cancer		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314075	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12057288	TFDP2	transcription factor Dp-2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:10907	microcephaly		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:1909	melanoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:4362	cervical cancer		ISO	RGD:732756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:630	genetic disease		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:7240710	20220601	OMIM			
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PADI3-related condition | ClinVar Annotator: match by term: UNCOMBABLE HAIR SYNDROME 1 | ClinVar Annotator: match by term: Uncombable hair syndrome 1	PMID:25741868|PMID:27866708|PMID:28492532|PMID:35279260|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:732756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uncombable hair syndrome	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9007442	Central Centrifugal Cicatricial Alopecia		ISO	RGD:732756	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia	PMID:25741868|PMID:30763140
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9007573	Flatfoot		ISO	RGD:732756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:27866708|PMID:36044230|PMID:36541401
12057336	FAM134B	reticulophagy regulator 1	gene	DOID:9003855	Vesicoureteral Reflux 5		IAGP		D	RGD:12801476	20250113	OMIA		Neuropathy, sensory, RETREG1-related	PMID:15971901|PMID:16266014|PMID:27527794|PMID:30307654|PMID:30955094|PMID:23123885|PMID:34387380|PMID:6295050|PMID:38003185|PMID:39377488
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory	PMID:19838196|PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:7240710	20180130	OMIM			
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type IIB | ClinVar Annotator: match by term: RETREG1-related condition	PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31475481|PMID:9536098
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA	PMID:19838196|PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type II	PMID:19838196|PMID:25741868
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:19838196|PMID:25741868
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:327	syringomyelia		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Morvan disease	PMID:19838196|PMID:25741868
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31475481
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1601869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1	PMID:25741868|PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0061299	retinitis pigmentosa 101		ISO	RGD:1345435	D	RGD:7240710	20260506	OMIM			
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0061299	retinitis pigmentosa 101		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 101	PMID:17576681|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31741823|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:36909829|PMID:36912596|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:7240710	20180130	OMIM			
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Batten Disease | ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 3 | ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 3, PROTRACTED | ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: CLN3-related disorder | ClinVar Annotator: match by term: Juvenile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3	PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16087292|PMID:16199547|PMID:16251196|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26308342|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29053603|PMID:29140481|PMID:29343940|PMID:29392585|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31273342|PMID:31568712|PMID:31690835|PMID:31741823|PMID:31926949|PMID:32154056|PMID:32412666|PMID:32441891|PMID:32581362|PMID:3268535|PMID:32685355|PMID:33073192|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34662339|PMID:35231114|PMID:35716526|PMID:35929194|PMID:36011402|PMID:36034292|PMID:36071899|PMID:36139381|PMID:36576693|PMID:36819107|PMID:36909829|PMID:36912596|PMID:37338096|PMID:38540785|PMID:39400524|PMID:7553855|PMID:9311735|PMID:9536098|PMID:9618513|PMID:9932957
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:7553855|PMID:9311735|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28542676|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1059	intellectual disability		ISO	RGD:1345435	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:33507216
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1115	sarcoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:12849	autistic disorder		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1324	lung cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: neuronal ceroid lipofuscinosis	PMID:10332042|PMID:12374761|PMID:15818814|PMID:16199547|PMID:17576681|PMID:17947292|PMID:19132115|PMID:20187884|PMID:21228398|PMID:21990111|PMID:22013180|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23919525|PMID:24154662|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26766544|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29140481|PMID:31273342|PMID:31568712|PMID:32154056|PMID:32412666|PMID:32441891|PMID:32631363|PMID:33507216|PMID:34849271|PMID:36011402|PMID:36819107|PMID:38219857|PMID:38347443|PMID:7553855|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1826	epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1909	melanoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:3275	thymoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:5041	esophageal cancer		ISO	RGD:1345435	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:630	genetic disease		ISO	RGD:1345435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23142271|PMID:25741868|PMID:26467025|PMID:26544041|PMID:27843123|PMID:28492532|PMID:29140481|PMID:31273342|PMID:32412666|PMID:9311735
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10332042|PMID:12796825|PMID:17947292|PMID:19132115|PMID:19135632|PMID:20187884|PMID:21228398|PMID:21359416|PMID:21499717|PMID:23539563|PMID:23860047|PMID:23919525|PMID:24979587|PMID:25741868|PMID:26308342|PMID:27486012|PMID:28492532|PMID:28542676|PMID:30480032|PMID:30548430|PMID:31568712|PMID:32154056|PMID:33507216|PMID:33851411|PMID:37039534|PMID:7553855|PMID:9311735|PMID:9392580
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000343	Vision Disorders		ISO	RGD:1345435	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:24804307
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000918	Disease Progression		ISO	RGD:1345435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:10534	stomach cancer		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:1115	sarcoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:1324	lung cancer		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:13501	Moebius syndrome		ISO	RGD:1349308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:3275	thymoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:5041	esophageal cancer		ISO	RGD:1349308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057390	PBX3	PBX homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316248	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057390	PBX3	PBX homeobox 3	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1316248	D	RGD:8554872	20230523	ClinVar		ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY	
12057390	PBX3	PBX homeobox 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057390	PBX3	PBX homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057390	PBX3	PBX homeobox 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316248	D	RGD:9068941	20220902	RGD		RNA:increased expression:esophagus squamous epithelium (human)	PMID:32449803|REF_RGD_ID:153345544
12057390	PBX3	PBX homeobox 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057390	PBX3	PBX homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057390	PBX3	PBX homeobox 3	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1316248	D	RGD:9068941	20221027	RGD		DNA:missense mutation:CDS:pAla136Val (human)	PMID:22426282|REF_RGD_ID:155630639
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345199	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly		ISO	RGD:1345199	D	RGD:7240710	20180130	OMIM			
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly		ISO	RGD:1345199	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: SPASTIC TETRAPLEGIA, THIN CORPUS CALLOSUM, AND PROGRESSIVE MICROCEPHALY | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27848944|PMID:28492532|PMID:30125339
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:1059	intellectual disability		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:10907	microcephaly		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26041762|PMID:28327206|PMID:2837306|PMID:28492532|PMID:33528536|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:12835	quadriplegia		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:12849	autistic disorder		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:1826	epilepsy		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:630	genetic disease		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26041762|PMID:27193218|PMID:28327206|PMID:2837306|PMID:28492532|PMID:33528536|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:26041762|PMID:28327206|PMID:2837306|PMID:28492532|PMID:33528536|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26041762|PMID:28327206|PMID:2837306|PMID:28492532|PMID:33528536|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26041762|PMID:28327206|PMID:2837306|PMID:28492532|PMID:33528536|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318965	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1318965	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1318965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:1909	melanoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057479	GTF3C6	general transcription factor IIIC subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:0060058	lymphoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:1324	lung cancer		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9002801	Recurrence		ISO	RGD:1316973	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316973	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057518	SSUH2	ssu-2 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057518	SSUH2	ssu-2 homolog	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532
12057518	SSUH2	ssu-2 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057518	SSUH2	ssu-2 homolog	gene	DOID:0070706	dentin dysplasia type IC		ISO	RGD:1603044	D	RGD:7240710	20260603	OMIM			
12057518	SSUH2	ssu-2 homolog	gene	DOID:0070706	dentin dysplasia type IC		ISO	RGD:1603044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE IC	
12057518	SSUH2	ssu-2 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057518	SSUH2	ssu-2 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057518	SSUH2	ssu-2 homolog	gene	DOID:2843	long QT syndrome		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098
12057518	SSUH2	ssu-2 homolog	gene	DOID:701	dentin dysplasia		ISO	RGD:1557646	D	RGD:9068941	20220825	MouseDO		OMIM:125400 | OMIM:125420	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0050562	West syndrome		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:28192369|PMID:31130284
12057537	UNC13A	unc-13 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0051062	ischemic stroke		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	
12057537	UNC13A	unc-13 homolog A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1345956	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:0061252	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech		ISO	RGD:1345956	D	RGD:7240710	20260408	OMIM			
12057537	UNC13A	unc-13 homolog A	gene	DOID:0061252	neurodevelopmental disorder with hypotonia, epilepsy, and absent speech		ISO	RGD:1345956	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, EPILEPSY, AND ABSENT SPEECH | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:0061253	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures		ISO	RGD:1345956	D	RGD:7240710	20260408	OMIM			
12057537	UNC13A	unc-13 homolog A	gene	DOID:0061253	neurodevelopmental disorder with speech delay, movement abnormalities, and seizures		ISO	RGD:1345956	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY, MOVEMENT ABNORMALITIES, AND SEIZURES	PMID:25741868|PMID:28192369
12057537	UNC13A	unc-13 homolog A	gene	DOID:0061254	intellectual developmental disorder with seizures and dysmorphic facies		ISO	RGD:1345956	D	RGD:7240710	20260408	OMIM			
12057537	UNC13A	unc-13 homolog A	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
12057537	UNC13A	unc-13 homolog A	gene	DOID:1059	intellectual disability		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057537	UNC13A	unc-13 homolog A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12057537	UNC13A	unc-13 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:12849	autistic disorder		ISO	RGD:1345956	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
12057537	UNC13A	unc-13 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057537	UNC13A	unc-13 homolog A	gene	DOID:1596	depressive disorder		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12057537	UNC13A	unc-13 homolog A	gene	DOID:1826	epilepsy		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12057537	UNC13A	unc-13 homolog A	gene	DOID:2030	anxiety disorder		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12057537	UNC13A	unc-13 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:3312	bipolar disorder		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
12057537	UNC13A	unc-13 homolog A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:23141412|PMID:25741868|PMID:27790088
12057537	UNC13A	unc-13 homolog A	gene	DOID:332	amyotrophic lateral sclerosis	no_association	ISO	RGD:1345956	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs12608932 (human)	PMID:20385924|REF_RGD_ID:5686382
12057537	UNC13A	unc-13 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057537	UNC13A	unc-13 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057537	UNC13A	unc-13 homolog A	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulbar palsy	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:9001722	Dysarthria		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:9001745	Fasciculation		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:9002079	Paresis		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	
12057537	UNC13A	unc-13 homolog A	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619722	D	RGD:9068941	20200609	RGD			PMID:18787382|REF_RGD_ID:5686390
12057537	UNC13A	unc-13 homolog A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345956	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28192369
12057537	UNC13A	unc-13 homolog A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057537	UNC13A	unc-13 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057537	UNC13A	unc-13 homolog A	gene	DOID:9840	esotropia		ISO	RGD:1345956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
12057581	KLHL1	kelch like family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057581	KLHL1	kelch like family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057581	KLHL1	kelch like family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057581	KLHL1	kelch like family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057581	KLHL1	kelch like family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057581	KLHL1	kelch like family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057581	KLHL1	kelch like family member 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12057581	KLHL1	kelch like family member 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12057595	LOC486692	NKG2-A/NKG2-B type II integral membrane protein-like	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1349370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
12057595	LOC486692	NKG2-A/NKG2-B type II integral membrane protein-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057610	ANKRD2	ankyrin repeat domain 2	gene	DOID:3275	thymoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057610	ANKRD2	ankyrin repeat domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057610	ANKRD2	ankyrin repeat domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057610	ANKRD2	ankyrin repeat domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:3312	bipolar disorder		ISO	RGD:1319435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057635	TADA2B	transcriptional adaptor 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2979550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057635	TADA2B	transcriptional adaptor 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2979550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:1909	melanoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604048	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057641	SEL1L3	SEL1L family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604048	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:12336	male infertility		ISO	RGD:1344836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23818598
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1344836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:1115	sarcoma		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606780	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy	PMID:28492532
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		mRNA, protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		human cells in mouse model	PMID:33833989|REF_RGD_ID:153344568
12057711	KLHDC1	kelch domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057711	KLHDC1	kelch domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057711	KLHDC1	kelch domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057711	KLHDC1	kelch domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057711	KLHDC1	kelch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057711	KLHDC1	kelch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1605734	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:12336	male infertility		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:2018	hyperinsulinism		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:2519	testicular disease		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:9001981	Weight Loss		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:10534	stomach cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:1115	sarcoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:1909	melanoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:3070	high grade glioma		ISO	RGD:1319346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26829751
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:3213	demyelinating disease		ISO	RGD:1319346	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16245024
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:4362	cervical cancer		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:5041	esophageal cancer		ISO	RGD:1319346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:6039	uveal melanoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1584886	D	RGD:9068941	20200609	RGD			PMID:22740327|REF_RGD_ID:10045997
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:0080600	COVID-19		ISO	RGD:1352039	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1352039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20146260
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:2394	ovarian cancer		ISO	RGD:1352039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12057803	ARSB	arylsulfatase B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17458871|PMID:24243352|PMID:25741868|PMID:26609033|PMID:27826022|PMID:28492532|PMID:36873088
12057803	ARSB	arylsulfatase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057803	ARSB	arylsulfatase B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737370	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12057803	ARSB	arylsulfatase B	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		IAGP		D	RGD:12801476	20250113	OMIA		Mucopolysaccharidosis VI	PMID:8558492|PMID:22329490|PMID:23121383|PMID:25750448|PMID:29157190|PMID:32219101|PMID:32985704|PMID:38003185
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:737370	D	RGD:7240710	20180130	OMIM			
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARSB DEFICIENCY | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE VI | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE VI, INTERMEDIATE | ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE VI, SEVERE | ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis type VI	PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17034777|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:20385007|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25060283|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26586959|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28831385|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:29620724|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32021598|PMID:32075597|PMID:33144682|PMID:33147747|PMID:33163362|PMID:33209960|PMID:33673364|PMID:33985463|PMID:34435740|PMID:34573925|PMID:34708937|PMID:34813777|PMID:34853893|PMID:35005816|PMID:35118118|PMID:35614200|PMID:35768874|PMID:36077388|PMID:36213247|PMID:36561048|PMID:36795445|PMID:36873088|PMID:36964972|PMID:37811045|PMID:38730490|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	susceptibility	ISO	RGD:2158	D	RGD:9068941	20200609	RGD			PMID:8575749|REF_RGD_ID:631738
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	susceptibility	ISO	RGD:737370	D	RGD:9068941	20200609	RGD			PMID:1550123|REF_RGD_ID:1599228
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	treatment	ISO	RGD:2158	D	RGD:9068941	20201001	RGD			PMID:21887218|REF_RGD_ID:39131283
12057803	ARSB	arylsulfatase B	gene	DOID:1324	lung cancer		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057803	ARSB	arylsulfatase B	gene	DOID:1909	melanoma		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057803	ARSB	arylsulfatase B	gene	DOID:2394	ovarian cancer		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12057803	ARSB	arylsulfatase B	gene	DOID:4667	kyphosis		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:10923267|PMID:17458871|PMID:17672828|PMID:20143913|PMID:22133300|PMID:24053568|PMID:24875751|PMID:25654180|PMID:25741868|PMID:28492532
12057803	ARSB	arylsulfatase B	gene	DOID:5419	schizophrenia		ISO	RGD:737370	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12057803	ARSB	arylsulfatase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057803	ARSB	arylsulfatase B	gene	DOID:630	genetic disease		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12057803	ARSB	arylsulfatase B	gene	DOID:9005369	Hepatomegaly		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:17458871|PMID:24243352|PMID:25741868|PMID:26609033|PMID:27826022|PMID:28492532|PMID:36873088
12057803	ARSB	arylsulfatase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057803	ARSB	arylsulfatase B	gene	DOID:9007661	Dwarfism		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10923267|PMID:17458871|PMID:17672828|PMID:20143913|PMID:22133300|PMID:24053568|PMID:24875751|PMID:25654180|PMID:25741868|PMID:28492532
12057803	ARSB	arylsulfatase B	gene	DOID:9008606	Corneal Opacity		ISO	RGD:737370	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:17458871|PMID:24243352|PMID:25741868|PMID:26609033|PMID:27826022|PMID:28492532|PMID:36873088
12057803	ARSB	arylsulfatase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:10534	stomach cancer		ISO	RGD:1602409	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:10907	microcephaly		ISO	RGD:1602409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:7240710	20180130	OMIM			
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: N-acetylaspartate deficiency	
12057846	CDH4	cadherin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057846	CDH4	cadherin 4	gene	DOID:1115	sarcoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12057846	CDH4	cadherin 4	gene	DOID:1324	lung cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12057846	CDH4	cadherin 4	gene	DOID:1826	epilepsy		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12057846	CDH4	cadherin 4	gene	DOID:1909	melanoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12057846	CDH4	cadherin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057846	CDH4	cadherin 4	gene	DOID:3275	thymoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057846	CDH4	cadherin 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12057846	CDH4	cadherin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057846	CDH4	cadherin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057846	CDH4	cadherin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1343938	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057846	CDH4	cadherin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057846	CDH4	cadherin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12057846	CDH4	cadherin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343938	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057846	CDH4	cadherin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057846	CDH4	cadherin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder	
12057846	CDH4	cadherin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057846	CDH4	cadherin 4	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:29706646
12057846	CDH4	cadherin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12057846	CDH4	cadherin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057846	CDH4	cadherin 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1343938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12057871	MIR10B	microRNA mir-10b	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25758243
12057871	MIR10B	microRNA mir-10b	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24447120
12057871	MIR10B	microRNA mir-10b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12057871	MIR10B	microRNA mir-10b	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12057871	MIR10B	microRNA mir-10b	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20099276
12057871	MIR10B	microRNA mir-10b	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12057871	MIR10B	microRNA mir-10b	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:61834	D	RGD:9068941	20250619	RGD		mRNA:increased expression:nucleus accumbens, mesencephalon (rat)	PMID:30618609|REF_RGD_ID:616363157
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731891	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:61834	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:62125	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:7240710	20190626	OMIM			
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FDFT1-related condition | ClinVar Annotator: match by term: SQUALENE SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: Squalene synthase deficiency | ClinVar Annotator: match by term: squalene synthase deficiency	PMID:25741868|PMID:28492532|PMID:29909962
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9505	cannabis abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057961	GAS2	growth arrest specific 2	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nonsyndromic hearing loss	
12057961	GAS2	growth arrest specific 2	gene	DOID:0061124	autosomal recessive nonsyndromic deafness 125		ISO	RGD:1348959	D	RGD:7240710	20240717	OMIM			
12057961	GAS2	growth arrest specific 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12057961	GAS2	growth arrest specific 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1558248	D	RGD:9068941	20220825	MouseDO			
12057961	GAS2	growth arrest specific 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12057961	GAS2	growth arrest specific 2	gene	DOID:3275	thymoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057961	GAS2	growth arrest specific 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12057961	GAS2	growth arrest specific 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12057961	GAS2	growth arrest specific 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12057961	GAS2	growth arrest specific 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057961	GAS2	growth arrest specific 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057961	GAS2	growth arrest specific 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1348959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12057961	GAS2	growth arrest specific 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057976	CHN1	chimerin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057976	CHN1	chimerin 1	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:732086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	
12057976	CHN1	chimerin 1	gene	DOID:0061028	Duane retraction syndrome 2		ISO	RGD:732086	D	RGD:7240710	20200304	OMIM			
12057976	CHN1	chimerin 1	gene	DOID:0061028	Duane retraction syndrome 2		ISO	RGD:732086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: DUANE RETRACTION SYNDROME 2 | ClinVar Annotator: match by term: Duane retraction syndrome 2	PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532
12057976	CHN1	chimerin 1	gene	DOID:10534	stomach cancer		ISO	RGD:732086	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12057976	CHN1	chimerin 1	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1332053	D	RGD:9068941	20260604	MouseDO		OMIM:126800 | OMIM:604356	
12057976	CHN1	chimerin 1	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732086	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12057976	CHN1	chimerin 1	gene	DOID:13501	Moebius syndrome		ISO	RGD:732086	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Moebius syndrome	
12057976	CHN1	chimerin 1	gene	DOID:3275	thymoma		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057976	CHN1	chimerin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12057976	CHN1	chimerin 1	gene	DOID:630	genetic disease		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18653847|PMID:21715346
12057976	CHN1	chimerin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057976	CHN1	chimerin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:27421701|REF_RGD_ID:126779562
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050581	brachydactyly		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:10425038|PMID:14754616|PMID:15101044|PMID:15280931|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17341484|PMID:17351744|PMID:17502119|PMID:20826828|PMID:21833744|PMID:22529920|PMID:23585524|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28492532|PMID:33191115|PMID:37091313|PMID:9792409
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MANTLE CELL LYMPHOMA, SOMATIC	PMID:23807571|PMID:25614872|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	PMID:11889466|PMID:12810666|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:31050087|PMID:31611883|PMID:33547824|PMID:34628594|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050835	generalized dystonia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:increased expression:mucosa of oral region (human)	PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0051064	left ventricular failure		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:27895165|REF_RGD_ID:12879393
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:decreased expression:hepatocyte	PMID:11751435|REF_RGD_ID:1599367
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060249	scoliosis		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060260	ptosis		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080158	herpes simplex virus keratitis	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210416	RGD			PMID:24370835|REF_RGD_ID:126781690
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 2	PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:12815592|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:21933854|PMID:23322442|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:28779002|PMID:29478780|PMID:31050087|PMID:31382929|PMID:32522261|PMID:33280026|PMID:33471991|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34308104|PMID:34686943|PMID:36315919|PMID:8845835|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532|PMID:28652578|PMID:30279689|PMID:30287823|PMID:31214711|PMID:33436325|PMID:33471991|PMID:34262154|PMID:34326862|PMID:36243179
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080855	Parkinsonism		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0081042	T-cell prolymphocytic leukemia		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:9833910	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy	PMID:21665257|PMID:24448499|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26689913|PMID:27067391|PMID:27854218|PMID:28051113|PMID:28135145|PMID:28492532|PMID:28843361|PMID:29752822|PMID:32365829|PMID:32986223|PMID:33128190|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33606809|PMID:34326862|PMID:35264596|PMID:35534704|PMID:35957908|PMID:37436117
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11526498|PMID:12552559|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21792198|PMID:22146522|PMID:22649200|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28767289|PMID:28779002|PMID:29625052|PMID:29922827|PMID:30549301|PMID:31285527|PMID:32427313|PMID:33471991|PMID:35047863|PMID:35483985|PMID:8845835|PMID:9463314
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10155	intestinal cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: cancer prostate	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10425038|PMID:12552559|PMID:17910737|PMID:18431795|PMID:19691550|PMID:21665257|PMID:22213089|PMID:22527104|PMID:23454770|PMID:23807571|PMID:24405665|PMID:24935205|PMID:25122203|PMID:25614872|PMID:25741868|PMID:26439923|PMID:26467025|PMID:26846839|PMID:27779110|PMID:27989354|PMID:28492532|PMID:28779002|PMID:29368341|PMID:29478780|PMID:29522266|PMID:29641532|PMID:32091409|PMID:32885271|PMID:32962506|PMID:33471991|PMID:36988593
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210827	RGD		protein:decreased expression:mucosa of stomach (human)	PMID:23649938|REF_RGD_ID:150340700
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:decreased phosphorylation:stomach (human)	PMID:17928013|REF_RGD_ID:150340715
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD			PMID:23861893|REF_RGD_ID:10047419
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10907	microcephaly		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19781682|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:33471991|PMID:36243179
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30607632
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28054583|PMID:28492532|PMID:33280026
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11476	osteoporosis		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:16644862|REF_RGD_ID:10047420
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11830	myopia		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17344846|PMID:19404735|PMID:19781682|PMID:20305132|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:26898890|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33436325|PMID:33471991|PMID:33606809|PMID:34008015|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1240	leukemia		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:7240710	20260805	OMIM			
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35145552|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741914|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37529773|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36790564|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37712079|PMID:37762649|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20054297|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120057|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24726177|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159474|PMID:31159747
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34387910|PMID:34399810|PMID:34401606|PMID:34426522|PMID:34433815|PMID:34445196
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39077936|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|PMID:39825153|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17923702|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20054297|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26388441|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30709382|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30885352|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31131953|PMID:31139954|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31745173|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32624572|PMID:32655291|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:32802943|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33047316|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33296026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34282249|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34426522
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34754157|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34887416|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35220195|PMID:35221880|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35729272|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36161273|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36563937|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37540892|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37656691|PMID:37712079|PMID:37762649|PMID:37833309|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38049230|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38313678|PMID:38327652|PMID:38354330|PMID:38355628|PMID:38404774|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38522067|PMID:38570878|PMID:38673061|PMID:38697030|PMID:38734904|PMID:38843839|PMID:38854136|PMID:38854973|PMID:38874686|PMID:38896321|PMID:38917355|PMID:39021548|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39636577|PMID:39825153|PMID:40105422|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11821961|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14634505|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15217508|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:24568663|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:24954719|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25159481|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26207792|PMID:26214590|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26388441|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28775315|PMID:28779002|PMID:28825054|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29731985|PMID:29753700|PMID:29754934|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967250
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31169336|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32005694|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32256484|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32606146|PMID:32624572|PMID:32658311|PMID:32659497|PMID:32694154|PMID:32710489|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32802943|PMID:3280694|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33047316|PMID:33050356|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:34377931|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34489640|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34628594|PMID:34646395|PMID:34653365|PMID:34654685|PMID:34659905|PMID:34754157|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34884835|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35729272|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36563937|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37075885|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37239058|PMID:37306523|PMID:37323311|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37591896|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38415270|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38697030|PMID:38854136|PMID:38874686|PMID:39021548|PMID:39077936|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39272813|PMID:39825153|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:1300551|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17001642|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21164480|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:2491181|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25115387|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25892863|PMID:25914063|PMID:25980754|PMID:26010451|PMID:26023681|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26181193|PMID:26182300|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26320869|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:26718692|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29308099|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29961768|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31472684|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31794323|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32462469|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32866655|PMID:32868316
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33003326|PMID:33012025|PMID:33047316|PMID:33083949|PMID:33084218|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33429865|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34107524|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34371384|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35652560|PMID:35716007|PMID:35717579|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37232349|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38439815|PMID:38489015|PMID:38520597|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:39825153|PMID:40115062|PMID:40161544|PMID:40403485|PMID:40446793|PMID:40565533|PMID:40580951|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9043869|PMID:9121450|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12610666|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16941484|PMID:16998505|PMID:17000706|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17726045|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25115387|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25303977|PMID:25318351|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25882375|PMID:25914063|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26023681|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26207792|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26635394|PMID:26658419|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26718692|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27276934|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27479817|PMID:27484032|PMID:27535334|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28451460|PMID:28486781|PMID:28492532|PMID:28497333|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28714976|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29961768|PMID:29967250|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30197789|PMID:30256826|PMID:30257646|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30833958|PMID:30883245|PMID:30888062|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31069529|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32255556|PMID:32300177|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32462469|PMID:32488064|PMID:32531373|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:3280694|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33047316|PMID:33083949|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33376610|PMID:33395407|PMID:33415580|PMID:33429865|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33758026|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34196900|PMID:34199532|PMID:34200508|PMID:34204722|PMID:34247626|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34646395|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:34994613|PMID:35008949|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35098669|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35666082|PMID:35716007|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36167400|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37232349|PMID:37239058|PMID:37323311|PMID:37345735|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37712079|PMID:37773632|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38201484|PMID:38355628|PMID:38416404|PMID:38439815|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39226054|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40115062|PMID:40161544|PMID:40446793|PMID:40565533|PMID:40580951|PMID:41156180|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12552559|PMID:12552566|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15503472|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16112413|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17001642|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17670065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20051774|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22869595|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23055520|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23640770|PMID:23652012|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24568663|PMID:24695838|PMID:24705252|PMID:24728327|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:2491181|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25115387|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25428789|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25589618|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25980754|PMID:26010451|PMID:26023681|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26181193|PMID:26247737|PMID:26270727|PMID:26296701|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26718692|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27871447|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28182994|PMID:28202063|PMID:28211887|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28423363|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28714976|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28888541|PMID:28894253|PMID:28912153|PMID:28916186|PMID:28966033|PMID:28975465|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29271107|PMID:29308099|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29731985|PMID:29753700|PMID:29758562|PMID:29763623|PMID:29769598|PMID:29866652|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29926184|PMID:29945567|PMID:29967250|PMID:29978950|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30128536|PMID:30159786|PMID:30181556|PMID:30197789|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30482293|PMID:30543347|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30630526|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30713859|PMID:30716324|PMID:30772474|PMID:30819809|PMID:30824826|PMID:30833958|PMID:30888062|PMID:30982232|PMID:31050087|PMID:31069529|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31300551|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31470354|PMID:31497750|PMID:3149931|PMID:31589614|PMID:31611883|PMID:31626222|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31788995|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31948886|PMID:31970404|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32300177|PMID:32321774|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32462469|PMID:32488064|PMID:32522261|PMID:32531373|PMID:32581083|PMID:32624572|PMID:32658311|PMID:32694154|PMID:32726432|PMID:32748564|PMID:32756499|PMID:32761968|PMID:32775531|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32868316|PMID:32885271|PMID:32888943
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AT, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: ATAXIA-TELANGIECTASIA | ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:32901917|PMID:32906206|PMID:32957588|PMID:32959997|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33047316|PMID:33050356|PMID:33083949|PMID:33084218|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:33383211|PMID:33395407|PMID:33429865|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33893081|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34196900|PMID:34199532|PMID:34200508|PMID:34204722|PMID:34247626|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34401606|PMID:34404412|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477998|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34582042|PMID:34659905|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34824606|PMID:35008949|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35078817|PMID:35098669|PMID:35101336|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35155181|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35626031|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35719373|PMID:35729272|PMID:35734982|PMID:3574400|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36135357|PMID:36139606|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36243179|PMID:36290365|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:36387226|PMID:36446039|PMID:36547062|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36744932|PMID:36765721|PMID:36790564|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36933202|PMID:36966138|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37232349|PMID:37323311|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37712079|PMID:37773632|PMID:37802069|PMID:37833309|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38374498|PMID:38416404|PMID:38439815|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:38854136|PMID:38874686|PMID:38917355|PMID:39021548|PMID:39052144|PMID:39077936|PMID:39256447|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40115062|PMID:40161544|PMID:40225916|PMID:40446793|PMID:40565533|PMID:40580951|PMID:41156180|PMID:41596415|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1272	telangiectasis		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:10330348|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:30262796|PMID:8659541|PMID:9150358|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1380	endometrial cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD			PMID:17164260|REF_RGD_ID:2293868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1389	polyneuropathy		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:cingulate gyrus	PMID:20502937|REF_RGD_ID:10053605
12057995	ATM	ATM serine/threonine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16603769|PMID:22006793|PMID:23585524|PMID:23807571|PMID:25614872|PMID:25741868|PMID:25980754|PMID:28492532|PMID:30287823|PMID:31447099|PMID:32885271|PMID:35101336|PMID:40580951
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:10817650|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12882767|PMID:12935933|PMID:14695997|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16574953|PMID:16631465|PMID:16832357|PMID:17023046|PMID:17333338|PMID:17341484|PMID:17393301|PMID:17517479|PMID:17623063|PMID:17640065|PMID:19404735|PMID:19431188|PMID:19781682|PMID:20305132|PMID:20826828|PMID:21787400|PMID:21833744|PMID:21933854|PMID:22369572|PMID:22529920|PMID:23091097|PMID:23555315|PMID:23585524|PMID:23807571|PMID:24142997|PMID:24416720|PMID:24728327|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25523272|PMID:25587027|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26009992|PMID:26123645|PMID:26207792|PMID:26467025|PMID:26580448|PMID:26898890|PMID:26901136|PMID:27146902|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:29522266|PMID:29641532|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31415627|PMID:31742824|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:9792409|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colonic carcinoma	PMID:10023947|PMID:10425038|PMID:10464642|PMID:11996792|PMID:12362033|PMID:12673804|PMID:12935933|PMID:14754616|PMID:15101044|PMID:15280931|PMID:15880721|PMID:16167060|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17502119|PMID:17517479|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19431188|PMID:20826828|PMID:21833744|PMID:22438227|PMID:22529920|PMID:23125224|PMID:23272087|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25085752|PMID:25318351|PMID:25741868|PMID:25980754|PMID:26467025|PMID:27146902|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27664052|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28598434|PMID:31415627|PMID:33191115|PMID:37091313|PMID:8665503|PMID:8797579|PMID:9043869|PMID:9792409|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1596	depressive disorder		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:15054841|PMID:17344846|PMID:17576681|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29945567|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33479248|PMID:33606809|PMID:35047863|PMID:37529773|PMID:9536098
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:7240710	20260805	OMIM			
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28188106|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:30883245|PMID:30938815|PMID:30995915|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33747920|PMID:34262154|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29470806|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35716007|PMID:36029002|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35980532|PMID:36029002|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36555667
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35029067|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:35039564|PMID:35047863|PMID:35085662|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:37438524|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34271781|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37536918|PMID:37762649|PMID:38147532|PMID:38156855|PMID:38489015|PMID:38697030|PMID:38854973|PMID:38874686|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:2677459
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37536918|PMID:37762649|PMID:38147532|PMID:38156855|PMID:38489015|PMID:38697030|PMID:38854973|PMID:38874686|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21164480|PMID:21346221|PMID:21396839|PMID:21445571|PMID:21514219|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24568663|PMID:24584352|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24935205|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25318351|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25862857|PMID:25882375|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26164066|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27043212|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27153395|PMID:27322425|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28338653|PMID:28423360|PMID:28451460|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28608266|PMID:28652578|PMID:28687971|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29127364|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29785153|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29958926|PMID:29967250|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30339652|PMID:30363071|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30662270|PMID:30697212|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31472684|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31704732|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31794323|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32133419|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34271781|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34477817|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35284771|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35599270|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36155879|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37450374|PMID:37536918|PMID:37540892|PMID:37762649|PMID:38118367|PMID:38136308|PMID:38147532|PMID:38156855|PMID:38327652|PMID:38404774|PMID:38489015|PMID:38697030|PMID:38734904|PMID:38854973|PMID:38874686|PMID:39122510|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35029067|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10817650|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17333338|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17876757|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20840352|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22006793|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26320869|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27468087|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27782108|PMID:27878467|PMID:27913932|PMID:28135145|PMID:28202063|PMID:28259476|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29522266|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29909963|PMID:29945567|PMID:30086788|PMID:30159786|PMID:30256826|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30579816|PMID:30607632|PMID:30697212|PMID:30816533|PMID:30883245|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31422574|PMID:31428572|PMID:31472684|PMID:31611883|PMID:31658756|PMID:31780696|PMID:31794323|PMID:31920950|PMID:32039725|PMID:32183364|PMID:32325837|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34628594|PMID:34646395|PMID:34686943|PMID:35047863|PMID:35264596|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:39590369|PMID:40403485|PMID:40580951|PMID:8808599|PMID:8845835|PMID:9443866|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:1300551|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:15039971|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16631465|PMID:16914028|PMID:16941484|PMID:17124347|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17640065|PMID:17876757|PMID:17910737|PMID:18384426|PMID:18431795|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20981092|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22071889|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23114601|PMID:23242139|PMID:23322442|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24120321|PMID:24142997|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24512911|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24935205|PMID:25037873|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25186627|PMID:25318351|PMID:25428789|PMID:25479140|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26010451|PMID:26094658|PMID:26098866|PMID:26123645|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26689913|PMID:26787654|PMID:26845104|PMID:26846839|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27083775|PMID:27150160|PMID:27153395|PMID:27276934|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27621404|PMID:27779110|PMID:27782108|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28492530|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28843361|PMID:29053726|PMID:29356034|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29665859|PMID:29906526|PMID:29945567|PMID:29967250|PMID:30086788|PMID:30159786|PMID:30192042|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30549301|PMID:30579816|PMID:30716324|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31428572|PMID:31691010|PMID:31704732|PMID:31741144|PMID:31780696|PMID:31815095|PMID:31920950|PMID:31921190|PMID:32039725|PMID:32183364|PMID:32255556|PMID:32315455|PMID:32318955|PMID:32427313|PMID:32461654|PMID:32522261|PMID:32658311|PMID:32832836|PMID:32866655|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33436325|PMID:33462019|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33747920|PMID:33804961|PMID:34009545|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34628594|PMID:34686943|PMID:35008949|PMID:35078817|PMID:35101336|PMID:35145552|PMID:35273153|PMID:35451682|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35652560|PMID:35717579|PMID:3574400|PMID:35980532|PMID:36155879|PMID:36898365|PMID:36988593|PMID:37239058|PMID:37349538|PMID:37438524|PMID:38002934|PMID:38156855|PMID:38520597|PMID:38874686|PMID:39590369|PMID:40580951|PMID:8808599|PMID:8845835|PMID:8968760|PMID:9443866|PMID:9450906|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20260806	RGD			PMID:11200774|REF_RGD_ID:1643350
12057995	ATM	ATM serine/threonine kinase	gene	DOID:162	cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATM-related cancer predisposition	PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:114480|PMID:11606401|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:14695534|PMID:14735203|PMID:15280931|PMID:15756685|PMID:15843990|PMID:15928302|PMID:16014569|PMID:16199547|PMID:16266405|PMID:16411093|PMID:16631465|PMID:16832357|PMID:16941484|PMID:17124347|PMID:17344846|PMID:17351744|PMID:17490827|PMID:17517479|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18497957|PMID:18573109|PMID:18701470|PMID:18846412|PMID:19147735|PMID:19224889|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:19770270|PMID:19773425|PMID:19781682|PMID:20077034|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20840352|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22006793|PMID:22071889|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23555315|PMID:23640770|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24549055|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25037873|PMID:25085752|PMID:25122203|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27568332|PMID:27616075|PMID:27664052|PMID:27978560|PMID:27980538|PMID:28087566|PMID:28135145|PMID:28202063|PMID:28211887|PMID:28281021|PMID:28282032|PMID:28492532|PMID:28503720|PMID:28652578|PMID:28714976|PMID:28724667|PMID:28779002|PMID:28873162|PMID:29053726|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29909963|PMID:29922827|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30661751|PMID:30697212|PMID:30772474|PMID:30816533|PMID:31050087|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31350202|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31472684|PMID:31611883|PMID:31731261|PMID:31742824|PMID:31794323|PMID:31843900|PMID:31921190|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32371905|PMID:32427313|PMID:32521533|PMID:32566746|PMID:32658311|PMID:32756499|PMID:32802943|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:34200508|PMID:34262154|PMID:34271781|PMID:34488871|PMID:34489640|PMID:34539671|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35098669|PMID:35304488|PMID:35441217|PMID:35475445|PMID:35666082|PMID:35717579|PMID:3574400|PMID:36167400|PMID:36243179|PMID:36293153|PMID:36315513|PMID:36315919|PMID:36547062|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37232349|PMID:37438524|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38091153|PMID:38136308|PMID:38522067|PMID:38781545|PMID:38843839|PMID:39138584|PMID:40580951|PMID:8808599|PMID:9043869|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9622061|PMID:9711876|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098866|PMID:26098869
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	RGD		DNA:SNP: :60G>A(human)	PMID:18381943|REF_RGD_ID:2317234
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1606040	D	RGD:9068941	20260709	RGD		DNA:SNP:intron:rs664677 (human)	PMID:16520463|REF_RGD_ID:2317367
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs1801516(human)	PMID:19147782|REF_RGD_ID:2317363
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1824	status epilepticus		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:11852039|REF_RGD_ID:1599366
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10677309|PMID:10873394|PMID:19770270|PMID:19781682|PMID:20346647|PMID:21778326|PMID:21787400|PMID:21792198|PMID:22649200|PMID:23807571|PMID:24120321|PMID:25614872|PMID:25741868|PMID:26976419|PMID:27980538|PMID:28492532|PMID:28779002|PMID:29625052|PMID:30322717|PMID:30549301|PMID:31050087|PMID:32255556|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33509806|PMID:9450906
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rectal neoplasm	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:15054841|PMID:17344846|PMID:17576681|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:29945567|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33479248|PMID:33606809|PMID:35047863|PMID:37529773|PMID:9536098
12057995	ATM	ATM serine/threonine kinase	gene	DOID:219	colon cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:15054841|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33479248|PMID:9536098
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2349	arteriosclerosis	susceptibility	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:15863839|REF_RGD_ID:1601249
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:11443540|PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:19404735|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28135048|PMID:28492532|PMID:28580595|PMID:28779002|PMID:30287823|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33471991|PMID:34262154|PMID:36315919|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28135048|PMID:28202063|PMID:28492532|PMID:28580595|PMID:28779002|PMID:30287823|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33471991|PMID:34009545|PMID:34262154|PMID:36315919|PMID:38002934|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urothelial carcinoma	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:33280026|PMID:34009545|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar Annotator: match by term: endometrium carcinoma	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:133608|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31206626|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma | ClinVar Annotator: match by term: endometrium carcinoma	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:133608|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27568332|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31206626|PMID:31382929|PMID:31611883|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:10817650|PMID:12552559|PMID:12673797|PMID:12815592|PMID:15928302|PMID:16411093|PMID:16832357|PMID:19781682|PMID:20346647|PMID:21665257|PMID:22213089|PMID:23807571|PMID:24549055|PMID:25122203|PMID:25614872|PMID:25741868|PMID:26689913|PMID:26896183|PMID:27433846|PMID:27616075|PMID:28135145|PMID:28492532|PMID:28779002|PMID:29478780|PMID:31050087|PMID:31731261|PMID:32853339|PMID:33471991|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3087	gingivitis		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3144	cutis laxa		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3275	thymoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3277	thymus cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymus cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3312	bipolar disorder		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:15054841|PMID:17344846|PMID:17576681|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33479248|PMID:33606809|PMID:37529773|PMID:9536098
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:10330348|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11606401|PMID:11805335|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15279808|PMID:15390180|PMID:16014569|PMID:16266405|PMID:16832357|PMID:16864838|PMID:17124347|PMID:17344846|PMID:17576681|PMID:18384426|PMID:18634022|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:20153123|PMID:20301790|PMID:21354641|PMID:21445571|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:21965147|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22585167|PMID:23264026|PMID:23585524|PMID:23807571|PMID:25077176|PMID:25122203|PMID:25479140|PMID:2557216|PMID:25572163|PMID:25614872|PMID:25741868|PMID:25957637|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26681312|PMID:26787654|PMID:26837699|PMID:26976419|PMID:27159176|PMID:27433846|PMID:27484032|PMID:27664052|PMID:27884168|PMID:28120234|PMID:28126470|PMID:28492532|PMID:28580595|PMID:28652578|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29478780|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30549301|PMID:30579816|PMID:30819809|PMID:31050087|PMID:31159747|PMID:31741144|PMID:32658311|PMID:32854451|PMID:32957588|PMID:33280026|PMID:8755918|PMID:9463314|PMID:9536098|PMID:9622061|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10330348|PMID:10397742|PMID:10677309|PMID:10817650|PMID:10873394|PMID:11443540|PMID:11526498|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:16941484|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19770270|PMID:19781682|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20840352|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:22146522|PMID:22213089|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26837699|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:27978560|PMID:27980538|PMID:28202063|PMID:28492532|PMID:28652578|PMID:28767289|PMID:28779002|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29922827|PMID:30303537|PMID:30322717|PMID:30549301|PMID:31050087|PMID:31159747|PMID:31285527|PMID:31382929|PMID:31611883|PMID:32255556|PMID:32427313|PMID:32522261|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33509806|PMID:34009545|PMID:34326862|PMID:35047863|PMID:35171259|PMID:35264596|PMID:35467778|PMID:35483985|PMID:36029002|PMID:36555667|PMID:38002934|PMID:8845835|PMID:9450906|PMID:9463314|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:decreased expression:lymph node	PMID:10748873|REF_RGD_ID:1643351
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3462	hamartoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hamartoma	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3571	liver cancer	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210903	RGD			PMID:19919837|REF_RGD_ID:150340702
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		Smoke Inhalation Injury; mRNA:increased expression:esophagus (human)	PMID:17019709|REF_RGD_ID:150340713
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNP:intron:(rs228589) (human)	PMID:28642860|REF_RGD_ID:150383339
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNPs,haplotypes:intron: (rs227060, rs170548) (human)	PMID:17582598|REF_RGD_ID:150383340
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:21641396|REF_RGD_ID:126779561
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:3969	papillary thyroid carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20231026	RGD		associated with Radiation-Induced Neoplasms;DNA:SNPs,haplotypes:exon 39,intron 22,intron 48: p.D1853N, IVS22-77 T>C, IVS48 + 238 C>G (rs1801516, rs664677, rs609429)	PMID:19286843|REF_RGD_ID:401850780
12057995	ATM	ATM serine/threonine kinase	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:10330348|PMID:10817650|PMID:16461462|PMID:17124347|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532|PMID:39521281
12057995	ATM	ATM serine/threonine kinase	gene	DOID:4007	bladder carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary bladder carcinoma	PMID:25741868|PMID:28492532|PMID:28779002|PMID:29522266|PMID:29641532|PMID:33471991
12057995	ATM	ATM serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:4606	bile duct cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bile duct cancer	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5082	liver cirrhosis		ISO	RGD:1606040	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:36526012
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5223	infertility		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5223	infertility		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:27895165|REF_RGD_ID:12879393
12057995	ATM	ATM serine/threonine kinase	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		protein:decreased expression:T cell (human)	PMID:31781094|REF_RGD_ID:126790561
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:SNP:intron:(rs227060) (human)	PMID:28642860|REF_RGD_ID:150383339
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5517	stomach carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric carcinoma	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12473594|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:23585524|PMID:24416720|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26898890|PMID:27153395|PMID:27782108|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:33280026|PMID:34009545|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31428572|PMID:31666926|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28451460|PMID:28492532|PMID:28503720|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30819809|PMID:30851086|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30374176|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32853339|PMID:32866190|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34359559|PMID:34646395|PMID:34994613|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24326041|PMID:24416720|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31867841|PMID:31871109|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34994613|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32885271|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34117267|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34359559|PMID:34646395|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35264596|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326637|PMID:25356970|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25938944|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28008555|PMID:28093192|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30426508|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30819809|PMID:30851086|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35312250|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25356970|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26250988|PMID:26270727
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35495172|PMID:35534218|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37262986|PMID:37436117|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37436117|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792|PMID:26220245
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26416026|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28617965|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29597095|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26206375|PMID:26207792
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36744932|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38854973|PMID:39077936|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36744932|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36744932|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38153744|PMID:38156855|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39077936|PMID:39085400|PMID:39226054|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15174027|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15629612|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:19018867|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20981092|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23143971|PMID:23322442|PMID:23369113|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24853695|PMID:24886963|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25182519|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26220245|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27528516|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:27994516|PMID:28007021|PMID:28008555|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28640387|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29059438|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29445900|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30425284|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159474|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31285527|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31589614|PMID:31611883|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31920950|PMID:31942411|PMID:31948886|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32802943|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471191|PMID:33471991|PMID:33509806|PMID:33525650|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34426522|PMID:34445196|PMID:34489640|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36674612|PMID:36685941|PMID:36703223|PMID:36744932|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37262986|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37762649|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39077936|PMID:39085400|PMID:39122510|PMID:39226054|PMID:39256447|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11173867|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12552566|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:14562025|PMID:14643952|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15217508|PMID:15280931|PMID:15450731|PMID:15629612|PMID:15756685|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16167060|PMID:16199547|PMID:16461462|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:17910737|PMID:18164969|PMID:18261794|PMID:18384426|PMID:18433505|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20544271|PMID:20678261|PMID:20826828|PMID:20927582|PMID:20981092|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21514219|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23369113|PMID:23555315|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24113346|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24834793|PMID:24886963|PMID:24951259|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25862857|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26207792|PMID:26250988|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27067391|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27568332|PMID:27599564|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27782108|PMID:27803004|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27994516|PMID:28087566|PMID:28126470|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28423360|PMID:28451460|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28640387|PMID:28652578|PMID:28717660
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28830922|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29360550|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29684080|PMID:29778231|PMID:29906526|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30197789|PMID:30233647|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30613976|PMID:30620386|PMID:30639167|PMID:30666157|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30883245|PMID:30938815|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31589614|PMID:31638252|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31784482|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31942411|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32068069|PMID:32125938|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32371905|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32659497|PMID:32720237|PMID:32748564|PMID:32802943|PMID:32832836|PMID:32853339|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32957588|PMID:32958592|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33168809|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33471191|PMID:33471991|PMID:33525650|PMID:33544757|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33624863|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33779842|PMID:33850299|PMID:33875564|PMID:33939675|PMID:33980423|PMID:34009545|PMID:34107524|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34489640|PMID:34646395|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35218119|PMID:35257272|PMID:35264596|PMID:35273153|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36555667|PMID:36568162|PMID:36674612|PMID:36685941|PMID:36744932|PMID:36853301|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37306523|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37762649|PMID:38153744|PMID:38156855|PMID:38355628|PMID:39077936|PMID:39226054|PMID:39256447|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8845835|PMID:9043869|PMID:9288106|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9764584|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33003326|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35029067|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35218119|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12552559|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22213089|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27468087|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28503720|PMID:28640387|PMID:28652578|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29785153|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31428572|PMID:31432501|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33779842|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34646395|PMID:35047863|PMID:35145552|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:37529773|PMID:38002934|PMID:38156855|PMID:39256447|PMID:40580951|PMID:8789452|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10677309|PMID:10817650|PMID:10864201|PMID:10873394|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17640065|PMID:17876757|PMID:18384426|PMID:18502988|PMID:18573109|PMID:18701470|PMID:19147735|PMID:19404735|PMID:19431188|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21965147|PMID:22213089|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26182300|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27433846|PMID:27468087|PMID:27484032|PMID:27568332|PMID:27595995|PMID:27664052|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28598434|PMID:28652578|PMID:28724667|PMID:28779002|PMID:28843361|PMID:29059438|PMID:29478780|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29915322|PMID:29922827|PMID:29961768|PMID:30128536|PMID:30256826|PMID:30257646|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30549301|PMID:30666157|PMID:30772474|PMID:30883245|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31415627|PMID:31428572|PMID:31432501|PMID:31589614|PMID:31780696|PMID:31871109|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32325837|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33758026|PMID:33850299|PMID:34009545|PMID:34262154|PMID:34271781|PMID:34326862|PMID:34337741|PMID:34646395|PMID:35078243|PMID:35171259|PMID:35264596|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36243179|PMID:36315513|PMID:36547062|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37436117|PMID:37438524|PMID:38002934|PMID:38156855|PMID:40580951|PMID:8665503|PMID:8755918|PMID:8797579|PMID:9043869|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10873394|PMID:11078475|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11756177|PMID:11849780|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:18164969|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:21396839|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:24954719|PMID:25077176|PMID:25085752|PMID:25148578|PMID:25186627|PMID:25257301|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26123645|PMID:26164066|PMID:26207792|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26917275|PMID:26976419|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27443514|PMID:27460089|PMID:27479817|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27664052|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28126470|PMID:28135145|PMID:28196074|PMID:28202063|PMID:28259476|PMID:28451460|PMID:28492532|PMID:28497333|PMID:28580595|PMID:28598434|PMID:28652578|PMID:28714976|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29371908|PMID:29458332|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:30093976|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30549301|PMID:30666157|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31719806|PMID:31780696|PMID:31871109|PMID:31882575|PMID:32068069|PMID:32183301|PMID:32255556|PMID:32325837|PMID:32371905|PMID:32566746|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33875564|PMID:34200508|PMID:34262154|PMID:34326862|PMID:34488871|PMID:34646395|PMID:34994613|PMID:35047863|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35495172
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:35534218|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36547062|PMID:36744932|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37436117|PMID:37438524|PMID:37773632|PMID:38002934|PMID:38136308|PMID:38522067|PMID:38781545|PMID:39226054|PMID:40580951|PMID:8665503|PMID:8797579|PMID:9043869|PMID:9121450|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11849780|PMID:11889466|PMID:11996792|PMID:12072877|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14695186|PMID:14735203|PMID:14754616|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15280931|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16574953|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17876757|PMID:18321536|PMID:18384426|PMID:18502988|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19770270|PMID:19781682|PMID:20077034|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20826828|PMID:20981092|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:22071889|PMID:22213089|PMID:22438227|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23272087|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25085752|PMID:25122203|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26053404|PMID:26123645|PMID:26155992|PMID:26270727|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27365426|PMID:27375234|PMID:27568332|PMID:27595995|PMID:27613453|PMID:27664052|PMID:27671921|PMID:27782108|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:28126470|PMID:28135145|PMID:28202063|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28598434|PMID:28652578|PMID:28714976|PMID:28724667|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29059438|PMID:29458332|PMID:29470806|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29778231|PMID:29785153|PMID:29906526|PMID:30128536|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30549301|PMID:30666157|PMID:30982232|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31382929|PMID:31415627|PMID:31428572|PMID:31432501|PMID:31843900|PMID:31871109|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32183364|PMID:32255556|PMID:32371905|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32658311|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33747920|PMID:33850299|PMID:34009545|PMID:34200508|PMID:34271781|PMID:34299313|PMID:34326862|PMID:34488871|PMID:35078817|PMID:35098669|PMID:35145552|PMID:35171259|PMID:35264596|PMID:35284771|PMID:35365198|PMID:35467778|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35717579|PMID:35980532|PMID:36029002|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36547062|PMID:36744932|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37091313|PMID:37097610|PMID:37349538|PMID:37438524
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:37529773|PMID:37773632|PMID:38002934|PMID:38136308|PMID:38156855|PMID:38522067|PMID:38781545|PMID:40580951|PMID:8665503|PMID:8789452|PMID:8797579|PMID:9043869|PMID:9121450|PMID:9288106|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5844	myocardial infarction		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:24358288|REF_RGD_ID:10053570
12057995	ATM	ATM serine/threonine kinase	gene	DOID:5844	myocardial infarction		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
12057995	ATM	ATM serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer | ClinVar Annotator: match by term: bilateral breast cancer	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11746755|PMID:11849780|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16199547|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:17517479|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21965147|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23807571|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26681312|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:27913932|PMID:28202063|PMID:28492532|PMID:28495237|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:35716007|PMID:38002934|PMID:38415270|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1606040	D	RGD:9068941	20210423	RGD		protein:increased expression:liver (human)	PMID:12866955|REF_RGD_ID:126781750
12057995	ATM	ATM serine/threonine kinase	gene	DOID:767	muscular atrophy		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:83	cataract		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799786
12057995	ATM	ATM serine/threonine kinase	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:prostate gland	PMID:16997395|REF_RGD_ID:2293869
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21748659|REF_RGD_ID:10053608
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000099	Experimental Colitis	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:20179206|REF_RGD_ID:126781749
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000113	Pneumococcal Meningitis	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:15529270|REF_RGD_ID:126781748
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm of stomach	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000371	influenza A	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:31509427|REF_RGD_ID:126779564
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000495	Tremor		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000784	Fibrosis		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9000808	Hypercholesterolemia	susceptibility	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:15863839|REF_RGD_ID:1601249
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21177254
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11298136|PMID:12815592|PMID:23322442|PMID:25525159|PMID:25741868|PMID:28492532|PMID:8845835
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9001329	Tumor Predisposition Syndrome		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tumor predisposition syndrome	PMID:10873394|PMID:12072877|PMID:12497634|PMID:12637545|PMID:12815592|PMID:15101044|PMID:17699107|PMID:21665257|PMID:21965147|PMID:23322442|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26778106|PMID:26845104|PMID:28152038|PMID:28492532|PMID:29506128|PMID:29915382|PMID:30274973|PMID:31050087|PMID:31447099|PMID:31741144|PMID:32338768|PMID:33436325|PMID:33471991|PMID:35154108|PMID:8845835|PMID:8968760|PMID:9450906
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9001722	Dysarthria		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:11526498|PMID:12552559|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21792198|PMID:22146522|PMID:22649200|PMID:23807571|PMID:25614872|PMID:25741868|PMID:26467025|PMID:27153395|PMID:28492532|PMID:28767289|PMID:28779002|PMID:29625052|PMID:29922827|PMID:30549301|PMID:31285527|PMID:32427313|PMID:33471991|PMID:35047863|PMID:35483985|PMID:8845835|PMID:9463314|PMID:9792409
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9001733	Tinnitus		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17968022
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17502119|PMID:25415046|PMID:26098866|PMID:29610475
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606040	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:14983937|REF_RGD_ID:2293870
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:30262796|PMID:31611883|PMID:8659541|PMID:9150358|PMID:9792409|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9002834	Herpesviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210416	RGD			PMID:22993144|PMID:28701397|REF_RGD_ID:126781689|REF_RGD_ID:126781691
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9003694	Cecal Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cecal neoplasm	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:26467025|PMID:26667234|PMID:27034805|PMID:28492532|PMID:32885271|PMID:39052144|PMID:40580951
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:24184056|REF_RGD_ID:126781746
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:21224054|REF_RGD_ID:10053606
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1593265	D	RGD:9068941	20200609	RGD			PMID:24565947|REF_RGD_ID:10053604
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9004866	Ataxia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Truncal ataxia	PMID:11298136|PMID:12815592|PMID:23322442|PMID:23807571|PMID:25525159|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:8845835|PMID:9792409
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23807571|PMID:25614872|PMID:25741868|PMID:27153395|PMID:28492532|PMID:9792409
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		associated with Neoplasm Metastasis;mRNA, protein: decreased expression:gastrointestinal system, multiple (human)	PMID:22485171|REF_RGD_ID:150340716
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:22768306|REF_RGD_ID:10053607
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006644	Retroviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210423	RGD			PMID:15661267|REF_RGD_ID:126781747
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:17084711|REF_RGD_ID:1601248
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006815	Otorhinolaryngologic Neoplasms	severity	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		mRNA:decreased expression:pharynx,larynx (human)	PMID:21127011|REF_RGD_ID:150340703
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28188106|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31719806|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32906206|PMID:32918381|PMID:32958592|PMID:32986223|PMID:33011440|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33181636|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34204722|PMID:34262154|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21270786|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25974703|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28590052|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36167400|PMID:36200007|PMID:36551643|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32012241|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33206719|PMID:33239428|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:33442023|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35716007|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36551643|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37149759|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36000185|PMID:36029002|PMID:36035419|PMID:36091166
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36099812|PMID:36117189|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31691010
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25677497|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26619011|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27596957|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29025590|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29081736|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29615459|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29700634|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29769598|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30124550|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31300551|PMID:31317629|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31642931
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32012241|PMID:32019284|PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32710489|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32761968|PMID:32772458|PMID:32775531|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33359728|PMID:33365035|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:33471191|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33544757|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34539671|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34884835|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145552|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35599270|PMID:35652560
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36167400|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36674612|PMID:36704080|PMID:36717774|PMID:36898365|PMID:36979741|PMID:36988593|PMID:37009283|PMID:37088804|PMID:37091313|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37453313|PMID:37712079|PMID:38003901|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12091354|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16112413|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17670065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19224889|PMID:19228710|PMID:19347964|PMID:19404735|PMID:19431188|PMID:1953577|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20153123|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21447618|PMID:21459046|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22420423|PMID:22438227|PMID:22520355|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23211698|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23640770|PMID:23667852|PMID:23726790|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24512911|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24763289|PMID:24834793|PMID:2491181|PMID:24935205|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25085752|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26181193|PMID:26247737|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26619011|PMID:26635394|PMID:26667234|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27067391|PMID:27083775|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27535334|PMID:27568332|PMID:27596957|PMID:27599564|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27878467|PMID:27879207|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:28054583|PMID:28076423|PMID:28123174|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28211887|PMID:28281021
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28282032|PMID:28423702|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28687971|PMID:28714976|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29025590|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29144541|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29700634|PMID:29754934|PMID:29758562|PMID:29866652|PMID:29895855|PMID:29906526|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967250|PMID:30062048|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30124550|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30563988|PMID:30579816|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30666157|PMID:30716324|PMID:30824826|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31465090|PMID:31497750|PMID:31611883|PMID:31642931|PMID:31658756|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32005694|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32300177|PMID:32325837|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32522261|PMID:32606146|PMID:32658311|PMID:32710489|PMID:32756499|PMID:32761968|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32866655|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32957588|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33012025|PMID:33083949|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33395407|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33919281|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34196900|PMID:34200508|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34283047|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34433815|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34653963|PMID:34654685|PMID:34686943|PMID:34754157|PMID:34791078|PMID:34917121|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35095854|PMID:35098669|PMID:35101336|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35483985|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35716007|PMID:35717579|PMID:3574400|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36672847|PMID:36898365|PMID:36964972|PMID:36966138|PMID:36988593|PMID:37075885|PMID:37091313|PMID:37097610|PMID:37232349|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37529773|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38003901|PMID:38028594|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38374194|PMID:38439815|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:38874686|PMID:38917355|PMID:39052144|PMID:39256447|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39541563|PMID:39590369|PMID:40225916|PMID:40580951|PMID:41596415
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8659541|PMID:8665503|PMID:8698354|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:decreased expression:muscle:	PMID:18534819|REF_RGD_ID:8693659
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:1606040	D	RGD:9068941	20210416	RGD		Associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNP:intron: (rs11212617) (human)	PMID:23171036|REF_RGD_ID:126781688
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9007722	Myoclonus		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:11889466|PMID:12815592|PMID:14695534|PMID:19773425|PMID:22213089|PMID:25741868|PMID:28492532|PMID:31611883|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with gastritis;mRNA:increased expression:mucosa of stomach (human)	PMID:25069978|REF_RGD_ID:126790566
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with stomach cancer;mRNA:increased expression:stomach (human)	PMID:29128564|REF_RGD_ID:126790563
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:10425038|PMID:11889466|PMID:12815592|PMID:14695534|PMID:14754616|PMID:15101044|PMID:15280931|PMID:16574953|PMID:16652348|PMID:17000706|PMID:17341484|PMID:17351744|PMID:17502119|PMID:19773425|PMID:20826828|PMID:21833744|PMID:22213089|PMID:22529920|PMID:23585524|PMID:24728327|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27146902|PMID:27224988|PMID:27365426|PMID:28492532|PMID:31611883|PMID:33191115|PMID:37091313|PMID:9792409|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008603	Rhabdoviridae Infections	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210430	RGD			PMID:25692705|REF_RGD_ID:126790565
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008604	Radiation Pneumonitis	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		associated with lung cancer;DNA:SNPs:promoter:���111G>A,126713G>A  (rs189037, s373759) (human)	PMID:20171797|REF_RGD_ID:150340755
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:29958926|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:36094610|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151|PMID:32039725
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36000185|PMID:36018153|PMID:36029002|PMID:36035419|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38520597|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39256447|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14706517|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:1739330|PMID:17393301|PMID:1739584|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17632790|PMID:17640065|PMID:17699107|PMID:17726045|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19650357|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19770270|PMID:19773425|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23242139|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24584352|PMID:24643969|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25231023|PMID:25249249|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27994516|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28495237|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28743247|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28894253|PMID:28898322|PMID:28916186|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29271107|PMID:29308099|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29423082|PMID:29445900|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29758562|PMID:29778231|PMID:29785153|PMID:29866652|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:29967250|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279689|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30370249|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30413523|PMID:30420857|PMID:30425284|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30543347|PMID:30549301|PMID:30550363|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30824826|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31658756|PMID:31666926|PMID:31691010|PMID:31704732|PMID:31719806|PMID:31721094|PMID:31729406|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31788995|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32005694|PMID:32008151
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32039725|PMID:32052936|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32300177|PMID:32315455|PMID:32318955|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32368696|PMID:32371905|PMID:32383162|PMID:32383811|PMID:32427313|PMID:32461654|PMID:32471518|PMID:32488064|PMID:32508039|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32548172|PMID:32566746|PMID:32581083|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32720237|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:3280694|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32888943|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32962506|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:32999401|PMID:33003326|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33168809|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33203166|PMID:33206719|PMID:33239428|PMID:33240400|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33330270|PMID:33359728|PMID:33365035|PMID:33376610|PMID:33383211|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33415580|PMID:33421217|PMID:33429865|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33462019|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33502066|PMID:33509806|PMID:33525650|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33598286|PMID:33606809|PMID:33608381|PMID:33624863|PMID:33630411|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33750258|PMID:33758026|PMID:33779842|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33875564|PMID:33916788|PMID:33919281|PMID:33939675|PMID:33940787|PMID:33980423|PMID:34008015|PMID:34009545|PMID:34067464|PMID:34107524|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34445196|PMID:34453918|PMID:34477817|PMID:34477998|PMID:34489640|PMID:34539671|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34654685|PMID:34659905|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34791078|PMID:34820595|PMID:34824606|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34917121|PMID:34949663|PMID:34954471|PMID:34994613|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35085662|PMID:35095854|PMID:35098669|PMID:35127508|PMID:35145272|PMID:35145552|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35257272|PMID:35260348|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35284771|PMID:35304488|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35441217|PMID:35449110|PMID:35451682|PMID:35467778|PMID:35483985|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35586824|PMID:35599270|PMID:35626031|PMID:35652560|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35717579|PMID:35734982|PMID:35763645|PMID:35777164|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36000185|PMID:36003761|PMID:36008414|PMID:36018153|PMID:36029002|PMID:36035419
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:36091166|PMID:36094610|PMID:36099812|PMID:36117189|PMID:36119527|PMID:36132150|PMID:36155879|PMID:36167400|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36329109|PMID:36346689|PMID:3638722|PMID:36387226|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36551643|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36685941|PMID:36703223|PMID:36704080|PMID:36717774|PMID:36744932|PMID:36781323|PMID:36845387|PMID:36853301|PMID:36896836|PMID:36898365|PMID:36979741|PMID:36980780|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37088804|PMID:37091313|PMID:37097610|PMID:37149759|PMID:37201465|PMID:37232349|PMID:37239058|PMID:37262986|PMID:37306523|PMID:37323311|PMID:37331604|PMID:37345735|PMID:37349538|PMID:37436117|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37453313|PMID:37529773|PMID:37536918|PMID:37581139|PMID:37591896|PMID:37628581|PMID:37712079|PMID:37762649|PMID:37833309|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38153744|PMID:38156855|PMID:38201484|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38570878|PMID:38697030|PMID:38854973|PMID:38874686|PMID:39085400|PMID:39138584|PMID:39226054|PMID:39256447|PMID:39825153|PMID:4012663|PMID:581456|PMID:623656|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11078475|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11849780|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935933|PMID:133608|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15643608|PMID:15756685|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16941484|PMID:16998505|PMID:17000706|PMID:17023046|PMID:17124347|PMID:17203191|PMID:17293864|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17670065|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18321536|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18701470|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19691550|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20111735|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22369572|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22995991|PMID:23074045|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24142997|PMID:24172824|PMID:24204193|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:24886963|PMID:2491181|PMID:24935205|PMID:25085752|PMID:25122203|PMID:25148578|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25882375|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26164066|PMID:26181193|PMID:26207792|PMID:26247737|PMID:26317927|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27433846|PMID:27443514|PMID:27460089|PMID:27479817|PMID:27535334|PMID:27568332|PMID:27595995|PMID:27599564|PMID:27664052|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28282032|PMID:28451460|PMID:28492532|PMID:28497333|PMID:28528518|PMID:28569743|PMID:28580595|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28714976|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:29684080|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30104763|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30425284|PMID:30426508|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30666157|PMID:30814645|PMID:30883245|PMID:30957677|PMID:30995915|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31429931|PMID:31432501|PMID:31497750|PMID:31611883|PMID:31658756|PMID:31719806|PMID:31729406|PMID:31742824|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183301|PMID:32300177|PMID:32325837|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32658311|PMID:32756499|PMID:3280694|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33083949|PMID:33095795|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33176972|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33359728|PMID:33395407|PMID:33415580|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33552952|PMID:33646313|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33875564|PMID:33940787|PMID:34008015|PMID:34200508|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34399810|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34646395|PMID:34686943|PMID:34791078|PMID:34994613|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35260754|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35666082|PMID:35716007|PMID:3574400|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36035419|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37097610|PMID:37232349|PMID:37436117|PMID:37438524|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:39226054|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40580951|PMID:8659541|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9452093|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11443540|PMID:11505391|PMID:11526498|PMID:11606401|PMID:11746755|PMID:11849780|PMID:11889466|PMID:11897822|PMID:11996792|PMID:12149228|PMID:12362033|PMID:12473176|PMID:12473594|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12935922|PMID:12935933|PMID:133608|PMID:14634505|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15196260|PMID:15280931|PMID:15450731|PMID:15643608|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16112413|PMID:16167060|PMID:16199547|PMID:16266405|PMID:16380133|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:17000706|PMID:17124347|PMID:17203191|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17670065|PMID:17876757|PMID:17910737|PMID:17968022|PMID:18164969|PMID:18321536|PMID:18384426|PMID:18431795|PMID:18497957|PMID:18502988|PMID:18565893|PMID:18573109|PMID:18634022|PMID:18701470|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19770270|PMID:19773425|PMID:19781682|PMID:19823873|PMID:20077034|PMID:20153123|PMID:20305132|PMID:20346647|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20981092|PMID:21447618|PMID:21593342|PMID:21665257|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21933854|PMID:21965147|PMID:22006793|PMID:22071889|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22763152|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23125224|PMID:23242139|PMID:23272087|PMID:23322442|PMID:23360865|PMID:23376243|PMID:23454770|PMID:23555315|PMID:23561644|PMID:23585524|PMID:23726790|PMID:23807571|PMID:23810757|PMID:23960188|PMID:24033266|PMID:24120321|PMID:24142997|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24512911|PMID:24549055|PMID:24695838|PMID:24728327|PMID:24834793|PMID:2491181|PMID:24935205|PMID:25037873|PMID:25085752|PMID:25122203|PMID:25159481|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25480502|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26098866|PMID:26123645|PMID:26155992|PMID:26181193|PMID:26247737|PMID:26317927|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26635394|PMID:26681312|PMID:26689913|PMID:26771497|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26896183|PMID:26898890|PMID:26911350|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27083775|PMID:27146902|PMID:27150160|PMID:27153395|PMID:27224988|PMID:27276934|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27535334|PMID:27568332|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27779110|PMID:27782108|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27980538|PMID:27989354|PMID:28076423|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28211887|PMID:28281021|PMID:28282032|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28569743|PMID:28580595|PMID:28598434|PMID:28640387|PMID:28652578|PMID:28714976|PMID:28767289|PMID:28779002|PMID:28843361|PMID:28873162|PMID:29053726|PMID:29059438|PMID:29101607|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29489040|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29684080|PMID:29866652|PMID:29906526|PMID:29922827|PMID:29945567|PMID:29967250|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30104763|PMID:30256826|PMID:30262796|PMID:30279689|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30543347|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30625039|PMID:30639167|PMID:30666157|PMID:30716324|PMID:30824826|PMID:31050087|PMID:31159474|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31382929|PMID:31403082|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31497750|PMID:31611883|PMID:31658756|PMID:31704732|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31843900|PMID:31871109|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32300177|PMID:32371905|PMID:32383162|PMID:32427313|PMID:32522261|PMID:32658311|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32962506|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33083949|PMID:33120919|PMID:33128190|PMID:33134171|PMID:33176972|PMID:33181636|PMID:33191115|PMID:33280026|PMID:33309985|PMID:33436325|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33646313|PMID:33742106|PMID:33747920|PMID:33785725|PMID:33804961|PMID:33850299|PMID:33940787|PMID:34008015|PMID:34009545|PMID:34200508|PMID:34204722|PMID:34262154|PMID:34271781|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34488871|PMID:34539671|PMID:34573280|PMID:34686943|PMID:34791078|PMID:35008949|PMID:35047863|PMID:35078243|PMID:35078817|PMID:35098669|PMID:35101336|PMID:35171259|PMID:35171529|PMID:35218119|PMID:35260754|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35467778|PMID:35483985|PMID:35534704|PMID:35666082|PMID:35716007|PMID:35717579|PMID:3574400|PMID:35980532|PMID:36008414|PMID:36029002|PMID:36099812|PMID:36117189|PMID:36135357|PMID:36155879|PMID:36167400|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36346689|PMID:36547062|PMID:36627197|PMID:36898365|PMID:36966138|PMID:36988593|PMID:37091313|PMID:37097610|PMID:37232349|PMID:37349538|PMID:37438524|PMID:37529773|PMID:37712079|PMID:37773632|PMID:38002934|PMID:38003901|PMID:38091153|PMID:38136308|PMID:38153744|PMID:38156855|PMID:38489015|PMID:38522067|PMID:38781545|PMID:38843839|PMID:39052144|PMID:39256447|PMID:39272813|PMID:39427061|PMID:39521281|PMID:39590369|PMID:40225916|PMID:40580951|PMID:41596415|PMID:8659541|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9450906|PMID:9452093|PMID:9463314|PMID:9497252|PMID:9536098|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9792409|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1606040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:11443540|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26898890|PMID:27720647|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29945567|PMID:30287823|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38874686|PMID:40580951
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:11443540|PMID:11897822|PMID:16199547|PMID:19404735|PMID:19781682|PMID:21933854|PMID:23242139|PMID:23555315|PMID:23807571|PMID:25085752|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:27720647|PMID:28492532|PMID:28652578|PMID:28779002|PMID:29665859|PMID:29684080|PMID:29866652|PMID:29945567|PMID:30086788|PMID:30287823|PMID:30613976|PMID:31206626|PMID:31871109|PMID:31920950|PMID:32068069|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33804961|PMID:34262154|PMID:34284872|PMID:34326862|PMID:35402282|PMID:36243179|PMID:36315919|PMID:36898365|PMID:38136308|PMID:38153744|PMID:38874686|PMID:40580951
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:11849780|PMID:17124347|PMID:17517479|PMID:20077034|PMID:25741868|PMID:26467025|PMID:26635394|PMID:28492532|PMID:36315513|PMID:36547062|PMID:40580951|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine	PMID:11606401|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:17490827|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23810757|PMID:24142997|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26917275|PMID:27150160|PMID:27375234|PMID:27568332|PMID:28492532|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:38002934
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10397742|PMID:10817650|PMID:11443540|PMID:11606401|PMID:11996792|PMID:12149228|PMID:12473594|PMID:12697903|PMID:12810666|PMID:14735203|PMID:15042666|PMID:15280931|PMID:15756685|PMID:16631465|PMID:17124347|PMID:17351744|PMID:17393301|PMID:17490827|PMID:18701470|PMID:19404735|PMID:19638463|PMID:19781682|PMID:20305132|PMID:21787400|PMID:21792198|PMID:22213089|PMID:22529920|PMID:22995991|PMID:23114601|PMID:23555315|PMID:23585524|PMID:23810757|PMID:24142997|PMID:24416720|PMID:24695838|PMID:24728327|PMID:24834793|PMID:25085752|PMID:25318351|PMID:25479140|PMID:25587027|PMID:25625042|PMID:25741868|PMID:25980754|PMID:26010451|PMID:26123645|PMID:26467025|PMID:26787654|PMID:26898890|PMID:26917275|PMID:27150160|PMID:27153395|PMID:27375234|PMID:27568332|PMID:27782108|PMID:28054583|PMID:28202063|PMID:28492532|PMID:31382929|PMID:32522261|PMID:32986223|PMID:33134171|PMID:33181636|PMID:33280026|PMID:34009545|PMID:38002934|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210430	RGD			PMID:16533773|REF_RGD_ID:126790575
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		DNA:mutations	PMID:30814645|REF_RGD_ID:150340714
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1606040	D	RGD:9068941	20210409	RGD		protein:decreased expression:epithelium of nasopharynx (human)	PMID:29230817|REF_RGD_ID:126779560
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		associated with Epstein-Barr Virus Infections;mRNA:decreased expression:nasopharyngeal tissue (human)	PMID:19142888|REF_RGD_ID:126790562
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9261	nasopharynx carcinoma	treatment	ISO	RGD:1606040	D	RGD:9068941	20210827	RGD			PMID:28820634|REF_RGD_ID:150340692
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9538	multiple myeloma		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:increased expression:mucosa of oral region (human)	PMID:18288488|REF_RGD_ID:150340709
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9655	oral mucosa leukoplakia	severity	ISO	RGD:1606040	D	RGD:9068941	20210820	RGD		protein:increased expression:mucosa of oral region (human)	PMID:29928356|REF_RGD_ID:150340604
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9669	senile cataract	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20210430	RGD		DNA:SNP:3' UTR: (rs4585) (human)	PMID:29156695|REF_RGD_ID:126790564
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9834	hyperopia		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12057995	ATM	ATM serine/threonine kinase	gene	DOID:9970	obesity		ISO	RGD:1606040	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:17344846|PMID:19404735|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25741868|PMID:26155992|PMID:26467025|PMID:28492532|PMID:28652578|PMID:30256826|PMID:31159747|PMID:31206626|PMID:33606809|PMID:37529773
12058070	COIL	coilin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058070	COIL	coilin	gene	DOID:1115	sarcoma		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058070	COIL	coilin	gene	DOID:5041	esophageal cancer		ISO	RGD:735624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058070	COIL	coilin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735624	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5	PMID:38922859
12058070	COIL	coilin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058070	COIL	coilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058070	COIL	coilin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058081	CTPS2	CTP synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058081	CTPS2	CTP synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058081	CTPS2	CTP synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058081	CTPS2	CTP synthase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058081	CTPS2	CTP synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058081	CTPS2	CTP synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058081	CTPS2	CTP synthase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12058081	CTPS2	CTP synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058081	CTPS2	CTP synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058081	CTPS2	CTP synthase 2	gene	DOID:9256	colorectal cancer	resistance	ISO	RGD:1602693	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:21378502|REF_RGD_ID:5132879
12058125	RDH5	retinol dehydrogenase 5	gene	DOID:11105	fundus albipunctatus		ISO	RGD:1318857	D	RGD:7240710	20180130	OMIM			
12058125	RDH5	retinol dehydrogenase 5	gene	DOID:11830	myopia		ISO	RGD:1318857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
12058125	RDH5	retinol dehydrogenase 5	gene	DOID:8499	night blindness		ISO	RGD:1318857	D	RGD:9068941	20200609	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617  Gly238Trp, Arg280His, Ala294Pro	PMID:10617778|REF_RGD_ID:1599416
12058125	RDH5	retinol dehydrogenase 5	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1318857	D	RGD:9068941	20200609	RGD		fundus albipunctatus (congenital night-blindness disorder), OMIM:601617  Gly238Trp, Arg280His, Ala294Pro	PMID:10617778|REF_RGD_ID:1599416
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0080669	posterior polymorphous corneal dystrophy 4		ISO	RGD:1342517	D	RGD:7240710	20190315	OMIM			
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0080669	posterior polymorphous corneal dystrophy 4		ISO	RGD:1342517	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4 | ClinVar Annotator: match by term: Corneal dystrophy, posterior polymorphous, 4	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29499165
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:7240710	20180130	OMIM			
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:0110557	autosomal dominant nonsyndromic deafness 28		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 28	PMID:12393799|PMID:23813623|PMID:24033266|PMID:25342930|PMID:25741868|PMID:28492532|PMID:30311386
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1342517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1342517	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:29499165
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1342517	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1342517	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9008992	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME		ISO	RGD:1342517	D	RGD:7240710	20180130	OMIM			
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9008992	ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME		ISO	RGD:1342517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Ectodermal dysplasia/short stature syndrome	PMID:24033266|PMID:25741868|PMID:28492532
12058139	GRHL2	grainyhead like transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:5844	myocardial infarction		ISO	RGD:3079	D	RGD:9068941	20230128	RGD		protein:decreased expression:heart (rat)	PMID:24155330|REF_RGD_ID:155882536
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12058163	MEOX2	mesenchyme homeobox 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12058171	COA7	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:7240710	20190515	OMIM			
12058171	COA7	cytochrome c oxidase assembly factor 7	gene	DOID:0070465	autosomal recessive spinocerebellar ataxia with axonal neuropathy 3		ISO	RGD:1606511	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COA7-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 3 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3	PMID:25741868|PMID:28492532
12058171	COA7	cytochrome c oxidase assembly factor 7	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606511	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12058171	COA7	cytochrome c oxidase assembly factor 7	gene	DOID:630	genetic disease		ISO	RGD:1606511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:0080600	COVID-19		ISO	RGD:1313689	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:7240710	20190315	OMIM			
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:0110592	autosomal dominant nonsyndromic deafness 70		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 70 | ClinVar Annotator: match by term: MCM2-related condition	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29706348
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313689	D	RGD:9068941	20200609	RGD			PMID:19946466|REF_RGD_ID:10412048
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313690	D	RGD:9068941	20200609	RGD			PMID:17070803|REF_RGD_ID:10412050
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:1115	sarcoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313689	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23770000
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058178	MCM2	minichromosome maintenance complex component 2	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:1305577	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus	PMID:17931356|REF_RGD_ID:10412049
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868|PMID:40166812
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:40166812
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9001722	Dysarthria		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:40166812
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9002563	Gait Ataxia		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:40166812
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9004866	Ataxia		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:40166812
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9005834	Ependymomas		ISO	RGD:735498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058196	RAB3A	RAB3A, member RAS oncogene family	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertical nystagmus	PMID:25741868|PMID:40166812
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736966	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:1324	lung cancer		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:14283	primary hypertrophic osteoarthropathy		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachydermoperiostosis syndrome	PMID:20083684|PMID:22197487|PMID:22331663|PMID:23509104|PMID:25741868
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736966	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:3275	thymoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:630	genetic disease		ISO	RGD:736966	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9000535	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2		ISO	RGD:736966	D	RGD:7240710	20180130	OMIM			
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9000535	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2		ISO	RGD:736966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | ClinVar Annotator: match by term: PHOAR2-ENTEROPATHY SYNDROME	PMID:22197487|PMID:22553128|PMID:22696055|PMID:22906430|PMID:23509104|PMID:24012041|PMID:24153155|PMID:24929850|PMID:25741868|PMID:26072672|PMID:26539716|PMID:27134495|PMID:28425581|PMID:28492532|PMID:28963081|PMID:29264471|PMID:29313109|PMID:30154299|PMID:30931527|PMID:33852188|PMID:36241536|PMID:36583020|PMID:37334733
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9007281	Primary Hypertrophic Osteoarthropathy, Autosomal Dominant		ISO	RGD:736966	D	RGD:7240710	20210707	OMIM			
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9007281	Primary Hypertrophic Osteoarthropathy, Autosomal Dominant		ISO	RGD:736966	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant | ClinVar Annotator: match by term: SLCO2A1-related condition	PMID:25741868|PMID:28492532|PMID:33852188
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12058205	SLCO2A1	solute carrier organic anion transporter family member 2A1	gene	DOID:9273	citrullinemia		ISO	RGD:736966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: citrullinemia	PMID:24153155|PMID:24929850|PMID:25741868|PMID:28492532|PMID:28963081
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058221	KCTD9	potassium channel tetramerization domain containing 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12058236	EMP1	epithelial membrane protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735990	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058236	EMP1	epithelial membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058236	EMP1	epithelial membrane protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12058236	EMP1	epithelial membrane protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12058236	EMP1	epithelial membrane protein 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:735990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12058236	EMP1	epithelial membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058245	PAX7	paired box 7	gene	DOID:0081351	congenital myopathy 19		ISO	RGD:1604064	D	RGD:7240710	20191016	OMIM			
12058245	PAX7	paired box 7	gene	DOID:0081351	congenital myopathy 19		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 19 | ClinVar Annotator: match by term: Myopathy, congenital, progressive, with scoliosis | ClinVar Annotator: match by term: PAX7-related condition	PMID:25741868|PMID:31092906|PMID:32214227
12058245	PAX7	paired box 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058245	PAX7	paired box 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1604064	D	RGD:7240710	20180130	OMIM			
12058245	PAX7	paired box 7	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:25741868
12058245	PAX7	paired box 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058245	PAX7	paired box 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058245	PAX7	paired box 7	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:25741868
12058245	PAX7	paired box 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:1115	sarcoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:1909	melanoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:3275	thymoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1344314	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058259	HUNK	hormonally up-regulated Neu-associated kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058277	CDH9	cadherin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058277	CDH9	cadherin 9	gene	DOID:1115	sarcoma		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058277	CDH9	cadherin 9	gene	DOID:12849	autistic disorder		ISO	RGD:1354185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19404256
12058277	CDH9	cadherin 9	gene	DOID:3070	high grade glioma		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12058277	CDH9	cadherin 9	gene	DOID:4362	cervical cancer		ISO	RGD:1354185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058298	RHBDL1	rhomboid like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058298	RHBDL1	rhomboid like 1	gene	DOID:1324	lung cancer		ISO	RGD:1347230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058298	RHBDL1	rhomboid like 1	gene	DOID:3275	thymoma		ISO	RGD:1347230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058298	RHBDL1	rhomboid like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347230	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058298	RHBDL1	rhomboid like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058309	BCL2L2	BCL2 like 2	gene	DOID:0002116	pterygium		ISO	RGD:620717	D	RGD:9068941	20200609	RGD		RNA:increased expression:conjunctiva	PMID:27415790|REF_RGD_ID:14394423
12058309	BCL2L2	BCL2 like 2	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1352362	D	RGD:9068941	20200609	RGD			PMID:28094768|REF_RGD_ID:14394511
12058309	BCL2L2	BCL2 like 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1352362	D	RGD:9068941	20200609	RGD			PMID:10638987|REF_RGD_ID:14394422
12058309	BCL2L2	BCL2 like 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1352362	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus, cortex	PMID:15147516|REF_RGD_ID:14394419
12058309	BCL2L2	BCL2 like 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:620717	D	RGD:9068941	20200609	RGD			PMID:20460763|REF_RGD_ID:14394421
12058309	BCL2L2	BCL2 like 2	gene	DOID:11994	atrophy of testis		ISO	RGD:1551699	D	RGD:9068941	20200609	RGD			PMID:9500547|REF_RGD_ID:734642
12058309	BCL2L2	BCL2 like 2	gene	DOID:14227	azoospermia		ISO	RGD:1551699	D	RGD:9068941	20200609	RGD			PMID:9770502|REF_RGD_ID:14394611
12058309	BCL2L2	BCL2 like 2	gene	DOID:1824	status epilepticus		ISO	RGD:620717	D	RGD:9068941	20241031	RGD		protein:increased expression:cytosol	PMID:15036620|REF_RGD_ID:2311439
12058309	BCL2L2	BCL2 like 2	gene	DOID:1826	epilepsy		ISO	RGD:620717	D	RGD:9068941	20200609	RGD		protein:increased expression: hippocampu	PMID:11403928|REF_RGD_ID:14394514
12058309	BCL2L2	BCL2 like 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620717	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex and caudate putamen	PMID:10724126|REF_RGD_ID:14394498
12058309	BCL2L2	BCL2 like 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1352362	D	RGD:9068941	20200609	RGD			PMID:12571640|REF_RGD_ID:14394500
12058309	BCL2L2	BCL2 like 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352362	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain:	PMID:24270187|REF_RGD_ID:14394512
12058309	BCL2L2	BCL2 like 2	gene	DOID:707	B-cell lymphoma	disease_progression	ISO	RGD:1551699	D	RGD:9068941	20200609	RGD			PMID:28094768|REF_RGD_ID:14394511
12058309	BCL2L2	BCL2 like 2	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1352362	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node	PMID:28094768|REF_RGD_ID:14394511
12058322	RPL10L	ribosomal protein L10 like	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1314230	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spermatogenesis maturation arrest	PMID:32111475
12058322	RPL10L	ribosomal protein L10 like	gene	DOID:0112356	spermatogenic failure 63		ISO	RGD:1314230	D	RGD:7240710	20220126	OMIM			
12058322	RPL10L	ribosomal protein L10 like	gene	DOID:10283	prostate cancer		ISO	RGD:1314230	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12058322	RPL10L	ribosomal protein L10 like	gene	DOID:10283	prostate cancer		ISO	RGD:1314230	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12058322	RPL10L	ribosomal protein L10 like	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1314230	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis	
12058327	SMCP	sperm mitochondria associated cysteine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058334	WSCD1	WSC domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058334	WSCD1	WSC domain containing 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1603698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12058334	WSCD1	WSC domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058334	WSCD1	WSC domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058334	WSCD1	WSC domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058334	WSCD1	WSC domain containing 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1603698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12058334	WSCD1	WSC domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:0112343	hereditary spastic paraplegia 82		ISO	RGD:736348	D	RGD:7240710	20200226	OMIM			
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:0112343	hereditary spastic paraplegia 82		ISO	RGD:736348	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 82, autosomal recessive	PMID:25741868|PMID:28492532|PMID:31637422|PMID:32889549|PMID:33454747|PMID:36344539|PMID:37712079
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:1324	lung cancer		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:1909	melanoma		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:3275	thymoma		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:4362	cervical cancer		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:630	genetic disease		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34418069
12058350	PCYT2	phosphate cytidylyltransferase 2, ethanolamine	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058369	ZNF512	zinc finger protein 512	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:0060058	lymphoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:10534	stomach cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058369	ZNF512	zinc finger protein 512	gene	DOID:1115	sarcoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:1324	lung cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058369	ZNF512	zinc finger protein 512	gene	DOID:4362	cervical cancer		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058369	ZNF512	zinc finger protein 512	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12058369	ZNF512	zinc finger protein 512	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:5041	esophageal cancer		ISO	RGD:1349628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058369	ZNF512	zinc finger protein 512	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058369	ZNF512	zinc finger protein 512	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058369	ZNF512	zinc finger protein 512	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058369	ZNF512	zinc finger protein 512	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058396	MED9	mediator complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058403	FKBP1A	FKBP prolyl isomerase 1A	gene	DOID:0050476	Barth syndrome		ISO	RGD:737540	D	RGD:9068941	20220825	MouseDO		OMIM:302060	
12058403	FKBP1A	FKBP prolyl isomerase 1A	gene	DOID:0080855	Parkinsonism		ISO	RGD:2617	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:17877381|REF_RGD_ID:2302074
12058403	FKBP1A	FKBP prolyl isomerase 1A	gene	DOID:1682	congenital heart disease		ISO	RGD:737540	D	RGD:9068941	20200609	RGD			PMID:9461216|REF_RGD_ID:1580388
12058403	FKBP1A	FKBP prolyl isomerase 1A	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12058403	FKBP1A	FKBP prolyl isomerase 1A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:10534	stomach cancer		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:11476	osteoporosis		ISO	RGD:1606486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1606486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606486	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:9009347	Oocyte/Zygote/Embryo Maturation Arrest 24		ISO	RGD:1606486	D	RGD:7240710	20250625	OMIM			
12058413	TUBA1C	tubulin alpha 1c	gene	DOID:9009347	Oocyte/Zygote/Embryo Maturation Arrest 24		ISO	RGD:1606486	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 24	
12058553	GNG8	G protein subunit gamma 8	gene	DOID:10534	stomach cancer		ISO	RGD:735730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058553	GNG8	G protein subunit gamma 8	gene	DOID:409	liver disease		ISO	RGD:735730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:2475	D	RGD:9068941	20240509	RGD			PMID:9927612|REF_RGD_ID:405650696
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:22954124|REF_RGD_ID:14700880
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0050868	hepatocellular adenoma	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:23543859|REF_RGD_ID:14700918
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406608
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:24064383|PMID:25583360|REF_RGD_ID:14700870|REF_RGD_ID:14700884
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26428356
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:29401608|REF_RGD_ID:14700887
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1345007	D	RGD:9068941	20240509	RGD			PMID:29401608|PMID:9927612|REF_RGD_ID:14700887|REF_RGD_ID:405650696
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:25592162|PMID:29902864|REF_RGD_ID:14700893|REF_RGD_ID:14700894
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:30192013|REF_RGD_ID:14700906
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:26703967|REF_RGD_ID:11573192
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26428356
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:28458161|REF_RGD_ID:14700881
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:25317811|REF_RGD_ID:14700871
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:10320	asbestosis		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:leukocyte	PMID:20514434|REF_RGD_ID:4892076
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:22957075|REF_RGD_ID:14700909
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:23002367|REF_RGD_ID:14700877
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:11981	morbid obesity		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		protein:increased activity::3x higher activity in morbidly obese subjects compared to non-obese, activity decreased proportionally with weight loss, activity measured as total oral chlorzoxazone clearance	PMID:12883487|REF_RGD_ID:1626305
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2475	D	RGD:9068941	20230831	RGD		mRNA, protein:increased expression:heart (rat)	PMID:19889059|REF_RGD_ID:401794453
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:12689	acoustic neuroma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:c.-1053C>T (human)	PMID:12540498|REF_RGD_ID:1358568
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1324	lung cancer		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20843640
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:29404441|REF_RGD_ID:14700873
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16510128
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:29404485|REF_RGD_ID:14700911
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20843640
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, extracellular exosome	PMID:29404485|REF_RGD_ID:14700911
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:23819932|REF_RGD_ID:14700915
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1596	depressive disorder		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:20595028|REF_RGD_ID:4892242
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:29404441|REF_RGD_ID:14700873
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:2044	drug-induced hepatitis		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:23619520|REF_RGD_ID:14700910
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:30720227|REF_RGD_ID:14700924
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:2841	asthma		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:17081494|REF_RGD_ID:4892220
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:2841	asthma		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28807506
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:2841	asthma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:leukocyte	PMID:20514434|REF_RGD_ID:4892076
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16142352
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:24412858|PMID:24717297|REF_RGD_ID:14700914|REF_RGD_ID:14700920
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:c.-1053C>T (human)	PMID:12540498|REF_RGD_ID:1358568
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-1293G>C, 7632T>A, 9893C>G (human)	PMID:17442289|REF_RGD_ID:4892219
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:23002367|REF_RGD_ID:14700877
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16142352
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:409	liver disease		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:20392357|REF_RGD_ID:4892216
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:409	liver disease		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:19352025|REF_RGD_ID:4892217
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:409	liver disease		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		associated with familial hyperlipidemia and middle cerebral artery infarction	PMID:23002367|REF_RGD_ID:14700877
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:409	liver disease	no_association	ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:polymorphism, repeat:5' utr (human)	PMID:17950035|REF_RGD_ID:4892218
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:409	liver disease	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21425780|REF_RGD_ID:14700913
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:552	pneumonia		ISO	RGD:10451	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolus, epithelial cell	PMID:14698565|REF_RGD_ID:4892223
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:552	pneumonia		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:15928955|REF_RGD_ID:4142512
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15162526
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNP, Decreased expression:liver: rs2031920 (human)	PMID:29765251|REF_RGD_ID:14700899
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		associated with alcohol dependence	PMID:20364586|REF_RGD_ID:14700882
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:leukocyte	PMID:20514434|REF_RGD_ID:4892076
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:850	lung disease		ISO	RGD:10451	D	RGD:9068941	20200609	RGD		Lung Injury	PMID:8667236|REF_RGD_ID:4892222
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:8618	oral cavity cancer		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:16721740|REF_RGD_ID:14700978
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2475	D	RGD:9068941	20240330	RGD		mRNA:increased expression:liver (rat)	PMID:22781937|REF_RGD_ID:405100969
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18056438
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12771559
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18725507
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:21094789|REF_RGD_ID:4892235
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9004484	Sepsis		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:15665729|REF_RGD_ID:5147745
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1673675|PMID:17093202
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19351467
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:12700423|REF_RGD_ID:2313685
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney, liver	PMID:19406192|REF_RGD_ID:2313683
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9005749	Necrosis		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12086689|PMID:12566070
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:25236742|REF_RGD_ID:14700891
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		protein:increased expression, increased nitration	PMID:25236742|REF_RGD_ID:14700891
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:29404485|REF_RGD_ID:14700911
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2475	D	RGD:9068941	20240328	RGD		mRNA:altered exxpression:liver (rat)	PMID:23413777|REF_RGD_ID:405100715
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2475	D	RGD:9068941	20241121	RGD		associated with Alcoholic Liver Diseases;protein:increased expression:liver	PMID:22545783|REF_RGD_ID:7495839
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006411	Testicular Injury	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:27130490|REF_RGD_ID:14700916
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22156006
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18990727
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17093202
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007329	Human Viral Hepatitis		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:20939108|REF_RGD_ID:14700885
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:10451	D	RGD:9068941	20200609	RGD			PMID:25681370|REF_RGD_ID:14700872
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12668988|PMID:16770646|PMID:21741958|PMID:28762043
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD			PMID:29404441|REF_RGD_ID:14700873
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:27490558|REF_RGD_ID:14700879
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:27324775|REF_RGD_ID:14700878
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:27960551|REF_RGD_ID:14700901
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:14593914|REF_RGD_ID:4889126
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9008616	Patent Ductus Venosus		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24924401|REF_RGD_ID:14700900
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2475	D	RGD:9068941	20200609	RGD			PMID:24963944|REF_RGD_ID:14700896
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:SNP:rs3813867 (human)	PMID:30489355|REF_RGD_ID:14700897
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2031920 (human)	PMID:26582733|REF_RGD_ID:11061495
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10451	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:10679205|REF_RGD_ID:2313687
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte	PMID:12534643|REF_RGD_ID:2313686
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:10049703|REF_RGD_ID:2313688
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18952117
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' utr:reduced frequency of homozygotic C1 RFLP (PstI+, RsaI-) and increased frequency of C2 RFLP (PstI-,RsaI+) in Chinese patients	PMID:14606109|REF_RGD_ID:1626302
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19404342|REF_RGD_ID:4892244
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345007	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte	PMID:12743671|REF_RGD_ID:2313684
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11774269
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9970	obesity		ISO	RGD:1345007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
12058559	CYP2E1	cytochrome P450 family 2 subfamily E member 1	gene	DOID:9970	obesity		ISO	RGD:2475	D	RGD:9068941	20200609	RGD		protein:increased activity:liver,fat	PMID:17049493|REF_RGD_ID:1626307
12058572	RNF146	ring finger protein 146	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058572	RNF146	ring finger protein 146	gene	DOID:10534	stomach cancer		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058572	RNF146	ring finger protein 146	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1552458	D	RGD:9068941	20221020	MouseDO			
12058572	RNF146	ring finger protein 146	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058572	RNF146	ring finger protein 146	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058572	RNF146	ring finger protein 146	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1306482	D	RGD:9068941	20200609	RGD			PMID:28108258|REF_RGD_ID:13524865
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1345144	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:25049379
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1345144	D	RGD:9068941	20260521	RGD		DNA:missense mutation:L265P (human)	PMID:25347427|REF_RGD_ID:11075852
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1345144	D	RGD:9068941	20260521	RGD		DNA:mutation:L265P, L265S (human)	PMID:28803429|REF_RGD_ID:151665120
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050745	diffuse large B-cell lymphoma	severity	ISO	RGD:1345144	D	RGD:9068941	20220317	RGD		DNA:missense mutation:L265P (human)	PMID:31609782|REF_RGD_ID:151665203
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050860	colorectal adenoma	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:30063920|REF_RGD_ID:150519915
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050861	colorectal adenocarcinoma	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211231	RGD		RNA:decreased expression:colon (human)	PMID:28533893|REF_RGD_ID:150540307
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1345144	D	RGD:7240710	20200701	OMIM			
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1345144	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MACROGLOBULINEMIA, WALDENSTROM, SOMATIC | ClinVar Annotator: match by term: MYD88-related condition	PMID:18669862|PMID:20538326|PMID:21179087|PMID:22931316|PMID:23355535|PMID:23836557|PMID:25741868|PMID:28492532|PMID:35101336
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0080199	colorectal carcinoma	ameliorates	ISO	RGD:1345144	D	RGD:9068941	20211105	RGD		human cell line in a mouse model	PMID:31746347|REF_RGD_ID:150520167
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0080199	colorectal carcinoma	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211022	RGD		mRNA:increased expression:colon (human)	PMID:30221070|REF_RGD_ID:150519917
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:25790822|REF_RGD_ID:150519907
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1551097	D	RGD:9068941	20220825	MouseDO			
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:23728346|REF_RGD_ID:150519918
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:10534	stomach cancer	onset	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD		associated with Helicobacter Infections	PMID:24166959|REF_RGD_ID:150519913
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:10763	hypertension		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27292124
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1345144	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:12253	testicular lymphoma		ISO	RGD:730908	D	RGD:9068941	20211203	RGD		associated with diffuse large B-cell lymphoma;DNA:missense mutation:CDS:p.L265P (human)	PMID:28868954|REF_RGD_ID:150524335
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211112	RGD		human cell line in a mouse model	PMID:22938463|REF_RGD_ID:150521529
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:13250	diarrhea		ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:20624890|REF_RGD_ID:150520020
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:1551097	D	RGD:9068941	20211105	RGD		mouse cell line in a mouse model	PMID:20823152|REF_RGD_ID:150520170
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		RNA:increased expression:breast (human)	PMID:26596839|REF_RGD_ID:150524333
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:1909	melanoma	treatment	ISO	RGD:1551097	D	RGD:9068941	20211105	RGD		mouse cell line in a mouse model	PMID:20823152|REF_RGD_ID:150520170
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:2043	hepatitis B		ISO	RGD:1345144	D	RGD:9068941	20211105	RGD		associated with hepatocellular carcinoma;protein:decreased expression:liver (human)	PMID:28370778|REF_RGD_ID:150520169
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:23184679|REF_RGD_ID:150520021
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:2326	gastroenteritis	treatment	ISO	RGD:1551097	D	RGD:9068941	20211231	RGD		associated with colorectal adenocarcinoma; mouse cell line in a mouse model	PMID:31936237|REF_RGD_ID:150540308
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:234	colon adenocarcinoma	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211112	RGD		human cell line in a mouse model	PMID:18538140|REF_RGD_ID:150521533
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:2355	anemia	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:17615359|REF_RGD_ID:150519908
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:2841	asthma	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211112	RGD			PMID:26882889|REF_RGD_ID:11531666
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26861016
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1345144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3234	central nervous system lymphoma	treatment	ISO	RGD:1345144	D	RGD:9068941	20220317	RGD			PMID:28619981|REF_RGD_ID:151665208
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3459	breast carcinoma	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:22088941|REF_RGD_ID:150519914
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3459	breast carcinoma	treatment	ISO	RGD:1551097	D	RGD:9068941	20211105	RGD		mouse cell line in a mouse model	PMID:20823152|REF_RGD_ID:150520170
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345144	D	RGD:9068941	20211022	RGD		protein:increased expression:lung (human)	PMID:31432177|REF_RGD_ID:150519919
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		DNA:hypomethylation:promoter (human)	PMID:32010578|REF_RGD_ID:150524328
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211231	RGD			PMID:30712876|REF_RGD_ID:150540309
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:1551097	D	RGD:9068941	20211105	RGD		mouse cell line in a mouse model	PMID:32140881|REF_RGD_ID:150520172
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1345144	D	RGD:9068941	20211022	RGD		mRNA:splice variants:esophagus (human)	PMID:24527027|REF_RGD_ID:150519911
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:552	pneumonia		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26882889
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:630	genetic disease		ISO	RGD:1345144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345144	D	RGD:9068941	20211022	RGD		mRNA:increased expression:liver (human)	PMID:29022910|REF_RGD_ID:150520022
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		protein:increased expression:liver (human)	PMID:26985932|REF_RGD_ID:150524330
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211112	RGD			PMID:17615358|REF_RGD_ID:150521532
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211105	RGD		protein, mRNA:decreased expression:liver (human)	PMID:28370778|REF_RGD_ID:150520169
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1345144	D	RGD:9068941	20211210	RGD		human gene and cell in a mouse model	PMID:24603331|REF_RGD_ID:150530285
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		human cell line in a mouse model	PMID:32144747|REF_RGD_ID:150524327
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1551097	D	RGD:9068941	20211203	RGD		mouse cell line in a mouse model	PMID:31074165|REF_RGD_ID:150524334
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:735043	D	RGD:9068941	20211203	RGD			PMID:31068809|PMID:33575076|REF_RGD_ID:150521534|REF_RGD_ID:150524329
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:7442	monoclonal gammopathy of uncertain significance		ISO	RGD:1551097	D	RGD:9068941	20220825	MouseDO			
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9000099	Experimental Colitis	exacerbates	ISO	RGD:1551097	D	RGD:9068941	20211112	RGD			PMID:25362351|REF_RGD_ID:150521530
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9000217	Stomach Neoplasms	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:26888865|REF_RGD_ID:150519909
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9001371	Eosinophilia		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26882889
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9001436	Immunodeficiency 68		ISO	RGD:1345144	D	RGD:7240710	20180130	OMIM			
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9001436	Immunodeficiency 68		ISO	RGD:1345144	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 68	PMID:18669862|PMID:19506249|PMID:24316379|PMID:25741868|PMID:28492532|PMID:31301515
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9001642	Intestinal Polyps	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:17615359|REF_RGD_ID:150519908
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:735043	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1551097	D	RGD:9068941	20200609	RGD			PMID:20131263|REF_RGD_ID:8552884
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9003321	Bacterial Keratitis		ISO	RGD:1551097	D	RGD:9068941	20200609	RGD		associated with Serratia Infections;	PMID:23033384|REF_RGD_ID:8662876
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9003321	Bacterial Keratitis		ISO	RGD:1551097	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;	PMID:16926427|REF_RGD_ID:8552819
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9003690	Carcinoma, Lewis Lung	treatment	ISO	RGD:1551097	D	RGD:9068941	20211112	RGD		mouse cell line in a mouse model	PMID:26111447|REF_RGD_ID:150521531
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1345144	D	RGD:9068941	20260131	RGD		associated with Systemic Inflammatory Response Syndrome;DNA:SNP: :rs6853	PMID:26075815|REF_RGD_ID:11251272
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25780291
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:20624890|REF_RGD_ID:150520020
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21473897
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1345144	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:38735591
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004831	Colitis-Associated Neoplasms	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211210	RGD			PMID:21519141|PMID:26712311|REF_RGD_ID:150520168|REF_RGD_ID:150530283
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9004831	Colitis-Associated Neoplasms	exacerbates	ISO	RGD:1551097	D	RGD:9068941	20211210	RGD			PMID:29960049|PMID:30650348|REF_RGD_ID:150521528|REF_RGD_ID:150530281
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9005372	Inflammation		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22053092
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9006302	Binge Drinking		ISO	RGD:735043	D	RGD:9068941	20250130	RGD		mRNA:increased expression:frontal cortex	PMID:23867237|REF_RGD_ID:597538460
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9007346	Cachexia	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211210	RGD		associated with Carcinoma, Lewis Lung	PMID:31138662|REF_RGD_ID:150530282
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211112	RGD			PMID:17615358|REF_RGD_ID:150521532
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:735043	D	RGD:9068941	20200609	RGD			PMID:14962484|REF_RGD_ID:1302746
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:28201999|REF_RGD_ID:150519916
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9008691	Liver Injury	disease_progression	ISO	RGD:1620111	D	RGD:9068941	20211203	RGD			PMID:30770929|REF_RGD_ID:150524332
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9009054	Colorectal Cancer 10	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:33177648|REF_RGD_ID:150519912
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1551097	D	RGD:9068941	20211022	RGD			PMID:30221070|REF_RGD_ID:150519917
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345144	D	RGD:9068941	20211105	RGD		mRNA:decreased expression:colon (human)	PMID:24887488|REF_RGD_ID:150520171
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		DNA:SNP:promoter: (rs4988453) (human)	PMID:24154872|REF_RGD_ID:150524331
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1345144	D	RGD:9068941	20211203	RGD		protein:increased expression:colonic mucosa (human)	PMID:20145615|REF_RGD_ID:150524336
12058596	MYD88	MYD88 innate immune signal transduction adaptor	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1345144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29067999
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:0080016	spina bifida		ISO	RGD:737380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17184542
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy		ISO	RGD:737380	D	RGD:7240710	20180130	OMIM			
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:0112300	spondylometaphyseal dysplasia with cone-rod dystrophy		ISO	RGD:737380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	PMID:24387990|PMID:24387991|PMID:25741868|PMID:28272537|PMID:28492532|PMID:30559292|PMID:32531858
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:10534	stomach cancer		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:1324	lung cancer		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:737380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:24387990|PMID:28492532|PMID:30559292
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:3275	thymoma		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:5041	esophageal cancer		ISO	RGD:737380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:630	genetic disease		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:8501	fundus dystrophy		ISO	RGD:737380	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:9003348	Congenital Generalized Lipodystrophy Type 5		ISO	RGD:737380	D	RGD:7240710	20240124	OMIM			
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:9003348	Congenital Generalized Lipodystrophy Type 5		ISO	RGD:737380	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 5 | ClinVar Annotator: match by term: Lipodystrophy, congenital generalized, type 5 | ClinVar Annotator: match by term: PCYT1A-related condition	PMID:24889630|PMID:25741868|PMID:28492532
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12058604	PCYT1A	phosphate cytidylyltransferase 1A, choline	gene	DOID:9452	steatotic liver disease		ISO	RGD:737380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatic steatosis	PMID:25741868
12058623	EXOC2	exocyst complex component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:0110065	amelogenesis imperfecta type 1F		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F	PMID:25741868
12058623	EXOC2	exocyst complex component 2	gene	DOID:10283	prostate cancer		ISO	RGD:1348584	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
12058623	EXOC2	exocyst complex component 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058623	EXOC2	exocyst complex component 2	gene	DOID:1324	lung cancer		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058623	EXOC2	exocyst complex component 2	gene	DOID:3070	high grade glioma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12058623	EXOC2	exocyst complex component 2	gene	DOID:3275	thymoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058623	EXOC2	exocyst complex component 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058623	EXOC2	exocyst complex component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058623	EXOC2	exocyst complex component 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058623	EXOC2	exocyst complex component 2	gene	DOID:9007202	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA		ISO	RGD:1348584	D	RGD:7240710	20210623	OMIM			
12058623	EXOC2	exocyst complex component 2	gene	DOID:9007202	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA		ISO	RGD:1348584	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: EXOC2-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia	PMID:25741868|PMID:32639540
12058623	EXOC2	exocyst complex component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058623	EXOC2	exocyst complex component 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058623	EXOC2	exocyst complex component 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:1909	melanoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:3275	thymoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:7240710	20210818	OMIM			
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:9006423	Nephronophthisis-like Nephropathy 2		ISO	RGD:1322838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis-like nephropathy 2	PMID:25741868
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058660	SLC41A1	solute carrier family 41 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058691	SNW1	SNW domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058691	SNW1	SNW domain containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1561926	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve (rat)	PMID:23389663|REF_RGD_ID:11035242
12058691	SNW1	SNW domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058691	SNW1	SNW domain containing 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1321977	D	RGD:9068941	20200609	RGD		DNA:snp:intron: T>A (human) (rs1477261)	PMID:19377877|REF_RGD_ID:2683526
12058691	SNW1	SNW domain containing 1	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1321977	D	RGD:9068941	20200609	RGD		DNA:snp:intron: T>A (human) (rs1477261)	PMID:20056645|REF_RGD_ID:11035249
12058691	SNW1	SNW domain containing 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:2355	anemia		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1321977	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:24150787|REF_RGD_ID:11035252
12058691	SNW1	SNW domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058691	SNW1	SNW domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058691	SNW1	SNW domain containing 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1321977	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:23696020|REF_RGD_ID:11035253
12058691	SNW1	SNW domain containing 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1561926	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex (rat)	PMID:22965216|REF_RGD_ID:11035237
12058691	SNW1	SNW domain containing 1	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058691	SNW1	SNW domain containing 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1321977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868|PMID:40608414
12058691	SNW1	SNW domain containing 1	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:1561926	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:25074585|REF_RGD_ID:11035254
12058709	TIMM17B	translocase of inner mitochondrial membrane 17B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058709	TIMM17B	translocase of inner mitochondrial membrane 17B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058709	TIMM17B	translocase of inner mitochondrial membrane 17B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058709	TIMM17B	translocase of inner mitochondrial membrane 17B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:10534	stomach cancer		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:1909	melanoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:3275	thymoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:735371	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:9009449	encephalitis, acute, infection-induced, 12	susceptibility	ISO	RGD:735371	D	RGD:7240710	20260812	OMIM			
12058719	RNH1	ribonuclease/angiogenin inhibitor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058743	RNPEPL1	arginyl aminopeptidase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12058759	KCTD10	potassium channel tetramerization domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1347079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058759	KCTD10	potassium channel tetramerization domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058759	KCTD10	potassium channel tetramerization domain containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347079	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:0061149	hereditary congenital ptosis 1		ISO	RGD:1346362	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ptosis, hereditary congenital, 1 | ClinVar Annotator: match by term: ZFHX4-related condition	PMID:25741868|PMID:28492532
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:0110832	Usher syndrome type 1F		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1F	PMID:25741868
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:10534	stomach cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:1115	sarcoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:3275	thymoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346362	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:16946494|PMID:21802062|PMID:24033266|PMID:24440720|PMID:25741868|PMID:33057194
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:34461323|PMID:36595458|PMID:37434517
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9007700	Congenital Corneal Opacities, Cornea Guttata, and Corectopia		ISO	RGD:1346362	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Congenital corneal opacity	PMID:25741868|PMID:39450701
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058772	ZFHX4	zinc finger homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1346362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12058787	ACTL8	actin like 8	gene	DOID:10534	stomach cancer		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058787	ACTL8	actin like 8	gene	DOID:1909	melanoma		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058787	ACTL8	actin like 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058803	LRRC8C	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058803	LRRC8C	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604274	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
12058803	LRRC8C	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058803	LRRC8C	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:7240710	20250108	OMIM			
12058803	LRRC8C	leucine rich repeat containing 8 VRAC subunit C	gene	DOID:9009275	TIMES Syndrome		ISO	RGD:1604274	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TIMES SYNDROME	
12058818	DNM1	dynamin 1	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:25741868
12058818	DNM1	dynamin 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1552716	D	RGD:9068941	20200609	RGD			PMID:27363778|REF_RGD_ID:11557016
12058818	DNM1	dynamin 1	gene	DOID:0070376	developmental and epileptic encephalopathy 31B		ISO	RGD:733748	D	RGD:7240710	20230531	OMIM			
12058818	DNM1	dynamin 1	gene	DOID:0070376	developmental and epileptic encephalopathy 31B		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31B | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31B	PMID:25741868|PMID:34172529|PMID:36553519|PMID:37798099
12058818	DNM1	dynamin 1	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:733748	D	RGD:7240710	20180130	OMIM			
12058818	DNM1	dynamin 1	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:733748	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31A | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31	PMID:15040446|PMID:16199547|PMID:17576681|PMID:20428113|PMID:25262651|PMID:25741868|PMID:25741869|PMID:26467025|PMID:27066543|PMID:27806796|PMID:28135719|PMID:28492532|PMID:28667181|PMID:29397573|PMID:30097719|PMID:30455886|PMID:31069529|PMID:31785789|PMID:31920647|PMID:32909139|PMID:33004838|PMID:33057194|PMID:34172529|PMID:35982159|PMID:36413998|PMID:9536098
12058818	DNM1	dynamin 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12058818	DNM1	dynamin 1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:20428113|PMID:25262651|PMID:25741868|PMID:37248033
12058818	DNM1	dynamin 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
12058818	DNM1	dynamin 1	gene	DOID:10534	stomach cancer		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058818	DNM1	dynamin 1	gene	DOID:1059	intellectual disability		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	
12058818	DNM1	dynamin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1552716	D	RGD:9068941	20200609	RGD		denntate gyrus, hippocampus, entorhinal cortex	PMID:20847448|REF_RGD_ID:13506238
12058818	DNM1	dynamin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:71096	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus, temporal cortex	PMID:20847448|REF_RGD_ID:13506238
12058818	DNM1	dynamin 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733748	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus,entorhinal cortex:	PMID:20847448|REF_RGD_ID:13506238
12058818	DNM1	dynamin 1	gene	DOID:13141	uveitis		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveitis	PMID:25741868|PMID:28492532
12058818	DNM1	dynamin 1	gene	DOID:1324	lung cancer		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058818	DNM1	dynamin 1	gene	DOID:1826	epilepsy		ISO	RGD:733748	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25262651|PMID:25533962|PMID:25741868|PMID:26611353|PMID:28492532|PMID:28667181|PMID:29314763|PMID:29427836|PMID:39433808
12058818	DNM1	dynamin 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:23781021|PMID:25262651|PMID:28492532|PMID:28667181
12058818	DNM1	dynamin 1	gene	DOID:1909	melanoma		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058818	DNM1	dynamin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058818	DNM1	dynamin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058818	DNM1	dynamin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058818	DNM1	dynamin 1	gene	DOID:630	genetic disease		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15040446|PMID:17576681|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30455886|PMID:31785789|PMID:9536098
12058818	DNM1	dynamin 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:17636067|PMID:21927000|PMID:21962493|PMID:23584531|PMID:25312384|PMID:26302298
12058818	DNM1	dynamin 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
12058818	DNM1	dynamin 1	gene	DOID:9006855	Dog Diseases		ISO	RGD:733748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806795
12058818	DNM1	dynamin 1	gene	DOID:9006878	Exercise Intolerance		IAGP		D	RGD:12801476	20250113	OMIA		Exercise-induced collapse	PMID:18806795|PMID:9918153|PMID:21782486|PMID:19122058|PMID:18981194|PMID:22104507|PMID:21866517|PMID:23387942|PMID:23445289|PMID:24069350|PMID:27487345|PMID:27685362|PMID:30650096|PMID:34946876|PMID:37582787|PMID:38003185
12058818	DNM1	dynamin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058818	DNM1	dynamin 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12058818	DNM1	dynamin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12058818	DNM1	dynamin 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:733748	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12058818	DNM1	dynamin 1	gene	DOID:9970	obesity		ISO	RGD:733748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0060249	scoliosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0060260	ptosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0080006	bone development disease		ISO	RGD:1354498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8955270
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0112019	non-syndromic X-linked intellectual disability 19		ISO	RGD:1354498	D	RGD:7240710	20180130	OMIM			
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:0112019	non-syndromic X-linked intellectual disability 19		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19	PMID:11180593|PMID:15668050|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:26043507|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:10534	stomach cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:10579	leukodystrophy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1059	intellectual disability		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:10907	microcephaly		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1115	sarcoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:11383	cryptorchidism		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:12849	autistic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1307	dementia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1324	lung cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1459	hypothyroidism		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1826	epilepsy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:1909	melanoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:2340	craniosynostosis		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:2468	psychotic disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISO	RGD:1354498	D	RGD:7240710	20180130	OMIM			
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:3783	Coffin-Lowry syndrome		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COFFIN-LOWRY SYNDROME | ClinVar Annotator: match by term: Coffin Lowry Syndrome | ClinVar Annotator: match by term: Coffin-Lowry syndrome | ClinVar Annotator: match by term: Mental retardation with osteocartilaginous abnormalities | ClinVar Annotator: match by term: RPS6KA3-related condition	PMID:10094187|PMID:10528858|PMID:11180593|PMID:11992250|PMID:15668050|PMID:16199547|PMID:16306095|PMID:16879200|PMID:17100996|PMID:17576681|PMID:1956325|PMID:19888300|PMID:25741868|PMID:26043507|PMID:26232052|PMID:28492532|PMID:29304373|PMID:30740391|PMID:31130284|PMID:31319225|PMID:31474762|PMID:32371413|PMID:32858545|PMID:35038833|PMID:36875494|PMID:37804371|PMID:38177409|PMID:9536098|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:4362	cervical cancer		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:4667	kyphosis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:535	sleep disorder		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:5419	schizophrenia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:630	genetic disease		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10094187|PMID:11180593|PMID:11992250|PMID:16879200|PMID:25741868|PMID:28492532|PMID:8955270|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:7166	thyroiditis		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:8927	learning disability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:8986	narcolepsy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Narcolepsy	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:11992250|PMID:16879200|PMID:26633542|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9000641	Pain		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9000734	Oligomenorrhea		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligomenorrhea	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21488662
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9002695	Cataplexy		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataplexy	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9003507	Premature Birth		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:11180593|PMID:19888300|PMID:28492532|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9003760	Myalgia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354498	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004507	Hirsutism		ISO	RGD:1354498	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1354498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21488662
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004595	Diastema		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005077	Joint Instability		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10094187|PMID:11180593|PMID:16879200|PMID:25741868|PMID:28492532
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10094187|PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9005616	Micrognathism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10094187|PMID:11180593|PMID:15668050|PMID:16879200|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31164752|PMID:32858545|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9007573	Flatfoot		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9007661	Dwarfism		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:19888300|PMID:25741868|PMID:28492532|PMID:31474762|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Febrile seizures	PMID:25741868
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11180593|PMID:16879200|PMID:19888300|PMID:22187936|PMID:25644381|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:32371413|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354498	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:11180593|PMID:16199547|PMID:16879200|PMID:19888300|PMID:22187936|PMID:25644381|PMID:25741868|PMID:28492532|PMID:29304373|PMID:31130284|PMID:31474762|PMID:32371413|PMID:36875494|PMID:9837815
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1354498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8955270
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12058844	RPS6KA3	ribosomal protein S6 kinase A3	gene	DOID:988	mitral valve prolapse		ISO	RGD:1354498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:732724	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732724	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732724	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058882	GRIPAP1	GRIP1 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058918	ERCC6L	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606557	D	RGD:9068941	20221006	RGD		mRNA:increased expression:lung (human)	PMID:35150321|REF_RGD_ID:155260359
12058918	ERCC6L	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1606557	D	RGD:9068941	20221006	RGD		mRNA:increased expression:lung (human)	PMID:35150321|REF_RGD_ID:155260359
12058918	ERCC6L	ERCC excision repair 6 like, spindle assembly checkpoint helicase	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1606557	D	RGD:9068941	20221020	RGD		mRNA, protein:increased expression:colorectum (human)	PMID:31289493|REF_RGD_ID:155598681
12058923	MTMR9	myotubularin related protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:735915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058923	MTMR9	myotubularin related protein 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12058923	MTMR9	myotubularin related protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058923	MTMR9	myotubularin related protein 9	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735915	D	RGD:9068941	20230622	RGD		DNA:SNP: :rs2293855 (human)	PMID:21796137|REF_RGD_ID:329853776
12058942	CHRD	chordin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12058942	CHRD	chordin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058942	CHRD	chordin	gene	DOID:10534	stomach cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12058942	CHRD	chordin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058942	CHRD	chordin	gene	DOID:1115	sarcoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058942	CHRD	chordin	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1550370	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
12058942	CHRD	chordin	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1550370	D	RGD:9068941	20220825	MouseDO		OMIM:192430	
12058942	CHRD	chordin	gene	DOID:2394	ovarian cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12058942	CHRD	chordin	gene	DOID:3275	thymoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12058942	CHRD	chordin	gene	DOID:4362	cervical cancer		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12058942	CHRD	chordin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12058942	CHRD	chordin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12058942	CHRD	chordin	gene	DOID:5041	esophageal cancer		ISO	RGD:1348275	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058942	CHRD	chordin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12058942	CHRD	chordin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12058942	CHRD	chordin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12058942	CHRD	chordin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:1115	sarcoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:1324	lung cancer		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:1909	melanoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732069	D	RGD:9068941	20220526	RGD		protein:increased expression: esophagus	PMID:24789592|REF_RGD_ID:152600903
12058984	FAP	fibroblast activation protein alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:732069	D	RGD:9068941	20220526	RGD			PMID:26252379|REF_RGD_ID:152600901
12058984	FAP	fibroblast activation protein alpha	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:732069	D	RGD:9068941	20220526	RGD			PMID:29415055|REF_RGD_ID:152600902
12058984	FAP	fibroblast activation protein alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:732069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12058984	FAP	fibroblast activation protein alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059026	SCAND1	SCAN domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059032	DENND11	DENN domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059032	DENND11	DENN domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059032	DENND11	DENN domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059045	KIAA0825	KIAA0825	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059045	KIAA0825	KIAA0825	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059045	KIAA0825	KIAA0825	gene	DOID:1324	lung cancer		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059045	KIAA0825	KIAA0825	gene	DOID:3275	thymoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059045	KIAA0825	KIAA0825	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059045	KIAA0825	KIAA0825	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1604483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic postaxial polydactyly | ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
12059045	KIAA0825	KIAA0825	gene	DOID:9003540	Postaxial Polydactyly, Type A10		ISO	RGD:1604483	D	RGD:7240710	20190731	OMIM			
12059045	KIAA0825	KIAA0825	gene	DOID:9003540	Postaxial Polydactyly, Type A10		ISO	RGD:1604483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KIAA0825-related condition | ClinVar Annotator: match by term: POLYDACTYLY, POSTAXIAL, TYPE A10 | ClinVar Annotator: match by term: Polydactyly, postaxial, type a10	PMID:25741868|PMID:35886013
12059045	KIAA0825	KIAA0825	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059045	KIAA0825	KIAA0825	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:0070278	primary autosomal recessive microcephaly 7		ISO	RGD:1312720	D	RGD:7240710	20180130	OMIM			
12059087	STIL	STIL centriolar assembly protein	gene	DOID:0070278	primary autosomal recessive microcephaly 7		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 7, primary, autosomal recessive | ClinVar Annotator: match by term: STIL-related condition	PMID:18414213|PMID:19215732|PMID:20301772|PMID:23772360|PMID:24986681|PMID:25741868|PMID:26467025|PMID:26548919|PMID:26633542|PMID:28492532|PMID:33132204
12059087	STIL	STIL centriolar assembly protein	gene	DOID:0080600	COVID-19		ISO	RGD:1312720	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12059087	STIL	STIL centriolar assembly protein	gene	DOID:10534	stomach cancer		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:1059	intellectual disability		ISO	RGD:1312720	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12059087	STIL	STIL centriolar assembly protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:2661	myoepithelioma		ISO	RGD:1312720	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:3275	thymoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12059087	STIL	STIL centriolar assembly protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12059087	STIL	STIL centriolar assembly protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:630	genetic disease		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23772360|PMID:25741868|PMID:26467025|PMID:28492532
12059087	STIL	STIL centriolar assembly protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312720	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:23772360|PMID:25741868|PMID:26467025|PMID:26548919|PMID:28492532
12059087	STIL	STIL centriolar assembly protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059087	STIL	STIL centriolar assembly protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:0112084	nuclear type mitochondrial complex I deficiency 29		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 29	PMID:25741868
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:25741868
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:3275	thymoma		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:9008457	Thrombocytopenia 7		ISO	RGD:1322164	D	RGD:7240710	20210113	OMIM			
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:9008457	Thrombocytopenia 7		ISO	RGD:1322164	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 7 | ClinVar Annotator: match by term: Thrombocytopenia 7	PMID:25741868
12059108	IKZF5	IKAROS family zinc finger 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059120	TMEM119	transmembrane protein 119	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059135	MYCT1	MYC target 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059135	MYCT1	MYC target 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12059135	MYCT1	MYC target 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059135	MYCT1	MYC target 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059135	MYCT1	MYC target 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059157	NDUFB6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:4362	cervical cancer		ISO	RGD:1322768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059157	NDUFB6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1311354	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:20729114|REF_RGD_ID:13801195
12059157	NDUFB6	NADH:ubiquinone oxidoreductase subunit B6	gene	DOID:9970	obesity		ISO	RGD:1311354	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:epididymal fat pad	PMID:20559011|REF_RGD_ID:13822707
12059166	ZNF219	zinc finger protein 219	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059166	ZNF219	zinc finger protein 219	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059166	ZNF219	zinc finger protein 219	gene	DOID:10534	stomach cancer		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059166	ZNF219	zinc finger protein 219	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12059166	ZNF219	zinc finger protein 219	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059166	ZNF219	zinc finger protein 219	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:0112311	male infertility due to acephalic spermatozoa		ISO	RGD:1317565	D	RGD:9068941	20240808	MouseDO			
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:11054	urinary bladder cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:1115	sarcoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:1324	lung cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:1909	melanoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:3070	high grade glioma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:4362	cervical cancer		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:5041	esophageal cancer		ISO	RGD:3566767	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059177	CCDC159	coiled-coil domain containing 159	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3566767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:14753	isovaleric acidemia		ISO	RGD:735606	D	RGD:7240710	20180130	OMIM			
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:14753	isovaleric acidemia		ISO	RGD:735606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA | ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE I | ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE II | ClinVar Annotator: match by term: IVD deficiency | ClinVar Annotator: match by term: Isovaleric acidemia | ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency | ClinVar Annotator: match by term: Isovaleryl-coa dehydrogenase deficiency	PMID:10677295|PMID:10713113|PMID:12767731|PMID:1310317|PMID:15486829|PMID:16199547|PMID:16602101|PMID:16825284|PMID:17001642|PMID:17027310|PMID:17576084|PMID:17576681|PMID:19089597|PMID:19099814|PMID:20519759|PMID:2063866|PMID:22004070|PMID:22350545|PMID:22960500|PMID:2318964|PMID:24019846|PMID:24059531|PMID:24516753|PMID:25220015|PMID:25741868|PMID:26018748|PMID:26589311|PMID:26990548|PMID:27629047|PMID:27904153|PMID:28492532|PMID:28535199|PMID:28631226|PMID:29402417|PMID:30159853|PMID:30838026|PMID:30904546|PMID:30923063|PMID:31442447|PMID:31589614|PMID:31707166|PMID:31856096|PMID:31998365|PMID:32505769|PMID:32778825|PMID:32977617|PMID:33072985|PMID:33123633|PMID:33210480|PMID:33496032|PMID:33521113|PMID:33565069|PMID:33935161|PMID:34394177|PMID:34535384|PMID:34671977|PMID:35095998|PMID:35782626|PMID:35846131|PMID:36636590|PMID:37107695|PMID:37429829|PMID:38061323|PMID:38374194|PMID:38401345|PMID:38484105|PMID:38863445|PMID:39318119|PMID:40459186|PMID:9536098|PMID:9665741
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:735606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:16602101|PMID:25741868|PMID:28492532
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:735606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9002395	Hypothermia		ISO	RGD:735606	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9006253	Ketosis		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketosis	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9007993	Dehydration		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9008617	Lethargy		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12059226	IVD	isovaleryl-CoA dehydrogenase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:735606	D	RGD:9068941	20200609	RGD		isovaleric acidemia, OMIM:243500	PMID:2063866|REF_RGD_ID:1600039
12059241	MIR7-3	microRNA mir-7-3	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2325434	D	RGD:9068941	20240201	RGD		miRNA:increased expression:pituitary gland (rat)	PMID:28710248|REF_RGD_ID:401960105
12059241	MIR7-3	microRNA mir-7-3	gene	DOID:9351	diabetes mellitus	exacerbates	ISO	RGD:2325434	D	RGD:9068941	20230413	RGD		RNA:increased expression:sciatic nerve:	PMID:32544883|REF_RGD_ID:243065126
12059296	MOB3C	MOB kinase activator 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059296	MOB3C	MOB kinase activator 3C	gene	DOID:1909	melanoma		ISO	RGD:1317238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059322	RAB5A	RAB5A, member RAS oncogene family	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1342715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:10286	prostate carcinoma		ISO	RGD:736097	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:12875974|REF_RGD_ID:2291960
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:1115	sarcoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:1324	lung cancer		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:1909	melanoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:3842	D	RGD:9068941	20200609	RGD			PMID:17054309|REF_RGD_ID:2291958
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:3070	high grade glioma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:3275	thymoma		ISO	RGD:736097	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:736097	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:15337562|REF_RGD_ID:2291959
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:6039	uveal melanoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:3842	D	RGD:9068941	20200709	RGD		mRNA,protein:decreased expression:brain	PMID:30226536|REF_RGD_ID:35316073
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:3842	D	RGD:9068941	20200709	RGD			PMID:30226536|REF_RGD_ID:35316073
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3842	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18005084|REF_RGD_ID:2291961
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059348	TMBIM6	transmembrane BAX inhibitor motif containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:1324	lung cancer		ISO	RGD:733121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:733121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:5041	esophageal cancer		ISO	RGD:733121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:708420	D	RGD:9068941	20220707	RGD		mRNA:increased expression:liver (rat)	PMID:19533683|REF_RGD_ID:2315050
12059365	PLCL1	phospholipase C like 1 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733121	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1607063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:0080600	COVID-19		ISO	RGD:1607063	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1607063	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:1909	melanoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:3275	thymoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1607063	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059381	SPATS2L	spermatogenesis associated serine rich 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1602892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30847666|PMID:9536098
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:9536098
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1602892	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:21447824|PMID:22010171|PMID:25741868|PMID:26903377|PMID:28492532|PMID:30282806|PMID:30821013|PMID:30847666|PMID:30975432|PMID:9536098
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1563195	D	RGD:9068941	20200609	RGD			PMID:8557821|REF_RGD_ID:6771380
12059411	RANGRF	RAN guanine nucleotide release factor	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1602892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12059423	LOC480264	magnesium-dependent phosphatase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1601722	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351742	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:10534	stomach cancer		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:1909	melanoma		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059433	SLC35B1	solute carrier family 35 member B1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:11111	hydronephrosis		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:12849	autistic disorder		ISO	RGD:734147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16080114|PMID:16770606
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:12849	autistic disorder		ISO	RGD:734147	D	RGD:9068941	20200609	RGD			PMID:20066485|REF_RGD_ID:6480253
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:12849	autistic disorder		ISO	RGD:734147	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs17599165, rs1912960,rs17599416,rs7660336, rs2280073,rs16859788 (human)	PMID:16770606|REF_RGD_ID:6480254
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:1826	epilepsy		ISO	RGD:734147	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:9004866	Ataxia		ISO	RGD:734147	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16091474
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:9256	colorectal cancer		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12059446	GABRA4	gamma-aminobutyric acid type A receptor subunit alpha4	gene	DOID:963	episodic ataxia		ISO	RGD:734147	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:10283	prostate cancer		ISO	RGD:1314960	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (human)	PMID:22120715|REF_RGD_ID:9586733
12059457	KDM4A	lysine demethylase 4A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314960	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder (human)	PMID:23603248|REF_RGD_ID:9587435
12059457	KDM4A	lysine demethylase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1314960	D	RGD:9068941	20200609	RGD		mRNA:altered expression:breast (human)	PMID:22199269|REF_RGD_ID:9586031
12059457	KDM4A	lysine demethylase 4A	gene	DOID:1909	melanoma		ISO	RGD:1314960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
12059457	KDM4A	lysine demethylase 4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:3070	high grade glioma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314960	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1314960	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:gastric mucosa (human)	PMID:24802408|REF_RGD_ID:9587437
12059457	KDM4A	lysine demethylase 4A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1314961	D	RGD:9068941	20200609	RGD			PMID:21555854|REF_RGD_ID:9587422
12059457	KDM4A	lysine demethylase 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059457	KDM4A	lysine demethylase 4A	gene	DOID:986	alopecia areata		ISO	RGD:1314960	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:21936853|REF_RGD_ID:9587460
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059496	PAXIP1	PAX interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059535	SIRT7	sirtuin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059535	SIRT7	sirtuin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059535	SIRT7	sirtuin 7	gene	DOID:1324	lung cancer		ISO	RGD:1314170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059535	SIRT7	sirtuin 7	gene	DOID:418	systemic scleroderma		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25707573
12059535	SIRT7	sirtuin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059535	SIRT7	sirtuin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059535	SIRT7	sirtuin 7	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28675767
12059535	SIRT7	sirtuin 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24210820
12059557	OR4C3	olfactory receptor family 4 subfamily C member 3	gene	DOID:1059	intellectual disability		ISO	RGD:42723466	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
12059561	SPRY1	sprouty RTK signaling antagonist 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059561	SPRY1	sprouty RTK signaling antagonist 1	gene	DOID:630	genetic disease		ISO	RGD:1319561	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11983899
12059561	SPRY1	sprouty RTK signaling antagonist 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:13938	amenorrhea		ISO	RGD:1625092	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12059570	NCKAP5	NCK associated protein 5	gene	DOID:1909	melanoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1625092	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:576	proteinuria		ISO	RGD:1564507	D	RGD:9068941	20200609	RGD			PMID:21257920|REF_RGD_ID:12798539
12059570	NCKAP5	NCK associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059570	NCKAP5	NCK associated protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10211	cholelithiasis		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholelithiasis	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10534	stomach cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:10907	microcephaly		ISO	RGD:1349345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1115	sarcoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:11383	cryptorchidism		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1324	lung cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1349345	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aase syndrome	PMID:28492532
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1826	epilepsy		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:1909	melanoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:3275	thymoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:4362	cervical cancer		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:543	dystonia		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dystonia	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349345	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349345	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9009169	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA		ISO	RGD:1349345	D	RGD:7240710	20190315	OMIM			
12059594	PLEKHG2	pleckstrin homology and RhoGEF domain containing G2	gene	DOID:9009169	LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA		ISO	RGD:1349345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy and acquired microcephaly with or without dystonia | ClinVar Annotator: match by term: PLEKHG2-related condition	PMID:25741868|PMID:26573021|PMID:28492532|PMID:35203342
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:10534	stomach cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:1115	sarcoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:1324	lung cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:2394	ovarian cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:4362	cervical cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1320045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059625	USP40	ubiquitin specific peptidase 40	gene	DOID:9256	colorectal cancer		ISO	RGD:1320045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	PMID:26328243|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0060180	colitis		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:732861	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: 4h syndrome	PMID:15095295|PMID:21244692|PMID:22114986|PMID:22419737|PMID:22862163|PMID:23552953|PMID:24595525|PMID:25085752|PMID:25186627|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:27443514|PMID:27621404|PMID:27751358|PMID:27779110|PMID:28008555|PMID:28135145|PMID:28492532|PMID:28495237|PMID:28944238|PMID:29368341|PMID:29520813|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30613976|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31341520|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31948886|PMID:32227564|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32881420|PMID:32885271|PMID:32906215|PMID:33030641|PMID:33193653|PMID:33471991|PMID:34072659|PMID:34271781|PMID:34637943|PMID:35128723|PMID:35245693|PMID:35643632|PMID:36136322|PMID:36315097|PMID:37449874|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0080323	pancreatic squamous cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic squamous cell carcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30113427|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37688579|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0111504	Li-Fraumeni syndrome 2		ISO	RGD:732861	D	RGD:7240710	20231004	OMIM			
12059651	CHEK2	checkpoint kinase 2	gene	DOID:0111504	Li-Fraumeni syndrome 2		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17576681|PMID:17698850|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20713355|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26424751|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27720647|PMID:27751358|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29351919|PMID:29356917|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30535581|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30875412|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31993860|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32310333|PMID:32383162|PMID:32443704|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32959997|PMID:32975687|PMID:32980694|PMID:33047316|PMID:33083949|PMID:33257031|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34072659|PMID:34204722|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34404389|PMID:34711244|PMID:34903604|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35957908|PMID:36003761|PMID:36140642|PMID:36243179|PMID:36288950|PMID:36468172|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37352859|PMID:37449874|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38367672|PMID:38476463|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:732861	D	RGD:7240710	20231004	OMIM			
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:732861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29335925|PMID:29351919|PMID:29356917|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29700698|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30826992|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31512090|PMID:31614935|PMID:31780696|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32090079|PMID:32119081|PMID:32183364|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:732861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33077847|PMID:33134171|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34072659|PMID:34130653|PMID:34299313|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:34991090|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36222830|PMID:36360192|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10283	prostate cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer | ClinVar Annotator: match by term: Prostate cancer, susceptibility to | ClinVar Annotator: match by term: Susceptibility to prostate cancer	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12454775|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17698850|PMID:18172190|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19805189|PMID:20713355|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25629968|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27751358|PMID:27798748|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29351919|PMID:29356917|PMID:29470806|PMID:29489754|PMID:29522266|PMID:29659569|PMID:29909568|PMID:29922827|PMID:29978187|PMID:30086788|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31398194|PMID:31874108|PMID:31993860|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32383162|PMID:32522261|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32959997|PMID:33471991|PMID:33558524|PMID:33803639|PMID:33850299|PMID:34282249|PMID:34299313|PMID:34326862|PMID:35264596|PMID:35534704|PMID:35643632|PMID:35674998|PMID:35957908|PMID:35980532|PMID:36140642|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:38367672|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39642869|PMID:39684258|PMID:40283643|PMID:40749126
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20231005	RGD		DNA:mutations: :multiple	PMID:17085682|REF_RGD_ID:2289707
12059651	CHEK2	checkpoint kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16199547|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18004398|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:28888541|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:29922827|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31056428|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31497750|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32658311|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32980694|PMID:33471991|PMID:33558524|PMID:33789101|PMID:34299313|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37688579|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382
12059651	CHEK2	checkpoint kinase 2	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:17918154|REF_RGD_ID:2289704
12059651	CHEK2	checkpoint kinase 2	gene	DOID:11054	urinary bladder cancer	treatment	ISO	RGD:621543	D	RGD:9068941	20200609	RGD			PMID:21396995|REF_RGD_ID:10401655
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:15145354|PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:11830	myopia		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26534844|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:30676620|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639|PMID:34326862|PMID:35245693|PMID:35451682|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37352859|PMID:37449874|PMID:38075165
12059651	CHEK2	checkpoint kinase 2	gene	DOID:12176	goiter		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:13223	uterine fibroid		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine leiomyoma	PMID:15492928|PMID:21244692|PMID:21876083|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:25741868|PMID:26467025|PMID:26534844|PMID:26681312|PMID:27273131|PMID:27751358|PMID:28492532|PMID:30676620|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16883537|PMID:18484200|PMID:21244692|PMID:21618645|PMID:23318652|PMID:23806170|PMID:23960188|PMID:24390236|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26467025|PMID:26787654|PMID:27442652|PMID:27621404|PMID:27751358|PMID:28492532|PMID:28580595|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29667044|PMID:30287823|PMID:30851065|PMID:31472684|PMID:31742824|PMID:32091409|PMID:32521533|PMID:37449874|PMID:40893051
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasms	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28492532|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31844177|PMID:32243226|PMID:32255556|PMID:33670479|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:33670479|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732861	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cancer of multiple types, susceptibility to | ClinVar Annotator: match by term: Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16574953|PMID:16816021|PMID:16835864|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18281249|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22901170|PMID:23296741|PMID:23713947|PMID:24506336|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25085752|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26822949|PMID:26845104|PMID:27153395|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27782108|PMID:27783279|PMID:27878467|PMID:28211887|PMID:28492532|PMID:28727877|PMID:28779002|PMID:28802053|PMID:28873162|PMID:29520813|PMID:29902706|PMID:29958926|PMID:29978187|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30851065|PMID:30927251|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31360903|PMID:31409080|PMID:31447099|PMID:31843900|PMID:31844177|PMID:32243226|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32885271|PMID:33077847|PMID:33670479|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182
12059651	CHEK2	checkpoint kinase 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:30287823|PMID:30851065|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33309985|PMID:33471991|PMID:34204722|PMID:35534704|PMID:35674998|PMID:36315097|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1596	depressive disorder		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32830346|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34903604|PMID:35264596|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34072659|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35626031|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17922014|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25417114|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17922014|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25326637|PMID:25417114|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38061684|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17922014|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25417114|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28386063|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785153|PMID:29875428|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30851065|PMID:30858171|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31871297|PMID:31882575|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32659967|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35127508|PMID:35128723|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35475445|PMID:35495172|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38061684|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11571648|PMID:11719428|PMID:11901158|PMID:12049740|PMID:12454775|PMID:12533788|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15239132|PMID:15492928|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16199547|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:18058223|PMID:18085035|PMID:18281249|PMID:18484200|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19609724|PMID:19782031|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21618645|PMID:21701879|PMID:21778326|PMID:21876083|PMID:22058216|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24082139|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26845104|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28102005|PMID:28135145|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28580595|PMID:28726808|PMID:28779002|PMID:28825054|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29271107|PMID:29338689|PMID:29368341|PMID:29470806|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29667044|PMID:29758562|PMID:29785153|PMID:29922827|PMID:29945567|PMID:30086788|PMID:30128536|PMID:30130155|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30680046|PMID:30851065|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31220302|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31658756|PMID:31742824|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:32091409|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32321774|PMID:32521533|PMID:32546565|PMID:32658311|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33030641|PMID:33128190|PMID:33134171|PMID:33193653|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34026625|PMID:34072659|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34426522|PMID:34433815|PMID:34637943|PMID:34732190|PMID:34903604|PMID:35017683|PMID:35053600|PMID:35089076|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35128723|PMID:35130501|PMID:35132179|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35475445|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36243179|PMID:36315097|PMID:36468172|PMID:36717774|PMID:36744932|PMID:36856935|PMID:37065479|PMID:37310942|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507557|PMID:37628581|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38054408|PMID:38061684|PMID:38075165|PMID:38313678|PMID:38734904|PMID:39029294|PMID:39146382|PMID:39256447|PMID:39541563|PMID:39565531|PMID:39642869|PMID:40893051|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12454775|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29053726|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30086788|PMID:30113427|PMID:30303537|PMID:30322717|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30851065|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31159747|PMID:31214711|PMID:31300551|PMID:31409080|PMID:31447099|PMID:31589614|PMID:31658756|PMID:31784482|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32658311|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33471991|PMID:33606978|PMID:33789101|PMID:33840814|PMID:33919281|PMID:33925588|PMID:34026625|PMID:34072659|PMID:34326862|PMID:34903604|PMID:35017683|PMID:35220195|PMID:35264596|PMID:35314380|PMID:35475445|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36315097|PMID:36551643|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37460928|PMID:37688579|PMID:37725924|PMID:37842866|PMID:38308423|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20231005	RGD		DNA:deletion: ;1100delC	PMID:11967536|REF_RGD_ID:1599601
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20231005	RGD		DNA:loss of heterozygosity	PMID:17145815|REF_RGD_ID:2289706
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20231005	RGD		DNA:missense mutations:p.I157T and p.S428F	PMID:18085035|REF_RGD_ID:2289703
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1614	male breast cancer	no_association	ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:deletion: :1100delC	PMID:17661168|REF_RGD_ID:2289705
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1614	male breast cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:deletion: :1100delC	PMID:11967536|REF_RGD_ID:1599601
12059651	CHEK2	checkpoint kinase 2	gene	DOID:169	neuroendocrine tumor		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neuroendocrine neoplasm	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:16794575|PMID:21244692|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26787654|PMID:26822949|PMID:28492532|PMID:29522266|PMID:30851065|PMID:31050813|PMID:31206626|PMID:31214711|PMID:33471991|PMID:34326862|PMID:34903604|PMID:35534704|PMID:36243179|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1826	epilepsy		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1909	melanoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:1967	leiomyosarcoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leiomyosarcoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:21876083|PMID:24713400|PMID:25741868|PMID:28492532|PMID:34072659|PMID:36717774|PMID:38061684
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2154	nephroblastoma		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:10617473|PMID:11719428|PMID:11967536|PMID:15492928|PMID:18759107|PMID:19030985|PMID:20722467|PMID:21244692|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22520019|PMID:22691310|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23409019|PMID:23415889|PMID:24723567
12059651	CHEK2	checkpoint kinase 2	gene	DOID:219	colon cancer		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:17145815|PMID:21153778|PMID:21681852|PMID:21876083|PMID:24713400|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:27039729|PMID:27510020|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:30851065|PMID:31398194|PMID:31589614|PMID:32658311|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34371384|PMID:34903604|PMID:35264596|PMID:35534704|PMID:35886069|PMID:35896598|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:17145815|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21153778|PMID:21681852|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29785007|PMID:29909568|PMID:30113427|PMID:30264118|PMID:30851065|PMID:31300551|PMID:31398194|PMID:31843900|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32923906|PMID:33471991|PMID:34326862|PMID:34371384|PMID:34903604|PMID:35264596|PMID:35534704|PMID:35674998|PMID:35886069|PMID:35896598|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874|PMID:39590369|PMID:4326862
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2841	asthma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30113427|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37688579|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:19338683|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32906215
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:732861	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12610780|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26084796|PMID:26332814|PMID:26467025|PMID:26506619|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30303537|PMID:30322717|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33789101|PMID:34903604|PMID:35264596|PMID:35314380|PMID:35626031|PMID:35643632|PMID:36222830|PMID:36551643|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:17576681|PMID:17721994|PMID:18172190|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24549055|PMID:24713400|PMID:24728327|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25428789|PMID:25431674|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:27878467|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28874143|PMID:28944238|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30676620|PMID:30851065|PMID:30967556|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31447099|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32310333|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32658311|PMID:32805687|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32980694|PMID:33471991|PMID:33789101|PMID:34008015|PMID:34326862|PMID:34903604|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36140642|PMID:36243179|PMID:36315513|PMID:36468172|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:37688579|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39642869|PMID:39684258|PMID:40749126|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3069	malignant astrocytoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3168	squamous cell neoplasm		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880342
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3308	embryonal carcinoma		ISO	RGD:732861	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:11593395|REF_RGD_ID:2298484
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3347	osteosarcoma		ISO	RGD:732861	D	RGD:7240710	20231004	OMIM			
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3347	osteosarcoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OSTEOSARCOMA, SOMATIC | ClinVar Annotator: match by term: Osteosarcoma, somatic	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17576681|PMID:17698850|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20713355|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29351919|PMID:29356917|PMID:29470806|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29909568|PMID:29922827|PMID:29978187|PMID:30113427|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30535581|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31871109|PMID:31874108|PMID:31948886|PMID:31993860|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32310333|PMID:32383162|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32959997|PMID:32975687|PMID:33047316|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33850299|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34404389|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35957908|PMID:36140642|PMID:36288950|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38367672|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3376	bone osteosarcoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bone osteosarcoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17576681|PMID:17698850|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20713355|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29351919|PMID:29356917|PMID:29470806|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29909568|PMID:29922827|PMID:29978187|PMID:30113427|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30535581|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31871109|PMID:31874108|PMID:31948886|PMID:31993860|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32310333|PMID:32383162|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32959997|PMID:32975687|PMID:33047316|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33850299|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34404389|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35957908|PMID:36140642|PMID:36288950|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38367672|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18058223|PMID:18172190|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27878467|PMID:27900359|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29625052|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30447919|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30875412|PMID:30967556|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31786208|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32598223|PMID:32658311|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32975687|PMID:32980694|PMID:33257031|PMID:33471991|PMID:33479248|PMID:33606978|PMID:33789101|PMID:33803639|PMID:33919281|PMID:34026625|PMID:34072659|PMID:34106577|PMID:34204722|PMID:34326862|PMID:34404389|PMID:34711244|PMID:34903604|PMID:35017683|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35220195|PMID:35264596|PMID:35314380|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35886069|PMID:36011273|PMID:36288950|PMID:36315097|PMID:36468172|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37507557|PMID:37688579|PMID:37839337|PMID:37842866|PMID:38061684|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39029294|PMID:39146382|PMID:39594831|PMID:39778127
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12533788|PMID:12610780|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17721994|PMID:18058223|PMID:18172190|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26424751|PMID:26467025|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27621404|PMID:27751358|PMID:27798748|PMID:27878467|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28873162|PMID:28874143|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29625052|PMID:29684080|PMID:29758562|PMID:29909568|PMID:29909963|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30875412|PMID:30967556|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31589614|PMID:31784482|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32598223|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32975687|PMID:32980694|PMID:33257031|PMID:33471991|PMID:33479248|PMID:33606978|PMID:33789101|PMID:33803639|PMID:34026625|PMID:34072659|PMID:34204722|PMID:34326862|PMID:34404389|PMID:34711244|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35314380|PMID:35467778|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36243179|PMID:36468172|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37688579|PMID:37839337|PMID:37842866|PMID:38091153|PMID:38093606|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382|PMID:39778127
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732861	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:12049740|PMID:12499371|PMID:12533788|PMID:15095295|PMID:16671833|PMID:16794575|PMID:16835864|PMID:16941491|PMID:17576681|PMID:17721994|PMID:19782031|PMID:21244692|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:24713400|PMID:24728327|PMID:24879340|PMID:25085752|PMID:25186627|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25619829|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26580448|PMID:26643872|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:27153395|PMID:27498913|PMID:27553368|PMID:27616075|PMID:27720647|PMID:27751358|PMID:28008555|PMID:28281021|PMID:28486781|PMID:28492532|PMID:28553140|PMID:28580595|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29053726|PMID:29335925|PMID:29406849|PMID:29520813|PMID:29522266|PMID:29667044|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29922827|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31218271|PMID:31300551|PMID:31398194|PMID:31422574|PMID:31780696|PMID:31843900|PMID:31867841|PMID:31871109|PMID:32091409|PMID:32133419|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32832836|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32936981|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33594163|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34128847|PMID:34204722|PMID:34326862|PMID:34371384|PMID:34433815|PMID:34570441|PMID:34903604|PMID:34903606|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35406420|PMID:35418818|PMID:35534704|PMID:35585550|PMID:35643632|PMID:36243179|PMID:36260514|PMID:36315097|PMID:36468172|PMID:37088804|PMID:37449874|PMID:37453313|PMID:37725924|PMID:38091153|PMID:38136308|PMID:39061202|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:12499371|PMID:12533788|PMID:16671833|PMID:16794575|PMID:16835864|PMID:16941491|PMID:17721994|PMID:19782031|PMID:21244692|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:24713400|PMID:24879340|PMID:25085752|PMID:25503501|PMID:25619829|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26643872|PMID:26787654|PMID:26822949|PMID:27553368|PMID:27751358|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29522266|PMID:29667044|PMID:29761796|PMID:29922827|PMID:30093976|PMID:30287823|PMID:30303537|PMID:30333958|PMID:30441849|PMID:30613976|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31780696|PMID:31867841|PMID:31871109|PMID:32091409|PMID:32546565|PMID:32566746|PMID:32832836|PMID:32957588|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33594163|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34128847|PMID:34204722|PMID:34326862|PMID:34570441|PMID:34903604|PMID:34991090|PMID:35406420|PMID:35534704|PMID:36243179|PMID:36315097|PMID:37449874|PMID:39061202
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732861	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:12499371|PMID:12533788|PMID:16671833|PMID:16794575|PMID:16835864|PMID:16941491|PMID:17576681|PMID:17721994|PMID:19782031|PMID:21244692|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:24713400|PMID:24879340|PMID:25085752|PMID:25186627|PMID:25503501|PMID:25619829|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26643872|PMID:26787654|PMID:26822949|PMID:27553368|PMID:27751358|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29522266|PMID:29667044|PMID:29761796|PMID:29785007|PMID:29922827|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30333958|PMID:30441849|PMID:30613976|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31780696|PMID:31843900|PMID:31867841|PMID:31871109|PMID:32091409|PMID:32546565|PMID:32832836|PMID:32906215|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33309985|PMID:33471991|PMID:33594163|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34128847|PMID:34204722|PMID:34326862|PMID:34570441|PMID:34903604|PMID:34991090|PMID:35155181|PMID:35406420|PMID:35534704|PMID:36243179|PMID:36260514|PMID:36315097|PMID:36495689|PMID:37449874|PMID:37453313|PMID:37725924|PMID:38091153|PMID:39061202|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:12499371|PMID:12533788|PMID:16671833|PMID:16794575|PMID:16835864|PMID:16941491|PMID:17576681|PMID:17721994|PMID:19782031|PMID:21244692|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:24713400|PMID:24879340|PMID:25085752|PMID:25186627|PMID:25503501|PMID:25619829|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26643872|PMID:26787654|PMID:26822949|PMID:26976419|PMID:27553368|PMID:27751358|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29522266|PMID:29667044|PMID:29761796|PMID:29785007|PMID:29922827|PMID:30093976|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30333958|PMID:30441849|PMID:30613976|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31218271|PMID:31422574|PMID:31780696|PMID:31843900|PMID:31867841|PMID:31871109|PMID:32091409|PMID:32133419|PMID:32546565|PMID:32832836|PMID:32906215|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33309985|PMID:33471991|PMID:33594163|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34128847|PMID:34204722|PMID:34326862|PMID:34371384|PMID:34570441|PMID:34903604|PMID:34991090|PMID:35155181|PMID:35406420|PMID:35534704|PMID:36243179|PMID:36260514|PMID:36315097|PMID:36495689|PMID:37088804|PMID:37449874|PMID:37453313|PMID:37725924|PMID:38091153|PMID:39061202|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:12499371|PMID:12533788|PMID:16671833|PMID:16794575|PMID:16835864|PMID:16941491|PMID:21244692|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:24713400|PMID:24879340|PMID:25085752|PMID:25503501|PMID:25619829|PMID:25741868|PMID:26424751|PMID:26467025|PMID:26643872|PMID:26787654|PMID:26822949|PMID:27153395|PMID:27553368|PMID:27720647|PMID:27751358|PMID:28492532|PMID:28779002|PMID:28828701|PMID:29522266|PMID:29761796|PMID:29922827|PMID:30093976|PMID:30287823|PMID:30333958|PMID:30441849|PMID:30613976|PMID:30851065|PMID:30982232|PMID:31050813|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31422574|PMID:31871109|PMID:32832836|PMID:32936981|PMID:32957588|PMID:32959997|PMID:33309985|PMID:33471991|PMID:33594163|PMID:33919281|PMID:33925588|PMID:34128847|PMID:34204722|PMID:34326862|PMID:34570441|PMID:34903604|PMID:34991090|PMID:35406420|PMID:35534704|PMID:35643632|PMID:36243179|PMID:36315097|PMID:37449874|PMID:38136308
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:4440	seminoma		ISO	RGD:732861	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:11593395|REF_RGD_ID:2298484
12059651	CHEK2	checkpoint kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Small cell lung carcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5485	synovial sarcoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovial sarcoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30851065|PMID:30975761|PMID:30976395|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:35155181|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35155181|PMID:35264596|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34404389|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34404389|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:36136322|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36988593|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36551643|PMID:36988593|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32975687|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35626031|PMID:35643632|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36360192|PMID:36551643|PMID:36653541|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36315097|PMID:36360192|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36988593|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38153744|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36833268|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:38061684|PMID:38153744|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36653541|PMID:36833268|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38061684|PMID:38153744|PMID:38520597|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34672684|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36623239|PMID:36653541|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37453313|PMID:37490054|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38313678|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27009842|PMID:27028851|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36623239|PMID:36653541|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37449874|PMID:37453313|PMID:37490054|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38313678|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39146382|PMID:39642869|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27009842|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34285288|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34903604|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36479692|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36653541|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37449874|PMID:37453313|PMID:37490054|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135|PMID:38153744|PMID:38313678|PMID:38378842|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39146382|PMID:39642869|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27979560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29596542|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30976395|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34285288|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34903604|PMID:34903606|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36479692|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36653541|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37449874|PMID:37453313|PMID:37490054|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:38153744|PMID:38313678|PMID:38378842|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39146382|PMID:39642869|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26260725|PMID:26270727|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27978560|PMID:27979560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28569743|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29659569|PMID:29667044|PMID:29684080|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33083949|PMID:33128190|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33372680|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606978|PMID:33670479|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34285288|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34903604|PMID:34903606|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36243179|PMID:36260514|PMID:36288950|PMID:36315097|PMID:36360192|PMID:36468172|PMID:36479692|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36653541|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37449874|PMID:37453313|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38054408|PMID:38061684|PMID:38075165|PMID:38091153
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:38093606|PMID:38097135|PMID:38153744|PMID:38313678|PMID:38378842|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39029294|PMID:39061202|PMID:39146382|PMID:39642869|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12690581|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15818573|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17576681|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21681852|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27442652|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27711073|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28051113|PMID:28102005|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29758562|PMID:29785007|PMID:29909568|PMID:29922827|PMID:30086788|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32321774|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33047316|PMID:33083949|PMID:33372680|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34106577|PMID:34250417|PMID:34285288|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35643632|PMID:35734982|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36035419|PMID:36222830|PMID:36243179
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:36288950|PMID:36315097|PMID:36468172|PMID:36529819|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37352859|PMID:37449874|PMID:37507557|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38332730|PMID:38734904|PMID:39029294|PMID:39146382|PMID:39541563|PMID:39565531|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39778127|PMID:40283643|PMID:40893051|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12454775|PMID:12533788|PMID:12909615|PMID:15060014|PMID:15239132|PMID:15361853|PMID:15492928|PMID:15818573|PMID:16199547|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17576681|PMID:18004398|PMID:18058223|PMID:18484200|PMID:18571837|PMID:18725978|PMID:18996005|PMID:19782031|PMID:21244692|PMID:21618645|PMID:21681852|PMID:21876083|PMID:21963792|PMID:22114986|PMID:22419737|PMID:23318652|PMID:23334666|PMID:23806170|PMID:23960188|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25503501|PMID:25629968|PMID:25741868|PMID:25884806|PMID:25980754|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26644315|PMID:26681312|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27067391|PMID:27273131|PMID:27433846|PMID:27442652|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27751358|PMID:27779110|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28051113|PMID:28102005|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28486781|PMID:28492532|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28779002|PMID:28825054|PMID:28873162|PMID:28888541|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29470806|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29667044|PMID:29758562|PMID:29785007|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30262796|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30374176|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30851065|PMID:30875412|PMID:30975761|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31874108|PMID:31948886|PMID:31980526|PMID:32019284|PMID:32068069|PMID:32091409|PMID:32310333|PMID:32321774|PMID:32521533|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33047316|PMID:33050356|PMID:33083949|PMID:33128190|PMID:33134171|PMID:33257031|PMID:33372680|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34072659|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34285288|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35350808|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35734982|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36011273|PMID:36035419|PMID:36243179|PMID:36260514|PMID:36288950|PMID:36315097|PMID:36468172|PMID:36495689|PMID:36529819|PMID:36551643|PMID:36833268|PMID:36988593|PMID:37352859|PMID:37449874|PMID:37453313|PMID:37507557|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38313678|PMID:38332730|PMID:38734904|PMID:39029294|PMID:39146382|PMID:39256447|PMID:39541563|PMID:39565531|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39778127|PMID:40283643|PMID:40893051|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:21244692|PMID:21681852|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23555315|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25431674|PMID:25452441|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28102005|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:29146883|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29625052|PMID:29684080|PMID:29758562|PMID:29785007|PMID:29909568|PMID:29909963|PMID:29922827|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30875412|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31874108|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32119081|PMID:32285038|PMID:32310333|PMID:32321774|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33047316|PMID:33083949|PMID:33257031|PMID:33372680|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606978|PMID:33789101|PMID:33803639|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34072659|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34285288|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:34933735|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:36011273|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36468172|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37352859|PMID:37449874|PMID:37507557|PMID:37688579|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38308423|PMID:38332730|PMID:38496821|PMID:38520597|PMID:38523675|PMID:38734904|PMID:39029294|PMID:39146382|PMID:39541563|PMID:39565531|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39778127|PMID:40283643|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15810020|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20417869|PMID:21244692|PMID:21562711|PMID:21681852|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23334666|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26976419|PMID:27028851|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27708748|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27852271|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30256826|PMID:30262796|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30426508|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31465090|PMID:31497750|PMID:31589614|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31867841|PMID:31874108|PMID:31948886|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32761968|PMID:32805687|PMID:32824581|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33030641|PMID:33047316|PMID:33077847|PMID:33083949|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33326660|PMID:33372680|PMID:33471991
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33479248|PMID:33558524|PMID:33606978|PMID:33726816|PMID:33758026|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34072659|PMID:34204722|PMID:34271781|PMID:34285288|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34570182|PMID:34637943|PMID:34711244|PMID:34903604|PMID:34992046|PMID:35039564|PMID:35128723|PMID:35132179|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35866394|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36136322|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36468172|PMID:36551643|PMID:36623239|PMID:36744932|PMID:36833268|PMID:36856935|PMID:36980535|PMID:36988593|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37352859|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37839337|PMID:37842866|PMID:37932350|PMID:38054408|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38308423|PMID:38332730|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39146382|PMID:39541563|PMID:39590369|PMID:39642869|PMID:39778127|PMID:40283643|PMID:4326862|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:732861	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:heart myocardium	PMID:12702777|REF_RGD_ID:2289708
12059651	CHEK2	checkpoint kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:28152038|PMID:28492532|PMID:28873162|PMID:29522266|PMID:29978187|PMID:33471991|PMID:33850299
12059651	CHEK2	checkpoint kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059651	CHEK2	checkpoint kinase 2	gene	DOID:769	neuroblastoma		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334666
12059651	CHEK2	checkpoint kinase 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26534844|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:30676620|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639|PMID:34326862|PMID:35245693|PMID:35451682|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37352859|PMID:37449874|PMID:38075165
12059651	CHEK2	checkpoint kinase 2	gene	DOID:824	periodontitis		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic myeloid leukemia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:8923	skin melanoma		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000357	Male Breast Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11967536
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000466	Prostate Cancer, Somatic		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Prostate cancer, somatic	PMID:12533788|PMID:16835864|PMID:16941491|PMID:18058223|PMID:18996005|PMID:19782031|PMID:22419737|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28125078|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29520813|PMID:29522266|PMID:30287823|PMID:30851065|PMID:31050813|PMID:31409080|PMID:32906206|PMID:32923877|PMID:32980694|PMID:33471991|PMID:34711244|PMID:36468172|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intestinal polyp	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002265	Kidney Neoplasms	onset	ISO	RGD:621543	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney outer medulla outer stripe (rat)	PMID:22411272|REF_RGD_ID:10401643
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12533788
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16880452|PMID:16883537|PMID:17085682|PMID:18172190|PMID:18381420|PMID:18484200|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23469205|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24713400|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26467025|PMID:26787654|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27621404|PMID:27711073|PMID:27751358|PMID:27798748|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29522266|PMID:29667044|PMID:29909568|PMID:30287823|PMID:30851065|PMID:31300551|PMID:31472684|PMID:31742824|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:33471991|PMID:35534704|PMID:36222830|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:16883537|PMID:17085682|PMID:18172190|PMID:18484200|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27621404|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29522266|PMID:29667044|PMID:29909568|PMID:30113427|PMID:30287823|PMID:30851065|PMID:31300551|PMID:31472684|PMID:31742824|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874|PMID:40893051
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity	PMID:17145815|REF_RGD_ID:2289706
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.I157T	PMID:16828850|REF_RGD_ID:2298482
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9003126	Hallucinations		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	RGD			PMID:18299147|REF_RGD_ID:2296067
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9004265	Endometrioid Carcinomas	susceptibility	ISO	RGD:732861	D	RGD:9068941	20200609	RGD			PMID:17164260|REF_RGD_ID:2293868
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880342
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary Prostate Cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17100999|PMID:17576681|PMID:17698850|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20713355|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27616075|PMID:27621404|PMID:27751358|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28944238|PMID:29351919|PMID:29356917|PMID:29470806|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29909568|PMID:29922827|PMID:29978187|PMID:30113427|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30344923|PMID:30535581|PMID:30613976|PMID:30676620|PMID:30851065|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31206626|PMID:31214711|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31497750|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31871109|PMID:31874108|PMID:31948886|PMID:31993860|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32310333|PMID:32383162|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32959997|PMID:32975687|PMID:33047316|PMID:33471991|PMID:33558524|PMID:33606978|PMID:33803639|PMID:33850299|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34404389|PMID:34903604|PMID:35220195|PMID:35264596|PMID:35467778|PMID:35534704|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35957908|PMID:36140642|PMID:36288950|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38091153|PMID:38093606|PMID:38153744|PMID:38367672|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:9536098
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:252A>G	PMID:11875739|REF_RGD_ID:2298483
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:621543	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle (rat)	PMID:25129990|REF_RGD_ID:10400905
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer	PMID:26328243|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9006911	Congenital Heart Defects, Multiple Types, 3		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHTD3	PMID:21876083|PMID:24713400|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27751358|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29356917|PMID:29922827|PMID:30287823|PMID:30303537|PMID:32658311|PMID:33558524|PMID:34299313|PMID:36988593
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:21876083|PMID:24713400|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32531112|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32906215|PMID:32923877|PMID:32957588|PMID:3313277|PMID:33134171|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33558524|PMID:33670479|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33986034|PMID:34008015|PMID:34371384|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34903604|PMID:35155181|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26296696|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23298314|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23381312|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:2723131|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28608266
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30192042|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34903604|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35467778|PMID:35643632|PMID:35980532|PMID:36011273|PMID:36136322|PMID:36315513|PMID:36988593|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26332814|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26641009|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28104920|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28553140|PMID:28555940|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29560538|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34282249|PMID:34299313|PMID:34308366|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34622392|PMID:34711244|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34991090|PMID:35127508|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35406420|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36243179
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36288950|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36551643|PMID:36988593|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36551643|PMID:36845387|PMID:36988593|PMID:37449874|PMID:37490054|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34570182|PMID:34606182
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38153744|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38153744|PMID:38520597|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36845387|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38153744|PMID:38520597|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35155181|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35886069|PMID:35896598|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36653541|PMID:36717774|PMID:36833268|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37373225|PMID:37449874|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37725924|PMID:37842866|PMID:38061684|PMID:38153744|PMID:38520597|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14568168|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15385111|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:20967229|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25382819|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32373528|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32620917|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33298767|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34887416|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35017683|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36179682|PMID:36200007|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36623239|PMID:36653541|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36898365|PMID:36922933|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37373225|PMID:37449874|PMID:37453313|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38136308|PMID:38153744|PMID:38201513|PMID:38313678|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39088769|PMID:39146382|PMID:39642869|PMID:4326862|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29053726|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32373528|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32620917|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33298767|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34282249|PMID:34285288|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34887416|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35017683|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36179682|PMID:36200007|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36479692|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36653541|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36898365|PMID:36922933|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37373225|PMID:37449874|PMID:37453313|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135|PMID:38136308|PMID:38153744|PMID:38201513|PMID:38313678|PMID:38378842|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39088769|PMID:39146382|PMID:39148954|PMID:39642869|PMID:4326862|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15818573|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16794575|PMID:16798742|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17698850|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20019687|PMID:20713355|PMID:20967229|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22419737|PMID:22527104|PMID:22811390|PMID:22994785|PMID:23058106|PMID:23109706|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23652375|PMID:23776527|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24549055|PMID:24556621|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27711073|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28051113|PMID:28082821|PMID:28102005|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28580595|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29271107|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29978187|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30902968|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31248605|PMID:31263054|PMID:31300551|PMID:31325073|PMID:31349801|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31871109|PMID:31871297
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31874108|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32321774|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:33011440|PMID:33026450|PMID:33083949|PMID:33099347|PMID:33193653|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33803639|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34282249|PMID:34299313|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:34926252|PMID:34991090|PMID:35017683|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35118230|PMID:35127508|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35696850|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36113475|PMID:36139606|PMID:36140642|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36568162|PMID:36623239|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37262986|PMID:37306523|PMID:37352859|PMID:37448974|PMID:37449874|PMID:37460928|PMID:37507557|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38115798|PMID:38136308|PMID:38153744|PMID:38332730|PMID:38476463|PMID:38734904|PMID:39029294|PMID:39096151|PMID:39146382|PMID:39148954|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39565531|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:40893051|PMID:4326862|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12442270|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16798742|PMID:16835864|PMID:16880452|PMID:16897426|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18297428|PMID:18381420|PMID:18644861|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20019687|PMID:20713355|PMID:20967229|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21562711|PMID:21681852|PMID:21765476|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22138346|PMID:22419737|PMID:22527104|PMID:22811390|PMID:22994785|PMID:23058106|PMID:23109706|PMID:23334666|PMID:23555315|PMID:23652375|PMID:23776527|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26094658|PMID:26467025|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27878467|PMID:27900359|PMID:27978560|PMID:28082821|PMID:28102005|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28580595|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29271107|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29978187|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30875412|PMID:30902968|PMID:30967556|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31248605|PMID:31263054|PMID:31300551|PMID:31325073|PMID:31349801|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31650100|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31942411|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32039725|PMID:32068069
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32119081|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32310333|PMID:32321774|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:32980964|PMID:33011440|PMID:33026450|PMID:33047316|PMID:33083949|PMID:33099347|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33789101|PMID:33803639|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34711244|PMID:34903604|PMID:34926252|PMID:34933735|PMID:34991090|PMID:35017683|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35118230|PMID:35127508|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35696850|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36113475|PMID:36140642|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37306523|PMID:37352859|PMID:37448974|PMID:37449874|PMID:37460928|PMID:37507557|PMID:37563628|PMID:37688579|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38332730|PMID:38362852|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:38734904|PMID:39029294|PMID:39096151|PMID:39146382|PMID:39208550|PMID:39356959|PMID:39492936|PMID:39541563|PMID:39565531|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40403485|PMID:40749126|PMID:4326862|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12442270|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15818573|PMID:16199547|PMID:16492927|PMID:16794575|PMID:16798742|PMID:16835864|PMID:16880452|PMID:16897426|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18297428|PMID:18381420|PMID:18644861|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18834326|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20019687|PMID:20713355|PMID:20967229|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21562711|PMID:21681852|PMID:21765476|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22419737|PMID:22527104|PMID:22811390|PMID:22994785|PMID:23058106|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23776527|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24686850|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25382819|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25980754|PMID:26014596|PMID:26084796|PMID:26424751|PMID:26467025|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28580595|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29271107|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29978187|PMID:30054569|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30344923|PMID:30441849|PMID:30535581|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30680046|PMID:30826992|PMID:30851065|PMID:30875412|PMID:30902968|PMID:30967556|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31054147|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31300551|PMID:31325073|PMID:31349801|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31465090|PMID:31497750|PMID:31589614|PMID:31650100|PMID:31658756|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31942411|PMID:31948886|PMID:31993860|PMID:32068069|PMID:32119081|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:33011440|PMID:33026450|PMID:33047316|PMID:33083949|PMID:33099347|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33789101|PMID:33803639|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34711244|PMID:34903604|PMID:34926252|PMID:34991090|PMID:35017683|PMID:35118230|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35696850|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36113475|PMID:36140642|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37306523|PMID:37352859|PMID:37449874|PMID:37460928|PMID:37563628|PMID:37688579|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38332730|PMID:38367672|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39096151|PMID:39146382|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39590369|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:4326862|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9007736	Vertigo		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	PMID:28492532
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008421	Epistaxis		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12690581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16880452|PMID:16883537|PMID:16914568|PMID:17085682|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22862163|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24390236|PMID:24506336|PMID:24595525|PMID:24713400|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26270727|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26787654|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27621404|PMID:27711073|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27806230|PMID:28008555|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29667044|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30613976|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31472684|PMID:31742824|PMID:31784482|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32881420|PMID:32885271|PMID:32906215|PMID:33030641|PMID:33193653|PMID:33471974|PMID:33471991|PMID:34072659|PMID:34271781|PMID:34622392|PMID:34637943|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:10617473|PMID:11053450|PMID:11479205|PMID:11719428|PMID:11967536|PMID:12094328|PMID:12533788|PMID:12690581|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16257342|PMID:16492927|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:17085682|PMID:18172190|PMID:18381420|PMID:18484200|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21618645|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23318652|PMID:23469205|PMID:23652375|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25884806|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27442652|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27711073|PMID:27751358|PMID:27779110|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28825054|PMID:28873162|PMID:28874143|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29522266|PMID:29555771|PMID:29667044|PMID:29909568|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30676620|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31220302|PMID:31300551|PMID:31398194|PMID:31472684|PMID:31742824|PMID:31786208|PMID:31980526|PMID:31993860|PMID:32091409|PMID:32119081|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32566746|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32923877|PMID:33471991|PMID:33606978|PMID:33803639|PMID:33919281|PMID:34106577|PMID:34326862|PMID:34903604|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35534704|PMID:36011273|PMID:36222830|PMID:36315097|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37507557|PMID:38061684|PMID:39029294|PMID:40893051
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21244692|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26534844|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30303537|PMID:30676620|PMID:30875412|PMID:31050813|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639|PMID:35534704|PMID:35626031|PMID:35643632|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14568168|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15385111|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28125078
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28818680|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31721094|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32373528|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32620917|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33298767|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34271781|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34887416|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36179682|PMID:36200007|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36623239|PMID:36653541|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36898365|PMID:36922933|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37373225|PMID:37449874|PMID:37453313|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38136308|PMID:38153744|PMID:38313678|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39088769|PMID:39146382|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10617473|PMID:10973490|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11699418|PMID:11719428|PMID:11733767|PMID:11746983|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12052256|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12499371|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14568168|PMID:14612911|PMID:14618615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14681223|PMID:14687034|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15145354|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15385111|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:15942682|PMID:16080966|PMID:16199547|PMID:16257342|PMID:16481012|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16671833|PMID:16794575|PMID:16798742|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17178848|PMID:17517688|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:17922014|PMID:18004398|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19656415|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20019687|PMID:20223004|PMID:20307669|PMID:20417869|PMID:20643596|PMID:20713355|PMID:20722467|PMID:21059199|PMID:21153778|PMID:21244692|PMID:21348412|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21701879|PMID:21744992|PMID:21765476|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21907711|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22090377|PMID:22114986|PMID:22138346|PMID:22406018|PMID:22419737|PMID:22527104|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:22995991|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23911319|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24123366|PMID:24356096|PMID:24390236|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24628946|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25231023|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25417114|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25619829|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26023681|PMID:26083025|PMID:26084796|PMID:26094658|PMID:26206375|PMID:26219265|PMID:26260725|PMID:26270727|PMID:26328243|PMID:26424751|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26484312|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26643872|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26752676|PMID:26757417|PMID:26786923|PMID:26787654|PMID:2681983|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27039729|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27510020|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27852271|PMID:27878467|PMID:27900359|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28125078|PMID:28135048|PMID:28135139|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28281021|PMID:28371217|PMID:28386063|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28541631|PMID:28553140|PMID:28555940|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28818680|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29021619|PMID:29053726|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29271107|PMID:29335925|PMID:29338689|PMID:29351919|PMID:29356917|PMID:2936834|PMID:29368341|PMID:29406849|PMID:29439820|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29484706|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29684080|PMID:29700698|PMID:29703253|PMID:29731985|PMID:29747023|PMID:29752822|PMID:29758562|PMID:29761796|PMID:29785007|PMID:29785153|PMID:29866652|PMID:29875428|PMID:29879026|PMID:29902706|PMID:29909568|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:29987844|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30130155|PMID:30152102|PMID:30256826|PMID:30262796|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30322893|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30687805|PMID:30706980|PMID:30730459|PMID:30826992|PMID:30833958|PMID:30851065|PMID:30858171|PMID:30875412|PMID:30902968|PMID:30927251|PMID:30967556|PMID:30975761|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31090900|PMID:31118792|PMID:31159747|PMID:31173646|PMID:31206626|PMID:31209362|PMID:31214250|PMID:31214711|PMID:31218271|PMID:31220302|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31325073|PMID:31341520|PMID:31349801|PMID:31358837|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31415627|PMID:31422574|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31512090|PMID:31589614|PMID:31614935|PMID:31650100|PMID:31650731|PMID:31658756|PMID:31721094|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31811167|PMID:31843900|PMID:31844177|PMID:31867841|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32019284|PMID:32029870|PMID:32039725|PMID:32041497|PMID:32068069|PMID:32090079|PMID:32091409|PMID:32095738|PMID:32119081|PMID:32133419|PMID:32183364|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32283892|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32318955|PMID:32338768|PMID:32373528|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32620917|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32900738|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32975687|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33030641|PMID:33050356|PMID:33077847|PMID:33099347|PMID:33120919|PMID:33128190|PMID:3313277|PMID:33134171|PMID:33158149|PMID:33179747|PMID:33193653|PMID:33257031|PMID:33260537|PMID:33298767|PMID:33309985|PMID:33326660|PMID:33332384|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33563768|PMID:33594163|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:33850299|PMID:33919281|PMID:33925588|PMID:33939675|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34271781|PMID:34282249|PMID:34285288|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34426522|PMID:34433815|PMID:34570182|PMID:34606182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34672684|PMID:34711244|PMID:34732190|PMID:34771502|PMID:34884835|PMID:34887416|PMID:34903604|PMID:34907112|PMID:34926252|PMID:34933735|PMID:34991090|PMID:34992046|PMID:35017683|PMID:35053600|PMID:35089076|PMID:35118230|PMID:35127508|PMID:35128723|PMID:35132179|PMID:35155181|PMID:35174967|PMID:35218119|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35314380|PMID:35350808|PMID:35402282|PMID:35406420|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35866394|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36136322|PMID:36139606|PMID:36179682|PMID:36200007|PMID:36222830|PMID:36232564|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36360192|PMID:36446039|PMID:36468172|PMID:36479692|PMID:36521553|PMID:36529819|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36653541|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36833268|PMID:36845387|PMID:36856935|PMID:36898365|PMID:36922933|PMID:36988593|PMID:37031196|PMID:37055167|PMID:37065479|PMID:37088804|PMID:37149759|PMID:37239058|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37373225|PMID:37449874|PMID:37453313|PMID:37460928|PMID:37490054|PMID:37507074|PMID:37628581|PMID:37688579|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135|PMID:38136308|PMID:38153744|PMID:38201513|PMID:38313678|PMID:38378842|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39061202|PMID:39088769|PMID:39146382|PMID:39148954|PMID:39642869|PMID:4326862|PMID:914197|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10617473|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11733767|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12442270|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15060014|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15818573|PMID:16199547|PMID:16257342|PMID:16481012|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16897426|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17698850|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18297428|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18644861|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20019687|PMID:20307669|PMID:20713355|PMID:21153778|PMID:21244692|PMID:21562711|PMID:21618645|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22406018|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22994785|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24390236|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25155515|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25452441|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25640679|PMID:25741868|PMID:25884806|PMID:2598075|PMID:25980754|PMID:26014596|PMID:26022348|PMID:26084796|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27498913|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27711073|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27878467|PMID:2797856|PMID:27978560|PMID:28051113|PMID:28082821|PMID:28102005|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28802053|PMID:28818680|PMID:28825054|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29338689|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29555771|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29731985|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29978187|PMID:30067863|PMID:30086788|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30447919|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30851065|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31220302|PMID:31248605|PMID:31300551|PMID:31349801|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31497750
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:31512090|PMID:31589614|PMID:31650731|PMID:31658756|PMID:31721094|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31786208|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31942411|PMID:31980526|PMID:31993860|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32321774|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32521533|PMID:32522261|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32761968|PMID:32773770|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:33026450|PMID:33083949|PMID:33099347|PMID:33193653|PMID:33298767|PMID:33309985|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34106577|PMID:34204722|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34433815|PMID:34549727|PMID:34711244|PMID:34887416|PMID:34903604|PMID:35053600|PMID:35101071|PMID:35101336|PMID:35127508|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35734982|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36035419|PMID:36139606|PMID:36140642|PMID:36222830|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36468172|PMID:36529819|PMID:36568162|PMID:36623239|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36804482|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37262986|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37436117|PMID:37448974|PMID:37449874|PMID:37460928|PMID:37507557|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38002677|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135|PMID:38115798|PMID:38136308|PMID:38153744|PMID:38332730|PMID:38355628|PMID:38476463|PMID:38734904|PMID:39029294|PMID:39096151|PMID:39146382|PMID:39148954|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39565531|PMID:39582020|PMID:39590369|PMID:39594831|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:40893051|PMID:4326862|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10617473|PMID:11053450|PMID:11085506|PMID:11298456|PMID:11390408|PMID:11571648|PMID:11719428|PMID:11733767|PMID:11901158|PMID:11967536|PMID:12049740|PMID:123456|PMID:1234564|PMID:12442270|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12805407|PMID:12855706|PMID:12909615|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15279791|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15535844|PMID:15649950|PMID:15818573|PMID:16199547|PMID:16481012|PMID:16492927|PMID:16551709|PMID:16794575|PMID:16835864|PMID:16880452|PMID:16897426|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17095602|PMID:17100999|PMID:17145815|PMID:17576681|PMID:17698850|PMID:17721994|PMID:17918214|PMID:18004398|PMID:18058223|PMID:18172190|PMID:18297428|PMID:18644861|PMID:18725978|PMID:18759107|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19763152|PMID:19768534|PMID:19782031|PMID:19805189|PMID:20019687|PMID:20307669|PMID:20713355|PMID:21153778|PMID:21244692|PMID:21562711|PMID:21681852|PMID:21744992|PMID:21765476|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:21963792|PMID:22006311|PMID:22058216|PMID:22058428|PMID:2206311|PMID:22114986|PMID:22406018|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22994785|PMID:23058106|PMID:23109706|PMID:23296741|PMID:23334666|PMID:23652375|PMID:23713947|PMID:23776527|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24082139|PMID:24113346|PMID:24549055|PMID:24556621|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24879340|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25428789|PMID:25431674|PMID:25452411|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25640679|PMID:25741868|PMID:2598075|PMID:25980754|PMID:26014596|PMID:26022348|PMID:26084796|PMID:26424751|PMID:26467025|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26786923|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26898890|PMID:26911350|PMID:26921362|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27498913|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27696107|PMID:27716909|PMID:27720647|PMID:27751358|PMID:27779110|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28082821|PMID:28125075|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28608266|PMID:28709830|PMID:28724667|PMID:28727877|PMID:28734145|PMID:28743916|PMID:28779002|PMID:28783718|PMID:28802053|PMID:28818680|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28944238|PMID:29020732|PMID:29146883|PMID:29351919|PMID:29356917|PMID:29368341|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29479983|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29625052|PMID:29659569|PMID:29684080|PMID:29731985|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29909568|PMID:29909963|PMID:29922827|PMID:29945567|PMID:29978187|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30113427|PMID:30128536|PMID:30262796|PMID:30264118|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30333958|PMID:30344923|PMID:30374176|PMID:30441849|PMID:30535581|PMID:30580288|PMID:30613976|PMID:30651582|PMID:30676620|PMID:30680046|PMID:30730459|PMID:30826992|PMID:30851065|PMID:30875412|PMID:30927251|PMID:30967556|PMID:30980208|PMID:30982232|PMID:31036035|PMID:31050813|PMID:31056428|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31248605|PMID:31300551|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31497750|PMID:31589614|PMID:31650731|PMID:31658756|PMID:31721094|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31871109|PMID:31871297|PMID:31874108|PMID:31942411|PMID:31948886|PMID:31993860|PMID:32039725|PMID:32068069|PMID:32119081|PMID:32255556|PMID:32285038|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32427313|PMID:32443704|PMID:32522261
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32531112|PMID:32546565|PMID:32598223|PMID:32658311|PMID:32663328|PMID:32761968|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32906215|PMID:32923877|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32959997|PMID:32975687|PMID:32980694|PMID:33026450|PMID:33047316|PMID:33083949|PMID:33099347|PMID:33193653|PMID:33257031|PMID:33309985|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33606978|PMID:33646313|PMID:33789101|PMID:33803639|PMID:33804961|PMID:33840814|PMID:33850299|PMID:33919281|PMID:33925588|PMID:33980423|PMID:33986034|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34072659|PMID:34204722|PMID:34282249|PMID:34299313|PMID:34308104|PMID:34326862|PMID:34371384|PMID:34404389|PMID:34549727|PMID:34711244|PMID:34887416|PMID:34903604|PMID:35101336|PMID:35127508|PMID:35220195|PMID:35245693|PMID:35264596|PMID:35314380|PMID:35418818|PMID:35441217|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534704|PMID:35585550|PMID:35626031|PMID:35643632|PMID:35674998|PMID:35884425|PMID:35886069|PMID:35896598|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36139606|PMID:36140642|PMID:36243179|PMID:36288950|PMID:36315097|PMID:36315513|PMID:36468172|PMID:36551643|PMID:36568162|PMID:36623239|PMID:36655350|PMID:36717774|PMID:36744932|PMID:36804482|PMID:36833268|PMID:36988593|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37277882|PMID:37306523|PMID:37352859|PMID:37436117|PMID:37449874|PMID:37460928|PMID:37563628|PMID:37688579|PMID:37725924|PMID:37839337|PMID:37842866|PMID:38061684|PMID:38075165|PMID:38091153|PMID:38093606|PMID:38097135|PMID:38136308|PMID:38153744|PMID:38308423|PMID:38332730|PMID:38355628|PMID:38367672|PMID:38476463|PMID:38496821|PMID:38520597|PMID:38523675|PMID:39096151|PMID:39146382|PMID:39148954|PMID:39208550|PMID:39492936|PMID:39541563|PMID:39582020|PMID:39590369|PMID:39642869|PMID:39684258|PMID:39778127|PMID:40283643|PMID:40749126|PMID:4326862|PMID:9536098|PMID:9836640
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:22006311|PMID:2206311|PMID:22419737|PMID:25428789|PMID:25741868|PMID:25980754|PMID:26467025|PMID:28492532|PMID:28779002|PMID:28944238|PMID:30287823|PMID:31214711|PMID:32546565|PMID:32906215|PMID:32980694|PMID:33471991|PMID:35245693|PMID:36243179|PMID:36315513|PMID:37449874|PMID:39146382
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:15492928|PMID:21244692|PMID:21876083|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:25741868|PMID:26467025|PMID:26534844|PMID:26681312|PMID:27273131|PMID:27751358|PMID:28492532|PMID:30676620|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30976395|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:33670479|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:17085682|PMID:17517688|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725978|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23713947|PMID:23946381|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25431674|PMID:25503501|PMID:25583358|PMID:25741868|PMID:25798211|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26467025|PMID:26483394|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26787654|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29785153|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:31050813|PMID:31159747|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31447099|PMID:31784482|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32383162|PMID:32531112|PMID:32830346|PMID:33471991|PMID:33670479|PMID:33986034|PMID:35264596
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:36136322
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26641009|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28104920|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28981386|PMID:29146883|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29560538|PMID:29625052|PMID:29659569|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30309722|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33077847|PMID:33158149|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33986034|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:35643632|PMID:36136322
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:34308366|PMID:34570182|PMID:34622392|PMID:34903604|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:37449874|PMID:37490054
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34570182|PMID:34622392|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16551709|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16914568|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18484200|PMID:18571837|PMID:18706089|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26083025|PMID:26084796|PMID:26270727|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26641009|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822237|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27806230|PMID:27878467|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135139|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:28981386|PMID:29020732|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29785153|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30152102|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31980526|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33471974|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34622392|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23329222|PMID:23334666|PMID:23415889|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24723567|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26332814|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29095881|PMID:29146883|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:33077847|PMID:3313277|PMID:33158149|PMID:33193653|PMID:33326660|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29095881|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33158149|PMID:33193653|PMID:33326660
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:33326660|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33803639|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34008015|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35643632|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36988593|PMID:37055167|PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29095881|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33158149|PMID:33193653
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12454775|PMID:12533788|PMID:12610780|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15810020|PMID:15818573|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16883537|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18058223|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18484200|PMID:18571837|PMID:18725878|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21618645|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23318652|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23806170|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24113346|PMID:24390236|PMID:24506336|PMID:24556621|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24763289|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25629968|PMID:25741868|PMID:25798211|PMID:25884806|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27273131|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27442652|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27553368|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28082821|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28709830|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:28961279|PMID:29020732|PMID:29095881|PMID:29212164|PMID:29338689|PMID:29351919|PMID:29368341|PMID:29439820|PMID:29470806|PMID:29489754|PMID:29506128|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29667044|PMID:29752822|PMID:29758562|PMID:29785007|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30067863|PMID:30128536|PMID:30256826|PMID:30264118|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30666157|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31090900|PMID:31159747|PMID:31206626|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31472684|PMID:31614935|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32310333|PMID:32338768|PMID:32383162|PMID:32521533|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32832836|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33158149|PMID:33193653
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18571837|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29095881|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29752822|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33193653|PMID:33298767|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35132179|PMID:35174967|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35534704|PMID:35643632|PMID:35866394|PMID:35980532|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36623239|PMID:36744932|PMID:36856935|PMID:36988593|PMID:37055167|PMID:37065479
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38075165
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18571837|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27534895|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29095881|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29752822|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30113427|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33193653|PMID:33298767|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35132179|PMID:35174967|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35534704|PMID:35643632|PMID:35866394|PMID:35980532|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36623239|PMID:36744932|PMID:36856935|PMID:36988593
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:37055167|PMID:37065479|PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38075165
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11298456|PMID:11390408|PMID:11461078|PMID:11479205|PMID:11571648|PMID:11719428|PMID:11901158|PMID:11967536|PMID:12049740|PMID:12094328|PMID:12533788|PMID:12690581|PMID:12805407|PMID:14648717|PMID:14648718|PMID:14648719|PMID:14687034|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15466005|PMID:15488637|PMID:15492928|PMID:15520402|PMID:15649950|PMID:15803365|PMID:15810020|PMID:16199547|PMID:16257342|PMID:16492927|PMID:16574953|PMID:16816021|PMID:16835864|PMID:16880452|PMID:16941491|PMID:16982735|PMID:17085682|PMID:17517688|PMID:17721994|PMID:18085035|PMID:18172190|PMID:18281249|PMID:18381420|PMID:18571837|PMID:18725978|PMID:18759107|PMID:18930998|PMID:18996005|PMID:19030985|PMID:19338683|PMID:19609724|PMID:19768534|PMID:19782031|PMID:19805189|PMID:19876921|PMID:20223004|PMID:20417869|PMID:21244692|PMID:21356067|PMID:21514219|PMID:21562711|PMID:21701879|PMID:21778326|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058216|PMID:22058428|PMID:22114986|PMID:22419737|PMID:22799331|PMID:22811390|PMID:22862163|PMID:22901170|PMID:22994785|PMID:23109706|PMID:23296741|PMID:23334666|PMID:23469205|PMID:23552953|PMID:23555315|PMID:23652375|PMID:23713947|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24506336|PMID:24595525|PMID:24599715|PMID:24713400|PMID:24728327|PMID:24880342|PMID:24884479|PMID:25085752|PMID:25186627|PMID:25318351|PMID:25330149|PMID:25431674|PMID:25503501|PMID:25525159|PMID:25583358|PMID:25741868|PMID:25798211|PMID:2598075|PMID:25980754|PMID:26022348|PMID:26083025|PMID:26084796|PMID:26446916|PMID:26467025|PMID:26483394|PMID:26506619|PMID:26534844|PMID:26556299|PMID:26644315|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787654|PMID:26822949|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27009842|PMID:27023146|PMID:27028851|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27296296|PMID:27318168|PMID:27433846|PMID:27443514|PMID:27488870|PMID:27498913|PMID:27534895|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27696107|PMID:27708748|PMID:27711073|PMID:27716369|PMID:27751358|PMID:27779110|PMID:27782108|PMID:27783279|PMID:27798748|PMID:27878467|PMID:2797856|PMID:27978560|PMID:28008555|PMID:28051113|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514723|PMID:28580595|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28843361|PMID:28873162|PMID:28874143|PMID:28944238|PMID:29212164|PMID:29351919|PMID:29368341|PMID:29470806|PMID:29489754|PMID:29520813|PMID:29522266|PMID:29596542|PMID:29752822|PMID:29902706|PMID:29909568|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29978187|PMID:30113427|PMID:30128536|PMID:30269267|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30426508|PMID:30441849|PMID:30580288|PMID:30613976|PMID:30672594|PMID:30676620|PMID:30680046|PMID:30706980|PMID:30851065|PMID:30927251|PMID:31036035|PMID:31050813|PMID:31159747|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31300551|PMID:31341520|PMID:31349801|PMID:31360903|PMID:31398194|PMID:31409080|PMID:31422574|PMID:31447099|PMID:31589614|PMID:31614935|PMID:31780696|PMID:31784482|PMID:31843900|PMID:31844177|PMID:31948886|PMID:31993860|PMID:32029870|PMID:32091409|PMID:32119081|PMID:32227564|PMID:32243226|PMID:32255556|PMID:32285038|PMID:32295079|PMID:32338768|PMID:32383162|PMID:32531112|PMID:32546565|PMID:32566746|PMID:32658311|PMID:32805687|PMID:32830346|PMID:32875559|PMID:32881420|PMID:32885271|PMID:32906215|PMID:32923877|PMID:32957588|PMID:33030641|PMID:33077847|PMID:3313277|PMID:33193653|PMID:33298767|PMID:33471991|PMID:33606978|PMID:33670479|PMID:33692755|PMID:33726816|PMID:33804961|PMID:33925588|PMID:33986034|PMID:34072659|PMID:34271781|PMID:34308366|PMID:34326862|PMID:34570182|PMID:34630562|PMID:34637943|PMID:34903604|PMID:34933735|PMID:34992046|PMID:35128723|PMID:35132179|PMID:35174967|PMID:35245693|PMID:35264596|PMID:35402282|PMID:35441217|PMID:35451682|PMID:35534704|PMID:35585550|PMID:35643632|PMID:35866394
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:35980532|PMID:36035419|PMID:36136322|PMID:36222830|PMID:36315097|PMID:36468172|PMID:36529819|PMID:36623239|PMID:36744932|PMID:36856935|PMID:36988593|PMID:37055167|PMID:37065479|PMID:37149759|PMID:37262986|PMID:37449874|PMID:37490054|PMID:37628581|PMID:37725924|PMID:37842866|PMID:37932350|PMID:38002677|PMID:38054408|PMID:38061684|PMID:38075165|PMID:38367672
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16199547|PMID:16492927|PMID:16880452|PMID:16982735|PMID:17085682|PMID:18172190|PMID:18759107|PMID:18996005|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23334666|PMID:23652375|PMID:23946381|PMID:23960188|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25186627|PMID:25330149|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28211887|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29659569|PMID:29909568|PMID:30113427|PMID:30287823|PMID:30303537|PMID:30322717|PMID:30851065|PMID:31036035|PMID:31300551|PMID:31398194|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32522261|PMID:32531112|PMID:32805687|PMID:32906215|PMID:33471991|PMID:34326862|PMID:35264596|PMID:35534704|PMID:35643632|PMID:35674998|PMID:36140642|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37060015|PMID:37149759|PMID:37449874|PMID:38367672|PMID:39208550|PMID:39492936|PMID:39642869|PMID:39684258|PMID:40749126
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:732861	D	RGD:9068941	20231005	RGD		DNA:loss of heterozygosity	PMID:17145815|REF_RGD_ID:2289706
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9538	multiple myeloma		ISO	RGD:732861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	PMID:15492928|PMID:21244692|PMID:21876083|PMID:24113346|PMID:24556621|PMID:24713400|PMID:24763289|PMID:25741868|PMID:26467025|PMID:26534844|PMID:26681312|PMID:27273131|PMID:27751358|PMID:28492532|PMID:30676620|PMID:32830346|PMID:32832836|PMID:32885271|PMID:33471991|PMID:33803639
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9834	hyperopia		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059651	CHEK2	checkpoint kinase 2	gene	DOID:9970	obesity		ISO	RGD:732861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10617473|PMID:11053450|PMID:11719428|PMID:11967536|PMID:123456|PMID:1234564|PMID:12533788|PMID:14648717|PMID:14648718|PMID:14648719|PMID:15087378|PMID:15095295|PMID:15122511|PMID:15239132|PMID:15361853|PMID:15488637|PMID:15492928|PMID:15520402|PMID:16492927|PMID:16880452|PMID:17085682|PMID:18172190|PMID:18759107|PMID:19338683|PMID:19768534|PMID:19805189|PMID:21779515|PMID:21807500|PMID:21876083|PMID:21956126|PMID:22006311|PMID:22058428|PMID:22419737|PMID:22811390|PMID:22994785|PMID:23109706|PMID:23652375|PMID:23946381|PMID:24033266|PMID:24713400|PMID:24879340|PMID:24884479|PMID:25431674|PMID:25583358|PMID:25741868|PMID:26014596|PMID:26084796|PMID:26467025|PMID:26629066|PMID:26641009|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26884562|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27223485|PMID:27269948|PMID:27433846|PMID:27751358|PMID:27798748|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28503720|PMID:28514723|PMID:28727877|PMID:28734145|PMID:28779002|PMID:28802053|PMID:28874143|PMID:29351919|PMID:29489754|PMID:29522266|PMID:29909568|PMID:30113427|PMID:31300551|PMID:31993860|PMID:32119081|PMID:32285038|PMID:32383162|PMID:32531112|PMID:32805687|PMID:33471991|PMID:35534704|PMID:35674998|PMID:36623239|PMID:36744932|PMID:37055167|PMID:37149759|PMID:37449874
12059695	LOC487015	myelin P2 protein	gene	DOID:0110153	Charcot-Marie-Tooth disease type 1E		ISO	RGD:1316684	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1E	PMID:25741868
12059695	LOC487015	myelin P2 protein	gene	DOID:0111560	Charcot-Marie-Tooth disease type 1G		ISO	RGD:1316684	D	RGD:7240710	20191002	OMIM			
12059695	LOC487015	myelin P2 protein	gene	DOID:0111560	Charcot-Marie-Tooth disease type 1G		ISO	RGD:1316684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1G | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1G | ClinVar Annotator: match by term: PMP2-related condition	PMID:25741868|PMID:26257172|PMID:26828946|PMID:27009151|PMID:28492532|PMID:28747762|PMID:30249361|PMID:30941082|PMID:31412900|PMID:32277537|PMID:37927275
12059695	LOC487015	myelin P2 protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059695	LOC487015	myelin P2 protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059695	LOC487015	myelin P2 protein	gene	DOID:630	genetic disease		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12059695	LOC487015	myelin P2 protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059703	NPTN	neuroplastin	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:1059	intellectual disability		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:10763	hypertension		ISO	RGD:733531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12059703	NPTN	neuroplastin	gene	DOID:10907	microcephaly		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:1115	sarcoma		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059703	NPTN	neuroplastin	gene	DOID:1432	blindness		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:1909	melanoma		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059703	NPTN	neuroplastin	gene	DOID:4621	holoprosencephaly		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:5041	esophageal cancer		ISO	RGD:733531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059703	NPTN	neuroplastin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059703	NPTN	neuroplastin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733531	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: NPTN-related neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12059703	NPTN	neuroplastin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059703	NPTN	neuroplastin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12059703	NPTN	neuroplastin	gene	DOID:9007661	Dwarfism		ISO	RGD:733531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12059715	POLR1H	RNA polymerase I subunit H	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
12059715	POLR1H	RNA polymerase I subunit H	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1351679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16609701
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:33867527
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:1324	lung cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:3275	thymoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059733	ERO1B	endoplasmic reticulum oxidoreductase 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12059754	FOXK1	forkhead box K1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12059754	FOXK1	forkhead box K1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059754	FOXK1	forkhead box K1	gene	DOID:2394	ovarian cancer		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12059754	FOXK1	forkhead box K1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12059754	FOXK1	forkhead box K1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12059754	FOXK1	forkhead box K1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059754	FOXK1	forkhead box K1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12059754	FOXK1	forkhead box K1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059767	PRSS33	serine protease 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059767	PRSS33	serine protease 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12059781	LOC607286	speedy protein E4-like	gene	DOID:5041	esophageal cancer		ISO	RGD:2303837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059782	ZMAT4	zinc finger matrin-type 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059782	ZMAT4	zinc finger matrin-type 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059801	CTSK	cathepsin K	gene	DOID:0050581	brachydactyly		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:0060249	scoliosis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:0080038	pycnodysostosis		ISO	RGD:734172	D	RGD:7240710	20180130	OMIM			
12059801	CTSK	cathepsin K	gene	DOID:0080038	pycnodysostosis		ISO	RGD:734172	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PYCNODYSOSTOSIS | ClinVar Annotator: match by term: Pycnodysostosis | ClinVar Annotator: match by term: Pyknodysostosis | ClinVar Annotator: match by term: pycnodysostosis	PMID:10074491|PMID:10491211|PMID:10571690|PMID:10634420|PMID:10878663|PMID:11181082|PMID:12125807|PMID:12874701|PMID:15070910|PMID:16199547|PMID:17206399|PMID:17397052|PMID:19674475|PMID:20044043|PMID:20814951|PMID:21099701|PMID:21217630|PMID:21569238|PMID:22822386|PMID:23506830|PMID:23786531|PMID:24057333|PMID:24269275|PMID:24767306|PMID:25550899|PMID:25725806|PMID:25741868|PMID:26402641|PMID:26892377|PMID:27092432|PMID:27558267|PMID:28328823|PMID:28492532|PMID:29390266|PMID:29441215|PMID:29620724|PMID:29796728|PMID:30199612|PMID:31100385|PMID:31237352|PMID:31680459|PMID:31944631|PMID:32883051|PMID:33945887|PMID:33963797|PMID:35186389|PMID:35315254|PMID:37288425|PMID:37809147|PMID:8703060|PMID:8938428|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
12059801	CTSK	cathepsin K	gene	DOID:10534	stomach cancer		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12059801	CTSK	cathepsin K	gene	DOID:10754	otitis media		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:middle ear	PMID:15179208|REF_RGD_ID:1342442
12059801	CTSK	cathepsin K	gene	DOID:10907	microcephaly		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:10941	intracranial aneurysm		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, artery	PMID:18635848|REF_RGD_ID:2306495
12059801	CTSK	cathepsin K	gene	DOID:10941	intracranial aneurysm		ISO	RGD:734172	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, artery	PMID:18635848|REF_RGD_ID:2306495
12059801	CTSK	cathepsin K	gene	DOID:11476	osteoporosis		ISO	RGD:62102	D	RGD:9068941	20200609	RGD			PMID:10469835|REF_RGD_ID:734856
12059801	CTSK	cathepsin K	gene	DOID:13533	osteopetrosis		ISO	RGD:62102	D	RGD:9068941	20200609	RGD			PMID:10469835|REF_RGD_ID:734856
12059801	CTSK	cathepsin K	gene	DOID:1909	melanoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12059801	CTSK	cathepsin K	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12059801	CTSK	cathepsin K	gene	DOID:2340	craniosynostosis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:3068	glioblastoma		ISO	RGD:734172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25356585
12059801	CTSK	cathepsin K	gene	DOID:3275	thymoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059801	CTSK	cathepsin K	gene	DOID:4362	cervical cancer		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059801	CTSK	cathepsin K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059801	CTSK	cathepsin K	gene	DOID:630	genetic disease		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12059801	CTSK	cathepsin K	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:824	periodontitis		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
12059801	CTSK	cathepsin K	gene	DOID:8398	osteoarthritis		ISO	RGD:734172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30664745
12059801	CTSK	cathepsin K	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:61810	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12059801	CTSK	cathepsin K	gene	DOID:9001031	Retrognathia		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:9001402	Acro-Osteolysis		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acroosteolysis	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:61810	D	RGD:9068941	20200609	RGD		mRNA:increased expression:synovium, bone marrow	PMID:15353610|REF_RGD_ID:1601025
12059801	CTSK	cathepsin K	gene	DOID:9002589	Bone Fractures		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:9003816	Macrocephaly		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24767306|PMID:25741868|PMID:28492532|PMID:31944631
12059801	CTSK	cathepsin K	gene	DOID:9005077	Joint Instability		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:9005616	Micrognathism		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:28492532|PMID:8703060|PMID:8938428
12059801	CTSK	cathepsin K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12059801	CTSK	cathepsin K	gene	DOID:9007573	Flatfoot		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10074491|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21569238|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:9007661	Dwarfism		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:24767306|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:31944631|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
12059801	CTSK	cathepsin K	gene	DOID:930	orbital disease		ISO	RGD:734172	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:10074491|PMID:10571690|PMID:12125807|PMID:12874701|PMID:17397052|PMID:20044043|PMID:20814951|PMID:21217630|PMID:21569238|PMID:23786531|PMID:25741868|PMID:27558267|PMID:28492532|PMID:29796728|PMID:32883051|PMID:8703060|PMID:8938428|PMID:9529353
12059838	HSF2BP	heat shock transcription factor 2 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12059838	HSF2BP	heat shock transcription factor 2 binding protein	gene	DOID:0112278	primary ovarian insufficiency 19		ISO	RGD:1349418	D	RGD:7240710	20210414	OMIM			
12059838	HSF2BP	heat shock transcription factor 2 binding protein	gene	DOID:0112278	primary ovarian insufficiency 19		ISO	RGD:1349418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 19	PMID:25741868
12059838	HSF2BP	heat shock transcription factor 2 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059838	HSF2BP	heat shock transcription factor 2 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12059865	PPP1R17	protein phosphatase 1 regulatory subunit 17	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1344493	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:25741868
12059865	PPP1R17	protein phosphatase 1 regulatory subunit 17	gene	DOID:13810	familial hypercholesterolemia	susceptibility	ISO	RGD:1344493	D	RGD:7240710	20230505	OMIM			
12059865	PPP1R17	protein phosphatase 1 regulatory subunit 17	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1344493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO	
12059879	KCNJ9	potassium inwardly rectifying channel subfamily J member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1343442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12059887	MIR542	microRNA mir-542	gene	DOID:0050855	renal fibrosis		ISO	RGD:2325422	D	RGD:9068941	20231118	RGD		RNA:increased expression:kidney	PMID:32470449|REF_RGD_ID:401900731
12059887	MIR542	microRNA mir-542	gene	DOID:7305	astroblastoma	disease_progression	ISO	RGD:1606043	D	RGD:9068941	20210730	RGD			PMID:26286747|REF_RGD_ID:13782052
12059887	MIR542	microRNA mir-542	gene	DOID:9004303	Tubulointerstitial Fibrosis	exacerbates	ISO	RGD:2325422	D	RGD:9068941	20231118	RGD			PMID:32470449|REF_RGD_ID:401900731
12059887	MIR542	microRNA mir-542	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1606043	D	RGD:9068941	20210730	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12059887	MIR542	microRNA mir-542	gene	DOID:9452	steatotic liver disease		ISO	RGD:1606043	D	RGD:9068941	20210730	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12059967	ZNF473	zinc finger protein 473	gene	DOID:1324	lung cancer		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12059967	ZNF473	zinc finger protein 473	gene	DOID:3275	thymoma		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12059967	ZNF473	zinc finger protein 473	gene	DOID:4362	cervical cancer		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12059967	ZNF473	zinc finger protein 473	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12059967	ZNF473	zinc finger protein 473	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060047	HMGB1	high mobility group box 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:1605729	D	RGD:9068941	20250123	RGD		protein:increased expression:orbitofrontal cortex	PMID:23206318|REF_RGD_ID:7175526
12060047	HMGB1	high mobility group box 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060047	HMGB1	high mobility group box 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060047	HMGB1	high mobility group box 1	gene	DOID:1059	intellectual disability		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12060047	HMGB1	high mobility group box 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10711	D	RGD:9068941	20200609	RGD			PMID:23905994|REF_RGD_ID:10402058
12060047	HMGB1	high mobility group box 1	gene	DOID:10763	hypertension		ISO	RGD:1605729	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32147540
12060047	HMGB1	high mobility group box 1	gene	DOID:10825	essential hypertension		ISO	RGD:1605729	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
12060047	HMGB1	high mobility group box 1	gene	DOID:10908	hydrocephalus		ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:22116431|REF_RGD_ID:10402405
12060047	HMGB1	high mobility group box 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12060047	HMGB1	high mobility group box 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060047	HMGB1	high mobility group box 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:23991202|REF_RGD_ID:10402062
12060047	HMGB1	high mobility group box 1	gene	DOID:12986	leukostasis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28294475
12060047	HMGB1	high mobility group box 1	gene	DOID:13378	Kawasaki disease		ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18720262|REF_RGD_ID:8695977
12060047	HMGB1	high mobility group box 1	gene	DOID:13603	obstructive jaundice		ISO	RGD:2802	D	RGD:9068941	20210122	RGD		protein:increased expression:liver, plasma	PMID:21737101|REF_RGD_ID:10402168
12060047	HMGB1	high mobility group box 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12060047	HMGB1	high mobility group box 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
12060047	HMGB1	high mobility group box 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:2802	D	RGD:9068941	20250130	RGD		protein:increased expression:frontal cortex neuron	PMID:23867237|REF_RGD_ID:597538460
12060047	HMGB1	high mobility group box 1	gene	DOID:1574	alcohol use disorder	onset	ISO	RGD:1605729	D	RGD:9068941	20250130	RGD		protein:increased expression:orbitofrontal cortex	PMID:23867237|REF_RGD_ID:597538460
12060047	HMGB1	high mobility group box 1	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2802	D	RGD:9068941	20250220	RGD			PMID:32664441|REF_RGD_ID:597805903
12060047	HMGB1	high mobility group box 1	gene	DOID:1826	epilepsy		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12060047	HMGB1	high mobility group box 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:20519084|REF_RGD_ID:10402182
12060047	HMGB1	high mobility group box 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:10711	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, plasma	PMID:23288172|REF_RGD_ID:8696004
12060047	HMGB1	high mobility group box 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:20616616|REF_RGD_ID:10402080
12060047	HMGB1	high mobility group box 1	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:10830965|REF_RGD_ID:10402059
12060047	HMGB1	high mobility group box 1	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:1605729	D	RGD:9068941	20200609	RGD			PMID:23639787|REF_RGD_ID:10402056
12060047	HMGB1	high mobility group box 1	gene	DOID:3454	brain infarction		ISO	RGD:2802	D	RGD:9068941	20230216	RGD			PMID:19944723|REF_RGD_ID:2316741
12060047	HMGB1	high mobility group box 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:23480850|REF_RGD_ID:9681449
12060047	HMGB1	high mobility group box 1	gene	DOID:3526	cerebral infarction		ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23288172|REF_RGD_ID:8696004
12060047	HMGB1	high mobility group box 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12060047	HMGB1	high mobility group box 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27616297
12060047	HMGB1	high mobility group box 1	gene	DOID:418	systemic scleroderma		ISO	RGD:10711	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18825489|REF_RGD_ID:8695973
12060047	HMGB1	high mobility group box 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18825489|REF_RGD_ID:8695973
12060047	HMGB1	high mobility group box 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060047	HMGB1	high mobility group box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060047	HMGB1	high mobility group box 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21113057
12060047	HMGB1	high mobility group box 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:23188125|REF_RGD_ID:10402174
12060047	HMGB1	high mobility group box 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:23708738|REF_RGD_ID:10402070
12060047	HMGB1	high mobility group box 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:24204700|REF_RGD_ID:10402081
12060047	HMGB1	high mobility group box 1	gene	DOID:630	genetic disease		ISO	RGD:1605729	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12060047	HMGB1	high mobility group box 1	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:25032709|REF_RGD_ID:10402082
12060047	HMGB1	high mobility group box 1	gene	DOID:824	periodontitis		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva	PMID:24692854|REF_RGD_ID:10402172
12060047	HMGB1	high mobility group box 1	gene	DOID:8398	osteoarthritis		ISO	RGD:10711	D	RGD:9068941	20200609	RGD			PMID:22330250|REF_RGD_ID:10401949
12060047	HMGB1	high mobility group box 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:20195207|REF_RGD_ID:2325645
12060047	HMGB1	high mobility group box 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		associated with Adenocarcinoma, Colon	PMID:20616616|REF_RGD_ID:10402080
12060047	HMGB1	high mobility group box 1	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2802	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
12060047	HMGB1	high mobility group box 1	gene	DOID:9000238	Acute-On-Chronic Liver Failure	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:23591781|REF_RGD_ID:10402084
12060047	HMGB1	high mobility group box 1	gene	DOID:9000945	Ventilator-Induced Lung Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:24058610|REF_RGD_ID:10402091
12060047	HMGB1	high mobility group box 1	gene	DOID:9000972	Fever		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19265175
12060047	HMGB1	high mobility group box 1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:22915134|REF_RGD_ID:7245513
12060047	HMGB1	high mobility group box 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:21999229|REF_RGD_ID:10402064
12060047	HMGB1	high mobility group box 1	gene	DOID:9001749	Chemotherapy-Related Cognitive Impairment	treatment	ISO	RGD:2802	D	RGD:9068941	20250206	RGD			PMID:36708885|REF_RGD_ID:597621662
12060047	HMGB1	high mobility group box 1	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:22217518|REF_RGD_ID:7245568
12060047	HMGB1	high mobility group box 1	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, altered localization:serum, hepatocyte, cytoplasm	PMID:21431875|REF_RGD_ID:10402078
12060047	HMGB1	high mobility group box 1	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased oxidation:liver	PMID:22514737|REF_RGD_ID:10402175
12060047	HMGB1	high mobility group box 1	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:24578610|REF_RGD_ID:10402068
12060047	HMGB1	high mobility group box 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27474498
12060047	HMGB1	high mobility group box 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:24077211|PMID:30142543|REF_RGD_ID:13838658|REF_RGD_ID:7364865
12060047	HMGB1	high mobility group box 1	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, serum	PMID:24599045|REF_RGD_ID:8696002
12060047	HMGB1	high mobility group box 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:articular cartilage	PMID:19139395|REF_RGD_ID:10402184
12060047	HMGB1	high mobility group box 1	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:1605729	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial fluid	PMID:21968272|REF_RGD_ID:10402061
12060047	HMGB1	high mobility group box 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm, extracellular matrix	PMID:12384917|REF_RGD_ID:728698
12060047	HMGB1	high mobility group box 1	gene	DOID:9002644	Premature Aging		ISO	RGD:10711	D	RGD:9068941	20200609	RGD		protein:increased expression:adipose tissue	PMID:21828285|REF_RGD_ID:10043099
12060047	HMGB1	high mobility group box 1	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19265175
12060047	HMGB1	high mobility group box 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:10711	D	RGD:9068941	20200609	RGD			PMID:24371837|REF_RGD_ID:10402057
12060047	HMGB1	high mobility group box 1	gene	DOID:9003199	Systemic Vasculitis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146691
12060047	HMGB1	high mobility group box 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1605729	D	RGD:9068941	20200609	RGD			PMID:23708738|REF_RGD_ID:10402070
12060047	HMGB1	high mobility group box 1	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:22392147|REF_RGD_ID:10402071
12060047	HMGB1	high mobility group box 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605729	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34164801|PMID:36755093
12060047	HMGB1	high mobility group box 1	gene	DOID:9004484	Sepsis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19265175|PMID:23146691
12060047	HMGB1	high mobility group box 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:10711	D	RGD:9068941	20200609	RGD			PMID:20936717|REF_RGD_ID:10402173
12060047	HMGB1	high mobility group box 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:19623040|REF_RGD_ID:10402067
12060047	HMGB1	high mobility group box 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD		associated with Burns	PMID:23874764|REF_RGD_ID:10402098
12060047	HMGB1	high mobility group box 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:19766246|REF_RGD_ID:4892587
12060047	HMGB1	high mobility group box 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200709	RGD		associated with  Crush Injuries	PMID:30465396|REF_RGD_ID:34901874
12060047	HMGB1	high mobility group box 1	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:20047080|REF_RGD_ID:10402179
12060047	HMGB1	high mobility group box 1	gene	DOID:9004974	Painful Neuropathy		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27474498
12060047	HMGB1	high mobility group box 1	gene	DOID:9005372	Inflammation		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21617575|PMID:22178603|PMID:22386814|PMID:22429818|PMID:23146691
12060047	HMGB1	high mobility group box 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;protein:increased expression:serum	PMID:19959191|REF_RGD_ID:2316737
12060047	HMGB1	high mobility group box 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:retina, cytoplasm	PMID:23261684|REF_RGD_ID:10402069
12060047	HMGB1	high mobility group box 1	gene	DOID:9005749	Necrosis		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783637|PMID:22178603
12060047	HMGB1	high mobility group box 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, serum	PMID:18503231|REF_RGD_ID:10402065
12060047	HMGB1	high mobility group box 1	gene	DOID:9005968	Neuralgia		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25014009
12060047	HMGB1	high mobility group box 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:10711	D	RGD:9068941	20250123	RGD		mRNA, protein:increased expression:brain	PMID:23206318|REF_RGD_ID:7175526
12060047	HMGB1	high mobility group box 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2802	D	RGD:9068941	20250201	RGD		mRNA:increased expression:basal forebrain cholinergic neurons	PMID:37402853|REF_RGD_ID:597538603
12060047	HMGB1	high mobility group box 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2802	D	RGD:9068941	20250213	RGD		mRNA, protein:increased expression:hippocampus	PMID:23078219|REF_RGD_ID:597805826
12060047	HMGB1	high mobility group box 1	gene	DOID:9006444	Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia		ISO	RGD:1605729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	PMID:25741868|PMID:36755093
12060047	HMGB1	high mobility group box 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27474498
12060047	HMGB1	high mobility group box 1	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:2802	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:22115333|REF_RGD_ID:10402095
12060047	HMGB1	high mobility group box 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12060047	HMGB1	high mobility group box 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19783637
12060047	HMGB1	high mobility group box 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:10711	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
12060047	HMGB1	high mobility group box 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
12060047	HMGB1	high mobility group box 1	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:23706497|REF_RGD_ID:10402063
12060047	HMGB1	high mobility group box 1	gene	DOID:9007730	Burns	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:20723408|REF_RGD_ID:10402183
12060047	HMGB1	high mobility group box 1	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:22093738|REF_RGD_ID:10402181
12060047	HMGB1	high mobility group box 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1605729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21113057
12060047	HMGB1	high mobility group box 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2802	D	RGD:9068941	20200609	RGD			PMID:19540007|PMID:23531454|REF_RGD_ID:10402066|REF_RGD_ID:10402170
12060047	HMGB1	high mobility group box 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060061	HGF	hepatocyte growth factor	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12819026|REF_RGD_ID:2317903
12060061	HGF	hepatocyte growth factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16109756|PMID:18083897
12060061	HGF	hepatocyte growth factor	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:15238569|REF_RGD_ID:8548639
12060061	HGF	hepatocyte growth factor	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:20848408|REF_RGD_ID:8548612
12060061	HGF	hepatocyte growth factor	gene	DOID:0051061	stroke	treatment	ISO	RGD:2794	D	RGD:9068941	20200609	RGD			PMID:16421510|REF_RGD_ID:8548626
12060061	HGF	hepatocyte growth factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:70837	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12060061	HGF	hepatocyte growth factor	gene	DOID:0060224	atrial fibrillation		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:15008956|REF_RGD_ID:8548608
12060061	HGF	hepatocyte growth factor	gene	DOID:0060903	thrombosis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15367830
12060061	HGF	hepatocyte growth factor	gene	DOID:0080600	COVID-19		ISO	RGD:70837	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12060061	HGF	hepatocyte growth factor	gene	DOID:0080600	COVID-19	severity	ISO	RGD:70837	D	RGD:9068941	20200618	RGD		protein:increased expression:plasma (human)	PMID:32360286|REF_RGD_ID:30309209
12060061	HGF	hepatocyte growth factor	gene	DOID:0080745	polymyositis	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:8952317|REF_RGD_ID:8548628
12060061	HGF	hepatocyte growth factor	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:11390418|REF_RGD_ID:8548544
12060061	HGF	hepatocyte growth factor	gene	DOID:0110497	autosomal recessive nonsyndromic deafness 39		ISO	RGD:70837	D	RGD:7240710	20180130	OMIM			
12060061	HGF	hepatocyte growth factor	gene	DOID:0110497	autosomal recessive nonsyndromic deafness 39		ISO	RGD:70837	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 39 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 39 | ClinVar Annotator: match by term: HGF-related condition	PMID:18564920|PMID:24033266|PMID:25741868|PMID:28492532
12060061	HGF	hepatocyte growth factor	gene	DOID:10126	keratoconus		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs2286194(human)	PMID:24416191|REF_RGD_ID:8548553
12060061	HGF	hepatocyte growth factor	gene	DOID:10223	dermatomyositis	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:8952317|REF_RGD_ID:8548628
12060061	HGF	hepatocyte growth factor	gene	DOID:10534	stomach cancer		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060061	HGF	hepatocyte growth factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor:	PMID:20053975|REF_RGD_ID:8548602
12060061	HGF	hepatocyte growth factor	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron13:C/A	PMID:15127882|REF_RGD_ID:1642064
12060061	HGF	hepatocyte growth factor	gene	DOID:1115	sarcoma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060061	HGF	hepatocyte growth factor	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:18941443|REF_RGD_ID:8548631
12060061	HGF	hepatocyte growth factor	gene	DOID:11830	myopia		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		Han Chinese population	PMID:16723436|REF_RGD_ID:1642706
12060061	HGF	hepatocyte growth factor	gene	DOID:11830	myopia	no_association	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs3735520(human)	PMID:19060265|REF_RGD_ID:8548600
12060061	HGF	hepatocyte growth factor	gene	DOID:11830	myopia	susceptibility	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotypes:multiple:	PMID:19471602|REF_RGD_ID:8548542
12060061	HGF	hepatocyte growth factor	gene	DOID:12306	vitiligo	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:16117796|REF_RGD_ID:8548598
12060061	HGF	hepatocyte growth factor	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:10751359|REF_RGD_ID:8548546
12060061	HGF	hepatocyte growth factor	gene	DOID:13550	angle-closure glaucoma	susceptibility	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype::rs5745718,rs1742817(human)	PMID:23585864|REF_RGD_ID:8548548
12060061	HGF	hepatocyte growth factor	gene	DOID:14256	adult-onset Still's disease		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24387171|REF_RGD_ID:8548659
12060061	HGF	hepatocyte growth factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16791285
12060061	HGF	hepatocyte growth factor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12060061	HGF	hepatocyte growth factor	gene	DOID:1612	breast cancer		ISO	RGD:10708	D	RGD:9068941	20240425	MouseDO		OMIM:114480	
12060061	HGF	hepatocyte growth factor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21273587
12060061	HGF	hepatocyte growth factor	gene	DOID:178	vascular disease		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15071489
12060061	HGF	hepatocyte growth factor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:70837	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12060061	HGF	hepatocyte growth factor	gene	DOID:1793	pancreatic cancer		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20017454|REF_RGD_ID:2317895
12060061	HGF	hepatocyte growth factor	gene	DOID:1909	melanoma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060061	HGF	hepatocyte growth factor	gene	DOID:2349	arteriosclerosis	severity	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:9350587|REF_RGD_ID:8548601
12060061	HGF	hepatocyte growth factor	gene	DOID:2741	bilirubin metabolic disorder	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:9073133|REF_RGD_ID:8548604
12060061	HGF	hepatocyte growth factor	gene	DOID:3021	acute kidney failure	exacerbates	ISO	RGD:2794	D	RGD:9068941	20250920	RGD			PMID:18824844|REF_RGD_ID:628359024
12060061	HGF	hepatocyte growth factor	gene	DOID:3069	malignant astrocytoma		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11223164
12060061	HGF	hepatocyte growth factor	gene	DOID:3070	high grade glioma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12060061	HGF	hepatocyte growth factor	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:12115353|REF_RGD_ID:8548633
12060061	HGF	hepatocyte growth factor	gene	DOID:3082	interstitial lung disease	severity	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;DNA:polymorphism:promoter:-1652C>T(human)	PMID:21520010|REF_RGD_ID:8548623
12060061	HGF	hepatocyte growth factor	gene	DOID:3179	inverted papilloma		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:inferior nasal concha:	PMID:22730814|REF_RGD_ID:8548614
12060061	HGF	hepatocyte growth factor	gene	DOID:331	central nervous system disease		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid:	PMID:12100369|REF_RGD_ID:8548547
12060061	HGF	hepatocyte growth factor	gene	DOID:3393	coronary artery disease		ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:11669408|REF_RGD_ID:8548610
12060061	HGF	hepatocyte growth factor	gene	DOID:3407	carotid artery disease		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:16759302|REF_RGD_ID:2313566
12060061	HGF	hepatocyte growth factor	gene	DOID:3454	brain infarction	treatment	ISO	RGD:2794	D	RGD:9068941	20200609	RGD			PMID:16421510|REF_RGD_ID:8548626
12060061	HGF	hepatocyte growth factor	gene	DOID:3565	meningioma	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:12115353|REF_RGD_ID:8548633
12060061	HGF	hepatocyte growth factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16324872
12060061	HGF	hepatocyte growth factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with myositis;protein:increased expression:serum:	PMID:8952317|REF_RGD_ID:8548628
12060061	HGF	hepatocyte growth factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060061	HGF	hepatocyte growth factor	gene	DOID:418	systemic scleroderma		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24387171|REF_RGD_ID:8548659
12060061	HGF	hepatocyte growth factor	gene	DOID:418	systemic scleroderma	severity	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin:	PMID:22286923|REF_RGD_ID:8548651
12060061	HGF	hepatocyte growth factor	gene	DOID:418	systemic scleroderma	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:17049072|REF_RGD_ID:8548624
12060061	HGF	hepatocyte growth factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2794	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression: :	PMID:10827151|REF_RGD_ID:2317925
12060061	HGF	hepatocyte growth factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16974053|REF_RGD_ID:2317909
12060061	HGF	hepatocyte growth factor	gene	DOID:4977	lymphedema		ISO	RGD:70837	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary lymphedema	PMID:25741868|PMID:28492532
12060061	HGF	hepatocyte growth factor	gene	DOID:4989	pancreatitis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14751415
12060061	HGF	hepatocyte growth factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17097021
12060061	HGF	hepatocyte growth factor	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12060061	HGF	hepatocyte growth factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12060061	HGF	hepatocyte growth factor	gene	DOID:5844	myocardial infarction		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:12419930|REF_RGD_ID:8548609
12060061	HGF	hepatocyte growth factor	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:16570015|REF_RGD_ID:8548632
12060061	HGF	hepatocyte growth factor	gene	DOID:633	myositis	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:8952317|REF_RGD_ID:8548628
12060061	HGF	hepatocyte growth factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060061	HGF	hepatocyte growth factor	gene	DOID:7148	rheumatoid arthritis	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24387171|REF_RGD_ID:8548659
12060061	HGF	hepatocyte growth factor	gene	DOID:769	neuroblastoma		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16051641
12060061	HGF	hepatocyte growth factor	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:15505072|REF_RGD_ID:8548603
12060061	HGF	hepatocyte growth factor	gene	DOID:8472	localized scleroderma	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:14712301|REF_RGD_ID:8548627
12060061	HGF	hepatocyte growth factor	gene	DOID:869	cholesteatoma		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:fibroblast:	PMID:15267172|REF_RGD_ID:8547969
12060061	HGF	hepatocyte growth factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:15525877|REF_RGD_ID:8548539
12060061	HGF	hepatocyte growth factor	gene	DOID:8947	diabetic retinopathy	disease_progression	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum	PMID:18335393|REF_RGD_ID:2313565
12060061	HGF	hepatocyte growth factor	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:15118756|REF_RGD_ID:2317899
12060061	HGF	hepatocyte growth factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2794	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:17549731|REF_RGD_ID:2317487
12060061	HGF	hepatocyte growth factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2794	D	RGD:9068941	20200609	RGD			PMID:17549731|REF_RGD_ID:2317487
12060061	HGF	hepatocyte growth factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:22140459|REF_RGD_ID:8548666
12060061	HGF	hepatocyte growth factor	gene	DOID:9000319	Lentigo		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:20662835|REF_RGD_ID:8548653
12060061	HGF	hepatocyte growth factor	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12060061	HGF	hepatocyte growth factor	gene	DOID:9000641	Pain		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26000320
12060061	HGF	hepatocyte growth factor	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12890377
12060061	HGF	hepatocyte growth factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10708	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental;	PMID:16459153|REF_RGD_ID:8548625
12060061	HGF	hepatocyte growth factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25971889
12060061	HGF	hepatocyte growth factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Melanoma;	PMID:10688652|REF_RGD_ID:8548538
12060061	HGF	hepatocyte growth factor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:11893931|REF_RGD_ID:2317904
12060061	HGF	hepatocyte growth factor	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:2794	D	RGD:9068941	20200609	RGD		protein:increased expression:choroidal tissue:	PMID:19013152|REF_RGD_ID:8548599
12060061	HGF	hepatocyte growth factor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:nasal cavity mucosa:	PMID:16982975|REF_RGD_ID:8548613
12060061	HGF	hepatocyte growth factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10677585|PMID:12918455|PMID:15793283|PMID:16465399|PMID:16627068|PMID:17714472|PMID:18637143
12060061	HGF	hepatocyte growth factor	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11896611
12060061	HGF	hepatocyte growth factor	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:16572191|REF_RGD_ID:8548635
12060061	HGF	hepatocyte growth factor	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2794	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:retina:	PMID:11818401|REF_RGD_ID:8548551
12060061	HGF	hepatocyte growth factor	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:11818401|REF_RGD_ID:8548551
12060061	HGF	hepatocyte growth factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:16340242|REF_RGD_ID:2313567
12060061	HGF	hepatocyte growth factor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21273587
12060061	HGF	hepatocyte growth factor	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12060061	HGF	hepatocyte growth factor	gene	DOID:9004001	Facial Nerve Injuries	treatment	ISO	RGD:2794	D	RGD:9068941	20200609	RGD			PMID:21562589|REF_RGD_ID:8548634
12060061	HGF	hepatocyte growth factor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
12060061	HGF	hepatocyte growth factor	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:10708	D	RGD:9068941	20200609	RGD			PMID:9823327|REF_RGD_ID:8548620
12060061	HGF	hepatocyte growth factor	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:9308731|REF_RGD_ID:2317564
12060061	HGF	hepatocyte growth factor	gene	DOID:9004464	Skin Neoplasms	susceptibility	ISO	RGD:10708	D	RGD:9068941	20200609	RGD			PMID:10919643|REF_RGD_ID:8548621
12060061	HGF	hepatocyte growth factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12060061	HGF	hepatocyte growth factor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357|PMID:9932610
12060061	HGF	hepatocyte growth factor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12479984
12060061	HGF	hepatocyte growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2794	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:16297324|REF_RGD_ID:2313568
12060061	HGF	hepatocyte growth factor	gene	DOID:9005941	Rhinosinusitis	susceptibility	ISO	RGD:70837	D	RGD:9068941	20200609	RGD		DNA:haplotype::rs38850,rs38855,rs38857(human)	PMID:20416453|REF_RGD_ID:8548615
12060061	HGF	hepatocyte growth factor	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12060061	HGF	hepatocyte growth factor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		study in the Japanese population	PMID:15713721|REF_RGD_ID:1642702
12060061	HGF	hepatocyte growth factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060061	HGF	hepatocyte growth factor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12447174
12060061	HGF	hepatocyte growth factor	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8807143
12060061	HGF	hepatocyte growth factor	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:10708	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina:	PMID:17389513|REF_RGD_ID:8548541
12060061	HGF	hepatocyte growth factor	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:21443522|REF_RGD_ID:8548549
12060061	HGF	hepatocyte growth factor	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12060061	HGF	hepatocyte growth factor	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:70837	D	RGD:9068941	20200609	RGD			PMID:16246197|REF_RGD_ID:8548597
12060061	HGF	hepatocyte growth factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683780
12060061	HGF	hepatocyte growth factor	gene	DOID:9206	Barrett's esophagus		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
12060061	HGF	hepatocyte growth factor	gene	DOID:9351	diabetes mellitus		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cornea	PMID:16186340|REF_RGD_ID:2313569
12060061	HGF	hepatocyte growth factor	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor:	PMID:10967068|REF_RGD_ID:8548540
12060061	HGF	hepatocyte growth factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26000320
12060061	HGF	hepatocyte growth factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:15734864|REF_RGD_ID:2313570
12060061	HGF	hepatocyte growth factor	gene	DOID:9970	obesity		ISO	RGD:70837	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12706940|REF_RGD_ID:1642704
12060092	NUP50	nucleoporin 50	gene	DOID:10534	stomach cancer		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060092	NUP50	nucleoporin 50	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060092	NUP50	nucleoporin 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060092	NUP50	nucleoporin 50	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12060092	NUP50	nucleoporin 50	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12060092	NUP50	nucleoporin 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060104	HIPK3	homeodomain interacting protein kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:5041	esophageal cancer		ISO	RGD:1321113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:630	genetic disease		ISO	RGD:1321113	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:9000198	Erythrokeratodermia Variabilis et Progressiva 7		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 7 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 7 | ClinVar Annotator: match by term: PERP-related condition	
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:7240710	20210303	OMIM			
12060131	PERP	p53 apoptosis effector related to PMP22	gene	DOID:9008575	Olmsted Syndrome 2		ISO	RGD:1321113	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OLMSTED SYNDROME 2	
12060138	TMEM160	transmembrane protein 160	gene	DOID:10534	stomach cancer		ISO	RGD:1606276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:1909	melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349032	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060145	NPM3	nucleophosmin/nucleoplasmin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:3275	thymoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:7240710	20221102	OMIM			
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9002367	Diamond-Blackfan Anemia 21		ISO	RGD:1602884	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 21 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 21	PMID:25741868
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060155	HEATR3	HEAT repeat containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1602884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12060174	PSMG3	proteasome assembly chaperone 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060174	PSMG3	proteasome assembly chaperone 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060174	PSMG3	proteasome assembly chaperone 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:1324	lung cancer		ISO	RGD:1319015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:1909	melanoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:3275	thymoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319015	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060190	RGL1	ral guanine nucleotide dissociation stimulator like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1314857	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:1909	melanoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060217	MBIP	MAP3K12 binding inhibitory protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0060260	ptosis		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1605926	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:7240710	20180130	OMIM			
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:0081098	autosomal recessive intellectual developmental disorder 13		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 13 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 13 | ClinVar Annotator: match by term: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome | ClinVar Annotator: match by term: TRAPPC9-related condition	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:20004765|PMID:25741868|PMID:28440294|PMID:28492532|PMID:28940097|PMID:29187737|PMID:33513295|PMID:33767182
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:10534	stomach cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:18414213|PMID:25533962|PMID:25741868|PMID:28492532|PMID:29610177
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability | ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:33403770
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:12849	autistic disorder		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:29187737
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:3275	thymoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:4362	cervical cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1605926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:5419	schizophrenia		ISO	RGD:1605926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1605926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:26934580|PMID:28492532|PMID:29187737|PMID:35042660
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:2000476|PMID:20004763|PMID:20004764|PMID:25741868|PMID:28492532|PMID:28940097
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12060238	TRAPPC9	trafficking protein particle complex subunit 9	gene	DOID:9834	hyperopia		ISO	RGD:1605926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:10534	stomach cancer		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:1115	sarcoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:3275	thymoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:4362	cervical cancer		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:5041	esophageal cancer		ISO	RGD:1604206	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:6039	uveal melanoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060267	LRRC45	leucine rich repeat containing 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:10534	stomach cancer		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:1324	lung cancer		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:1909	melanoma		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:3275	thymoma		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:4362	cervical cancer		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060288	ADGRE3	adhesion G protein-coupled receptor E3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0060249	scoliosis		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080006	bone development disease		ISO	RGD:732695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16826531
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		ISO	RGD:732695	D	RGD:7240710	20180130	OMIM			
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080110	contractures, pterygia, and spondylocarpotarsal fusion syndrome		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHRNG-associated hypo-akinesia disorder of prenatal onset | ClinVar Annotator: match by term: CHRNG-related disorder | ClinVar Annotator: match by term: ESCOBAR SYNDROME | ClinVar Annotator: match by term: PTERYGIUM UNIVERSALE | ClinVar Annotator: match by term: Pterygium colli syndrome | ClinVar Annotator: match by term: Pterygium universale	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25411939|PMID:25608830|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32587836|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:0081322	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive multiple pterygium syndrome	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:10908	hydrocephalus		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16826520|PMID:25741868|PMID:28492532
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:732695	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16826520
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:4667	kyphosis		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:630	genetic disease		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732695	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:23261301|PMID:25741868|PMID:28492532
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:870	neuropathy		ISO	RGD:732695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16826520|PMID:25741868|PMID:26752647|PMID:28492532|PMID:31230720|PMID:37853563
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:9005962	Multiple Pterygium Syndrome, Lethal Type		ISO	RGD:732695	D	RGD:7240710	20180130	OMIM			
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:9005962	Multiple Pterygium Syndrome, Lethal Type		ISO	RGD:732695	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHRNG-related condition | ClinVar Annotator: match by term: Lethal multiple pterygium syndrome	PMID:16199547|PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:24319099|PMID:25741868|PMID:25957469|PMID:26578207|PMID:26752647|PMID:27245440|PMID:28492532|PMID:29054425|PMID:30868735|PMID:31230720|PMID:32536119|PMID:32901917|PMID:33060286|PMID:34008892|PMID:34440395|PMID:37853563
12060309	CHRNG	cholinergic receptor nicotinic gamma subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:732695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Talipes calcaneovalgus	PMID:16826520|PMID:16826531|PMID:22167768|PMID:24038971|PMID:24254455|PMID:25741868|PMID:25957469|PMID:26578207|PMID:27245440|PMID:28492532|PMID:33060286|PMID:34440395
12060323	SUSD2	sushi domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318458	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060323	SUSD2	sushi domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060323	SUSD2	sushi domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060323	SUSD2	sushi domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060323	SUSD2	sushi domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1318458	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12060323	SUSD2	sushi domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060323	SUSD2	sushi domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060323	SUSD2	sushi domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060323	SUSD2	sushi domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060323	SUSD2	sushi domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060323	SUSD2	sushi domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060342	A3GALT2	alpha 1,3-galactosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060342	A3GALT2	alpha 1,3-galactosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060342	A3GALT2	alpha 1,3-galactosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060342	A3GALT2	alpha 1,3-galactosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060342	A3GALT2	alpha 1,3-galactosyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:26467025|PMID:27054707|PMID:28492532|PMID:31293106|PMID:36907859
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1352150	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:16088929|PMID:16199547|PMID:1833974|PMID:23852624|PMID:25741868|PMID:27879213|PMID:2837213|PMID:28492532|PMID:2973464|PMID:3362213|PMID:3375249|PMID:8490625|PMID:9222766
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:11162	respiratory failure		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:10083731|PMID:12108829|PMID:1301937|PMID:1322637|PMID:1384323|PMID:16088929|PMID:2141777|PMID:24518553|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31388111|PMID:33547378|PMID:34426522|PMID:7858168|PMID:8328470|PMID:8490625|PMID:9169471|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1247	blood coagulation disease		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1432	blindness		ISO	RGD:1352150	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:10083731|PMID:1302612|PMID:14577003|PMID:16088929|PMID:17259242|PMID:22723944|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:29352662|PMID:33751187|PMID:34554397|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10083731|PMID:1302612|PMID:1322637|PMID:14577003|PMID:16088929|PMID:17259242|PMID:1833974|PMID:2141777|PMID:22723944|PMID:23852624|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:29352662|PMID:31388111|PMID:33547378|PMID:33751187|PMID:34554397|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:1969	cerebral palsy		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:10083731|PMID:1322637|PMID:16088929|PMID:2141777|PMID:24518553|PMID:28492532|PMID:31388111|PMID:33547378|PMID:7858168|PMID:8490625|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:2030	anxiety disorder		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10083731|PMID:1322637|PMID:16088929|PMID:2141777|PMID:24518553|PMID:28492532|PMID:31388111|PMID:33547378|PMID:7858168|PMID:8490625|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:3320	Tay-Sachs disease		ISO	RGD:1352150	D	RGD:7240710	20180130	OMIM			
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:3320	Tay-Sachs disease		ISO	RGD:1352150	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Tay-Sachs disease	PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11463833|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12108829|PMID:12180151|PMID:12202988|PMID:12689698|PMID:1269177|PMID:1301189|PMID:1301190|PMID:1301937|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1307230|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:14724290|PMID:14727180|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16352452|PMID:16434676|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1830584|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:19091716|PMID:19156839|PMID:19644708|PMID:19815695|PMID:19858779|PMID:1996872|PMID:20100466|PMID:20301350|PMID:20301397|PMID:20363167|PMID:20672374|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:2145759|PMID:21567908|PMID:21796138|PMID:21937992|PMID:21967858|PMID:22006919|PMID:22344438|PMID:22390110|PMID:22441121|PMID:22723944|PMID:2278539|PMID:22789865|PMID:2294750|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24374108|PMID:24498621|PMID:24518553|PMID:24583203|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2521932|PMID:2522660|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27033294|PMID:27054707|PMID:27362553|PMID:27682588|PMID:27896118|PMID:27959697|PMID:2824459|PMID:28359061|PMID:2837213|PMID:2848800|PMID:28492532|PMID:28503624|PMID:28739864|PMID:29214523|PMID:2934978|PMID:29451896|PMID:29482223|PMID:2954459|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:31069529|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31839005|PMID:32529985|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33426165|PMID:33547378|PMID:3362213|PMID:33751187|PMID:3375249|PMID:33811753|PMID:34288098|PMID:34302356|PMID:34426522|PMID:34440436|PMID:34554397|PMID:34800199|PMID:35186388|PMID:36135330|PMID:36233161|PMID:36907859|PMID:3754980|PMID:3837850|PMID:6236221|PMID:6959123|PMID:7063277|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:803011|PMID:8044648|PMID:8081943|PMID:8111418|PMID:8123671|PMID:8230592|PMID:8257995|PMID:8326491|PMID:8328462|PMID:8328470|PMID:8343225|PMID:8352284|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8488832|PMID:8490625|PMID:8581357|PMID:8672428|PMID:8673609|PMID:8730294|PMID:8757036|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9375850|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:3320	Tay-Sachs disease		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GM2-ganglioside accumulation | ClinVar Annotator: match by term: Hexosaminidase A Deficiency | ClinVar Annotator: match by term: Hexosaminidase A deficiency | ClinVar Annotator: match by term: Sphingolipidosis, Tay-Sachs | ClinVar Annotator: match by term: TAY-SACHS DISEASE | ClinVar Annotator: match by term: Tay-Sachs disease	PMID:10083731|PMID:10464605|PMID:10571007|PMID:10584247|PMID:10852376|PMID:11161796|PMID:11317368|PMID:11596984|PMID:11707436|PMID:12027830|PMID:12108829|PMID:12180151|PMID:12202988|PMID:12689698|PMID:12689701|PMID:1301189|PMID:1301190|PMID:1301937|PMID:1301938|PMID:1301958|PMID:1302612|PMID:1318511|PMID:1322637|PMID:1384323|PMID:1387685|PMID:1415222|PMID:14566483|PMID:14577003|PMID:14648242|PMID:14685153|PMID:1483696|PMID:15065574|PMID:15108204|PMID:1532289|PMID:15505380|PMID:15714079|PMID:16088929|PMID:16199547|PMID:16434676|PMID:16698036|PMID:16948947|PMID:17001642|PMID:17015493|PMID:17237499|PMID:17259242|PMID:17576681|PMID:1827944|PMID:1827945|PMID:1831451|PMID:1832817|PMID:1833974|PMID:18358410|PMID:1837283|PMID:18490185|PMID:18648917|PMID:18693054|PMID:19091716|PMID:19156839|PMID:19858779|PMID:20100466|PMID:20301350|PMID:20363167|PMID:20926324|PMID:21228398|PMID:2137287|PMID:2139660|PMID:2140574|PMID:2141777|PMID:2144098|PMID:21567908|PMID:21796138|PMID:21967858|PMID:22390110|PMID:22441121|PMID:22723944|PMID:22789865|PMID:22975760|PMID:23035047|PMID:23359698|PMID:23820084|PMID:23852624|PMID:24033266|PMID:24088041|PMID:24498621|PMID:24518553|PMID:24583203|PMID:24767253|PMID:24940364|PMID:24953648|PMID:25041270|PMID:2522679|PMID:25287655|PMID:2531748|PMID:25326635|PMID:25525159|PMID:25557439|PMID:25606403|PMID:25640679|PMID:25741868|PMID:25741876|PMID:25860343|PMID:26350204|PMID:26467025|PMID:26633545|PMID:27054707|PMID:27391121|PMID:27682588|PMID:27879213|PMID:27896118|PMID:28359061|PMID:2837213|PMID:28492532|PMID:28739864|PMID:29214523|PMID:29352662|PMID:29451896|PMID:29482223|PMID:2961848|PMID:2970528|PMID:2973311|PMID:2973464|PMID:29973161|PMID:30506202|PMID:30712135|PMID:31069529|PMID:31076878|PMID:31130284|PMID:31242539|PMID:31293106|PMID:31367523|PMID:31388111|PMID:31428437|PMID:31519716|PMID:31839005|PMID:32302469|PMID:32529985|PMID:32968423|PMID:33083013|PMID:33240792|PMID:33258288|PMID:33426165|PMID:33483101|PMID:33547378|PMID:3362213|PMID:33751187|PMID:3375249|PMID:33811753|PMID:34288098|PMID:34302356|PMID:34374989|PMID:34426522|PMID:34440436|PMID:34540776|PMID:34554397|PMID:34712575|PMID:34800199|PMID:35068126|PMID:35186388|PMID:35762438|PMID:35936646|PMID:36194207|PMID:36233161|PMID:36265282|PMID:36700853|PMID:36907859|PMID:3754980|PMID:37597066|PMID:37645600|PMID:37754769|PMID:38112342|PMID:38165373|PMID:38168508|PMID:38277958|PMID:3837850|PMID:38730490|PMID:39039281|PMID:39609393|PMID:40172712|PMID:6959123|PMID:7551830|PMID:7717398|PMID:7749419|PMID:7827134|PMID:7837766|PMID:7858168|PMID:7898712|PMID:7902672|PMID:7951261|PMID:8044648|PMID:8081943|PMID:8111418|PMID:8123671|PMID:8198136|PMID:8328462|PMID:8328470|PMID:8397824|PMID:8444467|PMID:8445615|PMID:8484765|PMID:8490625|PMID:8672428|PMID:8673609|PMID:8730294|PMID:8995368|PMID:9090523|PMID:9090529|PMID:9150157|PMID:9153525|PMID:9169471|PMID:9222766|PMID:9272736|PMID:9338583|PMID:9375850|PMID:9401008|PMID:9536098|PMID:9603435|PMID:9694901|PMID:9851891
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:3321	GM2 gangliosidosis		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GM2-GANGLIOSIDOSIS, LATE ONSET	PMID:28492532|PMID:8757036
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:480	movement disease		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10083731|PMID:11317368|PMID:1302612|PMID:14577003|PMID:16088929|PMID:17259242|PMID:22723944|PMID:24498621|PMID:24518553|PMID:24583203|PMID:24940364|PMID:25741868|PMID:28492532|PMID:29352662|PMID:33751187|PMID:34554397|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:23852624
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10083731|PMID:1322637|PMID:16088929|PMID:2141777|PMID:24518553|PMID:28492532|PMID:31388111|PMID:33547378|PMID:7858168|PMID:8490625|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9003539	Hyperacusis		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:23852624|PMID:25741868
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10083731|PMID:12108829|PMID:1301937|PMID:1302612|PMID:1384323|PMID:14577003|PMID:16088929|PMID:17259242|PMID:1833974|PMID:21567908|PMID:22723944|PMID:22789865|PMID:23852624|PMID:24518553|PMID:24940364|PMID:25741868|PMID:26467025|PMID:27896118|PMID:28492532|PMID:29352662|PMID:33547378|PMID:33751187|PMID:34426522|PMID:34554397|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8328470|PMID:8490625|PMID:8995368|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9004866	Ataxia		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9005077	Joint Instability		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10083731|PMID:1302612|PMID:1322637|PMID:14566483|PMID:14577003|PMID:16088929|PMID:17259242|PMID:2141777|PMID:22723944|PMID:23852624|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:29352662|PMID:31076878|PMID:31388111|PMID:33240792|PMID:33547378|PMID:33751187|PMID:34554397|PMID:34800199|PMID:38112342|PMID:38168508|PMID:38277958|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8490625|PMID:8730294|PMID:8995368|PMID:9169471|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9006548	Gm2-Gangliosidosis, Variant B1		ISO	RGD:1352150	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: GM2-GANGLIOSIDOSIS, B1 VARIANT	PMID:1532289
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352150	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10083731|PMID:1302612|PMID:14577003|PMID:16088929|PMID:17259242|PMID:22723944|PMID:24518553|PMID:24940364|PMID:25741868|PMID:28492532|PMID:29352662|PMID:33751187|PMID:34554397|PMID:39039281|PMID:39609393|PMID:7858168|PMID:8490625|PMID:8995368|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9007736	Vertigo		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10083731|PMID:1322637|PMID:16088929|PMID:2141777|PMID:24518553|PMID:28492532|PMID:31388111|PMID:33547378|PMID:7858168|PMID:8490625|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:936	brain disease		ISO	RGD:1352150	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10083731|PMID:1322637|PMID:16088929|PMID:2141777|PMID:24518553|PMID:28492532|PMID:31388111|PMID:33547378|PMID:7858168|PMID:8490625|PMID:9338583
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060351	HEXA	hexosaminidase subunit alpha	gene	DOID:9834	hyperopia		ISO	RGD:1352150	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:12108829|PMID:1301937|PMID:1384323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34426522|PMID:8328470|PMID:9169471
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:1324	lung cancer		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:1909	melanoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:2394	ovarian cancer		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731699	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731699	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731699	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060372	SLC15A2	solute carrier family 15 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060398	ZNF202	zinc finger protein 202	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060398	ZNF202	zinc finger protein 202	gene	DOID:1115	sarcoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060398	ZNF202	zinc finger protein 202	gene	DOID:1324	lung cancer		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060398	ZNF202	zinc finger protein 202	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060398	ZNF202	zinc finger protein 202	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:31517061|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16225172|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:29478820|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30609409|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: Carnitine palmitoyltransferase deficiency type 2	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:36109795|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30476936|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:36109795|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12200419|PMID:12362414|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:20952238|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26010953|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:26636822|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28074886|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30476936|PMID:30609409|PMID:30881520|PMID:30912279|PMID:30957255|PMID:31372341|PMID:31501239|PMID:31770251|PMID:32295037|PMID:32411386|PMID:32489884|PMID:32528171|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34626609|PMID:35360862|PMID:36109795|PMID:38168614|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:12410208|PMID:12560872|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:1999498|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26436962|PMID:26467025|PMID:26537576|PMID:27374853|PMID:27525900|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31235404|PMID:31372341|PMID:31541997|PMID:31770251|PMID:31791368|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:32928639|PMID:33123633|PMID:33532864|PMID:33610471|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34975387|PMID:35028265|PMID:35281663|PMID:35360862|PMID:35948506|PMID:36109795|PMID:36696737|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38544359|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:8358442|PMID:8651281|PMID:8682496|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11477613|PMID:12410208|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26436962|PMID:26467025|PMID:26537576|PMID:27374853|PMID:27525900|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28801073|PMID:28871440|PMID:29429925|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31235404|PMID:31372341|PMID:31541997|PMID:31770251|PMID:31791368|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:32928639|PMID:33123633|PMID:33532864|PMID:33610471|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34975387|PMID:35028265|PMID:35281663|PMID:35360862|PMID:35948506|PMID:36109795|PMID:36696737|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38544359|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:8651281|PMID:8682496|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060235	carnitine palmitoyltransferase II deficiency		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal | ClinVar Annotator: match by term: carnitine palmitoyltransferase II deficiency	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11257506|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:12809643|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17651973|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:19763152|PMID:20301431|PMID:20307669|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22406018|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23475205|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25604974|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27374853|PMID:27525900|PMID:27629963|PMID:27974123|PMID:28054946|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28747690|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30476936|PMID:30514913|PMID:30609409|PMID:30881520|PMID:30897730|PMID:30912279|PMID:30957255|PMID:31191612|PMID:31235404|PMID:31372341|PMID:31541997|PMID:31770251|PMID:32295037|PMID:32447334|PMID:32489884|PMID:32528171|PMID:32901917|PMID:32928639|PMID:33123633|PMID:33532864|PMID:34063237|PMID:34112556|PMID:34394177|PMID:34449523|PMID:34539730|PMID:34626609|PMID:34975387|PMID:35028265|PMID:35360862|PMID:35948506|PMID:36109795|PMID:36696737|PMID:37032731|PMID:37510298|PMID:37541188|PMID:37925743|PMID:38168614|PMID:38650450|PMID:39429887|PMID:39653856|PMID:39875687|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0080000	muscular disease		ISO	RGD:736835	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:18380285
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:0080000	muscular disease		ISO	RGD:736835	D	RGD:9068941	20250508	RGD		variable myopathy, R503C	PMID:10873395|REF_RGD_ID:734814
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:10579	leukodystrophy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1059	intellectual disability		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:10969	hemiplegia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hemiplegia/hemiparesis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:12849	autistic disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1307	dementia		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1459	hypothyroidism		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12673791|PMID:17709715|PMID:18363739|PMID:20301431|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1826	epilepsy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18363739|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21913903|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:32489884|PMID:34539730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18363739|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21913903|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:32489884|PMID:34539730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:219	colon cancer		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:2234	focal epilepsy		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:736835	D	RGD:9068941	20200609	RGD		infantile form CPT2 deficiency, OMIM:600649, R631C	PMID:1528846|REF_RGD_ID:1600742
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:423	myopathy		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cyclical neutropenia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:535	sleep disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17651973|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:34112556|PMID:37510298|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9000495	Tremor		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9001501	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal		ISO	RGD:736835	D	RGD:7240710	20260805	OMIM			
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9001501	Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ANTENATAL | ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: CPT2 DEFICIENCY, LETHAL NEONATAL | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, lethal neonatal	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27525900|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31191612|PMID:31372341|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:38650450|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:736835	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21816645
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007402	Gliosis		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007573	Flatfoot		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007623	Late-Onset Carnitine Palmitoyltransferase II Deficiency		ISO	RGD:736835	D	RGD:7240710	20260805	OMIM			
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007623	Late-Onset Carnitine Palmitoyltransferase II Deficiency		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:11257506|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18645163|PMID:18925671|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31191612|PMID:31372341|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:38650450|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007668	Carnitine Palmitoyltransferase II Deficiency, Infantile		ISO	RGD:736835	D	RGD:7240710	20260805	OMIM			
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9007668	Carnitine Palmitoyltransferase II Deficiency, Infantile		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: CPT2 DEFICIENCY, INFANTILE | ClinVar Annotator: match by term: Carnitine palmitoyltransferase II deficiency, infantile	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17576681|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20661589|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22841441|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:23757202|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31191612|PMID:31372341|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34539730|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9536098|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9008214	Genu Valgum		ISO	RGD:736835	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:10090476|PMID:10607472|PMID:11257506|PMID:12673791|PMID:12707442|PMID:15642848|PMID:16615913|PMID:18550408|PMID:18925671|PMID:24398345|PMID:24602495|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34063237|PMID:39875687
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9009375	Encephalopathy, acute, infection-induced, 4		ISO	RGD:736835	D	RGD:7240710	20260805	OMIM			
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9009375	Encephalopathy, acute, infection-induced, 4		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CPT2-related disorder	PMID:10090476|PMID:10873395|PMID:12673791|PMID:17372854|PMID:17936304|PMID:19762733|PMID:21913903|PMID:23475205|PMID:25741868|PMID:26467025|PMID:28492532
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:93	language disorder		ISO	RGD:736835	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:12673791|PMID:18363739|PMID:21227726|PMID:22854105|PMID:23700290|PMID:25741868|PMID:25919294|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:32489884|PMID:34539730|PMID:8682496|PMID:9600456
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:7240710	20260805	OMIM			
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10862092|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:19762733|PMID:20301431|PMID:20810031|PMID:21227726|PMID:21709843|PMID:21913903|PMID:22652984|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28779239|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31372341|PMID:32295037|PMID:32528171|PMID:33123633|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:34063237|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10734268|PMID:10862092|PMID:1086878|PMID:10868782|PMID:10873395|PMID:11477613|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12410208|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15363638|PMID:15622536|PMID:15642848|PMID:15754283|PMID:15776096|PMID:15811315|PMID:16168441|PMID:16199547|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18577113|PMID:18645163|PMID:18925671|PMID:19239046|PMID:19762733|PMID:20301431|PMID:20543534|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21709843|PMID:21913903|PMID:22494076|PMID:22652984|PMID:22841441|PMID:22854105|PMID:22899091|PMID:22975760|PMID:23184072|PMID:23322164|PMID:23700290|PMID:23757202|PMID:23911907|PMID:24033266|PMID:24398345|PMID:24503134|PMID:24517888|PMID:24563797|PMID:24602495|PMID:25326635|PMID:25604974|PMID:25741868|PMID:25827434|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:26537576|PMID:27067077|PMID:27123472|PMID:27578510|PMID:2762996|PMID:27629963|PMID:27974123|PMID:28492532|PMID:28516040|PMID:28529889|PMID:28600779|PMID:28649538|PMID:28779239|PMID:28801073|PMID:28871440|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30094188|PMID:30149802|PMID:30293990|PMID:30455135|PMID:30609409|PMID:30957255|PMID:31372341|PMID:31770251|PMID:32295037|PMID:32489884|PMID:32528171|PMID:33123633|PMID:34063237|PMID:34112556|PMID:736528|PMID:7711730|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9562964|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11855939|PMID:12673791|PMID:12707442|PMID:14605500|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15811315|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17709715|PMID:17936304|PMID:18306170|PMID:18363739|PMID:18550408|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:20934285|PMID:21227726|PMID:21697855|PMID:21913903|PMID:22494076|PMID:22854105|PMID:23700290|PMID:23757202|PMID:24398345|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28801073|PMID:29429925|PMID:29552494|PMID:30455135|PMID:31372341|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:38650450|PMID:39429887|PMID:39875687|PMID:8358442|PMID:8651281|PMID:8682496|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:936	brain disease		ISO	RGD:736835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, susceptibility to, 4	PMID:10090476|PMID:10398215|PMID:10607472|PMID:10734268|PMID:10862092|PMID:10873395|PMID:11257506|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14605500|PMID:14615409|PMID:1528846|PMID:15642848|PMID:15754283|PMID:15776096|PMID:16168441|PMID:16615913|PMID:16781677|PMID:16996287|PMID:17372854|PMID:17651973|PMID:17936304|PMID:18363739|PMID:18550408|PMID:18645163|PMID:18925671|PMID:19762733|PMID:20301431|PMID:20810031|PMID:20830526|PMID:21227726|PMID:21913903|PMID:22494076|PMID:22854105|PMID:22975760|PMID:23184072|PMID:23700290|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:25919294|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28516040|PMID:28747690|PMID:28779239|PMID:28801073|PMID:29429925|PMID:2947882|PMID:29478820|PMID:29552494|PMID:29744303|PMID:30149802|PMID:30455135|PMID:30609409|PMID:31191612|PMID:31372341|PMID:32295037|PMID:32489884|PMID:34063237|PMID:34112556|PMID:34539730|PMID:38650450|PMID:39875687|PMID:835844|PMID:8358442|PMID:8651281|PMID:8682496|PMID:8786066|PMID:9309694|PMID:9600456|PMID:9758712
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9406	hypopituitarism		ISO	RGD:736835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:25741868
12060417	CPT2	carnitine palmitoyltransferase 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736835	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10090476|PMID:10398215|PMID:10862092|PMID:11855939|PMID:11994355|PMID:12362414|PMID:12673791|PMID:12707442|PMID:14615409|PMID:15642848|PMID:15776096|PMID:16168441|PMID:16996287|PMID:17936304|PMID:18550408|PMID:20301431|PMID:20810031|PMID:21913903|PMID:22975760|PMID:23184072|PMID:24033266|PMID:24398345|PMID:24563797|PMID:24602495|PMID:25741868|PMID:26467025|PMID:2647738|PMID:26477380|PMID:27067077|PMID:27123472|PMID:27629963|PMID:28492532|PMID:28779239|PMID:2947882|PMID:29478820|PMID:29744303|PMID:30149802|PMID:30609409|PMID:31191612|PMID:32295037|PMID:835844|PMID:8358442|PMID:8651281|PMID:8786066|PMID:9309694|PMID:9600456
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:735222	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea	PMID:21219967|REF_RGD_ID:10766449
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060430	NOB1	NIN1 (RPN12) binding protein 1 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1603053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733161	D	RGD:9068941	20231012	MouseDO			
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:0070377	developmental and epileptic encephalopathy 96		ISO	RGD:733160	D	RGD:7240710	20210616	OMIM			
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:621594	D	RGD:9068941	20200609	RGD		protein:increased expression:forebrain, postsynaptic density	PMID:11226670|REF_RGD_ID:5147998
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:9006575	Vitamin E Deficiency		ISO	RGD:621594	D	RGD:9068941	20250619	RGD		protein:decreased expression:brain:	PMID:23995663|REF_RGD_ID:616572803
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:9007480	Hyperoxia	treatment	ISO	RGD:621594	D	RGD:9068941	20250619	RGD			PMID:23995663|REF_RGD_ID:616572803
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:9008023	Memory Disorders		ISO	RGD:621594	D	RGD:9068941	20250719	RGD		associated with status epilepticus;mRNA,protein:decreased expression:hippocampus	PMID:16039622|REF_RGD_ID:617212718
12060443	NSF	N-ethylmaleimide sensitive factor, vesicle fusing ATPase	gene	DOID:9975	cocaine dependence	onset	ISO	RGD:733160	D	RGD:9068941	20250619	RGD		DNA:CNV,haplotype:exons: rs183211, rs17698176(human)	PMID:27498889|REF_RGD_ID:616572760
12060472	TBX5	T-box transcription factor 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1313887	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868
12060472	TBX5	T-box transcription factor 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313887	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12060472	TBX5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:7240710	20180130	OMIM			
12060472	TBX5	T-box transcription factor 5	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1313887	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOLT-ORAM SYNDROME | ClinVar Annotator: match by term: Heart-hand syndrome, type 1 | ClinVar Annotator: match by term: Holt-Oram Syndrome | ClinVar Annotator: match by term: Holt-Oram syndrome | ClinVar Annotator: match by term: TBX5-related condition	PMID:10077612|PMID:10077762|PMID:11183182|PMID:11431700|PMID:11555635|PMID:12499378|PMID:12624158|PMID:12789647|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16380715|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20450920|PMID:20519243|PMID:21637475|PMID:21897873|PMID:24033266|PMID:24664498|PMID:25216260|PMID:25260786|PMID:25263169|PMID:25623069|PMID:25680289|PMID:25741868|PMID:25931334|PMID:25963046|PMID:26219450|PMID:26401820|PMID:26490186|PMID:26859351|PMID:26938784|PMID:27652283|PMID:28492532|PMID:29451098|PMID:29755943|PMID:30143665|PMID:30538526|PMID:30552424|PMID:31116477|PMID:31215120|PMID:31502745|PMID:32236096|PMID:34426522|PMID:34917776|PMID:38336121|PMID:8988164|PMID:8988165|PMID:9536098
12060472	TBX5	T-box transcription factor 5	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
12060472	TBX5	T-box transcription factor 5	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aortic valve disease 2	PMID:10077612|PMID:11183182|PMID:12499378|PMID:12789647|PMID:15096952|PMID:15355425|PMID:15710732|PMID:16183809|PMID:16199547|PMID:16917909|PMID:17534187|PMID:17576681|PMID:18451335|PMID:18706711|PMID:19648116|PMID:20519243|PMID:21637475|PMID:22382802|PMID:23713051|PMID:24664498|PMID:25260786|PMID:25263169|PMID:25500235|PMID:25623069|PMID:25640679|PMID:25680289|PMID:25691538|PMID:25741868|PMID:26219450|PMID:26401820|PMID:26749485|PMID:26859351|PMID:26938784|PMID:27722056|PMID:27788187|PMID:28492532|PMID:29755943|PMID:30538526|PMID:30552424|PMID:30821013|PMID:31983221|PMID:8988164|PMID:9536098
12060472	TBX5	T-box transcription factor 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy	PMID:16183809|PMID:16917909|PMID:25741868|PMID:28492532
12060472	TBX5	T-box transcription factor 5	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313887	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868|PMID:29555671
12060472	TBX5	T-box transcription factor 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
12060472	TBX5	T-box transcription factor 5	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313887	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12060472	TBX5	T-box transcription factor 5	gene	DOID:1909	melanoma		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060472	TBX5	T-box transcription factor 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1313887	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023|PMID:33576403
12060472	TBX5	T-box transcription factor 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060472	TBX5	T-box transcription factor 5	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1305702	D	RGD:9068941	20200609	RGD			PMID:23948075|REF_RGD_ID:7327215
12060472	TBX5	T-box transcription factor 5	gene	DOID:8466	retinal degeneration		ISO	RGD:1305702	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12060472	TBX5	T-box transcription factor 5	gene	DOID:9003591	Telecanthus		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
12060472	TBX5	T-box transcription factor 5	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:1305702	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12060472	TBX5	T-box transcription factor 5	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1313887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:16183809|PMID:16917909|PMID:21637475|PMID:24664498|PMID:25263169|PMID:25741868|PMID:28492532|PMID:8988164
12060472	TBX5	T-box transcription factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:0050457	Sertoli cell-only syndrome		ISO	RGD:1316905	D	RGD:9068941	20220825	MouseDO		OMIM:305700 | OMIM:400042	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1316904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:14227	azoospermia		ISO	RGD:1316904	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:3275	thymoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1316904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	
12060552	DMC1	DNA meiotic recombinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316904	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:3275	thymoma		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351557	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060573	GEMIN2	gem nuclear organelle associated protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060595	FPGT	fucose-1-phosphate guanylyltransferase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1342569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
12060627	TSPAN1	tetraspanin 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1354320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:15466003|PMID:17576681|PMID:17878207|PMID:17906881|PMID:18195152|PMID:18691338|PMID:19067344|PMID:19299310|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21727005|PMID:22323514|PMID:22554691|PMID:22995991|PMID:24033266|PMID:24123366|PMID:25326635|PMID:25333069|PMID:25741868|PMID:26467025|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1354320	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:35846108|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:8557835	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:15236414|PMID:16427280|PMID:17906881|PMID:21361872|PMID:25390965|PMID:25741868|PMID:26467025|PMID:28492532
12060627	TSPAN1	tetraspanin 1	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:8617310	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:11709191|PMID:12588800|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17559086|PMID:17878207|PMID:17881266|PMID:17906881|PMID:19299310|PMID:20816175|PMID:21447391|PMID:22323514|PMID:23326386|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26908613|PMID:26990548|PMID:27391550|PMID:27604308|PMID:28492532|PMID:30961548|PMID:31589614|PMID:31980526|PMID:33144682
12060627	TSPAN1	tetraspanin 1	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:10403909|RGD:10404161|RGD:10406706|RGD:11579560|RGD:11636589|RGD:11638110|RGD:11639130|RGD:11639681|RGD:11640284|RGD:11640845|RGD:11644079|RGD:126726806|RGD:126758283|RGD:126768167|RGD:12893722|RGD:13217039|RGD:13480686|RGD:13518342|RGD:13522390|RGD:13523106|RGD:13621292|RGD:13803378|RGD:13835794|RGD:13836220|RGD:14705744|RGD:14706773|RGD:14710628|RGD:14710727|RGD:150410332|RGD:150413742|RGD:150413747|RGD:151234623|RGD:15125546|RGD:15136300|RGD:15160455|RGD:151663456|RGD:151714168|RGD:151714999|RGD:151716490|RGD:151799626|RGD:151803868|RGD:151813936|RGD:156264636|RGD:156405339|RGD:26886621|RGD:28878705|RGD:38499795|RGD:40904548|RGD:9691368|RGD:9693238	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3	PMID:25741868|PMID:28492532
12060627	TSPAN1	tetraspanin 1	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:127253427|RGD:13789892|RGD:13791602|RGD:13792167|RGD:151713712|RGD:151714816|RGD:151715021|RGD:151724754|RGD:156012922|RGD:156392641|RGD:38499090|RGD:405081868|RGD:405090241	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O	PMID:16199547|PMID:19299310|PMID:20816175|PMID:21447391|PMID:26908613|PMID:27391550|PMID:28492532
12060627	TSPAN1	tetraspanin 1	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1354320	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1354320	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:15938569|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:23894383|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33144682|PMID:33200426|PMID:34324503|PMID:36819107|PMID:9536098
12060627	TSPAN1	tetraspanin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060627	TSPAN1	tetraspanin 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1354320	D	RGD:9068941	20200609	RGD			PMID:12115476|REF_RGD_ID:1331679
12060627	TSPAN1	tetraspanin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060627	TSPAN1	tetraspanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060725	ZNF184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12060725	ZNF184	zinc finger protein 184	gene	DOID:10283	prostate cancer		ISO	RGD:1312451	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12060725	ZNF184	zinc finger protein 184	gene	DOID:10534	stomach cancer		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060725	ZNF184	zinc finger protein 184	gene	DOID:1909	melanoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060725	ZNF184	zinc finger protein 184	gene	DOID:5041	esophageal cancer		ISO	RGD:1312451	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060725	ZNF184	zinc finger protein 184	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12060725	ZNF184	zinc finger protein 184	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12060755	WASF1	WASP family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1343996	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12060755	WASF1	WASP family member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12060755	WASF1	WASP family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060755	WASF1	WASP family member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12060755	WASF1	WASP family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060755	WASF1	WASP family member 1	gene	DOID:1826	epilepsy		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12060755	WASF1	WASP family member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12060755	WASF1	WASP family member 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
12060755	WASF1	WASP family member 1	gene	DOID:3275	thymoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060755	WASF1	WASP family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:630	genetic disease		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12060755	WASF1	WASP family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060755	WASF1	WASP family member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12060755	WASF1	WASP family member 1	gene	DOID:9001367	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES		ISO	RGD:1343996	D	RGD:7240710	20220323	OMIM			
12060755	WASF1	WASP family member 1	gene	DOID:9001367	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with absent language and variable seizures | ClinVar Annotator: match by term: WASF1-related condition | ClinVar Annotator: match by term: WASF1-related neurodevelopmental disorder	PMID:25741868|PMID:29961568|PMID:32581362
12060755	WASF1	WASP family member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12060755	WASF1	WASP family member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12060755	WASF1	WASP family member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12060755	WASF1	WASP family member 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12060755	WASF1	WASP family member 1	gene	DOID:936	brain disease		ISO	RGD:1343996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:1909	melanoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1323023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060778	EIF3E	eukaryotic translation initiation factor 3 subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:1909	melanoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1348440	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060795	TMX3	thioredoxin related transmembrane protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060815	SPCS1	signal peptidase complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060815	SPCS1	signal peptidase complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12060815	SPCS1	signal peptidase complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12060815	SPCS1	signal peptidase complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060815	SPCS1	signal peptidase complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:27270436|REF_RGD_ID:13831303
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:27270436|REF_RGD_ID:13831303
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:1612	breast cancer		ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:23512947|REF_RGD_ID:13831301
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:28977883|REF_RGD_ID:13831299
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:1909	melanoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:2841	asthma		ISO	RGD:1602231	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:19221603|REF_RGD_ID:13831295
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:3070	high grade glioma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:8466	retinal degeneration		ISO	RGD:70552	D	RGD:9068941	20260514	RGD		protein:increased expression:retina	PMID:34781030|REF_RGD_ID:713349440
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:733171	D	RGD:9068941	20200609	RGD			PMID:23526225|REF_RGD_ID:13831300
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9005372	Inflammation		ISO	RGD:70552	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:14622223|REF_RGD_ID:2315920
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70552	D	RGD:9068941	20200609	RGD			PMID:21136146|REF_RGD_ID:13831298
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9007925	Sudden Cardiac Death	disease_progression	ISO	RGD:1602231	D	RGD:9068941	20200609	RGD			PMID:22661490|REF_RGD_ID:13831296
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060823	ACSL3	acyl-CoA synthetase long chain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602231	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:0111414	trichohepatoenteric syndrome		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Tricho-hepato-enteric syndrome | ClinVar Annotator: match by term: Trichohepatoenteric syndrome	PMID:16199547|PMID:20176027|PMID:21120949|PMID:24033266|PMID:25741868|PMID:26283345|PMID:26945392|PMID:27050310|PMID:28492532|PMID:32499645|PMID:35366317|PMID:35626323
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1314461	D	RGD:7240710	20180130	OMIM			
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:0111415	trichohepatoenteric syndrome 1		ISO	RGD:1314461	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: TRICHOHEPATOENTERIC SYNDROME 1 | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1	PMID:16199547|PMID:20176027|PMID:21120949|PMID:23326254|PMID:23974064|PMID:25714577|PMID:25741868|PMID:26283345|PMID:26945392|PMID:27050310|PMID:27302973|PMID:28492532|PMID:29527791|PMID:32499645|PMID:33864888|PMID:35108801|PMID:35366317|PMID:35599849|PMID:35626323
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:10283	prostate cancer		ISO	RGD:1314461	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:10283	prostate cancer		ISO	RGD:1314461	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:10534	stomach cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:1115	sarcoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:12642	hiatus hernia		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatal hernia	PMID:25741868
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:1324	lung cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:1909	melanoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:16199547|PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532|PMID:32499645
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:630	genetic disease		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20176027|PMID:21120949|PMID:25741868|PMID:28492532
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060842	SKIC3	SKI3 subunit of superkiller complex	gene	DOID:9256	colorectal cancer		ISO	RGD:1314461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12060905	TMEM219	transmembrane protein 219	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060905	TMEM219	transmembrane protein 219	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060905	TMEM219	transmembrane protein 219	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1604542	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12060905	TMEM219	transmembrane protein 219	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060905	TMEM219	transmembrane protein 219	gene	DOID:1115	sarcoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060905	TMEM219	transmembrane protein 219	gene	DOID:4362	cervical cancer		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060905	TMEM219	transmembrane protein 219	gene	DOID:5041	esophageal cancer		ISO	RGD:1604542	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060905	TMEM219	transmembrane protein 219	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12060905	TMEM219	transmembrane protein 219	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060905	TMEM219	transmembrane protein 219	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060905	TMEM219	transmembrane protein 219	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060935	TSSK4	testis specific serine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060935	TSSK4	testis specific serine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060935	TSSK4	testis specific serine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:1115	sarcoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:1324	lung cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:3275	thymoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1318583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12060945	PAPOLA	poly(A) polymerase alpha	gene	DOID:9256	colorectal cancer		ISO	RGD:1318583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12060975	SHROOM1	shroom family member 1	gene	DOID:0060058	lymphoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1605292	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12060975	SHROOM1	shroom family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12060975	SHROOM1	shroom family member 1	gene	DOID:1909	melanoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:3275	thymoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605292	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12060975	SHROOM1	shroom family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12060975	SHROOM1	shroom family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12060987	FZD1	frizzled class receptor 1	gene	DOID:3459	breast carcinoma		ISO	RGD:736261	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor	PMID:15492823|REF_RGD_ID:2298699
12060992	IGF2	insulin like growth factor 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:20683203|REF_RGD_ID:5509948
12060992	IGF2	insulin like growth factor 2	gene	DOID:0050589	inflammatory bowel disease	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12548059|REF_RGD_ID:5509968
12060992	IGF2	insulin like growth factor 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16092956
12060992	IGF2	insulin like growth factor 2	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:18505416|REF_RGD_ID:5510002
12060992	IGF2	insulin like growth factor 2	gene	DOID:0080006	bone development disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
12060992	IGF2	insulin like growth factor 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:19207313|REF_RGD_ID:12910858
12060992	IGF2	insulin like growth factor 2	gene	DOID:0110741	type 1 diabetes mellitus 2		ISO	RGD:10770	D	RGD:9068941	20240425	MouseDO		OMIM:125852	
12060992	IGF2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:24887203|REF_RGD_ID:10045934
12060992	IGF2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:16627931|REF_RGD_ID:5509963
12060992	IGF2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15750215
12060992	IGF2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:24685003|REF_RGD_ID:10402559
12060992	IGF2	insulin like growth factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:21040071|REF_RGD_ID:10402558
12060992	IGF2	insulin like growth factor 2	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:12162999|REF_RGD_ID:10402555
12060992	IGF2	insulin like growth factor 2	gene	DOID:12217	Lewy body dementia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12060992	IGF2	insulin like growth factor 2	gene	DOID:12217	Lewy body dementia		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:frontal cortex	PMID:19276553|REF_RGD_ID:5129515
12060992	IGF2	insulin like growth factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17547689
12060992	IGF2	insulin like growth factor 2	gene	DOID:14183	alcoholic neuropathy		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:23016131|REF_RGD_ID:10402569
12060992	IGF2	insulin like growth factor 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12060992	IGF2	insulin like growth factor 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:frontal cortex	PMID:19276553|REF_RGD_ID:5129515
12060992	IGF2	insulin like growth factor 2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19066168
12060992	IGF2	insulin like growth factor 2	gene	DOID:1561	cognitive disorder		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21270887
12060992	IGF2	insulin like growth factor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:737149	D	RGD:9068941	20231221	RGD		protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
12060992	IGF2	insulin like growth factor 2	gene	DOID:1612	breast cancer		ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:18719053|REF_RGD_ID:2311512
12060992	IGF2	insulin like growth factor 2	gene	DOID:1657	ventricular septal defect	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:21238444|REF_RGD_ID:13204804
12060992	IGF2	insulin like growth factor 2	gene	DOID:1936	atherosclerosis		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11726660
12060992	IGF2	insulin like growth factor 2	gene	DOID:2154	nephroblastoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8252039
12060992	IGF2	insulin like growth factor 2	gene	DOID:2355	anemia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12090760
12060992	IGF2	insulin like growth factor 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage	PMID:10417663|REF_RGD_ID:5510017
12060992	IGF2	insulin like growth factor 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7981680
12060992	IGF2	insulin like growth factor 2	gene	DOID:3454	brain infarction		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:7770004|REF_RGD_ID:5509999
12060992	IGF2	insulin like growth factor 2	gene	DOID:3594	choriocarcinoma	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:elevated IGF-II increased choriocarcinoma cell invasion via activation of INSR	PMID:17556377|REF_RGD_ID:2290454
12060992	IGF2	insulin like growth factor 2	gene	DOID:3827	congenital diaphragmatic hernia	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:24352370|REF_RGD_ID:10402563
12060992	IGF2	insulin like growth factor 2	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21521927|PMID:23417626
12060992	IGF2	insulin like growth factor 2	gene	DOID:4752	multiple system atrophy	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:20683839|REF_RGD_ID:5509960
12060992	IGF2	insulin like growth factor 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with non-alcoholic fatty liver disease;protein:decreased expression:plasma	PMID:28650518|REF_RGD_ID:14401722
12060992	IGF2	insulin like growth factor 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:38597876|RGD:598199134	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: KCNQ1-related condition	PMID:25741868
12060992	IGF2	insulin like growth factor 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:737149	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:8252039|PMID:9349812
12060992	IGF2	insulin like growth factor 2	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:11232005|REF_RGD_ID:5509969
12060992	IGF2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:17554210|REF_RGD_ID:2311523
12060992	IGF2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12532445|PMID:16092956
12060992	IGF2	insulin like growth factor 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:SNPs:intron, 3'utr:+2482A>C, +820A>G (human)	PMID:16750516|REF_RGD_ID:14401723
12060992	IGF2	insulin like growth factor 2	gene	DOID:687	hepatoblastoma		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23958494
12060992	IGF2	insulin like growth factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		DNA:loss of imprinting:synovial cell	PMID:19556211|REF_RGD_ID:5510001
12060992	IGF2	insulin like growth factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:11247331|REF_RGD_ID:5510014
12060992	IGF2	insulin like growth factor 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16477536|REF_RGD_ID:5509964
12060992	IGF2	insulin like growth factor 2	gene	DOID:780	placenta disease		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12087403
12060992	IGF2	insulin like growth factor 2	gene	DOID:8398	osteoarthritis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:22527881|REF_RGD_ID:10402552
12060992	IGF2	insulin like growth factor 2	gene	DOID:8488	polyhydramnios		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
12060992	IGF2	insulin like growth factor 2	gene	DOID:8577	ulcerative colitis	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16088202|REF_RGD_ID:5509966
12060992	IGF2	insulin like growth factor 2	gene	DOID:9000310	Lung Injury		ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:9160836|REF_RGD_ID:5509974
12060992	IGF2	insulin like growth factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
12060992	IGF2	insulin like growth factor 2	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11213353|REF_RGD_ID:5509971
12060992	IGF2	insulin like growth factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		associated with Arthritis, Experimental; protein:increased expression:lung, bone, serum:	PMID:21859454|REF_RGD_ID:5510000
12060992	IGF2	insulin like growth factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:11123717|REF_RGD_ID:5509972
12060992	IGF2	insulin like growth factor 2	gene	DOID:9001586	Experimental Liver Neoplasms	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:22425635|REF_RGD_ID:10402567
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002163	Silver-Russell Syndrome 3		ISO	RGD:737149	D	RGD:7240710	20180130	OMIM			
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; mRNA:decreased expression:neural tissue, liver:	PMID:9336345|REF_RGD_ID:5510019
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		associates with Diabetes Mellitus; mRNA:decreased expression:brain:	PMID:8764603|REF_RGD_ID:5510022
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:9336345|REF_RGD_ID:5510019
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:altered expresssion:liver,placenta:	PMID:1408464|REF_RGD_ID:14985247
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12087403|PMID:16040806
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15057734
12060992	IGF2	insulin like growth factor 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24667322
12060992	IGF2	insulin like growth factor 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12060992	IGF2	insulin like growth factor 2	gene	DOID:9003676	Brain Hypoxia-Ischemia	disease_progression	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16787587|REF_RGD_ID:5510005
12060992	IGF2	insulin like growth factor 2	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:737149	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:multiple	PMID:16750516|REF_RGD_ID:14401723
12060992	IGF2	insulin like growth factor 2	gene	DOID:9004914	Postmenopausal Osteoporosis	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:16753016|REF_RGD_ID:10402556
12060992	IGF2	insulin like growth factor 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		DNA:methylation: :	PMID:18778817|REF_RGD_ID:5509951
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypermethylation, decreased expression	PMID:18724775|REF_RGD_ID:2311511
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD		protein:increased expression:oviduct	PMID:18676006|REF_RGD_ID:2311502
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:10686593|REF_RGD_ID:5509973
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple	PMID:17184497|REF_RGD_ID:2311513
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:737149	D	RGD:9068941	20200609	RGD			PMID:23364485|REF_RGD_ID:10402565
12060992	IGF2	insulin like growth factor 2	gene	DOID:9005834	Ependymomas		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebellum	PMID:18478565|REF_RGD_ID:5509961
12060992	IGF2	insulin like growth factor 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9349812
12060992	IGF2	insulin like growth factor 2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		DNA:insertion	PMID:18418699|REF_RGD_ID:2311520
12060992	IGF2	insulin like growth factor 2	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:12927688|REF_RGD_ID:5509967
12060992	IGF2	insulin like growth factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12127304
12060992	IGF2	insulin like growth factor 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21270887
12060992	IGF2	insulin like growth factor 2	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2870	D	RGD:9068941	20200609	RGD			PMID:24012657|REF_RGD_ID:10402554
12060992	IGF2	insulin like growth factor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12637750
12060992	IGF2	insulin like growth factor 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10370016
12060992	IGF2	insulin like growth factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10770	D	RGD:9068941	20200609	RGD			PMID:10727441|REF_RGD_ID:5510004
12060992	IGF2	insulin like growth factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:17476475|REF_RGD_ID:2311504
12060992	IGF2	insulin like growth factor 2	gene	DOID:9471	meningitis		ISO	RGD:737149	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:7521338|REF_RGD_ID:5510023
12060992	IGF2	insulin like growth factor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2870	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:thymus	PMID:11307180|REF_RGD_ID:5510007
12060992	IGF2	insulin like growth factor 2	gene	DOID:9970	obesity		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11528401
12060992	IGF2	insulin like growth factor 2	gene	DOID:9993	hypoglycemia		ISO	RGD:737149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3185662
12061020	AMMECR1L	AMMECR1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:1115	sarcoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:1909	melanoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061020	AMMECR1L	AMMECR1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:1324	lung cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:3275	thymoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:4362	cervical cancer		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061052	EPS8L1	EPS8 signaling adaptor L1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316240	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:1316240	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:3275	thymoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061088	SBNO2	strawberry notch homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0050157	cryptogenic organizing pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, lymphocyte (human)	PMID:21144722|REF_RGD_ID:5131112
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:23389459|REF_RGD_ID:7245475
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:22846145|REF_RGD_ID:7245541
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:22674120|REF_RGD_ID:7245544
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20353583
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19)	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080745	polymyositis	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11055823|REF_RGD_ID:8661747
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21831964|REF_RGD_ID:7247422
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:10325	silicosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:11208652|REF_RGD_ID:5131150
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:10457	Legionnaires' disease		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:18838275|REF_RGD_ID:5131445
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:10591	pre-eclampsia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21505354|REF_RGD_ID:5131211
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:20110607|REF_RGD_ID:13825249
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid:	PMID:21978728|REF_RGD_ID:13825268
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:1074	kidney failure	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Neoplasms, Plasma Cell	PMID:9650354|REF_RGD_ID:7245537
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:19916860|REF_RGD_ID:5131423
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:21512145|REF_RGD_ID:5131206
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:11394	adult respiratory distress syndrome	severity	ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:11159038|REF_RGD_ID:5131147
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:11240015|REF_RGD_ID:5130963
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:11476	osteoporosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:17002564|REF_RGD_ID:1625350
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:1205	allergic disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16139734
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21221075|REF_RGD_ID:7245511
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:21508170|REF_RGD_ID:5131275
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:1380	endometrial cancer		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:8920779|REF_RGD_ID:5131439
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:14069	cerebral malaria		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:12228317|REF_RGD_ID:5131158
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:14330	Parkinson's disease		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:midbrain, dopaminergic neuron (mouse)	PMID:19780901|REF_RGD_ID:5130931
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:1520	colon carcinoma		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:1655258|REF_RGD_ID:5131434
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2316	brain ischemia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19825522|REF_RGD_ID:2315115
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:289	endometriosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21481092|REF_RGD_ID:5131251
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:289	endometriosis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21741153|REF_RGD_ID:7247423
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2921	glomerulonephritis		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:15841213|PMID:22449555|REF_RGD_ID:7245530|REF_RGD_ID:7245546
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:23400706|REF_RGD_ID:7245540
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16209246|REF_RGD_ID:6907414
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:9844059|REF_RGD_ID:6909132
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Acute Lung Injury	PMID:18074478|REF_RGD_ID:5128661
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Shock, Septic;protein:increased expression:serum	PMID:12500222|REF_RGD_ID:7245534
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:3021	acute kidney failure		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:12865254|REF_RGD_ID:7245532
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum (human)	PMID:21037022|REF_RGD_ID:5131154
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:399	tuberculosis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.*215C>T rs3397 (human)	PMID:20007930|REF_RGD_ID:5131209
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:399	tuberculosis		ISO	RGD:1298224	D	RGD:9068941	20260226	RGD		DNA:SNP:intron:rs496888	PMID:17284226|REF_RGD_ID:632527151
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:20566746|REF_RGD_ID:7245512
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1298224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5082	liver cirrhosis		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20353583
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5199	ureteral obstruction		ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:19541932|REF_RGD_ID:7245519
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5199	ureteral obstruction		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:10564241|REF_RGD_ID:7245536
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5327	retinal detachment		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:21402953|REF_RGD_ID:5131257
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		Idiopathic Pneumonia Syndrome	PMID:18664626|REF_RGD_ID:5131448
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung; DNA:snp:cds:p.M196R rs1061622 (human)	PMID:20811626|REF_RGD_ID:5131286
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:5844	myocardial infarction		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:left ventricle myocardium (rat)	PMID:21362018|REF_RGD_ID:5130892
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:6000	congestive heart failure		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21135513|REF_RGD_ID:5131262
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:8548330|REF_RGD_ID:12904035
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:6543	acne	susceptibility	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.M196R(human)	PMID:20861605|REF_RGD_ID:8553023
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:21317434|REF_RGD_ID:5131280
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:783	end stage renal disease		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:plasma	PMID:22266663|REF_RGD_ID:7245510
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage (human)	PMID:15929959|REF_RGD_ID:5131148
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:8541	Sezary's disease		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258847
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:8691	mycosis fungoides		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258847
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:874	bacterial pneumonia		ISO	RGD:731571	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (mouse)	PMID:19842848|REF_RGD_ID:5131429
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:8778	Crohn's disease		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:large intestine mucosa (rat)	PMID:21359923|REF_RGD_ID:5130893
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9000053	Headache		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21036476|REF_RGD_ID:5131274
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:carotid body, jugular ganglion, nodose ganglion (rat)	PMID:21195213|REF_RGD_ID:5130879
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal polyp (human)	PMID:19095579|REF_RGD_ID:5131442
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21224756|REF_RGD_ID:5130917
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:21224756|REF_RGD_ID:5130917
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9001916	Fetal Death		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Endotoxemia; human protein in rat model	PMID:21187445|REF_RGD_ID:5131261
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:serum	PMID:19073786|REF_RGD_ID:2311357
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	PMID:16408124|REF_RGD_ID:7245529
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002165	Diabetic Nephropathies	onset	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:22266664|REF_RGD_ID:7245476
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:22652595|REF_RGD_ID:8661750
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731571	D	RGD:9068941	20200609	RGD			PMID:18463260|REF_RGD_ID:5130960
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21463515|REF_RGD_ID:5131255
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:21690068|PMID:23052485|REF_RGD_ID:7245941|REF_RGD_ID:8661761
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15071724
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, granulocyte	PMID:19690440|REF_RGD_ID:7245518
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD			PMID:19298452|REF_RGD_ID:7245520
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9004283	Transplant Rejection		ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:19298452|REF_RGD_ID:7245520
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9005372	Inflammation		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21081778|REF_RGD_ID:5131265
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21481476|REF_RGD_ID:5131250
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:21057386|REF_RGD_ID:5131270
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9006617	Fatigue		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12140350|REF_RGD_ID:8661748
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621238	D	RGD:9068941	20241212	RGD		protein:decreased expression:hippocampus	PMID:23333565|REF_RGD_ID:7245573
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9007194	Sciatica	treatment	ISO	RGD:621238	D	RGD:9068941	20200609	RGD			PMID:22425187|REF_RGD_ID:7245944
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15044820
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:621238	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15164724|REF_RGD_ID:1580295
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9008569	Bronchial Spasm		ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid	PMID:19340514|REF_RGD_ID:5131441
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.M196R (human)	PMID:11607787|REF_RGD_ID:7245571
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1298224	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8393677|REF_RGD_ID:7245539
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1298224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11882518
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9849	Meniere's disease		ISO	RGD:1298224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:30311386
12061127	TNFRSF1B	TNF receptor superfamily member 1B	gene	DOID:9970	obesity		ISO	RGD:1298224	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11782876
12061141	SETD4	SET domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061141	SETD4	SET domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061141	SETD4	SET domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061141	SETD4	SET domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061141	SETD4	SET domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061141	SETD4	SET domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061229	RNF125	ring finger protein 125	gene	DOID:1324	lung cancer		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061229	RNF125	ring finger protein 125	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061229	RNF125	ring finger protein 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061229	RNF125	ring finger protein 125	gene	DOID:630	genetic disease		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12061229	RNF125	ring finger protein 125	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061229	RNF125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:7240710	20180130	OMIM			
12061229	RNF125	ring finger protein 125	gene	DOID:9000905	Tenorio Syndrome		ISO	RGD:1315557	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: RNF125-related condition | ClinVar Annotator: match by term: TENORIO SYNDROME | ClinVar Annotator: match by term: Tenorio syndrome	PMID:25196541|PMID:25741868|PMID:28492532|PMID:34196401
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0050562	West syndrome		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1313892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0061022	combined pituitary hormone deficiency 6		ISO	RGD:1313892	D	RGD:7240710	20180130	OMIM			
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0061022	combined pituitary hormone deficiency 6		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 6 | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 6	PMID:18728160|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1313892	D	RGD:7240710	20180130	OMIM			
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1313892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 5 | ClinVar Annotator: match by term: Syndromic microphthalmia type 5	PMID:15846561|PMID:16607563|PMID:18781617|PMID:19965921|PMID:20486942|PMID:22577225|PMID:22715480|PMID:24033328|PMID:24167467|PMID:24498598|PMID:25741868|PMID:27299576|PMID:28492532|PMID:28518168|PMID:31200363|PMID:32461654|PMID:32796691|PMID:33296094|PMID:3442652|PMID:36368868|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1313892	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:1059	intellectual disability		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:10629	microphthalmia		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia	PMID:15846561|PMID:16607563|PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:10907	microcephaly		ISO	RGD:1313892	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19965921|PMID:25741868|PMID:28492532
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1313892	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:540	strabismus		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313892	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15846561|PMID:16607563|PMID:20486942|PMID:22577225|PMID:24167467|PMID:28492532
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:1313892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12183386
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1313892	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Anophthalmia	PMID:25741868|PMID:29178648
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1313892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20573704
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22715480|PMID:25741868|PMID:28492532|PMID:33296094|PMID:3442652|PMID:38614076
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1313892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12061240	OTX2	orthodenticle homeobox 2	gene	DOID:9970	obesity		ISO	RGD:1313892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1324	lung cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:1909	melanoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:4362	cervical cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:630	genetic disease		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37194129
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:7240710	20210512	OMIM			
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9005217	ALZAHRANI-KUWAHARA SYNDROME		ISO	RGD:1602698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALZAHRANI-KUWAHARA SYNDROME | ClinVar Annotator: match by term: Alzahrani-Kuwahara syndrome | ClinVar Annotator: match by term: SMG8-related disorder	PMID:25741868
12061268	SMG8	SMG8 nonsense mediated mRNA decay factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1602698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061276	PDZD11	PDZ domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061291	THAP3	THAP domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061291	THAP3	THAP domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061291	THAP3	THAP domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061291	THAP3	THAP domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061291	THAP3	THAP domain containing 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1351040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12061291	THAP3	THAP domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061291	THAP3	THAP domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12061291	THAP3	THAP domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061291	THAP3	THAP domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061291	THAP3	THAP domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061291	THAP3	THAP domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061302	SSMEM1	serine rich single-pass membrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061310	DPEP2	dipeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061310	DPEP2	dipeptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313962	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061310	DPEP2	dipeptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061310	DPEP2	dipeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:0080000	muscular disease		ISO	RGD:730958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17600820
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:730958	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1176744(human)	PMID:20838391|REF_RGD_ID:6480660
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:1596	depressive disorder	susceptibility	ISO	RGD:730958	D	RGD:9068941	20200609	RGD			PMID:16487942|REF_RGD_ID:6480662
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:4362	cervical cancer		ISO	RGD:730958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:9000641	Pain		ISO	RGD:730958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17600820
12061339	HTR3B	5-hydroxytryptamine receptor 3B	gene	DOID:9005632	Cocaine-Related Disorders	susceptibility	ISO	RGD:730958	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1176744(human)	PMID:20838391|REF_RGD_ID:6480660
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1352175	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:3275	thymoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:863	nervous system disease		ISO	RGD:1352175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20805988
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352175	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20805988
12061352	ARFGAP1	ADP ribosylation factor GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061378	CCDC183	coiled-coil domain containing 183	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1350546	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12061395	ZNF165	zinc finger protein 165	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061395	ZNF165	zinc finger protein 165	gene	DOID:1909	melanoma		ISO	RGD:1342847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:0080600	COVID-19		ISO	RGD:1315843	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12061404	TDRD9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:7240710	20190410	OMIM			
12061404	TDRD9	tudor domain containing 9	gene	DOID:0111913	spermatogenic failure 30		ISO	RGD:1315843	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 30 | ClinVar Annotator: match by term: TDRD9-related condition	PMID:25741868|PMID:28492532
12061404	TDRD9	tudor domain containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:12336	male infertility		ISO	RGD:1315843	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
12061404	TDRD9	tudor domain containing 9	gene	DOID:14227	azoospermia		ISO	RGD:1315843	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
12061404	TDRD9	tudor domain containing 9	gene	DOID:1909	melanoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061404	TDRD9	tudor domain containing 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1315843	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061404	TDRD9	tudor domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061404	TDRD9	tudor domain containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061404	TDRD9	tudor domain containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061456	ZKSCAN8	zinc finger with KRAB and SCAN domains 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319074	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061456	ZKSCAN8	zinc finger with KRAB and SCAN domains 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061456	ZKSCAN8	zinc finger with KRAB and SCAN domains 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061456	ZKSCAN8	zinc finger with KRAB and SCAN domains 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061507	C1QTNF1	C1q and TNF related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061507	C1QTNF1	C1q and TNF related 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1350694	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12061507	C1QTNF1	C1q and TNF related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061507	C1QTNF1	C1q and TNF related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061532	CD24	CD24 molecule	gene	DOID:1793	pancreatic cancer		ISO	RGD:736340	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:28369074
12061532	CD24	CD24 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:736340	D	RGD:9068941	20210115	RGD			PMID:14657362|REF_RGD_ID:1358462
12061532	CD24	CD24 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736340	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12061544	KLF16	KLF transcription factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061544	KLF16	KLF transcription factor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061592	ZNF322	zinc finger protein 322	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061592	ZNF322	zinc finger protein 322	gene	DOID:3275	thymoma		ISO	RGD:1347331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0061039	autosomal dominant intellectual developmental disorder 66		ISO	RGD:732984	D	RGD:7240710	20220629	OMIM			
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0061039	autosomal dominant intellectual developmental disorder 66		ISO	RGD:732984	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: ATP2B1-related disorder | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 66 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 66	PMID:15178683|PMID:25741868|PMID:33057194|PMID:35358416
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:0070060	autosomal dominant intellectual developmental disorder 30		ISO	RGD:732984	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 30	PMID:25741868
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10534	stomach cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:732984	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10763	hypertension		ISO	RGD:621303	D	RGD:9068941	20200609	RGD		mRNA:increased expression:vascular associated smooth muscle cell	PMID:20137670|REF_RGD_ID:2317726
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:10763	hypertension		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430479
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1115	sarcoma		ISO	RGD:732984	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11714	gestational diabetes		ISO	RGD:732984	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11830	myopia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:11836	clubfoot		ISO	RGD:732984	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:12849	autistic disorder		ISO	RGD:732984	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1909	melanoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:1969	cerebral palsy		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:2030	anxiety disorder		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:2841	asthma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3275	thymoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3393	coronary artery disease		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22751097
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:4362	cervical cancer		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:630	genetic disease		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15178683|PMID:25741868|PMID:28492532|PMID:35358416
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:83	cataract		ISO	RGD:732984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15003327
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732984	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:35358416
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33057194|PMID:33077954|PMID:35358416
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9007736	Vertigo		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061606	ATP2B1	ATPase plasma membrane Ca2+ transporting 1	gene	DOID:9976	heroin dependence		ISO	RGD:621303	D	RGD:9068941	20241205	RGD		protein:decreased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:0060058	lymphoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553358	D	RGD:9068941	20200609	RGD			PMID:23211594|REF_RGD_ID:10401913
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:1115	sarcoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061647	ATP6V0E1	ATPase H+ transporting V0 subunit e1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:7240710	20180130	OMIM			
12061655	RBM28	RNA binding motif protein 28	gene	DOID:0112244	alopecia, neurologic defects, and endocrinopathy syndrome		ISO	RGD:1322736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANE syndrome | ClinVar Annotator: match by term: RBM28-related condition	PMID:25741868|PMID:28492532
12061655	RBM28	RNA binding motif protein 28	gene	DOID:10534	stomach cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:10907	microcephaly		ISO	RGD:1322736	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12061655	RBM28	RNA binding motif protein 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:1324	lung cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:3275	thymoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:6039	uveal melanoma		ISO	RGD:1322736	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061655	RBM28	RNA binding motif protein 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	
12061685	SNX13	sorting nexin 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061685	SNX13	sorting nexin 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061685	SNX13	sorting nexin 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061685	SNX13	sorting nexin 13	gene	DOID:1115	sarcoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061685	SNX13	sorting nexin 13	gene	DOID:1324	lung cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061685	SNX13	sorting nexin 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12061685	SNX13	sorting nexin 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061685	SNX13	sorting nexin 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12061685	SNX13	sorting nexin 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1320299	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061685	SNX13	sorting nexin 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061685	SNX13	sorting nexin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061685	SNX13	sorting nexin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061685	SNX13	sorting nexin 13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12061685	SNX13	sorting nexin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061685	SNX13	sorting nexin 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061685	SNX13	sorting nexin 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:1115	sarcoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:1324	lung cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:289	endometriosis		ISO	RGD:1347939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12061724	SMPDL3A	sphingomyelin phosphodiesterase acid like 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061740	GINS1	GINS complex subunit 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:0111993	immunodeficiency 55		ISO	RGD:1605108	D	RGD:7240710	20190315	OMIM			
12061740	GINS1	GINS complex subunit 1	gene	DOID:0111993	immunodeficiency 55		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to GINS1 deficiency | ClinVar Annotator: match by term: GINS1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 55	PMID:25741868|PMID:28414293|PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061740	GINS1	GINS complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061740	GINS1	GINS complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:12176	goiter		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:1596	depressive disorder		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:2841	asthma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061740	GINS1	GINS complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12061740	GINS1	GINS complex subunit 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12061740	GINS1	GINS complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061740	GINS1	GINS complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:0070307	craniolenticulosutural dysplasia		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniolenticulosutural dysplasia	PMID:25741868|PMID:30192042|PMID:38103548
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:1115	sarcoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061763	ERGIC2	ERGIC and golgi 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1316424	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy	PMID:25326637|PMID:25741868|PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1316424	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25326637|PMID:25741868|PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0112086	nuclear type mitochondrial complex I deficiency 26		ISO	RGD:1316424	D	RGD:7240710	20190315	OMIM			
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:0112086	nuclear type mitochondrial complex I deficiency 26		ISO	RGD:1316424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 26 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 26 | ClinVar Annotator: match by term: NDUFA9-related condition	PMID:25741868|PMID:28492532|PMID:28671271|PMID:32907636
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:10534	stomach cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:1115	sarcoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:1324	lung cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:3275	thymoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:3652	Leigh disease		ISO	RGD:1316424	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4362	cervical cancer		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:5041	esophageal cancer		ISO	RGD:1316424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:630	genetic disease		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061781	NDUFA9	NADH:ubiquinone oxidoreductase subunit A9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:3275	thymoma		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061796	ZFAND4	zinc finger AN1-type containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061816	PPP1R42	protein phosphatase 1 regulatory subunit 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606658	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061816	PPP1R42	protein phosphatase 1 regulatory subunit 42	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061816	PPP1R42	protein phosphatase 1 regulatory subunit 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:1909	melanoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:3275	thymoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:4362	cervical cancer		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061833	IGSF21	immunoglobin superfamily member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:0060058	lymphoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1347436	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:3275	thymoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:1347436	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4	PMID:25741868
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:9003760	Myalgia		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12061847	XIRP2	xin actin binding repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12061865	PJVK	pejvakin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061865	PJVK	pejvakin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1352291	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:17301963|PMID:17718875|PMID:19888295|PMID:21696384|PMID:25741868|PMID:28492532|PMID:30303587|PMID:32747562
12061865	PJVK	pejvakin	gene	DOID:0110511	autosomal recessive nonsyndromic deafness 59		ISO	RGD:1352291	D	RGD:7240710	20180130	OMIM			
12061865	PJVK	pejvakin	gene	DOID:0110511	autosomal recessive nonsyndromic deafness 59		ISO	RGD:1352291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 59 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 59 | ClinVar Annotator: match by term: PJVK-related disorder	PMID:16804542|PMID:17301963|PMID:17329413|PMID:17373699|PMID:17718875|PMID:19888295|PMID:21696384|PMID:23804846|PMID:24033266|PMID:25741868|PMID:27344577|PMID:28492532|PMID:28964305|PMID:30303587|PMID:30311386|PMID:32747562|PMID:35052489
12061865	PJVK	pejvakin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:16804542|PMID:17301963|PMID:17373699|PMID:17718875|PMID:19888295|PMID:21696384|PMID:25741868|PMID:27344577|PMID:28492532|PMID:30303587|PMID:32747562
12061865	PJVK	pejvakin	gene	DOID:12241	beta thalassemia		ISO	RGD:1352291	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Mediterranean anemia	PMID:17301963|PMID:17718875|PMID:22903915|PMID:28492532
12061865	PJVK	pejvakin	gene	DOID:1459	hypothyroidism		ISO	RGD:1352291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:16804542|PMID:17373699|PMID:25741868|PMID:27344577|PMID:28492532
12061865	PJVK	pejvakin	gene	DOID:630	genetic disease		ISO	RGD:1352291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30311386
12061865	PJVK	pejvakin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:16804542|PMID:17301963|PMID:17373699|PMID:17718875|PMID:19888295|PMID:21696384|PMID:25741868|PMID:27344577|PMID:28492532|PMID:30303587|PMID:30311386|PMID:32747562
12061865	PJVK	pejvakin	gene	DOID:9008681	Deafness		ISO	RGD:1352291	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:17301963|PMID:17718875|PMID:19888295|PMID:21696384|PMID:25741868|PMID:28492532|PMID:30303587|PMID:32747562
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314578	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12061878	ATF7IP2	activating transcription factor 7 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061894	ZNF76	zinc finger protein 76	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061894	ZNF76	zinc finger protein 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061894	ZNF76	zinc finger protein 76	gene	DOID:1324	lung cancer		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061894	ZNF76	zinc finger protein 76	gene	DOID:3070	high grade glioma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12061894	ZNF76	zinc finger protein 76	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12061894	ZNF76	zinc finger protein 76	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061894	ZNF76	zinc finger protein 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061894	ZNF76	zinc finger protein 76	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12061894	ZNF76	zinc finger protein 76	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354037	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:3275	thymoma		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1354037	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097064
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1354037	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs6982502) (human)	PMID:27599772|REF_RGD_ID:401794577
12061922	TRIB1	tribbles pseudokinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061929	LUM	lumican	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:1344357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
12061929	LUM	lumican	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:734193	D	RGD:9068941	20220825	MouseDO		OMIM:130000	
12061929	LUM	lumican	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1344357	D	RGD:9068941	20200609	RGD			PMID:17671699|REF_RGD_ID:2317682
12061929	LUM	lumican	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1344357	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2268578 (human)	PMID:19843670|REF_RGD_ID:2317230
12061929	LUM	lumican	gene	DOID:3393	coronary artery disease		ISO	RGD:1344357	D	RGD:9068941	20200609	RGD			PMID:11890723|REF_RGD_ID:1582121
12061929	LUM	lumican	gene	DOID:3407	carotid artery disease		ISO	RGD:1344357	D	RGD:9068941	20200609	RGD			PMID:15970583|REF_RGD_ID:1582117
12061929	LUM	lumican	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12061929	LUM	lumican	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
12061929	LUM	lumican	gene	DOID:5199	ureteral obstruction		ISO	RGD:620984	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12787392|REF_RGD_ID:2317694
12061929	LUM	lumican	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061929	LUM	lumican	gene	DOID:799	varicose veins		ISO	RGD:1344357	D	RGD:9068941	20200609	RGD			PMID:15871312|REF_RGD_ID:1582120
12061929	LUM	lumican	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620984	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:18482974|REF_RGD_ID:2317692
12061929	LUM	lumican	gene	DOID:9000784	Fibrosis		ISO	RGD:620984	D	RGD:9068941	20200609	RGD		associated with Pancreatitis;mRNA, protein:increased expression, altered localization:pancreas	PMID:12645630|REF_RGD_ID:724427
12061929	LUM	lumican	gene	DOID:9000784	Fibrosis		ISO	RGD:620984	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:1385211|REF_RGD_ID:2317695
12061929	LUM	lumican	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12061929	LUM	lumican	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1344357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24367547
12061929	LUM	lumican	gene	DOID:9006474	Arterial Occlusive Diseases	disease_progression	ISO	RGD:1344357	D	RGD:9068941	20230831	RGD		mRNA:increased expression:leg blood vessel (human)	PMID:22721676|REF_RGD_ID:401793723
12061929	LUM	lumican	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061929	LUM	lumican	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620984	D	RGD:9068941	20200609	RGD			PMID:11348051|REF_RGD_ID:1582122
12061939	CAPN1	calpain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061939	CAPN1	calpain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061939	CAPN1	calpain 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased expression:cytosol, plasma membrane	PMID:9469158|REF_RGD_ID:13792664
12061939	CAPN1	calpain 1	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:2267	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
12061939	CAPN1	calpain 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868|PMID:32352326
12061939	CAPN1	calpain 1	gene	DOID:0110821	hereditary spastic paraplegia 76		ISO	RGD:736980	D	RGD:7240710	20190315	OMIM			
12061939	CAPN1	calpain 1	gene	DOID:0110821	hereditary spastic paraplegia 76		ISO	RGD:736980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spastic paraplegia type 76 | ClinVar Annotator: match by term: CAPN1-related condition | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27153400|PMID:27320912|PMID:28492532|PMID:28566166|PMID:29379883|PMID:30198554|PMID:31227335|PMID:31345219|PMID:32214227|PMID:32352326|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:42120987|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased activity:aorta	PMID:23006733|REF_RGD_ID:13792498
12061939	CAPN1	calpain 1	gene	DOID:10534	stomach cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:27153400|PMID:27320912|PMID:28492532|PMID:31345219
12061939	CAPN1	calpain 1	gene	DOID:1059	intellectual disability		ISO	RGD:736980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
12061939	CAPN1	calpain 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736980	D	RGD:9068941	20200609	RGD		protein:increased activity:brain:	PMID:11231011|REF_RGD_ID:13792663
12061939	CAPN1	calpain 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:736980	D	RGD:9068941	20200609	RGD			PMID:8622780|REF_RGD_ID:13792495
12061939	CAPN1	calpain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12061939	CAPN1	calpain 1	gene	DOID:1115	sarcoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12061939	CAPN1	calpain 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2267	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle tissue of tibialis anterior	PMID:24745757|REF_RGD_ID:13792589
12061939	CAPN1	calpain 1	gene	DOID:1210	optic neuritis		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23860028
12061939	CAPN1	calpain 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:1324	lung cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061939	CAPN1	calpain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19266085
12061939	CAPN1	calpain 1	gene	DOID:1826	epilepsy	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD			PMID:25924429|REF_RGD_ID:13792591
12061939	CAPN1	calpain 1	gene	DOID:1909	melanoma		ISO	RGD:736980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12061939	CAPN1	calpain 1	gene	DOID:2247	spondylosis		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical spondylosis	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD		associated with Rhabdomyolysis;	PMID:24158126|REF_RGD_ID:13792553
12061939	CAPN1	calpain 1	gene	DOID:4362	cervical cancer		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061939	CAPN1	calpain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061939	CAPN1	calpain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061939	CAPN1	calpain 1	gene	DOID:607	paraplegia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
12061939	CAPN1	calpain 1	gene	DOID:630	genetic disease		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12061939	CAPN1	calpain 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2267	D	RGD:9068941	20200609	RGD			PMID:23102374|REF_RGD_ID:13792496
12061939	CAPN1	calpain 1	gene	DOID:9000053	Headache		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9001722	Dysarthria		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9002121	Spinocerebellar Ataxias		IAGP		D	RGD:12801476	20250113	OMIA		Ataxia, spinocerebellar, CAPN1-related	PMID:4747697|PMID:2061870|PMID:15320590|PMID:23741357|PMID:22634896|PMID:22872628|PMID:24736825|PMID:24736826|PMID:27320912|PMID:27259058|PMID:27153400|PMID:30650096|PMID:37341581|PMID:37905444|PMID:38003185
12061939	CAPN1	calpain 1	gene	DOID:9003242	Paresthesia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061939	CAPN1	calpain 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9008941	Muscle Hypertonia		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hypermyotonia	PMID:25741868|PMID:28492532|PMID:31982778
12061939	CAPN1	calpain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061939	CAPN1	calpain 1	gene	DOID:913	atrophic muscular disease		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061939	CAPN1	calpain 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus	PMID:17576681|PMID:25741868|PMID:27153400|PMID:28492532|PMID:32214227|PMID:33486633|PMID:34234304|PMID:36530930|PMID:37273706|PMID:9536098
12061965	SIRT6	sirtuin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12061965	SIRT6	sirtuin 6	gene	DOID:0051064	left ventricular failure		ISO	RGD:1313110	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
12061965	SIRT6	sirtuin 6	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12061965	SIRT6	sirtuin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1305216	D	RGD:9068941	20200609	RGD			PMID:21373642|REF_RGD_ID:6484527
12061965	SIRT6	sirtuin 6	gene	DOID:10763	hypertension	exacerbates	ISO	RGD:1313111	D	RGD:9068941	20221006	RGD			PMID:30894089|REF_RGD_ID:155260334
12061965	SIRT6	sirtuin 6	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1313110	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
12061965	SIRT6	sirtuin 6	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1305216	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain	PMID:23899523|REF_RGD_ID:9586062
12061965	SIRT6	sirtuin 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1313110	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:26132555
12061965	SIRT6	sirtuin 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1313110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12061965	SIRT6	sirtuin 6	gene	DOID:3275	thymoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12061965	SIRT6	sirtuin 6	gene	DOID:3911	progeria		ISO	RGD:1313111	D	RGD:9068941	20220825	MouseDO		OMIM:176670	
12061965	SIRT6	sirtuin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12061965	SIRT6	sirtuin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1313110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061965	SIRT6	sirtuin 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313110	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12061965	SIRT6	sirtuin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12061965	SIRT6	sirtuin 6	gene	DOID:9000784	Fibrosis		ISO	RGD:1313110	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:35798905
12061965	SIRT6	sirtuin 6	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1313110	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
12061965	SIRT6	sirtuin 6	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:1313110	D	RGD:9068941	20221006	RGD		protein:decreased expression:kidney	PMID:30894089|REF_RGD_ID:155260334
12061965	SIRT6	sirtuin 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12061965	SIRT6	sirtuin 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1305216	D	RGD:9068941	20200609	RGD			PMID:22335191|REF_RGD_ID:9586060
12061965	SIRT6	sirtuin 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1313110	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:22335191|PMID:35798905
12061965	SIRT6	sirtuin 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313110	D	RGD:8554872	20250128	ClinVar		ClinVar Annotator: match by term: Syndromic complex neurodevelopmental disorder	PMID:25741868
12061965	SIRT6	sirtuin 6	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1313110	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:35798905
12061965	SIRT6	sirtuin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12061965	SIRT6	sirtuin 6	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1313110	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34713381
12061965	SIRT6	sirtuin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12061965	SIRT6	sirtuin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:1313110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28536482
12061965	SIRT6	sirtuin 6	gene	DOID:9970	obesity		ISO	RGD:1305216	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:24135502|REF_RGD_ID:9586064
12061996	NTSR1	neurotensin receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12061996	NTSR1	neurotensin receptor 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1314483	D	RGD:9068941	20250111	RGD		DNA:SNPs,haplotype::rs6011914,rs2427422(human)	PMID:23743782|REF_RGD_ID:596948429
12061996	NTSR1	neurotensin receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
12061996	NTSR1	neurotensin receptor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1314483	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12061996	NTSR1	neurotensin receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12061996	NTSR1	neurotensin receptor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314483	D	RGD:9068941	20200609	RGD			PMID:7700529|REF_RGD_ID:9743906
12061996	NTSR1	neurotensin receptor 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1314483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12061996	NTSR1	neurotensin receptor 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1314483	D	RGD:9068941	20250116	RGD		DNA:SNP:intron:rs3915568(human)	PMID:26384852|REF_RGD_ID:11522680
12061996	NTSR1	neurotensin receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314483	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12061996	NTSR1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659557
12061996	NTSR1	neurotensin receptor 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314483	D	RGD:9068941	20200806	RGD		DNA:repeat:enhancer:	
12061996	NTSR1	neurotensin receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12061996	NTSR1	neurotensin receptor 1	gene	DOID:9000641	Pain		ISO	RGD:1314483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20727387
12061996	NTSR1	neurotensin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1306076	D	RGD:9068941	20200609	RGD			PMID:22396077|REF_RGD_ID:9743902
12062014	WDR76	WD repeat domain 76	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062014	WDR76	WD repeat domain 76	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062014	WDR76	WD repeat domain 76	gene	DOID:1909	melanoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062014	WDR76	WD repeat domain 76	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062014	WDR76	WD repeat domain 76	gene	DOID:3275	thymoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062014	WDR76	WD repeat domain 76	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062014	WDR76	WD repeat domain 76	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605336	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12062014	WDR76	WD repeat domain 76	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12062014	WDR76	WD repeat domain 76	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062014	WDR76	WD repeat domain 76	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352372	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:20967760|REF_RGD_ID:5509622
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1352372	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:15111312|REF_RGD_ID:5509620
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:20570249|REF_RGD_ID:5509595
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:10763	hypertension		ISO	RGD:1352372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22467300
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:1324	lung cancer		ISO	RGD:1352372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:1936	atherosclerosis		ISO	RGD:1352372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16303615
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:1936	atherosclerosis		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:18206890|REF_RGD_ID:5509610
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:2316	brain ischemia		ISO	RGD:70493	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:20167207|REF_RGD_ID:5509598
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:2841	asthma		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:18692885|REF_RGD_ID:5509784
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:2841	asthma		ISO	RGD:733626	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19628725|REF_RGD_ID:5509605
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:2921	glomerulonephritis		ISO	RGD:70493	D	RGD:9068941	20200609	RGD			PMID:7967345|REF_RGD_ID:5128564
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1352372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:6000	congestive heart failure		ISO	RGD:70493	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction; mRNA:increased expression:heart left ventricle, septum	PMID:16497176|REF_RGD_ID:1642301
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:6000	congestive heart failure		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:19546247|REF_RGD_ID:5509627
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:70493	D	RGD:9068941	20231109	RGD			PMID:34958945|REF_RGD_ID:401900155
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:8283	peritonitis		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:18941242|REF_RGD_ID:5509607
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1352372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406566
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1352372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30643255
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1352372	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:20554417|REF_RGD_ID:5509597
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:15708862|REF_RGD_ID:5509615
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:19675173|REF_RGD_ID:5509599
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:15328042|REF_RGD_ID:5509618
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:18635843|REF_RGD_ID:5509608
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:19752233|REF_RGD_ID:5509626
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9005372	Inflammation		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:19787041|REF_RGD_ID:5509625
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9005372	Inflammation		ISO	RGD:733626	D	RGD:9068941	20200609	RGD		associated with Wounds and Injuries	PMID:17384141|REF_RGD_ID:5509613
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:19787041|REF_RGD_ID:5509625
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9743	diabetic neuropathy		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:20724598|REF_RGD_ID:5509623
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733626	D	RGD:9068941	20200609	RGD			PMID:17940120|REF_RGD_ID:5509611
12062036	ALOX15	arachidonate 15-lipoxygenase	gene	DOID:9775	diastolic heart failure		ISO	RGD:1352372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:0060058	lymphoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:10534	stomach cancer		ISO	RGD:1345915	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:1324	lung cancer		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:1909	melanoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable	PMID:25741868|PMID:35101336|PMID:38589703|PMID:40021601
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:3275	thymoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1345915	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062054	ITPKB	inositol-trisphosphate 3-kinase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315207	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:1324	lung cancer		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:1909	melanoma		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062066	DCAF5	DDB1 and CUL4 associated factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:0050840	cervical dystonia		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:12849	autistic disorder		ISO	RGD:732437	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:18821008
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:1826	epilepsy		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:27572814|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:1909	melanoma		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:2377	multiple sclerosis		ISO	RGD:732437	D	RGD:9068941	20200609	RGD		DNA:repeat::(CA)11-16 (human)	PMID:9561979|REF_RGD_ID:1358628
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:3312	bipolar disorder		ISO	RGD:732437	D	RGD:9068941	20200609	RGD			PMID:11840313|REF_RGD_ID:1358391
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:4362	cervical cancer		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:5041	esophageal cancer		ISO	RGD:732437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:630	genetic disease		ISO	RGD:732437	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27572814|PMID:28518168|PMID:29053855|PMID:32461654
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:27572814|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9001581	Constipation		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:27572814|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9003133	Hypertelorism		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:27572814|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9005494	X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features		ISO	RGD:732437	D	RGD:7240710	20221130	OMIM			
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9005494	X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPILEPSY, X-LINKED 2, WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT AND DYSMORPHIC FEATURES | ClinVar Annotator: match by term: Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features | ClinVar Annotator: match by term: GABRA3-related condition	PMID:25741868|PMID:28492532|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:27572814|PMID:29053855
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9006302	Binge Drinking		ISO	RGD:2648	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
12062085	GABRA3	gamma-aminobutyric acid type A receptor subunit alpha3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:10534	stomach cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:1324	lung cancer		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:1909	melanoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604999	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062102	SPATA17	spermatogenesis associated 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:3070	high grade glioma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1606291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062123	TXNDC12	thioredoxin domain containing 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062134	RAB26	RAB26, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062134	RAB26	RAB26, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062134	RAB26	RAB26, member RAS oncogene family	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062157	E2F4	E2F transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:10754	otitis media		ISO	RGD:1323112	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12062157	E2F4	E2F transcription factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062157	E2F4	E2F transcription factor 4	gene	DOID:1909	melanoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:3275	thymoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:3883	Lynch syndrome		ISO	RGD:1323111	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
12062157	E2F4	E2F transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:9000918	Disease Progression		ISO	RGD:1323111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
12062157	E2F4	E2F transcription factor 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12062157	E2F4	E2F transcription factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062171	VSTM1	V-set and transmembrane domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604181	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062171	VSTM1	V-set and transmembrane domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062171	VSTM1	V-set and transmembrane domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062171	VSTM1	V-set and transmembrane domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12062171	VSTM1	V-set and transmembrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062185	CCND2	cyclin D2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062185	CCND2	cyclin D2	gene	DOID:0050453	lissencephaly		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:730903	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783
12062185	CCND2	cyclin D2	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:730904	D	RGD:9068941	20260312	MouseDO			
12062185	CCND2	cyclin D2	gene	DOID:0050912	colon adenoma	severity	ISO	RGD:730903	D	RGD:9068941	20220311	RGD			PMID:11375949|REF_RGD_ID:151665121
12062185	CCND2	cyclin D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062185	CCND2	cyclin D2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter, breast	PMID:14601057|REF_RGD_ID:2289156
12062185	CCND2	cyclin D2	gene	DOID:0060249	scoliosis		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:0060313	tracheomalacia		ISO	RGD:730903	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868|PMID:28492532|PMID:29642246|PMID:31056854|PMID:31441589|PMID:34087052
12062185	CCND2	cyclin D2	gene	DOID:0080918	polymicrogyria		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29642246
12062185	CCND2	cyclin D2	gene	DOID:10283	prostate cancer		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA, mRNA:hyperymethylation, decreased expression:promoter, prostate gland	PMID:17016690|REF_RGD_ID:2289151
12062185	CCND2	cyclin D2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:736624	D	RGD:9068941	20220317	RGD			PMID:16322291|REF_RGD_ID:151665170
12062185	CCND2	cyclin D2	gene	DOID:10534	stomach cancer		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062185	CCND2	cyclin D2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:25960238|REF_RGD_ID:151665106
12062185	CCND2	cyclin D2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:10666388|REF_RGD_ID:151665101
12062185	CCND2	cyclin D2	gene	DOID:1059	intellectual disability		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:10908	hydrocephalus		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:10952	nephritis		ISO	RGD:621083	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex	PMID:15654821|REF_RGD_ID:2289180
12062185	CCND2	cyclin D2	gene	DOID:1148	polydactyly		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:11782	astigmatism		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:1324	lung cancer		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062185	CCND2	cyclin D2	gene	DOID:13620	patent foramen ovale		ISO	RGD:730903	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532|PMID:29642246|PMID:31056854|PMID:31441589|PMID:34087052
12062185	CCND2	cyclin D2	gene	DOID:1459	hypothyroidism		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:1591	renovascular hypertension		ISO	RGD:621083	D	RGD:9068941	20220310	RGD		protein:increased expression:left ventricle:	PMID:26300251|REF_RGD_ID:151664604
12062185	CCND2	cyclin D2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:30308939|REF_RGD_ID:151665105
12062185	CCND2	cyclin D2	gene	DOID:1686	glaucoma		ISO	RGD:621083	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:18055803|REF_RGD_ID:2289160
12062185	CCND2	cyclin D2	gene	DOID:1826	epilepsy		ISO	RGD:730903	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783
12062185	CCND2	cyclin D2	gene	DOID:1875	impotence		ISO	RGD:621083	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:penis	PMID:18068478|REF_RGD_ID:2289159
12062185	CCND2	cyclin D2	gene	DOID:2043	hepatitis B		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		mRNA:decreased expression:Peripheral Blood Mononuclear Cell	PMID:33320844|REF_RGD_ID:151664743
12062185	CCND2	cyclin D2	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD		DNA:SNP, haplotype:exon :rs1049606(human)	PMID:20414251|REF_RGD_ID:151664744
12062185	CCND2	cyclin D2	gene	DOID:2154	nephroblastoma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD			PMID:15797629|REF_RGD_ID:2289153
12062185	CCND2	cyclin D2	gene	DOID:219	colon cancer		ISO	RGD:621083	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:15059925|REF_RGD_ID:2289181
12062185	CCND2	cyclin D2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:621083	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:urinary bladder, urine	PMID:17017434|REF_RGD_ID:2289150
12062185	CCND2	cyclin D2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:urinary bladder, urine	PMID:17017434|REF_RGD_ID:2289150
12062185	CCND2	cyclin D2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:730904	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:urinary bladder, urine	PMID:17017434|REF_RGD_ID:2289150
12062185	CCND2	cyclin D2	gene	DOID:2975	cystic kidney disease		ISO	RGD:730903	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:28492532|PMID:29642246|PMID:31056854|PMID:31441589|PMID:34087052
12062185	CCND2	cyclin D2	gene	DOID:2999	granulosa cell tumor		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:11994539|REF_RGD_ID:2289157
12062185	CCND2	cyclin D2	gene	DOID:3275	thymoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062185	CCND2	cyclin D2	gene	DOID:3304	germinoma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD			PMID:17167184|REF_RGD_ID:2296039
12062185	CCND2	cyclin D2	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter, breast	PMID:14601057|REF_RGD_ID:2289156
12062185	CCND2	cyclin D2	gene	DOID:3571	liver cancer	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:30308939|REF_RGD_ID:151665105
12062185	CCND2	cyclin D2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		DNA:hypermethylation:promoter	PMID:30308939|REF_RGD_ID:151665105
12062185	CCND2	cyclin D2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		mRNA:increased expression:lung	PMID:31253987|REF_RGD_ID:151665100
12062185	CCND2	cyclin D2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		protein:increased expression:lung	PMID:30227870|REF_RGD_ID:151665108
12062185	CCND2	cyclin D2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:30308939|REF_RGD_ID:151665105
12062185	CCND2	cyclin D2	gene	DOID:4440	seminoma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:testis	PMID:15747581|REF_RGD_ID:2289154
12062185	CCND2	cyclin D2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062185	CCND2	cyclin D2	gene	DOID:5041	esophageal cancer		ISO	RGD:730903	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062185	CCND2	cyclin D2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with hepatitis B;mRNA:decreased expression:Peripheral Blood Mononuclear Cell	PMID:33320844|REF_RGD_ID:151664743
12062185	CCND2	cyclin D2	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220324	RGD			PMID:14612939|PMID:9778110|REF_RGD_ID:151665142|REF_RGD_ID:151665349
12062185	CCND2	cyclin D2	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:730903	D	RGD:9068941	20220311	RGD			PMID:14612939|REF_RGD_ID:151665142
12062185	CCND2	cyclin D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062185	CCND2	cyclin D2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062185	CCND2	cyclin D2	gene	DOID:630	genetic disease		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24705253|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		DNA:hypermethylation:CpG site	PMID:31059558|REF_RGD_ID:151665109
12062185	CCND2	cyclin D2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with hepatitis B	PMID:33320844|REF_RGD_ID:151664743
12062185	CCND2	cyclin D2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with hepatitis B	PMID:33320844|REF_RGD_ID:151664743
12062185	CCND2	cyclin D2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:730903	D	RGD:9068941	20220317	RGD		associated with Chronic Hepatitis C;DNA:SNP: :rs1049606(human)	PMID:22004425|REF_RGD_ID:151665169
12062185	CCND2	cyclin D2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with colorectal cancer;protein:increased expression:colorectum	PMID:19508551|REF_RGD_ID:151665111
12062185	CCND2	cyclin D2	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:testis	PMID:11358847|REF_RGD_ID:2296041
12062185	CCND2	cyclin D2	gene	DOID:9000784	Fibrosis		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16306446
12062185	CCND2	cyclin D2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA:hypermethylated:brain	PMID:15131050|REF_RGD_ID:2289155
12062185	CCND2	cyclin D2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17016690
12062185	CCND2	cyclin D2	gene	DOID:9002403	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24705253|PMID:29642246
12062185	CCND2	cyclin D2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17270028
12062185	CCND2	cyclin D2	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17270028|REF_RGD_ID:2296038
12062185	CCND2	cyclin D2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12062185	CCND2	cyclin D2	gene	DOID:9003041	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3		ISO	RGD:730903	D	RGD:7240710	20180130	OMIM			
12062185	CCND2	cyclin D2	gene	DOID:9003041	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3		ISO	RGD:730903	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CCND2-related condition | ClinVar Annotator: match by term: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 | ClinVar Annotator: match by term: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3	PMID:17486076|PMID:24705253|PMID:25741868|PMID:26795593|PMID:28492532|PMID:29642246|PMID:31056854|PMID:31441589|PMID:31957131|PMID:33818783|PMID:34087052|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
12062185	CCND2	cyclin D2	gene	DOID:9003133	Hypertelorism		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12062185	CCND2	cyclin D2	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29642246
12062185	CCND2	cyclin D2	gene	DOID:9003816	Macrocephaly		ISO	RGD:730903	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24705253|PMID:25741868|PMID:28492532|PMID:29642246|PMID:31056854|PMID:31441589|PMID:33818783|PMID:34087052
12062185	CCND2	cyclin D2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15576649
12062185	CCND2	cyclin D2	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:730903	D	RGD:9068941	20200626	RGD		mRNA:increased expression:CD19+Bcell:	PMID:20189883|REF_RGD_ID:32716380
12062185	CCND2	cyclin D2	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:15800920|REF_RGD_ID:2289152
12062185	CCND2	cyclin D2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621083	D	RGD:9068941	20220310	RGD		protein:increased expression:left ventricle:	PMID:26300251|REF_RGD_ID:151664604
12062185	CCND2	cyclin D2	gene	DOID:9004696	Neuromuscular Oculoauditory Syndrome		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease and ocular or auditory anomalies with or without seizures	PMID:25741868
12062185	CCND2	cyclin D2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783
12062185	CCND2	cyclin D2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with colorectal cancer;protein:increased expression:colorectum	PMID:19508551|REF_RGD_ID:151665111
12062185	CCND2	cyclin D2	gene	DOID:9006743	Spasm		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:24705253|PMID:25741868|PMID:28492532|PMID:31056854|PMID:33818783
12062185	CCND2	cyclin D2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12062185	CCND2	cyclin D2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38700464
12062185	CCND2	cyclin D2	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:730903	D	RGD:9068941	20220311	RGD		mRNA:increased expression:stomach:	PMID:12133540|REF_RGD_ID:151665119
12062185	CCND2	cyclin D2	gene	DOID:9008114	Helicobacter Infections	treatment	ISO	RGD:730903	D	RGD:9068941	20220310	RGD		associated with Gastrointestinal Neoplasms or gastritis	PMID:11552926|REF_RGD_ID:151665103
12062185	CCND2	cyclin D2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12062185	CCND2	cyclin D2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast	PMID:11289162|REF_RGD_ID:2289158
12062185	CCND2	cyclin D2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730903	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:breast	PMID:17549626|REF_RGD_ID:2289149
12062185	CCND2	cyclin D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730903	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:27798625
12062185	CCND2	cyclin D2	gene	DOID:9256	colorectal cancer		ISO	RGD:730903	D	RGD:9068941	20220310	RGD		mRNA, protein:increased expression:colorectum	PMID:28933597|PMID:31511084|REF_RGD_ID:151664740|REF_RGD_ID:151664741
12062185	CCND2	cyclin D2	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:730903	D	RGD:9068941	20220310	RGD			PMID:19508551|REF_RGD_ID:151665111
12062185	CCND2	cyclin D2	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:730903	D	RGD:9068941	20220324	RGD			PMID:20473882|REF_RGD_ID:151665334
12062185	CCND2	cyclin D2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730903	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24464100
12062185	CCND2	cyclin D2	gene	DOID:9538	multiple myeloma		ISO	RGD:730903	D	RGD:9068941	20200609	RGD			PMID:15755896|REF_RGD_ID:1581171
12062194	MTDH	metadherin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062194	MTDH	metadherin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062194	MTDH	metadherin	gene	DOID:1324	lung cancer		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062194	MTDH	metadherin	gene	DOID:1909	melanoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062194	MTDH	metadherin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12062194	MTDH	metadherin	gene	DOID:4362	cervical cancer		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062194	MTDH	metadherin	gene	DOID:5041	esophageal cancer		ISO	RGD:735692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062194	MTDH	metadherin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062194	MTDH	metadherin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062194	MTDH	metadherin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062194	MTDH	metadherin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062194	MTDH	metadherin	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:735692	D	RGD:9068941	20210528	RGD		human cells in a mouse model	PMID:26351209|REF_RGD_ID:11096879
12062194	MTDH	metadherin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735692	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19111877
12062194	MTDH	metadherin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735692	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29315995
12062194	MTDH	metadherin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735692	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29315995
12062194	MTDH	metadherin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735692	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19111877
12062194	MTDH	metadherin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062194	MTDH	metadherin	gene	DOID:9256	colorectal cancer		ISO	RGD:735692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12062219	TMEM177	transmembrane protein 177	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062225	IL37	interleukin 37	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1346334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	
12062225	IL37	interleukin 37	gene	DOID:12662	paracoccidioidomycosis	treatment	ISO	RGD:1346334	D	RGD:9068941	20201015	RGD			PMID:28992214|REF_RGD_ID:39938858
12062225	IL37	interleukin 37	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12062225	IL37	interleukin 37	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12062225	IL37	interleukin 37	gene	DOID:9007391	Inflammatory Bowel Disease 31		ISO	RGD:1346334	D	RGD:7240710	20210707	OMIM			
12062225	IL37	interleukin 37	gene	DOID:9007391	Inflammatory Bowel Disease 31		ISO	RGD:1346334	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessive	PMID:25741868
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1605279	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:10534	stomach cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:1115	sarcoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:1324	lung cancer		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:3275	thymoma		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062247	SLC9B1	solute carrier family 9 member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062272	PTTG1IP	PTTG1 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062334	AURKC	aurora kinase C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062334	AURKC	aurora kinase C	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1343852	D	RGD:7240710	20190315	OMIM			
12062334	AURKC	aurora kinase C	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:1343852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infertility associated with multi-tailed spermatozoa and excessive DNA | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 5 | ClinVar Annotator: match by term: spermatogenic failure 5	PMID:19147683|PMID:22888167|PMID:24033266|PMID:25219909|PMID:25741868|PMID:25755131|PMID:26341096|PMID:27106102|PMID:31455599
12062334	AURKC	aurora kinase C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062334	AURKC	aurora kinase C	gene	DOID:12336	male infertility		ISO	RGD:1343852	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435757
12062334	AURKC	aurora kinase C	gene	DOID:3275	thymoma		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062334	AURKC	aurora kinase C	gene	DOID:4362	cervical cancer		ISO	RGD:1343852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062334	AURKC	aurora kinase C	gene	DOID:630	genetic disease		ISO	RGD:1343852	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12062375	CCDC142	coiled-coil domain containing 142	gene	DOID:1909	melanoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062375	CCDC142	coiled-coil domain containing 142	gene	DOID:543	dystonia		ISO	RGD:156438172	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
12062375	CCDC142	coiled-coil domain containing 142	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062375	CCDC142	coiled-coil domain containing 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0051061	stroke		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0051061	stroke		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:15678115|REF_RGD_ID:2316358
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0060573	von Willebrand's disease 1	severity	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		DNA:haplotype:cds:	PMID:15226188|REF_RGD_ID:10766468
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0060574	von Willebrand's disease 2	no_association	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		DNA:haplotype::	PMID:16409463|REF_RGD_ID:10766469
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0060691	platelet-type bleeding disorder 16		ISO	RGD:1349627	D	RGD:7240710	20180130	OMIM			
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0060691	platelet-type bleeding disorder 16		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Platelet-type bleeding disorder 16	PMID:12181054|PMID:1317725|PMID:15099289|PMID:18065693|PMID:19691478|PMID:19805198|PMID:20020534|PMID:20081061|PMID:21113249|PMID:21454453|PMID:21917754|PMID:22102273|PMID:22190468|PMID:24498605|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28492532|PMID:28748566|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33276370|PMID:36519321|PMID:38604226|PMID:9215749|PMID:9473221|PMID:9722314|PMID:9763559|PMID:9834222
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:0060692	platelet-type bleeding disorder 8		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Impaired ADP-induced platelet aggregation	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:1115	sarcoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:1247	blood coagulation disease		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:1324	lung cancer		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:12008952|PMID:12575292|PMID:18065693|PMID:19805198|PMID:20081061|PMID:21454453|PMID:22102273|PMID:25373348|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25944497|PMID:27469266|PMID:28492532|PMID:29090484|PMID:31064749|PMID:31119735|PMID:31691484|PMID:32581362|PMID:33276370|PMID:9215749|PMID:9834222
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:11798398|PMID:19691478|PMID:21113249|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:27696190|PMID:28492532|PMID:29675921|PMID:32237906|PMID:9473221
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:2219	Glanzmann's thrombasthenia		IAGP		D	RGD:12801476	20240724	OMIA		Thrombasthenia	PMID:8128434|PMID:8885176|PMID:9987916|PMID:11105947|PMID:11355654|PMID:11703027|PMID:14662345|PMID:15198264|PMID:6064862|PMID:21606353|PMID:26764135|PMID:4484966|PMID:4428600|PMID:3715800|PMID:33636747|PMID:31991713|PMID:37673175
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:2219	Glanzmann's thrombasthenia		ISO	RGD:1349627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 2 | ClinVar Annotator: match by term: Glanzmann thrombasthenia | ClinVar Annotator: match by term: THROMBASTHENIA OF GLANZMANN AND NAEGELI | ClinVar Annotator: match by term: Thrombasthenia of Glanzmann and Naegeli	PMID:10607701|PMID:11091187|PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:12506038|PMID:1317725|PMID:14687991|PMID:15099289|PMID:15219201|PMID:15717695|PMID:15748238|PMID:15886807|PMID:16199547|PMID:16463284|PMID:16722529|PMID:17488698|PMID:17576681|PMID:18065693|PMID:18422845|PMID:18788610|PMID:18791937|PMID:18976939|PMID:19170775|PMID:19172520|PMID:19175981|PMID:19691478|PMID:19734576|PMID:19805198|PMID:19821948|PMID:20020534|PMID:20081061|PMID:2014236|PMID:20492470|PMID:20819594|PMID:21029361|PMID:21113249|PMID:21454453|PMID:21557682|PMID:21917754|PMID:22102273|PMID:22190468|PMID:22250950|PMID:22738334|PMID:23305224|PMID:24418945|PMID:25275492|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25749862|PMID:25827233|PMID:25944497|PMID:26096001|PMID:27469266|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28808266|PMID:28888044|PMID:28983057|PMID:29090484|PMID:29385657|PMID:29483666|PMID:29675921|PMID:30138987|PMID:30792900|PMID:31064749|PMID:31119735|PMID:32089034|PMID:32139434|PMID:32237906|PMID:32581362|PMID:32757236|PMID:33276370|PMID:33496739|PMID:33928629|PMID:34267460|PMID:34275420|PMID:34355501|PMID:36519321|PMID:36964972|PMID:37647632|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9763559|PMID:9834222|PMID:9920835
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1349627	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1605806
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:5041	esophageal cancer		ISO	RGD:1349627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1349627	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:630	genetic disease		ISO	RGD:1349627	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9000363	Hematuria		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroscopic hematuria	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9002319	Glanzmann Thrombasthenia 1		ISO	RGD:1349627	D	RGD:7240710	20220427	OMIM			
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9002319	Glanzmann Thrombasthenia 1		ISO	RGD:1349627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLANZMANN THROMBASTHENIA 1 | ClinVar Annotator: match by term: Glanzmann thrombasthenia 1	PMID:11798398|PMID:12083483|PMID:12181054|PMID:12424194|PMID:12487785|PMID:1317725|PMID:15099289|PMID:16199547|PMID:16359514|PMID:17488698|PMID:17576681|PMID:18422845|PMID:19691478|PMID:20020534|PMID:21113249|PMID:21454453|PMID:21557682|PMID:21917754|PMID:22190468|PMID:22738334|PMID:24418945|PMID:24498605|PMID:25373348|PMID:25539746|PMID:25728920|PMID:25741868|PMID:25827233|PMID:27607598|PMID:27696190|PMID:28232155|PMID:28492532|PMID:28748566|PMID:28983057|PMID:29675921|PMID:30138987|PMID:31064749|PMID:32237906|PMID:33496739|PMID:34355501|PMID:36519321|PMID:7508443|PMID:7706461|PMID:8282784|PMID:8704171|PMID:8883261|PMID:9215749|PMID:9473221|PMID:9536098|PMID:9722314|PMID:9763559|PMID:9920835
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1349627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9445356
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9003340	Neonatal Alloimmune Thrombocytopenia		ISO	RGD:1349627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BAK PLATELET-SPECIFIC ANTIGEN	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9003417	Menorrhagia		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:11705748|REF_RGD_ID:2316361
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9005876	Thrombocytopenic Purpura		ISO	RGD:1557725	D	RGD:9068941	20200609	RGD			PMID:11493456|REF_RGD_ID:2316362
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9005930	Endotoxemia		ISO	RGD:1596428	D	RGD:9068941	20200609	RGD			PMID:15280099|REF_RGD_ID:2316360
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9008217	Hemorrhage		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:10607701|PMID:12083483|PMID:25741868
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9008421	Epistaxis		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:19691478|PMID:21113249|PMID:25741868|PMID:27607598|PMID:27696190|PMID:9473221
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:11798398|PMID:19691478|PMID:21557682|PMID:24418945|PMID:25728920|PMID:25741868|PMID:27607598|PMID:28492532|PMID:29675921|PMID:32237906
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9009372	Fetomaternal alloimmune thrombocytopenia 2		ISO	RGD:1349627	D	RGD:7240710	20250820	OMIM			
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9009372	Fetomaternal alloimmune thrombocytopenia 2		ISO	RGD:1349627	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetomaternal alloimmune thrombocytopenia 2	
12062401	ITGA2B	integrin subunit alpha 2b	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:1059	intellectual disability		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33980485
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:10907	microcephaly		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33980485
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:3070	high grade glioma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318831	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:630	genetic disease		ISO	RGD:1318831	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9003507	Premature Birth		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318831	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33980485
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9007573	Flatfoot		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33980485
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318831	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9008421	Epistaxis		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:33980485
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062436	SMARCA5	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1318831	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062464	ARHGEF3	Rho guanine nucleotide exchange factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:0070140	autosomal recessive cutis laxa type IIC		ISO	RGD:1347206	D	RGD:7240710	20190315	OMIM			
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:0070140	autosomal recessive cutis laxa type IIC		ISO	RGD:1347206	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ATP6V1E1-related condition | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC	PMID:25741868|PMID:27023906|PMID:28065471|PMID:28492532
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:1115	sarcoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:4362	cervical cancer		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062493	ATP6V1E1	ATPase H+ transporting V1 subunit E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062506	MPI	mannose phosphate isomerase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12062506	MPI	mannose phosphate isomerase	gene	DOID:0080554	congenital disorder of glycosylation Ib		ISO	RGD:1349436	D	RGD:7240710	20180130	OMIM			
12062506	MPI	mannose phosphate isomerase	gene	DOID:0080554	congenital disorder of glycosylation Ib		ISO	RGD:1349436	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1b | ClinVar Annotator: match by term: MPI-related condition | ClinVar Annotator: match by term: Mannosephosphate isomerase deficiency	PMID:10484808|PMID:10980531|PMID:11134235|PMID:11350186|PMID:12414827|PMID:16199547|PMID:18928705|PMID:19862844|PMID:21811164|PMID:24421398|PMID:24474243|PMID:24508628|PMID:25741868|PMID:26206375|PMID:28139241|PMID:28492532|PMID:28928705|PMID:30545931|PMID:30653653|PMID:32905087|PMID:33098580|PMID:33204592|PMID:33413482|PMID:33643843|PMID:36786328|PMID:37124179|PMID:38959600|PMID:9525984|PMID:9585601
12062506	MPI	mannose phosphate isomerase	gene	DOID:10534	stomach cancer		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062506	MPI	mannose phosphate isomerase	gene	DOID:12849	autistic disorder		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:1909	melanoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062506	MPI	mannose phosphate isomerase	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1349436	D	RGD:9068941	20200609	RGD		CDG Ib, OMIM:602579, DNA:point mutation:exon:R219Q , insertion:exon:116insC	PMID:9525984|REF_RGD_ID:1600452
12062506	MPI	mannose phosphate isomerase	gene	DOID:3275	thymoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062506	MPI	mannose phosphate isomerase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062506	MPI	mannose phosphate isomerase	gene	DOID:630	genetic disease		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062506	MPI	mannose phosphate isomerase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9000727	Syncope		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12062506	MPI	mannose phosphate isomerase	gene	DOID:9001733	Tinnitus		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9005077	Joint Instability		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9007736	Vertigo		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12062506	MPI	mannose phosphate isomerase	gene	DOID:9008385	Vomiting		ISO	RGD:1349436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:3275	thymoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:733378	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9001926	Dilated Cardiomyopathy 2I		ISO	RGD:733378	D	RGD:7240710	20230809	OMIM			
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9001926	Dilated Cardiomyopathy 2I		ISO	RGD:733378	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 2I | ClinVar Annotator: match by term: Cardiomyopathy, dilated, 2I	PMID:25741868|PMID:33083013
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12062533	CAP2	cyclase associated actin cytoskeleton regulatory protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062550	KLF7	KLF transcription factor 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1314410	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: therapeutic	PMID:38184286
12062550	KLF7	KLF transcription factor 7	gene	DOID:1059	intellectual disability		ISO	RGD:1314410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725|PMID:33875846|PMID:36835410
12062550	KLF7	KLF transcription factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062550	KLF7	KLF transcription factor 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1314410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725
12062550	KLF7	KLF transcription factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062550	KLF7	KLF transcription factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062550	KLF7	KLF transcription factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062550	KLF7	KLF transcription factor 7	gene	DOID:630	genetic disease		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725|PMID:35982159
12062550	KLF7	KLF transcription factor 7	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1314410	D	RGD:9068941	20240307	CTD		CTD Direct Evidence: therapeutic	PMID:37734194
12062550	KLF7	KLF transcription factor 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:17434132|PMID:18094723|PMID:25741868|PMID:28492532|PMID:29251763|PMID:30838725
12062550	KLF7	KLF transcription factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062550	KLF7	KLF transcription factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:0050753	cerebellar ataxia		IAGP		D	RGD:12801476	20250903	OMIA		Ataxia, cerebellar, juvenile to adolescent, RAB24-related	PMID:7440348|PMID:7341602|PMID:11043686|PMID:24516392|PMID:6502189|PMID:3973637|PMID:37341581|PMID:38003185|PMID:40869982
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1344346	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs1128287) C>A (human)	PMID:27354594|REF_RGD_ID:152177496
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:9003566	Mesothelioma		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12062566	RAB24	RAB24, member RAS oncogene family	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062586	EMC8	ER membrane protein complex subunit 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:7240710	20180130	OMIM			
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:0080504	Parkinson's disease 22		ISO	RGD:1320361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHCHD2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 22, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 22, autosomal dominant	PMID:25662902|PMID:25741868|PMID:26067110|PMID:26561290|PMID:27269965|PMID:28432706|PMID:28492532|PMID:28589937|PMID:30496485|PMID:30530185|PMID:31600778|PMID:32068847|PMID:35173147|PMID:35402650
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1320361	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062598	CHCHD2	coiled-coil-helix-coiled-coil-helix domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062606	FLYWCH2	FLYWCH family member 2	gene	DOID:3275	thymoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062606	FLYWCH2	FLYWCH family member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062606	FLYWCH2	FLYWCH family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062606	FLYWCH2	FLYWCH family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:3070	high grade glioma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1342982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:5723	optic atrophy		ISO	RGD:1342982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9009300	NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION		ISO	RGD:1342982	D	RGD:7240710	20250226	OMIM			
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9009300	NEURODEVELOPMENTAL DISORDER WITH SPEECH OR VISUAL IMPAIRMENT AND BRAIN HYPOMYELINATION		ISO	RGD:1342982	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination	PMID:25741868
12062613	CCT3	chaperonin containing TCP1 subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:1115	sarcoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:3275	thymoma		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062634	LOC481650	protein NipSnap homolog 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:1115	sarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:1324	lung cancer		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:1909	melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:3275	thymoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1317569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062644	ANKRD6	ankyrin repeat domain 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:1115	sarcoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:1324	lung cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:1909	melanoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:2394	ovarian cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:3275	thymoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1352780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062684	OTUD7B	OTU deubiquitinase 7B	gene	DOID:9001981	Weight Loss		ISO	RGD:1352780	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: therapeutic	PMID:36639017
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:734034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11951178
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:10126	keratoconus		ISO	RGD:734034	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:corneal epithelium:	PMID:23489213|REF_RGD_ID:8655632
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:10584	retinitis pigmentosa	disease_progression	ISO	RGD:2370	D	RGD:9068941	20210709	RGD		associated with lens injury	PMID:24558606|REF_RGD_ID:40818112
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:2370	D	RGD:9068941	20200609	RGD			PMID:12040055|REF_RGD_ID:628474
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:734034	D	RGD:9068941	20200609	RGD		human gene in a cynomolgus monkey model	PMID:9121555|REF_RGD_ID:734795
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:150	disease of mental health		ISO	RGD:734034	D	RGD:9068941	20200820	RGD			PMID:8834105|REF_RGD_ID:1358522
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:1686	glaucoma		ISO	RGD:734034	D	RGD:9068941	20200609	RGD			PMID:19060281|REF_RGD_ID:8655853
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:1686	glaucoma	ameliorates	ISO	RGD:2370	D	RGD:9068941	20230415	RGD			PMID:14725620|REF_RGD_ID:1626115
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:2377	multiple sclerosis	onset	ISO	RGD:734034	D	RGD:9068941	20200609	RGD		DNA:point mutation:intron:G-to-A transition at -6 from the start of exon 2, leads to aberrant splicing, frameshift and a truncated protein	PMID:11890844|REF_RGD_ID:1626112
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:737002	D	RGD:9068941	20200609	RGD			PMID:11951178|REF_RGD_ID:734796
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:4195	hyperglycemia		ISO	RGD:2370	D	RGD:9068941	20200609	RGD		protein:decreased expression:sciatic nerve:resulting from galactose feeding or streptozotocin-induced diabetes	PMID:1571789|REF_RGD_ID:1626119
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:2370	D	RGD:9068941	20200609	RGD			PMID:8125754|REF_RGD_ID:8655591
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:734034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11701153
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:734034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15372491
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:9970	obesity		ISO	RGD:734034	D	RGD:9068941	20200609	RGD		DNA:point mutation:intron:G>A	PMID:12404108|REF_RGD_ID:1626113
12062711	CNTF	ciliary neurotrophic factor	gene	DOID:9970	obesity	no_association	ISO	RGD:734034	D	RGD:9068941	20200609	RGD		DNA:point mutation:intron:G>A	PMID:14747836|REF_RGD_ID:1626114
12062734	RNF123	ring finger protein 123	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:10534	stomach cancer		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062734	RNF123	ring finger protein 123	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062734	RNF123	ring finger protein 123	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1350672	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
12062734	RNF123	ring finger protein 123	gene	DOID:1324	lung cancer		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062734	RNF123	ring finger protein 123	gene	DOID:1909	melanoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062734	RNF123	ring finger protein 123	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:4362	cervical cancer		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062734	RNF123	ring finger protein 123	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12062734	RNF123	ring finger protein 123	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062734	RNF123	ring finger protein 123	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12062734	RNF123	ring finger protein 123	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12062734	RNF123	ring finger protein 123	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062734	RNF123	ring finger protein 123	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:1909	melanoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062784	TRIM21	tripartite motif containing 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062795	CYP8B1	cytochrome P450 family 8 subfamily B member 1	gene	DOID:13580	cholestasis		ISO	RGD:736649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449
12062795	CYP8B1	cytochrome P450 family 8 subfamily B member 1	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:71016	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:29360226|REF_RGD_ID:14995480
12062795	CYP8B1	cytochrome P450 family 8 subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736649	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25448281
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:1115	sarcoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:9003295	Heterotopic Ossification		ISO	RGD:1305652	D	RGD:9068941	20210416	RGD		compared to Wistar	PMID:27370800|REF_RGD_ID:40924660
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062800	LOC487079	homeobox protein Mohawk	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:28492532
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347811	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:0050961	spinocerebellar ataxia 11		ISO	RGD:1347811	D	RGD:7240710	20180130	OMIM			
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:0050961	spinocerebellar ataxia 11		ISO	RGD:1347811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 11 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 11 | ClinVar Annotator: match by term: TTBK2-related condition	PMID:18037885|PMID:19533200|PMID:20301723|PMID:20667868|PMID:22073189|PMID:24808823|PMID:25741868|PMID:26467025|PMID:27573710|PMID:27744525|PMID:28492532|PMID:41422144
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1347811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18037885
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062823	TTBK2	tau tubulin kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:0080600	COVID-19		ISO	RGD:1604774	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:10534	stomach cancer		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:1115	sarcoma		ISO	RGD:1604774	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:1324	lung cancer		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062865	PLEKHN1	pleckstrin homology domain containing N1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062887	KRT23	keratin 23	gene	DOID:1115	sarcoma		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062887	KRT23	keratin 23	gene	DOID:1324	lung cancer		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12062887	KRT23	keratin 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12062887	KRT23	keratin 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062887	KRT23	keratin 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12062887	KRT23	keratin 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:31443223
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0050144	Kartagener syndrome	susceptibility	ISO	RGD:1348406	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:11788826|REF_RGD_ID:1601080
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Situs ambiguus	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348406	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30290127
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1348406	D	RGD:7240710	20180130	OMIM			
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 3 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3 | ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 | ClinVar Annotator: match by term: primary ciliary dyskinesia 3	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16627867|PMID:17576681|PMID:18492703|PMID:19357118|PMID:22416021|PMID:23477994|PMID:23891469|PMID:24033266|PMID:25118008|PMID:25186273|PMID:25741868|PMID:26228299|PMID:27618201|PMID:27637300|PMID:27956632|PMID:28492532|PMID:29089047|PMID:29363216|PMID:29402277|PMID:30067075|PMID:30293640|PMID:30300419|PMID:31118369|PMID:31638833|PMID:31772028|PMID:31879361|PMID:32367404|PMID:32502479|PMID:32859249|PMID:32996775|PMID:33589394|PMID:34391405|PMID:36864285|PMID:37260176|PMID:37540677|PMID:37957793|PMID:40183288|PMID:40584616|PMID:9536098
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:11788826|PMID:16627867|PMID:24498942|PMID:25741868|PMID:28492532|PMID:31765523|PMID:34556108|PMID:36079093|PMID:36980814|PMID:40785399
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:10754	otitis media		ISO	RGD:1558622	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:1115	sarcoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:1324	lung cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:1909	melanoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:2841	asthma		ISO	RGD:1348406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21912604
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:4362	cervical cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:4481	allergic rhinitis		ISO	RGD:1348406	D	RGD:9068941	20260319	RGD		DNA:SNP: :rs6554809	PMID:32082391|REF_RGD_ID:640476621
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:552	pneumonia		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:630	genetic disease		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11788826|PMID:16627867|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1558622	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve stenosis	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laterality sequence | ClinVar Annotator: match by term: Situs inversus	PMID:11062149|PMID:11788826|PMID:15750039|PMID:16627867|PMID:19357118|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30067075|PMID:30290127|PMID:31772028|PMID:32502479|PMID:33589394|PMID:40183288
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9000590	Dyspnea		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:25741868
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348406	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17534128|PMID:17576681|PMID:18492703|PMID:18950741|PMID:19357118|PMID:19630565|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:2506606|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:26918822|PMID:26938784|PMID:27428751|PMID:27618201|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27988889|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:29453417|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293990|PMID:30300419|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:32111882|PMID:32357925|PMID:32367404|PMID:32502479|PMID:32502767|PMID:33574797|PMID:33577779|PMID:33589394|PMID:33635012|PMID:33715250|PMID:9536098
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1348406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Wheezing	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:30067075
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9004372	Pulmonary Atelectasis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atelectasis	PMID:25741868
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	PMID:11788826|PMID:16627867|PMID:19357118|PMID:25186273|PMID:26228299|PMID:28492532|PMID:30290127
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1348406	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11062149|PMID:11788826|PMID:11912187|PMID:15750039|PMID:16199547|PMID:16492982|PMID:16627867|PMID:17059358|PMID:17534128|PMID:17576681|PMID:19357118|PMID:19763152|PMID:20301301|PMID:20307669|PMID:2127064|PMID:21270641|PMID:22406018|PMID:22416021|PMID:22499950|PMID:23261302|PMID:23477994|PMID:2389146|PMID:23891469|PMID:24033266|PMID:24150548|PMID:24448499|PMID:24498942|PMID:24905662|PMID:25066065|PMID:25118008|PMID:25186273|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25802884|PMID:26139845|PMID:26228299|PMID:26373788|PMID:27637300|PMID:27637763|PMID:27779714|PMID:27956632|PMID:27988889|PMID:28478721|PMID:28492532|PMID:28939216|PMID:28976722|PMID:29089047|PMID:29363216|PMID:29402277|PMID:30067075|PMID:30148830|PMID:30290127|PMID:30293640|PMID:30293987|PMID:30293990|PMID:30300419|PMID:30850195|PMID:30919572|PMID:31118369|PMID:31213628|PMID:31443223|PMID:31469207|PMID:31589614|PMID:31624253|PMID:31638833|PMID:31765523|PMID:31772028|PMID:31879361|PMID:31960620|PMID:32111882|PMID:32253119|PMID:32357925|PMID:32367404|PMID:32470793|PMID:32502479|PMID:32502767|PMID:32522973|PMID:32847546|PMID:32859249|PMID:32996775|PMID:33479112|PMID:33561200|PMID:33577779|PMID:33589394|PMID:33715250|PMID:33760720|PMID:33935161|PMID:33974255|PMID:34134972|PMID:34210339|PMID:34391405|PMID:34556108|PMID:34768622|PMID:34930662|PMID:34940998|PMID:35728977|PMID:35753512|PMID:35886035|PMID:36647814|PMID:36864285|PMID:36980814|PMID:37215141|PMID:37260176|PMID:37540677|PMID:37644014|PMID:37860582|PMID:37957793|PMID:37998386|PMID:38041506|PMID:38206729|PMID:38562900|PMID:39009665|PMID:39045318|PMID:39181709|PMID:39695270|PMID:39875822|PMID:40033371|PMID:40183288|PMID:40694277|PMID:40758541|PMID:9536098
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9563	bronchiectasis		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:22416021|PMID:25741868|PMID:26228299|PMID:28492532
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9565	dextrocardia		ISO	RGD:1348406	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:11062149|PMID:11788826|PMID:15750039|PMID:16627867|PMID:25186273|PMID:25741868|PMID:26228299|PMID:28492532|PMID:30067075|PMID:31772028|PMID:32502479|PMID:33589394|PMID:40183288
12062902	DNAH5	dynein axonemal heavy chain 5	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1348406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:11788826|PMID:16627867|PMID:25741868|PMID:28492532|PMID:40183288
12062987	MAL2	mal, T cell differentiation protein 2	gene	DOID:3275	thymoma		ISO	RGD:1348409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12062994	RAD21L1	RAD21 cohesin complex component like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12062994	RAD21L1	RAD21 cohesin complex component like 1	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1348792	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
12063018	RMI2	RecQ mediated genome instability 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063033	UBE2U	ubiquitin conjugating enzyme E2 U	gene	DOID:10534	stomach cancer		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063033	UBE2U	ubiquitin conjugating enzyme E2 U	gene	DOID:1324	lung cancer		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063033	UBE2U	ubiquitin conjugating enzyme E2 U	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063033	UBE2U	ubiquitin conjugating enzyme E2 U	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0060058	lymphoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:7240710	20190315	OMIM			
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0080273	polycystic kidney disease 5		ISO	RGD:1344571	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: DZIP1L-related condition | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 5 | ClinVar Annotator: match by term: Polycystic kidney disease 5	PMID:25741868|PMID:28492532|PMID:28530676
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1344571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530676
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1549981	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1344571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:630	genetic disease		ISO	RGD:1344571	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063050	DZIP1L	DAZ interacting zinc finger protein 1 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1344571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:12858	Huntington's disease		ISO	RGD:731328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21652713
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063103	IP6K2	inositol hexakisphosphate kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:0050453	lissencephaly		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Posterior Predominant Lissencephaly	PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:0050562	West syndrome		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532|PMID:32097629|PMID:32097630
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:0112229	lissencephaly 10		ISO	RGD:1346539	D	RGD:7240710	20200527	OMIM			
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:0112229	lissencephaly 10		ISO	RGD:1346539	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEP85L-related condition | ClinVar Annotator: match by term: LISSENCEPHALY 10 | ClinVar Annotator: match by term: Lissencephaly 10 | ClinVar Annotator: match by term: lissencephaly 10	PMID:25741868|PMID:28492532|PMID:29706646|PMID:32097629|PMID:32097630
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:10534	stomach cancer		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:1059	intellectual disability		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:32097629|PMID:32097630
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:1115	sarcoma		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1346539	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:12610310|PMID:12639993|PMID:16235537|PMID:16897780|PMID:17655857|PMID:18056057|PMID:19139388|PMID:21167350|PMID:21282613|PMID:21332051|PMID:22137083|PMID:22427649|PMID:22707725|PMID:23308118|PMID:23861362|PMID:24033266|PMID:25351510|PMID:25593317|PMID:25611685|PMID:25691538|PMID:25741868|PMID:25852082|PMID:25928149|PMID:26535225|PMID:26917049|PMID:27532257|PMID:28492532|PMID:28600387|PMID:30012515|PMID:30012837|PMID:30847666
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:1826	epilepsy		ISO	RGD:1346539	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:4362	cervical cancer		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1346539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:630	genetic disease		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063132	CEP85L	centrosomal protein 85 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1317172	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:3070	high grade glioma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317172	D	RGD:9068941	20200609	RGD		associated with alcoholism; protein:increased expression:liver	PMID:23292002|REF_RGD_ID:15090802
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1317172	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:22390936|REF_RGD_ID:15090800
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1317172	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:27314282|REF_RGD_ID:15090801
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1317172	D	RGD:9068941	20200609	RGD			PMID:23292002|REF_RGD_ID:15090802
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12063151	CDKN3	cyclin dependent kinase inhibitor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:10534	stomach cancer		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:1324	lung cancer		ISO	RGD:1353661	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:1909	melanoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1353661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063210	PCLAF	PCNA clamp associated factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:0080600	COVID-19		ISO	RGD:1353516	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353516	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063241	TSHZ2	teashirt zinc finger homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:3275	thymoma		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352917	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352917	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12063278	MCF2L2	MCF.2 cell line derived transforming sequence-like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:1115	sarcoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:1324	lung cancer		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:1909	melanoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:5041	esophageal cancer		ISO	RGD:1345290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063313	TTC39C	tetratricopeptide repeat domain 39C	gene	DOID:9256	colorectal cancer		ISO	RGD:1345290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12063330	TMCC2	transmembrane and coiled-coil domain family 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12063330	TMCC2	transmembrane and coiled-coil domain family 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063330	TMCC2	transmembrane and coiled-coil domain family 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063330	TMCC2	transmembrane and coiled-coil domain family 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063347	TBX4	T-box transcription factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063347	TBX4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:7240710	20180130	OMIM			
12063347	TBX4	T-box transcription factor 4	gene	DOID:0111382	ischiocoxopodopatellar syndrome		ISO	RGD:1319185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Coxopodopatellar syndrome | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME | ClinVar Annotator: match by term: ISCHIOCOXOPODOPATELLAR SYNDROME WITH OR WITHOUT PULMONARY ARTERIAL HYPERTENSION | ClinVar Annotator: match by term: Small patella syndrome | ClinVar Annotator: match by term: TBX4-related condition	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32079640|PMID:32348326|PMID:33971972|PMID:34557690|PMID:35852389|PMID:36085161|PMID:36367783|PMID:36990084|PMID:37422716|PMID:9536098
12063347	TBX4	T-box transcription factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063347	TBX4	T-box transcription factor 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12063347	TBX4	T-box transcription factor 4	gene	DOID:381	arthropathy	susceptibility	ISO	RGD:1319185	D	RGD:9068941	20200609	RGD		Small Patella Syndrome, OMIM:147891;DNA:missense mutation, nonsense mutation:exon, exon:p.G248V, p.Q62X	PMID:15106123|REF_RGD_ID:1601422
12063347	TBX4	T-box transcription factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12063347	TBX4	T-box transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31151956|PMID:32348326|PMID:36990084
12063347	TBX4	T-box transcription factor 4	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary pulmonary hypoplasia | ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
12063347	TBX4	T-box transcription factor 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1319185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:15106123|PMID:17576681|PMID:23592887|PMID:25741868|PMID:28492532|PMID:29120062|PMID:29631995|PMID:29650961|PMID:30029678|PMID:30578397|PMID:31151956|PMID:31727138|PMID:32006592|PMID:32348326|PMID:32581362|PMID:32860008|PMID:33066286|PMID:33971972|PMID:34557690|PMID:36367783|PMID:37422716|PMID:9536098
12063347	TBX4	T-box transcription factor 4	gene	DOID:9004999	APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aplasia/hypoplasia involving bones of the lower limbs	PMID:25741868
12063347	TBX4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:7240710	20200226	OMIM			
12063347	TBX4	T-box transcription factor 4	gene	DOID:9005155	Amelia, Autosomal Recessive		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELIA, POSTERIOR, WITH PELVIC AND PULMONARY HYPOPLASIA SYNDROME | ClinVar Annotator: match by term: Autosomal recessive amelia	PMID:25741868|PMID:31761294
12063347	TBX4	T-box transcription factor 4	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:1319185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:15106123|PMID:17576681|PMID:25741868|PMID:27587546|PMID:28492532|PMID:29631995|PMID:30578397|PMID:31151956|PMID:31727138|PMID:31761294|PMID:31965066|PMID:32079640|PMID:32348326|PMID:33066286|PMID:33971972|PMID:34557690|PMID:9536098
12063347	TBX4	T-box transcription factor 4	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1319185	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1620890	D	RGD:9068941	20231207	RGD		protein,mRNA:increased expression:small intestine (mouse)	PMID:12615699|REF_RGD_ID:8657097
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1620890	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33171190
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21325069
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle, liver	PMID:19323616|REF_RGD_ID:4890033
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :3435C>T (human)	PMID:16107775|REF_RGD_ID:2312343
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:730823	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0060750	familial temporal lobe epilepsy 3		ISO	RGD:730823	D	RGD:9068941	20260521	RGD		mRNA, protein:increased expression:hippocampus, temporal lobe (human)	PMID:24590840|REF_RGD_ID:11041150
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22112382|REF_RGD_ID:11040992
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0080600	COVID-19		ISO	RGD:730823	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	severity	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		Nasal Type;protein:increased expression:nasal cavity (human)	PMID:18756548|REF_RGD_ID:8657087
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0110893	inflammatory bowel disease 13		ISO	RGD:730823	D	RGD:7240710	20180130	OMIM			
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:0110893	inflammatory bowel disease 13		ISO	RGD:730823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCB1-related condition | ClinVar Annotator: match by term: Inflammatory bowel disease 13	PMID:14610718|PMID:16434479|PMID:22033938|PMID:25741868|PMID:28492532|PMID:9820555
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1620890	D	RGD:9068941	20200609	RGD			PMID:25991605|REF_RGD_ID:13801010
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:10939	antisocial personality disorder	susceptibility	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		DNA:SNP::rs4728702 (human)	PMID:25918995|REF_RGD_ID:401901197
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:114	heart disease		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24502637
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1168	familial hyperlipidemia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNP::2677G>T/A(rs2032582)(human)	PMID:26922556|REF_RGD_ID:11574565
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1620890	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:17437408
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1227	neutropenia		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16950614|PMID:25007187
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:12365	malaria		ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:hypermethylation:promoter	PMID:19331170|REF_RGD_ID:39457680
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:12365	malaria	susceptibility	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:SNPs,haplotype: :rs2032582, rs1128503 (human)	PMID:28422980|REF_RGD_ID:39457679
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:12365	malaria	treatment	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:SNP: :c3435C>T(human)	PMID:28934955|REF_RGD_ID:39456120
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:12365	malaria	treatment	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:haplotype: :1236C>T, 2677G>T,3435C>T (human)	PMID:17015054|REF_RGD_ID:39456123
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1324	lung cancer		ISO	RGD:730823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:13241	Behcet's disease		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:missense mutations, haplotypes:exons:p.S893A/T, p.G412G, p.I1145I (human)	PMID:22705826|REF_RGD_ID:8657073
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:13250	diarrhea		ISO	RGD:1620890	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32387182
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457621
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20558393
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22269388
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:150	disease of mental health		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17015054
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1612	breast cancer		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1682	congenital heart disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23874772
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1824	status epilepticus		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706787
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1826	epilepsy		ISO	RGD:730823	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:19570321|PMID:8001500
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1826	epilepsy		ISO	RGD:730823	D	RGD:9068941	20260813	RGD		DNA:SNP: :3435C>T (human)	PMID:12686700|REF_RGD_ID:1358366
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1826	epilepsy	treatment	ISO	RGD:619951	D	RGD:9068941	20200609	RGD			PMID:28303499|REF_RGD_ID:13524859
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1849	cannabis dependence	susceptibility	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		DNA:SNP: :3435C>T (rs1045642) (human)	PMID:19625010|REF_RGD_ID:401901192
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:1909	melanoma		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:11888090|REF_RGD_ID:2315560
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:19603017|REF_RGD_ID:2315556
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2559	opiate dependence		ISO	RGD:730823	D	RGD:9068941	20231012	RGD		DNA:SNP: :3435C>T (rs1045642) (human)	PMID:24950410|REF_RGD_ID:401827941
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2559	opiate dependence	severity	ISO	RGD:730823	D	RGD:9068941	20240125	RGD		DNA:SNP:: (rs9282564)	PMID:27061230|REF_RGD_ID:401959589
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		DNA:SNPs::rs1045642, rs2032582(human)	PMID:24086514|REF_RGD_ID:401901242
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		DNA:haplotype::	PMID:17178268|REF_RGD_ID:401901190
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2841	asthma		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, lymphocyte	PMID:19484671|REF_RGD_ID:4890020
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2917	cryoglobulinemia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with hepatitis C;DNA:SNP: :3435C>T(human)	PMID:28453396|REF_RGD_ID:14700902
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:730823	D	RGD:9068941	20201002	RGD		DNA:SNP: :2677G>A (human)	PMID:26067842|REF_RGD_ID:11098541
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2987	familial Mediterranean fever	no_association	ISO	RGD:730823	D	RGD:9068941	20201002	RGD			PMID:23408444|REF_RGD_ID:39456097
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2987	familial Mediterranean fever	susceptibility	ISO	RGD:730823	D	RGD:9068941	20201002	RGD		DNA:SNP,haplotype:exon:3435C>T(human)	PMID:24773260|REF_RGD_ID:39456095
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:2987	familial Mediterranean fever	treatment	ISO	RGD:730823	D	RGD:9068941	20201002	RGD		DNA:SNP: :3435C>T(human)	PMID:17610314|REF_RGD_ID:39456094
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:19879256|REF_RGD_ID:2315549
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:305	carcinoma		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21332314
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3070	high grade glioma		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus (rat)	PMID:15380564|REF_RGD_ID:1358367
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3602	toxic encephalopathy		IAGP		D	RGD:12801476	20260723	OMIA		Multidrug resistance 1, ABCB1-related	PMID:15932411|PMID:14627096|PMID:15289602|PMID:14765742|PMID:15975717|PMID:16594604|PMID:16343287|PMID:16327220|PMID:15305851|PMID:12774979|PMID:12559367|PMID:11939306|PMID:11692082|PMID:18605373|PMID:18557525|PMID:17877579|PMID:17803743|PMID:17644437|PMID:17199425|PMID:18922637|PMID:20655253|PMID:19733104|PMID:19171022|PMID:19152588|PMID:20391637|PMID:20043790|PMID:21488961|PMID:21113104|PMID:18795852|PMID:22329447|PMID:22362942|PMID:22735986|PMID:22039792|PMID:2345955|PMID:3592367|PMID:10803640|PMID:6368862|PMID:7768734|PMID:2475964|PMID:1917657|PMID:24302812|PMID:24332606|PMID:26153274|PMID:27387721|PMID:27525650|PMID:30020547|PMID:31113564|PMID:31711409|PMID:31685133|PMID:30139545|PMID:31032534|PMID:35017851|PMID:8647944|PMID:28061549|PMID:31555677|PMID:36037240|PMID:31743433|PMID:36326478|PMID:36786530|PMID:36924353|PMID:37475133|PMID:37582787|PMID:16984822|PMID:18299336|PMID:35536118|PMID:37990577|PMID:40269978|PMID:40457124|PMID:40510379|PMID:40965331|PMID:41474640|PMID:41634979|PMID:42014054|PMID:42436707
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3602	toxic encephalopathy	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: 3435T>C(human)	PMID:17938643|REF_RGD_ID:11081146
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730823	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:20627363
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNPs: :2677G>T, 3435C>T(human)	PMID:17534875|REF_RGD_ID:11080964
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12015757
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :3435C>T (human)	PMID:12089380|REF_RGD_ID:2315559
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:17177989|REF_RGD_ID:2315557
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.1236C>T (human)	PMID:24040855|REF_RGD_ID:8657076
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:altered expression:brain, heart, kidney (rat)	PMID:24472536|REF_RGD_ID:11041168
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:526	human immunodeficiency virus infectious disease	severity	ISO	RGD:730823	D	RGD:9068941	20201002	RGD			PMID:27334660|REF_RGD_ID:39456096
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:526	human immunodeficiency virus infectious disease	treatment	ISO	RGD:730823	D	RGD:9068941	20201002	RGD		DNA:SNPs: :4036A>G, 1236C>T (human)	PMID:23133441|REF_RGD_ID:39456100
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:557	kidney disease		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24502637
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16950614
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:635	acquired immunodeficiency syndrome	treatment	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:SNP: : rs10276036(human)	PMID:24517233|REF_RGD_ID:11098698
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:635	acquired immunodeficiency syndrome	treatment	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:haplotype: :3435T>C((rs1045642), 2677T>G (rs2032582) (human)	PMID:23372834|REF_RGD_ID:39456119
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : c.1465C > T(human)	PMID:23488625|REF_RGD_ID:14700904
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.3751G>A(human)	PMID:24175826|REF_RGD_ID:14700905
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20080907|PMID:22104130
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:769	neuroblastoma		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8761367
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:783	end stage renal disease		ISO	RGD:619951	D	RGD:9068941	20200609	RGD			PMID:17135344|REF_RGD_ID:2301067
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :3435C>T (human)	PMID:26250462|REF_RGD_ID:11081180
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNPs: :1236T>C,2677G>A(human)	PMID:24581936|REF_RGD_ID:11081178
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:15505619|REF_RGD_ID:1598568
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:863	nervous system disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17015054|PMID:21064136
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:8677	perinatal necrotizing enterocolitis	susceptibility	ISO	RGD:1620890	D	RGD:9068941	20200609	RGD			PMID:21788941|REF_RGD_ID:8657143
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:15505619|REF_RGD_ID:1598568
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000046	Poisoning		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23562926
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21332314
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22311042
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms	disease_progression	ISO	RGD:730823	D	RGD:9068941	20200609	RGD			PMID:9713510|REF_RGD_ID:2315562
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000641	Pain		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28193520
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000740	ST Elevation Myocardial Infarction	treatment	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1045642,rs7779562(human)	PMID:25217066|REF_RGD_ID:14700903
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000918	Disease Progression		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20627363
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12015757
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001189	Drug Overdose	susceptibility	ISO	RGD:730823	D	RGD:9068941	20231202	RGD		DNA:SNPs:exons :3435C>T (rs1045642), 1236C>T (rs1128503)(human)	PMID:23515680|REF_RGD_ID:401901187
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001371	Eosinophilia		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with Chronic Rhinosinusitis;protein:increased expression:mucosa of ethmoidal sinus (human)	PMID:24717943|REF_RGD_ID:8657092
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with Chronic Rhinosinusitis;protein:increased expression:nasal sinus (human)	PMID:22223515|REF_RGD_ID:8657074
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16182555
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9001827	Critical Illness	treatment	ISO	RGD:730823	D	RGD:9068941	20201002	RGD		DNA:SNP:exon:3435C>T(human)	PMID:29979333|REF_RGD_ID:39456099
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:placenta	PMID:16225763|REF_RGD_ID:2306659
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22311042
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver	PMID:19152228|REF_RGD_ID:2315573
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:intestinal mucosa (rat)	PMID:17827786|REF_RGD_ID:11040994
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17827786
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9002953	Escherichia Coli Infections		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24498193
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		associated with Alcohol-Related Disorders;DNA:SNP:rs13233308 (human)	PMID:28422712|REF_RGD_ID:401901196
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9003971	Postoperative Pain		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20627697
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22749977
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004017	Chronic Hepatitis C	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNP::2677G>T/A(rs2032582)(human)	PMID:26922556|REF_RGD_ID:11574565
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNP: :3435C>T(human)	PMID:29155127|REF_RGD_ID:14700907
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		Breast Neoplasms;DNA:SNP: :3435 C>T(human)	PMID:22271208|REF_RGD_ID:11081001
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP: :2677G>T(human)	PMID:17534875|REF_RGD_ID:11080964
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNPs:rs1045642,rs1128503(human)	PMID:25007187|REF_RGD_ID:11080979
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9004751	Nausea		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21840870
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1620890	D	RGD:9068941	20200609	RGD			PMID:19654309|REF_RGD_ID:2315553
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:17664251|REF_RGD_ID:2312730
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		protein: decreased expression	PMID:17074306|REF_RGD_ID:1598559
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	disease_progression	ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum, intestinal mucosa (rat)	PMID:26460146|REF_RGD_ID:11041112
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:619951	D	RGD:9068941	20200609	RGD			PMID:21685928|REF_RGD_ID:8657121
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:26977098|REF_RGD_ID:11041000
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9005950	Orthostatic Hypotension		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12082591
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22311042
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1620890	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:24502637|PMID:28193520|PMID:32387182
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794|PMID:20563569|PMID:21064136|PMID:25007187
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1620890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26134275
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1620890	D	RGD:9068941	20200609	RGD			PMID:26134275|REF_RGD_ID:11041130
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:SNP::2677G>T/A(rs2032582)(human)	PMID:27296832|REF_RGD_ID:14700895
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007432	Latent Tuberculosis		ISO	RGD:730823	D	RGD:9068941	20210212	RGD		mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human)	PMID:29602771|REF_RGD_ID:41404732
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007659	Anthracycline-induced Cardiotoxicity	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G671V (human)	PMID:16330681|REF_RGD_ID:11041175
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9007973	Genetic Translocation		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21325069
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008114	Helicobacter Infections	no_association	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		DNA:haplotype: :3435T> C,2677T>G ,1236C>T (human)	PMID:27611887|REF_RGD_ID:39456122
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008114	Helicobacter Infections	sexual_dimorphism	ISO	RGD:730823	D	RGD:9068941	20201008	RGD		associated with peptic ulcer disease;DNA:SNP: :3435C>T(human)	PMID:22001987|REF_RGD_ID:39456093
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008385	Vomiting		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21840870
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766|PMID:23977225
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22311042
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :3435C>T (human)	PMID:19752884|REF_RGD_ID:2315550
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9009091	ENCEPHALOPATHY, ACUTE TRANSIENT		ISO	RGD:730823	D	RGD:7240710	20240925	OMIM			
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9009091	ENCEPHALOPATHY, ACUTE TRANSIENT		ISO	RGD:730823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, ACUTE TRANSIENT	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9009159	Audiogenic Epilepsy		ISO	RGD:619951	D	RGD:9068941	20241102	RGD		mRNA:increased expression:cerebral cortex, midbrain (rat)	PMID:12423380|REF_RGD_ID:8657333
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:730823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon (human)	PMID:19470683|REF_RGD_ID:2312331
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9505	cannabis abuse		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19625010
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9588	encephalitis		ISO	RGD:619951	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain, liver (rat)	PMID:12746221|REF_RGD_ID:8657083
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:730823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:730823	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:multiple (human)	PMID:22674224|REF_RGD_ID:8657089
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9974	drug dependence	treatment	ISO	RGD:730823	D	RGD:9068941	20231207	RGD		DNA:polymorphisms: :2677G>T, ���1236C>T (human)	PMID:24455721|REF_RGD_ID:401901193
12063362	ABCB1	ATP binding cassette subfamily B member 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:730823	D	RGD:9068941	20240302	RGD		associated with methadone treatment;DNA:SNP:intron (rs1128503) (human)	PMID:29173032|REF_RGD_ID:401976557
12063399	MITD1	microtubule interacting and trafficking domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063399	MITD1	microtubule interacting and trafficking domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063399	MITD1	microtubule interacting and trafficking domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063410	DLGAP3	DLG associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0050840	cervical dystonia		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0060249	scoliosis		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0080130	mitochondrial DNA depletion syndrome 12a		ISO	RGD:732748	D	RGD:7240710	20190315	OMIM			
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0080130	mitochondrial DNA depletion syndrome 12a		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 12A (CARDIOMYOPATHIC TYPE), AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0080335	mitochondrial DNA depletion syndrome 12b		ISO	RGD:732748	D	RGD:7240710	20180130	OMIM			
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0080335	mitochondrial DNA depletion syndrome 12b		ISO	RGD:732748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive	PMID:23401503|PMID:25732997|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:29892051|PMID:30046662|PMID:30174309|PMID:31028937|PMID:38703036|PMID:9207786
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0110429	dilated cardiomyopathy 1H		ISO	RGD:732748	D	RGD:9068941	20200609	RGD			PMID:12056860|REF_RGD_ID:9681470
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2		ISO	RGD:732748	D	RGD:7240710	20180130	OMIM			
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:0111517	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2		ISO	RGD:732748	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	PMID:23401503|PMID:25732997|PMID:25741868|PMID:26467025|PMID:27693233|PMID:28492532|PMID:29892051|PMID:30174309|PMID:31028937|PMID:9207786
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732748	D	RGD:9068941	20200609	RGD			PMID:21958963|REF_RGD_ID:9681463
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:732748	D	RGD:9068941	20200609	RGD			PMID:15551024|REF_RGD_ID:1580621
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732748	D	RGD:9068941	20260521	RGD			PMID:16155110|REF_RGD_ID:1580619
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:732748	D	RGD:9068941	20260604	RGD			PMID:12565915|PMID:15792871|REF_RGD_ID:1580620|REF_RGD_ID:1580622
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13471403|RGD:13627150	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28492532
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:620352	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:myocardium	PMID:21169901|REF_RGD_ID:9681464
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:1324	lung cancer		ISO	RGD:732748	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:732748	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:423	myopathy		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:630	genetic disease		ISO	RGD:732748	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:699	mitochondrial myopathy		ISO	RGD:732748	D	RGD:9068941	20260521	RGD			PMID:16155110|REF_RGD_ID:1580619
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:732748	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9001510	Funnel Chest		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620352	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:17210842|REF_RGD_ID:9681469
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732748	D	RGD:9068941	20260521	RGD			PMID:16501242|REF_RGD_ID:1580618
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9005077	Joint Instability		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:732748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18945756
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9007346	Cachexia		ISO	RGD:620352	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma	PMID:23200745|REF_RGD_ID:13782066
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620352	D	RGD:9068941	20200609	RGD			PMID:24126566|REF_RGD_ID:9681554
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732748	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Family history of sudden cardiac death	PMID:25741868|PMID:28492532
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063427	SLC25A4	solute carrier family 25 member 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:732748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27693233|PMID:28492532|PMID:32827528
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:7240710	20260603	OMIM			
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0070722	adult-onset leukoencephalopathy without lacunae		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITHOUT LACUNAE, ADULT-ONSET	PMID:25741868|PMID:28492532|PMID:34606115
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:7240710	20180130	OMIM			
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0112230	leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LAMB1-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VARIABLE CORTICAL BRAIN MALFORMATIONS AND/OR HYDROCEPHALUS | ClinVar Annotator: match by term: Lissencephaly 5	PMID:16199547|PMID:17576681|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312|PMID:9536098
12063435	LAMB1	laminin subunit beta 1	gene	DOID:0112237	lissencephaly 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
12063435	LAMB1	laminin subunit beta 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1314859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314859	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17576681|PMID:28492532|PMID:36939041|PMID:9536098
12063435	LAMB1	laminin subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:12270	coloboma		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18809619
12063435	LAMB1	laminin subunit beta 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:1826	epilepsy		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1314859	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:289	endometriosis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12063435	LAMB1	laminin subunit beta 1	gene	DOID:3070	high grade glioma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:3642	empty sella syndrome		ISO	RGD:1314859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Empty sella syndrome	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28444932
12063435	LAMB1	laminin subunit beta 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1314859	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12063435	LAMB1	laminin subunit beta 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915572
12063435	LAMB1	laminin subunit beta 1	gene	DOID:8927	learning disability		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9008500	Classical Lissencephalies and Subcortical Band Heterotopias		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic lissencephaly	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12063435	LAMB1	laminin subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:23472759|PMID:25741868|PMID:25925986|PMID:28492532|PMID:38838312
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:50	thyroid gland disease		ISO	RGD:1314963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314963	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12063470	GULP1	GULP PTB domain containing engulfment adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314963	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:9000096	Lung Agenesis		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063515	CDK5RAP3	CDK5 regulatory subunit associated protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063533	CETN2	centrin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063533	CETN2	centrin 2	gene	DOID:1115	sarcoma		ISO	RGD:736112	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063533	CETN2	centrin 2	gene	DOID:1324	lung cancer		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063533	CETN2	centrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063533	CETN2	centrin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063533	CETN2	centrin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063533	CETN2	centrin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:731305	D	RGD:9068941	20260813	RGD			PMID:21618602|REF_RGD_ID:596933092
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:734445	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:18414406|PMID:18519132|PMID:20372150|PMID:28472521
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		associated with smoking; DNA:SNP::rs16969968 (human)	PMID:29993116|REF_RGD_ID:150526806
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:734445	D	RGD:9068941	20231130	RGD		DNA:SNP, missense:CDS:rs16969968 (human)	PMID:27663783|REF_RGD_ID:401901143
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs16969968(human)	PMID:19706762|REF_RGD_ID:150524362
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP:intron:rs17486278(human)	PMID:20587604|REF_RGD_ID:150527839
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734445	D	RGD:9068941	20240523	RGD		DNA:SNPs: :rs16969968, rs2036527(human)	PMID:29621993|REF_RGD_ID:405849275
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:734445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18184829
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:0081013	severe COVID-19		ISO	RGD:734445	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Susceptibility to severe coronavirus disease (COVID-19) due to high levels of fibrinogen and C-reactive protein	PMID:18618000|PMID:19132693|PMID:19706762|PMID:20485328|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:734445	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:14996991|PMID:9495872
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:1324	lung cancer		ISO	RGD:734445	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer susceptibility 2	PMID:18618000|PMID:19132693|PMID:19706762|PMID:20485328|PMID:20840187|PMID:20886544|PMID:21418140|PMID:22046326|PMID:22648373|PMID:22992668|PMID:24733007|PMID:27355804|PMID:29196725|PMID:29621993|PMID:29666375|PMID:30453884|PMID:31402126|PMID:31796940
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:734445	D	RGD:7240710	20230505	OMIM			
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:734445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18414406
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:734445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19220484|PMID:29944862
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:303	substance-related disorder		ISO	RGD:734445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20438829
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734445	D	RGD:9068941	20260813	RGD		DNA:SNP, haplotype: :rs16969968	PMID:28474623|REF_RGD_ID:645135162
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		associated with lung cancer; DNA:SNP::rs16969968 (human)	PMID:33419953|REF_RGD_ID:150524357
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		associated with smoking; DNA:SNP::rs16969968 (human)	PMID:29993116|REF_RGD_ID:150526806
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:734445	D	RGD:9068941	20220224	RGD		mRNA:increased expression:esophagus (human)	PMID:27610024|REF_RGD_ID:151361143
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs667282(human)	PMID:23844051|REF_RGD_ID:150524358
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734445	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs503464(human)	PMID:23314339|REF_RGD_ID:150527849
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs667282(human)	PMID:27050379|REF_RGD_ID:150527847
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:734445	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP:cds: p.D398N(human)	PMID:19577767|REF_RGD_ID:150524359
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs503464(human)	PMID:23314339|REF_RGD_ID:150527849
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		associated with smoking; DNA:SNPs: :rs2036527, rs684513, rs667282(human)	PMID:20554942|REF_RGD_ID:150527848
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:4556	lung large cell carcinoma		ISO	RGD:734445	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:734445	D	RGD:9068941	20211203	RGD		mRNA:increased expression:lung	PMID:20124469|REF_RGD_ID:150527851
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:809	cocaine abuse	onset	ISO	RGD:734445	D	RGD:9068941	20211210	RGD		DNA:SNP:exon:rs16969968(human)	PMID:32841724|REF_RGD_ID:150530292
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2347	D	RGD:9068941	20211210	RGD		protein:increased expression:spinal nerve	PMID:15652389|REF_RGD_ID:150530460
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:9002211	Hyperalgesia	ameliorates	ISO	RGD:2347	D	RGD:9068941	20211210	RGD			PMID:15652389|REF_RGD_ID:150530460
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734445	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18385738
12063542	CHRNA5	cholinergic receptor nicotinic alpha 5 subunit	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:734445	D	RGD:9068941	20211203	RGD		DNA:SNP: :rs3841324(human)	PMID:25329654|REF_RGD_ID:150527838
12063551	EVA1A	eva-1 homolog A, regulator of programmed cell death	gene	DOID:3275	thymoma		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063551	EVA1A	eva-1 homolog A, regulator of programmed cell death	gene	DOID:4362	cervical cancer		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063551	EVA1A	eva-1 homolog A, regulator of programmed cell death	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063551	EVA1A	eva-1 homolog A, regulator of programmed cell death	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:733617	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063585	ABTB2	ankyrin repeat and BTB domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063637	CILP2	cartilage intermediate layer protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063637	CILP2	cartilage intermediate layer protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063637	CILP2	cartilage intermediate layer protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063637	CILP2	cartilage intermediate layer protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:10534	stomach cancer		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:1115	sarcoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:1909	melanoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:3275	thymoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:37	skin disease		ISO	RGD:735560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:3978	extrinsic cardiomyopathy		ISO	RGD:735561	D	RGD:9068941	20240425	MouseDO			
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:4362	cervical cancer		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:735561	D	RGD:9068941	20210212	RGD		associated with Endotoxemia;mRNA, protein:increased expression:lung (mouse)	PMID:31167111|REF_RGD_ID:41410778
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:735560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12063654	PFKFB3	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	gene	DOID:9970	obesity		ISO	RGD:735560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12063684	SLC45A3	solute carrier family 45 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063684	SLC45A3	solute carrier family 45 member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1346444	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12063684	SLC45A3	solute carrier family 45 member 3	gene	DOID:3307	teratoma		ISO	RGD:1346444	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12063684	SLC45A3	solute carrier family 45 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063684	SLC45A3	solute carrier family 45 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:10534	stomach cancer		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1344019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063701	UNC5A	unc-5 netrin receptor A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:10763	hypertension		ISO	RGD:3195	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter: (rat)	PMID:12511524|REF_RGD_ID:628585
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:10763	hypertension		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881240
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:1909	melanoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:732882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:3275	thymoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:11007	D	RGD:9068941	20200609	RGD			PMID:19223006|REF_RGD_ID:7247722
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:557	kidney disease		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881240
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:732882	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.M341I (human)	PMID:14646971|REF_RGD_ID:1580174
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:11007	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:9405681|REF_RGD_ID:737701
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:11007	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:17264312|REF_RGD_ID:7247730
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881240
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9000641	Pain		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27687165
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9000784	Fibrosis		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881240
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11007	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:9405681|REF_RGD_ID:737701
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20881240
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9004080	Aortic Rupture		ISO	RGD:11007	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:9405681|REF_RGD_ID:737701
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3195	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:16272201|REF_RGD_ID:1580154
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063730	NPR1	natriuretic peptide receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063764	ZBTB26	zinc finger and BTB domain containing 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063777	VGLL3	vestigial like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063777	VGLL3	vestigial like family member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12063777	VGLL3	vestigial like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063777	VGLL3	vestigial like family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:10534	stomach cancer		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:1909	melanoma		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063783	P3H4	prolyl 3-hydroxylase family member 4 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:3275	thymoma		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1320780	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063795	SDF2L1	stromal cell derived factor 2 like 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1585844	D	RGD:9068941	20200609	RGD		DNA:deletion:exons, introns:g.3_910del (rat)	PMID:27463508|REF_RGD_ID:11528530
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736759	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:1324	lung cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:736759	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063803	SIRPA	signal regulatory protein alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:7240710	20260603	OMIM			
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:0070711	Harel-Tora neurodevelopmental syndrome		ISO	RGD:1342958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAREL-TORA NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Harel-Tora neurodevelopmental syndrome	PMID:25741868
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:3275	thymoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1342958	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12063827	ATXN7L3	ataxin 7 like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063861	OR5AC26	olfactory receptor family 5 subfamily AC member 26	gene	DOID:10283	prostate cancer		ISO	RGD:1349503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12063861	OR5AC26	olfactory receptor family 5 subfamily AC member 26	gene	DOID:10283	prostate cancer		ISO	RGD:1349503	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12063871	ZNF775	zinc finger protein 775	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12063924	PLEKHF2	pleckstrin homology and FYVE domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12063993	RNF115	ring finger protein 115	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12063993	RNF115	ring finger protein 115	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:736402	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:1561	cognitive disorder		ISO	RGD:736402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:303	substance-related disorder		ISO	RGD:736402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:5295	intestinal disease		ISO	RGD:736402	D	RGD:9068941	20200609	RGD		primary bile acid malabsorption; DNA:point mutation:exon:L243P, T262M	PMID:9109432|REF_RGD_ID:1624186
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:863	nervous system disease		ISO	RGD:736402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:9002661	Diabetes Complications		ISO	RGD:736402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:9003880	Primary Bile Acid Malabsorption		ISO	RGD:736402	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:9007940	Primary Bile Acid Malabsorption 1		ISO	RGD:736402	D	RGD:7240710	20210825	OMIM			
12064012	SLC10A2	solute carrier family 10 member 2	gene	DOID:9007940	Primary Bile Acid Malabsorption 1		ISO	RGD:736402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bile acid malabsorption, primary, 1 | ClinVar Annotator: match by term: SLC10A2-related condition	PMID:17576681|PMID:19653651|PMID:25741868|PMID:28492532|PMID:30919572|PMID:34192422|PMID:9536098
12064020	ATXN10	ataxin 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064020	ATXN10	ataxin 10	gene	DOID:0050960	spinocerebellar ataxia 10		ISO	RGD:1351525	D	RGD:7240710	20180130	OMIM			
12064020	ATXN10	ataxin 10	gene	DOID:0050960	spinocerebellar ataxia 10		ISO	RGD:1351525	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ATXN10-related disorder | ClinVar Annotator: match by term: Spinocerebellar ataxia type 10	PMID:25741868
12064020	ATXN10	ataxin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1351525	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064020	ATXN10	ataxin 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064020	ATXN10	ataxin 10	gene	DOID:1115	sarcoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064020	ATXN10	ataxin 10	gene	DOID:3275	thymoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064020	ATXN10	ataxin 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12064020	ATXN10	ataxin 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064020	ATXN10	ataxin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064020	ATXN10	ataxin 10	gene	DOID:630	genetic disease		ISO	RGD:1351525	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12064020	ATXN10	ataxin 10	gene	DOID:9002121	Spinocerebellar Ataxias	susceptibility	ISO	RGD:1351525	D	RGD:9068941	20200609	RGD		DNA:repeat:intron 9	PMID:11017075|REF_RGD_ID:1599410
12064020	ATXN10	ataxin 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064020	ATXN10	ataxin 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:10283	prostate cancer		ISO	RGD:1603998	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:10534	stomach cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:1324	lung cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:1909	melanoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:2661	myoepithelioma		ISO	RGD:1603998	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:3275	thymoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:4362	cervical cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1603998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064041	ARHGEF40	Rho guanine nucleotide exchange factor 40	gene	DOID:9256	colorectal cancer		ISO	RGD:1603998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:1115	sarcoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:3275	thymoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:4362	cervical cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1317682	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34822033
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317682	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34822033
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064076	USP39	ubiquitin specific peptidase 39	gene	DOID:9256	colorectal cancer		ISO	RGD:1317682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:733921	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:733921	D	RGD:9068941	20200609	RGD			PMID:22586168|REF_RGD_ID:10402054
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064093	HBP1	HMG-box transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064112	OAT	ornithine aminotransferase	gene	DOID:1415	gyrate atrophy		ISO	RGD:1350711	D	RGD:7240710	20180130	OMIM			
12064112	OAT	ornithine aminotransferase	gene	DOID:1415	gyrate atrophy		ISO	RGD:1350711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GYRATE ATROPHY OF CHOROID AND RETINA | ClinVar Annotator: match by term: GYRATE ATROPHY OF CHOROID AND RETINA WITH PYRIDOXINE-RESPONSIVE ORNITHINEMIA | ClinVar Annotator: match by term: Gyrate atrophy | ClinVar Annotator: match by term: Gyrate atrophy of choroid and retina | ClinVar Annotator: match by term: Hyperornithinemia | ClinVar Annotator: match by term: Ornithine aminotransferase deficiency	PMID:10617919|PMID:11297489|PMID:11346393|PMID:11831916|PMID:12221166|PMID:1301936|PMID:1427882|PMID:1487247|PMID:15750329|PMID:1609808|PMID:16151897|PMID:16199547|PMID:1737786|PMID:1755734|PMID:17576681|PMID:19823873|PMID:1992472|PMID:21678528|PMID:22182799|PMID:2220818|PMID:22674428|PMID:23076989|PMID:24082780|PMID:24429551|PMID:2492100|PMID:25640679|PMID:25741868|PMID:26259030|PMID:27037922|PMID:27978498|PMID:28181551|PMID:28341476|PMID:28388263|PMID:28468868|PMID:28492532|PMID:28559085|PMID:29437727|PMID:29654911|PMID:29757052|PMID:30366948|PMID:30957963|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:33068755|PMID:33090715|PMID:3339136|PMID:33494148|PMID:3375240|PMID:34395527|PMID:34466343|PMID:35782600|PMID:35782604|PMID:35856163|PMID:36834788|PMID:36909829|PMID:37667371|PMID:38638626|PMID:38847892|PMID:39053126|PMID:39127396|PMID:39202380|PMID:39447872|PMID:39644342|PMID:40571344|PMID:7260021|PMID:7668253|PMID:7887415|PMID:8125717|PMID:8281144|PMID:8430317|PMID:8670789|PMID:9536098|PMID:9727717
12064112	OAT	ornithine aminotransferase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12064112	OAT	ornithine aminotransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12064112	OAT	ornithine aminotransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12064112	OAT	ornithine aminotransferase	gene	DOID:5723	optic atrophy		ISO	RGD:1350711	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12064112	OAT	ornithine aminotransferase	gene	DOID:630	genetic disease		ISO	RGD:1350711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12064112	OAT	ornithine aminotransferase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350711	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:1609808|PMID:1612597|PMID:16199547|PMID:1737786|PMID:22674428|PMID:23076989|PMID:2492100|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30094188|PMID:31589614|PMID:3196484|PMID:31964843|PMID:32531858|PMID:33068755|PMID:38638626|PMID:7887415
12064112	OAT	ornithine aminotransferase	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1350711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
12064112	OAT	ornithine aminotransferase	gene	DOID:9000641	Pain		ISO	RGD:1350711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868
12064112	OAT	ornithine aminotransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12064112	OAT	ornithine aminotransferase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1350711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:0061287	glycogen storage disease XII		ISO	RGD:30308195	D	RGD:7240710	20200624	OMIM			
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:30308195	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:12849	autistic disorder		ISO	RGD:30308195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 15	PMID:21681106|PMID:30208311
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:30308195	D	RGD:9068941	20200625	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:630	genetic disease		ISO	RGD:30308195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:30308195	D	RGD:9068941	20200625	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2089	D	RGD:9068941	20200609	RGD			PMID:10395295|REF_RGD_ID:1599061
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:30308195	D	RGD:9068941	20200625	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9005930	Endotoxemia		ISO	RGD:2089	D	RGD:9068941	20200609	RGD			PMID:16930621|REF_RGD_ID:1599054
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2089	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:21890532|REF_RGD_ID:13673877
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:30308195	D	RGD:9068941	20200625	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12064131	ALDOA	aldolase, fructose-bisphosphate A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:30308195	D	RGD:9068941	20200625	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
12064147	CCDC43	coiled-coil domain containing 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064147	CCDC43	coiled-coil domain containing 43	gene	DOID:10534	stomach cancer		ISO	RGD:1606980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064147	CCDC43	coiled-coil domain containing 43	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606980	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12064147	CCDC43	coiled-coil domain containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064147	CCDC43	coiled-coil domain containing 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064161	TXLNG	taxilin gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064161	TXLNG	taxilin gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064161	TXLNG	taxilin gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064161	TXLNG	taxilin gamma	gene	DOID:1909	melanoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064161	TXLNG	taxilin gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12064161	TXLNG	taxilin gamma	gene	DOID:4362	cervical cancer		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064161	TXLNG	taxilin gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064161	TXLNG	taxilin gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064193	ZNF703	zinc finger protein 703	gene	DOID:1909	melanoma		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064193	ZNF703	zinc finger protein 703	gene	DOID:2394	ovarian cancer		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12064193	ZNF703	zinc finger protein 703	gene	DOID:4362	cervical cancer		ISO	RGD:1602208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064193	ZNF703	zinc finger protein 703	gene	DOID:6039	uveal melanoma		ISO	RGD:1602208	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1601883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12064199	RPRD2	regulation of nuclear pre-mRNA domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:1115	sarcoma		ISO	RGD:1320262	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:4362	cervical cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320262	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064222	RGL3	ral guanine nucleotide dissociation stimulator like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1604775	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:1909	melanoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064264	FHIP1B	FHF complex subunit HOOK interacting protein 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1318099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome	PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20464292|PMID:20653736|PMID:21102625|PMID:21204240|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24183309|PMID:24445253|PMID:24989684|PMID:25604658|PMID:25741868|PMID:26273690|PMID:26431200|PMID:26467025|PMID:27604406|PMID:27943079|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28739201|PMID:29379009|PMID:30275001|PMID:32371413|PMID:32384610|PMID:33683010|PMID:34492268|PMID:35418820|PMID:35418821|PMID:35547545|PMID:35573950|PMID:35590234|PMID:36115319|PMID:37152446|PMID:38368708|PMID:9536098
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1324	lung cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:34976810|PMID:35101336
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1826	epilepsy		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22461318|PMID:25604658|PMID:25741868|PMID:28229507
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1883	hepatitis C		ISO	RGD:1318099	D	RGD:9068941	20210730	RGD		associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)	PMID:24317272|REF_RGD_ID:149735572
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1909	melanoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1318099	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:2043	hepatitis B		ISO	RGD:1318099	D	RGD:9068941	20210730	RGD		associated with hepatocellular carcinoma;DNA:insertion:exon 4: (human)	PMID:24317272|REF_RGD_ID:149735572
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:630	genetic disease		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19525956|PMID:22461318|PMID:28492532|PMID:29379009|PMID:39031459
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9000761	Deoxyguanosine Kinase Deficiency		ISO	RGD:1318099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26342080
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004067	Chilblain Lupus 2		ISO	RGD:1318099	D	RGD:7240710	20180130	OMIM			
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004067	Chilblain Lupus 2		ISO	RGD:1318099	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chilblain lupus 2 | ClinVar Annotator: match by term: SAMHD1-related condition	PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:21204240|PMID:21402907|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24183309|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27604406|PMID:27943079|PMID:28229507|PMID:28492532|PMID:30275001|PMID:33857133
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9004248	Chilblains		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chilblains	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9005881	Chilblain Lupus 1		ISO	RGD:1318099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27566796
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9006262	Cytomegalovirus Infections	exacerbates	ISO	RGD:1318100	D	RGD:9068941	20210723	RGD			PMID:31548683|REF_RGD_ID:149735526
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:1318099	D	RGD:7240710	20180130	OMIM			
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:1318099	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 5 | ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5	PMID:16199547|PMID:17576681|PMID:19525956|PMID:20131292|PMID:20358604|PMID:20653736|PMID:21102625|PMID:21204240|PMID:22461318|PMID:22973040|PMID:24033266|PMID:24035396|PMID:24141705|PMID:24183309|PMID:24300241|PMID:25604658|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26504826|PMID:27071091|PMID:27604406|PMID:27643693|PMID:27943079|PMID:28229507|PMID:28454995|PMID:28492532|PMID:28851465|PMID:29239743|PMID:29379009|PMID:29758562|PMID:30275001|PMID:31130681|PMID:31797533|PMID:33307271|PMID:33683010|PMID:33967934|PMID:41496005|PMID:9536098
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1318099	D	RGD:9068941	20210723	RGD		human cell line in mouse model	PMID:30474474|REF_RGD_ID:149735523
12064306	SAMHD1	SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1318099	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:1115	sarcoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:1909	melanoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315548	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064329	TM7SF3	transmembrane 7 superfamily member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:33508234
12064349	TRIM8	tripartite motif containing 8	gene	DOID:1826	epilepsy		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33508234
12064349	TRIM8	tripartite motif containing 8	gene	DOID:1909	melanoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064349	TRIM8	tripartite motif containing 8	gene	DOID:630	genetic disease		ISO	RGD:1319835	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33508234
12064349	TRIM8	tripartite motif containing 8	gene	DOID:9001434	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome		ISO	RGD:1319835	D	RGD:7240710	20210818	OMIM			
12064349	TRIM8	tripartite motif containing 8	gene	DOID:9001434	Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome		ISO	RGD:1319835	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis and neurodevelopmental syndrome | ClinVar Annotator: match by term: TRIM8-related condition	PMID:23934111|PMID:25741868|PMID:27346735|PMID:28492532|PMID:29758562|PMID:30244534|PMID:32193649|PMID:32531461|PMID:33508234|PMID:34930159|PMID:35032046|PMID:37061734|PMID:38674071|PMID:39708126
12064349	TRIM8	tripartite motif containing 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:30244534|PMID:33508234
12064349	TRIM8	tripartite motif containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064359	GATA3	GATA binding protein 3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12064359	GATA3	GATA binding protein 3	gene	DOID:0060180	colitis	treatment	ISO	RGD:621250	D	RGD:9068941	20250925	RGD			PMID:26306417|REF_RGD_ID:628359043
12064359	GATA3	GATA binding protein 3	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
12064359	GATA3	GATA binding protein 3	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:733638	D	RGD:7240710	20180130	OMIM			
12064359	GATA3	GATA binding protein 3	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:733638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GATA3-related condition | ClinVar Annotator: match by term: HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA SYNDROME | ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome	PMID:10935639|PMID:11389161|PMID:14985365|PMID:15705923|PMID:16199547|PMID:16509533|PMID:16912130|PMID:17210674|PMID:18621058|PMID:19057839|PMID:21120445|PMID:21242646|PMID:23142663|PMID:23435732|PMID:24033266|PMID:24429398|PMID:25137426|PMID:25741868|PMID:26282285|PMID:26316437|PMID:26467025|PMID:26514990|PMID:26777049|PMID:27387476|PMID:28492532|PMID:29398643|PMID:29663634|PMID:30311386|PMID:30534854|PMID:31433868|PMID:32442337|PMID:35101336|PMID:36549658|PMID:36703223|PMID:37095353|PMID:39252126|PMID:40794449
12064359	GATA3	GATA binding protein 3	gene	DOID:0080146	childhood B-cell acute lymphoblastic leukemia		ISO	RGD:733638	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: B-cell childhood acute lymphoblastic leukemia	PMID:23996088|PMID:24141364|PMID:24203929|PMID:25468567|PMID:30859636
12064359	GATA3	GATA binding protein 3	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:0080600	COVID-19		ISO	RGD:733638	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12064359	GATA3	GATA binding protein 3	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
12064359	GATA3	GATA binding protein 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11389161|PMID:21120445|PMID:25137426|PMID:25741868|PMID:26316437|PMID:28492532|PMID:30534854
12064359	GATA3	GATA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064359	GATA3	GATA binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:733638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064359	GATA3	GATA binding protein 3	gene	DOID:11199	hypoparathyroidism		ISO	RGD:733638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:11389161|PMID:21120445|PMID:25137426|PMID:25741868|PMID:26316437|PMID:28492532|PMID:30534854
12064359	GATA3	GATA binding protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12064359	GATA3	GATA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064359	GATA3	GATA binding protein 3	gene	DOID:13543	hyperparathyroidism		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:14985365|PMID:21120445|PMID:21242646|PMID:25741868|PMID:28492532
12064359	GATA3	GATA binding protein 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23435732|PMID:27588951|PMID:29535312|PMID:32232341|PMID:35101336
12064359	GATA3	GATA binding protein 3	gene	DOID:1824	status epilepticus		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
12064359	GATA3	GATA binding protein 3	gene	DOID:2237	hepatitis		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatitis	
12064359	GATA3	GATA binding protein 3	gene	DOID:2527	nephrosis		ISO	RGD:733638	D	RGD:9068941	20200609	RGD		HDR Syndrome/Barakat Syndrome, OMIM:146255    DNA:point_mutation, deletion, deletion:CDS:Arg277Ter, 49bpDELnt465-513, 12bpDELnt946-957	PMID:10935639|REF_RGD_ID:1358706
12064359	GATA3	GATA binding protein 3	gene	DOID:2841	asthma		ISO	RGD:733638	D	RGD:9068941	20200609	RGD			PMID:9949310|REF_RGD_ID:5128802
12064359	GATA3	GATA binding protein 3	gene	DOID:2841	asthma	severity	ISO	RGD:733638	D	RGD:9068941	20251204	RGD			PMID:27079298|REF_RGD_ID:629107239
12064359	GATA3	GATA binding protein 3	gene	DOID:2841	asthma	treatment	ISO	RGD:621250	D	RGD:9068941	20250925	RGD			PMID:16635408|PMID:18186587|REF_RGD_ID:5128803|REF_RGD_ID:628359045
12064359	GATA3	GATA binding protein 3	gene	DOID:305	carcinoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12064359	GATA3	GATA binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064359	GATA3	GATA binding protein 3	gene	DOID:557	kidney disease		ISO	RGD:733638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:11389161|PMID:21120445|PMID:25137426|PMID:25741868|PMID:26316437|PMID:28492532|PMID:30534854
12064359	GATA3	GATA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064359	GATA3	GATA binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12064359	GATA3	GATA binding protein 3	gene	DOID:6364	migraine		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12064359	GATA3	GATA binding protein 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
12064359	GATA3	GATA binding protein 3	gene	DOID:7188	autoimmune thyroiditis	treatment	ISO	RGD:621250	D	RGD:9068941	20250920	RGD			PMID:26523790|REF_RGD_ID:628359025
12064359	GATA3	GATA binding protein 3	gene	DOID:769	neuroblastoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30127528
12064359	GATA3	GATA binding protein 3	gene	DOID:783	end stage renal disease		ISO	RGD:733638	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037568
12064359	GATA3	GATA binding protein 3	gene	DOID:9000156	Metaplasia		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
12064359	GATA3	GATA binding protein 3	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12064359	GATA3	GATA binding protein 3	gene	DOID:9000445	Azotemia		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azotemia	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:621250	D	RGD:9068941	20200609	RGD			PMID:20118299|REF_RGD_ID:5128801
12064359	GATA3	GATA binding protein 3	gene	DOID:9001371	Eosinophilia		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27315767
12064359	GATA3	GATA binding protein 3	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:621250	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spleen	PMID:16336837|REF_RGD_ID:2314191
12064359	GATA3	GATA binding protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733638	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:9004484	Sepsis	severity	ISO	RGD:733638	D	RGD:9068941	20200806	RGD			PMID:25403265|REF_RGD_ID:38455982
12064359	GATA3	GATA binding protein 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:733638	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386
12064359	GATA3	GATA binding protein 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12064359	GATA3	GATA binding protein 3	gene	DOID:9005372	Inflammation		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22325453
12064359	GATA3	GATA binding protein 3	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:733638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
12064359	GATA3	GATA binding protein 3	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:9007402	Gliosis		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
12064359	GATA3	GATA binding protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12064359	GATA3	GATA binding protein 3	gene	DOID:9007702	Carcinogenesis		ISO	RGD:733638	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115686
12064359	GATA3	GATA binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:35101336
12064359	GATA3	GATA binding protein 3	gene	DOID:9009050	Hypocalcemia		ISO	RGD:733638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:14985365|PMID:19057839|PMID:21242646|PMID:25741868|PMID:28492532
12064359	GATA3	GATA binding protein 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:733638	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:35115686
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:1315453	D	RGD:9068941	20260604	MouseDO		OMIM:203100 | OMIM:203200 | OMIM:203290 | OMIM:606574 | OMIM:606952 | OMIM:614473 | OMIM:615312	
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:7240710	20180130	OMIM			
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0070098	oculocutaneous albinism type IV		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism, oculocutaneous, type IV | ClinVar Annotator: match by term: OCULOCUTANEOUS ALBINISM, TYPE IV | ClinVar Annotator: match by term: Oculocutaneous albinism type 4 | ClinVar Annotator: match by term: SLC45A2-related condition | ClinVar Annotator: match by term: oculocutaneous albinism type 4	PMID:14722913|PMID:14961451|PMID:15565285|PMID:16868655|PMID:16965274|PMID:17044855|PMID:17768386|PMID:18463683|PMID:19220778|PMID:19865097|PMID:20301683|PMID:21287499|PMID:21458243|PMID:22042571|PMID:23165166|PMID:23504663|PMID:24617981|PMID:24845642|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27019209|PMID:27706749|PMID:27734839|PMID:28457509|PMID:28492532|PMID:28976636|PMID:29345414|PMID:30019506|PMID:31077556|PMID:31229681|PMID:31589614|PMID:32552135|PMID:34078970|PMID:34838614|PMID:34897530|PMID:36553465|PMID:37327787|PMID:38337174|PMID:38720644
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:0080980	arthrogryposis multiplex congenita-4		IAGP		D	RGD:12801476	20250716	OMIA		Coat colour, albinism, oculocutaneous type IV	PMID:24647637|PMID:25790827|PMID:28737247|PMID:34751460|PMID:34861369|PMID:35510419|PMID:37277858|PMID:37582787
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:1909	melanoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563784|PMID:21559390
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1315452	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532|PMID:29345414|PMID:36553465
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578363
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:303	substance-related disorder		ISO	RGD:1315452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18463683|PMID:21458243|PMID:23504663|PMID:25741868|PMID:26573111|PMID:28492532
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:630	genetic disease		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34838614
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9001386	Albinism		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: foveal hypoplasia	PMID:25741868
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9004898	Jaundice		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315452	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:14961451|PMID:25741868|PMID:28492532|PMID:28976636|PMID:29345414
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:7240710	20200506	OMIM			
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9006017	Skin/Hair/Eye Pigmentation, Variation In, 5		ISO	RGD:1315452	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 5	PMID:14961451|PMID:18463683|PMID:21458243|PMID:23504663|PMID:25326637|PMID:25741868|PMID:26573111|PMID:26818737|PMID:27734839|PMID:28492532|PMID:28976636|PMID:29345414|PMID:31077556|PMID:34838614
12064380	SLC45A2	solute carrier family 45 member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pendular nystagmus	PMID:25741868|PMID:27734839|PMID:28492532|PMID:34838614
12064398	EPN3	epsin 3	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1315016	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: recessive dystrophic epidermolysis bullosa	PMID:25741868
12064398	EPN3	epsin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315016	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064398	EPN3	epsin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064398	EPN3	epsin 3	gene	DOID:1324	lung cancer		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064398	EPN3	epsin 3	gene	DOID:3275	thymoma		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064398	EPN3	epsin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064398	EPN3	epsin 3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1315016	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12064418	SHPK	sedoheptulokinase	gene	DOID:10534	stomach cancer		ISO	RGD:1317524	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064418	SHPK	sedoheptulokinase	gene	DOID:1324	lung cancer		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064418	SHPK	sedoheptulokinase	gene	DOID:3275	thymoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064418	SHPK	sedoheptulokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064418	SHPK	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:7240710	20190315	OMIM			
12064418	SHPK	sedoheptulokinase	gene	DOID:9001808	SEDOHEPTULOKINASE DEFICIENCY		ISO	RGD:1317524	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: SEDOHEPTULOKINASE DEFICIENCY | ClinVar Annotator: match by term: SHPK-related condition	PMID:25647543|PMID:25741868|PMID:28492532
12064418	SHPK	sedoheptulokinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1345696	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1345696	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1345696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345696	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064430	SAPCD2	suppressor APC domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:10534	stomach cancer		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:1115	sarcoma		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:2394	ovarian cancer		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:5041	esophageal cancer		ISO	RGD:1354388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:630	genetic disease		ISO	RGD:1354388	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:9002422	Thrombocytopenia, Anemia, and Myelofibrosis		ISO	RGD:1354388	D	RGD:7240710	20190315	OMIM			
12064452	MPIG6B	megakaryocyte and platelet inhibitory receptor G6b	gene	DOID:9002422	Thrombocytopenia, Anemia, and Myelofibrosis		ISO	RGD:1354388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MPIG6B-related condition | ClinVar Annotator: match by term: Thrombocytopenia, anemia, and myelofibrosis	PMID:25741868|PMID:27743390|PMID:28492532
12064461	LIPI	lipase I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064461	LIPI	lipase I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12064461	LIPI	lipase I	gene	DOID:5041	esophageal cancer		ISO	RGD:1605865	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064461	LIPI	lipase I	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1605865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.C55Y	PMID:12719377|REF_RGD_ID:1625450
12064461	LIPI	lipase I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064461	LIPI	lipase I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064461	LIPI	lipase I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064494	LOC100683711	uncharacterized LOC100683711	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064494	LOC100683711	uncharacterized LOC100683711	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064494	LOC100683711	uncharacterized LOC100683711	gene	DOID:1115	sarcoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064494	LOC100683711	uncharacterized LOC100683711	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064494	LOC100683711	uncharacterized LOC100683711	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064500	CTPS1	CTP synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064500	CTPS1	CTP synthase 1	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1322315	D	RGD:9068941	20200609	RGD		mRNA:increased expression:biliary tract neoplasm (human)	PMID:12819026|REF_RGD_ID:2317903
12064500	CTPS1	CTP synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:7240710	20180130	OMIM			
12064500	CTPS1	CTP synthase 1	gene	DOID:0111938	immunodeficiency 24		ISO	RGD:1322315	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CTPS1-related condition | ClinVar Annotator: match by term: Immunodeficiency 24	PMID:17576681|PMID:28492532|PMID:9536098
12064500	CTPS1	CTP synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064500	CTPS1	CTP synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064500	CTPS1	CTP synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:24870241|PMID:25741868|PMID:27638562|PMID:28492532|PMID:32161190|PMID:9536098
12064500	CTPS1	CTP synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1322315	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasopharynx (human)	PMID:19302751|REF_RGD_ID:5132859
12064500	CTPS1	CTP synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12064500	CTPS1	CTP synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12064500	CTPS1	CTP synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064500	CTPS1	CTP synthase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064526	PRRG2	proline rich and Gla domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064656	CSN2	casein beta	gene	DOID:305	carcinoma		ISO	RGD:1352883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
12064656	CSN2	casein beta	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1352883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
12064656	CSN2	casein beta	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1352883	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942|PMID:9879772
12064656	CSN2	casein beta	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:61981	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
12064669	UBE2S	ubiquitin conjugating enzyme E2 S	gene	DOID:10534	stomach cancer		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064669	UBE2S	ubiquitin conjugating enzyme E2 S	gene	DOID:4362	cervical cancer		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064669	UBE2S	ubiquitin conjugating enzyme E2 S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064677	CSF2	colony stimulating factor 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22315502
12064677	CSF2	colony stimulating factor 2	gene	DOID:0050458	juvenile myelomonocytic leukemia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9389708|REF_RGD_ID:10449526
12064677	CSF2	colony stimulating factor 2	gene	DOID:0050852	limb ischemia		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:16648859|REF_RGD_ID:10449511
12064677	CSF2	colony stimulating factor 2	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11486401|PMID:11732872|PMID:7680712
12064677	CSF2	colony stimulating factor 2	gene	DOID:0080074	neural tube defect		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
12064677	CSF2	colony stimulating factor 2	gene	DOID:0080178	mucositis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8120554
12064677	CSF2	colony stimulating factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
12064677	CSF2	colony stimulating factor 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1354508	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
12064677	CSF2	colony stimulating factor 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21291297|REF_RGD_ID:5131508
12064677	CSF2	colony stimulating factor 2	gene	DOID:10325	silicosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21505002|REF_RGD_ID:10450467
12064677	CSF2	colony stimulating factor 2	gene	DOID:10914	amnestic disorder		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8877002
12064677	CSF2	colony stimulating factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11605069
12064677	CSF2	colony stimulating factor 2	gene	DOID:11339	pneumocystosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19487471|REF_RGD_ID:5131475
12064677	CSF2	colony stimulating factor 2	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:11179134|PMID:21478218|PMID:9763547|REF_RGD_ID:10449509|REF_RGD_ID:10449522|REF_RGD_ID:5131467
12064677	CSF2	colony stimulating factor 2	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1551314	D	RGD:9068941	20220825	MouseDO		OMIM:265120 | OMIM:300770 | OMIM:610913 | OMIM:610921 | OMIM:614370	
12064677	CSF2	colony stimulating factor 2	gene	DOID:1227	neutropenia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11264156|PMID:7875148
12064677	CSF2	colony stimulating factor 2	gene	DOID:1227	neutropenia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:10832225|REF_RGD_ID:10449510
12064677	CSF2	colony stimulating factor 2	gene	DOID:12449	aplastic anemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12221670|PMID:9885444
12064677	CSF2	colony stimulating factor 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872|PMID:8120554
12064677	CSF2	colony stimulating factor 2	gene	DOID:13375	temporal arteritis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9844760|REF_RGD_ID:11059502
12064677	CSF2	colony stimulating factor 2	gene	DOID:13949	interstitial cystitis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18848347|REF_RGD_ID:2317284
12064677	CSF2	colony stimulating factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple: Csf2,Ifng,Il3	PMID:21537082|REF_RGD_ID:5686773
12064677	CSF2	colony stimulating factor 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8297739
12064677	CSF2	colony stimulating factor 2	gene	DOID:1909	melanoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11061616
12064677	CSF2	colony stimulating factor 2	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:10830715|REF_RGD_ID:10450245
12064677	CSF2	colony stimulating factor 2	gene	DOID:2355	anemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872|PMID:8297739
12064677	CSF2	colony stimulating factor 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		associated with Respiratory Aspiration;protein:increased expression:serum	PMID:18557728|REF_RGD_ID:2317286
12064677	CSF2	colony stimulating factor 2	gene	DOID:2841	asthma		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:9717963|REF_RGD_ID:10449521
12064677	CSF2	colony stimulating factor 2	gene	DOID:2841	asthma		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20405019|REF_RGD_ID:5131473
12064677	CSF2	colony stimulating factor 2	gene	DOID:2841	asthma	severity	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:19213775|REF_RGD_ID:5131476
12064677	CSF2	colony stimulating factor 2	gene	DOID:305	carcinoma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11605069
12064677	CSF2	colony stimulating factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:19213775|REF_RGD_ID:5131476
12064677	CSF2	colony stimulating factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17894541
12064677	CSF2	colony stimulating factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:9881949|REF_RGD_ID:10449530
12064677	CSF2	colony stimulating factor 2	gene	DOID:530	eyelid disease		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17075842
12064677	CSF2	colony stimulating factor 2	gene	DOID:552	pneumonia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
12064677	CSF2	colony stimulating factor 2	gene	DOID:552	pneumonia		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:19633061|REF_RGD_ID:4142837
12064677	CSF2	colony stimulating factor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21326109|REF_RGD_ID:5131507
12064677	CSF2	colony stimulating factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
12064677	CSF2	colony stimulating factor 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:12731087|REF_RGD_ID:10450243
12064677	CSF2	colony stimulating factor 2	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:8469286|REF_RGD_ID:10450244
12064677	CSF2	colony stimulating factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
12064677	CSF2	colony stimulating factor 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621065	D	RGD:9068941	20201002	RGD		protein:decreased expression:serum (rat)	PMID:15238617|REF_RGD_ID:1302825
12064677	CSF2	colony stimulating factor 2	gene	DOID:7693	abdominal aortic aneurysm	severity	ISO	RGD:621065	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta:	PMID:15010288|REF_RGD_ID:10450246
12064677	CSF2	colony stimulating factor 2	gene	DOID:8893	psoriasis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7744320
12064677	CSF2	colony stimulating factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:15658127|REF_RGD_ID:10449531
12064677	CSF2	colony stimulating factor 2	gene	DOID:9000111	Radiation Injuries		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow,spleen:	PMID:7662961|REF_RGD_ID:10449513
12064677	CSF2	colony stimulating factor 2	gene	DOID:9000242	Lymphoma, AIDS-Related		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7680712|PMID:9817281
12064677	CSF2	colony stimulating factor 2	gene	DOID:9000641	Pain		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8622042
12064677	CSF2	colony stimulating factor 2	gene	DOID:9000998	Brain Injuries	disease_progression	ISO	RGD:621065	D	RGD:9068941	20200609	RGD			PMID:21515263|REF_RGD_ID:5686795
12064677	CSF2	colony stimulating factor 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:20427198|REF_RGD_ID:5131472
12064677	CSF2	colony stimulating factor 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:21474645|REF_RGD_ID:5131470
12064677	CSF2	colony stimulating factor 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1354508	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:38348709
12064677	CSF2	colony stimulating factor 2	gene	DOID:9003278	Residual Neoplasm		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14654953
12064677	CSF2	colony stimulating factor 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1354508	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189
12064677	CSF2	colony stimulating factor 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8120554
12064677	CSF2	colony stimulating factor 2	gene	DOID:9004484	Sepsis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10664226|REF_RGD_ID:10449523
12064677	CSF2	colony stimulating factor 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12064677	CSF2	colony stimulating factor 2	gene	DOID:9005036	Bacteremia	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD			PMID:2192004|REF_RGD_ID:10449532
12064677	CSF2	colony stimulating factor 2	gene	DOID:9005372	Inflammation		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159501
12064677	CSF2	colony stimulating factor 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8622042
12064677	CSF2	colony stimulating factor 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7960606
12064677	CSF2	colony stimulating factor 2	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1354508	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:20088864|REF_RGD_ID:4143440
12064677	CSF2	colony stimulating factor 2	gene	DOID:9007073	Cough	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:9525446|REF_RGD_ID:10449525
12064677	CSF2	colony stimulating factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17326190
12064677	CSF2	colony stimulating factor 2	gene	DOID:9007222	Bone Marrow Failure Disorders		ISO	RGD:1354508	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: therapeutic	PMID:38348709
12064677	CSF2	colony stimulating factor 2	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:1551314	D	RGD:9068941	20200609	RGD		associated with Neutropenia;	PMID:1966550|REF_RGD_ID:10449524
12064677	CSF2	colony stimulating factor 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15289873
12064677	CSF2	colony stimulating factor 2	gene	DOID:9008763	Femoral Fractures		ISO	RGD:621065	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21442011|REF_RGD_ID:5131471
12064677	CSF2	colony stimulating factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11325840
12064677	CSF2	colony stimulating factor 2	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11732872
12064677	CSF2	colony stimulating factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21441929
12064677	CSF2	colony stimulating factor 2	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:1826536|REF_RGD_ID:10449528
12064677	CSF2	colony stimulating factor 2	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17404324
12064677	CSF2	colony stimulating factor 2	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1354508	D	RGD:9068941	20200609	RGD			PMID:8035028|REF_RGD_ID:10449527
12064677	CSF2	colony stimulating factor 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1354508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7540856|PMID:8104070|PMID:8555506
12064692	BRD8	bromodomain containing 8	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1307003	D	RGD:9068941	20200609	RGD			PMID:19787264|REF_RGD_ID:9587763
12064692	BRD8	bromodomain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064692	BRD8	bromodomain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064692	BRD8	bromodomain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:289	endometriosis		ISO	RGD:1315939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12064692	BRD8	bromodomain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064692	BRD8	bromodomain containing 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064692	BRD8	bromodomain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1315939	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064692	BRD8	bromodomain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12064692	BRD8	bromodomain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064692	BRD8	bromodomain containing 8	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12064692	BRD8	bromodomain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064692	BRD8	bromodomain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064692	BRD8	bromodomain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:0080600	COVID-19		ISO	RGD:1343939	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:2841	asthma		ISO	RGD:11087	D	RGD:9068941	20260328	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:32570040|REF_RGD_ID:640480060
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343939	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064740	PGD	phosphogluconate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1604397	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106762
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604397	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1604397	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106762
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604397	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604397	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064757	G3BP1	G3BP stress granule assembly factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064773	ELAPOR1	endosome-lysosome associated apoptosis and autophagy regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:10534	stomach cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:1324	lung cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:2394	ovarian cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:3070	high grade glioma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:3275	thymoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1601798	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:6039	uveal melanoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064808	CCDC18	coiled-coil domain containing 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1601798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:10900517|PMID:11281458|PMID:12111638|PMID:17525176|PMID:17949918|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30825406|PMID:31456290|PMID:31651202|PMID:33749171|PMID:36284460|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731992	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:28492532|PMID:30718709
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731992	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:36909829|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050630	Aland Island eye disease		ISO	RGD:731992	D	RGD:7240710	20180130	OMIM			
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0050630	Aland Island eye disease		ISO	RGD:731992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAND ISLAND EYE DISEASE | ClinVar Annotator: match by term: Aland island eye disease | ClinVar Annotator: match by term: Forsius Eriksson type ocular albinism	PMID:11281458|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:28838317|PMID:30718709|PMID:30825406|PMID:33668843|PMID:38028590|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0110871	congenital stationary night blindness 2A		ISO	RGD:731992	D	RGD:7240710	20180130	OMIM			
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0110871	congenital stationary night blindness 2A		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 2A | ClinVar Annotator: match by term: Congenital stationary night blindness, type 2A | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, SEVERE	PMID:10900517|PMID:11281458|PMID:12111638|PMID:15807819|PMID:15897456|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:23714322|PMID:24051672|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26747767|PMID:26992781|PMID:28002560|PMID:28492532|PMID:28838317|PMID:29127258|PMID:30653986|PMID:30718709|PMID:30825406|PMID:33037074|PMID:33668843|PMID:38028590|PMID:38243264|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0111007	X-linked cone-rod dystrophy 3		ISO	RGD:731992	D	RGD:7240710	20180130	OMIM			
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:0111007	X-linked cone-rod dystrophy 3		ISO	RGD:731992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY, X-LINKED, 3 | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 3	PMID:11281458|PMID:15897456|PMID:16199547|PMID:17525176|PMID:22183355|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:28838317|PMID:29854783|PMID:30653986|PMID:30718709|PMID:30825406|PMID:31456290|PMID:31651202|PMID:33668843|PMID:33749171|PMID:36284460|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:10376	amblyopia		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731992	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:30718709
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731992	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:30718709|PMID:34906470
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:11782	astigmatism		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:1324	lung cancer		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:13911	achromatopsia		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Achromatopsia	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:14264	benign neonatal seizures		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:1657	ventricular septal defect		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:1909	melanoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:11281458|PMID:16199547|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11281458|PMID:16199547|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28002560|PMID:28341476|PMID:28492532|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:5679	retinal disease		ISO	RGD:731992	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:5723	optic atrophy		ISO	RGD:731992	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:11281458|PMID:12111638|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25307992|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30576320|PMID:30825406|PMID:31456290|PMID:33668843|PMID:33749171|PMID:35457050|PMID:36284460|PMID:36909829|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28341476|PMID:28492532|PMID:32531858|PMID:37206923
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:630	genetic disease		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31131953
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:8501	fundus dystrophy		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10900517|PMID:11281458|PMID:12187427|PMID:12552565|PMID:17525176|PMID:17576681|PMID:19578023|PMID:22194652|PMID:23714322|PMID:24033266|PMID:24124559|PMID:25307992|PMID:25525159|PMID:25741868|PMID:26355662|PMID:26747767|PMID:26992781|PMID:27884173|PMID:28002560|PMID:28492532|PMID:30260717|PMID:30718709|PMID:30825406|PMID:33668843|PMID:35567543|PMID:38028590|PMID:9536098|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9000343	Vision Disorders		ISO	RGD:731992	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9002189	High Myopia		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:9662399|PMID:9662400
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11281458|PMID:12111638|PMID:17525176|PMID:22194652|PMID:24124559|PMID:26992781|PMID:28492532|PMID:9662399
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:731992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064863	CACNA1F	calcium voltage-gated channel subunit alpha1 F	gene	DOID:9650	pathologic nystagmus		ISO	RGD:731992	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Pendular nystagmus	PMID:10900517|PMID:11281458|PMID:17525176|PMID:22194652|PMID:24124559|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30718709|PMID:9662399|PMID:9662400
12064913	KLHL31	kelch like family member 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064913	KLHL31	kelch like family member 31	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1619800	D	RGD:9068941	20220825	MouseDO		OMIM:160150 | OMIM:255200 | OMIM:310400 | OMIM:614408 | OMIM:614807 | OMIM:615959	
12064913	KLHL31	kelch like family member 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064913	KLHL31	kelch like family member 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064924	KBTBD12	kelch repeat and BTB domain containing 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064924	KBTBD12	kelch repeat and BTB domain containing 12	gene	DOID:1324	lung cancer		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064924	KBTBD12	kelch repeat and BTB domain containing 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064924	KBTBD12	kelch repeat and BTB domain containing 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:1115	sarcoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064947	EVI5L	ecotropic viral integration site 5 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12064974	CNN2	calponin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12064974	CNN2	calponin 2	gene	DOID:1115	sarcoma		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12064974	CNN2	calponin 2	gene	DOID:1324	lung cancer		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12064974	CNN2	calponin 2	gene	DOID:3275	thymoma		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12064974	CNN2	calponin 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1350375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12064974	CNN2	calponin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350375	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12064974	CNN2	calponin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12064974	CNN2	calponin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12064974	CNN2	calponin 2	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1350375	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
12064974	CNN2	calponin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12064992	LPAR5	lysophosphatidic acid receptor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:10534	stomach cancer		ISO	RGD:1601741	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:1324	lung cancer		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:4501	orofaciodigital syndrome		ISO	RGD:1601741	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065015	TTC23	tetratricopeptide repeat domain 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065053	SPZ1	spermatogenic leucine zipper 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606768	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1322036	D	RGD:9068941	20240425	MouseDO			
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1322035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643074
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12065058	TERF2	telomeric repeat binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1354247	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Exstrophy-epispadias complex	PMID:25741868
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:10534	stomach cancer		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:3275	thymoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065075	EGFL6	EGF like domain multiple 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065091	DDC	dopa decarboxylase	gene	DOID:0050486	exanthem		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734177	D	RGD:9068941	20240229	RGD		DNA:SNPs,haplotypes::	PMID:17184203|REF_RGD_ID:401976473
12065091	DDC	dopa decarboxylase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734177	D	RGD:9068941	20240229	RGD		DNA:SNPs,haplotypes:introns:multiple (human)	PMID:16740595|REF_RGD_ID:401976474
12065091	DDC	dopa decarboxylase	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734177	D	RGD:9068941	20240229	RGD		DNA:SNPs,haplotypes:multiple	PMID:15879433|REF_RGD_ID:401976477
12065091	DDC	dopa decarboxylase	gene	DOID:0050771	pheochromocytoma		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22569243
12065091	DDC	dopa decarboxylase	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065091	DDC	dopa decarboxylase	gene	DOID:0080690	RASopathy		ISO	RGD:734177	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: rasopathies	PMID:18567514|PMID:24865461|PMID:25741868|PMID:28492532|PMID:28856607|PMID:31975548|PMID:32409695
12065091	DDC	dopa decarboxylase	gene	DOID:0080855	Parkinsonism		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16269145
12065091	DDC	dopa decarboxylase	gene	DOID:0090123	aromatic L-amino acid decarboxylase deficiency		ISO	RGD:734177	D	RGD:7240710	20180130	OMIM			
12065091	DDC	dopa decarboxylase	gene	DOID:0090123	aromatic L-amino acid decarboxylase deficiency		ISO	RGD:734177	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AADC DEFICIENCY | ClinVar Annotator: match by term: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY | ClinVar Annotator: match by term: Deficiency of aromatic-L-amino-acid decarboxylase | ClinVar Annotator: match by term: aromatic L-amino acid decarboxylase deficiency	PMID:15079002|PMID:16199547|PMID:17240182|PMID:17533144|PMID:17576681|PMID:18567514|PMID:20505134|PMID:21541720|PMID:22143761|PMID:23321058|PMID:23430870|PMID:24037885|PMID:24788355|PMID:24865461|PMID:25001633|PMID:25597765|PMID:25741868|PMID:26994895|PMID:27147232|PMID:27243974|PMID:28492532|PMID:28556607|PMID:28856607|PMID:28924877|PMID:28973165|PMID:29356298|PMID:29851841|PMID:30144970|PMID:30260058|PMID:30689738|PMID:30952622|PMID:31104889|PMID:31130284|PMID:31607746|PMID:31703131|PMID:31849064|PMID:31918669|PMID:31953134|PMID:31975548|PMID:32111562|PMID:32369189|PMID:32409695|PMID:33734312|PMID:33808712|PMID:33996177|PMID:34253733|PMID:34763085|PMID:35531120|PMID:36054588|PMID:36427457|PMID:36727005|PMID:36928758|PMID:36964972|PMID:37348148|PMID:37453860|PMID:9536098|PMID:9789536
12065091	DDC	dopa decarboxylase	gene	DOID:1059	intellectual disability		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:10762	portal hypertension		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:superior mesenteric artery (rat)	PMID:18457899|REF_RGD_ID:5129683
12065091	DDC	dopa decarboxylase	gene	DOID:11782	astigmatism		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:11830	myopia		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:11836	clubfoot		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		protein:decreased activity:renal cortex (rat)	PMID:16204272|REF_RGD_ID:5129145
12065091	DDC	dopa decarboxylase	gene	DOID:1324	lung cancer		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065091	DDC	dopa decarboxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:2494	D	RGD:9068941	20200609	RGD			PMID:12703659|REF_RGD_ID:4139893
12065091	DDC	dopa decarboxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		protein:altered expression:arcuate nucleus ((rat)	PMID:15935614|REF_RGD_ID:5129231
12065091	DDC	dopa decarboxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11445284|PMID:2969953
12065091	DDC	dopa decarboxylase	gene	DOID:14330	Parkinson's disease		ISO	RGD:734177	D	RGD:9068941	20200609	RGD		human gene in a rat model	PMID:9853519|REF_RGD_ID:5129121
12065091	DDC	dopa decarboxylase	gene	DOID:150	disease of mental health		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2969953
12065091	DDC	dopa decarboxylase	gene	DOID:1826	epilepsy		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:1969	cerebral palsy		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:2018	hyperinsulinism		ISO	RGD:734177	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic beta cell (human)	PMID:16403819|REF_RGD_ID:5129140
12065091	DDC	dopa decarboxylase	gene	DOID:3312	bipolar disorder		ISO	RGD:734177	D	RGD:9068941	20200609	RGD		DNA:deletions:5' utr, intron:g.-601delG, g.722_725delGAGA (human)	PMID:12555230|REF_RGD_ID:1358586
12065091	DDC	dopa decarboxylase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12065091	DDC	dopa decarboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:734177	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065091	DDC	dopa decarboxylase	gene	DOID:543	dystonia		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065091	DDC	dopa decarboxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12065091	DDC	dopa decarboxylase	gene	DOID:630	genetic disease		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15079002|PMID:17533144|PMID:24788355|PMID:24865461|PMID:25741868|PMID:28492532|PMID:32111562|PMID:36427457|PMID:37286773
12065091	DDC	dopa decarboxylase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:734177	D	RGD:9068941	20200609	RGD		AADC deficiency, OMIM:608643; DNA:point mutations:cds:multiple (human)	PMID:20505134|REF_RGD_ID:5128849
12065091	DDC	dopa decarboxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12065091	DDC	dopa decarboxylase	gene	DOID:783	end stage renal disease		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		protein:altered activity:renal cortex (rat)	PMID:19167406|REF_RGD_ID:5128880
12065091	DDC	dopa decarboxylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:superior mesenteric artery (rat)	PMID:18457899|REF_RGD_ID:5129683
12065091	DDC	dopa decarboxylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12065091	DDC	dopa decarboxylase	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:734177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19522546
12065091	DDC	dopa decarboxylase	gene	DOID:9003507	Premature Birth		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9005616	Micrognathism		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189
12065091	DDC	dopa decarboxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25001633|PMID:25741868|PMID:28492532|PMID:31607746|PMID:32369189|PMID:36427457
12065091	DDC	dopa decarboxylase	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:2494	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease; protein:decreased expression:striatum (rat)	PMID:20232137|REF_RGD_ID:5128860
12065124	ZPBP	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:7240710	20220406	OMIM			
12065124	ZPBP	zona pellucida binding protein	gene	DOID:0070565	spermatogenic failure 66		ISO	RGD:1351452	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 66 | ClinVar Annotator: match by term: ZPBP-related condition | ClinVar Annotator: match by term: spermatogenic failure 66	PMID:25741868
12065124	ZPBP	zona pellucida binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065124	ZPBP	zona pellucida binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12065124	ZPBP	zona pellucida binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12065124	ZPBP	zona pellucida binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12065147	NECAB3	N-terminal EF-hand calcium binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:10534	stomach cancer		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:3275	thymoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:4362	cervical cancer		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:5041	esophageal cancer		ISO	RGD:1315747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065174	VPS26C	VPS26 endosomal protein sorting factor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065186	UQCC4	ubiquinol-cytochrome c reductase complex assembly factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065192	THAP2	THAP domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065192	THAP2	THAP domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065192	THAP2	THAP domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065192	THAP2	THAP domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065192	THAP2	THAP domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065192	THAP2	THAP domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:0060058	lymphoma		ISO	RGD:1316574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:10534	stomach cancer		ISO	RGD:1316574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:1115	sarcoma		ISO	RGD:1316574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065207	MRPS21	mitochondrial ribosomal protein S21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:3275	thymoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:630	genetic disease		ISO	RGD:1322805	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:630	genetic disease		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency		ISO	RGD:1322805	D	RGD:7240710	20180130	OMIM			
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:9005223	Ribose 5-Phosphate Isomerase Deficiency		ISO	RGD:1322805	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of ribose-5-phosphate isomerase | ClinVar Annotator: match by term: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY | ClinVar Annotator: match by term: RPIA-related condition	PMID:25741868|PMID:28492532|PMID:30088433
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065220	RPIA	ribose 5-phosphate isomerase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065234	MIR204	microRNA mir-204	gene	DOID:10591	pre-eclampsia		ISO	RGD:1346904	D	RGD:9068941	20230128	RGD		miRNA:increased expression:blood serum (human)	PMID:25017274|REF_RGD_ID:155882496
12065234	MIR204	microRNA mir-204	gene	DOID:2043	hepatitis B		ISO	RGD:1346904	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12065234	MIR204	microRNA mir-204	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1346904	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26224795
12065234	MIR204	microRNA mir-204	gene	DOID:9001283	RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT		ISO	RGD:1346904	D	RGD:7240710	20181003	OMIM			
12065234	MIR204	microRNA mir-204	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1346904	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: therapeutic	PMID:36177783
12065234	MIR204	microRNA mir-204	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346904	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12065304	PXT1	peroxisomal testis enriched protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065304	PXT1	peroxisomal testis enriched protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:10534	stomach cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:1324	lung cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:4362	cervical cancer		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065314	RPL7A	ribosomal protein L7a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065333	TMEM165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:7240710	20180130	OMIM			
12065333	TMEM165	transmembrane protein 165	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1601750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk | ClinVar Annotator: match by term: TMEM165-CDG | ClinVar Annotator: match by term: TMEM165-related condition	PMID:25741868|PMID:28492532
12065333	TMEM165	transmembrane protein 165	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1601750	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12065333	TMEM165	transmembrane protein 165	gene	DOID:10534	stomach cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12065333	TMEM165	transmembrane protein 165	gene	DOID:1909	melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065333	TMEM165	transmembrane protein 165	gene	DOID:3070	high grade glioma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
12065333	TMEM165	transmembrane protein 165	gene	DOID:4362	cervical cancer		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12065333	TMEM165	transmembrane protein 165	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065333	TMEM165	transmembrane protein 165	gene	DOID:6039	uveal melanoma		ISO	RGD:1601750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12065333	TMEM165	transmembrane protein 165	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:0060058	lymphoma		ISO	RGD:1319350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:1115	sarcoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:1324	lung cancer		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:1909	melanoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319350	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065343	AGO3	argonaute RISC catalytic component 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:4362	cervical cancer		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065376	PRPF38A	pre-mRNA processing factor 38A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0060058	lymphoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0111857	primary ciliary dyskinesia 45		ISO	RGD:1347757	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45	PMID:25741868
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:0111910	spermatogenic failure		ISO	RGD:1347757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: spermatogenic failure	PMID:25741868
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:10534	stomach cancer		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:1115	sarcoma		ISO	RGD:1347757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1551162	D	RGD:9068941	20200609	RGD			PMID:24282028|REF_RGD_ID:13432158
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:3275	thymoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:4362	cervical cancer		ISO	RGD:1347757	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1347757	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve stenosis	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065390	DNAH6	dynein axonemal heavy chain 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1344978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0080000	muscular disease		ISO	RGD:1344978	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19628585
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1344978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita distal type II with craniofacial abnormalities | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, distal, type 2B	PMID:17194691|PMID:23401156|PMID:25340332|PMID:25741868|PMID:26526134|PMID:27790376|PMID:28492532
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0111600	distal arthrogryposis type 2B1		ISO	RGD:1344978	D	RGD:7240710	20180130	OMIM			
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:0111600	distal arthrogryposis type 2B1		ISO	RGD:1344978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B1 | ClinVar Annotator: match by term: Distal arthrogryposis type 2B1 | ClinVar Annotator: match by term: TNNI2-related condition | ClinVar Annotator: match by term: distal arthrogryposis type 2B1	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:23401156|PMID:25741868|PMID:28492532|PMID:33820833
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:10534	stomach cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:1059	intellectual disability		ISO	RGD:1344978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:11836	clubfoot		ISO	RGD:1344978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:1324	lung cancer		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:630	genetic disease		ISO	RGD:1344978	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:9007573	Flatfoot		ISO	RGD:1344978	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:12592607|PMID:1710100|PMID:17101001|PMID:17194691|PMID:25741868
12065469	TNNI2	troponin I2, fast skeletal type	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:1115	sarcoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:1909	melanoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:3070	high grade glioma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065481	MVB12A	multivesicular body subunit 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:0070056	autosomal dominant intellectual developmental disorder 26		ISO	RGD:1323830	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder due to AUTS2 deficiency	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323830	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12065494	MYCBP2	MYC binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323830	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1323830	D	RGD:9068941	20241226	RGD			PMID:26408707|REF_RGD_ID:596936225
12065494	MYCBP2	MYC binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:33001864|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1323830	D	RGD:9068941	20250109	RGD			PMID:30318507|REF_RGD_ID:596938165
12065494	MYCBP2	MYC binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1323830	D	RGD:9068941	20241226	RGD			PMID:36582246|REF_RGD_ID:596936224
12065494	MYCBP2	MYC binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1323830	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1323830	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323830	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:36200388
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323830	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065494	MYCBP2	MYC binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:25741868|PMID:26991897|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:0080600	COVID-19		ISO	RGD:737353	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12065604	MME	membrane metalloendopeptidase	gene	DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T		ISO	RGD:737353	D	RGD:7240710	20190315	OMIM			
12065604	MME	membrane metalloendopeptidase	gene	DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T		ISO	RGD:737353	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2T | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2T | ClinVar Annotator: match by term: MME-related autosomal dominant Charcot Marie Tooth disease type 2 | ClinVar Annotator: match by term: MME-related condition	PMID:15464186|PMID:16199547|PMID:20692264|PMID:24033266|PMID:25565308|PMID:25741868|PMID:26991897|PMID:27249223|PMID:27588448|PMID:28492532|PMID:30415211|PMID:33144514|PMID:34426522|PMID:36517691|PMID:37273706|PMID:38860315|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:0111745	cerebellar ataxia type 43		ISO	RGD:737353	D	RGD:7240710	20190315	OMIM			
12065604	MME	membrane metalloendopeptidase	gene	DOID:0111745	cerebellar ataxia type 43		ISO	RGD:737353	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia 43	PMID:20692264|PMID:25741868|PMID:26991897|PMID:27249223|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:1059	intellectual disability		ISO	RGD:737353	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12065604	MME	membrane metalloendopeptidase	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:737353	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:35212467
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734285	D	RGD:9068941	20200609	RGD			PMID:12074840|PMID:25991605|REF_RGD_ID:13801010|REF_RGD_ID:13801022
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734285	D	RGD:9068941	20220825	MouseDO		OMIM:104300 | OMIM:502500 | OMIM:604154 | OMIM:608907	
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737353	D	RGD:9068941	20200609	RGD			PMID:25884928|REF_RGD_ID:13801034
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs6797911 (human)	PMID:22493749|REF_RGD_ID:13801011
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter, introns:-204G>C, IVS17-294C>T, IVS22+36C>A (human)	PMID:15860464|REF_RGD_ID:13801021
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:rs1836915, rs6776185, rs6801319 (human)	PMID:17928142|REF_RGD_ID:13801023
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs, repeat:multiple:multiple	PMID:17928142|REF_RGD_ID:13801023
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs, repeats, deletion:promoter:multiple	PMID:12527400|REF_RGD_ID:13801020
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22493749|REF_RGD_ID:13801011
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' utr, 3' utr:rs3736187, rs989692, rs701109 (human)	PMID:21537452|REF_RGD_ID:13801012
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:repeats	PMID:11849775|REF_RGD_ID:1600813
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:rs6665 (human)	PMID:28294061|REF_RGD_ID:13801009
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:737353	D	RGD:9068941	20200609	RGD			PMID:19606063|REF_RGD_ID:13801019
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:20141738|REF_RGD_ID:13801024
12065604	MME	membrane metalloendopeptidase	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:734285	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:25416980|REF_RGD_ID:13801033
12065604	MME	membrane metalloendopeptidase	gene	DOID:1074	kidney failure		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10485324
12065604	MME	membrane metalloendopeptidase	gene	DOID:10763	hypertension	treatment	ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:12011651|REF_RGD_ID:13801039
12065604	MME	membrane metalloendopeptidase	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:737353	D	RGD:9068941	20260521	RGD		antenatal membranous glomerulonephritis	PMID:15464186|REF_RGD_ID:1600817
12065604	MME	membrane metalloendopeptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065604	MME	membrane metalloendopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:11720	distal myopathy		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:11830	myopia		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:13250	diarrhea	treatment	ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:3481337|REF_RGD_ID:13801042
12065604	MME	membrane metalloendopeptidase	gene	DOID:1389	polyneuropathy		ISO	RGD:737353	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:1596	depressive disorder		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:1612	breast cancer		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:1909	melanoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065604	MME	membrane metalloendopeptidase	gene	DOID:2030	anxiety disorder		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:3275	thymoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065604	MME	membrane metalloendopeptidase	gene	DOID:3488	cellulitis		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065604	MME	membrane metalloendopeptidase	gene	DOID:4362	cervical cancer		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065604	MME	membrane metalloendopeptidase	gene	DOID:480	movement disease		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065604	MME	membrane metalloendopeptidase	gene	DOID:576	proteinuria		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:6000	congestive heart failure		ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:12383878|REF_RGD_ID:13801043
12065604	MME	membrane metalloendopeptidase	gene	DOID:6039	uveal melanoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:630	genetic disease		ISO	RGD:737353	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:630	genetic disease		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532|PMID:33144514
12065604	MME	membrane metalloendopeptidase	gene	DOID:824	periodontitis		ISO	RGD:737353	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingiva	PMID:28285126|REF_RGD_ID:13801025
12065604	MME	membrane metalloendopeptidase	gene	DOID:870	neuropathy		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16199547|PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9000310	Lung Injury		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21114838
12065604	MME	membrane metalloendopeptidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16085334
12065604	MME	membrane metalloendopeptidase	gene	DOID:9001733	Tinnitus		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:8201016|REF_RGD_ID:13801045
12065604	MME	membrane metalloendopeptidase	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12065604	MME	membrane metalloendopeptidase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17173048
12065604	MME	membrane metalloendopeptidase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:16199547|PMID:25741868|PMID:26991897|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9002669	Hypoxia		ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:11557598|REF_RGD_ID:13801041
12065604	MME	membrane metalloendopeptidase	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:737353	D	RGD:9068941	20200609	RGD			PMID:11557598|REF_RGD_ID:13801041
12065604	MME	membrane metalloendopeptidase	gene	DOID:9003242	Paresthesia		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tubulointerstitial fibrosis	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9004866	Ataxia		ISO	RGD:737353	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9005930	Endotoxemia	severity	ISO	RGD:3098	D	RGD:9068941	20200609	RGD			PMID:11078421|REF_RGD_ID:13801040
12065604	MME	membrane metalloendopeptidase	gene	DOID:9006743	Spasm		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065604	MME	membrane metalloendopeptidase	gene	DOID:9007073	Cough	treatment	ISO	RGD:737353	D	RGD:9068941	20260514	RGD		associated with essential hypertension;DNA:SNPs, haplotypes: :rs6665, rs1836915, rs2016848	PMID:21052031|REF_RGD_ID:4891026
12065604	MME	membrane metalloendopeptidase	gene	DOID:9007661	Dwarfism		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9008	psoriatic arthritis		ISO	RGD:737353	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: psoriatic arthritis	PMID:25741868
12065604	MME	membrane metalloendopeptidase	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12928894
12065604	MME	membrane metalloendopeptidase	gene	DOID:9008520	Chronic Pain		ISO	RGD:737353	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23063927
12065604	MME	membrane metalloendopeptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065604	MME	membrane metalloendopeptidase	gene	DOID:913	atrophic muscular disease		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:25741868|PMID:27588448|PMID:28492532|PMID:33144514|PMID:34426522|PMID:36517691|PMID:39251209
12065604	MME	membrane metalloendopeptidase	gene	DOID:9246	cerebral amyloid angiopathy	severity	ISO	RGD:737353	D	RGD:9068941	20200609	RGD			PMID:21382117|REF_RGD_ID:13801026
12065604	MME	membrane metalloendopeptidase	gene	DOID:9246	cerebral amyloid angiopathy	severity	ISO	RGD:737353	D	RGD:9068941	20200609	RGD		associated with Alzheimer Disease;protein:decreased expression:frontal lobe cortex (human)	PMID:17021406|REF_RGD_ID:1600811
12065604	MME	membrane metalloendopeptidase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:737353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26991897|PMID:27588448|PMID:28492532
12065604	MME	membrane metalloendopeptidase	gene	DOID:9743	diabetic neuropathy		ISO	RGD:737353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20148083
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:1115	sarcoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:1324	lung cancer		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:3275	thymoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352137	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:8778	Crohn's disease		ISO	RGD:1352137	D	RGD:9068941	20200609	RGD			PMID:15758620|REF_RGD_ID:1580079
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065638	BPI	bactericidal permeability increasing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065662	CFI	complement factor I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065662	CFI	complement factor I	gene	DOID:0050419	complement factor I deficiency		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COMPLEMENT FACTOR I DEFICIENCY | ClinVar Annotator: match by term: Complement factor I deficiency	PMID:15917334|PMID:16621965|PMID:17576681|PMID:17914026|PMID:18374984|PMID:18825487|PMID:19065647|PMID:19877009|PMID:20016463|PMID:20106822|PMID:22710145|PMID:23314101|PMID:23431077|PMID:23787556|PMID:24034049|PMID:24036952|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:26826462|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28492532|PMID:29566171|PMID:29888403|PMID:30046676|PMID:31049720|PMID:31249236|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33712733|PMID:34748552|PMID:35069568|PMID:35619721|PMID:37369098|PMID:39238643|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0050419	complement factor I deficiency	susceptibility	ISO	RGD:736809	D	RGD:7240710	20260722	OMIM			
12065662	CFI	complement factor I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31249236|PMID:31517156|PMID:32510551|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25741909|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36845135|PMID:37105825|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25352734|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35253925|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36793547|PMID:36845135|PMID:37105825|PMID:37369098|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17599974|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29148534|PMID:29292855|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35253925|PMID:35526386|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36793547|PMID:36845135|PMID:37105825|PMID:37369098|PMID:37466676|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17106690|PMID:17576681|PMID:17597211|PMID:17599974|PMID:17914026|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22410797|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:23847193|PMID:24029428|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24142231|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:25986072|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:28939980|PMID:29148534|PMID:29292855|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35253925|PMID:35526386|PMID:35531992|PMID:35619721|PMID:35914225|PMID:36643920|PMID:36793547|PMID:36845135|PMID:37105825|PMID:37369098|PMID:37466676|PMID:37954579|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: THBD-related condition	PMID:15173250|PMID:15917334|PMID:16199547|PMID:16621965|PMID:17084897|PMID:17106690|PMID:17576681|PMID:17597211|PMID:17599974|PMID:17914026|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21445332|PMID:22410797|PMID:22710145|PMID:23307876|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:23847193|PMID:24029428|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24142231|PMID:24161037|PMID:25037630|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25796589|PMID:25899302|PMID:25986072|PMID:26826462|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:28939980|PMID:29148534|PMID:29292855|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30225434|PMID:30541482|PMID:30851964|PMID:30890598|PMID:30916388|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:31517156|PMID:31900968|PMID:32098865|PMID:32447592|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33238263|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35253925|PMID:35526386|PMID:35531992|PMID:35619721|PMID:35720299|PMID:35914225|PMID:36643920|PMID:36793547|PMID:36845135|PMID:37105825|PMID:37369098|PMID:37466676|PMID:37954579|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 3	PMID:15917334|PMID:16621965|PMID:17576681|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19877009|PMID:20016463|PMID:20106822|PMID:22710145|PMID:23431077|PMID:24036952|PMID:25741868|PMID:25788521|PMID:26826462|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28492532|PMID:28750931|PMID:29292855|PMID:29566171|PMID:29888403|PMID:30046676|PMID:30890598|PMID:31231365|PMID:31440263|PMID:31900968|PMID:32098865|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34169201|PMID:34748552|PMID:35069568|PMID:35619721|PMID:37369098|PMID:37466676|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0080301	atypical hemolytic-uremic syndrome	susceptibility	ISO	RGD:736809	D	RGD:7240710	20260722	OMIM			
12065662	CFI	complement factor I	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	PMID:19877009|PMID:20016463|PMID:23431077|PMID:23787556|PMID:24034049|PMID:24036952|PMID:25741868|PMID:28492532|PMID:31249236|PMID:35069568
12065662	CFI	complement factor I	gene	DOID:0110025	age related macular degeneration 13		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 13 | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17576681|PMID:17914026|PMID:18374984|PMID:18825487|PMID:19065647|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23314101|PMID:23431077|PMID:23787556|PMID:24034049|PMID:24036952|PMID:24799305|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:26826462|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28492532|PMID:29566171|PMID:29888403|PMID:30046676|PMID:31049720|PMID:31249236|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33712733|PMID:34748552|PMID:35069568|PMID:35619721|PMID:37363824|PMID:37369098|PMID:39238643|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:0110025	age related macular degeneration 13	susceptibility	ISO	RGD:736809	D	RGD:7240710	20260722	OMIM			
12065662	CFI	complement factor I	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:736809	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:18825487|PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:10534	stomach cancer		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065662	CFI	complement factor I	gene	DOID:1074	kidney failure		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
12065662	CFI	complement factor I	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:736809	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs10033900, rs13117504 (human)	PMID:23900096|REF_RGD_ID:8662315
12065662	CFI	complement factor I	gene	DOID:11664	nephrosclerosis		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrosclerosis	
12065662	CFI	complement factor I	gene	DOID:1184	nephrotic syndrome	disease_progression	ISO	RGD:736809	D	RGD:9068941	20210319	RGD			PMID:9745775|REF_RGD_ID:108019049
12065662	CFI	complement factor I	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	
12065662	CFI	complement factor I	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:736809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:18825487|PMID:24036952|PMID:25741868|PMID:28492532|PMID:32510551|PMID:33712733|PMID:35619721|PMID:39238643
12065662	CFI	complement factor I	gene	DOID:1588	thrombocytopenia		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:1909	melanoma		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:18374984|PMID:19065647|PMID:19861685|PMID:20016463|PMID:20106822|PMID:20301541|PMID:22710145|PMID:23421077|PMID:23431077|PMID:24033266|PMID:24036952|PMID:25741868|PMID:25988862|PMID:26826462|PMID:27091480|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29566171|PMID:29888403|PMID:29940891|PMID:31049720|PMID:31231365|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:34153144|PMID:34169201|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:25352734|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25988862|PMID:26691988|PMID:26767664|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29392637|PMID:29410599|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35069568|PMID:35531992|PMID:35619721|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17106690|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:18557729|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22410797|PMID:22710145|PMID:23421077|PMID:23431077|PMID:23685748|PMID:24033266|PMID:24036952|PMID:24142231|PMID:25741868|PMID:25788521|PMID:25899302|PMID:25988862|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:31049720|PMID:31231365|PMID:31440263|PMID:32098865|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:35069568|PMID:35253925|PMID:35526386|PMID:35531992|PMID:35619721|PMID:36643920|PMID:36793547|PMID:37954579|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17018561|PMID:17084897|PMID:17106690|PMID:17576681|PMID:17597211|PMID:17914026|PMID:18374984|PMID:18557729|PMID:18825487|PMID:19065647|PMID:19861685|PMID:19877009|PMID:20016463|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20513133|PMID:22410797|PMID:22710145|PMID:23314101|PMID:23421077|PMID:23431077|PMID:23685748|PMID:23787556|PMID:23847193|PMID:24029428|PMID:24033266|PMID:24034049|PMID:24036952|PMID:24142231|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:25899302|PMID:25986072|PMID:25988862|PMID:26826462|PMID:27091480|PMID:27268256|PMID:27939104|PMID:28187980|PMID:28282489|PMID:28455885|PMID:28492532|PMID:28750931|PMID:28939980|PMID:29500241|PMID:29566171|PMID:29888403|PMID:29940891|PMID:30046676|PMID:30890598|PMID:30982675|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:32098865|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33712733|PMID:33841858|PMID:34153144|PMID:34169201|PMID:34272986|PMID:34748552|PMID:35069568|PMID:35253925|PMID:35526386|PMID:35531992|PMID:35619721|PMID:36643920|PMID:36793547|PMID:37954579|PMID:849647|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency	PMID:15917334|PMID:16199547|PMID:16621965|PMID:17576681|PMID:17914026|PMID:18374984|PMID:18825487|PMID:19065647|PMID:19877009|PMID:20016463|PMID:20106822|PMID:22710145|PMID:23314101|PMID:23431077|PMID:23787556|PMID:24034049|PMID:24036952|PMID:25135378|PMID:25741868|PMID:25758434|PMID:25788521|PMID:26826462|PMID:27268256|PMID:28187980|PMID:28282489|PMID:28492532|PMID:29566171|PMID:29888403|PMID:30046676|PMID:31049720|PMID:31231365|PMID:31249236|PMID:31440263|PMID:32510551|PMID:32853637|PMID:32908800|PMID:33712733|PMID:34748552|PMID:35069568|PMID:35619721|PMID:37369098|PMID:39238643|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:18374984|PMID:22710145|PMID:24036952|PMID:25741868|PMID:25788521|PMID:26826462|PMID:28492532|PMID:29888403|PMID:32510551|PMID:32853637|PMID:32908800|PMID:35619721|PMID:8613545|PMID:9536098
12065662	CFI	complement factor I	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesangiocapillary glomerulonephritis	
12065662	CFI	complement factor I	gene	DOID:2921	glomerulonephritis		ISO	RGD:736809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:24036952|PMID:25741868|PMID:28492532|PMID:32510551|PMID:33712733|PMID:35619721|PMID:39238643
12065662	CFI	complement factor I	gene	DOID:3021	acute kidney failure		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	
12065662	CFI	complement factor I	gene	DOID:4448	macular degeneration		ISO	RGD:736809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685748|PMID:24036952|PMID:26691988
12065662	CFI	complement factor I	gene	DOID:4448	macular degeneration		ISO	RGD:736809	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G119R (human)	PMID:23685748|REF_RGD_ID:8662313
12065662	CFI	complement factor I	gene	DOID:4448	macular degeneration	disease_progression	ISO	RGD:736809	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.110659067T>C (rs10033900) (human)	PMID:22815349|REF_RGD_ID:8662321
12065662	CFI	complement factor I	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:736809	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:c.345G>A (rs2285714) (human)	PMID:23900096|REF_RGD_ID:8662315
12065662	CFI	complement factor I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065662	CFI	complement factor I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12065662	CFI	complement factor I	gene	DOID:5041	esophageal cancer		ISO	RGD:736809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16621965|PMID:24033266|PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:5041	esophageal cancer		ISO	RGD:736809	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065662	CFI	complement factor I	gene	DOID:557	kidney disease		ISO	RGD:736809	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:583	hemolytic anemia		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia | ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:630	genetic disease		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18374984|PMID:25741868|PMID:28492532|PMID:29888403|PMID:32510551|PMID:35619721|PMID:38344720
12065662	CFI	complement factor I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065662	CFI	complement factor I	gene	DOID:783	end stage renal disease		ISO	RGD:736809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:24036952|PMID:25741868|PMID:28492532|PMID:32510551|PMID:33712733|PMID:35619721|PMID:39238643
12065662	CFI	complement factor I	gene	DOID:784	chronic kidney disease		ISO	RGD:736809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24036952|PMID:25741868|PMID:28492532|PMID:32510551|PMID:33712733|PMID:35619721|PMID:39238643
12065662	CFI	complement factor I	gene	DOID:8893	psoriasis	severity	ISO	RGD:736809	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:2973157|REF_RGD_ID:8662318
12065662	CFI	complement factor I	gene	DOID:9000104	Glomerular Diseases		ISO	RGD:736809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glomerulopathy	PMID:24036952|PMID:25741868|PMID:28492532|PMID:32510551|PMID:33712733|PMID:35619721|PMID:39238643
12065662	CFI	complement factor I	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombotic microangiopathy	PMID:25741868|PMID:28492532|PMID:29888403|PMID:32510551
12065662	CFI	complement factor I	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:620429	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spiral organ of cochlea, sensory epithelium	PMID:23727008|REF_RGD_ID:8662317
12065662	CFI	complement factor I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065662	CFI	complement factor I	gene	DOID:9008867	C3 Glomerulopathy 3		ISO	RGD:736809	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: C3 glomerulonephritis	PMID:22710145|PMID:23431077|PMID:24036952|PMID:25741868|PMID:28492532
12065662	CFI	complement factor I	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:736809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
12065682	FAM241B	family with sequence similarity 241 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065682	FAM241B	family with sequence similarity 241 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065682	FAM241B	family with sequence similarity 241 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12065682	FAM241B	family with sequence similarity 241 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313704	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065689	GOLGA5	golgin A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065689	GOLGA5	golgin A5	gene	DOID:0060058	lymphoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12065689	GOLGA5	golgin A5	gene	DOID:10534	stomach cancer		ISO	RGD:1317779	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065689	GOLGA5	golgin A5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065689	GOLGA5	golgin A5	gene	DOID:1909	melanoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12065689	GOLGA5	golgin A5	gene	DOID:3070	high grade glioma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12065689	GOLGA5	golgin A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065689	GOLGA5	golgin A5	gene	DOID:4362	cervical cancer		ISO	RGD:1317779	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065689	GOLGA5	golgin A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317779	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065689	GOLGA5	golgin A5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065689	GOLGA5	golgin A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065689	GOLGA5	golgin A5	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1317779	D	RGD:9068941	20200609	RGD		reciprocal translocation resulting in fusion of GOLGA5 with the RET oncogene found in radioactivity-induced thyroid carcinomas	PMID:9443391|REF_RGD_ID:1599259
12065689	GOLGA5	golgin A5	gene	DOID:9256	colorectal cancer		ISO	RGD:1317779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12065706	HTR5A	5-hydroxytryptamine receptor 5A	gene	DOID:10283	prostate cancer		ISO	RGD:735325	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12065706	HTR5A	5-hydroxytryptamine receptor 5A	gene	DOID:12849	autistic disorder		ISO	RGD:735325	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17203304
12065706	HTR5A	5-hydroxytryptamine receptor 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065706	HTR5A	5-hydroxytryptamine receptor 5A	gene	DOID:9428	intracranial hypertension		ISO	RGD:735325	D	RGD:9068941	20230727	RGD		mRNA:increased expression:neocortex,Pyramidal cells (human)	PMID:27487831|REF_RGD_ID:329969876
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736189	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:25741868|PMID:28492532
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:2340	craniosynostosis		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:31837199
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736189	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29379198
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:403	mouth disease		ISO	RGD:736189	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:4362	cervical cancer		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:630	genetic disease		ISO	RGD:736189	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736189	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:8488	polyhydramnios		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:28492532
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:9000725	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies		ISO	RGD:736189	D	RGD:7240710	20180130	OMIM			
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:9000725	Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies		ISO	RGD:736189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP26B1-related condition | ClinVar Annotator: match by term: Lethal occipital encephalocele-skeletal dysplasia syndrome | ClinVar Annotator: match by term: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES | ClinVar Annotator: match by term: lethal occipital encephalocele-skeletal dysplasia syndrome	PMID:25741868|PMID:28492532
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:631379	D	RGD:9068941	20250828	RGD			PMID:26126619|REF_RGD_ID:626167420
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:930	orbital disease		ISO	RGD:736189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
12065712	CYP26B1	cytochrome P450 family 26 subfamily B member 1	gene	DOID:9970	obesity		ISO	RGD:736189	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065727	RCE1	Ras converting CAAX endopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1342687	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:34645488
12065746	EHBP1L1	EH domain binding protein 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:1324	lung cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:630	genetic disease		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:9000505	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies		ISO	RGD:1602119	D	RGD:7240710	20190315	OMIM			
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:9000505	Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies		ISO	RGD:1602119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SEIZURES, AND DISTAL LIMB ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies | ClinVar Annotator: match by term: OTUD6B-related condition	PMID:25741868|PMID:28343629|PMID:28492532|PMID:31147255|PMID:32181568|PMID:32924626
12065782	OTUD6B	OTU deubiquitinase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:2626	D	RGD:9068941	20240427	RGD		mRNA:decreased expression:hippocampus	PMID:29330744|REF_RGD_ID:405650592
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		ISO	RGD:2626	D	RGD:9068941	20240328	RGD			PMID:17360123|REF_RGD_ID:405100958
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:granular insular cortex, paraventricular nucleus of thalamus, prefrontal cortex	PMID:14574439|REF_RGD_ID:405101697
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2626	D	RGD:9068941	20240411	RGD			PMID:17723286|PMID:29926762|REF_RGD_ID:405100722|REF_RGD_ID:405295497
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:brain	PMID:9789813|REF_RGD_ID:405255653
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:2626	D	RGD:9068941	20240411	RGD		protein:increased expression:caudate-putamen	PMID:22048468|REF_RGD_ID:405295496
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:2626	D	RGD:9068941	20240328	RGD			PMID:15026155|REF_RGD_ID:405100963
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:735729	D	RGD:9068941	20240404	RGD			PMID:26169054|REF_RGD_ID:405101700
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050860	colorectal adenoma		ISO	RGD:735729	D	RGD:9068941	20200609	RGD			PMID:8264230|REF_RGD_ID:13210753
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:735729	D	RGD:9068941	20200609	RGD			PMID:8264230|REF_RGD_ID:13210753
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:735729	D	RGD:9068941	20220825	RGD		mRNA,protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15196791|PMID:15196794|PMID:18485423
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10112	sleeping sickness		ISO	RGD:10596	D	RGD:9068941	20240502	RGD			PMID:25595977|REF_RGD_ID:405650615
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10112	sleeping sickness		ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:25595977|REF_RGD_ID:405650615
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10763	hypertension		ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:16696897|REF_RGD_ID:7242185
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10763	hypertension		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12044476|PMID:24039778
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:24496494|PMID:37637418|REF_RGD_ID:405650590|REF_RGD_ID:405650591
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10892	hypospadias		ISO	RGD:2626	D	RGD:9068941	20240502	RGD		protein:increased expression:genital tubercle	PMID:33618583|REF_RGD_ID:405650613
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:10892	hypospadias		ISO	RGD:735729	D	RGD:9068941	20240502	RGD		mRNA, protein:increased expression:prepuce	PMID:33618583|REF_RGD_ID:405650613
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11371	functional diarrhea	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:31368281|REF_RGD_ID:405650608
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11832	visual epilepsy		ISO	RGD:735729	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:11955713|PMID:12946577|PMID:8923670|PMID:9630518
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:11870	Pick's disease		ISO	RGD:735729	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex	PMID:17548164|REF_RGD_ID:10047402
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:10596	D	RGD:9068941	20200609	RGD			PMID:15632024|REF_RGD_ID:7242276
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:13533	osteopetrosis		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:25741868
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:10596	D	RGD:9068941	20240404	RGD		protein:increased expression:parvocellular oculomotor nucleus	PMID:11164784|REF_RGD_ID:405255652
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:brain	PMID:14741756|REF_RGD_ID:405255650
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2626	D	RGD:9068941	20240411	RGD			PMID:29210146|REF_RGD_ID:405295495
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:34431619|REF_RGD_ID:405650599
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1824	status epilepticus		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16696126|PMID:18587450|PMID:18988310|PMID:7984056
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1826	epilepsy		ISO	RGD:2626	D	RGD:9068941	20240502	RGD		protein:increased expression:cerebellum	PMID:25466986|REF_RGD_ID:405650614
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1826	epilepsy		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15973680
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1826	epilepsy	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:29478811|PMID:37598353|REF_RGD_ID:405650621|REF_RGD_ID:405650623
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:735729	D	RGD:9068941	20200609	RGD			PMID:21975339|REF_RGD_ID:13210759
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16488545
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2055	post-traumatic stress disorder	disease_progression	ISO	RGD:10596	D	RGD:9068941	20240404	RGD			PMID:27421892|REF_RGD_ID:405255654
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2355	anemia		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2384	Wernicke encephalopathy	treatment	ISO	RGD:2626	D	RGD:9068941	20240328	RGD			PMID:8229066|REF_RGD_ID:405100718
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence		ISO	RGD:2626	D	RGD:9068941	20240404	RGD			PMID:12225868|REF_RGD_ID:405255651
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2626	D	RGD:9068941	20240328	RGD			PMID:10998122|PMID:27053349|REF_RGD_ID:401959748|REF_RGD_ID:405100721
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:289	endometriosis		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23284138
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2921	glomerulonephritis		ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:11880336|REF_RGD_ID:7242278
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:31821871|REF_RGD_ID:405650596
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3328	temporal lobe epilepsy	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:33559830|REF_RGD_ID:405650612
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3602	toxic encephalopathy		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19220411
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:735729	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15514944|REF_RGD_ID:2293757
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:4001	ovarian carcinoma		ISO	RGD:735729	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5844	myocardial infarction		ISO	RGD:2626	D	RGD:9068941	20240418	RGD		protein:increased expression:paraventricular nucleus hypothalamus, paraventricular nucleus thalamus	PMID:27601012|REF_RGD_ID:405649741
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:6000	congestive heart failure		ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:15623567|REF_RGD_ID:2293777
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:6364	migraine	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:32522232|REF_RGD_ID:405650618
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:10596	D	RGD:9068941	20240328	RGD		mRNA:increased expression:nucleus accumbens	PMID:24183790|REF_RGD_ID:405100720
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:2626	D	RGD:9068941	20240411	RGD		protein:increased expression:nucleus accumbens,striatum	PMID:18834549|REF_RGD_ID:405255667
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:670	amphetamine abuse		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19689456
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560|PMID:9029167
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:10596	D	RGD:9068941	20240328	RGD			PMID:28366798|REF_RGD_ID:405100962
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:863	nervous system disease		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12890883
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:735729	D	RGD:9068941	20200609	RGD		protein: increased expression: kidney	PMID:16049073|REF_RGD_ID:7242198
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:29208967|REF_RGD_ID:405650595
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9000363	Hematuria	treatment	ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:22634839|REF_RGD_ID:7242178
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:altered expression:brain	PMID:26727528|REF_RGD_ID:405101372
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:2626	D	RGD:9068941	20240411	RGD		mRNA:decreased expression:adrenal gland	PMID:12351928|REF_RGD_ID:405255666
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9000945	Ventilator-Induced Lung Injury	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:34986829|REF_RGD_ID:405650616
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9000998	Brain Injuries		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9630518
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9001048	Nociceptive Pain	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:21107265|REF_RGD_ID:405650611
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2626	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal horn of spinal cord, neuron	PMID:22160634|REF_RGD_ID:9999169
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002211	Hyperalgesia		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:26322574|REF_RGD_ID:405650593
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002362	Hyperkinesis		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18355967
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:24186846|REF_RGD_ID:405650594
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:altered expression:brain	PMID:26727528|REF_RGD_ID:405101372
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002735	alcohol withdrawal syndrome	treatment	ISO	RGD:2626	D	RGD:9068941	20240411	RGD			PMID:31778691|REF_RGD_ID:405255665
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:735729	D	RGD:9068941	20200609	RGD			PMID:21344377|REF_RGD_ID:13210752
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9003481	Inhalant Abuse		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		toluene	PMID:22074881|REF_RGD_ID:405101373
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2626	D	RGD:9068941	20240502	RGD		protein:decreased expression:hippocampus	PMID:25262910|REF_RGD_ID:405650622
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2626	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:15121240|REF_RGD_ID:2293779
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7922267
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:liver	PMID:9731567|REF_RGD_ID:405101375
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005100	Aberrant Crypt Foci		ISO	RGD:2626	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:colon, epithelial cell	PMID:1576709|REF_RGD_ID:13210754
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005100	Aberrant Crypt Foci	treatment	ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:8449605|REF_RGD_ID:13432056
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2626	D	RGD:9068941	20240328	RGD		mRNA:increased expression:caudate putamen,nucleus accumbens	PMID:11122358|REF_RGD_ID:405100959
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2626	D	RGD:9068941	20240328	RGD		protein:increased expression:periaqueductal gray,neuron	PMID:9460759|REF_RGD_ID:405100960
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:central nervous system	PMID:12814374|REF_RGD_ID:405101374
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289808
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		protein:increased expression:brain	PMID:14741756|REF_RGD_ID:405255650
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17276011|PMID:18311559|PMID:19533625
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2626	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue epithelium	PMID:14674993|REF_RGD_ID:2293780
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:10596	D	RGD:9068941	20200609	RGD			PMID:19095962|REF_RGD_ID:7242184
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9006302	Binge Drinking		ISO	RGD:2626	D	RGD:9068941	20240411	RGD		protein:increased expression:prefrontal cortex	PMID:29407478|REF_RGD_ID:405295494
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8777434
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008217	Hemorrhage		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7844257
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008267	Fibrous Dysplasia of Bone		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7739708
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008331	Tendon Injuries	treatment	ISO	RGD:2626	D	RGD:9068941	20200609	RGD			PMID:23519232|REF_RGD_ID:10395300
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:10596	D	RGD:9068941	20200609	RGD			PMID:11481418|REF_RGD_ID:13210758
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:735729	D	RGD:9068941	20200609	RGD			PMID:9781601|REF_RGD_ID:13210756
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:2626	D	RGD:9068941	20240427	RGD			PMID:23054911|REF_RGD_ID:405650598
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9778	irritable bowel syndrome	treatment	ISO	RGD:2626	D	RGD:9068941	20240502	RGD			PMID:22500715|REF_RGD_ID:405650607
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9970	obesity		ISO	RGD:735729	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27071101
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:2626	D	RGD:9068941	20240404	RGD		mRNA:increased expression:brain	PMID:18488248|REF_RGD_ID:401959615
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence		ISO	RGD:2626	D	RGD:9068941	20240418	RGD		protein:increased expression:habenula	PMID:29139213|REF_RGD_ID:401900161
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	severity	ISO	RGD:2626	D	RGD:9068941	20240328	RGD		protein:increased expression:brain	PMID:24633559|REF_RGD_ID:405100965
12065796	FOS	Fos proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:2626	D	RGD:9068941	20240404	RGD			PMID:18310906|PMID:26674058|REF_RGD_ID:405100964|REF_RGD_ID:405101699
12065806	ERMN	ermin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065806	ERMN	ermin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12065806	ERMN	ermin	gene	DOID:3275	thymoma		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065806	ERMN	ermin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065813	RAB3B	RAB3B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065813	RAB3B	RAB3B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065841	TAL1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1315544	D	RGD:9068941	20240425	MouseDO			
12065841	TAL1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562|PMID:24394663
12065841	TAL1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:7240710	20230505	OMIM			
12065841	TAL1	TAL bHLH transcription factor 1, erythroid differentiation factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315543	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: TAL1-related condition	
12065855	TPD52L2	TPD52 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065855	TPD52L2	TPD52 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065855	TPD52L2	TPD52 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065855	TPD52L2	TPD52 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065855	TPD52L2	TPD52 like 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1352243	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12065855	TPD52L2	TPD52 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065855	TPD52L2	TPD52 like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065855	TPD52L2	TPD52 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12065855	TPD52L2	TPD52 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065855	TPD52L2	TPD52 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065855	TPD52L2	TPD52 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065855	TPD52L2	TPD52 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1359180	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve	PMID:21959983|REF_RGD_ID:10045367
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353437	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1353437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191284
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1359180	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:21728064|REF_RGD_ID:10045359
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1353437	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191284
12065888	RCHY1	ring finger and CHY zinc finger domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353437	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065924	LLPH	LLP homolog, long-term synaptic facilitation factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:0110140	Bardet-Biedl syndrome 18		ISO	RGD:2300355	D	RGD:7240710	20180130	OMIM			
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:0110140	Bardet-Biedl syndrome 18		ISO	RGD:2300355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 18 | ClinVar Annotator: match by term: BBIP1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 18	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32055034|PMID:32552793|PMID:35562395|PMID:9536098
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:2300355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:8927	learning disability		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
12065931	BBIP1	BBSome interacting protein 1	gene	DOID:9970	obesity		ISO	RGD:2300355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:10316	pneumoconiosis		ISO	RGD:1602314	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:1324	lung cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:3275	thymoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:4362	cervical cancer		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5041	esophageal cancer		ISO	RGD:1602314	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12065953	SPNS1	SPNS lysolipid transporter 1, lysophospholipid	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066042	MIRLET7D	microRNA let-7d	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1343706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12066042	MIRLET7D	microRNA let-7d	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1343706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12066042	MIRLET7D	microRNA let-7d	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1343706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12066042	MIRLET7D	microRNA let-7d	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12066042	MIRLET7D	microRNA let-7d	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12066061	ALKBH6	alkB homolog 6	gene	DOID:1324	lung cancer		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066061	ALKBH6	alkB homolog 6	gene	DOID:3070	high grade glioma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12066061	ALKBH6	alkB homolog 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066061	ALKBH6	alkB homolog 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:730900	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0070309	absence epilepsy		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0080472	developmental and epileptic encephalopathy 91		ISO	RGD:730900	D	RGD:7240710	20190315	OMIM			
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:0080472	developmental and epileptic encephalopathy 91		ISO	RGD:730900	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 91 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 91 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 1	PMID:17576681|PMID:25262651|PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:30904718|PMID:32238909|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402|PMID:9536098
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:11836	clubfoot		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12849	autistic disorder		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12858	Huntington's disease		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:19733666|REF_RGD_ID:6483320
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:11134	D	RGD:9068941	20240425	MouseDO			
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:730900	D	RGD:9068941	20200609	RGD			PMID:26436650|REF_RGD_ID:13515117
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1826	epilepsy		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:1827	generalized epilepsy		ISO	RGD:730900	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:2519	testicular disease		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785681
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:2519	testicular disease	treatment	ISO	RGD:11134	D	RGD:9068941	20200609	RGD		associated with Cadmium Poisoning	PMID:17785681|REF_RGD_ID:13515119
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4001	ovarian carcinoma		ISO	RGD:730900	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:730900	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:4989	pancreatitis		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22952646
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:5419	schizophrenia		ISO	RGD:730900	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:15820226|REF_RGD_ID:13515121
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:557	kidney disease		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:27009276|REF_RGD_ID:11537650
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:674	cleft palate		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:25741868
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:893	Wilson disease		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:3382	D	RGD:9068941	20200609	RGD		protein: :hippocampus	PMID:19751097|REF_RGD_ID:6483311
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9000998	Brain Injuries		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499481
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9001596	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development		ISO	RGD:730900	D	RGD:7240710	20190315	OMIM			
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9001596	Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11134	D	RGD:9068941	20240104	RGD			PMID:12515860|PMID:21273244|REF_RGD_ID:401940178|REF_RGD_ID:734902
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:14762344|REF_RGD_ID:1580702
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:15336966|PMID:9568714|REF_RGD_ID:1579951|REF_RGD_ID:1579956
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344631
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:15537502|REF_RGD_ID:1580701
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:11134	D	RGD:9068941	20200609	RGD			PMID:9568714|REF_RGD_ID:1579956
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3382	D	RGD:9068941	20200609	RGD			PMID:16799071|REF_RGD_ID:1580700
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:28942967|PMID:29432562|PMID:32593294|PMID:33963760|PMID:8052858|PMID:8524402
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008582	Developmental Disease		ISO	RGD:730900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066106	PPP3CA	protein phosphatase 3 catalytic subunit alpha	gene	DOID:9256	colorectal cancer		ISO	RGD:730900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12066131	EDN2	endothelin 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:737548	D	RGD:9068941	20200609	RGD			PMID:9015697|REF_RGD_ID:1580919
12066131	EDN2	endothelin 2	gene	DOID:10763	hypertension		ISO	RGD:737548	D	RGD:9068941	20200609	RGD			PMID:10489105|PMID:10976780|REF_RGD_ID:1580916|REF_RGD_ID:1580917
12066131	EDN2	endothelin 2	gene	DOID:10763	hypertension		ISO	RGD:737548	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte	PMID:15007037|REF_RGD_ID:1625402
12066131	EDN2	endothelin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066131	EDN2	endothelin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:2533	D	RGD:9068941	20200609	RGD			PMID:10573185|REF_RGD_ID:1580921
12066131	EDN2	endothelin 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:737548	D	RGD:9068941	20200609	RGD			PMID:10598486|REF_RGD_ID:1580918
12066131	EDN2	endothelin 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2533	D	RGD:9068941	20200609	RGD			PMID:1479622|REF_RGD_ID:1580920
12066131	EDN2	endothelin 2	gene	DOID:9004080	Aortic Rupture		ISO	RGD:737548	D	RGD:9068941	20200609	RGD			PMID:11947982|REF_RGD_ID:1580915
12066131	EDN2	endothelin 2	gene	DOID:9006024	Hypotension		ISO	RGD:737548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1309933
12066131	EDN2	endothelin 2	gene	DOID:9006045	Dissecting Aneurysm		ISO	RGD:737548	D	RGD:9068941	20200609	RGD			PMID:11947982|REF_RGD_ID:1580915
12066131	EDN2	endothelin 2	gene	DOID:9007001	Bradycardia		ISO	RGD:737548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1309933
12066143	CAPS	calcyphosine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066143	CAPS	calcyphosine	gene	DOID:10534	stomach cancer		ISO	RGD:1348480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066143	CAPS	calcyphosine	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12066143	CAPS	calcyphosine	gene	DOID:4362	cervical cancer		ISO	RGD:1348480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066143	CAPS	calcyphosine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:1115	sarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:3275	thymoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:4362	cervical cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066151	ZNF618	zinc finger protein 618	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12066151	ZNF618	zinc finger protein 618	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066151	ZNF618	zinc finger protein 618	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12066151	ZNF618	zinc finger protein 618	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066151	ZNF618	zinc finger protein 618	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066151	ZNF618	zinc finger protein 618	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066170	CYB5R4	cytochrome b5 reductase 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1622875	D	RGD:9068941	20200609	RGD			PMID:15247412|REF_RGD_ID:2315644
12066170	CYB5R4	cytochrome b5 reductase 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1622875	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12066170	CYB5R4	cytochrome b5 reductase 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733318	D	RGD:9068941	20200609	RGD		DNA:deletion:intron:IVSV+7TC (human)	PMID:15504981|REF_RGD_ID:2315647
12066190	RNF11	ring finger protein 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066190	RNF11	ring finger protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1314582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066190	RNF11	ring finger protein 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1314582	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066190	RNF11	ring finger protein 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12066190	RNF11	ring finger protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:1115	sarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:1324	lung cancer		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:1909	melanoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:3275	thymoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1318020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066208	MRPS5	mitochondrial ribosomal protein S5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066224	AADAC	arylacetamide deacetylase	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:737554	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative	PMID:21681106|PMID:25666259|PMID:27854218
12066224	AADAC	arylacetamide deacetylase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12066233	CAPRIN2	caprin family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066233	CAPRIN2	caprin family member 2	gene	DOID:0060673	Peters anomaly		ISO	RGD:1614922	D	RGD:9068941	20260319	MouseDO			
12066233	CAPRIN2	caprin family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066233	CAPRIN2	caprin family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066233	CAPRIN2	caprin family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066233	CAPRIN2	caprin family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066233	CAPRIN2	caprin family member 2	gene	DOID:1909	melanoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066233	CAPRIN2	caprin family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12066233	CAPRIN2	caprin family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066233	CAPRIN2	caprin family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066233	CAPRIN2	caprin family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066233	CAPRIN2	caprin family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:10534	stomach cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:1115	sarcoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:1324	lung cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:1909	melanoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:2394	ovarian cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:3275	thymoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:4362	cervical cancer		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1603690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066256	VPS8	VPS8 subunit of CORVET complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066315	C6	complement C6	gene	DOID:0060299	complement component 6 deficiency		ISO	RGD:1352972	D	RGD:7240710	20180130	OMIM			
12066315	C6	complement C6	gene	DOID:0060299	complement component 6 deficiency		ISO	RGD:1352972	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: C6 DEFICIENCY | ClinVar Annotator: match by term: C6-related condition | ClinVar Annotator: match by term: Complement component 6 deficiency | ClinVar Annotator: match by term: complement component 6 deficiency	PMID:10632667|PMID:12653841|PMID:16199547|PMID:17257682|PMID:17576681|PMID:22288589|PMID:23537992|PMID:24033266|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:32860008|PMID:33386334|PMID:7535801|PMID:8690922|PMID:8871666|PMID:9472666|PMID:9536098|PMID:9856498
12066315	C6	complement C6	gene	DOID:0070658	alcohol-associated liver disease	resistance	ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:15351314|REF_RGD_ID:1600673
12066315	C6	complement C6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinopathy of prematurity	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:1324	lung cancer		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:182	calcinosis		ISO	RGD:1352972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12066315	C6	complement C6	gene	DOID:1909	melanoma		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:2921	glomerulonephritis		ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:10807586|REF_RGD_ID:1600489
12066315	C6	complement C6	gene	DOID:4079	heart valve disease		ISO	RGD:1352972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12066315	C6	complement C6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066315	C6	complement C6	gene	DOID:576	proteinuria		ISO	RGD:2238	D	RGD:9068941	20200609	RGD		associated with Glomerulonephritis	PMID:2672823|REF_RGD_ID:1600682
12066315	C6	complement C6	gene	DOID:630	genetic disease		ISO	RGD:1352972	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12066315	C6	complement C6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:783	end stage renal disease	severity	ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:11912252|REF_RGD_ID:1600675
12066315	C6	complement C6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	severity	ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:11970970|REF_RGD_ID:625607
12066315	C6	complement C6	gene	DOID:9004484	Sepsis	severity	ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:15638131|REF_RGD_ID:1600672
12066315	C6	complement C6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:9006095	Ascites		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:9006362	C6 Deficiency, Subtotal		ISO	RGD:1352972	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMPLEMENT COMPONENT 6 DEFICIENCY, SUBTOTAL	PMID:16199547|PMID:17257682|PMID:2437825|PMID:24378253|PMID:25741868|PMID:28492532|PMID:31440263|PMID:33386334|PMID:7535801|PMID:8871666
12066315	C6	complement C6	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis	susceptibility	ISO	RGD:2238	D	RGD:9068941	20200609	RGD			PMID:17034580|REF_RGD_ID:1600670
12066352	STRN3	striatin 3	gene	DOID:0060058	lymphoma		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12066352	STRN3	striatin 3	gene	DOID:10534	stomach cancer		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066352	STRN3	striatin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066352	STRN3	striatin 3	gene	DOID:1324	lung cancer		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12066352	STRN3	striatin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12066352	STRN3	striatin 3	gene	DOID:4362	cervical cancer		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066352	STRN3	striatin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066352	STRN3	striatin 3	gene	DOID:6039	uveal melanoma		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12066352	STRN3	striatin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066352	STRN3	striatin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066352	STRN3	striatin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066385	NEUROG1	neurogenin 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1352814	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12066385	NEUROG1	neurogenin 1	gene	DOID:9008019	CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY		ISO	RGD:1352814	D	RGD:7240710	20230920	OMIM			
12066385	NEUROG1	neurogenin 1	gene	DOID:9008019	CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY		ISO	RGD:1352814	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay	PMID:25741868|PMID:32720330|PMID:33439489|PMID:36647078
12066389	TMCC3	transmembrane and coiled-coil domain family 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066389	TMCC3	transmembrane and coiled-coil domain family 3	gene	DOID:2661	myoepithelioma		ISO	RGD:1346901	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12066389	TMCC3	transmembrane and coiled-coil domain family 3	gene	DOID:3275	thymoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066389	TMCC3	transmembrane and coiled-coil domain family 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12066389	TMCC3	transmembrane and coiled-coil domain family 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:0080978	arthrogryposis multiplex congenita-1		ISO	RGD:1344124	D	RGD:7240710	20190315	OMIM			
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:0080978	arthrogryposis multiplex congenita-1		ISO	RGD:1344124	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 1, NEUROGENIC, WITH MYELIN DEFECT | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita, neurogenic, with myelin defect | ClinVar Annotator: match by term: LGI4-related condition	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532|PMID:31130284
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:0090124	neurogenic-type arthrogryposis multiplex congenita-2		ISO	RGD:1344124	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 2, neurogenic type	PMID:25741868
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:1344124	D	RGD:9068941	20200609	RGD		DNA:point mutation: :c.1914G>A (human)	PMID:14505228|REF_RGD_ID:1302591
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:630	genetic disease		ISO	RGD:1344124	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28318499|PMID:28490743|PMID:28492532
12066406	LGI4	leucine rich repeat LGI family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066419	TRIM68	tripartite motif containing 68	gene	DOID:1115	sarcoma		ISO	RGD:1344713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066419	TRIM68	tripartite motif containing 68	gene	DOID:1324	lung cancer		ISO	RGD:1344713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066419	TRIM68	tripartite motif containing 68	gene	DOID:1909	melanoma		ISO	RGD:1344713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066419	TRIM68	tripartite motif containing 68	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066441	C24H20orf96	chromosome 24 C20orf96 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:0110815	hereditary spastic paraplegia 64		ISO	RGD:733329	D	RGD:7240710	20180130	OMIM			
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1059	intellectual disability		ISO	RGD:733329	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:733329	D	RGD:9068941	20200609	RGD		protein:decreased expression:abdominal fascia:	PMID:17469012|REF_RGD_ID:9685457
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1459	hypothyroidism		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:hippocampus:	PMID:15811553|REF_RGD_ID:9685476
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:decreased activity,altered location:liver:	PMID:11383876|REF_RGD_ID:9685454
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:9634555|REF_RGD_ID:9685492
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:3213	demyelinating disease		ISO	RGD:69265	D	RGD:9068941	20200609	RGD			PMID:17239402|REF_RGD_ID:9685485
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:increased expression,increased activity:cerebral cortex:	PMID:16672190|REF_RGD_ID:9685448
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9002514	Neointima	treatment	ISO	RGD:733329	D	RGD:9068941	20200609	RGD			PMID:18485080|REF_RGD_ID:9685444
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	disease_progression	ISO	RGD:69265	D	RGD:9068941	20200609	RGD			PMID:19524108|REF_RGD_ID:9685491
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:733330	D	RGD:9068941	20200609	RGD			PMID:10656876|REF_RGD_ID:9685445
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9004484	Sepsis		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:increased activity:lymphocyte:	PMID:22645477|REF_RGD_ID:9685487
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein,mRNA:increased expression:glial cell, retina:	PMID:18687327|REF_RGD_ID:9685473
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:enzyme activity:platelet	PMID:17119848|REF_RGD_ID:9685486
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9005725	Iron Overload		ISO	RGD:69265	D	RGD:9068941	20200609	RGD		protein:enzyme activity:platelet	PMID:17119848|REF_RGD_ID:9685486
12066459	ENTPD1	ectonucleoside triphosphate diphosphohydrolase 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:733330	D	RGD:9068941	20200609	RGD			PMID:10470077|REF_RGD_ID:735004
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:1909	melanoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:3275	thymoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:7240710	20240117	OMIM			
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9003388	ALFADHEL SYNDROME		ISO	RGD:1318400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALFADHEL SYNDROME | ClinVar Annotator: match by term: Alfadhel syndrome	PMID:25741868
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066501	RAP1GDS1	Rap1 GTPase-GDP dissociation stimulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066520	RNF39	ring finger protein 39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066520	RNF39	ring finger protein 39	gene	DOID:10534	stomach cancer		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066520	RNF39	ring finger protein 39	gene	DOID:1115	sarcoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066520	RNF39	ring finger protein 39	gene	DOID:2394	ovarian cancer		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12066520	RNF39	ring finger protein 39	gene	DOID:3275	thymoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066520	RNF39	ring finger protein 39	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12066520	RNF39	ring finger protein 39	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1604283	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12066520	RNF39	ring finger protein 39	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066520	RNF39	ring finger protein 39	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12066520	RNF39	ring finger protein 39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066520	RNF39	ring finger protein 39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:1909	melanoma		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620335	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus CA1	PMID:11425895|REF_RGD_ID:628524
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:731033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31401084
12066532	DFFB	DNA fragmentation factor subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20665664
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066550	TNFAIP1	TNF alpha induced protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066561	ACR	acrosin	gene	DOID:0070586	spermatogenic failure 87		ISO	RGD:736688	D	RGD:7240710	20230906	OMIM			
12066561	ACR	acrosin	gene	DOID:0070586	spermatogenic failure 87		ISO	RGD:736688	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 87	
12066561	ACR	acrosin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066561	ACR	acrosin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066561	ACR	acrosin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066573	FAM110C	family with sequence similarity 110 member C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066573	FAM110C	family with sequence similarity 110 member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066581	INHBC	inhibin subunit beta C	gene	DOID:1324	lung cancer		ISO	RGD:733811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066581	INHBC	inhibin subunit beta C	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12066587	MORN1	MORN repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066587	MORN1	MORN repeat containing 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12066587	MORN1	MORN repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066587	MORN1	MORN repeat containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12066587	MORN1	MORN repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066587	MORN1	MORN repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066587	MORN1	MORN repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602465	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066587	MORN1	MORN repeat containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066621	SREK1IP1	SREK1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066621	SREK1IP1	SREK1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066621	SREK1IP1	SREK1 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066621	SREK1IP1	SREK1 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066621	SREK1IP1	SREK1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:3275	thymoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12066630	FAM8A1	family with sequence similarity 8 member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066639	RIPPLY2	ripply transcriptional repressor 2	gene	DOID:0112360	spondylocostal dysostosis 6		ISO	RGD:1604749	D	RGD:7240710	20180130	OMIM			
12066639	RIPPLY2	ripply transcriptional repressor 2	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1604749	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12066653	TMEM121	transmembrane protein 121	gene	DOID:2661	myoepithelioma		ISO	RGD:1606775	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12066653	TMEM121	transmembrane protein 121	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:1909	melanoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066665	EXOC3L4	exocyst complex component 3 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066705	LYVE1	lymphatic vessel endothelial hyaluronan receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:0080600	COVID-19		ISO	RGD:732285	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:10534	stomach cancer		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:1826	epilepsy		ISO	RGD:732285	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12941474
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:1909	melanoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:3275	thymoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:732285	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19084381
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:4362	cervical cancer		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:5041	esophageal cancer		ISO	RGD:732285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:6000	congestive heart failure		ISO	RGD:62073	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction (CTD:0006167); mRNA:increased expression:heart left ventricle, septum	PMID:16497176|REF_RGD_ID:1642301
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:6039	uveal melanoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:9001240	Peripheral Nerve Injuries	sexual_dimorphism	ISO	RGD:62073	D	RGD:9068941	20210122	RGD		in male rat; protein:increased expression:microglia	PMID:29927790|REF_RGD_ID:40924654
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:62073	D	RGD:9068941	20210122	RGD		associated with Peripheral Nerve Injuries;	PMID:29927790|REF_RGD_ID:40924654
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066793	P2RX4	purinergic receptor P2X 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12066809	ANAPC15	anaphase promoting complex subunit 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066809	ANAPC15	anaphase promoting complex subunit 15	gene	DOID:10534	stomach cancer		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066809	ANAPC15	anaphase promoting complex subunit 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066809	ANAPC15	anaphase promoting complex subunit 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066809	ANAPC15	anaphase promoting complex subunit 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066834	DRGX	dorsal root ganglia homeobox	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066834	DRGX	dorsal root ganglia homeobox	gene	DOID:1324	lung cancer		ISO	RGD:1353814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:26077881|PMID:26130459|PMID:28492532
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly	PMID:26077881|PMID:26130459|PMID:28492532
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1115	sarcoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1148	polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:26077881|PMID:26130459|PMID:28492532
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1324	lung cancer		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:3070	high grade glioma		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:630	genetic disease		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9004314	Short-Rib Thoracic Dysplasia 15 with Polydactyly		ISO	RGD:1602120	D	RGD:7240710	20190315	OMIM			
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9004314	Short-Rib Thoracic Dysplasia 15 with Polydactyly		ISO	RGD:1602120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYNC2LI1-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 15 with polydactyly	PMID:17576681|PMID:25741868|PMID:26077881|PMID:26130459|PMID:28492532|PMID:28857138|PMID:32815859|PMID:34997029|PMID:9536098
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066844	DYNC2LI1	dynein cytoplasmic 2 light intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:1909	melanoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066881	UHRF2	ubiquitin like with PHD and ring finger domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066902	FBXO32	F-box protein 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066902	FBXO32	F-box protein 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066902	FBXO32	F-box protein 32	gene	DOID:0060224	atrial fibrillation		ISO	RGD:734419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12066902	FBXO32	F-box protein 32	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868
12066902	FBXO32	F-box protein 32	gene	DOID:10534	stomach cancer		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066902	FBXO32	F-box protein 32	gene	DOID:1115	sarcoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066902	FBXO32	F-box protein 32	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:734419	D	RGD:9068941	20230520	RGD		mRNA:increased expression:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
12066902	FBXO32	F-box protein 32	gene	DOID:1909	melanoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12066902	FBXO32	F-box protein 32	gene	DOID:3275	thymoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066902	FBXO32	F-box protein 32	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12066902	FBXO32	F-box protein 32	gene	DOID:5041	esophageal cancer		ISO	RGD:734419	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066902	FBXO32	F-box protein 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066902	FBXO32	F-box protein 32	gene	DOID:767	muscular atrophy		ISO	RGD:620373	D	RGD:9068941	20200609	RGD			PMID:11679633|REF_RGD_ID:633893
12066902	FBXO32	F-box protein 32	gene	DOID:767	muscular atrophy		ISO	RGD:734419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21139329
12066902	FBXO32	F-box protein 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12066915	MFAP1	microfibril associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066928	NOL7	nucleolar protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12066928	NOL7	nucleolar protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12066928	NOL7	nucleolar protein 7	gene	DOID:3275	thymoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12066928	NOL7	nucleolar protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12066928	NOL7	nucleolar protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	ISO	RGD:1306361	D	RGD:9068941	20240627	RGD			PMID:23763370|REF_RGD_ID:13432044
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:0081337	congenital myopathy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1115	sarcoma		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:12849	autistic disorder		ISO	RGD:1314934	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11543639|PMID:19404257|PMID:20609483
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1824	status epilepticus		ISO	RGD:1314934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Non-Convulsive Status Epilepticus	PMID:25741868
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1826	epilepsy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:7240710	20180130	OMIM			
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANGELMAN SYNDROME | ClinVar Annotator: match by term: Angelman syndrome | ClinVar Annotator: match by term: HAPPY PUPPET SYNDROME | ClinVar Annotator: match by term: UBE3A-related condition	PMID:10647895|PMID:11748306|PMID:12210318|PMID:14981718|PMID:15054837|PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:18414213|PMID:18821858|PMID:19213023|PMID:20034088|PMID:20301323|PMID:22190369|PMID:22670133|PMID:2309781|PMID:23416059|PMID:23495136|PMID:23708187|PMID:24876791|PMID:25099823|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26255772|PMID:26467025|PMID:26993267|PMID:28252636|PMID:28492532|PMID:29162042|PMID:31031587|PMID:33057194|PMID:33607653|PMID:34815418|PMID:36011358|PMID:8988171|PMID:8988172|PMID:9887341
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:1932	Angelman syndrome	treatment	ISO	RGD:1314935	D	RGD:9068941	20200609	RGD			PMID:25470045|PMID:25866966|REF_RGD_ID:12859273|REF_RGD_ID:12859274
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:3275	thymoma		ISO	RGD:1314934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:4362	cervical cancer		ISO	RGD:1314934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:480	movement disease		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:630	genetic disease		ISO	RGD:1314934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15263005|PMID:16470747|PMID:17765640|PMID:17940072|PMID:19213023|PMID:22670133|PMID:2309781|PMID:24876791|PMID:25212744|PMID:25741868|PMID:25884337|PMID:26219744|PMID:26467025|PMID:28492532|PMID:33547396|PMID:34815418|PMID:8988171
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:767	muscular atrophy		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:11748306|PMID:20034088|PMID:25212744|PMID:25741868|PMID:28492532|PMID:36011358
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1314934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25212744|PMID:28492532
12066940	UBE3A	ubiquitin protein ligase E3A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1314934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878204
12066983	BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12066983	BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352215	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12066983	BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12066983	BAIAP2L1	BAR/IMD domain containing adaptor protein 2 like 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12067005	MED13	mediator complex subunit 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312495	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1312495	D	RGD:7240710	20200226	OMIM			
12067005	MED13	mediator complex subunit 13	gene	DOID:0061034	autosomal dominant intellectual developmental disorder 61		ISO	RGD:1312495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 61 | ClinVar Annotator: match by term: Intellectual developmental disorder 61 | ClinVar Annotator: match by term: MED13-related condition	PMID:25741868|PMID:28492532|PMID:29740199|PMID:29740699|PMID:29758562|PMID:35982160|PMID:36087421|PMID:38528425|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:0070043	autosomal dominant intellectual developmental disorder 13		ISO	RGD:1312495	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:0080855	Parkinsonism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss	
12067005	MED13	mediator complex subunit 13	gene	DOID:10488	imperforate anus		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:1059	intellectual disability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:10907	microcephaly		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067005	MED13	mediator complex subunit 13	gene	DOID:1115	sarcoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:12849	autistic disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:1324	lung cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067005	MED13	mediator complex subunit 13	gene	DOID:1682	congenital heart disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:1826	epilepsy		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	
12067005	MED13	mediator complex subunit 13	gene	DOID:2030	anxiety disorder		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:3070	high grade glioma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067005	MED13	mediator complex subunit 13	gene	DOID:3087	gingivitis		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:4362	cervical cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067005	MED13	mediator complex subunit 13	gene	DOID:480	movement disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1312495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067005	MED13	mediator complex subunit 13	gene	DOID:540	strabismus		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12067005	MED13	mediator complex subunit 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067005	MED13	mediator complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:630	genetic disease		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29740699|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067005	MED13	mediator complex subunit 13	gene	DOID:8927	learning disability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312495	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9004507	Hirsutism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	
12067005	MED13	mediator complex subunit 13	gene	DOID:9005077	Joint Instability		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1304829	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary	PMID:25287062|REF_RGD_ID:9681715
12067005	MED13	mediator complex subunit 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067005	MED13	mediator complex subunit 13	gene	DOID:9007661	Dwarfism		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35982160|PMID:38958063
12067005	MED13	mediator complex subunit 13	gene	DOID:9008268	Enuresis		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312495	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067005	MED13	mediator complex subunit 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067005	MED13	mediator complex subunit 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12067005	MED13	mediator complex subunit 13	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	
12067005	MED13	mediator complex subunit 13	gene	DOID:9840	esotropia		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
12067005	MED13	mediator complex subunit 13	gene	DOID:9970	obesity		ISO	RGD:1312495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0050562	West syndrome		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0051062	ischemic stroke		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0070519	early-onset vitamin B6-dependent epilepsy 4		ISO	RGD:1318489	D	RGD:7240710	20240131	OMIM			
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0070519	early-onset vitamin B6-dependent epilepsy 4		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17433748|PMID:17576681|PMID:19128417|PMID:19142996|PMID:19433287|PMID:20207735|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22371912|PMID:22728861|PMID:22784480|PMID:23350806|PMID:23916709|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24789515|PMID:24942048|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26224730|PMID:26467025|PMID:26539891|PMID:26995068|PMID:27186704|PMID:27342130|PMID:28087462|PMID:28492532|PMID:29286531|PMID:29655203|PMID:29924869|PMID:30043187|PMID:31302938|PMID:31487502|PMID:31652343|PMID:31737911|PMID:31990480|PMID:32173089|PMID:32685344|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33868381|PMID:34926809|PMID:36471706|PMID:37645600|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0080001	bone disease		ISO	RGD:1318489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25004007
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1318489	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy	PMID:16159904|PMID:16199547|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18414213|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:19433287|PMID:20207735|PMID:20301659|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:22804844|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23714749|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24122892|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24748525|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26437932|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26555630|PMID:26891797|PMID:26995068|PMID:27186704|PMID:27324284|PMID:27342130|PMID:27438048|PMID:27882480|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29056246|PMID:29286531|PMID:29547829|PMID:29655203|PMID:29661537|PMID:29720203|PMID:29852413|PMID:29924869|PMID:29933521|PMID:30043187|PMID:31302938|PMID:31440721|PMID:31487502|PMID:31564432|PMID:31652343|PMID:31737911|PMID:31965297|PMID:31990480|PMID:32173089|PMID:32395249|PMID:32685344|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33822359|PMID:33868381|PMID:34495967|PMID:34570182|PMID:34926809|PMID:35571021|PMID:35782612|PMID:37645600|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0080768	pyridoxine-dependent epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pyridoxine dependency with seizures | ClinVar Annotator: match by term: Pyridoxine-Dependent Seizures | ClinVar Annotator: match by term: Pyridoxine-dependent epilepsy	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17433748|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:19142996|PMID:19294602|PMID:19433287|PMID:20207735|PMID:20370816|PMID:20554659|PMID:20814824|PMID:21733724|PMID:22305855|PMID:22371912|PMID:22529283|PMID:22728861|PMID:22784480|PMID:22804844|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23683770|PMID:23916709|PMID:23925287|PMID:23953072|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24664145|PMID:24789515|PMID:24848745|PMID:24942048|PMID:25123644|PMID:25640679|PMID:25741868|PMID:25969726|PMID:26026794|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:26539891|PMID:26544041|PMID:26555630|PMID:26891797|PMID:26995068|PMID:27342130|PMID:27438048|PMID:28087462|PMID:28131559|PMID:28492532|PMID:28962114|PMID:29045138|PMID:29286531|PMID:2945505|PMID:29455050|PMID:29547829|PMID:29655203|PMID:29661537|PMID:29720203|PMID:29852413|PMID:29924869|PMID:29933521|PMID:30043187|PMID:31302938|PMID:31388081|PMID:31440721|PMID:31487502|PMID:31564432|PMID:31652343|PMID:31737911|PMID:31965297|PMID:31990480|PMID:32173089|PMID:32395249|PMID:32593896|PMID:32685344|PMID:32695065|PMID:32956737|PMID:33528079|PMID:33748042|PMID:33822359|PMID:33868381|PMID:34495967|PMID:34570182|PMID:34926809|PMID:35571021|PMID:35782612|PMID:36198807|PMID:36471706|PMID:37645600|PMID:38605122|PMID:38636407|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:16491085|PMID:19128417|PMID:20554659|PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:16491085|PMID:19128417|PMID:20554659|PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1059	intellectual disability		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532|PMID:30043187|PMID:39213953
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:10908	hydrocephalus		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:20554659|PMID:23350806|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1115	sarcoma		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:11832	visual epilepsy		ISO	RGD:1318489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal seizures | ClinVar Annotator: match by term: Seizure	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:12270	coloboma		ISO	RGD:1318489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25004007
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1324	lung cancer		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neonatal seizures	PMID:16199547|PMID:16491085|PMID:20554659|PMID:21733724|PMID:25741868|PMID:28492532|PMID:36471706
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23430810|PMID:24033266|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:26467025|PMID:28492532|PMID:29056246|PMID:30043187
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure	PMID:16159904|PMID:16491085|PMID:17068770|PMID:17088338|PMID:17576681|PMID:17721876|PMID:18717709|PMID:19128417|PMID:20301659|PMID:20370816|PMID:20554659|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1826	epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:16199547|PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:19128417|PMID:20370816|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22784480|PMID:23022070|PMID:23054014|PMID:23350806|PMID:23430810|PMID:23953072|PMID:24184718|PMID:24848745|PMID:25326637|PMID:25741868|PMID:26101365|PMID:26224730|PMID:26232297|PMID:27324284|PMID:28492532|PMID:29056246|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:1909	melanoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:16491085|PMID:20554659|PMID:20814824|PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:3070	high grade glioma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:3275	thymoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:4188	echolalia		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:22371912|PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:16491085|PMID:20554659|PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:480	movement disease		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16491085|PMID:18717709|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318489	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:6039	uveal melanoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:630	genetic disease		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:19128417|PMID:20207735|PMID:20554659|PMID:20814824|PMID:22371912|PMID:22784480|PMID:23350806|PMID:24184718|PMID:24613284|PMID:24664088|PMID:24942048|PMID:25741868|PMID:25969726|PMID:26101365|PMID:26232297|PMID:26467025|PMID:27342130|PMID:28087462|PMID:28492532|PMID:29286531|PMID:30043187|PMID:31564432|PMID:31737911|PMID:32956737|PMID:33868381|PMID:34926809|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1318489	D	RGD:9068941	20220616	RGD		mRNA:altered expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1318489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9000918	Disease Progression		ISO	RGD:1318489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9002079	Paresis		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1318489	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:16491085|PMID:18717709|PMID:19128417|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9004866	Ataxia		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16491085|PMID:18717709|PMID:20554659|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:31564432
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19142996|PMID:25741868|PMID:28087462|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16491085|PMID:17068770|PMID:17576681|PMID:18717709|PMID:20554659|PMID:23350806|PMID:25741868|PMID:26101365|PMID:26232297|PMID:28492532|PMID:30043187|PMID:31564432|PMID:31990480|PMID:9536098
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:936	brain disease		ISO	RGD:1318489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:16199547|PMID:16491085|PMID:20554659|PMID:25741868|PMID:28492532|PMID:30043187
12067040	ALDH7A1	aldehyde dehydrogenase 7 family member A1	gene	DOID:9840	esotropia		ISO	RGD:1318489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28492532
12067061	BSPRY	B-box and SPRY domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067061	BSPRY	B-box and SPRY domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067061	BSPRY	B-box and SPRY domain containing	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067061	BSPRY	B-box and SPRY domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067061	BSPRY	B-box and SPRY domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067071	NIPAL1	NIPA like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067081	WNT9A	Wnt family member 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067081	WNT9A	Wnt family member 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067081	WNT9A	Wnt family member 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067081	WNT9A	Wnt family member 9A	gene	DOID:1612	breast cancer		ISO	RGD:1312797	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor, cell line:up-regulated in 1/9 primary breast tumors and 2/3 breast cancer cell lines (T-47D, MCF-7)	PMID:11713592|REF_RGD_ID:2299944
12067081	WNT9A	Wnt family member 9A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1312797	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12067081	WNT9A	Wnt family member 9A	gene	DOID:3275	thymoma		ISO	RGD:1312797	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067081	WNT9A	Wnt family member 9A	gene	DOID:4362	cervical cancer		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067081	WNT9A	Wnt family member 9A	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1312797	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12067081	WNT9A	Wnt family member 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067081	WNT9A	Wnt family member 9A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:0060058	lymphoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:1909	melanoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067089	SDCBP	syndecan binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12067089	SDCBP	syndecan binding protein	gene	DOID:8398	osteoarthritis		ISO	RGD:1343667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12067089	SDCBP	syndecan binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067119	SUMF1	sulfatase modifying factor 1	gene	DOID:0050441	mucosulfatidosis		ISO	RGD:1553352	D	RGD:9068941	20220825	MouseDO		OMIM:272200	
12067119	SUMF1	sulfatase modifying factor 1	gene	DOID:1927	sphingolipidosis		ISO	RGD:1320552	D	RGD:9068941	20200609	RGD		Multiple Sulfatase Deficiency Disease	PMID:12757705|REF_RGD_ID:1599192
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:0060180	colitis		ISO	RGD:1344591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16917232
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:3044	food allergy		ISO	RGD:3029	D	RGD:9068941	20200609	RGD			PMID:14670821|REF_RGD_ID:2311549
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1344591	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:8778	Crohn's disease		ISO	RGD:3029	D	RGD:9068941	20200609	RGD			PMID:11703369|REF_RGD_ID:2311550
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067133	MADCAM1	mucosal vascular addressin cell adhesion molecule 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731299	D	RGD:9068941	20200609	RGD			PMID:17827401|PMID:9313747|REF_RGD_ID:2311544|REF_RGD_ID:2311545
12067142	KRT72	keratin 72	gene	DOID:1115	sarcoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067142	KRT72	keratin 72	gene	DOID:4362	cervical cancer		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067142	KRT72	keratin 72	gene	DOID:5041	esophageal cancer		ISO	RGD:1605869	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067142	KRT72	keratin 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067142	KRT72	keratin 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12067142	KRT72	keratin 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067142	KRT72	keratin 72	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067155	ZNF683	zinc finger protein 683	gene	DOID:0080600	COVID-19		ISO	RGD:1601926	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD8+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12067155	ZNF683	zinc finger protein 683	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067155	ZNF683	zinc finger protein 683	gene	DOID:1115	sarcoma		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067155	ZNF683	zinc finger protein 683	gene	DOID:4362	cervical cancer		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067155	ZNF683	zinc finger protein 683	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12067155	ZNF683	zinc finger protein 683	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12067155	ZNF683	zinc finger protein 683	gene	DOID:9001341	Chloracne		ISO	RGD:1601926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12067155	ZNF683	zinc finger protein 683	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067155	ZNF683	zinc finger protein 683	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:10534	stomach cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:1115	sarcoma		ISO	RGD:1321974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:1324	lung cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:4362	cervical cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067185	ZBTB21	zinc finger and BTB domain containing 21	gene	DOID:9256	colorectal cancer		ISO	RGD:1321974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:0060256	Dowling-Degos disease		ISO	RGD:1604326	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z		ISO	RGD:1604326	D	RGD:7240710	20190315	OMIM			
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:0080762	autosomal recessive limb-girdle muscular dystrophy type 2Z		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2Z | ClinVar Annotator: match by term: POGLUT1-related condition	PMID:25741868|PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9003079	Dowling-Degos Disease 4		ISO	RGD:1604326	D	RGD:7240710	20180130	OMIM			
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9003079	Dowling-Degos Disease 4		ISO	RGD:1604326	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DOWLING-DEGOS DISEASE 4 | ClinVar Annotator: match by term: Dowling-Degos disease 4	PMID:24387993|PMID:25741868|PMID:27479915|PMID:28492532|PMID:30414910
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067201	POGLUT1	protein O-glucosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067224	B3GNT9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067224	B3GNT9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1603192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
12067224	B3GNT9	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067230	F13B	coagulation factor XIII B chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067230	F13B	coagulation factor XIII B chain	gene	DOID:0060903	thrombosis		ISO	RGD:1323246	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
12067230	F13B	coagulation factor XIII B chain	gene	DOID:2211	factor XIII deficiency		ISO	RGD:1323246	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: F13B-related condition | ClinVar Annotator: match by term: Factor XIII deficiency	PMID:22353194|PMID:25044882|PMID:25741868|PMID:28399723|PMID:28492532|PMID:28748566
12067230	F13B	coagulation factor XIII B chain	gene	DOID:630	genetic disease		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12067230	F13B	coagulation factor XIII B chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067230	F13B	coagulation factor XIII B chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1323246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thrombosis, susceptibility to	PMID:25741868
12067230	F13B	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:7240710	20180130	OMIM			
12067230	F13B	coagulation factor XIII B chain	gene	DOID:9008281	Factor XIII, B Subunit, Deficiency Of		ISO	RGD:1323246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FACTOR XIII, B SUBUNIT, DEFICIENCY OF | ClinVar Annotator: match by term: Factor XIII, b subunit, deficiency of	PMID:14695539|PMID:20331752|PMID:25741868|PMID:28492532|PMID:34355501
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731768	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:0080361	trimethylaminuria		ISO	RGD:731768	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Trimethylaminuria	PMID:25741868
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:10534	stomach cancer		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:1909	melanoma		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:4362	cervical cancer		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067246	FMO4	flavin containing dimethylaniline monoxygenase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067269	GOLGA7	golgin A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067269	GOLGA7	golgin A7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067269	GOLGA7	golgin A7	gene	DOID:1115	sarcoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067269	GOLGA7	golgin A7	gene	DOID:3275	thymoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067269	GOLGA7	golgin A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067269	GOLGA7	golgin A7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:3275	thymoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:4362	cervical cancer		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067285	UBE2V2	ubiquitin conjugating enzyme E2 V2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067302	POLI	DNA polymerase iota	gene	DOID:1115	sarcoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067302	POLI	DNA polymerase iota	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067302	POLI	DNA polymerase iota	gene	DOID:4362	cervical cancer		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067302	POLI	DNA polymerase iota	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067302	POLI	DNA polymerase iota	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067302	POLI	DNA polymerase iota	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067302	POLI	DNA polymerase iota	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067302	POLI	DNA polymerase iota	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067333	NME7	NME/NM23 family member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733959	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:0080600	COVID-19		ISO	RGD:733959	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12067333	NME7	NME/NM23 family member 7	gene	DOID:10534	stomach cancer		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067333	NME7	NME/NM23 family member 7	gene	DOID:10908	hydrocephalus		ISO	RGD:733960	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
12067333	NME7	NME/NM23 family member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067333	NME7	NME/NM23 family member 7	gene	DOID:1115	sarcoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:1909	melanoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:303	substance-related disorder		ISO	RGD:733959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12067333	NME7	NME/NM23 family member 7	gene	DOID:3275	thymoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12067333	NME7	NME/NM23 family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067333	NME7	NME/NM23 family member 7	gene	DOID:758	visceral heterotaxy 5	susceptibility	ISO	RGD:733960	D	RGD:9068941	20250206	RGD			PMID:20080492|REF_RGD_ID:155630601
12067333	NME7	NME/NM23 family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067333	NME7	NME/NM23 family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067333	NME7	NME/NM23 family member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067333	NME7	NME/NM23 family member 7	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733959	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12067355	LOC100687054	immunoglobulin lambda-like polypeptide 5	gene	DOID:0080600	COVID-19		ISO	RGD:3362168	D	RGD:9068941	20201203	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12067372	CD320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:7240710	20180130	OMIM			
12067372	CD320	CD320 molecule	gene	DOID:0060741	methylmalonic acidemia due to transcobalamin receptor defect		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT | ClinVar Annotator: match by term: Methylmalonic acidemia due to transcobalamin receptor defect	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12067372	CD320	CD320 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1352822	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067372	CD320	CD320 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067388	STAB1	stabilin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067388	STAB1	stabilin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067388	STAB1	stabilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067388	STAB1	stabilin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067388	STAB1	stabilin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067388	STAB1	stabilin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067388	STAB1	stabilin 1	gene	DOID:1909	melanoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067388	STAB1	stabilin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067388	STAB1	stabilin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12067388	STAB1	stabilin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067388	STAB1	stabilin 1	gene	DOID:3275	thymoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067388	STAB1	stabilin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067388	STAB1	stabilin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321166	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12067388	STAB1	stabilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321166	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067388	STAB1	stabilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067388	STAB1	stabilin 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1321166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12067388	STAB1	stabilin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067388	STAB1	stabilin 1	gene	DOID:9001887	Hyperferritinemia		ISO	RGD:1321166	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERFERRITINEMIA	
12067388	STAB1	stabilin 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12067388	STAB1	stabilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067388	STAB1	stabilin 1	gene	DOID:9008122	ISOLATED HYPERFERRITINEMIA		ISO	RGD:1321166	D	RGD:7240710	20240529	OMIM			
12067388	STAB1	stabilin 1	gene	DOID:9008122	ISOLATED HYPERFERRITINEMIA		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated hyperferritinemia	PMID:25741868|PMID:37490907
12067388	STAB1	stabilin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067388	STAB1	stabilin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:0060332	mitochondrial complex V (ATP synthase) deficiency nuclear type 3		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATP6V0A4-related condition	PMID:25741868|PMID:26208211|PMID:27247958|PMID:28492532|PMID:29398133|PMID:31738409|PMID:34997822
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss		ISO	RGD:1312856	D	RGD:7240710	20180130	OMIM			
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:0061166	autosomal recessive distal renal tubular acidosis 3 with or without sensorineural hearing loss		ISO	RGD:1312856	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	PMID:10973252|PMID:12414817|PMID:16199547|PMID:16611712|PMID:17576681|PMID:18632794|PMID:22093743|PMID:22854161|PMID:23754897|PMID:24033266|PMID:24252324|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29024829|PMID:29202719|PMID:29311258|PMID:29627839|PMID:29725771|PMID:30076350|PMID:30230413|PMID:31328266|PMID:31589614|PMID:31672324|PMID:31959358|PMID:32613277|PMID:34159584|PMID:34805638|PMID:35738466|PMID:35822476|PMID:35990030|PMID:39382926|PMID:40794449|PMID:9536098
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:10534	stomach cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:10609	rickets		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29202719|PMID:29311258
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:1324	lung cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:13250	diarrhea		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1312857	D	RGD:9068941	20250306	MouseDO		OMIM:179830 | OMIM:267200 | OMIM:602722	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:14219	renal tubular acidosis	susceptibility	ISO	RGD:1312856	D	RGD:9068941	20200609	RGD		DNA:nonsense,deletion,splice-site	PMID:10973252|REF_RGD_ID:1599383
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:1909	melanoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:4362	cervical cancer		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:630	genetic disease		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:40794449
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29202719|PMID:29627839|PMID:34159584|PMID:39382926|PMID:9536098
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9001510	Funnel Chest		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12414817|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719|PMID:30230413|PMID:31589614|PMID:32613277
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9005274	Polyuria		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:25741868
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9006727	Polydipsia		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	PMID:25741868
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1312856	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis | ClinVar Annotator: match by term: distal renal tubular acidosis	PMID:12414817|PMID:16611712|PMID:23754897|PMID:25285676|PMID:25741868|PMID:26787776|PMID:28188436|PMID:28233610|PMID:28492532|PMID:29202719|PMID:29311258|PMID:29725771|PMID:30230413|PMID:31589614|PMID:31672324|PMID:31959358|PMID:32613277|PMID:35822476|PMID:35990030
12067552	ATP6V0A4	ATPase H+ transporting V0 subunit a4	gene	DOID:9007993	Dehydration		ISO	RGD:1312856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:12414817|PMID:18632794|PMID:23754897|PMID:25741868|PMID:28492532|PMID:29202719
12067598	CP	ceruloplasmin	gene	DOID:0050711	aceruloplasminemia		ISO	RGD:736782	D	RGD:7240710	20180130	OMIM			
12067598	CP	ceruloplasmin	gene	DOID:0050711	aceruloplasminemia		ISO	RGD:736782	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: ACERULOPLASMINEMIA | ClinVar Annotator: match by term: Aceruloplasminemia | ClinVar Annotator: match by term: CP-related condition | ClinVar Annotator: match by term: Deficiency of ferroxidase | ClinVar Annotator: match by term: Familial apoceruloplasmin deficiency | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 10 | ClinVar Annotator: match by term: aceruloplasminemia	PMID:10997552|PMID:11909923|PMID:12351628|PMID:15082597|PMID:15557511|PMID:15885371|PMID:16150804|PMID:16199547|PMID:16629161|PMID:16775387|PMID:16831606|PMID:17013908|PMID:17576681|PMID:17710675|PMID:18293024|PMID:18408989|PMID:18414213|PMID:18675357|PMID:19095659|PMID:20301666|PMID:20655381|PMID:20981230|PMID:25247888|PMID:25741868|PMID:25758665|PMID:25864092|PMID:26777753|PMID:27753142|PMID:28012953|PMID:28431603|PMID:28492532|PMID:29482220|PMID:30901137|PMID:32019516|PMID:32235485|PMID:33513852|PMID:33774058|PMID:34023349|PMID:34347207|PMID:34828384|PMID:36595688|PMID:36686537|PMID:37024536|PMID:7539672|PMID:8789443|PMID:9536098
12067598	CP	ceruloplasmin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736782	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12067598	CP	ceruloplasmin	gene	DOID:0080855	Parkinsonism		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	PMID:12351628|PMID:16629161|PMID:16775387|PMID:18408989|PMID:19095659|PMID:20655381|PMID:25089372|PMID:25741868|PMID:28012953|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34014900|PMID:34347207|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance | ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:10591	pre-eclampsia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679377
12067598	CP	ceruloplasmin	gene	DOID:11252	microcytic anemia		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:16199547|PMID:16629161|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34347207
12067598	CP	ceruloplasmin	gene	DOID:114	heart disease		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19188839|REF_RGD_ID:2314687
12067598	CP	ceruloplasmin	gene	DOID:12119	hemosiderosis	susceptibility	ISO	RGD:736782	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:7539672|REF_RGD_ID:1599626
12067598	CP	ceruloplasmin	gene	DOID:12849	autistic disorder		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15363659
12067598	CP	ceruloplasmin	gene	DOID:1307	dementia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
12067598	CP	ceruloplasmin	gene	DOID:1324	lung cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067598	CP	ceruloplasmin	gene	DOID:13580	cholestasis		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:29523470|REF_RGD_ID:14401716
12067598	CP	ceruloplasmin	gene	DOID:14330	Parkinson's disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159062|PMID:25758665
12067598	CP	ceruloplasmin	gene	DOID:1596	depressive disorder		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:1838	Menkes disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965
12067598	CP	ceruloplasmin	gene	DOID:1909	melanoma		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
12067598	CP	ceruloplasmin	gene	DOID:2030	anxiety disorder		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:2316	brain ischemia		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex, hippocampus	PMID:18273071|REF_RGD_ID:2314688
12067598	CP	ceruloplasmin	gene	DOID:2351	iron metabolism disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16988052
12067598	CP	ceruloplasmin	gene	DOID:2352	hemochromatosis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17258727
12067598	CP	ceruloplasmin	gene	DOID:3021	acute kidney failure		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
12067598	CP	ceruloplasmin	gene	DOID:3070	high grade glioma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:326	ischemia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15668637|PMID:18091701
12067598	CP	ceruloplasmin	gene	DOID:3275	thymoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:418	systemic scleroderma		ISO	RGD:736782	D	RGD:9068941	20230923	RGD		protein:increased expression:serum	PMID:32630589|REF_RGD_ID:401827129
12067598	CP	ceruloplasmin	gene	DOID:4362	cervical cancer		ISO	RGD:736782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:4724	brain edema		ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:16671455|REF_RGD_ID:1599627
12067598	CP	ceruloplasmin	gene	DOID:480	movement disease		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:5041	esophageal cancer		ISO	RGD:736782	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:5082	liver cirrhosis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513|PMID:26396155
12067598	CP	ceruloplasmin	gene	DOID:5113	nutritional deficiency disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514262
12067598	CP	ceruloplasmin	gene	DOID:5419	schizophrenia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16842975
12067598	CP	ceruloplasmin	gene	DOID:543	dystonia		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16629161|PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067598	CP	ceruloplasmin	gene	DOID:630	genetic disease		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067598	CP	ceruloplasmin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26001728
12067598	CP	ceruloplasmin	gene	DOID:7998	hyperthyroidism		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18210749|REF_RGD_ID:2314689
12067598	CP	ceruloplasmin	gene	DOID:8466	retinal degeneration		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
12067598	CP	ceruloplasmin	gene	DOID:8893	psoriasis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12559600
12067598	CP	ceruloplasmin	gene	DOID:893	Wilson disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22243965|PMID:23519153|PMID:7849148
12067598	CP	ceruloplasmin	gene	DOID:893	Wilson disease		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:18556333|REF_RGD_ID:14401715
12067598	CP	ceruloplasmin	gene	DOID:893	Wilson disease	treatment	ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:15511628|REF_RGD_ID:1554300
12067598	CP	ceruloplasmin	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9000495	Tremor		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		protein:increased expression:lymph, plasma	PMID:19526092|REF_RGD_ID:2314684
12067598	CP	ceruloplasmin	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9001542	Albuminuria		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21752484
12067598	CP	ceruloplasmin	gene	DOID:9001581	Constipation		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
12067598	CP	ceruloplasmin	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:736782	D	RGD:9068941	20230923	RGD		associated with systemic scleroderma;protein:increased expression:serum	PMID:32630589|REF_RGD_ID:401827129
12067598	CP	ceruloplasmin	gene	DOID:9002362	Hyperkinesis		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2387	D	RGD:9068941	20200609	RGD			PMID:19205849|REF_RGD_ID:2314686
12067598	CP	ceruloplasmin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330884
12067598	CP	ceruloplasmin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
12067598	CP	ceruloplasmin	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18804145
12067598	CP	ceruloplasmin	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868|PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thyroid gland	PMID:19298605|REF_RGD_ID:2314685
12067598	CP	ceruloplasmin	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9004866	Ataxia		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
12067598	CP	ceruloplasmin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:28492532
12067598	CP	ceruloplasmin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2387	D	RGD:9068941	20200609	RGD		Protein:increased expression:plasma	PMID:16947119|REF_RGD_ID:1599198
12067598	CP	ceruloplasmin	gene	DOID:9005725	Iron Overload		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20801540
12067598	CP	ceruloplasmin	gene	DOID:9006617	Fatigue		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
12067598	CP	ceruloplasmin	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:16629161|PMID:16775387|PMID:20655381|PMID:25741868|PMID:28492532|PMID:32235485|PMID:36595688
12067598	CP	ceruloplasmin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067598	CP	ceruloplasmin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12067598	CP	ceruloplasmin	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12067598	CP	ceruloplasmin	gene	DOID:9008675	Dyskinesias		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12572680
12067598	CP	ceruloplasmin	gene	DOID:9008746	Pasteurellaceae Infections		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755360
12067598	CP	ceruloplasmin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067598	CP	ceruloplasmin	gene	DOID:9351	diabetes mellitus		ISO	RGD:736782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:16199547|PMID:16629161|PMID:28492532|PMID:30901137|PMID:32235485|PMID:34347207
12067598	CP	ceruloplasmin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19834873|REF_RGD_ID:2314681
12067598	CP	ceruloplasmin	gene	DOID:936	brain disease		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19005224
12067598	CP	ceruloplasmin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20012460
12067598	CP	ceruloplasmin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736782	D	RGD:9068941	20200609	RGD			PMID:17603912|REF_RGD_ID:2314682
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:733979	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:30311386
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:0110567	autosomal dominant nonsyndromic deafness 41		ISO	RGD:733979	D	RGD:7240710	20180130	OMIM			
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:0110567	autosomal dominant nonsyndromic deafness 41		ISO	RGD:733979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 41 | ClinVar Annotator: match by term: Deafness, autosomal dominant 41 | ClinVar Annotator: match by term: P2RX2-related condition	PMID:23345450|PMID:24033266|PMID:24211385|PMID:25741868|PMID:25788561|PMID:26467025|PMID:28492532|PMID:30311386|PMID:31593348|PMID:31636190|PMID:39258340
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733979	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:28492532|PMID:30311386|PMID:34652575
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:1115	sarcoma		ISO	RGD:733979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:1324	lung cancer		ISO	RGD:733979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:1826	epilepsy		ISO	RGD:733979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12941474
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:4362	cervical cancer		ISO	RGD:733979	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733979	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19383439
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12067632	P2RX2	purinergic receptor P2X 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:1115	sarcoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067666	TBC1D8	TBC1 domain family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia		ISO	RGD:1315126	D	RGD:7240710	20191106	OMIM			
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GALACTOSEMIA I | ClinVar Annotator: match by term: GALT-related condition | ClinVar Annotator: match by term: Galactosemia, classic	PMID:10070616|PMID:10408771|PMID:10424825|PMID:10573007|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:12595586|PMID:14518827|PMID:15841485|PMID:1610789|PMID:19224951|PMID:19418241|PMID:19581158|PMID:20008339|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22461411|PMID:22743281|PMID:22944367|PMID:22963887|PMID:23690308|PMID:23924834|PMID:24718839|PMID:25087612|PMID:25473725|PMID:25592817|PMID:25614870|PMID:25741868|PMID:25814382|PMID:27005423|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30172461|PMID:30275481|PMID:31954591|PMID:33636947|PMID:36515074|PMID:4759900|PMID:7550229|PMID:7887417|PMID:8198125|PMID:8551426|PMID:8892021|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:0111459	classic galactosemia	treatment	ISO	XCO:0001791	D	RGD:9068941	20260409	RGD			PMID:41239942|REF_RGD_ID:632518416
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:13608	biliary atresia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Biliary atresia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:2340	craniosynostosis		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: craniosynostosis	PMID:25741868
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:2355	anemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:4724	brain edema		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral edema	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:17876724|PMID:22461411|PMID:25741868|PMID:28492532
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10070616|PMID:10408771|PMID:10424825|PMID:10884393|PMID:10960497|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:1373122|PMID:14518827|PMID:15841485|PMID:15986423|PMID:1610789|PMID:17221873|PMID:19224951|PMID:19418241|PMID:19581158|PMID:2011574|PMID:20301691|PMID:21228398|PMID:22461411|PMID:22944367|PMID:22963887|PMID:23151865|PMID:24718839|PMID:25087612|PMID:25268296|PMID:25473725|PMID:25592817|PMID:25614870|PMID:25741868|PMID:25936995|PMID:27176039|PMID:28065439|PMID:28492532|PMID:30718057|PMID:31954591|PMID:38469090|PMID:4759900|PMID:7887417|PMID:8198125|PMID:8551426|PMID:8892021|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:83	cataract		ISO	RGD:1306483	D	RGD:9068941	20260409	RGD		associated with classic galactosemia;	PMID:31845342|REF_RGD_ID:632518410
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:83	cataract	ameliorates	ISO	RGD:1315126	D	RGD:9068941	20260328	RGD			PMID:34964137|REF_RGD_ID:632518412
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9002802	Acidoses		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9004657	Weight Gain	ameliorates	ISO	RGD:1315126	D	RGD:9068941	20260328	RGD			PMID:34964137|REF_RGD_ID:632518412
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9004898	Jaundice		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9006095	Ascites		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9007874	Liver Failure		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9008617	Lethargy		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9870	galactosemia		ISO	RGD:1315126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | ClinVar Annotator: match by term: Galactose intolerance | ClinVar Annotator: match by term: Galactosemia	PMID:10070616|PMID:10220154|PMID:10384398|PMID:10399107|PMID:10408771|PMID:10424825|PMID:10439960|PMID:10529216|PMID:10535394|PMID:10573007|PMID:10649501|PMID:10884393|PMID:10952646|PMID:10960497|PMID:11092512|PMID:11113841|PMID:11152465|PMID:11216901|PMID:11261429|PMID:11286505|PMID:11397328|PMID:11511927|PMID:11592823|PMID:11678552|PMID:11754113|PMID:11919338|PMID:12208137|PMID:12350230|PMID:12552079|PMID:12595586|PMID:12872845|PMID:1301925|PMID:1373122|PMID:1427861|PMID:14518827|PMID:14728988|PMID:15172000|PMID:15633893|PMID:15749517|PMID:15775761|PMID:15841485|PMID:15986423|PMID:1610789|PMID:16167124|PMID:16199547|PMID:16540753|PMID:16765930|PMID:17041746|PMID:17079880|PMID:17143577|PMID:17221873|PMID:17486650|PMID:17576681|PMID:17876724|PMID:17884932|PMID:17957157|PMID:18207281|PMID:18210213|PMID:18684449|PMID:18956253|PMID:1897530|PMID:19181333|PMID:19224951|PMID:19375122|PMID:19418241|PMID:19581158|PMID:19904210|PMID:20008339|PMID:20100763|PMID:2011574|PMID:20151200|PMID:20213376|PMID:20301691|PMID:20348403|PMID:20351709|PMID:20547145|PMID:20663501|PMID:20863731|PMID:21150919|PMID:21228398|PMID:21501963|PMID:21779791|PMID:2233247|PMID:22461411|PMID:22743281|PMID:22870861|PMID:22944367|PMID:22963887|PMID:22975760|PMID:23022339|PMID:23151865|PMID:23319291|PMID:23418865|PMID:23430559|PMID:23583749|PMID:23690308|PMID:23749220|PMID:23924834|PMID:24045215|PMID:24718839|PMID:24973740|PMID:25052314|PMID:25087612|PMID:25124065|PMID:25268296|PMID:25473725|PMID:25525159|PMID:25592817|PMID:25614870|PMID:25622686|PMID:25741868|PMID:25814382|PMID:25936995|PMID:26274329|PMID:26565537|PMID:26733289|PMID:26783274|PMID:27005423|PMID:27176039|PMID:27308838|PMID:27363831|PMID:27415407|PMID:27578510|PMID:27603904|PMID:27629047|PMID:27878435|PMID:28065439|PMID:28173647|PMID:28374897|PMID:28391442|PMID:28492532|PMID:28644047|PMID:28649529|PMID:29252199|PMID:29261178|PMID:29350350|PMID:29653003|PMID:29892033|PMID:30143026|PMID:30172461|PMID:30231941|PMID:30275481|PMID:30718057|PMID:30808388|PMID:30987402|PMID:30994193|PMID:31042289|PMID:31194252|PMID:31194682|PMID:31194895|PMID:31358168|PMID:31392114|PMID:31589614|PMID:31637888|PMID:31845337|PMID:31954591|PMID:31980526|PMID:32072977|PMID:32903656|PMID:32954279|PMID:33101984|PMID:33113773|PMID:33335841|PMID:33636947|PMID:34030713|PMID:34233069|PMID:34302356|PMID:34440436|PMID:35118398|PMID:35464534|PMID:35665479|PMID:35677809|PMID:36399011|PMID:36468010|PMID:36515074|PMID:36703223|PMID:36732629|PMID:37563963|PMID:37776278|PMID:38090149|PMID:38139222|PMID:38262132|PMID:38444572|PMID:38469090|PMID:38761847|PMID:38778342|PMID:39143820|PMID:39440457|PMID:40233430|PMID:40513497|PMID:41083167|PMID:4759900|PMID:7550229|PMID:7573066|PMID:7671959|PMID:7887416|PMID:7887417|PMID:8051928|PMID:8198125|PMID:8499924|PMID:8522334|PMID:8551426|PMID:8598637|PMID:8692963|PMID:8741038|PMID:8892021|PMID:8956044|PMID:9012409|PMID:9202622|PMID:9222760|PMID:9323558|PMID:9396569|PMID:9450900|PMID:9536098|PMID:9635294|PMID:9686364|PMID:9766850
12067691	GALT	galactose-1-phosphate uridylyltransferase	gene	DOID:9993	hypoglycemia		ISO	RGD:1315126	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:10070616|PMID:10408771|PMID:10884393|PMID:11152465|PMID:11511927|PMID:11592823|PMID:11754113|PMID:12208137|PMID:12350230|PMID:15841485|PMID:1610789|PMID:19418241|PMID:20301691|PMID:22461411|PMID:22944367|PMID:25614870|PMID:25741868|PMID:27176039|PMID:28065439|PMID:28492532|PMID:31954591|PMID:7887417|PMID:8198125|PMID:8551426|PMID:9202622|PMID:9323558|PMID:9635294
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:0050741	alcohol dependence	severity	ISO	RGD:731929	D	RGD:9068941	20241031	RGD		DNA:SNP:5'utr: T137346C (human)	PMID:14675807|REF_RGD_ID:408345249
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:731929	D	RGD:9068941	20241031	RGD		DNA:SNP:5'utr: -93A>G (rs45490695) (human)	PMID:18849153|REF_RGD_ID:408345238
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731929	D	RGD:9068941	20200609	RGD			PMID:14999081|REF_RGD_ID:1358600
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731929	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex, soluble fraction (human)	PMID:15708437|REF_RGD_ID:1358602
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:2841	asthma		ISO	RGD:731929	D	RGD:9068941	20260129	RGD		DNA:SNPs:promoter, exon: -93A>G (rs17515827), 894T>G (rs6916861)	PMID:17703099|REF_RGD_ID:632517857
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:731930	D	RGD:9068941	20240425	MouseDO			
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2641	D	RGD:9068941	20200609	RGD		protein:increased expression:forebrain, postsynaptic density	PMID:11226670|REF_RGD_ID:5147998
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:37	skin disease		ISO	RGD:731930	D	RGD:9068941	20240425	MouseDO			
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30658076
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:5419	schizophrenia		ISO	RGD:731929	D	RGD:9068941	20200609	RGD			PMID:12670706|REF_RGD_ID:1358593
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:731929	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9003805	Catalepsy		ISO	RGD:731929	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16407246
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9004484	Sepsis		ISO	RGD:2641	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, decreased activity:T cell (rat)	PMID:9551931|REF_RGD_ID:2324866
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9005111	morphine withdrawal syndrome	ameliorates	ISO	RGD:731930	D	RGD:9068941	20250130	RGD			PMID:28818835|REF_RGD_ID:597538594
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9005632	Cocaine-Related Disorders	ameliorates	ISO	RGD:731930	D	RGD:9068941	20241031	RGD			PMID:35185557|REF_RGD_ID:408345254
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9007730	Burns		ISO	RGD:2641	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, decreased activity:T cell (rat)	PMID:12353920|REF_RGD_ID:2324864
12067709	FYN	FYN proto-oncogene, Src family tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:731346	D	RGD:9068941	20251108	RGD		mRNA:increased expression:lung (mouse)	PMID:31249813|REF_RGD_ID:39938856
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:731346	D	RGD:9068941	20201015	RGD		mRNA:increased expression:lung (mouse)	PMID:20385761|REF_RGD_ID:39938865
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:26914138|REF_RGD_ID:11529541
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050211	swine influenza		ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24799604|REF_RGD_ID:39939082
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050211	swine influenza	disease_progression	ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:23785507|REF_RGD_ID:39939079
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1346818	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35687267
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346818	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:731346	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:11263	chlamydia	treatment	ISO	RGD:1346818	D	RGD:9068941	20200807	RGD			PMID:30832593|REF_RGD_ID:38455984
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:12205	dengue disease	treatment	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD			PMID:31821895|REF_RGD_ID:39939074
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:12385	shigellosis	treatment	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:30615126|REF_RGD_ID:39938959
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:731346	D	RGD:9068941	20201029	RGD		mRNA, protein:decreased expression, decreased activity:lung,plasmacytoid dendritic cell (mouse)	PMID:27992577|REF_RGD_ID:39939072
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		protein:increased activity, increased expression:plasma, heart (human)	PMID:21765346|REF_RGD_ID:39939075
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:1909	melanoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:2122	pneumonic tularemia		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:20385761|REF_RGD_ID:39938865
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:23853597|REF_RGD_ID:39938863
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:289	endometriosis		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1346818	D	RGD:9068941	20201029	RGD			PMID:32369456|REF_RGD_ID:39939073
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:3275	thymoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		associated with pulmonary tuberculosis;protein:increased expression:blood (human)	PMID:32369456|REF_RGD_ID:39939073
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:646	viral encephalitis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:30770561|REF_RGD_ID:39939045
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:26914138|REF_RGD_ID:11529541
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24844751|REF_RGD_ID:39939118
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:31416389|REF_RGD_ID:39939047
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:28465467|REF_RGD_ID:39939037
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:731346	D	RGD:9068941	20201023	RGD		protein:increased expression:serum (mouse)	PMID:28465467|REF_RGD_ID:39939037
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731346	D	RGD:9068941	20201029	RGD		associated with Pneumococcal Meningitis	PMID:24844751|REF_RGD_ID:39939118
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1346818	D	RGD:9068941	20201029	RGD		mRNA, protein:increased expression, increased activity:monocytes,myeloid dendritic cells,serum (human)	PMID:25605587|REF_RGD_ID:39939081
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:731346	D	RGD:9068941	20201015	RGD			PMID:25114116|REF_RGD_ID:39938864
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:25278421|REF_RGD_ID:39939031
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27020609
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005099	Salmonella Infections, Animal	susceptibility	ISO	RGD:731346	D	RGD:9068941	20201022	RGD			PMID:24930766|REF_RGD_ID:39939032
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:731346	D	RGD:9068941	20201023	RGD			PMID:31231617|REF_RGD_ID:39939039
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005372	Inflammation		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:731346	D	RGD:9068941	20201029	RGD			PMID:24930766|PMID:28077574|REF_RGD_ID:39939032|REF_RGD_ID:39939117
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346818	D	RGD:9068941	20201022	RGD		protein:increased expression:serum (human)	PMID:28465467|REF_RGD_ID:39939037
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9123	eczema herpeticum	severity	ISO	RGD:1346818	D	RGD:9068941	20201022	RGD		associated with atopic dermatitis; protein:increased activity:serum (human)	PMID:26198597|REF_RGD_ID:11528429
12067734	IDO1	indoleamine 2,3-dioxygenase 1	gene	DOID:9970	obesity		ISO	RGD:1346818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27020609
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067748	ITIH1	inter-alpha-trypsin inhibitor heavy chain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1314518	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114358
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1553020	D	RGD:9068941	20220825	MouseDO		OMIM:203300	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1318559	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2	PMID:28492532
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:7240710	20190315	OMIM			
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:0061300	Hermansky-Pudlak syndrome 10		ISO	RGD:1318559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP3D1-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 10	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1115	sarcoma		ISO	RGD:1318559	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1324	lung cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:1909	melanoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1553020	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1318559	D	RGD:9068941	20250410	CTD		CTD Direct Evidence: marker/mechanism	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:630	genetic disease		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9001386	Albinism		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9003417	Menorrhagia		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Menorrhagia	PMID:28492532
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
12067778	AP3D1	adaptor related protein complex 3 subunit delta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:3275	thymoma		ISO	RGD:1605116	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067818	RRP1	ribosomal RNA processing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067835	ROPN1L	rhophilin associated tail protein 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067835	ROPN1L	rhophilin associated tail protein 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1319640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067835	ROPN1L	rhophilin associated tail protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1344907	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
12067850	UHMK1	U2AF homology motif kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:7240710	20201216	OMIM			
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0081430	intellectual developmental disorder with autistic features and language delay, with or without seizures		ISO	RGD:1603312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES | ClinVar Annotator: match by term: Intellectual developmental disorder with autistic features and language delay, with or without seizures | ClinVar Annotator: match by term: TANC2-related condition	PMID:25741868|PMID:28492532|PMID:28754924|PMID:31616000|PMID:33875846|PMID:35599849|PMID:40110879
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:0090129	carnitine palmitoyltransferase I deficiency		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carnitine palmitoyl transferase 1A deficiency	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603312	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:25741868|PMID:28754924|PMID:30021165|PMID:31616000
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:11830	myopia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:25741868|PMID:29070031
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1603312	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28191890|PMID:28490743|PMID:28518168|PMID:32461654|PMID:34615535
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:29070031
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9007776	Hemianopsia		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bitemporal hemianopia	PMID:25741868
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031|PMID:31616000
12067864	TANC2	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29070031
12067907	COASY	Coenzyme A synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:0070297	primary microcephaly		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:0110488	autosomal recessive nonsyndromic deafness 3		ISO	RGD:1354088	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3	PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1354088	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation | ClinVar Annotator: match by term: neurodegeneration with brain iron accumulation	PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:33644862
12067907	COASY	Coenzyme A synthase	gene	DOID:0110736	neurodegeneration with brain iron accumulation 2B		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2B	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:0110740	neurodegeneration with brain iron accumulation 6		ISO	RGD:1354088	D	RGD:7240710	20180130	OMIM			
12067907	COASY	Coenzyme A synthase	gene	DOID:0110740	neurodegeneration with brain iron accumulation 6		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COASY protein-associated neurodegeneration | ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6	PMID:17576681|PMID:21264299|PMID:24360804|PMID:25741868|PMID:27021474|PMID:28106320|PMID:28357284|PMID:28489334|PMID:28492532|PMID:28688840|PMID:30089828|PMID:31130284|PMID:33644862|PMID:35499143|PMID:38413569|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:0112327	pontocerebellar hypoplasia type 12		ISO	RGD:1354088	D	RGD:7240710	20190315	OMIM			
12067907	COASY	Coenzyme A synthase	gene	DOID:0112327	pontocerebellar hypoplasia type 12		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COASY-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 12	PMID:17576681|PMID:24360804|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:36495139|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1354088	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067907	COASY	Coenzyme A synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067907	COASY	Coenzyme A synthase	gene	DOID:12801	mucopolysaccharidosis III	susceptibility	ISO	RGD:1354088	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation, splice-site mutation, missense mutations:multiple	PMID:11153910|REF_RGD_ID:1642057
12067907	COASY	Coenzyme A synthase	gene	DOID:12849	autistic disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:1459	hypothyroidism		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:1596	depressive disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:1826	epilepsy		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30089828|PMID:35499143|PMID:9536098
12067907	COASY	Coenzyme A synthase	gene	DOID:1909	melanoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:2030	anxiety disorder		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:3087	gingivitis		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:3275	thymoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12067907	COASY	Coenzyme A synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067907	COASY	Coenzyme A synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067907	COASY	Coenzyme A synthase	gene	DOID:6039	uveal melanoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9001733	Tinnitus		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9002543	Myopathy with Abnormal Lipid Metabolism		ISO	RGD:1354088	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Lipid storage myopathy	PMID:28492532|PMID:38413569
12067907	COASY	Coenzyme A synthase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9003507	Premature Birth		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9003539	Hyperacusis		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9005077	Joint Instability		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354088	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067907	COASY	Coenzyme A synthase	gene	DOID:9007356	Eczema		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9007736	Vertigo		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
12067907	COASY	Coenzyme A synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067907	COASY	Coenzyme A synthase	gene	DOID:9256	colorectal cancer		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12067907	COASY	Coenzyme A synthase	gene	DOID:9834	hyperopia		ISO	RGD:1354088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12067927	CDC6	cell division cycle 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067927	CDC6	cell division cycle 6	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1319341	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358632
12067927	CDC6	cell division cycle 6	gene	DOID:0080516	Meier-Gorlin syndrome 5		ISO	RGD:1319341	D	RGD:7240710	20190424	OMIM			
12067927	CDC6	cell division cycle 6	gene	DOID:0080516	Meier-Gorlin syndrome 5		ISO	RGD:1319341	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 5 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5	PMID:25741868|PMID:28492532
12067927	CDC6	cell division cycle 6	gene	DOID:0080600	COVID-19		ISO	RGD:1319341	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12067927	CDC6	cell division cycle 6	gene	DOID:10907	microcephaly		ISO	RGD:1319341	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12067927	CDC6	cell division cycle 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067927	CDC6	cell division cycle 6	gene	DOID:1115	sarcoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067927	CDC6	cell division cycle 6	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1319341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12067927	CDC6	cell division cycle 6	gene	DOID:1909	melanoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067927	CDC6	cell division cycle 6	gene	DOID:3070	high grade glioma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12067927	CDC6	cell division cycle 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12067927	CDC6	cell division cycle 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067927	CDC6	cell division cycle 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067927	CDC6	cell division cycle 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12067927	CDC6	cell division cycle 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12067927	CDC6	cell division cycle 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067927	CDC6	cell division cycle 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067927	CDC6	cell division cycle 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067927	CDC6	cell division cycle 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1319341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736447	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:21864296|REF_RGD_ID:5685671
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0050967	spinocerebellar ataxia 17		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0060478	Zika fever		ISO	RGD:10742	D	RGD:9068941	20200702	RGD		mRNA,protein:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0060496	respiratory allergy		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211530
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:10742	D	RGD:9068941	20200609	RGD			PMID:21937694|REF_RGD_ID:11354915
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:2843	D	RGD:9068941	20240727	RGD		mRNA,protein:increased expression:liver (rat)	PMID:28951310|REF_RGD_ID:407420265
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:736447	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:23777986
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:0090145	dopamine beta-hydroxylase deficiency		ISO	RGD:736447	D	RGD:9068941	20200609	RGD			PMID:21209083|REF_RGD_ID:5685690
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:10320	asbestosis		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25324550
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:10534	stomach cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:1324	lung cancer		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:21094208|REF_RGD_ID:5686293
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25331812|REF_RGD_ID:13782181
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25632565|REF_RGD_ID:11354959
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:3070	high grade glioma		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:21112319|REF_RGD_ID:5685704
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lungs	PMID:22227563|REF_RGD_ID:5685632
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:25707520|REF_RGD_ID:13782175
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:5844	myocardial infarction		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450231
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736447	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial joint	PMID:11315915|REF_RGD_ID:5685639
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		mRNA: increased expression	PMID:21933012|REF_RGD_ID:5685666
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:2843	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex, kidney medulla, liver (rat)	PMID:32416216|REF_RGD_ID:401793731
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		mRNA:increased expression	PMID:21940431|REF_RGD_ID:5685664
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord:	PMID:24463125|REF_RGD_ID:11354961
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney	PMID:19301230|REF_RGD_ID:2311449
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:21927577|REF_RGD_ID:5685668
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:21436843|REF_RGD_ID:5685686
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, experimental (D003921): protein:increased expression:brain	PMID:22075494|REF_RGD_ID:5685650
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200709	RGD		associated with  Crush Injuries	PMID:30465396|REF_RGD_ID:34901874
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9005666	Contrast-Induced Nephropathy	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:27781957|REF_RGD_ID:13782262
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23777986
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:10742	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2843	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus:	PMID:25219120|REF_RGD_ID:11354919
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007456	Female Infertility		ISO	RGD:736447	D	RGD:9068941	20200609	RGD			PMID:22143970|REF_RGD_ID:5685640
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil:	PMID:26464680|REF_RGD_ID:11354914
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2843	D	RGD:9068941	20200609	RGD			PMID:24129401|PMID:25547710|REF_RGD_ID:11354962|REF_RGD_ID:13782178
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:2843	D	RGD:9068941	20200709	RGD		mRNA,protein:increased expression:chondrocyte	PMID:31007149|REF_RGD_ID:34888237
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:10742	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:20957756|REF_RGD_ID:5686342
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:2843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:liver:	PMID:23647685|REF_RGD_ID:11354957
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:10742	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
12067945	HSPA5	heat shock protein family A (Hsp70) member 5	gene	DOID:9970	obesity		ISO	RGD:736447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26655953
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1348930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:26026792|PMID:30143558
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1348930	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1557733	D	RGD:9068941	20230323	MouseDO			
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1348930	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9003676	Brain Hypoxia-Ischemia	exacerbates	ISO	RGD:1566260	D	RGD:9068941	20230330	RGD			PMID:31356825|REF_RGD_ID:242905191
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:7240710	20180130	OMIM			
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:1348930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SRGAP1-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 2 | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 2	PMID:25741868|PMID:28492532
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12067958	SRGAP1	SLIT-ROBO Rho GTPase activating protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:25741868
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN RESISTANCE, SUSCEPTIBILITY TO	PMID:25741868
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9351	diabetes mellitus		ISO	RGD:1343572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:7240710	20190315	OMIM			
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN RESISTANCE, SEVERE, DIGENIC | ClinVar Annotator: match by term: PPP1R3A-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12118251|PMID:25741868
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1343572	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.D905Y (human)	PMID:10868947|PMID:9653600|REF_RGD_ID:2311515|REF_RGD_ID:2311552
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:1343572	D	RGD:9068941	20200609	RGD		DNA:insertion/deletion	PMID:12831406|REF_RGD_ID:2311596
12067986	PPP1R3A	protein phosphatase 1 regulatory subunit 3A	gene	DOID:9993	hypoglycemia		ISO	RGD:1343572	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:insertion/deletion:3' UTR (human)	PMID:9814479|REF_RGD_ID:1601469
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:10534	stomach cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:1115	sarcoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:1324	lung cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:1909	melanoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:4362	cervical cancer		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068004	ADGRD1	adhesion G protein-coupled receptor D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:10534	stomach cancer		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:2394	ovarian cancer		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:3275	thymoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:4362	cervical cancer		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068039	SCNN1D	sodium channel epithelial 1 subunit delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1318210	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12068057	DENND1B	DENN domain containing 1B	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs2786098	PMID:20032318|REF_RGD_ID:632517842
12068057	DENND1B	DENN domain containing 1B	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNPs:intron, intron, 3'utr:rs6691216, rs1421396,rs1421389	PMID:28668455|REF_RGD_ID:631734349
12068057	DENND1B	DENN domain containing 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1318210	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
12068057	DENND1B	DENN domain containing 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1318210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:2841	asthma	severity	ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNP:multiple:multiple	PMID:28668455|REF_RGD_ID:631734349
12068057	DENND1B	DENN domain containing 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1318210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:8778	Crohn's disease		ISO	RGD:1318210	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		associated with asthma; DNA:SNP:multiple:multiple	PMID:28668455|REF_RGD_ID:631734349
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9003219	Invasive Pulmonary Aspergillosis		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs2477077	PMID:24712925|REF_RGD_ID:632517848
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		associated with asthma; DNA:SNP:multiple:multiple	PMID:28668455|REF_RGD_ID:631734349
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1318210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9360	intrinsic asthma		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNPs:intron,3'utr:multiple	PMID:28668455|REF_RGD_ID:631734349
12068057	DENND1B	DENN domain containing 1B	gene	DOID:9415	allergic asthma		ISO	RGD:1318210	D	RGD:9068941	20260129	RGD		DNA:SNP:intron:rs6685897	PMID:28668455|REF_RGD_ID:631734349
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0060260	ptosis		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0061263	lethal congenital contracture syndrome 7		ISO	RGD:734159	D	RGD:7240710	20180130	OMIM			
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0061263	lethal congenital contracture syndrome 7		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CNTNAP1-related condition | ClinVar Annotator: match by term: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 7	PMID:24319099|PMID:25741868|PMID:27668699|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29882456|PMID:31395954|PMID:32328110
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0070680	congenital hypomyelinating neuropathy 3		ISO	RGD:734159	D	RGD:7240710	20190315	OMIM			
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0070680	congenital hypomyelinating neuropathy 3		ISO	RGD:734159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypomyelinating neuropathy, congenital, 3 | ClinVar Annotator: match by term: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 | ClinVar Annotator: match by term: Neuropathy, congenital hypomyelinating, 3	PMID:25741868|PMID:27159321|PMID:27668699|PMID:27782105|PMID:27818385|PMID:28374019|PMID:28492532|PMID:29882456|PMID:31395954|PMID:32214227|PMID:32328110|PMID:32334381|PMID:33148880|PMID:34570182|PMID:35182943|PMID:37862170
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:31680123
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0110195	congenital hypomyelinating neuropathy 1		ISO	RGD:734159	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E	PMID:25741868
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:734159	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:734159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A	PMID:25741868|PMID:28374019|PMID:32214227
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:10907	microcephaly		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954|PMID:32334381|PMID:35182943
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:1389	polyneuropathy		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868|PMID:28492532|PMID:32334381|PMID:35182943
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:255	hemangioma		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734159	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:543	dystonia		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532|PMID:32334381|PMID:35182943
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:630	genetic disease		ISO	RGD:734159	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27668699|PMID:28492532|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:681	progressive bulbar palsy		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulbar palsy	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:8488	polyhydramnios		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:32334381|PMID:35182943
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068083	CNTNAP1	contactin associated protein 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:734159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive ventriculomegaly	PMID:25741868|PMID:27668699|PMID:29882456|PMID:31395954
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604833	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:0051087	developmental and epileptic encephalopathy 115		ISO	RGD:1604833	D	RGD:7240710	20240515	OMIM			
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:0051087	developmental and epileptic encephalopathy 115		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 115	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1604833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:1826	epilepsy		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:5041	esophageal cancer		ISO	RGD:1604833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9009104	NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY		ISO	RGD:1604833	D	RGD:7240710	20240529	OMIM			
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9009104	NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY		ISO	RGD:1604833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY	
12068114	SNF8	SNF8 subunit of ESCRT-II	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:0051064	left ventricular failure	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230518	RGD		associated with Myocardial Ischemia; DNA:SNP:exon 2:34C>T (human)	PMID:15309698|REF_RGD_ID:329412474
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:0080000	muscular disease		ISO	RGD:735799	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11102975|PMID:18380285
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:12849	autistic disorder		ISO	RGD:735799	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25155876|PMID:28492532
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:1324	lung cancer		ISO	RGD:735799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230518	RGD		DNA:SNP:exon 2:34C>T (human)	PMID:11028479|REF_RGD_ID:329349360
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230518	RGD		DNA:SNP:exon:34C>T (human)	PMID:24508110|REF_RGD_ID:329412480
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:735799	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:lung	PMID:34517527|REF_RGD_ID:617256321
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:6000	congestive heart failure	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230511	RGD		DNA:SNP:exon 2:C<T (human)	PMID:15135700|REF_RGD_ID:329349356
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:6000	congestive heart failure	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230518	RGD		DNA:polymorphism::	PMID:10086964|REF_RGD_ID:329349359
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:630	genetic disease		ISO	RGD:735799	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:767	muscular atrophy		ISO	RGD:735799	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10996775
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735799	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B	PMID:25741868
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:735799	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:10996775
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:735799	D	RGD:9068941	20230518	RGD		associated with congestive heart failure; DNA:SNP:exon 2:34C>T (human)	PMID:16875916|REF_RGD_ID:329412475
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9007712	Adenosine Monophosphate Deaminase Deficiency		ISO	RGD:735799	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10996775|PMID:11102975|PMID:1631143
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9008558	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY		ISO	RGD:735799	D	RGD:7240710	20190717	OMIM			
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9008558	MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY		ISO	RGD:735799	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle AMP deaminase deficiency | ClinVar Annotator: match by term: Myoadenylate deaminase deficiency, myopathy due to | ClinVar Annotator: match by term: myopathy due to myoadenylate deaminase deficiency	PMID:10996775|PMID:11102975|PMID:15173240|PMID:16199547|PMID:1631143|PMID:17576681|PMID:24503134|PMID:25741868|PMID:28492532|PMID:31847883|PMID:34077496|PMID:34490048|PMID:9536098
12068126	AMPD1	adenosine monophosphate deaminase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1344595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1344595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068146	NUDCD3	NudC domain containing 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12068147	IL20	interleukin 20	gene	DOID:3021	acute kidney failure		ISO	RGD:1353403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18496552
12068147	IL20	interleukin 20	gene	DOID:4362	cervical cancer		ISO	RGD:1353403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068147	IL20	interleukin 20	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD			PMID:16947773|REF_RGD_ID:5147395
12068147	IL20	interleukin 20	gene	DOID:783	end stage renal disease		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18639518|REF_RGD_ID:5147394
12068147	IL20	interleukin 20	gene	DOID:783	end stage renal disease		ISO	RGD:1583578	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple organs	PMID:18639518|REF_RGD_ID:5147394
12068147	IL20	interleukin 20	gene	DOID:8893	psoriasis		ISO	RGD:1353403	D	RGD:9068941	20200609	RGD		associated with Respiratory Tract Infections;DNA:SNP:enhancer:-1723C>G (rs1713239) (human)	PMID:21109726|REF_RGD_ID:5147391
12068147	IL20	interleukin 20	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1583578	D	RGD:9068941	20200609	RGD			PMID:20722035|REF_RGD_ID:5147393
12068147	IL20	interleukin 20	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
12068159	MCUR1	mitochondrial calcium uniporter regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068159	MCUR1	mitochondrial calcium uniporter regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068159	MCUR1	mitochondrial calcium uniporter regulator 1	gene	DOID:9005189	Vacuolar Myopathy		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: vacuolar myopathy	PMID:25741868
12068159	MCUR1	mitochondrial calcium uniporter regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068159	MCUR1	mitochondrial calcium uniporter regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068176	TMEM97	transmembrane protein 97	gene	DOID:10534	stomach cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068176	TMEM97	transmembrane protein 97	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068176	TMEM97	transmembrane protein 97	gene	DOID:1909	melanoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068176	TMEM97	transmembrane protein 97	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068176	TMEM97	transmembrane protein 97	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068187	CD82	CD82 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068187	CD82	CD82 molecule	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:12497033|REF_RGD_ID:2289404
12068187	CD82	CD82 molecule	gene	DOID:10763	hypertension		ISO	RGD:69070	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thymus	PMID:10321446|REF_RGD_ID:2289422
12068187	CD82	CD82 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068187	CD82	CD82 molecule	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:14706010|REF_RGD_ID:2289401
12068187	CD82	CD82 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1604068	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068187	CD82	CD82 molecule	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		protein:altered localization, decreased expression:ovary	PMID:12079303|REF_RGD_ID:2289405
12068187	CD82	CD82 molecule	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1617636	D	RGD:9068941	20200609	RGD		protein:altered localization, decreased expression:ovary	PMID:12079303|REF_RGD_ID:2289405
12068187	CD82	CD82 molecule	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:69070	D	RGD:9068941	20200609	RGD		protein:altered localization, decreased expression:ovary	PMID:12079303|REF_RGD_ID:2289405
12068187	CD82	CD82 molecule	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD			PMID:17393117|REF_RGD_ID:2289390
12068187	CD82	CD82 molecule	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:1604068	D	RGD:9068941	20200609	RGD			PMID:12684410|REF_RGD_ID:2289403
12068187	CD82	CD82 molecule	gene	DOID:3275	thymoma		ISO	RGD:1604068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068187	CD82	CD82 molecule	gene	DOID:3459	breast carcinoma		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:15958618|REF_RGD_ID:2289398
12068187	CD82	CD82 molecule	gene	DOID:3744	cervical squamous cell carcinoma		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:15642213|REF_RGD_ID:2289399
12068187	CD82	CD82 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1604068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068187	CD82	CD82 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1604068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20075392
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Infiltrating Duct;mRNA:decreased expression:brain	PMID:15592684|REF_RGD_ID:2289400
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;DNA:loss of heterozygosity	PMID:9254900|REF_RGD_ID:2289425
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1604068	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:decreased expression:bone	PMID:12806379|REF_RGD_ID:2289402
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69070	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Hepatocellular;mRNA:decreased expression	PMID:11275982|REF_RGD_ID:2289407
12068187	CD82	CD82 molecule	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:69070	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:decreased expression	PMID:9831222|REF_RGD_ID:68869
12068187	CD82	CD82 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20075392
12068187	CD82	CD82 molecule	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1604068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20075392
12068187	CD82	CD82 molecule	gene	DOID:9007402	Gliosis		ISO	RGD:69070	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:15277499|REF_RGD_ID:2289406
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:10534	stomach cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:1115	sarcoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:1324	lung cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:2394	ovarian cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:3275	thymoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:4362	cervical cancer		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068203	TMEM8B	transmembrane protein 8B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:730941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea	PMID:25741868
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0060320	inguinal hernia		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pituitary:	PMID:9822798|REF_RGD_ID:12904721
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0080222	pseudohypoparathyroidism type 1B		ISO	RGD:730941	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Pseudohypoparathyroidism type 1B	PMID:17595244
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:1059	intellectual disability		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:10763	hypertension		ISO	RGD:737310	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:24760503|REF_RGD_ID:12910115
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:10907	microcephaly		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:11782	astigmatism		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:11830	myopia		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:11836	clubfoot		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:1205	allergic disease		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:1574	alcohol use disorder		ISO	RGD:730941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23977009
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:1824	status epilepticus		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus:	PMID:23129314|REF_RGD_ID:12907502
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:brain:	PMID:17560544|REF_RGD_ID:12907500
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:3125	multiple endocrine neoplasia		ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:26512025|REF_RGD_ID:12904888
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:19352052|REF_RGD_ID:9850083
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:552	pneumonia		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:630	genetic disease		ISO	RGD:730941	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:8252	chronic rhinitis		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Chronic rhinitis	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:25261791|REF_RGD_ID:12907564
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9002231	Fetal Growth Retardation	disease_progression	ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:20637157|REF_RGD_ID:12904883
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:21642627|REF_RGD_ID:12904963
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:myocardia:	PMID:16626506|REF_RGD_ID:12907503
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:730941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18064392
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:621397	D	RGD:9068941	20200609	RGD			PMID:15155262|REF_RGD_ID:12905047
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9004507	Hirsutism		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Arcuate nucleus :	PMID:23965296|REF_RGD_ID:12905048
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9006324	Isolated Growth Hormone Deficiency, Partial		ISO	RGD:730941	D	RGD:7240710	20200122	OMIM			
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9006324	Isolated Growth Hormone Deficiency, Partial		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: GHSR-related condition | ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:21646290|PMID:25557026|PMID:25741868|PMID:26094658|PMID:28492532|PMID:31726455
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:621397	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:myocardia:	PMID:16626506|REF_RGD_ID:12907503
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9007284	Precocious Puberty		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9007303	Idiopathic Short Stature, Autosomal		ISO	RGD:730941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL	
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:730941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:19789204|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:730941	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:14715843|PMID:16511605|PMID:17596538|PMID:17717076|PMID:21084395|PMID:25557026|PMID:25741868|PMID:28492532
12068225	GHSR	growth hormone secretagogue receptor	gene	DOID:9970	obesity		ISO	RGD:730941	D	RGD:9068941	20200609	RGD		DNA:point mutation:exon:F279L	PMID:16511600|REF_RGD_ID:1625270
12068230	TMEM74	transmembrane protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068283	TMEM69	transmembrane protein 69	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068283	TMEM69	transmembrane protein 69	gene	DOID:2394	ovarian cancer		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12068283	TMEM69	transmembrane protein 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068297	FDX1	ferredoxin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068297	FDX1	ferredoxin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12068297	FDX1	ferredoxin 1	gene	DOID:4989	pancreatitis		ISO	RGD:62036	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic acinar cell (rat)	PMID:12709512|REF_RGD_ID:4145666
12068297	FDX1	ferredoxin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068297	FDX1	ferredoxin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:0050885	IMAGe syndrome		ISO	RGD:1322980	D	RGD:7240710	20210113	OMIM			
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:0050885	IMAGe syndrome		ISO	RGD:1322980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMAGE Syndrome | ClinVar Annotator: match by term: IMAGE syndrome | ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies	PMID:17576681|PMID:22634751|PMID:24065356|PMID:24098681|PMID:24313804|PMID:25057881|PMID:25262539|PMID:25614875|PMID:25741868|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31976094|PMID:33076988|PMID:34098225|PMID:9536098
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1322980	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:22064387
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:0080600	COVID-19		ISO	RGD:1322980	D	RGD:9068941	20210115	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:10591	pre-eclampsia		ISO	RGD:1322981	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:1324	lung cancer		ISO	RGD:727892	D	RGD:9068941	20220707	RGD		DNA:hypermethylation:promoter (rat)	PMID:20512841|REF_RGD_ID:152998913
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:727892	D	RGD:9068941	20220707	RGD		protein:decreased expression:lung (rat)	PMID:20512841|REF_RGD_ID:152998913
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1322980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:24065356|PMID:28492532|PMID:31976094|PMID:33076988
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:1612	breast cancer		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:22634751|PMID:28492532|PMID:30374176
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:1909	melanoma		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:2018	hyperinsulinism		ISO	RGD:1322980	D	RGD:9068941	20210115	RGD		DNA:loss of heterozygosity:pancreatic islet	PMID:11723059|REF_RGD_ID:2311334
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:299	adenocarcinoma		ISO	RGD:1322980	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5485	synovial sarcoma		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovial sarcoma	PMID:21447370|PMID:25262539|PMID:26271467|PMID:27993330
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1322980	D	RGD:7240710	20210113	OMIM			
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1322980	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:20503313|PMID:21910219|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:8841187|PMID:9341892|PMID:9536098
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1322980	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: Exomphalos macroglossia gigantism syndrome | ClinVar Annotator: match by term: KCNQ1-related condition	PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:18414213|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22140035|PMID:22634751|PMID:23197429|PMID:24033266|PMID:24065356|PMID:24098681|PMID:24313804|PMID:24624461|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:27436784|PMID:28492532|PMID:28546232|PMID:30374176|PMID:31630891|PMID:31804259|PMID:31976094|PMID:33076988|PMID:33443097|PMID:34065128|PMID:34098225|PMID:34299047|PMID:36315513|PMID:37204857|PMID:8841187|PMID:9311733|PMID:9341892|PMID:9536098
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BECKWITH-WIEDEMANN SYNDROME | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: Exomphalos macroglossia gigantism syndrome	PMID:10323243|PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22140035|PMID:22634751|PMID:23197429|PMID:25262539|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:27436784|PMID:28492532|PMID:30374176|PMID:31804259|PMID:32430359|PMID:33443097|PMID:34065128|PMID:36315513|PMID:37204857|PMID:8841187|PMID:9311733|PMID:9341892|PMID:9536098
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1322980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BECKWITH-WIEDEMANN SYNDROME | ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome | ClinVar Annotator: match by term: EMG Syndrome | ClinVar Annotator: match by term: Exomphalos macroglossia gigantism syndrome | ClinVar Annotator: match by term: KCNQ1-related condition	PMID:10424811|PMID:11106355|PMID:11414765|PMID:15150778|PMID:17576681|PMID:18395877|PMID:19386358|PMID:19843502|PMID:20503313|PMID:21910219|PMID:22140035|PMID:22634751|PMID:23197429|PMID:25262539|PMID:25427884|PMID:25741868|PMID:25861374|PMID:26061650|PMID:26077438|PMID:27436784|PMID:28492532|PMID:30374176|PMID:31804259|PMID:32430359|PMID:33443097|PMID:34065128|PMID:36315513|PMID:37204857|PMID:38822599|PMID:9311733|PMID:9341892|PMID:9536098
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:630	genetic disease		ISO	RGD:1322980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20503313|PMID:22634751|PMID:25741868|PMID:28492532|PMID:30374176
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1322980	D	RGD:9068941	20220707	RGD		protein:decreased expression:liver (human)	PMID:26606000|REF_RGD_ID:11354707
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:727892	D	RGD:9068941	20220708	RGD		protein:increased expression:liver (rat)	PMID:3965145|REF_RGD_ID:152998958
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:727892	D	RGD:9068941	20220707	RGD		protein:decreased expression:liver (rat)	PMID:26606000|REF_RGD_ID:11354707
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:727892	D	RGD:9068941	20220708	RGD		protein:increased expression:liver (rat)	PMID:3965145|REF_RGD_ID:152998958
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:727892	D	RGD:9068941	20220707	RGD		mRNA:increased expression:liver (rat)	PMID:19533683|REF_RGD_ID:2315050
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322980	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:20512841|PMID:21552421
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9007661	Dwarfism		ISO	RGD:1322980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33076988
12068328	CDKN1C	cyclin dependent kinase inhibitor 1C	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322980	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:22064387
12068349	SH2D7	SH2 domain containing 7	gene	DOID:3275	thymoma		ISO	RGD:2923266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068349	SH2D7	SH2 domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2923266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068365	ZFP91	ZFP91 zinc finger protein, atypical E3 ubiquitin ligase	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1354161	D	RGD:9068941	20220331	RGD			PMID:31046116|REF_RGD_ID:151665744
12068365	ZFP91	ZFP91 zinc finger protein, atypical E3 ubiquitin ligase	gene	DOID:9002395	Hypothermia		ISO	RGD:1354161	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: therapeutic	PMID:34942311
12068365	ZFP91	ZFP91 zinc finger protein, atypical E3 ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:628736	D	RGD:9068941	20200609	RGD			PMID:12738986|REF_RGD_ID:727221
12068382	KRT8	keratin 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068382	KRT8	keratin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068382	KRT8	keratin 8	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12068382	KRT8	keratin 8	gene	DOID:10534	stomach cancer		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068382	KRT8	keratin 8	gene	DOID:1883	hepatitis C		ISO	RGD:735536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatitis c virus, susceptibility to	PMID:28492532
12068382	KRT8	keratin 8	gene	DOID:299	adenocarcinoma		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12068382	KRT8	keratin 8	gene	DOID:4362	cervical cancer		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068382	KRT8	keratin 8	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12068382	KRT8	keratin 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12068382	KRT8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20538000
12068382	KRT8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	RGD			PMID:11372009|REF_RGD_ID:1600062
12068382	KRT8	keratin 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver (human)	PMID:15368451|REF_RGD_ID:14401583
12068382	KRT8	keratin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068382	KRT8	keratin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12068382	KRT8	keratin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068382	KRT8	keratin 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12068382	KRT8	keratin 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12068382	KRT8	keratin 8	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:735536	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver (human)	PMID:15368451|REF_RGD_ID:14401583
12068382	KRT8	keratin 8	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20538000
12068382	KRT8	keratin 8	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19409407|PMID:19796649
12068382	KRT8	keratin 8	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12068382	KRT8	keratin 8	gene	DOID:9008691	Liver Injury	susceptibility	ISO	RGD:735536	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S73A (human gene in a mouse model)	PMID:16818723|REF_RGD_ID:14398758
12068382	KRT8	keratin 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20061804
12068395	MIR133A	microRNA mir-133a	gene	DOID:11714	gestational diabetes		ISO	RGD:2325571	D	RGD:9068941	20200609	RGD			PMID:26512955|REF_RGD_ID:11564338
12068395	MIR133A	microRNA mir-133a	gene	DOID:3393	coronary artery disease		ISO	RGD:1352770	D	RGD:9068941	20230202	RGD		miRNA:decreased expression:blood plasma (human)	PMID:25728840|REF_RGD_ID:11056497
12068395	MIR133A	microRNA mir-133a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352770	D	RGD:9068941	20220819	RGD		human cells in mouse model	PMID:30086463|REF_RGD_ID:153344517
12068395	MIR133A	microRNA mir-133a	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352770	D	RGD:9068941	20220819	RGD		mRNA:decreased expression:liver (human)	PMID:30086463|REF_RGD_ID:153344517
12068395	MIR133A	microRNA mir-133a	gene	DOID:9000784	Fibrosis		ISO	RGD:1352770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19893015
12068422	CCNC	cyclin C	gene	DOID:0060058	lymphoma		ISO	RGD:736281	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12068422	CCNC	cyclin C	gene	DOID:9007730	Burns		ISO	RGD:70905	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:16271231|REF_RGD_ID:2315993
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:0050458	juvenile myelomonocytic leukemia	disease_progression	ISO	RGD:737243	D	RGD:9068941	20200609	RGD			PMID:26891149|REF_RGD_ID:14348967
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:737243	D	RGD:9068941	20200609	RGD			PMID:21918680|REF_RGD_ID:14348959
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:0080600	COVID-19		ISO	RGD:737243	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:10534	stomach cancer		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:1115	sarcoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:11446	sciatic neuropathy		ISO	RGD:70988	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:19937403|REF_RGD_ID:14348968
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:2316	brain ischemia		ISO	RGD:70988	D	RGD:9068941	20200609	RGD			PMID:21334414|REF_RGD_ID:14348963
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:3347	osteosarcoma		ISO	RGD:70988	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:osteoblast:	PMID:19825367|REF_RGD_ID:5147850
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:5082	liver cirrhosis		ISO	RGD:70988	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:23925424|REF_RGD_ID:14348971
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:737243	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs756009(human)	PMID:19724895|REF_RGD_ID:14349027
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:70988	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord	PMID:20155814|REF_RGD_ID:14348972
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:70988	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung	PMID:23912647|REF_RGD_ID:14348970
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:9005372	Inflammation		ISO	RGD:70988	D	RGD:9068941	20250206	RGD		mRNA,protein:altered expression:sciatic nerve, dorsal root ganglion	PMID:24623461|REF_RGD_ID:597621554
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737243	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12068442	AKAP12	A-kinase anchoring protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:0080600	COVID-19		ISO	RGD:1345011	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:1115	sarcoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:1909	melanoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:4362	cervical cancer		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068456	PLEKHA1	pleckstrin homology domain containing A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12068480	GPX8	glutathione peroxidase 8 (putative)	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1603792	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12068480	GPX8	glutathione peroxidase 8 (putative)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:1909	melanoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:4362	cervical cancer		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1318914	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068497	OSBPL6	oxysterol binding protein like 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068541	BCL7C	BAF chromatin remodeling complex subunit BCL7C	gene	DOID:9005834	Ependymomas		ISO	RGD:1318207	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
12068551	DYM	dymeclin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068551	DYM	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISO	RGD:1350887	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12068551	DYM	dymeclin	gene	DOID:0060247	Smith-McCort dysplasia		ISO	RGD:1622292	D	RGD:9068941	20260604	MouseDO		OMIM:607326 | OMIM:615222	
12068551	DYM	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:7240710	20221123	OMIM			
12068551	DYM	dymeclin	gene	DOID:0081270	Smith-McCort dysplasia 1		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYM-related condition | ClinVar Annotator: match by term: SMITH-MCCORT DYSPLASIA 1 | ClinVar Annotator: match by term: SMITH-McCORT DYSPLASIA 1 | ClinVar Annotator: match by term: Smith-McCort dysplasia 1	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:7240710	20180130	OMIM			
12068551	DYM	dymeclin	gene	DOID:0111167	Dyggve-Melchior-Clausen disease		ISO	RGD:1350887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYGGVE-MELCHIOR-CLAUSEN DISEASE | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen disease | ClinVar Annotator: match by term: Dyggve-Melchior-Clausen syndrome	PMID:12491225|PMID:12554689|PMID:16199547|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532|PMID:29620724|PMID:38860472
12068551	DYM	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12068551	DYM	dymeclin	gene	DOID:10283	prostate cancer		ISO	RGD:1350887	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12068551	DYM	dymeclin	gene	DOID:10534	stomach cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068551	DYM	dymeclin	gene	DOID:10908	hydrocephalus		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:1324	lung cancer		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068551	DYM	dymeclin	gene	DOID:1909	melanoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068551	DYM	dymeclin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068551	DYM	dymeclin	gene	DOID:5419	schizophrenia		ISO	RGD:1350887	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12068551	DYM	dymeclin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068551	DYM	dymeclin	gene	DOID:630	genetic disease		ISO	RGD:1350887	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12491225|PMID:12554689|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:65	connective tissue disease		ISO	RGD:1350887	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:9003816	Macrocephaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068551	DYM	dymeclin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12491225|PMID:12554689|PMID:16326827|PMID:18996921|PMID:25741868|PMID:28492532
12068551	DYM	dymeclin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068592	MOXD2	monooxygenase DBH like 2	gene	DOID:10763	hypertension		ISO	RGD:1558176	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3814904
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:1324	lung cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:1909	melanoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068617	KCTD15	potassium channel tetramerization domain containing 15	gene	DOID:9970	obesity		ISO	RGD:1313572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19079261
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:10534	stomach cancer		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:1115	sarcoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:1324	lung cancer		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068640	KCNN1	potassium calcium-activated channel subfamily N member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068669	SAFB	scaffold attachment factor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:1115	sarcoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:3275	thymoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:4362	cervical cancer		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068669	SAFB	scaffold attachment factor B	gene	DOID:5041	esophageal cancer		ISO	RGD:733074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068669	SAFB	scaffold attachment factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12068669	SAFB	scaffold attachment factor B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12068669	SAFB	scaffold attachment factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068669	SAFB	scaffold attachment factor B	gene	DOID:9256	colorectal cancer		ISO	RGD:733074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:10534	stomach cancer		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:1059	intellectual disability		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:1115	sarcoma		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:1324	lung cancer		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068696	TMEM132D	transmembrane protein 132D	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1606177	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12068709	KCNH3	potassium voltage-gated channel subfamily H member 3	gene	DOID:10534	stomach cancer		ISO	RGD:733984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068709	KCNH3	potassium voltage-gated channel subfamily H member 3	gene	DOID:1909	melanoma		ISO	RGD:733984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068709	KCNH3	potassium voltage-gated channel subfamily H member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733984	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068709	KCNH3	potassium voltage-gated channel subfamily H member 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12068709	KCNH3	potassium voltage-gated channel subfamily H member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068730	OR13A1	olfactory receptor family 13 subfamily A member 1	gene	DOID:1324	lung cancer		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068730	OR13A1	olfactory receptor family 13 subfamily A member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068730	OR13A1	olfactory receptor family 13 subfamily A member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12068730	OR13A1	olfactory receptor family 13 subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:3275	thymoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068733	TRUB1	TruB pseudouridine synthase family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:1115	sarcoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:1324	lung cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:1909	melanoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:3070	high grade glioma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:3275	thymoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12068745	ECT2	epithelial cell transforming 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068745	ECT2	epithelial cell transforming 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068796	CDCP2	CUB domain containing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068796	CDCP2	CUB domain containing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068796	CDCP2	CUB domain containing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068805	MYBPH	myosin binding protein H	gene	DOID:10763	hypertension		ISO	RGD:620287	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.I?T, p.R?K (rat)	PMID:23460292|REF_RGD_ID:12802369
12068805	MYBPH	myosin binding protein H	gene	DOID:1324	lung cancer		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068805	MYBPH	myosin binding protein H	gene	DOID:1909	melanoma		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068805	MYBPH	myosin binding protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068805	MYBPH	myosin binding protein H	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12068805	MYBPH	myosin binding protein H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068805	MYBPH	myosin binding protein H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068837	DCST2	DC-STAMP domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:1909	melanoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1322557	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:15013800
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:1322557	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:15013800
12068859	TWSG1	twisted gastrulation BMP signaling modulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12068868	TMEM235	transmembrane protein 235	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:4892151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12068868	TMEM235	transmembrane protein 235	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4892151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068868	TMEM235	transmembrane protein 235	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:4892151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:0111850	primary ciliary dyskinesia 36		ISO	RGD:1353450	D	RGD:7240710	20190315	OMIM			
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:0111850	primary ciliary dyskinesia 36		ISO	RGD:1353450	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked | ClinVar Annotator: match by term: DNAAF6-related condition	PMID:25741868|PMID:28492532|PMID:32170493
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:630	genetic disease		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068882	DNAAF6	dynein axonemal assembly factor 6	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1353450	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:30067075
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:10534	stomach cancer		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:1324	lung cancer		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:5041	esophageal cancer		ISO	RGD:732836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12068941	TMPRSS5	transmembrane serine protease 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12068980	CDCA4	cell division cycle associated 4	gene	DOID:1324	lung cancer		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12068980	CDCA4	cell division cycle associated 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12068999	MSANTD2	Myb/SANT DNA binding domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12068999	MSANTD2	Myb/SANT DNA binding domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12068999	MSANTD2	Myb/SANT DNA binding domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12068999	MSANTD2	Myb/SANT DNA binding domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069041	COMMD7	COMM domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069041	COMMD7	COMM domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069041	COMMD7	COMM domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12069041	COMMD7	COMM domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069041	COMMD7	COMM domain containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:17183066|REF_RGD_ID:14696794
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0070225	progressive familial intrahepatic cholestasis 5		ISO	RGD:734103	D	RGD:7240710	20190315	OMIM			
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0070225	progressive familial intrahepatic cholestasis 5		ISO	RGD:734103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 5 | ClinVar Annotator: match by term: NR1H4-related condition	PMID:11030617|PMID:21633855|PMID:25741868|PMID:26888176|PMID:28492532|PMID:31201556
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:734103	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:29142166|PMID:32062620
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:29743187|REF_RGD_ID:14696797
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:23117815|REF_RGD_ID:15045604
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:734104	D	RGD:9068941	20200609	RGD		cholic acid fed FXR-/- mouse	PMID:12971955|REF_RGD_ID:15045573
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:734104	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:exon 9 (mouse)	PMID:23700488|REF_RGD_ID:14701033
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:30257410|REF_RGD_ID:15090799
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:734103	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28774887|REF_RGD_ID:15045601
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:liver (rat) treatment with INT-767	PMID:30038487|REF_RGD_ID:15092090
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:10603	glucose intolerance		ISO	RGD:734103	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:37888683
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis;mRNA:altered expression:liver (rat)	PMID:19418582|REF_RGD_ID:15042868
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:734103	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver (human)	PMID:29968724|REF_RGD_ID:14928336
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:12336	male infertility		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30245210
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis		ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum (rat)	PMID:30077711|REF_RGD_ID:15045597
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis		ISO	RGD:734103	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449|PMID:23178280|PMID:39030772
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis	severity	ISO	RGD:734104	D	RGD:9068941	20200609	RGD		mutant FXR-/- mouse	PMID:12949728|REF_RGD_ID:14701031
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:30061734|PMID:30223280|REF_RGD_ID:15045612|REF_RGD_ID:15092071
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:liver (rat)	PMID:29235094|REF_RGD_ID:15042872
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13580	cholestasis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:14623915|REF_RGD_ID:1625205
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:734103	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:22057115|REF_RGD_ID:14928333
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13619	extrahepatic cholestasis	disease_progression	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:29138817|REF_RGD_ID:15042871
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:29360226|REF_RGD_ID:14995480
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:15644430|REF_RGD_ID:1625202
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:1909	melanoma		ISO	RGD:734103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:1936	atherosclerosis		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30996006
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:409	liver disease		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22130247
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:24255171|REF_RGD_ID:15090822
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:734104	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (mouse)	PMID:19418582|REF_RGD_ID:15042868
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver, kidney (rat)	PMID:30308196|REF_RGD_ID:15042865
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:630	genetic disease		ISO	RGD:734103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:8778	Crohn's disease		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30996006
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:628831	D	RGD:9068941	20200609	RGD		associated with portal hypertension;mRNA;decreased expression;liver (rat)	PMID:24259407|REF_RGD_ID:15045598
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:27993716|REF_RGD_ID:14701034
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:15980055|REF_RGD_ID:1625201
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9001586	Experimental Liver Neoplasms	susceptibility	ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:17283114|REF_RGD_ID:14701032
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23178280
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29142166
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9005372	Inflammation		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29142166
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:15047603|REF_RGD_ID:1625080
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9005749	Necrosis		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30996006
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:734103	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:29142166|PMID:32062620
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23178280|PMID:24091600|PMID:24189133|PMID:29142166|PMID:30556042
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:28827769|REF_RGD_ID:15045609
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12875239
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (rat)	PMID:30068870|REF_RGD_ID:15042870
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:22711662|REF_RGD_ID:14701036
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:628831	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:20573685|PMID:29091898|REF_RGD_ID:14701035|REF_RGD_ID:15090820
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:16557297|REF_RGD_ID:1625076
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9007755	Intestinal Reperfusion Injury	disease_progression	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:23331901|REF_RGD_ID:15042883
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22135065
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:734103	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29142166
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:734104	D	RGD:9068941	20200609	RGD		knockout eliminates treatment effectiveness	PMID:23104131|REF_RGD_ID:14696795
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:734104	D	RGD:9068941	20200609	RGD			PMID:12971955|REF_RGD_ID:15045573
12069057	NR1H4	nuclear receptor subfamily 1 group H member 4	gene	DOID:9970	obesity	disease_progression	ISO	RGD:628831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
12069083	ZNF597	zinc finger protein 597	gene	DOID:1324	lung cancer		ISO	RGD:1351139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069083	ZNF597	zinc finger protein 597	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069083	ZNF597	zinc finger protein 597	gene	DOID:6039	uveal melanoma		ISO	RGD:1351139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:0111083	Fanconi anemia complementation group D2		ISO	RGD:1603367	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group D2	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:23613520|PMID:24728327|PMID:25741868|PMID:25927356|PMID:28492532|PMID:29625052|PMID:30256826|PMID:31586946|PMID:32546565|PMID:32581362|PMID:34308104|PMID:34585473|PMID:36463940|PMID:9536098
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:13636	Fanconi anemia		ISO	RGD:1603367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11239453|PMID:16199547|PMID:16280053|PMID:17436244|PMID:17576681|PMID:23285130|PMID:24728327|PMID:25741868|PMID:25927356|PMID:27041517|PMID:28492532|PMID:29625052|PMID:30250602|PMID:30256826|PMID:31586946|PMID:32546565|PMID:33270637|PMID:34308104|PMID:34585473|PMID:36463940|PMID:36622392|PMID:9536098
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11543633|RGD:11551143|RGD:12889512|RGD:152031749	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12069097	FANCD2OS	FANCD2 opposite strand	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:11544933|RGD:11550818|RGD:11586851|RGD:11591078|RGD:150546128|RGD:152031735|RGD:152031738|RGD:152031742|RGD:152031745|RGD:152031753|RGD:152031755	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12069113	C5H16orf86	chromosome 5 C16orf86 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069113	C5H16orf86	chromosome 5 C16orf86 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:1324	lung cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:811	lipodystrophy		ISO	RGD:1602134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21417348
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1310568	D	RGD:9068941	20200609	RGD			PMID:25281201|REF_RGD_ID:13514043
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069184	PARP2	poly(ADP-ribose) polymerase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0050562	West syndrome		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344693	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0112050	non-syndromic X-linked intellectual disability 63		ISO	RGD:1344693	D	RGD:7240710	20180130	OMIM			
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:0112050	non-syndromic X-linked intellectual disability 63		ISO	RGD:1344693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACSL4-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 63 | ClinVar Annotator: match by term: Mental retardation 63, X-linked	PMID:11889465|PMID:25741868|PMID:28333917
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:1059	intellectual disability		ISO	RGD:1344693	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10854107|PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:10907	microcephaly		ISO	RGD:1344693	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10854107|PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:12849	autistic disorder		ISO	RGD:1344693	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10854107|PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:1596	depressive disorder		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108178
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:1826	epilepsy		ISO	RGD:1344693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11889465|PMID:25741868|PMID:28333917
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:1827	generalized epilepsy		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:1909	melanoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:2234	focal epilepsy		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:3275	thymoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:480	movement disease		ISO	RGD:1344693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11889465|PMID:25741868|PMID:28333917
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:630	genetic disease		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988084
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9005372	Inflammation		ISO	RGD:69401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:14622223|REF_RGD_ID:2315920
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1344693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: speech delay	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344693	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11889465|PMID:25741868|PMID:28333917
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9006976	Erythema		ISO	RGD:1344693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108178
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:25741868
12069204	ACSL4	acyl-CoA synthetase long chain family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069241	LGALS9	galectin 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069241	LGALS9	galectin 9	gene	DOID:10534	stomach cancer		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069241	LGALS9	galectin 9	gene	DOID:10952	nephritis		ISO	RGD:736794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11044214
12069241	LGALS9	galectin 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069241	LGALS9	galectin 9	gene	DOID:1324	lung cancer		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069241	LGALS9	galectin 9	gene	DOID:1826	epilepsy		ISO	RGD:736794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12069241	LGALS9	galectin 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069241	LGALS9	galectin 9	gene	DOID:3070	high grade glioma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12069241	LGALS9	galectin 9	gene	DOID:3275	thymoma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069241	LGALS9	galectin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069241	LGALS9	galectin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069241	LGALS9	galectin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069269	ZNF879	zinc finger protein 879	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3029695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069269	ZNF879	zinc finger protein 879	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3029695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20081860
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:28438623|REF_RGD_ID:126779596
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050860	colorectal adenoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		protein:increased expression:large intestine	PMID:30214616|REF_RGD_ID:126779593
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNP: rs3757441 (human)	PMID:21926398|REF_RGD_ID:126779594
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:24122997|REF_RGD_ID:126779588
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		associated with oral mucosa leukoplakia	PMID:21697275|REF_RGD_ID:126781699
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs, haplotypes: :multiple	PMID:26807327|REF_RGD_ID:126779606
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601954
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:22869879|REF_RGD_ID:10450880
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow, mononuclear cell (human)	PMID:21125401|REF_RGD_ID:10450887
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080188	chronic myelomonocytic leukemia	severity	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:21339759|REF_RGD_ID:10450882
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		protein:increased expression:large intestine	PMID:30214616|REF_RGD_ID:126779593
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1595860	D	RGD:9068941	20200609	RGD			PMID:24351808|REF_RGD_ID:9588320
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080600	COVID-19		ISO	RGD:1312683	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:20601954|PMID:25595890|PMID:27993330
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland (human)	PMID:17134822|REF_RGD_ID:10755355
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:16734726|REF_RGD_ID:126781698
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs: :multiple	PMID:22228224|REF_RGD_ID:126779605
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD			PMID:25595591|REF_RGD_ID:14928319
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:28492532|PMID:9536098
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:127	leiomyoma		ISO	RGD:1595860	D	RGD:9068941	20200609	RGD			PMID:22504913|REF_RGD_ID:9588321
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:1324	lung cancer		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs, haplotype: :rs6950683, rs3757441 (human)	PMID:19901851|REF_RGD_ID:126781717
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21078963|PMID:21190999|PMID:22323599|PMID:25253781|PMID:35101336
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:14731	Weaver syndrome		ISO	RGD:1312683	D	RGD:7240710	20180130	OMIM			
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:14731	Weaver syndrome		ISO	RGD:1312683	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EZH2-related disorder | ClinVar Annotator: match by term: WEAVER SYNDROME | ClinVar Annotator: match by term: Weaver Smith syndrome | ClinVar Annotator: match by term: Weaver syndrome	PMID:17576681|PMID:18414213|PMID:22190405|PMID:23239504|PMID:23865096|PMID:24214728|PMID:25741868|PMID:26380986|PMID:26694085|PMID:28492532|PMID:29244146|PMID:29802153|PMID:31785789|PMID:32243864|PMID:4366187|PMID:9536098
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:1793	pancreatic cancer		ISO	RGD:1595860	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:22222375|REF_RGD_ID:9588324
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:19773751|REF_RGD_ID:126781702
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:2340	craniosynostosis		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26424790
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:289	endometriosis	treatment	ISO	RGD:1595860	D	RGD:9068941	20210416	RGD			PMID:32651901|REF_RGD_ID:126781723
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1312683	D	RGD:9068941	20200609	RGD			PMID:14532106|REF_RGD_ID:9588325
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD			PMID:25595591|REF_RGD_ID:14928319
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3347	osteosarcoma		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14767549
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3347	osteosarcoma		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:26265454|REF_RGD_ID:11532507
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:21165554|PMID:25613619|REF_RGD_ID:126781697|REF_RGD_ID:126781701
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:21539681|PMID:23300840|REF_RGD_ID:126781700|REF_RGD_ID:126781715
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:24097870|REF_RGD_ID:126781716
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNP: :g.148505302C>T (rs887569) (human)	PMID:24179546|REF_RGD_ID:126779604
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4947	cholangiocarcinoma	no_association	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs: :g.148525904C>G, (rs2302427), g.148519011C>T (rs6464926), g.148517456T>G (rs17171119) (human)	PMID:24179546|REF_RGD_ID:126779604
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4971	myelofibrosis		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601953
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4971	myelofibrosis	severity	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		DNA:mutations:exons, introns:multiple (human)	PMID:21921040|REF_RGD_ID:10450870
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4972	myelodysplastic/myeloproliferative neoplasm		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20601953
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:4972	myelodysplastic/myeloproliferative neoplasm		ISO	RGD:1312684	D	RGD:9068941	20200609	RGD			PMID:24218139|REF_RGD_ID:11038772
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1312683	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1312684	D	RGD:9068941	20200609	RGD			PMID:22431509|REF_RGD_ID:10755340
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20221027	RGD		DNA:mutations: :	PMID:33779075|REF_RGD_ID:155630627
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:630	genetic disease		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs: :multiple	PMID:24040354|REF_RGD_ID:126779595
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:707	B-cell lymphoma		ISO	RGD:1312684	D	RGD:9068941	20220825	MouseDO			
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:707	B-cell lymphoma	severity	ISO	RGD:1312684	D	RGD:9068941	20200609	RGD			PMID:23982173|REF_RGD_ID:10755356
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:707	B-cell lymphoma	treatment	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:29456795|REF_RGD_ID:126781726
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		mRNA, protein:increased expression:pleura	PMID:22028491|REF_RGD_ID:126781718
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1312683	D	RGD:9068941	20231214	RGD		mRNA:decreased expression:aorta (human)	PMID:31028191|REF_RGD_ID:401938604
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow mononuclear cells (human)	PMID:27070757|REF_RGD_ID:13782088
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		associated with Down Syndrome;DNA:mutations:multiple (human)	PMID:24056718|REF_RGD_ID:10450890
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1312684	D	RGD:9068941	20210416	RGD			PMID:31160593|REF_RGD_ID:126779602
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		associated with lung non-small cell carcinoma	PMID:24097870|REF_RGD_ID:126781716
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		associated with osteosarcoma	PMID:26265454|REF_RGD_ID:11532507
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		associated with stomach cancer;protein:increased expression:stomach	PMID:20132185|REF_RGD_ID:126779607
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17003774|PMID:17173048|PMID:21903722
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312683	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35442568
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1595860	D	RGD:9068941	20210416	RGD			PMID:27784285|REF_RGD_ID:126781722
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004402	Congenital Upper Extremity Deformities		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26424790
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312683	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1595860	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart	PMID:23727574|REF_RGD_ID:9588322
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9004657	Weight Gain		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30971429
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9005077	Joint Instability		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1595860	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:23508046|REF_RGD_ID:9587808
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9006014	Peritoneal Adhesions		ISO	RGD:1595860	D	RGD:9068941	20210416	RGD		protein:increased expression:peritoneum	PMID:27690696|REF_RGD_ID:126781724
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1312684	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1312683	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29391238
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21903722
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21903722
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow, mononuclear cell (human)	PMID:21125401|REF_RGD_ID:10450887
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1312684	D	RGD:9068941	20200609	RGD			PMID:22677129|REF_RGD_ID:10450874
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1312683	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:multiple (human)	PMID:23099237|REF_RGD_ID:10450876
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:21539681|REF_RGD_ID:126781700
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD			PMID:26871294|REF_RGD_ID:126779590
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNP: :rs3757441 (human)	PMID:21926398|REF_RGD_ID:126779594
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9256	colorectal cancer	no_association	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		DNA:SNPs: :rs2302427, rs41277434, rs6958683 (human)	PMID:21926398|REF_RGD_ID:126779594
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1312683	D	RGD:9068941	20210416	RGD		mRNA, protein:increased expression:ventral nasal meatus	PMID:21300475|REF_RGD_ID:126779603
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9840	esotropia		ISO	RGD:1312683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
12069277	EZH2	enhancer of zeste 2 polycomb repressive complex 2 subunit	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1312684	D	RGD:9068941	20220825	MouseDO		OMIM:247640 | OMIM:613065 | OMIM:613067 | OMIM:615545	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:7240710	20191127	OMIM			
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:0111692	familial adult myoclonic epilepsy 2		ISO	RGD:1316908	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 2	PMID:25741868|PMID:31664034
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1316908	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1316908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12069328	STARD7	StAR related lipid transfer domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069340	SCG5	secretogranin V	gene	DOID:0050902	medulloblastoma		ISO	RGD:731406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17334394
12069340	SCG5	secretogranin V	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:731407	D	RGD:9068941	20220825	MouseDO			
12069340	SCG5	secretogranin V	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18084292
12069340	SCG5	secretogranin V	gene	DOID:9256	colorectal cancer		ISO	RGD:731406	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532|PMID:29804199
12069340	SCG5	secretogranin V	gene	DOID:9256	colorectal cancer		ISO	RGD:731406	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:22561515|PMID:25992589|PMID:26493165|PMID:26947005|PMID:28492532|PMID:29804199
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:0061205	mild variant of maple syrup urine disease		ISO	RGD:1353112	D	RGD:7240710	20251105	OMIM			
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:0061205	mild variant of maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, MILD VARIANT | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:40047138|PMID:9536098
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:1115	sarcoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:3275	thymoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:6000	congestive heart failure		ISO	RGD:1353112	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:9536098
12069352	PPM1K	protein phosphatase, Mg2+/Mn2+ dependent 1K	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1353112	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant | ClinVar Annotator: match by term: PPM1K-related condition	PMID:17576681|PMID:23086801|PMID:25741868|PMID:28492532|PMID:36706222|PMID:9536098
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605943	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:1909	melanoma		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069369	TTLL7	tubulin tyrosine ligase like 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1605943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12069397	GSX2	GS homeobox 2	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1602642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12069397	GSX2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:7240710	20191127	OMIM			
12069397	GSX2	GS homeobox 2	gene	DOID:9007719	Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2		ISO	RGD:1602642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2	
12069402	PLXNA4	plexin A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069402	PLXNA4	plexin A4	gene	DOID:10534	stomach cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069402	PLXNA4	plexin A4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069402	PLXNA4	plexin A4	gene	DOID:1115	sarcoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069402	PLXNA4	plexin A4	gene	DOID:1324	lung cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069402	PLXNA4	plexin A4	gene	DOID:1909	melanoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069402	PLXNA4	plexin A4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069402	PLXNA4	plexin A4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069402	PLXNA4	plexin A4	gene	DOID:4362	cervical cancer		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069402	PLXNA4	plexin A4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12069402	PLXNA4	plexin A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069402	PLXNA4	plexin A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069402	PLXNA4	plexin A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069444	SYT12	synaptotagmin 12	gene	DOID:1324	lung cancer		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069444	SYT12	synaptotagmin 12	gene	DOID:1826	epilepsy		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12069444	SYT12	synaptotagmin 12	gene	DOID:1969	cerebral palsy		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12069444	SYT12	synaptotagmin 12	gene	DOID:480	movement disease		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12069444	SYT12	synaptotagmin 12	gene	DOID:5041	esophageal cancer		ISO	RGD:737534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069444	SYT12	synaptotagmin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069444	SYT12	synaptotagmin 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069444	SYT12	synaptotagmin 12	gene	DOID:7998	hyperthyroidism		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12069444	SYT12	synaptotagmin 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12069444	SYT12	synaptotagmin 12	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12069444	SYT12	synaptotagmin 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12069444	SYT12	synaptotagmin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069444	SYT12	synaptotagmin 12	gene	DOID:9007661	Dwarfism		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12069444	SYT12	synaptotagmin 12	gene	DOID:9834	hyperopia		ISO	RGD:737534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:0051100	hydroxyprolinemia		ISO	RGD:1315565	D	RGD:7240710	20260701	OMIM			
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:0051100	hydroxyprolinemia		ISO	RGD:1315565	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYDROXYPROLINEMIA	
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069456	PRODH2	proline dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315565	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12069476	LIPK	lipase family member K	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12069476	LIPK	lipase family member K	gene	DOID:4362	cervical cancer		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069476	LIPK	lipase family member K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069476	LIPK	lipase family member K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:630	genetic disease		ISO	RGD:1316494	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:9008399	FINCA Syndrome		ISO	RGD:1316494	D	RGD:7240710	20190315	OMIM			
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:9008399	FINCA Syndrome		ISO	RGD:1316494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS | ClinVar Annotator: match by term: Fibrosis, neurodegeneration, and cerebral angiomatosis | ClinVar Annotator: match by term: NHLRC2-related condition	PMID:25741868|PMID:37188825
12069494	NHLRC2	NHL repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069512	TACR2	tachykinin receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736836	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069512	TACR2	tachykinin receptor 2	gene	DOID:0060180	colitis		ISO	RGD:3812	D	RGD:9068941	20200609	RGD			PMID:12490601|PMID:18715640|REF_RGD_ID:2304260|REF_RGD_ID:5147478
12069512	TACR2	tachykinin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:736836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069512	TACR2	tachykinin receptor 2	gene	DOID:1176	bronchial disease		ISO	RGD:736836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15774269
12069512	TACR2	tachykinin receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:736836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069512	TACR2	tachykinin receptor 2	gene	DOID:1909	melanoma		ISO	RGD:736836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069512	TACR2	tachykinin receptor 2	gene	DOID:2841	asthma		ISO	RGD:736836	D	RGD:9068941	20200609	RGD			PMID:19880429|REF_RGD_ID:5147641
12069512	TACR2	tachykinin receptor 2	gene	DOID:2841	asthma		ISO	RGD:736836	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.G231E (human)	PMID:20175803|REF_RGD_ID:5147640
12069512	TACR2	tachykinin receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:736836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069512	TACR2	tachykinin receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736836	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069512	TACR2	tachykinin receptor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3812	D	RGD:9068941	20200609	RGD			PMID:12662901|REF_RGD_ID:5147638
12069512	TACR2	tachykinin receptor 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:3812	D	RGD:9068941	20200609	RGD			PMID:11342967|REF_RGD_ID:5147480
12069512	TACR2	tachykinin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069512	TACR2	tachykinin receptor 2	gene	DOID:9007073	Cough	susceptibility	ISO	RGD:736836	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.G231E (human)	PMID:19583679|REF_RGD_ID:5147627
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:1909	melanoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349052	D	RGD:9068941	20200609	RGD			PMID:26342799|REF_RGD_ID:14398326
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12069519	BLZF1	basic leucine zipper nuclear factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069533	SYT11	synaptotagmin 11	gene	DOID:1115	sarcoma		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069533	SYT11	synaptotagmin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069533	SYT11	synaptotagmin 11	gene	DOID:3275	thymoma		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069533	SYT11	synaptotagmin 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069533	SYT11	synaptotagmin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069533	SYT11	synaptotagmin 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069533	SYT11	synaptotagmin 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343002	D	RGD:9068941	20250724	RGD		mRNA,protein:decreased expression:islet	PMID:22939844|REF_RGD_ID:617256322
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:732909	D	RGD:9068941	20220624	RGD		mRNA:increased expression:blood plasma (human)	PMID:31874165|REF_RGD_ID:152995482
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17942926
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24448315
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2081	D	RGD:9068941	20250529	RGD			PMID:25400560|PMID:25813713|PMID:26168897|REF_RGD_ID:598147069|REF_RGD_ID:598147077|REF_RGD_ID:616363034
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0051061	stroke	disease_progression	ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:19440551|REF_RGD_ID:5509077
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0051064	left ventricular failure		ISO	RGD:732909	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: therapeutic	PMID:39477182
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12556562
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0060319	cardiac arrest		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:20363892|REF_RGD_ID:5509101
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:735336	D	RGD:9068941	20241010	RGD			PMID:28987868|REF_RGD_ID:407574728
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:735336	D	RGD:9068941	20241031	RGD			PMID:35926779|REF_RGD_ID:408345226
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:732909	D	RGD:9068941	20240725	RGD		DNA:SNPs:intron, enhancer: (rs2494732, rs2494752)	PMID:37525829|REF_RGD_ID:407419881
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:2081	D	RGD:9068941	20241010	RGD		associated with Experimental Diabetes Mellitus	PMID:30186875|REF_RGD_ID:14401598
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:735336	D	RGD:9068941	20241024	RGD			PMID:33865013|REF_RGD_ID:407987425
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0081002	Cowden syndrome 6		ISO	RGD:732909	D	RGD:7240710	20180704	OMIM			
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0081002	Cowden syndrome 6		ISO	RGD:732909	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COWDEN SYNDROME 6 | ClinVar Annotator: match by term: Cowden syndrome 6	PMID:16199547|PMID:17576681|PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23134728|PMID:23237847|PMID:23334667|PMID:23348505|PMID:23884910|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28166811|PMID:28459198|PMID:28492532|PMID:28655553|PMID:28726821|PMID:29533785|PMID:31792197|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25658812
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:cholangiocyte	PMID:24498161|REF_RGD_ID:10040950
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:10283	prostate cancer	severity	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' utr, intron: (rs1130214, rs2494738) (human)	PMID:21430300|REF_RGD_ID:5509093
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735336	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:cerebral cortex	PMID:18023354|REF_RGD_ID:5509085
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:10763	hypertension		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:kidney	PMID:23323219|REF_RGD_ID:10041025
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732909	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18190825|REF_RGD_ID:2291891
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1107	esophageal carcinoma	severity	ISO	RGD:732909	D	RGD:9068941	20241024	RGD		DNA:SNPs:introns: (rs3803304, rs1130214)	PMID:19164214|REF_RGD_ID:408345192
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:732909	D	RGD:9068941	20241024	RGD		protein:increased expression:liver	PMID:28089901|REF_RGD_ID:407987426
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1245	vulva cancer	severity	ISO	RGD:732909	D	RGD:9068941	20200924	RGD		associated with Papillomavirus Infections	PMID:22685591|REF_RGD_ID:38676500
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:13482	Proteus syndrome		ISO	RGD:732909	D	RGD:7240710	20180130	OMIM			
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:13482	Proteus syndrome		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GIGANTISM, PARTIAL, OF HANDS AND FEET, NEVI, HEMIHYPERTROPHY, AND MACROCEPHALY | ClinVar Annotator: match by term: Proteus syndrome	PMID:17576681|PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:introns:multiple (human)	PMID:18395980|REF_RGD_ID:5509076
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:altered expression:brain	PMID:19800394|REF_RGD_ID:5509074
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:multiple (human)	PMID:21741444|REF_RGD_ID:5509064
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17611497|PMID:18504432|PMID:18954143|PMID:19802009|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23134728|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1520	colon carcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon carcinoma	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:732909	D	RGD:7240710	20180711	OMIM			
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:732909	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:26619011|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:732909	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic	PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732909	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:pancreas (human)	PMID:20697673|REF_RGD_ID:13450953
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:11595724|REF_RGD_ID:13452388
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20064661
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1875	impotence	treatment	ISO	RGD:2081	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:18054314|REF_RGD_ID:5509083
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:219	colon cancer		ISO	RGD:732909	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:31932471|REF_RGD_ID:152995462
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:219	colon cancer	severity	ISO	RGD:732909	D	RGD:9068941	20220623	RGD		mRNA:increased expression:colon (human)	PMID:31932471|REF_RGD_ID:152995462
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:2081	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2316	brain ischemia		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:cerebral cortex	PMID:21596097|REF_RGD_ID:5509066
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:732909	D	RGD:7240710	20190213	OMIM			
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:17576681|PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:point mutation:cds:p.E17K (human)	PMID:17611497|REF_RGD_ID:1643334
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:732909	D	RGD:9068941	20200609	RGD			PMID:20638364|REF_RGD_ID:13504677
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2559	opiate dependence	sexual_dimorphism	ISO	RGD:2081	D	RGD:9068941	20240704	RGD		mRNA:increased expression:hippocampal formation	PMID:31071414|REF_RGD_ID:405866388
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:732909	D	RGD:9068941	20200924	RGD		DNA:SNP,haplotype:intron: IVS3+18 C/C (human)	PMID:20141546|REF_RGD_ID:38676498
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:732909	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:33129824
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:missense mutation:p.E17K (human)	PMID:18392055|REF_RGD_ID:13209138
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3068	glioblastoma		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:10802656|REF_RGD_ID:734543
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3069	malignant astrocytoma	disease_progression	ISO	RGD:732909	D	RGD:9068941	20200609	RGD			PMID:19240976|REF_RGD_ID:5509079
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3275	thymoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:17576681|PMID:28492532|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :multiple (human)	PMID:20214684|REF_RGD_ID:5509071
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:735336	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:18273716|REF_RGD_ID:5509081
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:18054314|REF_RGD_ID:5509083
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast adenocarcinoma	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3565	meningioma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:732909	D	RGD:9068941	20220630	RGD		protein:increased expression:esophagus (human)	PMID:32642408|REF_RGD_ID:152995512
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:732909	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:32276600|REF_RGD_ID:151357000
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:732909	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:kidney	PMID:17681738|REF_RGD_ID:1643331
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732909	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:2081	D	RGD:9068941	20200609	RGD			PMID:22085202|REF_RGD_ID:10041001
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:14745448|PMID:15982448|PMID:17915974|PMID:21187413
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	RGD			PMID:14745448|REF_RGD_ID:1358369
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	RGD		DNA:SNP, haplotype:intron: (rs2494734) (human)	PMID:20921115|REF_RGD_ID:5509070
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	RGD		DNA:SNPs, haplotype: :multiple	PMID:20214684|REF_RGD_ID:5509071
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	RGD		DNA:SNPs, haplotype:multiple	PMID:17825267|REF_RGD_ID:5509088
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:732909	D	RGD:9068941	20260521	RGD		protein:decreased serine phosphorylation:hippocampus, dentate gyrus, neuron	PMID:21049487|REF_RGD_ID:5509068
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5419	schizophrenia		ISO	RGD:735336	D	RGD:9068941	20260521	MouseDO		OMIM:181500	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:heart	PMID:20352476|REF_RGD_ID:10041035
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:platelet	PMID:20467748|REF_RGD_ID:5509094
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:6032	juvenile type testicular granulosa cell tumor		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile type testicular granulosa cell tumor	PMID:26137586|PMID:26362254|PMID:27993330|PMID:29247016|PMID:35031544|PMID:35440569
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:607	paraplegia		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:soleus	PMID:18236467|REF_RGD_ID:5509082
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:630	genetic disease		ISO	RGD:732909	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:670	amphetamine abuse		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15982448
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:670	amphetamine abuse	no_association	ISO	RGD:732909	D	RGD:9068941	20240725	RGD		DNA:SNPs:introns: (rs2494743, 2498794)	PMID:31654273|REF_RGD_ID:407419880
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:732909	D	RGD:9068941	20240725	RGD		DNA:SNP:intron: (rs3730358)	PMID:15982448|REF_RGD_ID:407419878
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732909	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:732909	D	RGD:9068941	20241107	RGD		mRNA:increased expression:liver	PMID:37460115|REF_RGD_ID:408364960
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2081	D	RGD:9068941	20220520	RGD			PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:7575	pancreatic intraductal papillary-mucinous neoplasm		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E17K (human)	PMID:24132918|REF_RGD_ID:13462042
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:767	muscular atrophy		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18467435
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:blood	PMID:17900686|REF_RGD_ID:13674160
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:8646	substance-induced psychosis		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21041608
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		ductal carcinoma in situ;protein:increased phosphorylation:breast	PMID:16341149|REF_RGD_ID:1643333
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:platelet	PMID:20467748|REF_RGD_ID:5509094
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2081	D	RGD:9068941	20210219	RGD		mRNA, protein:increased expression:retina	PMID:31759996|REF_RGD_ID:41410819
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2081	D	RGD:9068941	20200609	RGD			PMID:20678995|REF_RGD_ID:10040962
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2081	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000310	Lung Injury		ISO	RGD:2081	D	RGD:9068941	20251009	RGD		protein:decreased expression:lung	PMID:26203915|REF_RGD_ID:11343222
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000641	Pain		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17084039
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000784	Fibrosis		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24448315
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:736689	D	RGD:9068941	20200609	RGD			PMID:19124556|REF_RGD_ID:5509080
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain, neuron	PMID:16234845|REF_RGD_ID:5509090
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain, neuron	PMID:16234845|REF_RGD_ID:5509090
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9001049	Staphylococcal Pneumonia	treatment	ISO	RGD:735336	D	RGD:9068941	20200924	RGD			PMID:23613163|REF_RGD_ID:38676477
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735336	D	RGD:9068941	20241024	RGD		protein:increased phosphorylation:liver	PMID:31671832|REF_RGD_ID:407987423
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20530298
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:732909	D	RGD:9068941	20200609	RGD		clear cell sarcoma of kidney;protein:increased serine phosphorylation:kidney	PMID:17646270|REF_RGD_ID:1643332
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732909	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:15682402|PMID:29610475|PMID:33129824
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2081	D	RGD:9068941	20200609	RGD			PMID:22391142|REF_RGD_ID:10041007
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002514	Neointima		ISO	RGD:735336	D	RGD:9068941	20230427	RGD			PMID:25751394|REF_RGD_ID:329328927
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms	PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24448315
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:12237475|REF_RGD_ID:734544
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:21351045|REF_RGD_ID:5509067
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23308213
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21351258
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9004610	Acute Lung Injury	severity	ISO	RGD:735336	D	RGD:9068941	20200924	RGD			PMID:23904165|REF_RGD_ID:38676478
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:2081	D	RGD:9068941	20251009	RGD		protein:decreased expression:lung	PMID:26203915|REF_RGD_ID:11343222
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12511591|PMID:21911043|PMID:22619562
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:17210696|REF_RGD_ID:2315600
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:732909	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005372	Inflammation		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24448315|PMID:26297436
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005372	Inflammation		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:19622728|REF_RGD_ID:5509095
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005372	Inflammation	severity	ISO	RGD:735336	D	RGD:9068941	20200924	RGD		associated with Staphylococcal Infections	PMID:23904165|REF_RGD_ID:38676478
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:cornea	PMID:21330660|REF_RGD_ID:5131482
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:cortex of kidney	PMID:18599524|REF_RGD_ID:8657153
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2081	D	RGD:9068941	20241031	RGD			PMID:29379801|REF_RGD_ID:408346751
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2081	D	RGD:9068941	20200924	RGD			PMID:22824368|REF_RGD_ID:38676479
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006086	Intervertebral Disc Displacement	disease_progression	ISO	RGD:732909	D	RGD:9068941	20200609	RGD			PMID:21590431|REF_RGD_ID:5509092
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2081	D	RGD:9068941	20200609	RGD			PMID:21357504|REF_RGD_ID:10041003
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732909	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:25658812|PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2081	D	RGD:9068941	20250313	RGD			PMID:30221701|REF_RGD_ID:597931096
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006361	Macrocephaly Mesodermal Hamartoma Spectrum		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Elattoproteus syndrome | ClinVar Annotator: match by term: Macrocephaly mesodermal hamartoma spectrum	PMID:17576681|PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:732909	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:735336	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732909	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:24728327|PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732909	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:732909	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: therapeutic	PMID:39477182
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007174	Ventricular Remodeling	treatment	ISO	RGD:2081	D	RGD:9068941	20240725	RGD			PMID:18656339|REF_RGD_ID:407419882
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007702	Carcinogenesis		ISO	RGD:732909	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:heart left ventricle	PMID:20217242|REF_RGD_ID:5509104
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:735336	D	RGD:9068941	20240104	RGD			PMID:29157831|REF_RGD_ID:401940181
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732909	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732909	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms	PMID:17611497|PMID:18256540|PMID:18392055|PMID:18504432|PMID:18611285|PMID:18954143|PMID:19418217|PMID:19487299|PMID:19853286|PMID:20233444|PMID:20453058|PMID:21464312|PMID:21512767|PMID:21793738|PMID:22538770|PMID:22610119|PMID:22722201|PMID:22722839|PMID:22980975|PMID:23237847|PMID:23348505|PMID:23700467|PMID:23728071|PMID:23934607|PMID:24190505|PMID:24657128|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28492532
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:point mutation:cds:p.E17K (human)	PMID:17611497|REF_RGD_ID:1643334
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732909	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28655553|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732909	D	RGD:7240710	20200226	OMIM			
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:17576681|PMID:17611497|PMID:18504432|PMID:18954143|PMID:21793738|PMID:22821383|PMID:2287637|PMID:23237847|PMID:23334667|PMID:23348505|PMID:24096618|PMID:24714777|PMID:25741868|PMID:26681766|PMID:26701849|PMID:26826201|PMID:27147599|PMID:27624470|PMID:27993330|PMID:28492532|PMID:28726821|PMID:29533785|PMID:330302030|PMID:33123537|PMID:33692446|PMID:35101336|PMID:9536098
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:732909	D	RGD:9068941	20220421	RGD		human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:colon	PMID:21425139|REF_RGD_ID:13209139
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:732909	D	RGD:9068941	20200609	RGD		DNA:point mutation:cds:p.E17K (human)	PMID:17611497|REF_RGD_ID:1643334
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2081	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:vascular associated smooth muscle cell	PMID:19052261|REF_RGD_ID:2313556
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31626838
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735336	D	RGD:9068941	20200609	RGD			PMID:19289493|REF_RGD_ID:2311130
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:2081	D	RGD:9068941	20200924	RGD			PMID:24735788|REF_RGD_ID:39128151
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:732909	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32045588
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:2081	D	RGD:9068941	20241010	RGD			PMID:25160038|REF_RGD_ID:14700926
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9505	cannabis abuse		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21041608
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9970	obesity		ISO	RGD:732909	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9970	obesity		ISO	RGD:735336	D	RGD:9068941	20241107	RGD		protein:increased phosphorylation:aorta	PMID:19293429|REF_RGD_ID:408364952
12069545	AKT1	AKT serine/threonine kinase 1	gene	DOID:9976	heroin dependence	ameliorates	ISO	RGD:2081	D	RGD:9068941	20241031	RGD			PMID:33619816|REF_RGD_ID:408346756
12069567	IFI35	interferon induced protein 35	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069567	IFI35	interferon induced protein 35	gene	DOID:10534	stomach cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069567	IFI35	interferon induced protein 35	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069567	IFI35	interferon induced protein 35	gene	DOID:1324	lung cancer		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069567	IFI35	interferon induced protein 35	gene	DOID:3021	acute kidney failure		ISO	RGD:1312056	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40654249
12069567	IFI35	interferon induced protein 35	gene	DOID:3275	thymoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069567	IFI35	interferon induced protein 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069567	IFI35	interferon induced protein 35	gene	DOID:9001488	Human Influenza		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12069567	IFI35	interferon induced protein 35	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12069567	IFI35	interferon induced protein 35	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1312056	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12069567	IFI35	interferon induced protein 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12069578	HOXB1	homeobox B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069578	HOXB1	homeobox B1	gene	DOID:1059	intellectual disability		ISO	RGD:1321119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12069578	HOXB1	homeobox B1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12069578	HOXB1	homeobox B1	gene	DOID:630	genetic disease		ISO	RGD:1321119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12069578	HOXB1	homeobox B1	gene	DOID:9001799	Hereditary Congenital Facial Paresis		ISO	RGD:1321119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24239177
12069578	HOXB1	homeobox B1	gene	DOID:9004319	Ventricular Outflow Obstruction		ISO	RGD:1321120	D	RGD:9068941	20230629	RGD			PMID:26284287|REF_RGD_ID:11052805
12069578	HOXB1	homeobox B1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
12069578	HOXB1	homeobox B1	gene	DOID:9008662	Hereditary Congenital Facial Paresis 3		ISO	RGD:1321119	D	RGD:7240710	20180130	OMIM			
12069578	HOXB1	homeobox B1	gene	DOID:9008662	Hereditary Congenital Facial Paresis 3		ISO	RGD:1321119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | ClinVar Annotator: match by term: HOXB1-related condition	PMID:25741868|PMID:26467025|PMID:28492532
12069578	HOXB1	homeobox B1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
12069586	PHF12	PHD finger protein 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:1909	melanoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:3275	thymoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12069586	PHF12	PHD finger protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069586	PHF12	PHD finger protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069586	PHF12	PHD finger protein 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12069586	PHF12	PHD finger protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1348176	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:1909	melanoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069607	CNTNAP3	contactin associated protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0060058	lymphoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0070349	spinal muscular atrophy with lower extremity predominant 2A		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gower's muscular dystrophy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817800|PMID:31996268|PMID:36112647
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0081380	amyotrophic lateral sclerosis type 26		ISO	RGD:1313955	D	RGD:7240710	20210113	OMIM			
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:0081380	amyotrophic lateral sclerosis type 26		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 26 with or without frontotemporal dementia | ClinVar Annotator: match by term: amyotrophic lateral sclerosis 26 with or without frontotemporal dementia	PMID:25741868|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:36112647
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1305742	D	RGD:9068941	20200609	RGD			PMID:16055272|REF_RGD_ID:10059581
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:630	genetic disease		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:9008982	Welander Distal Myopathy, Swedish Type		ISO	RGD:1313955	D	RGD:7240710	20180130	OMIM			
12069635	TIA1	TIA1 cytotoxic granule associated RNA binding protein	gene	DOID:9008982	Welander Distal Myopathy, Swedish Type		ISO	RGD:1313955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Welander distal myopathy	PMID:16199547|PMID:17576681|PMID:23348830|PMID:23401021|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28817800|PMID:29216908|PMID:29886022|PMID:31996268|PMID:36112647|PMID:9536098
12069668	MED27	mediator complex subunit 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:25741868|PMID:33443317
12069668	MED27	mediator complex subunit 27	gene	DOID:10534	stomach cancer		ISO	RGD:1349942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069668	MED27	mediator complex subunit 27	gene	DOID:1059	intellectual disability		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:10907	microcephaly		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:1115	sarcoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:12859	choreatic disease		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:1324	lung cancer		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069668	MED27	mediator complex subunit 27	gene	DOID:1826	epilepsy		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:1909	melanoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:3275	thymoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:4362	cervical cancer		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069668	MED27	mediator complex subunit 27	gene	DOID:543	dystonia		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:630	genetic disease		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12069668	MED27	mediator complex subunit 27	gene	DOID:83	cataract		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:9003448	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA		ISO	RGD:1349942	D	RGD:7240710	20210519	OMIM			
12069668	MED27	mediator complex subunit 27	gene	DOID:9003448	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12069668	MED27	mediator complex subunit 27	gene	DOID:9007661	Dwarfism		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12069668	MED27	mediator complex subunit 27	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33443317|PMID:37517035
12069668	MED27	mediator complex subunit 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:736859	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2	PMID:25741868
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:0110868	congenital stationary night blindness 1D		ISO	RGD:736859	D	RGD:7240710	20180130	OMIM			
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:0110868	congenital stationary night blindness 1D		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1D | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D | ClinVar Annotator: match by term: SLC24A1-related condition	PMID:12037007|PMID:16199547|PMID:17576681|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:30902645|PMID:31589614|PMID:31964843|PMID:9536098
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736859	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:35486108
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:630	genetic disease		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12037007|PMID:20850105|PMID:25741868|PMID:26822852|PMID:28492532|PMID:31964843
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:620080	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebrum	PMID:23564126|REF_RGD_ID:9685494
12069680	SLC24A1	solute carrier family 24 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069727	ILRUN	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069727	ILRUN	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:10534	stomach cancer		ISO	RGD:1601978	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069727	ILRUN	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:1324	lung cancer		ISO	RGD:1601978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069727	ILRUN	inflammation and lipid regulator with UBA-like and NBR1-like domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1601978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069782	ZNF397	zinc finger protein 397	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069782	ZNF397	zinc finger protein 397	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12069782	ZNF397	zinc finger protein 397	gene	DOID:3275	thymoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069782	ZNF397	zinc finger protein 397	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069782	ZNF397	zinc finger protein 397	gene	DOID:6039	uveal melanoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12069782	ZNF397	zinc finger protein 397	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069810	MSL1	MSL complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12069810	MSL1	MSL complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069810	MSL1	MSL complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069810	MSL1	MSL complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2307385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069826	ZNF527	zinc finger protein 527	gene	DOID:10534	stomach cancer		ISO	RGD:1347810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069826	ZNF527	zinc finger protein 527	gene	DOID:1909	melanoma		ISO	RGD:1347810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069826	ZNF527	zinc finger protein 527	gene	DOID:5041	esophageal cancer		ISO	RGD:1347810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069826	ZNF527	zinc finger protein 527	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069826	ZNF527	zinc finger protein 527	gene	DOID:6039	uveal melanoma		ISO	RGD:1347810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12069826	ZNF527	zinc finger protein 527	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069826	ZNF527	zinc finger protein 527	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12069917	ZNF583	zinc finger protein 583	gene	DOID:1324	lung cancer		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069917	ZNF583	zinc finger protein 583	gene	DOID:5041	esophageal cancer		ISO	RGD:1350167	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069917	ZNF583	zinc finger protein 583	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069917	ZNF583	zinc finger protein 583	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069955	GALC	galactosylceramidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069955	GALC	galactosylceramidase	gene	DOID:0050952	spastic ataxia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12069955	GALC	galactosylceramidase	gene	DOID:10376	amblyopia		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
12069955	GALC	galactosylceramidase	gene	DOID:10534	stomach cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		IAGP		D	RGD:12801476	20251217	OMIA		Krabbe disease	PMID:4721757|PMID:1158775|PMID:970445|PMID:5099954|PMID:5538703|PMID:5484847|PMID:5167788|PMID:8661004|PMID:9741878|PMID:9987921|PMID:10752900|PMID:11074371|PMID:16490723|PMID:20839990|PMID:18808060|PMID:3895053|PMID:25260228|PMID:27638585|PMID:27491217|PMID:32219101|PMID:31794880|PMID:29316812|PMID:35333110|PMID:5950438|PMID:4327663|PMID:3372337|PMID:27638617|PMID:33851745|PMID:37593836|PMID:37952085|PMID:38003185|PMID:41381017
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:7240710	20180130	OMIM			
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32089546|PMID:32295525|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32860008|PMID:32912261|PMID:33178108|PMID:3362311|PMID:34012265|PMID:34065072|PMID:34445196|PMID:35013804|PMID:35419325|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24033266|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25741915|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31885218|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: Leukodystrophy, Globoid Cell	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:37597066|PMID:38693247|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23509109|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108647|PMID:26223439|PMID:26396125|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28337550|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30202406|PMID:30209698|PMID:30609409|PMID:30729410|PMID:30777126|PMID:31053700|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32860008|PMID:32912261|PMID:32973651|PMID:33178108|PMID:33190188|PMID:33547378|PMID:3362311|PMID:33832819|PMID:34012265|PMID:34065072|PMID:34071213|PMID:34426522|PMID:34445196|PMID:34449528|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35654103|PMID:36113749|PMID:36380532|PMID:37597066|PMID:38693247|PMID:39825153|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:10587	Krabbe disease		ISO	RGD:1347926	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GALC DEFICIENCY | ClinVar Annotator: match by term: Galactosylceramide beta-galactosidase deficiency | ClinVar Annotator: match by term: KRABBE DISEASE | ClinVar Annotator: match by term: Krabbe disease	PMID:10234611|PMID:10448809|PMID:10464649|PMID:10477434|PMID:10833326|PMID:11003282|PMID:11151421|PMID:12699861|PMID:14572137|PMID:16199547|PMID:16607461|PMID:16759875|PMID:17576681|PMID:17579360|PMID:17824908|PMID:18846620|PMID:19302934|PMID:20135576|PMID:20301416|PMID:20410102|PMID:20886637|PMID:21070211|PMID:21824559|PMID:21876145|PMID:22073273|PMID:22115770|PMID:22520351|PMID:22704718|PMID:23128445|PMID:23138179|PMID:23197103|PMID:23319190|PMID:23430802|PMID:23462331|PMID:23620143|PMID:24078576|PMID:24252386|PMID:24297913|PMID:24388568|PMID:24793135|PMID:24913062|PMID:25260228|PMID:25265039|PMID:25640679|PMID:25741868|PMID:25956830|PMID:26108143|PMID:26108647|PMID:26223439|PMID:26539891|PMID:26567009|PMID:26795590|PMID:26840509|PMID:26865610|PMID:26915362|PMID:27126738|PMID:27171547|PMID:27238910|PMID:27442402|PMID:27535533|PMID:27617109|PMID:27638583|PMID:27638587|PMID:27638592|PMID:27638593|PMID:27638604|PMID:27679535|PMID:27779215|PMID:27780934|PMID:27785412|PMID:28109651|PMID:28492532|PMID:28547031|PMID:28598007|PMID:28600779|PMID:28855403|PMID:28976722|PMID:29120458|PMID:29286531|PMID:29481565|PMID:29615819|PMID:29691679|PMID:29951496|PMID:29966168|PMID:30089515|PMID:30209698|PMID:30323943|PMID:30384423|PMID:30729410|PMID:30777126|PMID:31093932|PMID:31185936|PMID:31240153|PMID:31319225|PMID:31350907|PMID:31395954|PMID:31400137|PMID:31589614|PMID:31885218|PMID:31980526|PMID:32036093|PMID:32064984|PMID:32089546|PMID:32186243|PMID:32342562|PMID:32411386|PMID:32576985|PMID:32677356|PMID:32709422|PMID:32763824|PMID:32912261|PMID:32973651|PMID:33150395|PMID:33176815|PMID:33178108|PMID:33190188|PMID:33191329|PMID:33547378|PMID:3362311|PMID:33832819|PMID:33948933|PMID:33989519|PMID:34012265|PMID:34055681|PMID:34065072|PMID:34071213|PMID:34445196|PMID:34449528|PMID:34869463|PMID:35002157|PMID:35012964|PMID:35013804|PMID:35212100|PMID:35286032|PMID:35419325|PMID:35586607|PMID:35614200|PMID:35654103|PMID:36057781|PMID:36113749|PMID:36200664|PMID:36380532|PMID:37434390|PMID:37597066|PMID:38515343|PMID:38693247|PMID:38730490|PMID:39184309|PMID:39499628|PMID:40355959|PMID:40449593|PMID:41276028|PMID:7437911|PMID:7581365|PMID:8281145|PMID:8297359|PMID:8399327|PMID:8595408|PMID:8634707|PMID:8687180|PMID:8786069|PMID:8940268|PMID:9005874|PMID:9266397|PMID:9272171|PMID:9338580|PMID:9371928|PMID:9536098
12069955	GALC	galactosylceramidase	gene	DOID:1059	intellectual disability		ISO	RGD:1347926	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12069955	GALC	galactosylceramidase	gene	DOID:1115	sarcoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069955	GALC	galactosylceramidase	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		mRNA:decreased expression:frontal cortex (human)	PMID:30009661|REF_RGD_ID:38599170
12069955	GALC	galactosylceramidase	gene	DOID:1324	lung cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069955	GALC	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:Cerebrospinal fluid, serum (human)	PMID:29301655|REF_RGD_ID:38599172
12069955	GALC	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		associated with Guillain-Barre syndrome; protein:increased expression:serum (human)	PMID:12225900|PMID:27490360|REF_RGD_ID:38599168|REF_RGD_ID:38599169
12069955	GALC	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1347926	D	RGD:9068941	20200911	RGD		protein:increased expression:serum (human)	PMID:30396892|REF_RGD_ID:38599171
12069955	GALC	galactosylceramidase	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1552188	D	RGD:9068941	20200911	RGD		protein:increased expression:serum (mouse)	PMID:30396892|REF_RGD_ID:38599171
12069955	GALC	galactosylceramidase	gene	DOID:1826	epilepsy		ISO	RGD:1347926	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Epilepsy syndrome	
12069955	GALC	galactosylceramidase	gene	DOID:1909	melanoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069955	GALC	galactosylceramidase	gene	DOID:4362	cervical cancer		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069955	GALC	galactosylceramidase	gene	DOID:480	movement disease		ISO	RGD:1347926	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: movement disorder	
12069955	GALC	galactosylceramidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1347926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069955	GALC	galactosylceramidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069955	GALC	galactosylceramidase	gene	DOID:630	genetic disease		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12069955	GALC	galactosylceramidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12069955	GALC	galactosylceramidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12069955	GALC	galactosylceramidase	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1347926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:24078576|PMID:25265039|PMID:25741868|PMID:28492532|PMID:28598007|PMID:31185936
12069955	GALC	galactosylceramidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
12069955	GALC	galactosylceramidase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:16607461|PMID:24252386|PMID:25741868|PMID:26795590|PMID:26865610|PMID:27126738|PMID:27638593|PMID:27679535|PMID:27780934|PMID:28492532|PMID:28598007|PMID:29951496|PMID:30089515|PMID:32064984|PMID:32677356|PMID:33178108|PMID:35654103|PMID:9272171|PMID:9371928
12069955	GALC	galactosylceramidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069955	GALC	galactosylceramidase	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1347926	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex febrile seizure	PMID:23462331|PMID:25741868|PMID:28492532|PMID:31885218
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:10534	stomach cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:1115	sarcoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:1324	lung cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:1909	melanoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:37	skin disease		ISO	RGD:1314631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:4362	cervical cancer		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:5041	esophageal cancer		ISO	RGD:1314631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:5419	schizophrenia		ISO	RGD:1314631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314631	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1314631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25759212
12069991	INPP5A	inositol polyphosphate-5-phosphatase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:621149	D	RGD:9068941	20250130	RGD			PMID:32429274|REF_RGD_ID:597538527
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:1324	lung cancer		ISO	RGD:733281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:621149	D	RGD:9068941	20250130	RGD			PMID:32707498|REF_RGD_ID:597538521
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: SLC22A4-related condition	PMID:25741868|PMID:28492532
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:733281	D	RGD:7240710	20191218	OMIM			
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:820	myocarditis		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:733281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21641380
12070012	SLC22A4	solute carrier family 22 member 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733281	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0040091	autoimmune pancreatitis	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)	PMID:18155707|REF_RGD_ID:5147621
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050012	chikungunya	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds: HLA-DQB1*03:03 (human)	PMID:23710940|REF_RGD_ID:36049872
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050168	autoimmune polyendocrine syndrome type 2	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*02, HLA-DQB1*05 (human)	PMID:21388354|REF_RGD_ID:5147565
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050185	erythema multiforme		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:9627123|REF_RGD_ID:5147868
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050426	Stevens-Johnson syndrome	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0601 (human)	PMID:8841298|REF_RGD_ID:7483570
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050748	marginal zone lymphoma		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Helicobacter Infections;DNA:polymorphism: :HLA-DQB1*0601  (human)	PMID:16234023|REF_RGD_ID:5147794
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050784	primary progressive multiple sclerosis	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*0602 (human)	PMID:19616314|REF_RGD_ID:5147610
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*08 (human)	PMID:17578051|REF_RGD_ID:5147630
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:20843162|REF_RGD_ID:5147570
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0402 (human)	PMID:12373032|REF_RGD_ID:5147804
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:10931389|PMID:22291608|REF_RGD_ID:11041755|REF_RGD_ID:11041756
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:12070003|REF_RGD_ID:11041765
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0060532	latex allergy		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:15536412|REF_RGD_ID:5147656
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0060643	primary sclerosing cholangitis	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:30487703|REF_RGD_ID:14865010
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0060851	pemphigus vulgaris		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:28197992|REF_RGD_ID:14747041
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0070701	small fiber neuropathy		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with sarcoidosis;DNA:polymorphisms:cds:HLA-DQB1*0602 (human)	PMID:16053028|REF_RGD_ID:5147648
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0080822	aspirin-induced respiratory disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:25975240|REF_RGD_ID:11074090
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0081463	recurrent respiratory papillomatosis	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*0602(human)	PMID:19861144|REF_RGD_ID:36174013
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0081463	recurrent respiratory papillomatosis	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0201,  HLA-DQB1*0602 (human)	PMID:15336778|REF_RGD_ID:5147657
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0110429	dilated cardiomyopathy 1H	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:10432437|REF_RGD_ID:5147858
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:0110429	dilated cardiomyopathy 1H	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0303 (human)	PMID:15996167|REF_RGD_ID:5147650
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1019	osteomyelitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Anemia, Sickle Cell;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*050101, HLA-DQB1*0201, HLA-DQB1*0302 (human)	PMID:18312480|REF_RGD_ID:11041747
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10316	pneumoconiosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*06, HLA-DQB1*08, HLA-DQB1*09 (human)	PMID:16188098|REF_RGD_ID:7421557
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10325	silicosis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*0402(human)	PMID:11776400|REF_RGD_ID:36049758
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:104	bacterial infectious disease	onset	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Cystic Fibrosis;DNA:polymorphism (human)	PMID:16987934|REF_RGD_ID:5147635
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*04 (human)	PMID:10960630|REF_RGD_ID:36174024
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1353906	D	RGD:7240710	20260812	OMIM			
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0301 (human)	PMID:19922436|REF_RGD_ID:11041754
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:19254255|REF_RGD_ID:11041761
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11165	common wart	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*0301	PMID:15257408|REF_RGD_ID:36049812
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :HLA-DQBl*O603, DQB1*0604(human)	PMID:9659531|REF_RGD_ID:36174017
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11336	rhinoscleroma	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:haplotype: :	PMID:17321882|REF_RGD_ID:8547664
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11339	pneumocystosis		ISO	RGD:3469	D	RGD:9068941	20230413	RGD			PMID:20377877|REF_RGD_ID:4144112
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11656	cicatricial pemphigoid	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0301 (human)	PMID:9008223|REF_RGD_ID:7483589
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11656	cicatricial pemphigoid	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0201 (human)	PMID:9683867|REF_RGD_ID:7365096
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11829	degenerative myopia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:multiple (human)	PMID:10887689|REF_RGD_ID:7483572
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11829	degenerative myopia	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:multiple (human)	PMID:11864433|REF_RGD_ID:7421542
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11949	Creutzfeldt-Jakob disease	susceptibility	ISO	RGD:1353906	D	RGD:7240710	20260812	OMIM			
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1205	allergic disease		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:8725357
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1205	allergic disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:10689122|PMID:16112029|REF_RGD_ID:5147814|REF_RGD_ID:5147826
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1205	allergic disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:10202362|REF_RGD_ID:5147866
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1205	allergic disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:15853900|PMID:20684489|REF_RGD_ID:5147606|REF_RGD_ID:5147651
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1210	optic neuritis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0602 (human)	PMID:9006417|REF_RGD_ID:7483596
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12148	alveolar echinococcosis	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*02(human)	PMID:9756400|REF_RGD_ID:36174003
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:10361244|REF_RGD_ID:5147864
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12241	beta thalassemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:12513847|REF_RGD_ID:11041746
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12297	Vogt-Koyanagi-Harada disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:multiple (human)	PMID:17605936|REF_RGD_ID:7421525
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12297	Vogt-Koyanagi-Harada disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:snps:promoter:g.-227G>A, g.-189C>A (human)	PMID:19176112|REF_RGD_ID:7421581
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12306	vitiligo		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:16420246|REF_RGD_ID:5147644
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:HLA-DQB1*0201(human)	PMID:9653015|REF_RGD_ID:36174006
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0602 (human)	PMID:11272094|REF_RGD_ID:7483568
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0303, HLA-DQB1*201 (human)	PMID:10468909|REF_RGD_ID:7421572
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12449	aplastic anemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:12070003|REF_RGD_ID:11041765
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12449	aplastic anemia	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:24979673|REF_RGD_ID:11041757
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12449	aplastic anemia	treatment	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:7994040|REF_RGD_ID:11041775
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1245	vulva cancer	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Papillomavirus Infections;DNA:polymorphisms: :HLA-DQB1*03032,DQB1*5(human)	PMID:12543794|REF_RGD_ID:2314696
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12859	choreatic disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Rheumatic Fever;DNA:polymorphism (human)	PMID:17559688|REF_RGD_ID:5147792
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0401, HLA-DQB1*0601 (human)	PMID:8468491|REF_RGD_ID:7483566
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0201 (human)	PMID:21315052|REF_RGD_ID:7421543
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12894	Sjogren's syndrome	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Chronic Hepatitis C;DNA:polymorphism:cds:HLA-DQB1*02 (human)	PMID:17489060|REF_RGD_ID:36174022
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:9220309|REF_RGD_ID:13702906
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:12987	agranulocytosis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:SNP: :6672G>C (human)	PMID:20868635|REF_RGD_ID:11041752
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13141	uveitis		ISO	RGD:3469	D	RGD:9068941	20230413	RGD		associated with Encephalomyelitis, Autoimmune, Experimental	PMID:16723470|REF_RGD_ID:5147639
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13166	allergic bronchopulmonary aspergillosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with cystic fibrosis; DNA:polymorphisms: :DQB1*06:02, DQB1*02:01(human)	PMID:23278646|REF_RGD_ID:36049760
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:multiple (human)	PMID:23396137|REF_RGD_ID:7483565
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13258	typhoid fever	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms::	PMID:11120931|REF_RGD_ID:36049756
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1340	pure red-cell aplasia	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0309 (human)	PMID:18689790|REF_RGD_ID:11041748
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13774	Addison's disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:20455895|REF_RGD_ID:5147608
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:13774	Addison's disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:repeat (human)	PMID:12072047|REF_RGD_ID:5147829
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:14040	autoimmune polyendocrine syndrome	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0401 (human)	PMID:16254435|REF_RGD_ID:5147646
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:14067	Plasmodium falciparum malaria	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0501 (human)	PMID:11076705|REF_RGD_ID:11041780
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1459	hypothyroidism	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*03, HLA-DQB1*05 (human)	PMID:17588142|REF_RGD_ID:5147628
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1495	cystic echinococcosis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :HLA-DQB1*0.9, DQB1*02(human)	PMID:22308705|REF_RGD_ID:36174019
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1555	urticaria		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:16502481
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1558	angioedema		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:15784113
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1586	rheumatic fever		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:multiple	PMID:17559688|REF_RGD_ID:5147792
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1686	glaucoma	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0302 (human)	PMID:10511023|REF_RGD_ID:7365116
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1883	hepatitis C		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Beta-Thalassemia	PMID:22155912|REF_RGD_ID:11041750
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:27340680|PMID:27599887|REF_RGD_ID:14928326|REF_RGD_ID:14928327
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*03, *0501 (human)	PMID:21535077|REF_RGD_ID:40902997
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2043	hepatitis B		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:29979894|REF_RGD_ID:14865006
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2043	hepatitis B	treatment	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:29042702|REF_RGD_ID:14865007
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:17050030|PMID:20007077|REF_RGD_ID:5147584|REF_RGD_ID:5147634
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:216	dental caries		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:29594988|REF_RGD_ID:14928324
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1353906	D	RGD:7240710	20260812	OMIM			
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:10792356
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		Alternaria sensitive asthma	PMID:20298583|REF_RGD_ID:4144113
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:11802952|PMID:12890388|PMID:19052351|REF_RGD_ID:5147617|REF_RGD_ID:5147799|REF_RGD_ID:5147831
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :	PMID:20214848|REF_RGD_ID:4144181
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:23331206|REF_RGD_ID:13506906
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :	PMID:20159242|REF_RGD_ID:13506913
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*3:03(human)	PMID:28612994|REF_RGD_ID:36049765
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:19230186|REF_RGD_ID:5147614
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0201(human)	PMID:24024195|REF_RGD_ID:36049753
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:25305756
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*0301(human)	PMID:7638860|REF_RGD_ID:36174018
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :multiple (human)	PMID:11157139|REF_RGD_ID:5147862
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:25729550|REF_RGD_ID:36174012
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:3275	thymoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with  acquired immunodeficiency syndrome;DNA:polymorphism: :HLA-DQB1*05	PMID:19030725|REF_RGD_ID:36049809
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:401	multidrug-resistant tuberculosis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:14522182|REF_RGD_ID:5147828
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:417	autoimmune disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Diabetes Mellitus, Type 1;DNA:polymorphisms: :multiple (human)	PMID:21744463|REF_RGD_ID:5147554
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:417	autoimmune disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Neutropenia	PMID:19210322|REF_RGD_ID:11041759
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:20383147
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms::HLA-DQB1*050201, DQB1*060101, DQB1*0602(human)	PMID:16425277|REF_RGD_ID:36174023
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Papillomavirus Infections;DNA:polymorphism: :HLA-DQB1 G > A (rs6457617)(human)	PMID:25893807|REF_RGD_ID:36174015
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:437	myasthenia gravis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype:cds:HLA-DQB1*0302 (human)	PMID:10593018|REF_RGD_ID:5147855
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:437	myasthenia gravis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :HLA-DBQ1*0301, HLA-DBQ1*0502, HLA-DBQ1*0602/3 (human)	PMID:19561379|REF_RGD_ID:5147612
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0602 (human)	PMID:14990915|REF_RGD_ID:5147798
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Schistosomiasis Japonica;DNA:polymorphisms: :HLA-DQB1*0303, HLA-DQB1*0601, HLA-DQB1*0609(human)	PMID:11336748|REF_RGD_ID:36049755
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:18427198|REF_RGD_ID:5147817
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :multiple (human)	PMID:20345872|REF_RGD_ID:5147659
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1353906	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:633	myositis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype:cds:HLA-DQB1*02 (human)	PMID:17586554|REF_RGD_ID:5147629
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:639	acute disseminated encephalomyelitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:19722042|REF_RGD_ID:5147662
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:639	acute disseminated encephalomyelitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype: :	PMID:22786832|REF_RGD_ID:36049763
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:10457895|REF_RGD_ID:5147863
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with hepatitis B	PMID:27288300|REF_RGD_ID:14928325
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:7147	ankylosing spondylitis	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0603 (human)	PMID:19565552|REF_RGD_ID:5147611
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:11454644|REF_RGD_ID:5147860
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0401 (human)	PMID:20825955|REF_RGD_ID:5147571
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:76	stomach disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Helicobacter Infections;DNA:polymorphisms:cds:HLA-DQB1*03 (human)	PMID:20405713|REF_RGD_ID:5147609
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:7998	hyperthyroidism	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype:cds:HLA-DQB1*0602 (human)	PMID:17194971|REF_RGD_ID:7421571
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:820	myocarditis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0303 (human)	PMID:19127454|REF_RGD_ID:5147615
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:848	arthritis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:20472930|REF_RGD_ID:5147787
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:17893434|REF_RGD_ID:11041777
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:31038770|REF_RGD_ID:14865009
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8691	mycosis fungoides	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*03 (human)	PMID:15761416|REF_RGD_ID:7483574
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:29358886|REF_RGD_ID:14974239
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8869	neuromyelitis optica	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:: HLA-DQB1*02:02 (human)	PMID:27049564|REF_RGD_ID:11530523
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8869	neuromyelitis optica	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0402 (human)	PMID:21908482|REF_RGD_ID:7421588
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0201, HLA-DQB1*0303 (human)	PMID:15009387|REF_RGD_ID:5147797
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0401 (human)	PMID:10435723|REF_RGD_ID:11041758
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8929	atrophic gastritis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:20082482|REF_RGD_ID:5147582
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8929	atrophic gastritis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Helicobacter Infections; DNA:polymorphism: :HLA- DQB1*0401(human)	PMID:10616761|REF_RGD_ID:36174021
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0201, HLA-DQB1*0302 (human)	PMID:8932997|REF_RGD_ID:7483573
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Diabetes Mellitus, Type 1;DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0501, HLA-DQB1*0504 (human)	PMID:19551681|REF_RGD_ID:7421552
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:8986	narcolepsy		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711174
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9000877	Rhinosinusitis, Allergic Fungal		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0301, HLA-DQB1*0302 (human)	PMID:15577839|REF_RGD_ID:5147654
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9000906	Oropharyngeal Neoplasms		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749845
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9001365	Amebic Liver Abscess	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype: :HLA-DQB1*04, HLA-DQB1*02	PMID:25938667|REF_RGD_ID:36049810
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with intrinsic asthma;DNA:polymorphism, haplotype:cds:HLA-DQB1*0202 (human)	PMID:10718431|REF_RGD_ID:5147813
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9001472	Nasal Polyps	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:haplotype: : HLA-DQB1*0201;	PMID:16890076|REF_RGD_ID:8547658
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:3469	D	RGD:9068941	20230413	RGD			PMID:9834080|REF_RGD_ID:5147666
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9002695	Cataplexy		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Narcolepsy;DNA:polymorphism (human)	PMID:17297265|REF_RGD_ID:5147632
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:16194572|REF_RGD_ID:5147647
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3469	D	RGD:9068941	20230413	RGD			PMID:16723470|PMID:9834080|REF_RGD_ID:5147639|REF_RGD_ID:5147666
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*02 (human)	PMID:17489060|REF_RGD_ID:36174022
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004096	Veno-Occlusive Disease		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Anemia, Sickle Cell	PMID:18272668|REF_RGD_ID:11041760
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004136	Cataplexy and Narcolepsy	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20251213	RGD		DNA:polymorphisms:cds:multiple	PMID:11179016|REF_RGD_ID:5147861
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:3469	D	RGD:9068941	20230413	RGD			PMID:1547813|REF_RGD_ID:7421554
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:27400856|REF_RGD_ID:14928329
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders	severity	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*0602 (human)	PMID:21292329|REF_RGD_ID:5147604
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9004735	Idiopathic Hypersomnolence		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:19927159|REF_RGD_ID:5147660
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:16502481
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9006096	Uterine Cervical Dysplasia	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :DQB1*0302, DQB1*0301, DQB1*0601 (human)	PMID:16803516|REF_RGD_ID:36049759
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9006404	Tubulointerstitial Nephritis and Uveitis		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*05, HLA-DQB1*0501 (human)	PMID:12556395|REF_RGD_ID:5147802
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007355	Hashimoto Disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:19254248|REF_RGD_ID:5147613
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007355	Hashimoto Disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Diabetes Mellitus, Type 1;DNA:polymorphism:cds:HLA-DQB1*0302 (human)	PMID:8157715|REF_RGD_ID:7483569
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570397
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:26959717|REF_RGD_ID:11573514
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*05(human)	PMID:25250564|REF_RGD_ID:36174016
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9007996	End Stage Liver Disease	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human)	PMID:11302974|REF_RGD_ID:36174014
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism:cds:HLA-DQB1*05 (human)	PMID:22032123|REF_RGD_ID:7421561
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0301, HLA-DQB1*0501 (human)	PMID:9641569|REF_RGD_ID:7421576
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Purpura, Thrombocytopenic, Idiopathic;DNA:polymorphisms (human)	PMID:16011982|REF_RGD_ID:5147649
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :HLA-DQB1*301, HLA-DQB1*04(human)	PMID:15833172|REF_RGD_ID:36049761
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms (human)	PMID:16893387|REF_RGD_ID:5147637
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :multiple	PMID:29287219|REF_RGD_ID:14865012
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008163	Chronic Hepatitis B	no_association	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:SNP: :rs2856718 (human)	PMID:28267888|REF_RGD_ID:14974232
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: :HLA-DQB1*07(human)	PMID:16237774|REF_RGD_ID:36049762
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms: :multiple (human)	PMID:18552411|PMID:21658414|REF_RGD_ID:5147560|REF_RGD_ID:5147620
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0201 (human)	PMID:12651073|REF_RGD_ID:40902999
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9164	achalasia		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997987
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9164	achalasia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:SNP::rs28688207 (human)	PMID:30788115|REF_RGD_ID:14974238
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9164	achalasia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism (human)	PMID:11837716|REF_RGD_ID:5147806
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9164	achalasia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism, haplotype	PMID:30092016|REF_RGD_ID:14865011
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9182	pemphigus		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms:cds:HLA-DQB1*0302, HLA-DQB1*0502 (human)	PMID:18780165|REF_RGD_ID:5147619
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:CNVs	PMID:31001878|REF_RGD_ID:14974237
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9383	iridocyclitis	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Juvenile pauciarticular chronic arthritis;DNA:polymorphism:cds:HLA-DQB1*0301 (human)	PMID:1625093|REF_RGD_ID:7421584
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353906	D	RGD:9068941	20230413	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168013
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD			PMID:28247576|REF_RGD_ID:14865008
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:HLA-DQB1*0201, HLA-DQB1*0502 (human)	PMID:17728790|REF_RGD_ID:5147626
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		associated with Sclerosing Lymphocytic Lobulitis	PMID:10562813|REF_RGD_ID:11041764
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:multiple (human)	PMID:20510319|REF_RGD_ID:5147575
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:multiple (human)	PMID:20858521|REF_RGD_ID:5147569
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:986	alopecia areata	susceptibility	ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphism: : HLA-DQB1*0604;	PMID:16231148|REF_RGD_ID:8547568
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotype:cds:HLA-DQB1*0501 (human)	PMID:9744491|REF_RGD_ID:11041762
12070031	DLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1353906	D	RGD:9068941	20230413	RGD		DNA:polymorphisms, haplotypes:cds:multiple	PMID:22434102|REF_RGD_ID:11041749
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD			PMID:28247576|PMID:30013750|REF_RGD_ID:14865008|REF_RGD_ID:14928328
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD		DNA:polymorphism (human)	PMID:19494267|REF_RGD_ID:5147789
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD		DNA:polymorphisms	PMID:29793442|REF_RGD_ID:14974234
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD		DNA:polymorphisms, haplotypes:multiple (human)	PMID:18509540|REF_RGD_ID:5147791
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD		associated with Down Syndrome;DNA:polymorphisms, haplotype:HLA-DQB1*0201 (human)	PMID:11426458|REF_RGD_ID:5147854
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:10608	celiac disease		ISO	RGD:1353906	D	RGD:9068941	20260813	RGD		associated with Thyroiditis, Autoimmune;DNA:polymorphisms, haplotype:HLA-DQB1*02 (human)	PMID:11713456|REF_RGD_ID:5147808
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1353906	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	
12070031	HLA-DQB1	major histocompatibility complex, class II, DQ beta 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353906	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0112079	nuclear type mitochondrial complex I deficiency 24		ISO	RGD:1316117	D	RGD:7240710	20190315	OMIM			
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:0112079	nuclear type mitochondrial complex I deficiency 24		ISO	RGD:1316117	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 24 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 24 | ClinVar Annotator: match by term: NDUFB9-related condition	PMID:22200994|PMID:25741868|PMID:28492532|PMID:38129218
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:9004657	Weight Gain		ISO	RGD:1316117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12070038	NDUFB9	NADH:ubiquinone oxidoreductase subunit B9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0050721	serine deficiency		ISO	RGD:1607031	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: neurometabolic disorder due to serine deficiency	PMID:16199547|PMID:17436247|PMID:25152457|PMID:25741868|PMID:28492532|PMID:32579715
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0050723	PSAT deficiency		ISO	RGD:1607031	D	RGD:7240710	20180130	OMIM			
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0050723	PSAT deficiency		ISO	RGD:1607031	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY | ClinVar Annotator: match by term: PSAT deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32077105|PMID:34089226|PMID:9536098
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0080075	Neu-Laxova syndrome 2		ISO	RGD:1607031	D	RGD:7240710	20180130	OMIM			
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0080075	Neu-Laxova syndrome 2		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEU-LAXOVA SYNDROME 2 | ClinVar Annotator: match by term: Neu-Laxova syndrome 2 | ClinVar Annotator: match by term: PSAT1-related condition | ClinVar Annotator: match by term: PSAT1-related disorder	PMID:16199547|PMID:17436247|PMID:17576681|PMID:25152457|PMID:25741868|PMID:26960553|PMID:28492532|PMID:30293248|PMID:31903955|PMID:32077105|PMID:32579715|PMID:34089226|PMID:37627284|PMID:9536098
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0080076	Neu-Laxova syndrome 1		ISO	RGD:1607031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1607031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482881
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1607031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607031	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1607031	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:9000495	Tremor		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fine tremor	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1607031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532
12070051	PSAT1	phosphoserine aminotransferase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1607031	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:1324	lung cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:1909	melanoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:3275	thymoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1606845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16204055
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:9002928	Colonic Neoplasms	exacerbates	ISO	RGD:1553510	D	RGD:9068941	20220602	RGD			PMID:16204055|REF_RGD_ID:152977751
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070064	PARP4	poly(ADP-ribose) polymerase family member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070135	TCERG1	transcription elongation regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602998	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15897898
12070170	RIOX2	ribosomal oxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1602998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:735373	D	RGD:7240710	20180718	OMIM			
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BMPR2-related condition | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1, autosomal dominant	PMID:10903931|PMID:11115378|PMID:11502704|PMID:12446270|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:16429395|PMID:16717148|PMID:18356561|PMID:18503968|PMID:18626305|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21070126|PMID:21737554|PMID:21801371|PMID:23675998|PMID:24033266|PMID:24292273|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:27002414|PMID:28388887|PMID:28492532|PMID:29718794|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34426522|PMID:34589526|PMID:34697415
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:1115	sarcoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:11613	hyperandrogenism		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22825968
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:13374	fibrodysplasia ossificans progressiva		ISO	RGD:735373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive myositis ossificans	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Idiopathic Pulmonary Hypertension | ClinVar Annotator: match by term: Idiopathic and/or familial pulmonary arterial hypertension | ClinVar Annotator: match by term: Primary pulmonary hypertension | ClinVar Annotator: match by term: Pulmonary hypertension, primary, dexfenfluramine-associated	PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12358323|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17576681|PMID:18159113|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19324947|PMID:19555857|PMID:20002458|PMID:20095988|PMID:20096498|PMID:20534176|PMID:21737554|PMID:21801371|PMID:21920918|PMID:23298310|PMID:23579436|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25187962|PMID:25429696|PMID:25612240|PMID:25640679|PMID:25688877|PMID:25741868|PMID:25917481|PMID:26387786|PMID:26820968|PMID:27002414|PMID:27453251|PMID:27613157|PMID:27630060|PMID:27811071|PMID:27816994|PMID:27884767|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29631995|PMID:29650961|PMID:29718794|PMID:29743074|PMID:29843651|PMID:30029678|PMID:30084161|PMID:30578397|PMID:30679663|PMID:30957726|PMID:31727138|PMID:31797984|PMID:32581362|PMID:32634488|PMID:32966279|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:34966542|PMID:35346192|PMID:9536098
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:1681	heart septal defect		ISO	RGD:735373	D	RGD:9068941	20200609	RGD			PMID:21070126|REF_RGD_ID:5129230
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:1826	epilepsy		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18321866|PMID:25741868|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:2841	asthma		ISO	RGD:735373	D	RGD:9068941	20200609	RGD		protein:decreased expression:bronchus	PMID:18292470|REF_RGD_ID:5129470
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:341	peripheral vascular disease		ISO	RGD:735374	D	RGD:9068941	20200609	RGD			PMID:18723761|REF_RGD_ID:5129473
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:4362	cervical cancer		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:18356561|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:25741868|PMID:26387786|PMID:28492532|PMID:32368696|PMID:36675162
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:32368696
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:630	genetic disease		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28391780|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735373	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension	PMID:25741868
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:735373	D	RGD:9068941	20200609	RGD		DNA:missense mutations (human)	PMID:19785764|REF_RGD_ID:5129239
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:735373	D	RGD:9068941	20201001	RGD			PMID:21737550|REF_RGD_ID:38500243
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus, neuron	PMID:9080432|REF_RGD_ID:5129488
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with HIV infection | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease | ClinVar Annotator: match by term: pulmonary arterial hypertension	PMID:10903931|PMID:11115378|PMID:11502704|PMID:12045205|PMID:12821254|PMID:14985116|PMID:15059534|PMID:15146475|PMID:15358693|PMID:15591269|PMID:16199547|PMID:16429395|PMID:16717148|PMID:18321866|PMID:18356561|PMID:18503968|PMID:19555857|PMID:20002458|PMID:20534176|PMID:21737554|PMID:21801371|PMID:23579436|PMID:23675998|PMID:24583436|PMID:24591673|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26645265|PMID:27002414|PMID:28388887|PMID:28480048|PMID:28492532|PMID:29650961|PMID:29718794|PMID:30029678|PMID:30084161|PMID:30578397|PMID:31727138|PMID:32581362|PMID:33380512|PMID:34589526|PMID:36675162
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:735374	D	RGD:9068941	20230608	RGD			PMID:23867624|REF_RGD_ID:329848996
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:18321866|PMID:25741868|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18321866|PMID:25741868|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus, granule cell	PMID:10996456|REF_RGD_ID:5129486
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:71082	D	RGD:9068941	20201211	RGD			PMID:25593290|REF_RGD_ID:38500244
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9005151	Selective Tooth Agenesis 1		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 1	PMID:25741868
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9005616	Micrognathism		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18321866|PMID:25741868|PMID:28492532
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:71082	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:21521772|REF_RGD_ID:5135278
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:735373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9008763	Femoral Fractures		ISO	RGD:71082	D	RGD:9068941	20200609	RGD			PMID:9626398|REF_RGD_ID:2289041
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23180569
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:735373	D	RGD:7240710	20180905	OMIM			
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:735373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BMPR2-related disorder | ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 1 | ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:10903931|PMID:10973254|PMID:11015450|PMID:11115378|PMID:11502704|PMID:11536076|PMID:12045205|PMID:12139571|PMID:12417513|PMID:12821254|PMID:14516151|PMID:14583445|PMID:14985116|PMID:15055271|PMID:15059534|PMID:15146475|PMID:15170098|PMID:15358693|PMID:15591269|PMID:15687131|PMID:15775752|PMID:15965979|PMID:16199547|PMID:16429395|PMID:16429403|PMID:16717148|PMID:16728714|PMID:17515463|PMID:17576681|PMID:18159113|PMID:18221724|PMID:18321866|PMID:18356561|PMID:18364108|PMID:18386374|PMID:18503968|PMID:19206171|PMID:19211612|PMID:19223935|PMID:19555857|PMID:19844076|PMID:20002458|PMID:20096498|PMID:20496075|PMID:20534176|PMID:21737554|PMID:21801371|PMID:22632830|PMID:23139147|PMID:23298310|PMID:23579436|PMID:23590310|PMID:23592887|PMID:23675998|PMID:24033266|PMID:24583436|PMID:24591673|PMID:24853021|PMID:24936649|PMID:25429696|PMID:25612240|PMID:25688877|PMID:25741868|PMID:26387786|PMID:26699722|PMID:27002414|PMID:27453251|PMID:28388887|PMID:28391780|PMID:28492532|PMID:28507310|PMID:29631995|PMID:29650961|PMID:29718794|PMID:30084161|PMID:30578397|PMID:30679663|PMID:31727138|PMID:32581362|PMID:33066286|PMID:33380512|PMID:34400635|PMID:34589526|PMID:34697415|PMID:35504921|PMID:9536098|PMID:9886286
12070199	BMPR2	bone morphogenetic protein receptor type 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:0090040	torsion dystonia 7		ISO	RGD:1313304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22447717
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:0090051	dystonia 23		ISO	RGD:1313304	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Dystonia 23	PMID:25741868
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1313304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17508423
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:543	dystonia		ISO	RGD:1313304	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:16199547|PMID:17576681|PMID:22447717|PMID:25741868|PMID:25778706|PMID:28492532|PMID:35041927|PMID:9536098
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070215	CIZ1	CDKN1A interacting zinc finger protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348731	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17294728
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:altered methylation: :	PMID:20658957|REF_RGD_ID:11251750
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hypermethylation: :	PMID:23683424|REF_RGD_ID:11252195
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:altered methylation:promoter:	PMID:17611569|REF_RGD_ID:11252169
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0060058	lymphoma		ISO	RGD:1348731	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9488045
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:deletion (human)	PMID:20118908|REF_RGD_ID:8552306
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0060318	acute promyelocytic leukemia	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hyprmethylation:promoter:	PMID:12750706|REF_RGD_ID:11252187
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:altered methylation:5'UTR:	PMID:12750705|REF_RGD_ID:11252180
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:0081082	acute myelomonocytic leukemia		ISO	RGD:731792	D	RGD:9068941	20200609	RGD			PMID:14681685|REF_RGD_ID:11252167
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:16799475|REF_RGD_ID:2289684
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:1037	lymphoid leukemia		ISO	RGD:731792	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:10602427|REF_RGD_ID:11252194
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:1067	open-angle glaucoma	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1063192 (human)	PMID:22840486|REF_RGD_ID:8548689
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:16624482|REF_RGD_ID:7248757
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:deletion:urinary bladder	PMID:15590562|REF_RGD_ID:2289696
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:1380	endometrial cancer		ISO	RGD:2324	D	RGD:9068941	20200609	RGD		DNA:deletion (rat)	PMID:18558284|REF_RGD_ID:2316081
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:1686	glaucoma		ISO	RGD:1348731	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532571
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin	PMID:18564286|REF_RGD_ID:8548686
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder	PMID:11720438|REF_RGD_ID:2289697
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD			PMID:12203782|REF_RGD_ID:2296066
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1348731	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578366|PMID:19578367
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:3393	coronary artery disease		ISO	RGD:1348731	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104008|PMID:34961328
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs615552, rs573687 (human)	PMID:23361049|REF_RGD_ID:7248756
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:11445839|REF_RGD_ID:13673922
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:2324	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity, deletion	PMID:10391689|REF_RGD_ID:7248758
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348731	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:8743	erythema infectiosum		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		associated with Leukemia, Myeloid, Acute;DNA:hypermethylation:promoter:	PMID:18384396|REF_RGD_ID:11252189
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17632454|REF_RGD_ID:2289695
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9000046	Poisoning		ISO	RGD:1348731	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20044985
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypermethylation, decreased expression:promoter, ovary	PMID:16000597|REF_RGD_ID:2296065
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17632454|REF_RGD_ID:2289695
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9003566	Mesothelioma		ISO	RGD:2324	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:20065947|REF_RGD_ID:7248760
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2324	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity	PMID:16527513|REF_RGD_ID:1578522
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1348731	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs615552, rs573687 (human)	PMID:23361049|REF_RGD_ID:7248756
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:granulocyte,monocyte:	PMID:9001419|REF_RGD_ID:11252196
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731792	D	RGD:9068941	20200609	RGD			PMID:14681685|REF_RGD_ID:11252167
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:deletion: :	PMID:11064355|REF_RGD_ID:11251749
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:15863205|REF_RGD_ID:11252161
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hypermethylation: :	PMID:25616284|REF_RGD_ID:11251739
12070267	CDKN2B	cyclin dependent kinase inhibitor 2B	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1348731	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:	PMID:27168825|REF_RGD_ID:11252164
12070277	PRDM1	PR/SET domain 1	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:22321048|REF_RGD_ID:150530470
12070277	PRDM1	PR/SET domain 1	gene	DOID:0060058	lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323391	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12070277	PRDM1	PR/SET domain 1	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:24438193|REF_RGD_ID:150530467
12070277	PRDM1	PR/SET domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070277	PRDM1	PR/SET domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070277	PRDM1	PR/SET domain 1	gene	DOID:1115	sarcoma		ISO	RGD:1323391	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
12070277	PRDM1	PR/SET domain 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:28378641|REF_RGD_ID:150530469
12070277	PRDM1	PR/SET domain 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12070277	PRDM1	PR/SET domain 1	gene	DOID:1909	melanoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12070277	PRDM1	PR/SET domain 1	gene	DOID:3275	thymoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:28378641|REF_RGD_ID:150530469
12070277	PRDM1	PR/SET domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070277	PRDM1	PR/SET domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:27993330
12070277	PRDM1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		associated with hepatitis B;	PMID:31100710|REF_RGD_ID:150530465
12070277	PRDM1	PR/SET domain 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		associated with hepatitis B;DNA:SNP: :rs1010273(human)	PMID:31376415|REF_RGD_ID:150530466
12070277	PRDM1	PR/SET domain 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323391	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:19898481|PMID:20453842|PMID:23143596|PMID:36181686
12070277	PRDM1	PR/SET domain 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
12070277	PRDM1	PR/SET domain 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1323391	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: therapeutic	PMID:36181686
12070277	PRDM1	PR/SET domain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12070277	PRDM1	PR/SET domain 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1323391	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:33109608
12070277	PRDM1	PR/SET domain 1	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1323391	D	RGD:9068941	20211210	RGD			PMID:31100710|REF_RGD_ID:150530465
12070277	PRDM1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195
12070277	PRDM1	PR/SET domain 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323392	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12070277	PRDM1	PR/SET domain 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323391	D	RGD:9068941	20211210	RGD		mRNA:increased expression:colorectum:	PMID:32393998|REF_RGD_ID:150530478
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350948	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:1324	lung cancer		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:3275	thymoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1350948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070303	CDC42BPG	CDC42 binding protein kinase gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070351	TMC1	transmembrane channel like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070351	TMC1	transmembrane channel like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:18616530|PMID:19187973|PMID:21917145|PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:16134132|PMID:16287143|PMID:18616530|PMID:19187973|PMID:23767834|PMID:24033266|PMID:24416283|PMID:25741868|PMID:26467025|PMID:26879195|PMID:26969326|PMID:28492532|PMID:28501645|PMID:29654653|PMID:30303587|PMID:33524517|PMID:34416374|PMID:34523024|PMID:36597107
12070351	TMC1	transmembrane channel like 1	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness	PMID:16287143|PMID:25741868|PMID:26969326|PMID:28492532|PMID:29654653|PMID:34416374|PMID:36597107
12070351	TMC1	transmembrane channel like 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:11850618|PMID:16199547|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21250555|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:31028865|PMID:31379920|PMID:31541171|PMID:31854501|PMID:32747562|PMID:34523024
12070351	TMC1	transmembrane channel like 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:7240710	20180130	OMIM			
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11	PMID:11850618|PMID:15605408|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17576681|PMID:17877751|PMID:18259073|PMID:18414213|PMID:18616530|PMID:19187973|PMID:20373850|PMID:21117948|PMID:21250555|PMID:21252500|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23208854|PMID:23767834|PMID:23804846|PMID:24033266|PMID:24416283|PMID:24498627|PMID:24875298|PMID:24933710|PMID:24949729|PMID:25074487|PMID:25423259|PMID:25491636|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26561413|PMID:26879195|PMID:26969326|PMID:27068579|PMID:28000701|PMID:28492532|PMID:28501645|PMID:29178603|PMID:29533536|PMID:29654653|PMID:30303587|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31541171|PMID:31814694|PMID:31854501|PMID:32747562|PMID:32860223|PMID:33095980|PMID:33111345|PMID:33168709|PMID:33524517|PMID:33724713|PMID:34416374|PMID:34523024|PMID:34857896|PMID:35407445|PMID:36515421|PMID:36597107|PMID:9536098
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 7	PMID:11850618|PMID:16134132|PMID:16199547|PMID:16287143|PMID:18616530|PMID:21250555|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26561413|PMID:27838790|PMID:28000701|PMID:28492532|PMID:29533536|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31176026|PMID:31541171|PMID:33095980|PMID:33111345|PMID:33352559|PMID:33423255|PMID:33724713|PMID:34523024
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:1318596	D	RGD:7240710	20180130	OMIM			
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110563	autosomal dominant nonsyndromic deafness 36		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 36 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 36 | ClinVar Annotator: match by term: TMC1-related condition	PMID:11850618|PMID:15354000|PMID:16134132|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19180119|PMID:19187973|PMID:20373850|PMID:21250555|PMID:21917145|PMID:22105175|PMID:22607986|PMID:23767834|PMID:23804846|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25388789|PMID:25741868|PMID:26011067|PMID:26467025|PMID:26561413|PMID:26969326|PMID:27838790|PMID:28492532|PMID:28501645|PMID:29178603|PMID:29196752|PMID:29533536|PMID:29654653|PMID:30311386|PMID:30896630|PMID:31028865|PMID:31176026|PMID:31541171|PMID:31854501|PMID:32747562|PMID:33095980|PMID:33111345|PMID:33352559|PMID:33423255|PMID:33524517|PMID:33724713|PMID:34416374|PMID:34523024|PMID:34593925|PMID:34857896|PMID:36515421|PMID:36597107|PMID:38066485
12070351	TMC1	transmembrane channel like 1	gene	DOID:0110909	inflammatory bowel disease 25		ISO	RGD:1318596	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 25, early onset, autosomal recessive	PMID:25741868|PMID:26011067|PMID:28492532
12070351	TMC1	transmembrane channel like 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318596	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:25741868|PMID:30311386|PMID:40377830
12070351	TMC1	transmembrane channel like 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:1324	lung cancer		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070351	TMC1	transmembrane channel like 1	gene	DOID:1826	epilepsy		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070351	TMC1	transmembrane channel like 1	gene	DOID:480	movement disease		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
12070351	TMC1	transmembrane channel like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12070351	TMC1	transmembrane channel like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070351	TMC1	transmembrane channel like 1	gene	DOID:630	genetic disease		ISO	RGD:1318596	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12070351	TMC1	transmembrane channel like 1	gene	DOID:630	genetic disease		ISO	RGD:1318596	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11850623|PMID:23871232|PMID:24033266|PMID:24827932|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36515421
12070351	TMC1	transmembrane channel like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12070351	TMC1	transmembrane channel like 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:24033266
12070351	TMC1	transmembrane channel like 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318596	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:11850618|PMID:15354000|PMID:16199547|PMID:16287143|PMID:17250663|PMID:17877751|PMID:18414213|PMID:18616530|PMID:19180119|PMID:19187973|PMID:20373850|PMID:21250555|PMID:22105175|PMID:22607986|PMID:23767834|PMID:24033266|PMID:24949729|PMID:25074487|PMID:25388789|PMID:25741868|PMID:28492532|PMID:30303587|PMID:30311386|PMID:31028865|PMID:31379920|PMID:31541171|PMID:31854501|PMID:32747562|PMID:34523024
12070351	TMC1	transmembrane channel like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070351	TMC1	transmembrane channel like 1	gene	DOID:9008681	Deafness		ISO	RGD:1318596	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:11850618|PMID:16199547|PMID:22105175|PMID:25741868|PMID:28492532|PMID:30303587|PMID:31379920
12070351	TMC1	transmembrane channel like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070374	ZSWIM4	zinc finger SWIM-type containing 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1345804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070396	IER2	immediate early response 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1343257	D	RGD:9068941	20220818	RGD		protein:increased expression:colon (human)	PMID:22120713|REF_RGD_ID:153323322
12070396	IER2	immediate early response 2	gene	DOID:0070323	childhood acute myeloid leukemia		ISO	RGD:1343257	D	RGD:9068941	20220818	RGD		mRNA:increased expression:bone marrow (human)	PMID:34702297|REF_RGD_ID:153323323
12070396	IER2	immediate early response 2	gene	DOID:0080600	COVID-19		ISO	RGD:1343257	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12070396	IER2	immediate early response 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1343257	D	RGD:9068941	20220818	RGD		mRNA:increased expression:skin (human)	PMID:34611309|REF_RGD_ID:153323325
12070396	IER2	immediate early response 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343257	D	RGD:9068941	20220818	RGD		human cells in mouse model	PMID:32009420|REF_RGD_ID:153323326
12070396	IER2	immediate early response 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1359581	D	RGD:9068941	20220818	RGD			PMID:22120713|REF_RGD_ID:153323322
12070396	IER2	immediate early response 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12070396	IER2	immediate early response 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343257	D	RGD:9068941	20220818	RGD		DNA:hypomethylation:promoter (human)	PMID:34311674|REF_RGD_ID:153323328
12070401	SLC35G2	solute carrier family 35 member G2	gene	DOID:1909	melanoma		ISO	RGD:1314532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
12070410	PPP1R16B	protein phosphatase 1 regulatory subunit 16B	gene	DOID:1324	lung cancer		ISO	RGD:1322272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070410	PPP1R16B	protein phosphatase 1 regulatory subunit 16B	gene	DOID:1909	melanoma		ISO	RGD:1322272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070410	PPP1R16B	protein phosphatase 1 regulatory subunit 16B	gene	DOID:4362	cervical cancer		ISO	RGD:1322272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070410	PPP1R16B	protein phosphatase 1 regulatory subunit 16B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12070410	PPP1R16B	protein phosphatase 1 regulatory subunit 16B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:1909	melanoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:3275	thymoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070431	NAA25	N-alpha-acetyltransferase 25, NatB auxiliary subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070459	RERGL	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12070459	RERGL	RERG like	gene	DOID:10283	prostate cancer		ISO	RGD:1602860	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12070459	RERGL	RERG like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070459	RERGL	RERG like	gene	DOID:3275	thymoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070459	RERGL	RERG like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070459	RERGL	RERG like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070459	RERGL	RERG like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070468	CASP7	caspase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070468	CASP7	caspase 7	gene	DOID:0060186	chemical colitis	treatment	ISO	RGD:1553182	D	RGD:9068941	20200609	RGD			PMID:28740344|REF_RGD_ID:13782278
12070468	CASP7	caspase 7	gene	DOID:1002	endometritis	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:26920733|REF_RGD_ID:13782281
12070468	CASP7	caspase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070468	CASP7	caspase 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1553182	D	RGD:9068941	20200609	RGD			PMID:23470535|REF_RGD_ID:8548491
12070468	CASP7	caspase 7	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:12633148|REF_RGD_ID:13782269
12070468	CASP7	caspase 7	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1298347	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype	PMID:26621834|REF_RGD_ID:11344490
12070468	CASP7	caspase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070468	CASP7	caspase 7	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620944	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:29659443|REF_RGD_ID:13782273
12070468	CASP7	caspase 7	gene	DOID:12306	vitiligo		ISO	RGD:1298347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
12070468	CASP7	caspase 7	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:23979166|REF_RGD_ID:13209143
12070468	CASP7	caspase 7	gene	DOID:1909	melanoma		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070468	CASP7	caspase 7	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:23979166|REF_RGD_ID:13209143
12070468	CASP7	caspase 7	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:25872160|REF_RGD_ID:13782285
12070468	CASP7	caspase 7	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1298347	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2227310 (human)	PMID:20661084|REF_RGD_ID:13434908
12070468	CASP7	caspase 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12070468	CASP7	caspase 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070468	CASP7	caspase 7	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:29781318|REF_RGD_ID:13782341
12070468	CASP7	caspase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1298347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070468	CASP7	caspase 7	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:18785314|REF_RGD_ID:5684540
12070468	CASP7	caspase 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1298347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12070468	CASP7	caspase 7	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:20702827|REF_RGD_ID:5684535
12070468	CASP7	caspase 7	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:17646170|REF_RGD_ID:5684537
12070468	CASP7	caspase 7	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:28456626|REF_RGD_ID:13782304
12070468	CASP7	caspase 7	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:29621761|REF_RGD_ID:13782275
12070468	CASP7	caspase 7	gene	DOID:9005172	Lung Neoplasms	disease_progression	ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:23979166|REF_RGD_ID:13209143
12070468	CASP7	caspase 7	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1298347	D	RGD:9068941	20200609	RGD			PMID:23979166|REF_RGD_ID:13209143
12070468	CASP7	caspase 7	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283
12070468	CASP7	caspase 7	gene	DOID:9005930	Endotoxemia		ISO	RGD:1553182	D	RGD:9068941	20200609	RGD			PMID:19168786|REF_RGD_ID:5684539
12070468	CASP7	caspase 7	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:17596683|REF_RGD_ID:5684536
12070468	CASP7	caspase 7	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1298347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14998631
12070468	CASP7	caspase 7	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:29538428|REF_RGD_ID:13782276
12070468	CASP7	caspase 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1298347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16583263
12070468	CASP7	caspase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1298347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12070468	CASP7	caspase 7	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:23032698|REF_RGD_ID:10053698
12070468	CASP7	caspase 7	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:620944	D	RGD:9068941	20200609	RGD			PMID:26550220|REF_RGD_ID:13782284
12070481	CHODL	chondrolectin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070481	CHODL	chondrolectin	gene	DOID:10534	stomach cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070481	CHODL	chondrolectin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070481	CHODL	chondrolectin	gene	DOID:1324	lung cancer		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070481	CHODL	chondrolectin	gene	DOID:1909	melanoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070481	CHODL	chondrolectin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070481	CHODL	chondrolectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070481	CHODL	chondrolectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:0081230	autosomal recessive intellectual developmental disorder 69		ISO	RGD:1317955	D	RGD:7240710	20190424	OMIM			
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:0081230	autosomal recessive intellectual developmental disorder 69		ISO	RGD:1317955	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 69 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: ZBTB11-related condition	PMID:25741868
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:3070	high grade glioma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317955	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1317955	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1317955	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12070501	ZBTB11	zinc finger and BTB domain containing 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1317955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypochromic microcytic anemia	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1351725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:0111278	histiocytosis-lymphadenopathy plus syndrome		ISO	RGD:1351725	D	RGD:7240710	20180130	OMIM			
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:0111278	histiocytosis-lymphadenopathy plus syndrome		ISO	RGD:1351725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asrar Facharzt Haque syndrome | ClinVar Annotator: match by term: H syndrome | ClinVar Annotator: match by term: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME | ClinVar Annotator: match by term: Histiocytosis-lymphadenopathy plus syndrome	PMID:16199547|PMID:17461801|PMID:17576681|PMID:18410979|PMID:18414213|PMID:18940313|PMID:19336477|PMID:19889517|PMID:20140240|PMID:20199539|PMID:20595384|PMID:2061936|PMID:20619369|PMID:21178579|PMID:21888995|PMID:22238637|PMID:22653152|PMID:22679148|PMID:22875837|PMID:22989030|PMID:23406517|PMID:23530176|PMID:23789599|PMID:24172204|PMID:24894595|PMID:25741868|PMID:25963354|PMID:25967258|PMID:26074390|PMID:27143505|PMID:27215564|PMID:27364927|PMID:28492532|PMID:28554179|PMID:28842327|PMID:29041934|PMID:29751792|PMID:29808591|PMID:30537558|PMID:30783801|PMID:31276222|PMID:31464584|PMID:32151906|PMID:33029882|PMID:33947670|PMID:34657628|PMID:34686905|PMID:36110220|PMID:37529453|PMID:38965556|PMID:9536098
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:1115	sarcoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:11830	myopia		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:17461801|PMID:19336477|PMID:20595384|PMID:25741868|PMID:28492532|PMID:28554179|PMID:33947670
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:1682	congenital heart disease		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:1924	hypogonadism		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:25741868|PMID:28492532|PMID:28842327|PMID:29751792|PMID:31464584
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:3405	histiocytosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22238637
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:420	hypertrichosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:630	genetic disease		ISO	RGD:1351725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9000197	Edema		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Edema	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9001904	Sinus Histiocytosis		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20140240
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18940313|PMID:19336477|PMID:20140240|PMID:20595384|PMID:2061936|PMID:20619369|PMID:25741868|PMID:28492532|PMID:29041934|PMID:33029882
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1351725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:25741868|PMID:28492532|PMID:37483481|PMID:38641907
12070519	SLC29A3	solute carrier family 29 member 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1351725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336477|PMID:20140240
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070532	POGLUT3	protein O-glucosyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:10283	prostate cancer		ISO	RGD:737003	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:10283	prostate cancer		ISO	RGD:737003	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:10534	stomach cancer		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:1115	sarcoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:1612	breast cancer	severity	ISO	RGD:737003	D	RGD:9068941	20200609	RGD		protein:increased expression:breast (human)	PMID:21040551|REF_RGD_ID:9681004
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:3275	thymoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:737003	D	RGD:9068941	20200609	RGD		protein:decreased expression:testes (human)	PMID:23707616|REF_RGD_ID:9681005
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:737003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:737003	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070553	KAT7	lysine acetyltransferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0111862	congenital bilateral absence of vas deferens		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital bilateral absence of vas deferens	PMID:25741868
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0111863	X-linked congenital bilateral absence of vas deferens		ISO	RGD:735317	D	RGD:7240710	20200619	OMIM			
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0111863	X-linked congenital bilateral absence of vas deferens		ISO	RGD:735317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADGRG2-related condition | ClinVar Annotator: match by term: VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF, X-LINKED | ClinVar Annotator: match by term: Vas deferens, congenital bilateral aplasia of, X-linked	PMID:25741868|PMID:27476656|PMID:28492532
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation	PMID:25741868
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:4362	cervical cancer		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:5041	esophageal cancer		ISO	RGD:735317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:5223	infertility		ISO	RGD:735317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: infertility	PMID:25741868
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:630	genetic disease		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:8398	osteoarthritis		ISO	RGD:735317	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070577	ADGRG2	adhesion G protein-coupled receptor G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070611	CHRAC1	chromatin accessibility complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:735914	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:1115	sarcoma		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:735914	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070621	SLC24A3	solute carrier family 24 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070652	IL7R	interleukin 7 receptor	gene	DOID:0051062	ischemic stroke		ISO	RGD:1309776	D	RGD:9068941	20260611	RGD		protein:increased expression:cerebral cortex:	PMID:30676545|REF_RGD_ID:151347693
12070652	IL7R	interleukin 7 receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1320295	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12070652	IL7R	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:7240710	20250305	OMIM			
12070652	IL7R	interleukin 7 receptor	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 104 | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17576681|PMID:17827065|PMID:18442948|PMID:18641513|PMID:19763152|PMID:19890784|PMID:20021794|PMID:20307669|PMID:21184155|PMID:21664875|PMID:22039266|PMID:22406018|PMID:23810098|PMID:24033266|PMID:24578017|PMID:24759676|PMID:25046553|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27807805|PMID:27833609|PMID:28492532|PMID:29551298|PMID:30290665|PMID:30778343|PMID:30858051|PMID:31031743|PMID:31379863|PMID:32373116|PMID:32888943|PMID:33040328|PMID:33628209|PMID:34573280|PMID:35418989|PMID:35503492|PMID:38274105|PMID:38587703|PMID:9536098|PMID:9843216
12070652	IL7R	interleukin 7 receptor	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:SNPs,haplotype:IVS,exon:1560 G>A (rs1389832),33 A>G(rs1494555), 1472 A>C (rs1494556)(human)	PMID:18687755|REF_RGD_ID:151347690
12070652	IL7R	interleukin 7 receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21399635
12070652	IL7R	interleukin 7 receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21536738|PMID:35101336
12070652	IL7R	interleukin 7 receptor	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:deletion: :	PMID:29755661|REF_RGD_ID:126779581
12070652	IL7R	interleukin 7 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1320295	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660530|PMID:17660816|PMID:17660817|PMID:19525955
12070652	IL7R	interleukin 7 receptor	gene	DOID:289	endometriosis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12070652	IL7R	interleukin 7 receptor	gene	DOID:3275	thymoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12070652	IL7R	interleukin 7 receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12070652	IL7R	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD			PMID:21159243|REF_RGD_ID:151347686
12070652	IL7R	interleukin 7 receptor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD		DNA:SNPs:: rs1494555,rs7737000(human)	PMID:19505916|REF_RGD_ID:4142793
12070652	IL7R	interleukin 7 receptor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
12070652	IL7R	interleukin 7 receptor	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1320295	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:15661025|PMID:16199547|PMID:16492442|PMID:17201233|PMID:17827065|PMID:18442948|PMID:18641513|PMID:21664875|PMID:22039266|PMID:23810098|PMID:24578017|PMID:24759676|PMID:25255367|PMID:25741868|PMID:26123418|PMID:27593400|PMID:27833609|PMID:28492532|PMID:32373116|PMID:33084842|PMID:34573280|PMID:35503492|PMID:38274105
12070652	IL7R	interleukin 7 receptor	gene	DOID:630	genetic disease		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12070652	IL7R	interleukin 7 receptor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:1320295	D	RGD:9068941	20220204	RGD			PMID:26155428|REF_RGD_ID:151347688
12070652	IL7R	interleukin 7 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
12070652	IL7R	interleukin 7 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12070652	IL7R	interleukin 7 receptor	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1320295	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892159
12070652	IL7R	interleukin 7 receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320295	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
12070652	IL7R	interleukin 7 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070652	IL7R	interleukin 7 receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070652	IL7R	interleukin 7 receptor	gene	DOID:9415	allergic asthma		ISO	RGD:1320295	D	RGD:9068941	20260514	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26999524|REF_RGD_ID:713699936
12070652	IL7R	interleukin 7 receptor	gene	DOID:9538	multiple myeloma		ISO	RGD:1320295	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12070671	PCDH18	protocadherin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070671	PCDH18	protocadherin 18	gene	DOID:10534	stomach cancer		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070671	PCDH18	protocadherin 18	gene	DOID:1115	sarcoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070671	PCDH18	protocadherin 18	gene	DOID:1909	melanoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070671	PCDH18	protocadherin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070671	PCDH18	protocadherin 18	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:1909	melanoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1319873	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319873	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070682	CELF3	CUGBP Elav-like family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0050694	Brown-Vialetto-Van Laere syndrome		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: Brown-Vialetto-Van laere syndrome | ClinVar Annotator: match by term: PONTOBULBAR PALSY WITH DEAFNESS	PMID:20206331|PMID:21512156|PMID:23243084|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:30553531|PMID:34395718|PMID:37116404
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:7240710	20200311	OMIM			
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0080632	Fazio-Londe disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Childhood Progressive Bulbar Palsy | ClinVar Annotator: match by term: Progressive bulbar palsy of childhood	PMID:20206331|PMID:20920669|PMID:21110228|PMID:22273710|PMID:22718020|PMID:22824638|PMID:23243084|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:28492532|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33189404|PMID:34662687
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:7240710	20190320	OMIM			
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:1312203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BROWN-VIALETTO-VAN LAERE SYNDROME 1 | ClinVar Annotator: match by term: Brown-Vialetto-Van Laere syndrome 1 | ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	PMID:16199547|PMID:17576681|PMID:2020633|PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22273710|PMID:22633641|PMID:22718020|PMID:22740598|PMID:22824638|PMID:23243084|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:26072523|PMID:26443808|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29950502|PMID:29961494|PMID:30553531|PMID:33087424|PMID:33189404|PMID:33325104|PMID:34395718|PMID:34662687|PMID:37116404|PMID:9536098
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21512156|PMID:28492532|PMID:28856173
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:1555	urticaria		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:231	motor neuron disease		ISO	RGD:1312203	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Madras motor neuron disease	PMID:25741868|PMID:28492532|PMID:32579787
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:2841	asthma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21512156|PMID:28492532|PMID:28856173
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:3275	thymoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729853
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:630	genetic disease		ISO	RGD:1312203	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20206331|PMID:20920669|PMID:21110228|PMID:21512156|PMID:22824638|PMID:23506902|PMID:23688382|PMID:24033266|PMID:25462087|PMID:25741868|PMID:27777325|PMID:28492532|PMID:28856173|PMID:29053833|PMID:29961494|PMID:33087424|PMID:34395718|PMID:34662687|PMID:37116404
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1312203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21512156|PMID:28492532|PMID:28856173
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vocal cord paresis	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21512156|PMID:28492532|PMID:28856173
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1312203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:21512156|PMID:28492532|PMID:28856173
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070703	SLC52A3	solute carrier family 52 member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21512156|PMID:28492532|PMID:28856173
12070819	CD58	CD58 molecule	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1343400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
12070819	CD58	CD58 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070819	CD58	CD58 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12070819	CD58	CD58 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070819	CD58	CD58 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070819	CD58	CD58 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070819	CD58	CD58 molecule	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12070819	CD58	CD58 molecule	gene	DOID:1909	melanoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070819	CD58	CD58 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070819	CD58	CD58 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1343400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525955|PMID:24076602
12070819	CD58	CD58 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070819	CD58	CD58 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12070819	CD58	CD58 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070819	CD58	CD58 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070819	CD58	CD58 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070852	CAPN6	calpain 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070852	CAPN6	calpain 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070852	CAPN6	calpain 6	gene	DOID:10283	prostate cancer		ISO	RGD:734276	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12070852	CAPN6	calpain 6	gene	DOID:10283	prostate cancer		ISO	RGD:734276	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12070852	CAPN6	calpain 6	gene	DOID:10763	hypertension		ISO	RGD:70960	D	RGD:9068941	20240404	RGD		associated with high salt diet; mRNA:decreased expression:heart (rat)	PMID:15665521|REF_RGD_ID:405101696
12070852	CAPN6	calpain 6	gene	DOID:1324	lung cancer		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070852	CAPN6	calpain 6	gene	DOID:3275	thymoma		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070852	CAPN6	calpain 6	gene	DOID:4990	essential tremor		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
12070852	CAPN6	calpain 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12070852	CAPN6	calpain 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070872	TMEM135	transmembrane protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070872	TMEM135	transmembrane protein 135	gene	DOID:1059	intellectual disability		ISO	RGD:1603382	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12070872	TMEM135	transmembrane protein 135	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070872	TMEM135	transmembrane protein 135	gene	DOID:1115	sarcoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:1324	lung cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070872	TMEM135	transmembrane protein 135	gene	DOID:1909	melanoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:3068	glioblastoma		ISO	RGD:1603382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12070872	TMEM135	transmembrane protein 135	gene	DOID:3070	high grade glioma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12070872	TMEM135	transmembrane protein 135	gene	DOID:3275	thymoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1603382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12070872	TMEM135	transmembrane protein 135	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12070872	TMEM135	transmembrane protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070872	TMEM135	transmembrane protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12070872	TMEM135	transmembrane protein 135	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070872	TMEM135	transmembrane protein 135	gene	DOID:9256	colorectal cancer		ISO	RGD:1603382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070891	GSC	goosecoid homeobox	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070891	GSC	goosecoid homeobox	gene	DOID:9007856	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities		ISO	RGD:736937	D	RGD:7240710	20180130	OMIM			
12070891	GSC	goosecoid homeobox	gene	DOID:9007856	Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities		ISO	RGD:736937	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GSC-related condition | ClinVar Annotator: match by term: SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, AND SKELETAL ABNORMALITIES	PMID:25741868|PMID:28492532
12070891	GSC	goosecoid homeobox	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:736937	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10433910
12070912	GHR	growth hormone receptor	gene	DOID:0050328	congenital hypothyroidism	treatment	ISO	RGD:2687	D	RGD:9068941	20200609	RGD			PMID:21162131|REF_RGD_ID:10003146
12070912	GHR	growth hormone receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070912	GHR	growth hormone receptor	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		Laron syndrome,OMIM:262500;DNA:deletion	PMID:2813379|REF_RGD_ID:1601315
12070912	GHR	growth hormone receptor	gene	DOID:0080010	bone structure disease		ISO	RGD:69149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormal bone structure	PMID:15055350|PMID:25101218|PMID:25741868|PMID:28492532|PMID:8137822
12070912	GHR	growth hormone receptor	gene	DOID:10534	stomach cancer		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070912	GHR	growth hormone receptor	gene	DOID:1115	sarcoma		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070912	GHR	growth hormone receptor	gene	DOID:11476	osteoporosis		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		associated with Cholestasis	PMID:19424739|REF_RGD_ID:10003131
12070912	GHR	growth hormone receptor	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2687	D	RGD:9068941	20200609	RGD		associated with Uremia;protein:altered expression:osteoblast, osteoclast, chondroblast	PMID:17647196|REF_RGD_ID:10003128
12070912	GHR	growth hormone receptor	gene	DOID:12849	autistic disorder		ISO	RGD:69149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17547689
12070912	GHR	growth hormone receptor	gene	DOID:13533	osteopetrosis		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		protein:decreased expression:osteoclast	PMID:14632687|REF_RGD_ID:2307374
12070912	GHR	growth hormone receptor	gene	DOID:13580	cholestasis		ISO	RGD:10644	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver, skeletal muscle:	PMID:15604202|REF_RGD_ID:11567216
12070912	GHR	growth hormone receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:69149	D	RGD:7240710	20180130	OMIM			
12070912	GHR	growth hormone receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:69149	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia	PMID:12910492|PMID:17462934|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7565946|PMID:8504296
12070912	GHR	growth hormone receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:69149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:11502828|PMID:1284474|PMID:17462934|PMID:1999489|PMID:22117696|PMID:2233903|PMID:24664892|PMID:25741868|PMID:28492532|PMID:28870985|PMID:7565946|PMID:8488849|PMID:8504296|PMID:9360502
12070912	GHR	growth hormone receptor	gene	DOID:1612	breast cancer		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:cases versus controls (p<0.01)	PMID:17287408|REF_RGD_ID:2301716
12070912	GHR	growth hormone receptor	gene	DOID:2962	Cockayne syndrome		ISO	RGD:10644	D	RGD:9068941	20200609	RGD			PMID:17326724|REF_RGD_ID:10003139
12070912	GHR	growth hormone receptor	gene	DOID:4362	cervical cancer		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070912	GHR	growth hormone receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:69149	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070912	GHR	growth hormone receptor	gene	DOID:5353	colonic disease		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		associated with Acromegaly;DNA:deletion:exon	PMID:19864451|REF_RGD_ID:10003142
12070912	GHR	growth hormone receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12070912	GHR	growth hormone receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070912	GHR	growth hormone receptor	gene	DOID:630	genetic disease		ISO	RGD:69149	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12070912	GHR	growth hormone receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070912	GHR	growth hormone receptor	gene	DOID:767	muscular atrophy		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		mRNA:increased expression:soleus	PMID:12865352|REF_RGD_ID:2307376
12070912	GHR	growth hormone receptor	gene	DOID:767	muscular atrophy		ISO	RGD:2687	D	RGD:9068941	20220224	RGD		associated with microgravity; mRNA:increased expression:gastrocnemius (rat)	PMID:14638460|REF_RGD_ID:151361116
12070912	GHR	growth hormone receptor	gene	DOID:8398	osteoarthritis		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:23740230|REF_RGD_ID:10003113
12070912	GHR	growth hormone receptor	gene	DOID:8927	learning disability		ISO	RGD:10644	D	RGD:9068941	20260521	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:prefrontal cortex:	PMID:22750159|REF_RGD_ID:11566045
12070912	GHR	growth hormone receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:1999489|PMID:22117696|PMID:25741868|PMID:28492532|PMID:28870985|PMID:8488849|PMID:8504296
12070912	GHR	growth hormone receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:12679928|REF_RGD_ID:2307378
12070912	GHR	growth hormone receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12070912	GHR	growth hormone receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10644	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:10541297|REF_RGD_ID:2307370
12070912	GHR	growth hormone receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:15066219|REF_RGD_ID:2307364
12070912	GHR	growth hormone receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:kidney	PMID:10990443|REF_RGD_ID:2307368
12070912	GHR	growth hormone receptor	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:10644	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:10614635|REF_RGD_ID:2307369
12070912	GHR	growth hormone receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17220348
12070912	GHR	growth hormone receptor	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19524466|REF_RGD_ID:2315620
12070912	GHR	growth hormone receptor	gene	DOID:9004271	Colonic Polyps		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		associated with Acromegaly;DNA:deletion:exon	PMID:19864451|REF_RGD_ID:10003142
12070912	GHR	growth hormone receptor	gene	DOID:9004484	Sepsis		ISO	RGD:2687	D	RGD:9068941	20200609	RGD			PMID:11126270|REF_RGD_ID:2307382
12070912	GHR	growth hormone receptor	gene	DOID:9005077	Joint Instability		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:1999489|PMID:22117696|PMID:25741868|PMID:28492532|PMID:28870985|PMID:8488849|PMID:8504296
12070912	GHR	growth hormone receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:69149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:11502828|PMID:1284474|PMID:17462934|PMID:1999489|PMID:22117696|PMID:2233903|PMID:24664892|PMID:25741868|PMID:28492532|PMID:28870985|PMID:7565946|PMID:8488849|PMID:8504296|PMID:9360502
12070912	GHR	growth hormone receptor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69149	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:7565946
12070912	GHR	growth hormone receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10644	D	RGD:9068941	20200609	RGD			PMID:12529387|REF_RGD_ID:2307365
12070912	GHR	growth hormone receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2687	D	RGD:9068941	20200609	RGD			PMID:7964296|REF_RGD_ID:11567222
12070912	GHR	growth hormone receptor	gene	DOID:9005930	Endotoxemia		ISO	RGD:2687	D	RGD:9068941	20200609	RGD			PMID:12217886|REF_RGD_ID:625688
12070912	GHR	growth hormone receptor	gene	DOID:9005930	Endotoxemia		ISO	RGD:2687	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:12654216|REF_RGD_ID:2307380
12070912	GHR	growth hormone receptor	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		associated with Acromegaly;DNA:deletion:exon:	PMID:19864451|REF_RGD_ID:10003142
12070912	GHR	growth hormone receptor	gene	DOID:9006324	Isolated Growth Hormone Deficiency, Partial		ISO	RGD:69149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: Short stature due to growth hormone secretagogue receptor deficiency	PMID:11502828|PMID:1284474|PMID:17462934|PMID:1999489|PMID:22117696|PMID:2233903|PMID:24664892|PMID:25741868|PMID:28492532|PMID:28870985|PMID:7565946|PMID:8488849|PMID:8504296|PMID:9360502
12070912	GHR	growth hormone receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070912	GHR	growth hormone receptor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69149	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12070912	GHR	growth hormone receptor	gene	DOID:9007303	Idiopathic Short Stature, Autosomal		ISO	RGD:69149	D	RGD:7240710	20180130	OMIM			
12070912	GHR	growth hormone receptor	gene	DOID:9007303	Idiopathic Short Stature, Autosomal		ISO	RGD:69149	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL | ClinVar Annotator: match by term: GROWTH HORMONE INSENSITIVITY, PARTIAL | ClinVar Annotator: match by term: Growth hormone, insensitivity to, partial	PMID:11502828|PMID:1284474|PMID:16199547|PMID:17462934|PMID:1999489|PMID:22117696|PMID:2233903|PMID:24664892|PMID:25741868|PMID:28492532|PMID:28870985|PMID:7565946|PMID:8488849|PMID:8504296|PMID:9140387|PMID:9360502
12070912	GHR	growth hormone receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:69149	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:14594108|PMID:15055350|PMID:1999489|PMID:25101218|PMID:25741868|PMID:28492532|PMID:7565946|PMID:8137822|PMID:8488849
12070912	GHR	growth hormone receptor	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:69149	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:22026923|REF_RGD_ID:11566042
12070912	GHR	growth hormone receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69149	D	RGD:9068941	20200609	RGD		DNA:deletion:exon (human)	PMID:17537658|REF_RGD_ID:2307363
12070912	GHR	growth hormone receptor	gene	DOID:9521	Laron syndrome		ISO	RGD:69149	D	RGD:7240710	20180130	OMIM			
12070912	GHR	growth hormone receptor	gene	DOID:9521	Laron syndrome		ISO	RGD:69149	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Growth hormone insensitivity syndrome | ClinVar Annotator: match by term: LARON SYNDROME | ClinVar Annotator: match by term: LARON SYNDROME WITH ELEVATED SERUM GH-BINDING PROTEIN | ClinVar Annotator: match by term: LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN | ClinVar Annotator: match by term: Laron dwarfism | ClinVar Annotator: match by term: Laron syndrome | ClinVar Annotator: match by term: Laron-type isolated somatotropin defect	PMID:10102073|PMID:10870033|PMID:11468686|PMID:11502828|PMID:11785980|PMID:12423626|PMID:12679461|PMID:1284474|PMID:15055350|PMID:15536163|PMID:15751611|PMID:16199547|PMID:17148568|PMID:17405847|PMID:17462934|PMID:17706034|PMID:1999489|PMID:20962506|PMID:22117696|PMID:2233903|PMID:24335149|PMID:24664892|PMID:25101218|PMID:25411237|PMID:25741868|PMID:28492532|PMID:28743110|PMID:28870985|PMID:31690835|PMID:33912130|PMID:34218547|PMID:36943306|PMID:7565946|PMID:8137822|PMID:8488849|PMID:8504296|PMID:8521189|PMID:9024232|PMID:9024234|PMID:9360502|PMID:9360529|PMID:9661642|PMID:9851797
12070912	GHR	growth hormone receptor	gene	DOID:9669	senile cataract		ISO	RGD:10644	D	RGD:9068941	20200609	RGD			PMID:16129095|REF_RGD_ID:10003112
12070912	GHR	growth hormone receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10644	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney, liver	PMID:11469393|REF_RGD_ID:2307367
12070912	GHR	growth hormone receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69149	D	RGD:9068941	20200609	RGD			PMID:12054124|REF_RGD_ID:2307366
12070939	TJP3	tight junction protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070939	TJP3	tight junction protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070939	TJP3	tight junction protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319483	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12070939	TJP3	tight junction protein 3	gene	DOID:0080600	COVID-19		ISO	RGD:1319483	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12070939	TJP3	tight junction protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12070939	TJP3	tight junction protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070939	TJP3	tight junction protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070939	TJP3	tight junction protein 3	gene	DOID:1909	melanoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070939	TJP3	tight junction protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12070939	TJP3	tight junction protein 3	gene	DOID:3275	thymoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070939	TJP3	tight junction protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12070939	TJP3	tight junction protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070939	TJP3	tight junction protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070939	TJP3	tight junction protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070939	TJP3	tight junction protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12070939	TJP3	tight junction protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070939	TJP3	tight junction protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12070939	TJP3	tight junction protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070939	TJP3	tight junction protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:1115	sarcoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:3070	high grade glioma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:3275	thymoma		ISO	RGD:1346168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1346168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12070965	ATF6B	activating transcription factor 6 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12070986	LSM8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070986	LSM8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:0060058	lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12070986	LSM8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12070986	LSM8	LSM8 homolog, U6 small nuclear RNA associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0090060	Wolcott-Rallison syndrome		ISO	RGD:1354090	D	RGD:7240710	20180130	OMIM			
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:0090060	Wolcott-Rallison syndrome		ISO	RGD:1354090	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2AK3-related condition | ClinVar Annotator: match by term: WOLCOTT-RALLISON SYNDROME | ClinVar Annotator: match by term: Wolcott-Rallison dysplasia | ClinVar Annotator: match by term: Wolcott-Rallison syndrome	PMID:10932183|PMID:11997520|PMID:15220213|PMID:16199547|PMID:17576681|PMID:25741868|PMID:26380986|PMID:26860746|PMID:28492532|PMID:28652565|PMID:31638168|PMID:9536098
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1824	status epilepticus		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16492139
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:70884	D	RGD:9068941	20200903	RGD		protein:increased expression:lung	PMID:32209028|REF_RGD_ID:38549370
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:630	genetic disease		ISO	RGD:1354090	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:65	connective tissue disease		ISO	RGD:1354090	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685912
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1354090	D	RGD:9068941	20200702	RGD		protein:hypophosphorylation:liver:	PMID:26234401|REF_RGD_ID:32716425
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:736260	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:70884	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney	PMID:15936177|REF_RGD_ID:1581062
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1354090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:70884	D	RGD:9068941	20200709	RGD		mRNA,protein:increased expression:chondrocyte	PMID:31007149|REF_RGD_ID:34888237
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1354090	D	RGD:9068941	20200702	RGD			PMID:26234401|REF_RGD_ID:32716425
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1354090	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:25741868|PMID:28492532
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:736260	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
12070998	EIF2AK3	eukaryotic translation initiation factor 2 alpha kinase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1354090	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15483661|REF_RGD_ID:1601017
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1606427	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071035	C25H8orf74	chromosome 25 C8orf74 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071043	IDE	insulin degrading enzyme	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071043	IDE	insulin degrading enzyme	gene	DOID:0050850	diabetic encephalopathy		ISO	RGD:732801	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:27306699|REF_RGD_ID:13792796
12071043	IDE	insulin degrading enzyme	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071043	IDE	insulin degrading enzyme	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12071043	IDE	insulin degrading enzyme	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2861	D	RGD:9068941	20200609	RGD			PMID:26576191|REF_RGD_ID:13792804
12071043	IDE	insulin degrading enzyme	gene	DOID:10534	stomach cancer		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732801	D	RGD:9068941	20200609	RGD			PMID:28164769|REF_RGD_ID:13792824
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732801	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:26963025|REF_RGD_ID:13792798
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732802	D	RGD:9068941	20200609	RGD			PMID:12634421|REF_RGD_ID:737718
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2861	D	RGD:9068941	20200609	RGD			PMID:28157092|PMID:28553348|PMID:29948724|REF_RGD_ID:13792792|REF_RGD_ID:13792800|REF_RGD_ID:13792829
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2861	D	RGD:9068941	20200609	RGD		associated with Insulin Resistance	PMID:28447730|REF_RGD_ID:13792793
12071043	IDE	insulin degrading enzyme	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:732802	D	RGD:9068941	20200609	RGD			PMID:30224067|REF_RGD_ID:13792790
12071043	IDE	insulin degrading enzyme	gene	DOID:1909	melanoma		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071043	IDE	insulin degrading enzyme	gene	DOID:4362	cervical cancer		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071043	IDE	insulin degrading enzyme	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071043	IDE	insulin degrading enzyme	gene	DOID:5041	esophageal cancer		ISO	RGD:732801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071043	IDE	insulin degrading enzyme	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071043	IDE	insulin degrading enzyme	gene	DOID:9002775	Cognitive Dysfunction	treatment	ISO	RGD:732802	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:27102787|REF_RGD_ID:13792826
12071043	IDE	insulin degrading enzyme	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2861	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:29940507|REF_RGD_ID:13792791
12071043	IDE	insulin degrading enzyme	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071043	IDE	insulin degrading enzyme	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071043	IDE	insulin degrading enzyme	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2861	D	RGD:9068941	20200609	RGD		DNA:missense mutations, haplotype:exon:p.H18R, p.A890V (rat)	PMID:10958757|REF_RGD_ID:737717
12071043	IDE	insulin degrading enzyme	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732801	D	RGD:9068941	20200609	RGD		DNA:haplotype::CC haplotype of SNPs rs2209972 and rs1887922 in men of European descent from the Framingham Heart Study	PMID:12765971|REF_RGD_ID:1626697
12071043	IDE	insulin degrading enzyme	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732801	D	RGD:9068941	20240502	RGD		DNA:SNP:cds (rs6583813) (human)	PMID:23776430|REF_RGD_ID:405650683
12071043	IDE	insulin degrading enzyme	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732802	D	RGD:9068941	20200609	RGD			PMID:12634421|REF_RGD_ID:737718
12071043	IDE	insulin degrading enzyme	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:732801	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype::no association with 21 single-marker SNPs or with 13 multi-marker haplotypes in 4206 individuals from Scandinavia and Canada	PMID:16380485|REF_RGD_ID:1626698
12071072	RBIS	ribosomal biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071072	RBIS	ribosomal biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071072	RBIS	ribosomal biogenesis factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071072	RBIS	ribosomal biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:1115	sarcoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317273	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1307843	D	RGD:9068941	20200609	RGD			PMID:19350281|REF_RGD_ID:8693412
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:3275	thymoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:37	skin disease		ISO	RGD:1317273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1307843	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, nucleus	PMID:21545521|REF_RGD_ID:8693413
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1317273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12071080	PIAS1	protein inhibitor of activated STAT 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071103	WRNIP1	WRN helicase interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071103	WRNIP1	WRN helicase interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071103	WRNIP1	WRN helicase interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071103	WRNIP1	WRN helicase interacting protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346094	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071103	WRNIP1	WRN helicase interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071114	ETNK2	ethanolamine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:736395	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa (human)	PMID:26138391|REF_RGD_ID:11046268
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:736395	D	RGD:9068941	20200609	RGD			PMID:22608605|REF_RGD_ID:11046272
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:736395	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:0112004	immunodeficiency 71		ISO	RGD:736395	D	RGD:7240710	20190315	OMIM			
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:0112004	immunodeficiency 71		ISO	RGD:736395	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARPC1B-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA | ClinVar Annotator: match by term: Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease	PMID:17576681|PMID:25741868|PMID:27965109|PMID:28368018|PMID:28492532|PMID:29127144|PMID:32499645|PMID:33679784|PMID:9536098
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:10534	stomach cancer		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gastric epithelium (human)	PMID:15279900|REF_RGD_ID:11046270
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:1909	melanoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736395	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736395	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:4029	gastritis		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter: (human)	PMID:23292007|REF_RGD_ID:11046273
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:5419	schizophrenia		ISO	RGD:736395	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:15098003|REF_RGD_ID:11571619
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33679784|PMID:9536098
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:736395	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:630	genetic disease		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071131	ARPC1B	actin related protein 2/3 complex subunit 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071146	ADCK5	aarF domain containing kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071176	OSGIN2	oxidative stress induced growth inhibitor family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:1115	sarcoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:9008234	Distal Arthrogryposis Type 12		ISO	RGD:1320284	D	RGD:7240710	20231025	OMIM			
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:9008234	Distal Arthrogryposis Type 12		ISO	RGD:1320284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 12 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 12	PMID:25741868
12071187	ADAMTS15	ADAM metallopeptidase with thrombospondin type 1 motif 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:10534	stomach cancer		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:1909	melanoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:3275	thymoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345996	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071198	MCF2	MCF.2 cell line derived transforming sequence	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0050741	alcohol dependence		ISO	RGD:1352888	D	RGD:9068941	20250206	RGD		DNA:SNP:cds:rs12529 (p.H5Q)(human)	PMID:21323680|REF_RGD_ID:597621634
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352888	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1352888	D	RGD:9068941	20200609	RGD		protein:increased expression:myoepithelial cells:	PMID:16735089|REF_RGD_ID:10053629
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:733290	D	RGD:9068941	20200609	RGD			PMID:1665987|REF_RGD_ID:11552589
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0080600	COVID-19		ISO	RGD:1352888	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	treatment	ISO	RGD:1352888	D	RGD:9068941	20200609	RGD			PMID:26116659|REF_RGD_ID:11541128
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25555457
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1352888	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:epithelial cell:	PMID:23196782|REF_RGD_ID:10053626
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10283	prostate cancer		ISO	RGD:1352888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10283	prostate cancer		ISO	RGD:1352888	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1352888	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelium:	PMID:24571686|REF_RGD_ID:10053627
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10534	stomach cancer		ISO	RGD:1352888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10591	pre-eclampsia		ISO	RGD:1352888	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood:	PMID:19681734|REF_RGD_ID:10053633
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:708428	D	RGD:9068941	20200609	RGD			PMID:25876805|REF_RGD_ID:11541124
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16263811|PMID:21262361|PMID:22381227
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:708428	D	RGD:9068941	20200609	RGD			PMID:8402388|REF_RGD_ID:11541125
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:1240	leukemia		ISO	RGD:1352888	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs10508293 (human)	PMID:18339682|REF_RGD_ID:11541126
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:1923	disorder of sexual development		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:289	endometriosis		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532|PMID:25446850
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:5041	esophageal cancer		ISO	RGD:1352888	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:5603	T-cell acute lymphoblastic leukemia	treatment	ISO	RGD:1352888	D	RGD:9068941	20200609	RGD			PMID:26116659|REF_RGD_ID:11541128
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507624|PMID:18306354
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19696165
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16338060
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9008046	Neoplasms, Hormone-Dependent		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492
12071242	AKR1C3	aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)	gene	DOID:9970	obesity		ISO	RGD:1352888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12071272	SLC25A34	solute carrier family 25 member 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071272	SLC25A34	solute carrier family 25 member 34	gene	DOID:4362	cervical cancer		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071272	SLC25A34	solute carrier family 25 member 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071323	DENR	density regulated re-initiation and release factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1351149	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071323	DENR	density regulated re-initiation and release factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071323	DENR	density regulated re-initiation and release factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071344	NLRP10	NLR family pyrin domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1316559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071351	ACTR1B	actin related protein 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071351	ACTR1B	actin related protein 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071351	ACTR1B	actin related protein 1B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1316546	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
12071351	ACTR1B	actin related protein 1B	gene	DOID:1324	lung cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071351	ACTR1B	actin related protein 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071351	ACTR1B	actin related protein 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12071351	ACTR1B	actin related protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071351	ACTR1B	actin related protein 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071351	ACTR1B	actin related protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071365	LSMEM1	leucine rich single-pass membrane protein 1	gene	DOID:3275	thymoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071365	LSMEM1	leucine rich single-pass membrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071365	LSMEM1	leucine rich single-pass membrane protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12071365	LSMEM1	leucine rich single-pass membrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:0060058	lymphoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:1909	melanoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733629	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071373	PLRG1	pleiotropic regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:0081292	traumatic brain injury		ISO	RGD:69230	D	RGD:9068941	20200609	RGD			PMID:20713027|REF_RGD_ID:13830881
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735592	D	RGD:9068941	20200609	RGD			PMID:21223993|REF_RGD_ID:13830879
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:1350432	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1868402 (human)	PMID:23727081|REF_RGD_ID:13830878
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350432	D	RGD:9068941	20200609	RGD			PMID:15012912|REF_RGD_ID:1580709
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735592	D	RGD:9068941	20220825	MouseDO			
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:5419	schizophrenia		ISO	RGD:735592	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1350432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344631
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1350432	D	RGD:9068941	20200806	RGD			PMID:16688406|REF_RGD_ID:1580706
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1350432	D	RGD:9068941	20200806	RGD		DNA:insertion/deletion:promoter:	PMID:16209992|REF_RGD_ID:1580708
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1350432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12071396	PPP3R1	protein phosphatase 3 regulatory subunit B, alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69230	D	RGD:9068941	20200609	RGD			PMID:16214533|REF_RGD_ID:1580707
12071409	TMEM268	transmembrane protein 268	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071409	TMEM268	transmembrane protein 268	gene	DOID:4362	cervical cancer		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071409	TMEM268	transmembrane protein 268	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071409	TMEM268	transmembrane protein 268	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071409	TMEM268	transmembrane protein 268	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071409	TMEM268	transmembrane protein 268	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071430	ASB11	ankyrin repeat and SOCS box containing 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071430	ASB11	ankyrin repeat and SOCS box containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1344351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071430	ASB11	ankyrin repeat and SOCS box containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071430	ASB11	ankyrin repeat and SOCS box containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071451	MIR26B	microRNA mir-26b	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1350106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12071451	MIR26B	microRNA mir-26b	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1350106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
12071451	MIR26B	microRNA mir-26b	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1350106	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12071451	MIR26B	microRNA mir-26b	gene	DOID:6000	congestive heart failure		ISO	RGD:1350106	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12071451	MIR26B	microRNA mir-26b	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1350106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12071451	MIR26B	microRNA mir-26b	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350106	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23922874
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:4362	cervical cancer		ISO	RGD:1602795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071455	LRRC74B	leucine rich repeat containing 74B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071480	LOC102152131	sialic acid-binding Ig-like lectin 14	gene	DOID:1324	lung cancer		ISO	RGD:1353065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071480	LOC102152131	sialic acid-binding Ig-like lectin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071480	LOC102152131	sialic acid-binding Ig-like lectin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071480	LOC102152131	sialic acid-binding Ig-like lectin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071569	CCL14	C-C motif chemokine ligand 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604060	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12071576	BET1L	Bet1 golgi vesicular membrane trafficking protein like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071576	BET1L	Bet1 golgi vesicular membrane trafficking protein like	gene	DOID:13223	uterine fibroid		ISO	RGD:1602713	D	RGD:9068941	20200609	RGD		DNA:SNP:rs2280543(human)	PMID:23892540|REF_RGD_ID:14394614
12071576	BET1L	Bet1 golgi vesicular membrane trafficking protein like	gene	DOID:2870	endometrial adenocarcinoma	disease_progression	ISO	RGD:1602713	D	RGD:9068941	20200609	RGD			PMID:28654152|REF_RGD_ID:14394612
12071576	BET1L	Bet1 golgi vesicular membrane trafficking protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071576	BET1L	Bet1 golgi vesicular membrane trafficking protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050451	Brugada syndrome		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:21349352|PMID:22284586|PMID:22840528|PMID:23963749|PMID:25741868|PMID:25863969|PMID:26016905|PMID:28444220|PMID:28492532|PMID:29247119|PMID:30662450|PMID:30821013|PMID:31130284|PMID:32709127|PMID:34361012|PMID:34426522|PMID:35932045
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050486	exanthem		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:26467025|PMID:28074886|PMID:28492532|PMID:32818936
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050970	spinocerebellar ataxia 19/22		ISO	RGD:68576	D	RGD:7240710	20180130	OMIM			
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0050970	spinocerebellar ataxia 19/22		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 19 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 22 | ClinVar Annotator: match by term: Spinocerebellar ataxia 19 | ClinVar Annotator: match by term: Spinocerebellar ataxia 22 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22	PMID:11310586|PMID:15563876|PMID:17576681|PMID:17581856|PMID:21349352|PMID:21703448|PMID:22284586|PMID:22457051|PMID:22840528|PMID:23280838|PMID:23414114|PMID:25401298|PMID:25741868|PMID:25741869|PMID:26016905|PMID:26374734|PMID:26467025|PMID:28074886|PMID:28444220|PMID:28492532|PMID:28895081|PMID:29053796|PMID:30662450|PMID:30776697|PMID:30847666|PMID:32818936|PMID:32823520|PMID:32921676|PMID:34085946|PMID:34361012|PMID:37446101|PMID:38180701|PMID:9536098
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:68576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28416822|PMID:29892015|PMID:30061737
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0110226	Brugada syndrome 9		ISO	RGD:68576	D	RGD:7240710	20180130	OMIM			
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:0110226	Brugada syndrome 9		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 9 | ClinVar Annotator: match by term: KCND3-related disorder	PMID:15563876|PMID:21349352|PMID:21703448|PMID:22284586|PMID:22457051|PMID:22840528|PMID:23414114|PMID:25741868|PMID:26016905|PMID:26467025|PMID:28074886|PMID:28492532|PMID:29053796|PMID:30662450|PMID:30776697|PMID:32818936|PMID:32823520|PMID:32921676
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:10534	stomach cancer		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:1059	intellectual disability		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:22457051|PMID:25741868|PMID:28492532|PMID:30776697|PMID:32823520|PMID:32921676
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:1115	sarcoma		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:12176	goiter		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:1324	lung cancer		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:1826	epilepsy		ISO	RGD:68576	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:2234	focal epilepsy		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:22457051|PMID:25741868|PMID:28492532|PMID:30776697|PMID:32823520|PMID:32921676
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:4362	cervical cancer		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:543	dystonia		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:6364	migraine		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:870	neuropathy		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9000831	Hypokinesia		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:25741868|PMID:31293010
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9000972	Fever		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9002554	Tachycardia		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868|PMID:26467025|PMID:28074886|PMID:28492532|PMID:32818936
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:68577	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart:	PMID:23747723|REF_RGD_ID:8847123
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:22457051|PMID:25741868|PMID:28492532|PMID:30776697|PMID:32823520|PMID:32921676
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9006065	Arthralgia		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68576	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11310586|PMID:15563876|PMID:25741868|PMID:26374734|PMID:26467025|PMID:28492532
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9007356	Eczema		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
12071595	KCND3	potassium voltage-gated channel subfamily D member 3	gene	DOID:9007722	Myoclonus		ISO	RGD:68576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:1324	lung cancer		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:3275	thymoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:4500	hypokalemia		ISO	RGD:620569	D	RGD:9068941	20200609	RGD			PMID:9729517|REF_RGD_ID:13838663
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:734042	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071613	ATP12A	ATPase H+/K+ transporting non-gastric alpha2 subunit	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:620569	D	RGD:9068941	20200609	RGD			PMID:23320804|REF_RGD_ID:13838660
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:10534	stomach cancer		ISO	RGD:736081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:736081	D	RGD:9068941	20200609	RGD			PMID:114750|REF_RGD_ID:5688374
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:10763	hypertension		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:aorta	PMID:16371063|REF_RGD_ID:1625770
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:10763	hypertension		ISO	RGD:736081	D	RGD:9068941	20200609	RGD			PMID:19011682|REF_RGD_ID:5688340
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:15795180|REF_RGD_ID:5508374
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:13948	bladder neck obstruction		ISO	RGD:2055	D	RGD:9068941	20200609	RGD			PMID:20886573|REF_RGD_ID:5688368
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:1596	depressive disorder		ISO	RGD:736082	D	RGD:9068941	20200609	RGD			PMID:19540213|REF_RGD_ID:5688369
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:5082	liver cirrhosis		ISO	RGD:736081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16782692
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:16524515|REF_RGD_ID:5688371
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9000998	Brain Injuries		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		mRNA:increased expression:frontal cortex	PMID:20974230|REF_RGD_ID:5688366
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:dorsal root ganglion	PMID:10841349|REF_RGD_ID:5688377
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2055	D	RGD:9068941	20200609	RGD			PMID:17054657|REF_RGD_ID:1625775
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19133277
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9006024	Hypotension		ISO	RGD:2055	D	RGD:9068941	20200609	RGD			PMID:12433595|REF_RGD_ID:1625780
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:2055	D	RGD:9068941	20200609	RGD			PMID:16890732|REF_RGD_ID:5688352
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:736081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20668454
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9008023	Memory Disorders		ISO	RGD:2055	D	RGD:9068941	20200609	RGD		associated with brain injuries	PMID:20974230|REF_RGD_ID:5688366
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9256	colorectal cancer		ISO	RGD:736081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12071640	ADRA1A	adrenoceptor alpha 1A	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:736081	D	RGD:9068941	20231228	RGD		DNA:SNP:exon 4: p.R347C (rs1048101) (human)	PMID:33577997|REF_RGD_ID:401940110
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731514	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:10534	stomach cancer		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:1115	sarcoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:1324	lung cancer		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:731514	D	RGD:9068941	20200609	RGD		protein:decreased expression: caudate-putamen, substantia nigra	PMID:23393160|REF_RGD_ID:13838733
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:1909	melanoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:731514	D	RGD:9068941	20200609	RGD			PMID:16819513|REF_RGD_ID:13838725
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:4362	cervical cancer		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:731514	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731514	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071677	AFDN	afadin, adherens junction formation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:1324	lung cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:1909	melanoma		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:2394	ovarian cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:4362	cervical cancer		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12071790	TRIM54	tripartite motif containing 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:12368219|REF_RGD_ID:2293535
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:15166229|REF_RGD_ID:2293534
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:1115	sarcoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:16580389|REF_RGD_ID:2293533
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:1324	lung cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:11561770|REF_RGD_ID:2293536
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1348400	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:11161850|REF_RGD_ID:2293537
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1348400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071803	NCOA4	nuclear receptor coactivator 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071833	TNPO1	transportin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071833	TNPO1	transportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071833	TNPO1	transportin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071833	TNPO1	transportin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071833	TNPO1	transportin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071833	TNPO1	transportin 1	gene	DOID:1909	melanoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071833	TNPO1	transportin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071833	TNPO1	transportin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12071833	TNPO1	transportin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12071833	TNPO1	transportin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12071833	TNPO1	transportin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071833	TNPO1	transportin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12071833	TNPO1	transportin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071833	TNPO1	transportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071833	TNPO1	transportin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071833	TNPO1	transportin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12071833	TNPO1	transportin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071833	TNPO1	transportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071833	TNPO1	transportin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071862	RPL24	ribosomal protein L24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071862	RPL24	ribosomal protein L24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071862	RPL24	ribosomal protein L24	gene	DOID:1909	melanoma		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071862	RPL24	ribosomal protein L24	gene	DOID:5723	optic atrophy		ISO	RGD:731427	D	RGD:9068941	20220825	MouseDO		OMIM:165300 | OMIM:165500 | OMIM:258500 | OMIM:311050 | OMIM:605293 | OMIM:610708	
12071862	RPL24	ribosomal protein L24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071862	RPL24	ribosomal protein L24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071862	RPL24	ribosomal protein L24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071862	RPL24	ribosomal protein L24	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12071872	TPRG1	tumor protein p63 regulated 1	gene	DOID:1115	sarcoma		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071872	TPRG1	tumor protein p63 regulated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071872	TPRG1	tumor protein p63 regulated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1342693	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1342693	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071889	CMTM2	CKLF like MARVEL transmembrane domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342693	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:7240710	20180130	OMIM			
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0110130	Bardet-Biedl syndrome 8		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 8 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 8 | ClinVar Annotator: match by term: TTC8-related condition	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:20177705|PMID:21044901|PMID:21052717|PMID:24033266|PMID:25097241|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30718709|PMID:30886724|PMID:32483926|PMID:32962042|PMID:33138063|PMID:33532864|PMID:33964006|PMID:9536098
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:7240710	20180130	OMIM			
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:0110398	retinitis pigmentosa 51		ISO	RGD:1317152	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 51 | ClinVar Annotator: match by term: Retinitis pigmentosa 51	PMID:16308660|PMID:16877420|PMID:19797195|PMID:20451172|PMID:21052717|PMID:25741868|PMID:25776555|PMID:28492532|PMID:30886724
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:10534	stomach cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30718709
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:16308660|PMID:25097241|PMID:25741868|PMID:28492532|PMID:30718709|PMID:33964006
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1317152	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:14520415|PMID:25741868|PMID:28492532
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:1059	intellectual disability		ISO	RGD:1317152	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:16308660|PMID:17576681|PMID:20177705|PMID:21044901|PMID:24033266|PMID:25741868|PMID:26401321|PMID:28492532|PMID:28914264|PMID:29030401|PMID:30886724|PMID:32962042|PMID:33138063|PMID:9536098
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:1324	lung cancer		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1317152	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:14520415|PMID:16199547|PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:25999674|PMID:28492532|PMID:30886724|PMID:31736247|PMID:31852928|PMID:31951201|PMID:33587123|PMID:34426522|PMID:37031301|PMID:9536098
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:1935	Bardet-Biedl syndrome	susceptibility	ISO	RGD:1317152	D	RGD:9068941	20200609	RGD		DNA:deletions:exon, splice junction :p.E187_Y188del, IVS10+2_+4delTGC	PMID:14520415|REF_RGD_ID:1624198
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1317152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:630	genetic disease		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:8466	retinal degeneration		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy, progressive, TTC8-related	PMID:22065099|PMID:26401321|PMID:26427412|PMID:32962042|PMID:36325094|PMID:37582787|PMID:38028226|PMID:38334230
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16308660|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21052717|PMID:25741868|PMID:28492532|PMID:30886724|PMID:9536098
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071899	TTC8	tetratricopeptide repeat domain 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:2843	long QT syndrome		ISO	RGD:1344986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1344986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:7240710	20210303	OMIM			
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9003293	Li-Campeau Syndrome		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: LI-CAMPEAU SYNDROME | ClinVar Annotator: match by term: Li-Campeau syndrome	PMID:25741868|PMID:33340455
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344986	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071928	UBR7	ubiquitin protein ligase E3 component n-recognin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:731631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15130911
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:731632	D	RGD:9068941	20200609	RGD			PMID:15130911|REF_RGD_ID:1582496
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:731631	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0110367	retinitis pigmentosa 38		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy, progressive, MERTK-related	PMID:25198798|PMID:25517981|PMID:28813472|PMID:38334230
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0110367	retinitis pigmentosa 38		ISO	RGD:731631	D	RGD:7240710	20180130	OMIM			
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0110367	retinitis pigmentosa 38		ISO	RGD:731631	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MERTK-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 38 | ClinVar Annotator: match by term: Retinitis pigmentosa 38	PMID:11062461|PMID:16199547|PMID:16714263|PMID:24154662|PMID:24265693|PMID:25097241|PMID:25326637|PMID:25741868|PMID:26147992|PMID:26263531|PMID:26355662|PMID:26872967|PMID:27160483|PMID:28181551|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30718709|PMID:30851773|PMID:31690835|PMID:31725702|PMID:32783370
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:731631	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:28492532
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731631	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11062461|PMID:11592982|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25741868|PMID:26263531|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31725702|PMID:9536098
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731631	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:25741905|PMID:25741913|PMID:25741914|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:34906470|PMID:36909829|PMID:9536098
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731631	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11062461|PMID:15111602|PMID:16199547|PMID:16714263|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22180149|PMID:22939401|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:26355662|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068140|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31725702|PMID:32036094|PMID:33353011|PMID:34906470|PMID:36909829|PMID:9536098
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731631	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal Recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:11062461|PMID:16199547|PMID:17301963|PMID:17576681|PMID:19956407|PMID:20300561|PMID:22581970|PMID:24265693|PMID:25097241|PMID:25324289|PMID:25525159|PMID:25741868|PMID:26355662|PMID:28492532|PMID:29659094|PMID:30054919|PMID:30718709|PMID:31054281|PMID:31370859|PMID:31429209|PMID:31589614|PMID:31964843|PMID:32036094|PMID:32326409|PMID:32552793|PMID:33353011|PMID:34598035|PMID:34906470|PMID:36460718|PMID:36909829|PMID:9536098
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:731631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:305	carcinoma		ISO	RGD:731631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028587
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:5679	retinal disease		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532|PMID:31370859|PMID:36036427
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:5723	optic atrophy		ISO	RGD:731631	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:22939401|PMID:25741868|PMID:28492532
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:630	genetic disease		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:69283	D	RGD:9068941	20200609	RGD			PMID:11592982|REF_RGD_ID:69668
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:8501	fundus dystrophy		ISO	RGD:731631	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15111602|PMID:16199547|PMID:17576681|PMID:21677792|PMID:22180149|PMID:24265693|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25525159|PMID:25741868|PMID:26103963|PMID:26667666|PMID:26700204|PMID:27208204|PMID:28041643|PMID:28378820|PMID:28462455|PMID:28492532|PMID:29068140|PMID:29074561|PMID:29555955|PMID:29659094|PMID:30416333|PMID:3055739|PMID:30557390|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31736247|PMID:3196484|PMID:31964843|PMID:32036094|PMID:32037395|PMID:32483926|PMID:3253185|PMID:32531858|PMID:32581362|PMID:32783370|PMID:33090715|PMID:33353011|PMID:33921607|PMID:34315337|PMID:34906470|PMID:36284670|PMID:36460718|PMID:36524988|PMID:36819107|PMID:37510321|PMID:9536098
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9003121	Thromboembolism		ISO	RGD:731631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17047157
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:731631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9477	pulmonary embolism		ISO	RGD:731631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19028587
12071943	MERTK	MER proto-oncogene, tyrosine kinase	gene	DOID:9477	pulmonary embolism		ISO	RGD:731632	D	RGD:9068941	20200609	RGD			PMID:15130911|REF_RGD_ID:1582496
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:1909	melanoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:5041	esophageal cancer		ISO	RGD:1314714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12071969	MRPS12	mitochondrial ribosomal protein S12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071979	CAPN5	calpain 5	gene	DOID:0050578	occult macular dystrophy		ISO	RGD:731758	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Occult macular dystrophy	PMID:25741868
12071979	CAPN5	calpain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12071979	CAPN5	calpain 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12071979	CAPN5	calpain 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12071979	CAPN5	calpain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12071979	CAPN5	calpain 5	gene	DOID:1909	melanoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12071979	CAPN5	calpain 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12071979	CAPN5	calpain 5	gene	DOID:3275	thymoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12071979	CAPN5	calpain 5	gene	DOID:5041	esophageal cancer		ISO	RGD:731758	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12071979	CAPN5	calpain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12071979	CAPN5	calpain 5	gene	DOID:630	genetic disease		ISO	RGD:731758	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12071979	CAPN5	calpain 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12071979	CAPN5	calpain 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:24463507|PMID:25741868|PMID:28492532|PMID:37734845|PMID:9536098
12071979	CAPN5	calpain 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12071979	CAPN5	calpain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12071979	CAPN5	calpain 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12071979	CAPN5	calpain 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12071979	CAPN5	calpain 5	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:731758	D	RGD:7240710	20200115	OMIM			
12071979	CAPN5	calpain 5	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:731758	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant neovascular inflammatory vitreoretinopathy | ClinVar Annotator: match by term: CAPN5-related condition | ClinVar Annotator: match by term: Proliferative vitreoretinopathy | ClinVar Annotator: match by term: VITREORETINOPATHY, NEOVASCULAR INFLAMMATORY	PMID:23055945|PMID:24381307|PMID:25741868|PMID:25994508|PMID:28492532|PMID:29472286|PMID:29610848|PMID:30986125
12072007	FBXL14	F-box and leucine rich repeat protein 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072007	FBXL14	F-box and leucine rich repeat protein 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12072007	FBXL14	F-box and leucine rich repeat protein 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1313599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072025	SLC16A12	solute carrier family 16 member 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072025	SLC16A12	solute carrier family 16 member 12	gene	DOID:0070353	cataract 47		ISO	RGD:1606094	D	RGD:7240710	20180130	OMIM			
12072025	SLC16A12	solute carrier family 16 member 12	gene	DOID:0070353	cataract 47		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CATARACT, JUVENILE, WITH MICROCORNEA | ClinVar Annotator: match by term: SLC16A12-related condition	PMID:25741868|PMID:26694549|PMID:28492532|PMID:29088427
12072025	SLC16A12	solute carrier family 16 member 12	gene	DOID:12270	coloboma		ISO	RGD:1606094	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma	PMID:25741868|PMID:28492532
12072025	SLC16A12	solute carrier family 16 member 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072063	RHOV	ras homolog family member V	gene	DOID:10534	stomach cancer		ISO	RGD:1604729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072063	RHOV	ras homolog family member V	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072063	RHOV	ras homolog family member V	gene	DOID:4362	cervical cancer		ISO	RGD:1604729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072070	MYLK	myosin light chain kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072070	MYLK	myosin light chain kinase	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:1322095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0060260	ptosis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0060610	megacystis-microcolon-intestinal hypoperistalsis syndrome		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome	PMID:24033266|PMID:25333361|PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:0080685	aortic dissection		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ascending aortic dissection	PMID:21055718|PMID:25741868|PMID:29544503|PMID:30071989|PMID:39185084
12072070	MYLK	myosin light chain kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1322095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12072070	MYLK	myosin light chain kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1322095	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12072070	MYLK	myosin light chain kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072070	MYLK	myosin light chain kinase	gene	DOID:1115	sarcoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:11155	hypohidrosis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1322095	D	RGD:9068941	20211126	RGD		DNA:missense mutations, silent mutation:CDS:p.H21P, p.P147S, p.T335T (human)	PMID:18828194|REF_RGD_ID:4891491
12072070	MYLK	myosin light chain kinase	gene	DOID:11830	myopia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1205	allergic disease		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15621374
12072070	MYLK	myosin light chain kinase	gene	DOID:12215	oligohydramnios		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:21055718|PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1324	lung cancer		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25637381|PMID:25741868|PMID:25944730|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28492532|PMID:28512736|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:33895855|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27854218|PMID:27879251|PMID:28139901|PMID:28166811|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:31296287|PMID:33895855|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:30755392|PMID:31296287|PMID:33895855|PMID:34422331|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:36973604|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36703223|PMID:36973604|PMID:37921548|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38999368|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944380|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:31589614|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11029314|PMID:16399953|PMID:17576681|PMID:21055718|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:30755392|PMID:31296287|PMID:31589614|PMID:32848021|PMID:33282382|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36703223|PMID:36973604|PMID:37921548|PMID:38296580|PMID:38999368|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30675029|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27153395|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:21055718|PMID:24033266|PMID:25333361|PMID:25637381|PMID:25741868|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28855619|PMID:29269699|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33190788|PMID:34422331|PMID:34498425|PMID:36517271|PMID:36973604|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:14323	Marfan syndrome		ISO	RGD:1322095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1686	glaucoma		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375339
12072070	MYLK	myosin light chain kinase	gene	DOID:178	vascular disease		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18511912
12072070	MYLK	myosin light chain kinase	gene	DOID:1826	epilepsy		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322095	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:21055718|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29543232|PMID:29544503|PMID:29961567
12072070	MYLK	myosin light chain kinase	gene	DOID:1891	optic nerve disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:1909	melanoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072070	MYLK	myosin light chain kinase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:2841	asthma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:2841	asthma	severity	ISO	RGD:1322095	D	RGD:9068941	20260618	RGD		DNA:SNP:intron: rs9840993	PMID:17266121|REF_RGD_ID:736668114
12072070	MYLK	myosin light chain kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10232591
12072070	MYLK	myosin light chain kinase	gene	DOID:3087	gingivitis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1322095	D	RGD:9068941	20230729	RGD		associated with nicotine dependence; DNA:SNP: (rs16834817)	PMID:19706030|REF_RGD_ID:329970276
12072070	MYLK	myosin light chain kinase	gene	DOID:3627	aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial aortic aneurysms	PMID:26017485|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12072070	MYLK	myosin light chain kinase	gene	DOID:4724	brain edema		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19943851
12072070	MYLK	myosin light chain kinase	gene	DOID:480	movement disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:520	aortic disease		ISO	RGD:1322095	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	
12072070	MYLK	myosin light chain kinase	gene	DOID:552	pneumonia		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15863634
12072070	MYLK	myosin light chain kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:65	connective tissue disease		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590
12072070	MYLK	myosin light chain kinase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15621374
12072070	MYLK	myosin light chain kinase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:1322095	D	RGD:9068941	20200609	RGD			PMID:20035030|REF_RGD_ID:4891489
12072070	MYLK	myosin light chain kinase	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:1616651	D	RGD:9068941	20200609	RGD			PMID:20035030|REF_RGD_ID:4891489
12072070	MYLK	myosin light chain kinase	gene	DOID:9000719	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1		ISO	RGD:1322095	D	RGD:7240710	20210602	OMIM			
12072070	MYLK	myosin light chain kinase	gene	DOID:9000719	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 1 | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1	PMID:21055718|PMID:24033266|PMID:25333361|PMID:25741868|PMID:27146836|PMID:28074886|PMID:28139901|PMID:28254189|PMID:28391405|PMID:28492532|PMID:28602422|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29961567|PMID:33895855|PMID:34422331|PMID:36517271|PMID:36973604
12072070	MYLK	myosin light chain kinase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21052790
12072070	MYLK	myosin light chain kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970723|PMID:18710790
12072070	MYLK	myosin light chain kinase	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9001733	Tinnitus		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9003507	Premature Birth		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9004484	Sepsis		ISO	RGD:1322095	D	RGD:9068941	20200609	RGD			PMID:16399953|REF_RGD_ID:1581052
12072070	MYLK	myosin light chain kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10232591|PMID:12970723
12072070	MYLK	myosin light chain kinase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1322095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374788
12072070	MYLK	myosin light chain kinase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1322095	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:16399953|REF_RGD_ID:1581052
12072070	MYLK	myosin light chain kinase	gene	DOID:9005077	Joint Instability		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12072070	MYLK	myosin light chain kinase	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1322095	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9006750	Familial Thoracic Aortic Aneurysm 7		ISO	RGD:1322095	D	RGD:7240710	20180130	OMIM			
12072070	MYLK	myosin light chain kinase	gene	DOID:9006750	Familial Thoracic Aortic Aneurysm 7		ISO	RGD:1322095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 7 | ClinVar Annotator: match by term: AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 7 | ClinVar Annotator: match by term: Familial thoracic aortic aneurysm 7	PMID:11029314|PMID:11096123|PMID:16199547|PMID:17576681|PMID:21055718|PMID:21520333|PMID:24033266|PMID:25326637|PMID:25333361|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25907466|PMID:25944730|PMID:26017485|PMID:26133393|PMID:26854089|PMID:27146836|PMID:27586135|PMID:27879251|PMID:28074886|PMID:28139901|PMID:28254188|PMID:28254189|PMID:28391405|PMID:28401540|PMID:28492532|PMID:28512736|PMID:28550590|PMID:28602422|PMID:28855619|PMID:29269699|PMID:29350269|PMID:29543232|PMID:29544503|PMID:29907982|PMID:29925964|PMID:29961567|PMID:30056620|PMID:30739908|PMID:31296287|PMID:33064175|PMID:33190788|PMID:33895855|PMID:34422331|PMID:34498425|PMID:35830949|PMID:36517271|PMID:36973604|PMID:38296580|PMID:38958168|PMID:9536098
12072070	MYLK	myosin light chain kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072070	MYLK	myosin light chain kinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9007736	Vertigo		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9008421	Epistaxis		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9008615	Familial Thoracic Aortic Aneurysm 1		ISO	RGD:1322095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial thoracic aortic aneurysm	PMID:25637381|PMID:25741868|PMID:28492532|PMID:38958168
12072070	MYLK	myosin light chain kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
12072070	MYLK	myosin light chain kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072070	MYLK	myosin light chain kinase	gene	DOID:9834	hyperopia		ISO	RGD:1322095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12072119	EIF4EBP2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321949	D	RGD:9068941	20220825	MouseDO			
12072119	EIF4EBP2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072119	EIF4EBP2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072119	EIF4EBP2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072119	EIF4EBP2	eukaryotic translation initiation factor 4E binding protein 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:24176905|PMID:25741868|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:1348656	D	RGD:7240710	20180130	OMIM			
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY | ClinVar Annotator: match by term: Hereditary Hypophosphatemic Rickets With Hypercalciuria | ClinVar Annotator: match by term: Hypophosphatemic rickets with hypercalciuria | ClinVar Annotator: match by term: SLC34A3-related condition	PMID:16358214|PMID:16358215|PMID:16849419|PMID:17576681|PMID:18480181|PMID:18523928|PMID:18996815|PMID:19820004|PMID:20074341|PMID:22159077|PMID:22387237|PMID:24176905|PMID:24246249|PMID:24700880|PMID:24825865|PMID:25741868|PMID:26399350|PMID:26789268|PMID:28492532|PMID:29398133|PMID:29505567|PMID:30109410|PMID:30586318|PMID:30798342|PMID:31440709|PMID:31589614|PMID:31672324|PMID:32524022|PMID:32963591|PMID:33223529|PMID:33226606|PMID:34426522|PMID:34633109|PMID:34666334|PMID:34721296|PMID:34746741|PMID:34805638|PMID:35441494|PMID:35663378|PMID:35689455|PMID:36596813|PMID:36699160|PMID:37144129|PMID:37414395|PMID:37680384|PMID:37981601|PMID:38355430|PMID:38364990|PMID:38586466|PMID:39039281|PMID:39256228|PMID:40794449|PMID:9536098
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:1348656	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0080652	calcium oxalate nephrolithiasis		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis, calcium oxalate	PMID:24176905|PMID:25741868|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0110352	retinitis pigmentosa 59		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 59	PMID:25741868
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16358214|PMID:16849419|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29809158|PMID:9536098
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:10609	rickets		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868|PMID:28492532|PMID:31440709|PMID:34805638
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:11199	hypoparathyroidism		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:32524022|PMID:34666334|PMID:34746741|PMID:34805638|PMID:35441494|PMID:37414395|PMID:39256228|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:11476	osteoporosis		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:13189	gout		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gout	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:32524022|PMID:34666334|PMID:34746741|PMID:34805638|PMID:35441494|PMID:37414395|PMID:39256228|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:2841	asthma		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:2975	cystic kidney disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:24176905|PMID:25741868|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:3275	thymoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16849419|PMID:25741868|PMID:28492532|PMID:31672324|PMID:32524022|PMID:33226606|PMID:35689455|PMID:36699160|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:585	nephrolithiasis		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:630	genetic disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31589614|PMID:31672324|PMID:34633109|PMID:37414395|PMID:38586466|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:7177	anal canal squamous cell carcinoma		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal canal squamous cell carcinoma	PMID:24176905|PMID:25741868|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:784	chronic kidney disease		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24176905|PMID:25741868|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:848	arthritis		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthritis	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9000197	Edema		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31440709|PMID:31589614|PMID:31672324|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9001738	Hypercalciuria		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:16199547|PMID:16358214|PMID:16358215|PMID:22159077|PMID:24176905|PMID:24700880|PMID:25525159|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31440709|PMID:31589614|PMID:31672324|PMID:32524022|PMID:34666334|PMID:34746741|PMID:34805638|PMID:35441494|PMID:37414395|PMID:39256228|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:16358214|PMID:22159077|PMID:24176905|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:32524022|PMID:34666334|PMID:34746741|PMID:34805638|PMID:35441494|PMID:37414395|PMID:39256228|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9004552	Genu Varum		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Genu varum	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:16358214|PMID:22159077|PMID:24700880|PMID:25741868|PMID:26399350|PMID:28492532|PMID:29398133|PMID:31672324|PMID:32524022|PMID:34666334|PMID:34746741|PMID:34805638|PMID:35441494|PMID:37414395|PMID:39256228|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16849419|PMID:25741868|PMID:28492532|PMID:31672324|PMID:32524022|PMID:33226606|PMID:35689455|PMID:36699160|PMID:40794449
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1348656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16358214|PMID:16849419|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29809158|PMID:9536098
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	
12072136	SLC34A3	solute carrier family 34 member 3	gene	DOID:9009025	Renal Phosphate Wasting Disorders		ISO	RGD:1348656	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal phosphate wasting	
12072153	DPYSL4	dihydropyrimidinase like 4	gene	DOID:1115	sarcoma		ISO	RGD:737533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072153	DPYSL4	dihydropyrimidinase like 4	gene	DOID:1324	lung cancer		ISO	RGD:737533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072153	DPYSL4	dihydropyrimidinase like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072153	DPYSL4	dihydropyrimidinase like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072153	DPYSL4	dihydropyrimidinase like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733021	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0050925	small intestine carcinoid neuroendocrine tumor		ISO	RGD:69310	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:small intestine tumor	PMID:29154080|REF_RGD_ID:617256274
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		associated with heart valve disease;protein:increased expression:right atrial myocardium	PMID:33236535|REF_RGD_ID:242905189
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:733021	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: therapeutic	PMID:33120864
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:26026792
12072172	SLIT2	slit guidance ligand 2	gene	DOID:0080745	polymyositis		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:muscle	PMID:32213157|REF_RGD_ID:243048425
12072172	SLIT2	slit guidance ligand 2	gene	DOID:10223	dermatomyositis		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:muscle	PMID:32213157|REF_RGD_ID:243048425
12072172	SLIT2	slit guidance ligand 2	gene	DOID:10534	stomach cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:1115	sarcoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:733021	D	RGD:9068941	20230330	RGD		associated with eye disease; protein:increased expression:vitreous	PMID:28973045|REF_RGD_ID:243048421
12072172	SLIT2	slit guidance ligand 2	gene	DOID:1324	lung cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:735484	D	RGD:9068941	20230330	RGD			PMID:25691540|REF_RGD_ID:243048427
12072172	SLIT2	slit guidance ligand 2	gene	DOID:1909	melanoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		protein:increased expression:brain, astrocyte	PMID:27686659|REF_RGD_ID:243048429
12072172	SLIT2	slit guidance ligand 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		protein:increased expression:hippocampus	PMID:26764532|REF_RGD_ID:11573340
12072172	SLIT2	slit guidance ligand 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
12072172	SLIT2	slit guidance ligand 2	gene	DOID:3275	thymoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20153733
12072172	SLIT2	slit guidance ligand 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:69310	D	RGD:9068941	20230406	RGD		mRNA:increased expression:lung	PMID:19944214|REF_RGD_ID:243048459
12072172	SLIT2	slit guidance ligand 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:4362	cervical cancer		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:69310	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney, glomerulus	PMID:15215188|REF_RGD_ID:2316132
12072172	SLIT2	slit guidance ligand 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
12072172	SLIT2	slit guidance ligand 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:630	genetic disease		ISO	RGD:733021	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19100240
12072172	SLIT2	slit guidance ligand 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69310	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:retina	PMID:28973045|REF_RGD_ID:243048421
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69310	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:19783284|REF_RGD_ID:2316127
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69310	D	RGD:9068941	20230401	RGD		mRNA,protein:decreased expression:spinal cord:	PMID:27893610|REF_RGD_ID:243048440
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9000998	Brain Injuries	exacerbates	ISO	RGD:69310	D	RGD:9068941	20230401	RGD			PMID:26550694|REF_RGD_ID:243048437
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:735484	D	RGD:9068941	20230330	RGD		protein:increased expression:left ventricle	PMID:33236535|REF_RGD_ID:242905189
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:69310	D	RGD:9068941	20230330	RGD			PMID:31356825|REF_RGD_ID:242905191
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:69310	D	RGD:9068941	20230401	RGD		mRNA:increased expression:carotid artery	PMID:26841069|REF_RGD_ID:243048443
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:69310	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:liver tumor	PMID:29154080|REF_RGD_ID:617256274
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9008104	Cancer Pain	ameliorates	ISO	RGD:69310	D	RGD:9068941	20230401	RGD			PMID:26738857|REF_RGD_ID:243048441
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072172	SLIT2	slit guidance ligand 2	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:735484	D	RGD:9068941	20220825	MouseDO			
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1604651	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:1324	lung cancer		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis		ISO	RGD:1604651	D	RGD:9068941	20200831	RGD		mRNA:decreased expression: T cell	PMID:20945034|REF_RGD_ID:38549361
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	disease_progression	ISO	RGD:1604651	D	RGD:9068941	20200813	RGD			PMID:28101786|REF_RGD_ID:38456004
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:4362	cervical cancer		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072219	TNFRSF18	TNF receptor superfamily member 18	gene	DOID:9065	leishmaniasis		ISO	RGD:1604651	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20139272
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:1115	sarcoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:1909	melanoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:3070	high grade glioma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:4362	cervical cancer		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:5041	esophageal cancer		ISO	RGD:1350822	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072231	CFAP46	cilia and flagella associated protein 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:10534	stomach cancer		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:1115	sarcoma		ISO	RGD:1603559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:1324	lung cancer		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:1909	melanoma		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:9002791	Microcephaly, Epilepsy, and Diabetes Syndrome		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly, Epilepsy, And Diabetes Syndrome	PMID:40924476
12072290	TMEM167A	transmembrane protein 167A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:0060058	lymphoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:10283	prostate cancer		ISO	RGD:1315991	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12072298	CADM3	cell adhesion molecule 3	gene	DOID:10283	prostate cancer		ISO	RGD:1315991	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:630	genetic disease		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12072298	CADM3	cell adhesion molecule 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072298	CADM3	cell adhesion molecule 3	gene	DOID:9001481	Charcot-Marie-Tooth Disease Axonal Type 2FF		ISO	RGD:1315991	D	RGD:7240710	20210929	OMIM			
12072298	CADM3	cell adhesion molecule 3	gene	DOID:9001481	Charcot-Marie-Tooth Disease Axonal Type 2FF		ISO	RGD:1315991	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2FF	PMID:25741868
12072298	CADM3	cell adhesion molecule 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072315	CCDC160	coiled-coil domain containing 160	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3379453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072315	CCDC160	coiled-coil domain containing 160	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3379453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072315	CCDC160	coiled-coil domain containing 160	gene	DOID:630	genetic disease		ISO	RGD:3379453	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12072315	CCDC160	coiled-coil domain containing 160	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3379453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072321	AMTN	amelotin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072321	AMTN	amelotin	gene	DOID:0080243	amelogenesis imperfecta type 3B		ISO	RGD:1604908	D	RGD:7240710	20190315	OMIM			
12072321	AMTN	amelotin	gene	DOID:0110055	amelogenesis imperfecta type 3A		ISO	RGD:1604908	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta, type 3A	PMID:25741868
12072321	AMTN	amelotin	gene	DOID:2394	ovarian cancer		ISO	RGD:1604908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12072321	AMTN	amelotin	gene	DOID:4362	cervical cancer		ISO	RGD:1604908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072321	AMTN	amelotin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604908	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072321	AMTN	amelotin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:1909	melanoma		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1598133	D	RGD:9068941	20240926	RGD		mRNA,protein:decreased expression:heart	PMID:30144448|REF_RGD_ID:407571674
12072330	DRAM1	DNA damage regulated autophagy modulator 1	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:1605066	D	RGD:9068941	20240926	RGD			PMID:30144448|REF_RGD_ID:407571674
12072349	SLAMF9	SLAM family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072349	SLAMF9	SLAM family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072349	SLAMF9	SLAM family member 9	gene	DOID:1909	melanoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072349	SLAMF9	SLAM family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072349	SLAMF9	SLAM family member 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12072357	PLAC8L1	PLAC8 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072357	PLAC8L1	PLAC8 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:27569545
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:1909	melanoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:303	substance-related disorder		ISO	RGD:1347920	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:3275	thymoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:5419	schizophrenia		ISO	RGD:1347920	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1347920	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27064257
12072367	MACROD2	mono-ADP ribosylhydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:0080600	COVID-19		ISO	RGD:1312447	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:4362	cervical cancer		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12072396	MRPL15	mitochondrial ribosomal protein L15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1615572	D	RGD:9068941	20250605	MouseDO			
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604179	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604179	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072473	NWD1	NACHT and WD repeat domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:0060284	paroxysmal nocturnal hemoglobinuria		ISO	RGD:1316180	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25417052
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3		ISO	RGD:1316180	D	RGD:7240710	20180130	OMIM			
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:0080140	multiple congenital anomalies-hypotonia-seizures syndrome 3		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 | ClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 3 | ClinVar Annotator: match by term: PIGT-related disorder	PMID:17576681|PMID:23636107|PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28327575|PMID:28492532|PMID:30976099|PMID:32220244|PMID:32404165|PMID:32581362|PMID:34046058|PMID:36177944|PMID:9536098
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:10534	stomach cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:1059	intellectual disability		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:10908	hydrocephalus		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:1115	sarcoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:1826	epilepsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27916860|PMID:28327575|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:1909	melanoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:2234	focal epilepsy		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:4362	cervical cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:480	movement disease		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:6039	uveal melanoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:630	genetic disease		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34077496
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9002189	High Myopia		ISO	RGD:1316180	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9004285	Paroxysmal Nocturnal Hemoglobinuria 1		ISO	RGD:1316180	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 1	PMID:25741868
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9005077	Joint Instability		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28327575|PMID:28492532|PMID:30976099|PMID:33620284|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28327575|PMID:28492532|PMID:30976099|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24906948|PMID:25741868|PMID:25943031|PMID:28492532|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316180	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24906948|PMID:25741868|PMID:25943031|PMID:27916860|PMID:28492532|PMID:30976099|PMID:32581362|PMID:34046058
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9008263	Paroxysmal Nocturnal Hemoglobinuria 2		ISO	RGD:1316180	D	RGD:7240710	20180130	OMIM			
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9008263	Paroxysmal Nocturnal Hemoglobinuria 2		ISO	RGD:1316180	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paroxysmal nocturnal hemoglobinuria 2	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12072504	PIGT	phosphatidylinositol glycan anchor biosynthesis class T	gene	DOID:9256	colorectal cancer		ISO	RGD:1316180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
12072547	CASP3	caspase 3	gene	DOID:0051061	stroke		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased activation:cerebral cortex	PMID:18463494|REF_RGD_ID:2293316
12072547	CASP3	caspase 3	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with gastric adenocarcinoma	PMID:29588340|REF_RGD_ID:13792594
12072547	CASP3	caspase 3	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29324390|REF_RGD_ID:13792598
12072547	CASP3	caspase 3	gene	DOID:0060186	chemical colitis	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:28740344|REF_RGD_ID:13782278
12072547	CASP3	caspase 3	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:28338241|REF_RGD_ID:13503338
12072547	CASP3	caspase 3	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:27016191|PMID:28881616|REF_RGD_ID:13503337|REF_RGD_ID:13503339
12072547	CASP3	caspase 3	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:18288275|REF_RGD_ID:2293324
12072547	CASP3	caspase 3	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2275	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
12072547	CASP3	caspase 3	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:2275	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
12072547	CASP3	caspase 3	gene	DOID:1002	endometritis	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26920733|REF_RGD_ID:13782281
12072547	CASP3	caspase 3	gene	DOID:10283	prostate cancer		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:18253123|REF_RGD_ID:2293304
12072547	CASP3	caspase 3	gene	DOID:104	bacterial infectious disease		ISO	RGD:10289	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:16443785|REF_RGD_ID:2311430
12072547	CASP3	caspase 3	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:731002	D	RGD:9068941	20211029	RGD		human cells in mouse model	PMID:26432329|REF_RGD_ID:150520156
12072547	CASP3	caspase 3	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:731002	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886
12072547	CASP3	caspase 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18077176
12072547	CASP3	caspase 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:10319819|PMID:12633148|REF_RGD_ID:13782269|REF_RGD_ID:734692
12072547	CASP3	caspase 3	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29587274|PMID:29642617|PMID:29777699|REF_RGD_ID:13782186|REF_RGD_ID:13782188|REF_RGD_ID:13782291
12072547	CASP3	caspase 3	gene	DOID:10763	hypertension		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:27929425|REF_RGD_ID:13782308
12072547	CASP3	caspase 3	gene	DOID:10763	hypertension	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:20065158|REF_RGD_ID:10053702
12072547	CASP3	caspase 3	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29339218|REF_RGD_ID:13792597
12072547	CASP3	caspase 3	gene	DOID:10854	salivary gland disease		ISO	RGD:10289	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased activity:submandibular gland, acinar cell	PMID:19356238|REF_RGD_ID:2311442
12072547	CASP3	caspase 3	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:17267327|REF_RGD_ID:2298949
12072547	CASP3	caspase 3	gene	DOID:11383	cryptorchidism		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29606031|REF_RGD_ID:13792609
12072547	CASP3	caspase 3	gene	DOID:11383	cryptorchidism		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26050606
12072547	CASP3	caspase 3	gene	DOID:114	heart disease		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Multiple Trauma	PMID:28825094|REF_RGD_ID:13782301
12072547	CASP3	caspase 3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:29659443|REF_RGD_ID:13782273
12072547	CASP3	caspase 3	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26431790|REF_RGD_ID:11537057
12072547	CASP3	caspase 3	gene	DOID:11713	diabetic angiopathy		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
12072547	CASP3	caspase 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:18192848|REF_RGD_ID:2293330
12072547	CASP3	caspase 3	gene	DOID:11996	spermatic cord torsion		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29250764|REF_RGD_ID:13782294
12072547	CASP3	caspase 3	gene	DOID:12858	Huntington's disease		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:15668790|REF_RGD_ID:10413886
12072547	CASP3	caspase 3	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:10888929|REF_RGD_ID:13432082
12072547	CASP3	caspase 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26004897|REF_RGD_ID:13782348
12072547	CASP3	caspase 3	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:16505307|REF_RGD_ID:13503345
12072547	CASP3	caspase 3	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2275	D	RGD:9068941	20250329	RGD			PMID:30926569|REF_RGD_ID:598092600
12072547	CASP3	caspase 3	gene	DOID:1612	breast cancer		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:23979166|REF_RGD_ID:13209143
12072547	CASP3	caspase 3	gene	DOID:1612	breast cancer	severity	ISO	RGD:731002	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:18227733|REF_RGD_ID:2293092
12072547	CASP3	caspase 3	gene	DOID:182	calcinosis		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12072547	CASP3	caspase 3	gene	DOID:1824	status epilepticus		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16679645|PMID:18571097
12072547	CASP3	caspase 3	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:20214503|REF_RGD_ID:10054104
12072547	CASP3	caspase 3	gene	DOID:1875	impotence	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
12072547	CASP3	caspase 3	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:29213335|REF_RGD_ID:13792600
12072547	CASP3	caspase 3	gene	DOID:219	colon cancer		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon	PMID:23979166|REF_RGD_ID:13209143
12072547	CASP3	caspase 3	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:17805550|REF_RGD_ID:13209142
12072547	CASP3	caspase 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:21712070|REF_RGD_ID:10053706
12072547	CASP3	caspase 3	gene	DOID:2316	brain ischemia		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11756504|PMID:17901229
12072547	CASP3	caspase 3	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:18172282|REF_RGD_ID:2293093
12072547	CASP3	caspase 3	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:731002	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12072547	CASP3	caspase 3	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28496315|REF_RGD_ID:13782303
12072547	CASP3	caspase 3	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:731002	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:12107344|REF_RGD_ID:2293309
12072547	CASP3	caspase 3	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:21891976|PMID:23143152|PMID:26868427|REF_RGD_ID:10053704|REF_RGD_ID:10054501|REF_RGD_ID:13782346
12072547	CASP3	caspase 3	gene	DOID:3602	toxic encephalopathy		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21972528
12072547	CASP3	caspase 3	gene	DOID:3669	intermittent claudication		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
12072547	CASP3	caspase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		DNA:SNP: :77G>A (human)	PMID:20661084|REF_RGD_ID:13434908
12072547	CASP3	caspase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:16231180|REF_RGD_ID:13434909
12072547	CASP3	caspase 3	gene	DOID:4079	heart valve disease		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12072547	CASP3	caspase 3	gene	DOID:4362	cervical cancer		ISO	RGD:731002	D	RGD:9068941	20260709	RGD			PMID:18177927|REF_RGD_ID:2298948
12072547	CASP3	caspase 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:17513560|REF_RGD_ID:2293308
12072547	CASP3	caspase 3	gene	DOID:4989	pancreatitis		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:16574987|REF_RGD_ID:2311467
12072547	CASP3	caspase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072547	CASP3	caspase 3	gene	DOID:5082	liver cirrhosis		ISO	RGD:10289	D	RGD:9068941	20200609	RGD		associated with cholestasis	PMID:29105510|REF_RGD_ID:13782297
12072547	CASP3	caspase 3	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29781318|REF_RGD_ID:13782341
12072547	CASP3	caspase 3	gene	DOID:5295	intestinal disease		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:24228095|REF_RGD_ID:10058972
12072547	CASP3	caspase 3	gene	DOID:5327	retinal detachment		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497877
12072547	CASP3	caspase 3	gene	DOID:5434	scrapie		ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:27921253|REF_RGD_ID:13782156
12072547	CASP3	caspase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12072547	CASP3	caspase 3	gene	DOID:557	kidney disease		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29257007|REF_RGD_ID:13782293
12072547	CASP3	caspase 3	gene	DOID:5679	retinal disease		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18836575|REF_RGD_ID:5490154
12072547	CASP3	caspase 3	gene	DOID:5844	myocardial infarction		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450231
12072547	CASP3	caspase 3	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:2275	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
12072547	CASP3	caspase 3	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:27904666|REF_RGD_ID:13782309
12072547	CASP3	caspase 3	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29746994|REF_RGD_ID:13792577
12072547	CASP3	caspase 3	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2275	D	RGD:9068941	20220714	RGD			PMID:29133031|PMID:33841550|REF_RGD_ID:13782296|REF_RGD_ID:152998960
12072547	CASP3	caspase 3	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:2275	D	RGD:9068941	20201002	RGD		protein:increased expression:aorta (rat)	PMID:15238617|REF_RGD_ID:1302825
12072547	CASP3	caspase 3	gene	DOID:7998	hyperthyroidism		ISO	RGD:2275	D	RGD:9068941	20250612	RGD		protein:decreased expression:endometrium, myometrium	PMID:17394799|REF_RGD_ID:2317698
12072547	CASP3	caspase 3	gene	DOID:83	cataract	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23508955|REF_RGD_ID:13782357
12072547	CASP3	caspase 3	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29138829|REF_RGD_ID:13782343
12072547	CASP3	caspase 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24055189
12072547	CASP3	caspase 3	gene	DOID:863	nervous system disease		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12196588
12072547	CASP3	caspase 3	gene	DOID:8947	diabetic retinopathy		ISO	RGD:10289	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19013511|REF_RGD_ID:2311448
12072547	CASP3	caspase 3	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expresssion:retina	PMID:19187597|REF_RGD_ID:2311444
12072547	CASP3	caspase 3	gene	DOID:8947	diabetic retinopathy		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20654064
12072547	CASP3	caspase 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:18378144|PMID:21748659|REF_RGD_ID:10053608|REF_RGD_ID:2293322
12072547	CASP3	caspase 3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14588118
12072547	CASP3	caspase 3	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:27256506|PMID:27339639|REF_RGD_ID:13782345|REF_RGD_ID:13792677
12072547	CASP3	caspase 3	gene	DOID:9000197	Edema		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
12072547	CASP3	caspase 3	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24602480
12072547	CASP3	caspase 3	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:21055654|REF_RGD_ID:13702877
12072547	CASP3	caspase 3	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:24303754|REF_RGD_ID:13702873
12072547	CASP3	caspase 3	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:27184135|PMID:27693786|PMID:29556195|REF_RGD_ID:13702867|REF_RGD_ID:13702870|REF_RGD_ID:13702871
12072547	CASP3	caspase 3	gene	DOID:9000469	Viral Myocarditis	treatment	ISO	RGD:731002	D	RGD:9068941	20200609	RGD			PMID:29977885|REF_RGD_ID:13702866
12072547	CASP3	caspase 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:24484682|REF_RGD_ID:13782354
12072547	CASP3	caspase 3	gene	DOID:9000855	Experimental Radiation Injuries	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:24939579|REF_RGD_ID:13782350
12072547	CASP3	caspase 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18064531|REF_RGD_ID:2293306
12072547	CASP3	caspase 3	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:20888848|REF_RGD_ID:10054247
12072547	CASP3	caspase 3	gene	DOID:9001390	Testis Reperfusion Injury		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26754107|REF_RGD_ID:11555349
12072547	CASP3	caspase 3	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Brain Injuries, Traumatic	PMID:29061477|REF_RGD_ID:13782298
12072547	CASP3	caspase 3	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:10289	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
12072547	CASP3	caspase 3	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased activity:kidney	PMID:19601660|REF_RGD_ID:2311440
12072547	CASP3	caspase 3	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:29606028|REF_RGD_ID:13792586
12072547	CASP3	caspase 3	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:28456626|REF_RGD_ID:13782304
12072547	CASP3	caspase 3	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:22932950|REF_RGD_ID:10054114
12072547	CASP3	caspase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:18063461|REF_RGD_ID:2293307
12072547	CASP3	caspase 3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:23833961|REF_RGD_ID:13702874
12072547	CASP3	caspase 3	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28903333|REF_RGD_ID:13702869
12072547	CASP3	caspase 3	gene	DOID:9002467	Mycoplasma Infections		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20179380
12072547	CASP3	caspase 3	gene	DOID:9002669	Hypoxia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:18466900|REF_RGD_ID:2293315
12072547	CASP3	caspase 3	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17971790
12072547	CASP3	caspase 3	gene	DOID:9002676	Cerebral Hemorrhage	ameliorates	ISO	RGD:2275	D	RGD:9068941	20230504	RGD			PMID:31376096|REF_RGD_ID:329337378
12072547	CASP3	caspase 3	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28096675|REF_RGD_ID:13782306
12072547	CASP3	caspase 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:spinal cord	PMID:18521931|REF_RGD_ID:2311436
12072547	CASP3	caspase 3	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:10289	D	RGD:9068941	20230525	RGD			PMID:35445044|REF_RGD_ID:329812014
12072547	CASP3	caspase 3	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:10289	D	RGD:9068941	20200609	RGD			PMID:18366456|REF_RGD_ID:13209144
12072547	CASP3	caspase 3	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14999069
12072547	CASP3	caspase 3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23046993|REF_RGD_ID:13782359
12072547	CASP3	caspase 3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased activity:cerebral cortex, hippocampus	PMID:18603371|REF_RGD_ID:2311455
12072547	CASP3	caspase 3	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:2275	D	RGD:9068941	20230128	RGD			PMID:21189961|PMID:24089674|PMID:27216999|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782279|REF_RGD_ID:13782292|REF_RGD_ID:155882465
12072547	CASP3	caspase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:18490106|REF_RGD_ID:2293311
12072547	CASP3	caspase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23875703
12072547	CASP3	caspase 3	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29568770|REF_RGD_ID:13792595
12072547	CASP3	caspase 3	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2275	D	RGD:9068941	20241010	RGD			PMID:31828147|REF_RGD_ID:35316072
12072547	CASP3	caspase 3	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29621761|REF_RGD_ID:13782275
12072547	CASP3	caspase 3	gene	DOID:9004484	Sepsis		ISO	RGD:731002	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:16003065|PMID:32062619
12072547	CASP3	caspase 3	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29180187|REF_RGD_ID:13782295
12072547	CASP3	caspase 3	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26238033|REF_RGD_ID:13782174
12072547	CASP3	caspase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:731002	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:32062619
12072547	CASP3	caspase 3	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29755641|REF_RGD_ID:13782288
12072547	CASP3	caspase 3	gene	DOID:9005020	Brain Contusion	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28140659|REF_RGD_ID:13782305
12072547	CASP3	caspase 3	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:20732338|REF_RGD_ID:10053708
12072547	CASP3	caspase 3	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23404339|PMID:26699876|REF_RGD_ID:10053670|REF_RGD_ID:13782283
12072547	CASP3	caspase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased activity:hypothalamus	PMID:19094082|REF_RGD_ID:2311447
12072547	CASP3	caspase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20654064
12072547	CASP3	caspase 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28843149|REF_RGD_ID:13782300
12072547	CASP3	caspase 3	gene	DOID:9005666	Contrast-Induced Nephropathy	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:27781957|REF_RGD_ID:13782262
12072547	CASP3	caspase 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		mRNA:increased expression:diaphragm	PMID:23940949|REF_RGD_ID:10054120
12072547	CASP3	caspase 3	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23151253|REF_RGD_ID:10054101
12072547	CASP3	caspase 3	gene	DOID:9006302	Binge Drinking		ISO	RGD:2275	D	RGD:9068941	20250320	RGD		protein:increased expression:hippocampus	PMID:23102656|REF_RGD_ID:598092481
12072547	CASP3	caspase 3	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2275	D	RGD:9068941	20250313	RGD			PMID:30221701|PMID:33574912|REF_RGD_ID:597830178|REF_RGD_ID:597931096
12072547	CASP3	caspase 3	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12072547	CASP3	caspase 3	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23953793|REF_RGD_ID:10054119
12072547	CASP3	caspase 3	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:28992627|REF_RGD_ID:13782299
12072547	CASP3	caspase 3	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:10289	D	RGD:9068941	20230406	RGD		associated with myocardial infarction	PMID:25726944|REF_RGD_ID:11252030
12072547	CASP3	caspase 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20250329	RGD			PMID:30926569|REF_RGD_ID:598092600
12072547	CASP3	caspase 3	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29748970|REF_RGD_ID:13782289
12072547	CASP3	caspase 3	gene	DOID:9007730	Burns	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:22153006|REF_RGD_ID:10054126
12072547	CASP3	caspase 3	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:23946597|REF_RGD_ID:13782356
12072547	CASP3	caspase 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:18470603|REF_RGD_ID:2293314
12072547	CASP3	caspase 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14998631
12072547	CASP3	caspase 3	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:10289	D	RGD:9068941	20230429	RGD			PMID:30259997|REF_RGD_ID:329337366
12072547	CASP3	caspase 3	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:29538428|REF_RGD_ID:13782276
12072547	CASP3	caspase 3	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12072547	CASP3	caspase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072547	CASP3	caspase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731002	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072547	CASP3	caspase 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:2275	D	RGD:9068941	20201105	RGD		protein:increased expression:ovary	PMID:28412870|REF_RGD_ID:40400904
12072547	CASP3	caspase 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15531508
12072547	CASP3	caspase 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731002	D	RGD:9068941	20200609	RGD		protein:increased activity:pancreatic B cell	PMID:19100955|REF_RGD_ID:2311446
12072547	CASP3	caspase 3	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:2275	D	RGD:9068941	20200609	RGD			PMID:26550220|REF_RGD_ID:13782284
12072547	CASP3	caspase 3	gene	DOID:9743	diabetic neuropathy		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expresssion:sciatic nerve	PMID:19555701|REF_RGD_ID:2311441
12072547	CASP3	caspase 3	gene	DOID:9743	diabetic neuropathy		ISO	RGD:731002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12502508
12072547	CASP3	caspase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2275	D	RGD:9068941	20200609	RGD		protein:increased activity:hippocampus	PMID:15855338|REF_RGD_ID:2311451
12072560	RNF5	ring finger protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072560	RNF5	ring finger protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1352556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072560	RNF5	ring finger protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0111434	optic atrophy 10		ISO	RGD:1348834	D	RGD:7240710	20180130	OMIM			
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:0111434	optic atrophy 10		ISO	RGD:1348834	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES | ClinVar Annotator: match by term: OPTIC ATROPHY 10 WITH OR WITHOUT ATAXIA, MENTAL RETARDATION, AND SEIZURES | ClinVar Annotator: match by term: RTN4IP1-related condition	PMID:25741868|PMID:28492532|PMID:31077085
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:12859	choreatic disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:28492532|PMID:33037779
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1432	blindness		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348834	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:480	movement disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:535	sleep disorder		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:539	ophthalmoplegia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1348834	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510|PMID:32392611|PMID:32855858|PMID:33315831|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26593267|PMID:28492532|PMID:28638143|PMID:29181510|PMID:32392611|PMID:32855858|PMID:33315831|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9000631	Hyper-Beta-Alaninemia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-beta-alaninemia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9007722	Myoclonus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:28492532|PMID:29181510|PMID:33841295
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9649	congenital nystagmus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868
12072574	RTN4IP1	reticulon 4 interacting protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:29181510|PMID:33841295
12072587	SYT5	synaptotagmin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072587	SYT5	synaptotagmin 5	gene	DOID:1909	melanoma		ISO	RGD:731962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:1324	lung cancer		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320950	D	RGD:9068941	20200609	RGD		mRNA:altered expression:multiple (human)	PMID:18519667|REF_RGD_ID:10755689
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:1909	melanoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:3070	high grade glioma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:4362	cervical cancer		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072605	SNRPB2	small nuclear ribonucleoprotein polypeptide B2	gene	DOID:65	connective tissue disease		ISO	RGD:1320950	D	RGD:9068941	20200609	RGD			PMID:2968364|REF_RGD_ID:10448928
12072631	SIRT4	sirtuin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072631	SIRT4	sirtuin 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1310413	D	RGD:9068941	20200609	RGD			PMID:20651844|REF_RGD_ID:9586052
12072631	SIRT4	sirtuin 4	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1321303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27099261
12072631	SIRT4	sirtuin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072631	SIRT4	sirtuin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072631	SIRT4	sirtuin 4	gene	DOID:9001981	Weight Loss		ISO	RGD:1321303	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:35134463
12072631	SIRT4	sirtuin 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27099261
12072631	SIRT4	sirtuin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072631	SIRT4	sirtuin 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1310413	D	RGD:9068941	20200609	RGD			PMID:20651844|REF_RGD_ID:9586052
12072631	SIRT4	sirtuin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:0110852	rhizomelic chondrodysplasia punctata type 2		ISO	RGD:733936	D	RGD:7240710	20180130	OMIM			
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:0110852	rhizomelic chondrodysplasia punctata type 2		ISO	RGD:733936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHAPAT DEFICIENCY | ClinVar Annotator: match by term: GNPAT-related condition | ClinVar Annotator: match by term: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 | ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata type 2	PMID:11152660|PMID:11237722|PMID:17576681|PMID:21990100|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33337545|PMID:34229749|PMID:9536089|PMID:9536098
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:10283	prostate cancer		ISO	RGD:733936	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:10283	prostate cancer		ISO	RGD:733936	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:150	disease of mental health		ISO	RGD:733937	D	RGD:9068941	20220825	MouseDO			
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:1909	melanoma		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:2580	rhizomelic chondrodysplasia punctata		ISO	RGD:733936	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhizomelic chondrodysplasia punctata	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:733936	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:733936	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12072655	GNPAT	glyceronephosphate O-acyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:733936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:1909	melanoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605093	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072682	MTF2	metal response element binding transcription factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072711	PARVB	parvin beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072711	PARVB	parvin beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072711	PARVB	parvin beta	gene	DOID:3275	thymoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072711	PARVB	parvin beta	gene	DOID:4362	cervical cancer		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072711	PARVB	parvin beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322969	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12072711	PARVB	parvin beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072711	PARVB	parvin beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072711	PARVB	parvin beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072711	PARVB	parvin beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072711	PARVB	parvin beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072734	EEPD1	endonuclease/exonuclease/phosphatase family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072745	GPR4	G protein-coupled receptor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072763	ZBTB32	zinc finger and BTB domain containing 32	gene	DOID:0080600	COVID-19		ISO	RGD:1604369	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12072763	ZBTB32	zinc finger and BTB domain containing 32	gene	DOID:10534	stomach cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072763	ZBTB32	zinc finger and BTB domain containing 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072763	ZBTB32	zinc finger and BTB domain containing 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072763	ZBTB32	zinc finger and BTB domain containing 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072790	AMH	anti-Mullerian hormone	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:736161	D	RGD:7240710	20180130	OMIM			
12072790	AMH	anti-Mullerian hormone	gene	DOID:0050791	persistent Mullerian duct syndrome		ISO	RGD:736161	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMH-related condition | ClinVar Annotator: match by term: PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I | ClinVar Annotator: match by term: Persistent Mullerian duct syndrome | ClinVar Annotator: match by term: Persistent oviduct syndrome	PMID:14673134|PMID:22188863|PMID:25741868|PMID:28492532|PMID:28505284|PMID:28528332|PMID:30668521|PMID:30786001|PMID:31277073|PMID:31291191|PMID:32172781|PMID:34810374|PMID:37004205|PMID:8162013
12072790	AMH	anti-Mullerian hormone	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:736161	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12072790	AMH	anti-Mullerian hormone	gene	DOID:0111026	cone-rod dystrophy 20		ISO	RGD:736161	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 20	PMID:25741868
12072790	AMH	anti-Mullerian hormone	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17224152|REF_RGD_ID:1601181
12072790	AMH	anti-Mullerian hormone	gene	DOID:1612	breast cancer	onset	ISO	RGD:736161	D	RGD:9068941	20200609	RGD			PMID:19820206|REF_RGD_ID:2315637
12072790	AMH	anti-Mullerian hormone	gene	DOID:1923	disorder of sexual development	susceptibility	ISO	RGD:736161	D	RGD:9068941	20200609	RGD		Persistent Mullerian Duct Syndrome type I, OMIM:261550;DNA:deletion, nonsense mutation:exon	PMID:1483695|REF_RGD_ID:1601180
12072790	AMH	anti-Mullerian hormone	gene	DOID:2999	granulosa cell tumor	disease_progression	ISO	RGD:736161	D	RGD:9068941	20200609	RGD			PMID:19359032|REF_RGD_ID:2315639
12072790	AMH	anti-Mullerian hormone	gene	DOID:4001	ovarian carcinoma	treatment	ISO	RGD:736161	D	RGD:9068941	20200626	RGD			PMID:16533786|REF_RGD_ID:2315652
12072790	AMH	anti-Mullerian hormone	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736161	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12072790	AMH	anti-Mullerian hormone	gene	DOID:630	genetic disease		ISO	RGD:736161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12072790	AMH	anti-Mullerian hormone	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:736161	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12072790	AMH	anti-Mullerian hormone	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:19424576|REF_RGD_ID:2315638
12072790	AMH	anti-Mullerian hormone	gene	DOID:9970	obesity		ISO	RGD:736161	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17109858|REF_RGD_ID:1601182
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:1909	melanoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072815	GAS2L1	growth arrest specific 2 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:7240710	20180130	OMIM			
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COPROPORPHYRIA | ClinVar Annotator: match by term: COPROPORPHYRIA, DIGENIC | ClinVar Annotator: match by term: CPOX-related condition | ClinVar Annotator: match by term: CPOX-related disorders | ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:11309681|PMID:12181641|PMID:15896662|PMID:17576681|PMID:21103937|PMID:21231929|PMID:24078084|PMID:25741868|PMID:27959697|PMID:28492532|PMID:30476629|PMID:31589614|PMID:33763395|PMID:9536098|PMID:9888388
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:1323470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11831056
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:409	liver disease	susceptibility	ISO	RGD:1323470	D	RGD:9068941	20200609	RGD		Hereditary coproporphyria, OMIM:121300;DNA:transition: :p.G89S	PMID:7849704|REF_RGD_ID:1600955
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:630	genetic disease		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:7240710	20200805	OMIM			
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9001983	Harderoporphyria		ISO	RGD:1323470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HARDEROPORPHYRIA | ClinVar Annotator: match by term: Harderoporphyria	PMID:11309681|PMID:12181641|PMID:17576681|PMID:21231929|PMID:25741868|PMID:27959697|PMID:28492532|PMID:31589614|PMID:33763395|PMID:9454777|PMID:9536098
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1311817	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:9173682|REF_RGD_ID:1600958
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1311817	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, mitochondrial inner membrane (rat)	PMID:19482825|REF_RGD_ID:4144824
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1323471	D	RGD:9068941	20240127	RGD		protein:decreased activity:liver (mouse)	PMID:2079105|REF_RGD_ID:19165350
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072826	CPOX	coproporphyrinogen oxidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:1319551	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:1115	sarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:1324	lung cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:3275	thymoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:4362	cervical cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1319551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9004872	Congenital Infantile Lactic Acidosis		ISO	RGD:1319551	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital lactic acidosis	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319551	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072836	PPP1R12B	protein phosphatase 1 regulatory subunit 12B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731256	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0060868	leukoencephalopathy with vanishing white matter		ISO	RGD:731256	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter	PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070373	leukoencephalopathy with vanishing white matter 2		ISO	RGD:731256	D	RGD:7240710	20230505	OMIM			
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070373	leukoencephalopathy with vanishing white matter 2		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 2 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 2	PMID:11704758|PMID:12707859|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15776425|PMID:16199547|PMID:18519871|PMID:19625339|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042|PMID:37267771
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1	PMID:21307862|PMID:25741868|PMID:25761052|PMID:26740508|PMID:28492532|PMID:33432707|PMID:34745209|PMID:35897042
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:731256	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:11704758|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:1909	melanoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:3275	thymoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:3883	Lynch syndrome		ISO	RGD:11548303	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:11704758|PMID:12707859|PMID:16199547|PMID:25741868|PMID:28492532
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:731256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:731256	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:11704758|PMID:12707859|PMID:15054402|PMID:19625339|PMID:21560189|PMID:22992991|PMID:25741868|PMID:25761052|PMID:28492532|PMID:29706645|PMID:31438897|PMID:34745209
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:630	genetic disease		ISO	RGD:731256	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:731256	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:11704758|PMID:12707859|PMID:14566705|PMID:14993275|PMID:15054402|PMID:15060152|PMID:15136673|PMID:15776425|PMID:18263758|PMID:20301435|PMID:21307862|PMID:21484434|PMID:21560189|PMID:22128017|PMID:22430157|PMID:22729508|PMID:22992991|PMID:24033266|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:27159321|PMID:28041799|PMID:28492532|PMID:29632131|PMID:29700822|PMID:29706645|PMID:30266093|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:11704758|PMID:12707859|PMID:15054402|PMID:16199547|PMID:19625339|PMID:21484434|PMID:21560189|PMID:22992991|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:26740508|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:34745209
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21307862|PMID:21484434|PMID:25031760|PMID:25741868|PMID:25761052|PMID:25843247|PMID:28041799|PMID:28492532|PMID:29700822|PMID:29706645|PMID:31438897|PMID:33432707|PMID:34745209|PMID:35897042
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072894	EIF2B2	eukaryotic translation initiation factor 2B subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072911	LOC491803	melanoma-associated antigen B1	gene	DOID:12849	autistic disorder		ISO	RGD:1350701	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
12072911	LOC491803	melanoma-associated antigen B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:68470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15146459|PMID:18285423|PMID:20647552
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0080479	peroxisome biogenesis disorder 4A		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 4A (Zellweger)	PMID:25741868
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0080487	peroxisome biogenesis disorder 13A		ISO	RGD:68470	D	RGD:7240710	20191002	OMIM			
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:0080487	peroxisome biogenesis disorder 13A		ISO	RGD:68470	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER) | ClinVar Annotator: match by term: PEX14-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 13A (Zellweger)	PMID:25741868|PMID:28492532
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:10534	stomach cancer		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:1324	lung cancer		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:1909	melanoma		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:4362	cervical cancer		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:5119	ovarian cyst		ISO	RGD:68470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:630	genetic disease		ISO	RGD:68470	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:9006158	Peroxisome Biogenesis Disorder, Complementation Group K		ISO	RGD:68470	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group K	PMID:15146459|PMID:16199547|PMID:17576681|PMID:18285423|PMID:25640679|PMID:25741868|PMID:26627464|PMID:28492532|PMID:33547378|PMID:9536098
12072917	PEX14	peroxisomal biogenesis factor 14	gene	DOID:905	Zellweger syndrome		ISO	RGD:68470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15146459|PMID:18285423
12072931	MAX	MYC associated factor X	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12072931	MAX	MYC associated factor X	gene	DOID:0050771	pheochromocytoma		ISO	RGD:731306	D	RGD:7240710	20260812	OMIM			
12072931	MAX	MYC associated factor X	gene	DOID:0050771	pheochromocytoma		ISO	RGD:731306	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pheochromocytoma	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:28152038|PMID:28492532|PMID:35101336|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050771	pheochromocytoma		ISO	RGD:731306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:28152038|PMID:28492532|PMID:34130653|PMID:35101336|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:30455982|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:33606809|PMID:34130653|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:33606809|PMID:34130653|PMID:34439168|PMID:35441217|PMID:38141607|PMID:39279998|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:1459463|PMID:16199547|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33397040|PMID:33493868|PMID:33606809|PMID:34130653|PMID:34439168|PMID:34750850|PMID:35441217|PMID:37529773|PMID:38141607|PMID:39279998|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:1459463|PMID:16199547|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33397040|PMID:33493868|PMID:33606809|PMID:34130653|PMID:34439168|PMID:34750850|PMID:35441217|PMID:37529773|PMID:38141607|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:0050773	paraganglioma		ISO	RGD:731306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:28152038|PMID:28492532|PMID:29909963|PMID:34130653|PMID:35101336
12072931	MAX	MYC associated factor X	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:731306	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:11031250|PMID:24705252|PMID:25741868|PMID:26619011|PMID:27799065|PMID:27903915|PMID:27993330|PMID:28007021|PMID:28492532|PMID:28966033|PMID:29596783|PMID:29872713|PMID:30054853|PMID:31348837|PMID:33056981|PMID:38141607|PMID:40613584
12072931	MAX	MYC associated factor X	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:731306	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:11031250|PMID:24705252|PMID:25741868|PMID:26619011|PMID:27799065|PMID:27903915|PMID:27993330|PMID:28007021|PMID:28492532|PMID:28966033|PMID:29596783|PMID:29872713|PMID:30054853|PMID:31348837|PMID:33056981|PMID:38141607|PMID:40613584
12072931	MAX	MYC associated factor X	gene	DOID:1324	lung cancer		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072931	MAX	MYC associated factor X	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:1730412|PMID:21685915|PMID:22452945|PMID:23551045|PMID:26070438|PMID:28152038|PMID:28492532|PMID:35101336
12072931	MAX	MYC associated factor X	gene	DOID:1596	depressive disorder		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:2030	anxiety disorder		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:2154	nephroblastoma		ISO	RGD:731306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
12072931	MAX	MYC associated factor X	gene	DOID:3275	thymoma		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072931	MAX	MYC associated factor X	gene	DOID:3312	bipolar disorder		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:731306	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:lung	PMID:24362264|REF_RGD_ID:13793386
12072931	MAX	MYC associated factor X	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12072931	MAX	MYC associated factor X	gene	DOID:6331	immature teratoma of ovary		ISO	RGD:731306	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Immature ovarian teratoma	PMID:11031250|PMID:24705252|PMID:25741868|PMID:26619011|PMID:27799065|PMID:27903915|PMID:27993330|PMID:28007021|PMID:28492532|PMID:28966033|PMID:29596783|PMID:29872713|PMID:30054853|PMID:31348837|PMID:33056981|PMID:38141607|PMID:40613584
12072931	MAX	MYC associated factor X	gene	DOID:768	retinoblastoma		ISO	RGD:731306	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinoblastoma	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:769	neuroblastoma		ISO	RGD:731306	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:11031250|PMID:24705252|PMID:25741868|PMID:26619011|PMID:27799065|PMID:27903915|PMID:27993330|PMID:28007021|PMID:28492532|PMID:28966033|PMID:29596783|PMID:29872713|PMID:30054853|PMID:31348837|PMID:33056981|PMID:38141607|PMID:40613584
12072931	MAX	MYC associated factor X	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:9003126	Hallucinations		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:731306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:28152038|PMID:28492532|PMID:29909963|PMID:34130653|PMID:35101336
12072931	MAX	MYC associated factor X	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33606809|PMID:34130653|PMID:34169220|PMID:34439168|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29264463|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33606809|PMID:34130653|PMID:34169220|PMID:34439168|PMID:35441217|PMID:39279998|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27838885|PMID:27903915|PMID:28152038|PMID:28384794|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33493868|PMID:33606809|PMID:34130653|PMID:34169220|PMID:34439168|PMID:35441217|PMID:37529773|PMID:39279998|PMID:7630640|PMID:9115440|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:23666964|PMID:25741868|PMID:26070438|PMID:26269449|PMID:26467025|PMID:27903915|PMID:28152038|PMID:28492532|PMID:28552549|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33367756|PMID:33397040|PMID:33493868|PMID:33606809|PMID:34130653|PMID:34439168|PMID:34750850|PMID:35441217|PMID:37529773|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731306	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1459463|PMID:1730412|PMID:17576681|PMID:21685915|PMID:22452945|PMID:23551045|PMID:25741868|PMID:26070438|PMID:26467025|PMID:27903915|PMID:28152038|PMID:28492532|PMID:29264463|PMID:29909963|PMID:30455982|PMID:30877234|PMID:33219105|PMID:33367756|PMID:33397040|PMID:33493868|PMID:34130653|PMID:34439168|PMID:34750850|PMID:35101336|PMID:37529773|PMID:7630640|PMID:9536098
12072931	MAX	MYC associated factor X	gene	DOID:9007131	Polydactyly-Macrocephaly Syndrome		ISO	RGD:731306	D	RGD:7240710	20260812	OMIM			
12072931	MAX	MYC associated factor X	gene	DOID:9007131	Polydactyly-Macrocephaly Syndrome		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly-macrocephaly syndrome	PMID:11031250|PMID:24705252|PMID:25741868|PMID:26619011|PMID:27799065|PMID:27903915|PMID:27993330|PMID:28007021|PMID:28492532|PMID:28966033|PMID:29596783|PMID:29872713|PMID:30054853|PMID:31348837|PMID:33056981|PMID:38141607|PMID:40613584
12072931	MAX	MYC associated factor X	gene	DOID:9008023	Memory Disorders		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12072931	MAX	MYC associated factor X	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:0050985	spinocerebellar ataxia 38		ISO	RGD:1353049	D	RGD:7240710	20180130	OMIM			
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:0050985	spinocerebellar ataxia 38		ISO	RGD:1353049	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELOVL5-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 38 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 38	PMID:25065913|PMID:25741868|PMID:28492532|PMID:29482223
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:10283	prostate cancer		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:1324	lung cancer		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:1909	melanoma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1332308	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:2661	myoepithelioma		ISO	RGD:1353049	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:3070	high grade glioma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:630	genetic disease		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:8577	ulcerative colitis		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353049	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9001722	Dysarthria		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1353049	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12072958	ELOVL5	ELOVL fatty acid elongase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12072987	RABL2B	RAB, member of RAS oncogene family like 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12072987	RABL2B	RAB, member of RAS oncogene family like 2B	gene	DOID:3275	thymoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12072987	RABL2B	RAB, member of RAS oncogene family like 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12072987	RABL2B	RAB, member of RAS oncogene family like 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12072987	RABL2B	RAB, member of RAS oncogene family like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073110	MRGPRF	MAS related GPR family member F	gene	DOID:10534	stomach cancer		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073110	MRGPRF	MAS related GPR family member F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073110	MRGPRF	MAS related GPR family member F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073129	CBLN1	cerebellin 1 precursor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1348970	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:1115	sarcoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:1909	melanoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073136	LIN9	lin-9 DREAM MuvB core complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1322283	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	PMID:28492532|PMID:30718709
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18310263|PMID:25356976|PMID:25741868|PMID:28492532|PMID:31054281
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy - Rod-cone dysplasia 1	PMID:1081095|PMID:13059279|PMID:13081944|PMID:1323314|PMID:8387203|PMID:8002249|PMID:7796608|PMID:7724547|PMID:7474961|PMID:8544201|PMID:7409013|PMID:6295790|PMID:2895011|PMID:8261797|PMID:9135869|PMID:2558906|PMID:9987922|PMID:15876657|PMID:15580972|PMID:22065099|PMID:24367709|PMID:24581223|PMID:26857842|PMID:29263354|PMID:33432105|PMID:35604672|PMID:34954206|PMID:38028226|PMID:38334230
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy - Rod-cone dysplasia 1a	PMID:22065099|PMID:11124530|PMID:38334230
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1322283	D	RGD:7240710	20180130	OMIM			
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PDE6B-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 40 | ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:16199547|PMID:17576681|PMID:18310263|PMID:18723146|PMID:21655355|PMID:22334370|PMID:24123792|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25999674|PMID:26667666|PMID:26868535|PMID:26872967|PMID:27588261|PMID:27596865|PMID:27898983|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29625443|PMID:30718709|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31877679|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33302505|PMID:33576794|PMID:33673512|PMID:33691693|PMID:34828430|PMID:34906470|PMID:36460718|PMID:36819107|PMID:38219857|PMID:7599633|PMID:8394174|PMID:8595886|PMID:8956055|PMID:9536098
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:1322283	D	RGD:7240710	20180130	OMIM			
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0110863	congenital stationary night blindness autosomal dominant 2		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness autosomal dominant 2 | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE	PMID:18723146|PMID:25097241|PMID:25741868|PMID:26868535|PMID:28492532|PMID:30029497|PMID:30924848|PMID:31877679|PMID:33691693
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:0111009	cone-rod dystrophy 1		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy - Cone-rod dystrophy 1	PMID:15064680|PMID:22065099|PMID:24045995|PMID:30050836|PMID:38028226|PMID:38334230
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10283	prostate cancer		ISO	RGD:1322283	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10283	prostate cancer		ISO	RGD:1322283	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:25999674|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30718709|PMID:30998820|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24828262|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35272565|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10234513|PMID:12525556|PMID:16199547|PMID:17267005|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25356976|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25823529|PMID:25827439|PMID:26155838|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27588261|PMID:27596865|PMID:27874104|PMID:28041643|PMID:28130426|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28912962|PMID:28981474|PMID:29472945|PMID:29785639|PMID:30029497|PMID:30054919|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30998820|PMID:31456290|PMID:31630094|PMID:3203739|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:35272565|PMID:35836572|PMID:36460718|PMID:36819107|PMID:36909829|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9238087|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10234513|PMID:16199547|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:24033266|PMID:24339724|PMID:24625443|PMID:24938718|PMID:25097241|PMID:25324289|PMID:25741868|PMID:25827439|PMID:26155838|PMID:26497376|PMID:27874104|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28912962|PMID:30029497|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31456290|PMID:31630094|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33576794|PMID:33673512|PMID:34906470|PMID:36464167|PMID:36819107|PMID:36909829|PMID:39676705|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:17576681|PMID:18854872|PMID:20591486|PMID:22334370|PMID:24339724|PMID:24625443|PMID:25324289|PMID:25356976|PMID:25741868|PMID:25827439|PMID:26155838|PMID:27874104|PMID:28041643|PMID:28492532|PMID:29785639|PMID:30029497|PMID:30718709|PMID:30998820|PMID:31213501|PMID:31456290|PMID:31630094|PMID:32483926|PMID:32531858|PMID:33090715|PMID:33673512|PMID:34906470|PMID:36464167|PMID:36819107|PMID:36909829|PMID:39676705|PMID:7724547|PMID:8394174|PMID:8595886|PMID:9536098|PMID:9543643
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:1115	sarcoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:1909	melanoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:3275	thymoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:4448	macular degeneration		ISO	RGD:1322283	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25741868|PMID:28492532
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:630	genetic disease		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:8466	retinal degeneration		ISO	RGD:1322283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123450|PMID:17213800|PMID:24586289|PMID:8692941
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:8466	retinal degeneration		ISO	RGD:1322284	D	RGD:9068941	20220825	MouseDO			
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:8499	night blindness		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Night blindness	PMID:18310263|PMID:25356976|PMID:25741868|PMID:28492532|PMID:31054281
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322283	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17267005|PMID:18310263|PMID:18854872|PMID:21655355|PMID:22334370|PMID:24033266|PMID:24265693|PMID:25097241|PMID:25356976|PMID:25472526|PMID:25741868|PMID:25823529|PMID:26667666|PMID:26766544|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28130426|PMID:28492532|PMID:28559085|PMID:28981474|PMID:29641573|PMID:30029497|PMID:30609409|PMID:30646425|PMID:30718709|PMID:30820151|PMID:30924848|PMID:30998820|PMID:31054281|PMID:31429209|PMID:3145629|PMID:31630094|PMID:31964843|PMID:32037395|PMID:3253185|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33302505|PMID:33673512|PMID:33691693|PMID:34721897|PMID:34758253|PMID:34906470|PMID:35836572|PMID:36460718|PMID:36819107|PMID:37094557|PMID:7724547|PMID:8394174|PMID:8595886|PMID:8956055
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:9002189	High Myopia		ISO	RGD:1322283	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	PMID:28492532
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17213800
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322283	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073166	PDE6B	phosphodiesterase 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073192	NPHP1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis | ClinVar Annotator: match by term: Renal dysplasia and retinal aplasia	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:17576681|PMID:17855640|PMID:23559409|PMID:23661369|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:30108342|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
12073192	NPHP1	nephrocystin 1	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS | ClinVar Annotator: match by term: Juvenile nephronophthisis with Leber amaurosis	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:23559409|PMID:28002029|PMID:28492532|PMID:34090716
12073192	NPHP1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:34090716
12073192	NPHP1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
12073192	NPHP1	nephrocystin 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:23559409|PMID:25741868|PMID:25851290|PMID:28002029|PMID:28492532|PMID:33083013|PMID:34031707|PMID:34090716
12073192	NPHP1	nephrocystin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:7240710	20190327	OMIM			
12073192	NPHP1	nephrocystin 1	gene	DOID:0061277	Senior-Loken syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:24746959|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:24746959|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:7240710	20180130	OMIM			
12073192	NPHP1	nephrocystin 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 4 | ClinVar Annotator: match by term: Joubert syndrome 4 | ClinVar Annotator: match by term: Joubert syndrome with renal defect	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32483926|PMID:37230223|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:7240710	20180130	OMIM			
12073192	NPHP1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:10980528|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:23661369|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33193692|PMID:33532864|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
12073192	NPHP1	nephrocystin 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 1 | ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis | ClinVar Annotator: match by term: nephronophthisis 1	PMID:10620543|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:23559409|PMID:24033266|PMID:24746959|PMID:25525159|PMID:25741868|PMID:27004562|PMID:27806791|PMID:28492532|PMID:30108342|PMID:30773290|PMID:31523374|PMID:31822006|PMID:32483926|PMID:33532864|PMID:9326933|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073192	NPHP1	nephrocystin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30773290|PMID:8852662|PMID:9326933|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25326637|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27491411|PMID:27806791|PMID:28492532|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:11168925|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17409309|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:23661369|PMID:23757202|PMID:24033266|PMID:24154662|PMID:24746959|PMID:25268133|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26499951|PMID:26673778|PMID:26920127|PMID:27004562|PMID:27491411|PMID:27806791|PMID:28002029|PMID:28492532|PMID:28559085|PMID:28624958|PMID:29974258|PMID:30108342|PMID:30773290|PMID:31345219|PMID:31523374|PMID:31822006|PMID:32173348|PMID:32483926|PMID:33193692|PMID:36090483|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16155189|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9326933|PMID:9536098|PMID:9856524
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:33046855|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31345219|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10620543|PMID:10712196|PMID:10839884|PMID:15138899|PMID:16199547|PMID:16762963|PMID:17576681|PMID:17855640|PMID:18076122|PMID:19118152|PMID:19755384|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23559409|PMID:24746959|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26477546|PMID:26673778|PMID:27004562|PMID:27806791|PMID:28002029|PMID:28492532|PMID:30108342|PMID:31523374|PMID:32173348|PMID:32483926|PMID:35858853|PMID:36090483|PMID:37230223|PMID:8852662|PMID:9536098
12073192	NPHP1	nephrocystin 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:1324	lung cancer		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1317734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:10839884|PMID:15138899|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:1826	epilepsy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858|RGD:732435|RGD:1319511|RGD:1603660	D	RGD:9068941	20200609	RGD			PMID:24746959|REF_RGD_ID:11352646
12073192	NPHP1	nephrocystin 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:9068941	20200609	RGD			PMID:24746959|REF_RGD_ID:11352646
12073192	NPHP1	nephrocystin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:557	kidney disease		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:630	genetic disease		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10620543|PMID:10839884|PMID:15138899|PMID:20434703|PMID:21258817|PMID:21658830|PMID:24746959|PMID:25126106|PMID:25401970|PMID:25741868|PMID:26037636|PMID:26092869|PMID:26359340|PMID:26477546|PMID:27491411|PMID:27788217|PMID:28002029|PMID:28041643|PMID:2825423|PMID:28347285|PMID:28492532|PMID:28509138|PMID:29555955|PMID:29654215|PMID:29974258|PMID:30847201|PMID:31402777|PMID:32306954|PMID:33083013|PMID:33306870|PMID:33512896|PMID:33597717|PMID:34013113|PMID:34059960|PMID:34153329|PMID:34246230|PMID:34295353|PMID:35140360|PMID:35368817|PMID:37203120|PMID:8852662
12073192	NPHP1	nephrocystin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073192	NPHP1	nephrocystin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317734	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:16199547|PMID:23559409|PMID:25741868|PMID:28492532
12073192	NPHP1	nephrocystin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317734	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:12888825|REF_RGD_ID:2298909
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:1824	status epilepticus		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:14614901|REF_RGD_ID:1625688
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:1936	atherosclerosis		ISO	RGD:730833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330073
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:12888825|REF_RGD_ID:2298909
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:409	liver disease		ISO	RGD:730833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:4947	cholangiocarcinoma	severity	ISO	RGD:730833	D	RGD:9068941	20220128	RGD		protein:decreased expression:bile duct (human)	PMID:26485275|REF_RGD_ID:11250478
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:uterine cervix	PMID:16878360|REF_RGD_ID:2298904
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16831601
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18097573|REF_RGD_ID:2298901
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:621087	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9000784	Fibrosis		ISO	RGD:621087	D	RGD:9068941	20200609	RGD			PMID:16012948|REF_RGD_ID:1625686
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell	PMID:16507131|REF_RGD_ID:1625684
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		associated with Brain Ischemia;mRNA, protein:increased expression:cerebral cortex	PMID:12437578|REF_RGD_ID:632385
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9004484	Sepsis		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:11312157|REF_RGD_ID:634751
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9004484	Sepsis		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		protein:increased expression:gastrocnemius	PMID:12644450|REF_RGD_ID:2298924
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730834	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18381452|REF_RGD_ID:2298899
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:18356406|REF_RGD_ID:2298911
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9005643	Experimental Diabetes Mellitus	susceptibility	ISO	RGD:730834	D	RGD:9068941	20200609	RGD			PMID:17562326|REF_RGD_ID:2313787
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:621087	D	RGD:9068941	20200609	RGD			PMID:12217886|REF_RGD_ID:625688
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:730834	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, skeletal muscle	PMID:15169905|REF_RGD_ID:2298923
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:730834	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:15240880|REF_RGD_ID:1625677
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:730833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730834	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:15240880|REF_RGD_ID:1625677
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:730834	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:17295835|REF_RGD_ID:2313789
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:730833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16804899
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9007730	Burns		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hepatocyte	PMID:12392283|REF_RGD_ID:730264
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:17405912|REF_RGD_ID:1625683
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:15331532|REF_RGD_ID:2313790
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730834	D	RGD:9068941	20200609	RGD			PMID:17513737|REF_RGD_ID:2313788
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:621087	D	RGD:9068941	20200609	RGD			PMID:29110587|REF_RGD_ID:13506806
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:730834	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:15240880|REF_RGD_ID:1625677
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9970	obesity		ISO	RGD:621087	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:white fat	PMID:11027633|REF_RGD_ID:2298920
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9970	obesity		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:altered expression:skeletal muscle,  subcutaneous adipose tissue	PMID:15331532|REF_RGD_ID:2313790
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9970	obesity		ISO	RGD:730833	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:16920065|REF_RGD_ID:1625676
12073221	SOCS3	suppressor of cytokine signaling 3	gene	DOID:9970	obesity		ISO	RGD:730833	D	RGD:9068941	20240502	RGD		DNA:SNP:utr (rs4969170) (human)	PMID:23900445|REF_RGD_ID:405650675
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073224	GABPB2	GA binding protein transcription factor subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733793	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:10534	stomach cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:1115	sarcoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:1227	neutropenia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:1324	lung cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:2355	anemia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:3275	thymoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:4362	cervical cancer		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:5041	esophageal cancer		ISO	RGD:733793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733793	D	RGD:9068941	20200609	RGD		DNA:translocation:cds: (human)	PMID:10477737|REF_RGD_ID:9693698
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:614	lymphopenia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:74	hematopoietic system disease		ISO	RGD:733793	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:39788167
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:733793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12073247	NUP98	nucleoporin 98 and 96 precursor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733793	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:21441929
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:0051040	primary autosomal recessive microcephaly 29		ISO	RGD:68505	D	RGD:7240710	20221012	OMIM			
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:8398	osteoarthritis		ISO	RGD:68505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073295	PDCD6IP	programmed cell death 6 interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532|PMID:29669943|PMID:35052424|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0060249	scoliosis		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:25860818|PMID:28492532|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0080473	developmental delay and seizures with or without movement abnormalities		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay and seizures with or without movement abnormalities	PMID:25741868
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:23141294|PMID:25741868
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q		ISO	RGD:1317663	D	RGD:7240710	20180130	OMIM			
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0110170	Charcot-Marie-Tooth disease axonal type 2Q		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Q | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2Q	PMID:23141293|PMID:23141294|PMID:25326637|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:28902413|PMID:29669943|PMID:35052424
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0111453	2-aminoadipic 2-oxoadipic aciduria		ISO	RGD:1317663	D	RGD:7240710	20180130	OMIM			
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:0111453	2-aminoadipic 2-oxoadipic aciduria		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 2-aminoadipic 2-oxoadipic aciduria | ClinVar Annotator: match by term: ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA | ClinVar Annotator: match by term: DHTKD1-related condition	PMID:16199547|PMID:17576681|PMID:23141293|PMID:23141294|PMID:25326637|PMID:25640679|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28454995|PMID:28492532|PMID:28902413|PMID:29653220|PMID:29669943|PMID:29752936|PMID:29858556|PMID:30842647|PMID:30896807|PMID:32005694|PMID:32303640|PMID:32695416|PMID:32768327|PMID:32860008|PMID:33369814|PMID:34169998|PMID:34946966|PMID:35052424|PMID:37091313|PMID:9536098
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1317663	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532|PMID:29127259
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23141293|PMID:23141294|PMID:25741868|PMID:25860818|PMID:26141459|PMID:28492532|PMID:28902413|PMID:35052424|PMID:35897808|PMID:37091313|PMID:8069629|PMID:9536098
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:767	muscular atrophy		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:28492532|PMID:29669943|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:870	neuropathy		ISO	RGD:1317663	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532|PMID:35052424|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:1317663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HMSN IIA2	PMID:23141294|PMID:25741868
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532|PMID:29669943|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:25860818|PMID:28492532|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:28492532|PMID:29669943|PMID:37091313
12073319	DHTKD1	dehydrogenase E1 and transketolase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:0080600	COVID-19		ISO	RGD:1344791	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:4362	cervical cancer		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12073341	TMEM45A	transmembrane protein 45A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs402710(human)	PMID:28025427|REF_RGD_ID:150530487
12073366	CLPTM1L	CLPTM1 like	gene	DOID:0050921	pharynx squamous cell carcinoma	sexual_dimorphism	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		in males;DNA:SNP: :rs401681(human)	PMID:31429604|REF_RGD_ID:150530637
12073366	CLPTM1L	CLPTM1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12073366	CLPTM1L	CLPTM1 like	gene	DOID:10283	prostate cancer		ISO	RGD:1605932	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292274
12073366	CLPTM1L	CLPTM1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD			PMID:27062701|REF_RGD_ID:150537097
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	sexual_dimorphism	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		in males;DNA:SNP: :rs370348(human)	PMID:21771723|REF_RGD_ID:150530643
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs:: rs402710,rs451360 (human)	PMID:25526467|REF_RGD_ID:150530494
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs::multiple (human)	PMID:26852039|REF_RGD_ID:150530484
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:25422207|REF_RGD_ID:150530631
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	PMID:21622582|REF_RGD_ID:150530642
12073366	CLPTM1L	CLPTM1 like	gene	DOID:1909	melanoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:esophagus	PMID:25480402|REF_RGD_ID:150530497
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:24386361|REF_RGD_ID:150537098
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs401681(human)	PMID:25007268|REF_RGD_ID:150530488
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs451360(human)	PMID:26716642|REF_RGD_ID:11572962
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:lung	PMID:24366883|REF_RGD_ID:150530483
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP::rs401681(human)	PMID:24861918|REF_RGD_ID:150530499
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs31490(human)	PMID:23908149|REF_RGD_ID:150530498
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:24386361|REF_RGD_ID:150537098
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNPs: :rs4975616,rs401681(human)	PMID:24679952|REF_RGD_ID:150530644
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs:: rs401681,rs4975616(human)	PMID:24175795|REF_RGD_ID:150530500
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3908	lung non-small cell carcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs31490(human)	PMID:27982019|REF_RGD_ID:150530632
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22675468
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		mRNA:increased expression:lung	PMID:24366883|REF_RGD_ID:150530483
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD			PMID:24366883|REF_RGD_ID:150530483
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	no_association	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP::rs401681(human)	PMID:24861918|REF_RGD_ID:150530499
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs31490(human)	PMID:23908149|REF_RGD_ID:150530498
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP:: rs4975616(human)	PMID:19955392|REF_RGD_ID:150530502
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:23738012|PMID:24386361|REF_RGD_ID:150530485|REF_RGD_ID:150537098
12073366	CLPTM1L	CLPTM1 like	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP::rs77518573(human)	PMID:31935503|REF_RGD_ID:150530635
12073366	CLPTM1L	CLPTM1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:4948	gallbladder carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP, haplotype: :rs401681(human)	PMID:29450669|REF_RGD_ID:150530629
12073366	CLPTM1L	CLPTM1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP: :rs401681(human)	PMID:29042796|REF_RGD_ID:150537100
12073366	CLPTM1L	CLPTM1 like	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNPs::rs401681(human)	PMID:25339005|REF_RGD_ID:150530496
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		associated with esophagus squamous cell carcinoma; mRNA:increased expression:esophagus	PMID:25480402|REF_RGD_ID:150530497
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19151717
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978787|PMID:19151717|PMID:23433592|PMID:24366883
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1605932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749845
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		protein:increased expression:nasopharynx	PMID:26621837|REF_RGD_ID:11564613
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211217	RGD		DNA:SNP: :rs401681(human)	PMID:26621837|REF_RGD_ID:11564613
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:26545403|REF_RGD_ID:11556976
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		DNA:SNP:intron:rs31489(human)	PMID:31270100|REF_RGD_ID:150537099
12073366	CLPTM1L	CLPTM1 like	gene	DOID:9675	pulmonary emphysema	severity	ISO	RGD:1605932	D	RGD:9068941	20211224	RGD		associated with smoking; DNA:SNP:intron:rs31489(human)	PMID:21622582|REF_RGD_ID:150530642
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:0080061	autosomal recessive spinocerebellar ataxia 2		ISO	RGD:1346872	D	RGD:7240710	20180130	OMIM			
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:0080061	autosomal recessive spinocerebellar ataxia 2		ISO	RGD:1346872	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 2 | ClinVar Annotator: match by term: PMPCA-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	PMID:25741868|PMID:26657514|PMID:28492532|PMID:32369273|PMID:33272776|PMID:39003674
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:1432	blindness		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normal pressure hydrocephalus	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:2340	craniosynostosis		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1346872	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1346872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:5723	optic atrophy		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26657514|PMID:28492532
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:6364	migraine		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9000495	Tremor		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9001722	Dysarthria		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9003133	Hypertelorism		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9003671	Hypoventilation		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoventilation	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9006329	Paralytic Ectropion		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paralytic ectropion	PMID:25741868|PMID:28492532
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9008675	Dyskinesias		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:26657514
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073387	PMPCA	peptidase, mitochondrial processing subunit alpha	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:0070452	xanthinuria type I		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary xanthinuria type 1	PMID:25741868
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:0080493	ovarian dysgenesis 1		ISO	RGD:735571	D	RGD:7240710	20180130	OMIM			
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:0080493	ovarian dysgenesis 1		ISO	RGD:735571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FSHR-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 1 | ClinVar Annotator: match by term: Ovarian dysgenesis 1	PMID:10022448|PMID:15249125|PMID:17826728|PMID:18159088|PMID:22401810|PMID:23419799|PMID:25741868|PMID:28492532|PMID:30691934|PMID:31830376|PMID:7553856|PMID:9769327
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:735571	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:735571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22885925
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:13938	amenorrhea		ISO	RGD:735571	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:735571	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:10022448|PMID:22414334|PMID:28492532
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis, XX type	PMID:28492532
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:1909	melanoma		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:2999	granulosa cell tumor		ISO	RGD:735571	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:5425	ovarian hyperstimulation syndrome		ISO	RGD:735571	D	RGD:7240710	20180130	OMIM			
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:5425	ovarian hyperstimulation syndrome		ISO	RGD:735571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN HYPERSTIMULATION SYNDROME | ClinVar Annotator: match by term: Ovarian hyperstimulation syndrome	PMID:12930927|PMID:16278261|PMID:17826728|PMID:18159088|PMID:22401810|PMID:25741868|PMID:28492532|PMID:9769327
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735571	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:630	genetic disease		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735571	D	RGD:9068941	20200609	RGD		sex cord-stromal tumors;DNA:point mutation:F591S	PMID:9100567|REF_RGD_ID:1601234
12073407	FSHR	follicle stimulating hormone receptor	gene	DOID:9003326	Perrault Syndrome 1		ISO	RGD:735571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis XX type deafness	PMID:28492532
12073427	POLE4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073427	POLE4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073427	POLE4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073427	POLE4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073427	POLE4	DNA polymerase epsilon 4, accessory subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073435	PRKD2	protein kinase D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073435	PRKD2	protein kinase D2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1342931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12073435	PRKD2	protein kinase D2	gene	DOID:1909	melanoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073435	PRKD2	protein kinase D2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073435	PRKD2	protein kinase D2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12073435	PRKD2	protein kinase D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073435	PRKD2	protein kinase D2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073435	PRKD2	protein kinase D2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1342931	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
12073435	PRKD2	protein kinase D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073435	PRKD2	protein kinase D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073435	PRKD2	protein kinase D2	gene	DOID:9256	colorectal cancer		ISO	RGD:1342931	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12073468	TRDMT1	tRNA aspartic acid methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073486	POLQ	DNA polymerase theta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:0080600	COVID-19		ISO	RGD:1320324	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12073486	POLQ	DNA polymerase theta	gene	DOID:10534	stomach cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073486	POLQ	DNA polymerase theta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073486	POLQ	DNA polymerase theta	gene	DOID:1115	sarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12073486	POLQ	DNA polymerase theta	gene	DOID:1324	lung cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073486	POLQ	DNA polymerase theta	gene	DOID:1612	breast cancer		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
12073486	POLQ	DNA polymerase theta	gene	DOID:1909	melanoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:3275	thymoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:3307	teratoma		ISO	RGD:1320324	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:4362	cervical cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12073486	POLQ	DNA polymerase theta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12073486	POLQ	DNA polymerase theta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:5041	esophageal cancer		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12073486	POLQ	DNA polymerase theta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073486	POLQ	DNA polymerase theta	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1320324	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition	PMID:25741868
12073486	POLQ	DNA polymerase theta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320324	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12073486	POLQ	DNA polymerase theta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073486	POLQ	DNA polymerase theta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073486	POLQ	DNA polymerase theta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073486	POLQ	DNA polymerase theta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073520	MELTF	melanotransferrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073520	MELTF	melanotransferrin	gene	DOID:1115	sarcoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073520	MELTF	melanotransferrin	gene	DOID:1324	lung cancer		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073520	MELTF	melanotransferrin	gene	DOID:1909	melanoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073520	MELTF	melanotransferrin	gene	DOID:3275	thymoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073520	MELTF	melanotransferrin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073520	MELTF	melanotransferrin	gene	DOID:4362	cervical cancer		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073520	MELTF	melanotransferrin	gene	DOID:5041	esophageal cancer		ISO	RGD:1317764	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073520	MELTF	melanotransferrin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073520	MELTF	melanotransferrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073520	MELTF	melanotransferrin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073520	MELTF	melanotransferrin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073520	MELTF	melanotransferrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073520	MELTF	melanotransferrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073520	MELTF	melanotransferrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1348910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse large B cell lymphoma	PMID:16492805|PMID:21156281|PMID:21156282|PMID:25741868|PMID:26769062|PMID:28492532|PMID:32619424|PMID:32932517
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0060260	ptosis		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0070071	autosomal dominant intellectual developmental disorder 41		ISO	RGD:1348910	D	RGD:7240710	20190315	OMIM			
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0070071	autosomal dominant intellectual developmental disorder 41		ISO	RGD:1348910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 41 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 41 | ClinVar Annotator: match by term: TBL1XR1-related condition | ClinVar Annotator: match by term: TBL1XR1-related disorder	PMID:16492805|PMID:21156281|PMID:21156282|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26769062|PMID:27221108|PMID:28492532|PMID:28588275|PMID:30365874|PMID:30544257|PMID:32619424|PMID:32932517|PMID:33527360
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISO	RGD:1348910	D	RGD:7240710	20190315	OMIM			
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:0081362	Pierpont syndrome		ISO	RGD:1348910	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PIERPONT SYNDROME | ClinVar Annotator: match by term: Pierpont syndrome | ClinVar Annotator: match by term: TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome	PMID:16492805|PMID:17576681|PMID:18414213|PMID:21156281|PMID:21156282|PMID:23160955|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:27129164|PMID:27824329|PMID:28492532|PMID:28574232|PMID:30577886|PMID:31394400|PMID:31618753|PMID:32619424|PMID:32932517|PMID:36703223|PMID:38378692|PMID:9536098
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:1143	exotropia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:11830	myopia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:12700	hyperprolactinemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperprolactinemia	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348910	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:1826	epilepsy		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:28492532
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:1909	melanoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:3275	thymoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:630	genetic disease		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16893456|PMID:25102098|PMID:25741868|PMID:26467025|PMID:26740553|PMID:26769062|PMID:28492532|PMID:35101336
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9000660	Choristoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:35101336
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348910	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:35101336
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dyskinesia	PMID:33527360
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:26769062
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073538	TBL1XR1	TBL1X/Y related 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:28492532
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073567	CAMSAP2	calmodulin regulated spectrin associated protein family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073595	ATP6V1G3	ATPase H+ transporting V1 subunit G3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312186	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073602	FLRT2	fibronectin leucine rich transmembrane protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12073602	FLRT2	fibronectin leucine rich transmembrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073602	FLRT2	fibronectin leucine rich transmembrane protein 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12073611	MSH2	mutS homolog 2	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:732745	D	RGD:7240710	20180130	OMIM			
12073611	MSH2	mutS homolog 2	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: MUIR-TORRE SYNDROME | ClinVar Annotator: match by term: Muir-Torre syndrome | ClinVar Annotator: match by term: Muir-Torré syndrome	PMID:10471663|PMID:10480359|PMID:10612836|PMID:11601928|PMID:11606497|PMID:11782355|PMID:12376507|PMID:12377806|PMID:12624141|PMID:14514376|PMID:14526391|PMID:14970868|PMID:15365995|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16395668|PMID:16995940|PMID:17101317|PMID:17594722|PMID:17720936|PMID:17894833|PMID:17973265|PMID:18383312|PMID:18561205|PMID:18781192|PMID:18951462|PMID:20223042|PMID:20459533|PMID:20937110|PMID:21239990|PMID:21598002|PMID:21642682|PMID:21671081|PMID:21837758|PMID:22290698|PMID:22480969|PMID:22949387|PMID:23047549|PMID:23229822|PMID:23729658|PMID:23760103|PMID:24362816|PMID:25110875|PMID:25186627|PMID:25194673|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26681312|PMID:26692440|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:2712738|PMID:27363726|PMID:27601186|PMID:27618451|PMID:27974047|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29442399|PMID:29641532|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30122538|PMID:30238922|PMID:30262796|PMID:30322717|PMID:30833958|PMID:31054147|PMID:31068090|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31569399|PMID:32658311|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33848333|PMID:34213665|PMID:34761457|PMID:35224146|PMID:35358259|PMID:35487642|PMID:35676339|PMID:36230473|PMID:36243179|PMID:36457512|PMID:36593122|PMID:36627197|PMID:36672847|PMID:9217825|PMID:9298827|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:732746	D	RGD:9068941	20210430	RGD			PMID:11604476|REF_RGD_ID:126790556
12073611	MSH2	mutS homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15849733|PMID:16199547|PMID:16395668|PMID:19669161|PMID:21520333|PMID:21642682|PMID:24362816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36113988
12073611	MSH2	mutS homolog 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ductal carcinoma in situ	PMID:25741868|PMID:26467025|PMID:28466842|PMID:28492532|PMID:28765196
12073611	MSH2	mutS homolog 2	gene	DOID:0060180	colitis		ISO	RGD:620786	D	RGD:9068941	20200609	RGD			PMID:23883737|REF_RGD_ID:10412318
12073611	MSH2	mutS homolog 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:7240710	20180130	OMIM			
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33471991|PMID:33630411|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31857677|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:22581703|PMID:22585170|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32809219|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31444830|PMID:31491536|PMID:31494577|PMID:31512090
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612836|PMID:10693791|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10978353|PMID:10995807|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11839723|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12694232|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17661183|PMID:17665423|PMID:17720936|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21837758|PMID:21868491|PMID:21879275
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22102614|PMID:22120844|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23573243|PMID:23604856|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24933000|PMID:24953332|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29458332|PMID:29489754|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31660093|PMID:31692600|PMID:31742824|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35676339|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:27468915|PMID:27487738|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25741905|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37262986|PMID:37314251|PMID:580563|PMID:6096739|PMID:625353|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16751773|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18841495
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:18931482|PMID:18951462|PMID:18951465|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20672385|PMID:20682701|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21520333|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27007491
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28376765|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:580563|PMID:6096739|PMID:625353|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: LYNCH SYNDROME 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10080150|PMID:10190329|PMID:10375096|PMID:10404063|PMID:10422993|PMID:10448273|PMID:10471663|PMID:10480359|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10978353|PMID:10995807|PMID:11074494|PMID:11112663|PMID:11291077|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11772966|PMID:11782355|PMID:12115503|PMID:12124176|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12624141|PMID:12655562|PMID:12907901|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14635101|PMID:14692024|PMID:14729822|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15309712|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15475941|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15951966|PMID:15996210|PMID:16034045|PMID:16086322|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16751773|PMID:16807412|PMID:16884359|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17101317|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17720936|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18383312|PMID:18389388|PMID:18559331|PMID:18561205|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18822302|PMID:18951462|PMID:19267393|PMID:19419416|PMID:19459153|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19723918|PMID:19728162|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20176959|PMID:20223042|PMID:20233461|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21387278|PMID:21520333|PMID:21598002|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21837758|PMID:21879275|PMID:21926548|PMID:21946537|PMID:22039344|PMID:22102614|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22290698|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22703879|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23354634|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24082139|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24767862|PMID:24903654|PMID:24933100|PMID:25025451|PMID:25081409|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25648859|PMID:25673086|PMID:25741868|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26248088|PMID:26333163|PMID:26344056|PMID:26446363|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27064304|PMID:2712738|PMID:27153395|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29212164|PMID:29333623
12073611	MSH2	mutS homolog 2	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1 | ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: LYNCH SYNDROME 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:29345684|PMID:29348823|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30077346|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30702970|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31822864|PMID:31830689|PMID:31843900|PMID:32068069|PMID:32547938|PMID:32587781|PMID:32658311|PMID:32720330|PMID:32794040|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33654310|PMID:33848333|PMID:33858029|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35224146|PMID:35358259|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37370996|PMID:37894291|PMID:37914149|PMID:37937776|PMID:38355628|PMID:38509102|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8509102|PMID:8521394|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8808596|PMID:8872463|PMID:9002677|PMID:9048925|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9298827|PMID:9536098|PMID:9718327|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Lynch syndrome II	PMID:25741868|PMID:28492532|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MMR DEFICIENCY	PMID:16929514|PMID:17011982|PMID:18383312|PMID:22290698|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29731845|PMID:30238922|PMID:30262796|PMID:31237724|PMID:31391288|PMID:32832836|PMID:33357406|PMID:33471991|PMID:33606809|PMID:33848333|PMID:34761457|PMID:36243179|PMID:36672847
12073611	MSH2	mutS homolog 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:16217293|REF_RGD_ID:2293513
12073611	MSH2	mutS homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:12624141|PMID:16451135|PMID:17453009|PMID:20587412|PMID:21681552|PMID:24240112|PMID:24344984|PMID:25741868|PMID:26446363|PMID:26467025|PMID:26689913|PMID:26824983|PMID:27363726|PMID:28050010|PMID:28127413|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28874130|PMID:29752822|PMID:31207149|PMID:32068069|PMID:33015532|PMID:36522531|PMID:36988593
12073611	MSH2	mutS homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12073611	MSH2	mutS homolog 2	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18254781|REF_RGD_ID:2293503
12073611	MSH2	mutS homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073611	MSH2	mutS homolog 2	gene	DOID:11830	myopia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
12073611	MSH2	mutS homolog 2	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:732746	D	RGD:9068941	20200609	RGD			PMID:12554681|REF_RGD_ID:10412317
12073611	MSH2	mutS homolog 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
12073611	MSH2	mutS homolog 2	gene	DOID:1324	lung cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073611	MSH2	mutS homolog 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:SNP: :rs2303425 (human)	PMID:25252909|REF_RGD_ID:126848798
12073611	MSH2	mutS homolog 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17531815|PMID:23391514|PMID:25741868|PMID:28492532|PMID:32980694|PMID:33357406|PMID:35101336
12073611	MSH2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10023327|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10404063|PMID:10413423|PMID:10446963|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10793088|PMID:10978353|PMID:10995807|PMID:11151427|PMID:11291077|PMID:11691782|PMID:11772966|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920650|PMID:11975096|PMID:12112654|PMID:12115348|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12352241|PMID:12362047|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14574162|PMID:14574163|PMID:14970868|PMID:15075785|PMID:15222003|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15516845|PMID:15520224|PMID:15527911|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17192056|PMID:17312306|PMID:17350822|PMID:17414604|PMID:17440950|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18270343|PMID:18325052|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18772310|PMID:18822302|PMID:18951462|PMID:18951465|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20850175|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21387278|PMID:21419771|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21788563|PMID:22039344|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23454724|PMID:23526924|PMID:23573243|PMID:23612316|PMID:23741719|PMID:23760103|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24396821|PMID:24549055|PMID:24556621|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24933000|PMID:24933100|PMID:25025451|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25430799|PMID:25569433|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26096739|PMID:26177554|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26824983|PMID:26898890|PMID:26900293|PMID:26951660|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27273229|PMID:27328445|PMID:27601186|PMID:27696107|PMID:27720647|PMID:27978560|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28422960|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28779002|PMID:28828701|PMID:28874130|PMID:28944238|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29345684|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29967336|PMID:30019097|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31569399|PMID:31615790|PMID:31857677|PMID:32019277|PMID:32068069|PMID:32075053
12073611	MSH2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:32090079|PMID:32283892|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:33471991|PMID:33746161|PMID:34347074|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8574961|PMID:8592341|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:29345684|PMID:29506128|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29887214|PMID:29961768|PMID:29967336|PMID:30019097|PMID:30093976|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30376427|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30875412|PMID:30877237|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31265121|PMID:31332305|PMID:31391288|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31569399|PMID:31615790|PMID:31857677|PMID:31948886|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32283892|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32658311|PMID:32660107|PMID:32885271|PMID:32957588|PMID:33015532|PMID:33357406|PMID:333574060|PMID:33414168|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33726816|PMID:33746161|PMID:33977078|PMID:34178123|PMID:34326862|PMID:34347074|PMID:34680242|PMID:35676339|PMID:35734982|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36421850|PMID:36522531|PMID:36988593|PMID:37088804|PMID:6096739|PMID:625353|PMID:7726159|PMID:7874129|PMID:8062247|PMID:8261515|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8640829|PMID:8872463|PMID:8895729|PMID:9002677|PMID:9125109|PMID:9222765|PMID:9288790|PMID:9311737|PMID:9536098|PMID:9621522|PMID:9718327|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:1520	colon carcinoma		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10523644|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10995807|PMID:11291077|PMID:11772966|PMID:12124176|PMID:12362047|PMID:12436451|PMID:12624141|PMID:14574162|PMID:15680406|PMID:15713769|PMID:15849733|PMID:16034045|PMID:16181381|PMID:16199547|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17473388|PMID:17505997|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18383312|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19723918|PMID:19931546|PMID:20388775|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21520333|PMID:21642682|PMID:21681552|PMID:22102614|PMID:22290698|PMID:22371642|PMID:22949387|PMID:23454724|PMID:23612316|PMID:23690608|PMID:23741719|PMID:23760103|PMID:24240112|PMID:24344984|PMID:24362816|PMID:24689082|PMID:25741868|PMID:26053027|PMID:26446363|PMID:26467025|PMID:26689913|PMID:26824983|PMID:26951660|PMID:27363726|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28449805|PMID:28492532|PMID:28514183|PMID:28577310|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28828701|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29684080|PMID:29752822|PMID:29887214|PMID:30267214|PMID:30521064|PMID:30608896|PMID:30998989|PMID:31118792|PMID:31207149|PMID:32068069|PMID:32547938|PMID:32658311|PMID:32720330|PMID:32885271|PMID:33015532|PMID:33357406|PMID:333574060|PMID:33422027|PMID:33848333|PMID:33858029|PMID:34178123|PMID:34326862|PMID:35430768|PMID:36522531|PMID:36988593|PMID:38355628|PMID:7726159|PMID:7874129|PMID:8574961|PMID:8592341|PMID:8872463|PMID:9002677|PMID:9125109
12073611	MSH2	mutS homolog 2	gene	DOID:1596	depressive disorder		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32885271|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32566746|PMID:32658311|PMID:32986223|PMID:33471991|PMID:8613431|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21681552|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22585170|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31569399|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34755017|PMID:8613431|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25117502|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34755017|PMID:8613431|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34755017|PMID:35884469|PMID:36113988|PMID:8613431|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36113988|PMID:36451132|PMID:36672847|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28422960|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36011265|PMID:36113988|PMID:36243179|PMID:36451132|PMID:36672847|PMID:36845387|PMID:36896836|PMID:38509102|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10080150|PMID:10422993|PMID:10777691|PMID:10874307|PMID:10978353|PMID:11524701|PMID:11606497|PMID:11782355|PMID:11879922|PMID:12362047|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14514376|PMID:14594944|PMID:15046089|PMID:15365995|PMID:15520370|PMID:15613555|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15943554|PMID:15996210|PMID:16199547|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16807412|PMID:16885385|PMID:16995940|PMID:17011982|PMID:17101317|PMID:17186090|PMID:17192056|PMID:17555131|PMID:18033691|PMID:18383312|PMID:18406877|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18781192|PMID:18803051|PMID:18951462|PMID:18990764|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20176959|PMID:20388775|PMID:20587412|PMID:21120944|PMID:21155023|PMID:21311894|PMID:21642682|PMID:21837758|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22703879|PMID:22949387|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23733757|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24055113|PMID:24078570|PMID:24082139|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25117502|PMID:25117503|PMID:25420488|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25741868|PMID:25980754|PMID:26116798|PMID:26202870|PMID:26247049|PMID:26270727|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26528695|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:27153395|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:28125075|PMID:28195393|PMID:28376765|PMID:28422960|PMID:28492532|PMID:28494185|PMID:28528518|PMID:28580595|PMID:28706299|PMID:28765196|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29625052|PMID:29684080|PMID:29706558|PMID:29731845|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30374176|PMID:30521064|PMID:30630526|PMID:30723297|PMID:30798936|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31569399|PMID:31660093|PMID:32019277|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32658311|PMID:32741062|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32926152|PMID:32980694|PMID:32986223|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33580181|PMID:33848333|PMID:34117267|PMID:34250417|PMID:34326862|PMID:34426522|PMID:34755017|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36011265|PMID:36113988|PMID:36243179|PMID:36451132|PMID:36672847|PMID:36845387|PMID:36896836|PMID:38509102|PMID:8613431|PMID:8700523|PMID:9259192|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10422993|PMID:12624141|PMID:18383312|PMID:18561205|PMID:19690142|PMID:21642682|PMID:22703879|PMID:22949387|PMID:24082139|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26951660|PMID:26976419|PMID:27363726|PMID:27600092|PMID:27720647|PMID:27978560|PMID:28492532|PMID:28765196|PMID:30877237|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31970404|PMID:32443704|PMID:32652087|PMID:32658311|PMID:32849802|PMID:32885271|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33558524|PMID:33848333|PMID:33980423|PMID:34250417|PMID:34326862|PMID:38874686|PMID:8613431
12073611	MSH2	mutS homolog 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.G322D	PMID:16252083|REF_RGD_ID:2293512
12073611	MSH2	mutS homolog 2	gene	DOID:1673	pneumothorax		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:1826	epilepsy		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32885271|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:11208710|PMID:11524701|PMID:11601928|PMID:11854906|PMID:12414824|PMID:12547705|PMID:12658575|PMID:15713769|PMID:15849733|PMID:16116158|PMID:16237223|PMID:16616355|PMID:16807412|PMID:17229076|PMID:17312306|PMID:18270343|PMID:18566915|PMID:19723918|PMID:20215533|PMID:20233461|PMID:20587412|PMID:21598002|PMID:21879275|PMID:23047549|PMID:24033266|PMID:24344984|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27013479|PMID:27601186|PMID:28176205|PMID:28492532|PMID:28874130|PMID:28944238|PMID:30521064|PMID:30998989|PMID:31615790|PMID:31939059|PMID:34897210|PMID:9311737|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:219	colon cancer		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:12362047|PMID:15849733|PMID:16451135|PMID:16636019|PMID:17576681|PMID:20388775|PMID:21642682|PMID:24362816|PMID:25081409|PMID:25186627|PMID:25525159|PMID:25741868|PMID:26053027|PMID:26467025|PMID:26845104|PMID:27363726|PMID:27601186|PMID:27978560|PMID:28492532|PMID:28767289|PMID:30262796|PMID:32720330|PMID:32849802|PMID:33259954|PMID:33357406|PMID:33471991|PMID:33848333|PMID:36243179|PMID:7726159|PMID:9536098
12073611	MSH2	mutS homolog 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:28411881|REF_RGD_ID:126790577
12073611	MSH2	mutS homolog 2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, mRNA:loss of heterogeneity, increased expression: :colon	PMID:29715107|REF_RGD_ID:126790554
12073611	MSH2	mutS homolog 2	gene	DOID:219	colon cancer	no_association	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA:SNP:intron:IVS10+12G>A (human)	PMID:29715107|REF_RGD_ID:126790554
12073611	MSH2	mutS homolog 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073611	MSH2	mutS homolog 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:12376507|PMID:14514376|PMID:15046089|PMID:15613555|PMID:16425354|PMID:18383312|PMID:18726168|PMID:19419416|PMID:22006311|PMID:22949387|PMID:23047549|PMID:23760103|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26824983|PMID:26845104|PMID:26951660|PMID:27974047|PMID:28376765|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28706299|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29684080|PMID:30122538|PMID:30267214|PMID:30374176|PMID:30630526|PMID:30833958|PMID:30982232|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31307542|PMID:31386297|PMID:32019277|PMID:32255556|PMID:32547938|PMID:32566746|PMID:32832836|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34755017
12073611	MSH2	mutS homolog 2	gene	DOID:2394	ovarian cancer		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:12115503|PMID:12376507|PMID:15849733|PMID:18257912|PMID:22949387|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:27363726|PMID:27974047|PMID:28492532|PMID:28580595|PMID:29641532|PMID:29684080|PMID:30122538|PMID:30833958|PMID:31054147|PMID:31235699|PMID:31248605|PMID:31386297|PMID:33309985|PMID:33357406|PMID:33848333|PMID:36243179
12073611	MSH2	mutS homolog 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		associated with Lynch syndrome	PMID:22883484|REF_RGD_ID:126790557
12073611	MSH2	mutS homolog 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10612827|PMID:12362047|PMID:15342696|PMID:15849733|PMID:16451135|PMID:17576681|PMID:21239990|PMID:21926548|PMID:24278394|PMID:24362816|PMID:25081409|PMID:25117503|PMID:25420488|PMID:25525159|PMID:25741868|PMID:27601186|PMID:27606285|PMID:28492532|PMID:29212164|PMID:29967423|PMID:32849802|PMID:32885271|PMID:33259954|PMID:33357406|PMID:9536098
12073611	MSH2	mutS homolog 2	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		mRNA:decreased expression:larynx	PMID:23787767|REF_RGD_ID:126848783
12073611	MSH2	mutS homolog 2	gene	DOID:3068	glioblastoma		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glioblastoma	PMID:25741868
12073611	MSH2	mutS homolog 2	gene	DOID:3070	high grade glioma		ISO	RGD:732745	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ependymoma	PMID:11726306|PMID:15849733|PMID:17101317|PMID:25741868|PMID:28492532|PMID:28785832|PMID:33357406|PMID:34359559
12073611	MSH2	mutS homolog 2	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:25503122|REF_RGD_ID:126848779
12073611	MSH2	mutS homolog 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:12660027|PMID:15849733|PMID:17312306|PMID:20587412|PMID:21642682|PMID:22208277|PMID:24344984|PMID:24362816|PMID:25430799|PMID:25741868|PMID:26467025|PMID:27064304|PMID:27363726|PMID:27601186|PMID:28152038|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28765196|PMID:29345684|PMID:29684080|PMID:30918532|PMID:31054147|PMID:31844177|PMID:32453797|PMID:32540221|PMID:32547938|PMID:32658311|PMID:33357406|PMID:33471991|PMID:9036882
12073611	MSH2	mutS homolog 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:10769643|REF_RGD_ID:2293524
12073611	MSH2	mutS homolog 2	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:17394628|REF_RGD_ID:2293505
12073611	MSH2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:esophagus	PMID:24366688|REF_RGD_ID:126790573
12073611	MSH2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:promoter, esophagus	PMID:22265839|REF_RGD_ID:126790560
12073611	MSH2	mutS homolog 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:promoter, esophagus	PMID:21674174|REF_RGD_ID:126790574
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11854906|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33046448|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33746161|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34837403|PMID:34906448|PMID:36073783|PMID:3616036|PMID:6096739|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32844218
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:155342696|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31491536
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31444830
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32923906|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35358259|PMID:35370679|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36243179|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36550560|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10630344|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25741905|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36672847|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15689448|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:21943391|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25073507|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29506494|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26833332|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16372347|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:1|PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10533476|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11854906|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12549480|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14994245|PMID:15046089|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16372347|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16423994|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17229076|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18269114|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19098912|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19177550|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20864635|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21227399|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309036|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22243433|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23801599|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24142340|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24293293|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25381466|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27144940|PMID:27150160|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27717089|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39256447|PMID:39301527|PMID:39455978|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21431882|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22854115|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24293293|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25795746|PMID:25801821|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26077460|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27150160|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29769598|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31114938|PMID:31118792|PMID:31159474|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31433521|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32637358|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33046448|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36425062|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39256447|PMID:39301527|PMID:39455978|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9217825|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:10023327|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15959913|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20068152|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21155023|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22995991|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25307252|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28643016|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32090079|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32489267|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33977078|PMID:34039291|PMID:34115236|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34567566|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38295319|PMID:38731914|PMID:38762859|PMID:39004446|PMID:39096151|PMID:39256447|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome	PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9536098|PMID:9593786|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10564582|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19173287
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20877318|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23537056|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28577310|PMID:28580595|PMID:28643016|PMID:28724667
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31664942|PMID:31690835|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31874108|PMID:31948886|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32283892|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32547938|PMID:32549215|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33647816|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33866195|PMID:33977078|PMID:34039291|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34567566|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36073783|PMID:36113988|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38136308|PMID:38295319|PMID:38308423|PMID:38731914|PMID:38762859|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:9506527|PMID:9536098|PMID:9593786|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10850409|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12203789|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15837969|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20872076|PMID:20877318|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23537056|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28724667|PMID:28761921|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30710526|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31690835|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31911633|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32283892|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32549215|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33647816|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33858029|PMID:33866195|PMID:33977078|PMID:34039291|PMID:34178123|PMID:34203177|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34445631|PMID:34567566|PMID:34570441|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36113988|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37538120|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38136308|PMID:38308423|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:9066723|PMID:9087566|PMID:9125109|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10850409|PMID:10874307|PMID:10874318|PMID:10970186|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11830542|PMID:11839723|PMID:11857745|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12173039|PMID:12200596|PMID:12203789|PMID:12324578|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12694232|PMID:12702580|PMID:12875840|PMID:12910497|PMID:12938096|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574006|PMID:14574010|PMID:14574162|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14645426|PMID:14668545|PMID:14692024|PMID:14729822|PMID:14871915|PMID:14970868|PMID:14994245|PMID:15063132|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235038|PMID:15289847|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15475941|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15824023|PMID:15837969|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15949572|PMID:15955785|PMID:15991314|PMID:15996210|PMID:16003840|PMID:16015629|PMID:16034045|PMID:16086322|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237223|PMID:16251890|PMID:16264161|PMID:16311127|PMID:16327991|PMID:16331552|PMID:16341550|PMID:16395668|PMID:16423994|PMID:16426447|PMID:16451135|PMID:16476474|PMID:16528605|PMID:16534870|PMID:16541406|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16941473|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17228328|PMID:17250661|PMID:17250665|PMID:17312306|PMID:17350822|PMID:17374836|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18181177|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18550572|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19173287|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20052760|PMID:20080788|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20591887|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20872076|PMID:20877318|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21145788|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21388660|PMID:21419771|PMID:21454657|PMID:21520333|PMID:21521882|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22371642|PMID:22406018|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22781090|PMID:22782591|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23537056|PMID:23588873|PMID:23595612|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24039744|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24114314|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24415873|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117500|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25759555|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26077460|PMID:26163658|PMID:26177554|PMID:26182300|PMID:26202870|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26333163|PMID:26344056|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26992266|PMID:27007491|PMID:27013479|PMID:27064304|PMID:27153395|PMID:27284491|PMID:27287813|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27720647|PMID:27873144|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28349240|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28724667|PMID:28761921|PMID:28765196
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28818680|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29164703|PMID:29212164|PMID:29238914|PMID:29333623|PMID:29345684|PMID:29348823|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29405992|PMID:29439113|PMID:29442399|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29731845|PMID:29752822|PMID:29758216|PMID:29758562|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30044143|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30651582|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31297992|PMID:31332305|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433521|PMID:31491536|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31690835|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31854063|PMID:31857677|PMID:31874108|PMID:31911633|PMID:32068069|PMID:32091409|PMID:32283892|PMID:32338768|PMID:32424176|PMID:32447321|PMID:32459922|PMID:32547938|PMID:32549215|PMID:3258778|PMID:32587781|PMID:32637358|PMID:32658311|PMID:32659967|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32794040|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33046448|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33208383|PMID:33259954|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33647816|PMID:33654310|PMID:33746161|PMID:33848333|PMID:33858029|PMID:33866195|PMID:33977078|PMID:34039291|PMID:34117267|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34445631|PMID:34567566|PMID:34667028|PMID:34680242|PMID:34687117|PMID:34712484|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:35101336|PMID:35171259|PMID:35224146|PMID:35260566|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35980532|PMID:36011265|PMID:36037994|PMID:36073783|PMID:36113988|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37314251|PMID:37370996|PMID:37538120|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38136308|PMID:38308423|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:39455978|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7557107|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8589682|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8931714|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9218993|PMID:9222765|PMID:9240418|PMID:9259192
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:9288790|PMID:9298827|PMID:9311737|PMID:9536098|PMID:9593786|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9748699|PMID:9774676|PMID:9777949|PMID:9843200
12073611	MSH2	mutS homolog 2	gene	DOID:3883	Lynch syndrome	onset	ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:10404063|REF_RGD_ID:11063948
12073611	MSH2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD			PMID:32211850|REF_RGD_ID:126848780
12073611	MSH2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20210430	RGD		protein:decreased expression:lung	PMID:16783774|REF_RGD_ID:126848791
12073611	MSH2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:732745	D	RGD:9068941	20210430	RGD		DNA:SNP: :rs6544991 (human)	PMID:28093084|REF_RGD_ID:126848786
12073611	MSH2	mutS homolog 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:732745	D	RGD:9068941	20210507	RGD			PMID:20145178|PMID:20458443|REF_RGD_ID:126848789|REF_RGD_ID:126848800
12073611	MSH2	mutS homolog 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:polymorphisms:introns:IVS10+12A>G, IVS12-6T>C (human)	PMID:16614121|REF_RGD_ID:11065547
12073611	MSH2	mutS homolog 2	gene	DOID:3910	lung adenocarcinoma	no_association	ISO	RGD:732745	D	RGD:9068941	20210507	RGD		DNA:polymorphisms:promoter, intron:-118T>C, IVS1+9G>C (human)	PMID:16614121|REF_RGD_ID:11065547
12073611	MSH2	mutS homolog 2	gene	DOID:3962	follicular thyroid carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Follicular thyroid carcinoma	PMID:25741868|PMID:26467025|PMID:28466842|PMID:28492532|PMID:28765196
12073611	MSH2	mutS homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: cervix cancer	PMID:26845104
12073611	MSH2	mutS homolog 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732745	D	RGD:9068941	20260521	RGD		protein:decreased expression:kidney	PMID:16426918|REF_RGD_ID:2293509
12073611	MSH2	mutS homolog 2	gene	DOID:4606	bile duct cancer		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Bile duct cancer	PMID:25741868|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073611	MSH2	mutS homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073611	MSH2	mutS homolog 2	gene	DOID:5374	pilomatrixoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10612827|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21520333|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9536098|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22039344|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:7726159|PMID:8613431|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10080150|PMID:10469597|PMID:10777691|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:12070261|PMID:12522549|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16327991|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:21056691|PMID:21120944|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25032700|PMID:25110875|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26845104|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29945567|PMID:30093976|PMID:30238922|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:34117267|PMID:34347074|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:9298827|PMID:9559627|PMID:9611074
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:35245693|PMID:35263119|PMID:35449176|PMID:35884469|PMID:3616036|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8993976|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12132870|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18951462|PMID:19117025|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20388775|PMID:20587412|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28537014|PMID:28580595|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30306255|PMID:30374176|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32926152|PMID:32957588|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34250417|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36243179|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15689448|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21943391|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33357406|PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28765196|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33580181|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29506494|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12419761|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15075785|PMID:15235030|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:36135357|PMID:3616036|PMID:36243179|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33471991|PMID:33580181
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10077621|PMID:10080150|PMID:10422993|PMID:10469597|PMID:10573010|PMID:10777691|PMID:10812001|PMID:10978353|PMID:11179758|PMID:11606497|PMID:11870161|PMID:11879922|PMID:11920650|PMID:12070261|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12658575|PMID:12792735|PMID:14499697|PMID:14512394|PMID:14514376|PMID:14574163|PMID:14594944|PMID:15046089|PMID:15254659|PMID:15340264|PMID:15350299|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15849733|PMID:15855432|PMID:15872200|PMID:15996210|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16636019|PMID:16736289|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17095871|PMID:17101317|PMID:17192056|PMID:17350822|PMID:17531815|PMID:17555131|PMID:17594722|PMID:17720936|PMID:18033691|PMID:18257912|PMID:18325052|PMID:18383312|PMID:18406877|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18636359|PMID:18726168|PMID:18772310|PMID:18781619|PMID:18822302|PMID:18951462|PMID:19117025|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19760518|PMID:20007843|PMID:20043121|PMID:20176959|PMID:20301390|PMID:20388775|PMID:20587412|PMID:20672385|PMID:20965939|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21309037|PMID:21528233|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21788563|PMID:21926548|PMID:22006311|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22581703|PMID:22703879|PMID:22739024|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23526924|PMID:23573243|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24078570|PMID:24326041|PMID:24362816|PMID:24396821|PMID:24506336|PMID:24710284|PMID:24728327|PMID:24735542|PMID:24763289|PMID:24933000|PMID:24953332|PMID:25032700|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25420488|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26092435|PMID:26096739|PMID:26182300|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26528695|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26845104|PMID:26878173|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26991699|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27328445|PMID:27363726|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27720647|PMID:27974047|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28202063|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28526081|PMID:28537014|PMID:28580595|PMID:28640387|PMID:28765196|PMID:28828701|PMID:28874130|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29945567|PMID:30089731|PMID:30093976|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30613976|PMID:30798936|PMID:30850667|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31111311|PMID:31159747|PMID:31237724|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31660093|PMID:31666926|PMID:31857677|PMID:31874108|PMID:31970404|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32255556|PMID:32295079|PMID:32443704|PMID:32459922|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32926152|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33326660
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33357406|PMID:33471991|PMID:33580181|PMID:33630411|PMID:33848333|PMID:33980423|PMID:34039291|PMID:34117267|PMID:34127009|PMID:34204722|PMID:34250417|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34482403|PMID:34570441|PMID:34837403|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35884469|PMID:3616036|PMID:36243179|PMID:36550560|PMID:36793599|PMID:36845387|PMID:37262986|PMID:6096739|PMID:6951660|PMID:7726159|PMID:8613431|PMID:8700523|PMID:8872463|PMID:8993976|PMID:9259192|PMID:9298827|PMID:9311737|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12132870|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14514376|PMID:15046089|PMID:15872200|PMID:16327991|PMID:16425354|PMID:16885385|PMID:17101317|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:18951462|PMID:19389263|PMID:20043121|PMID:21528233|PMID:22102614|PMID:22290698|PMID:22581703|PMID:23047549|PMID:23760103|PMID:24362816|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28514183|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31111311|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32547938|PMID:32658311|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:6951660|PMID:9298827
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14499697|PMID:14514376|PMID:15046089|PMID:15365995|PMID:15527911|PMID:15872200|PMID:16425354|PMID:16885385|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:19389263|PMID:20043121|PMID:21309037|PMID:21528233|PMID:22179786|PMID:22290698|PMID:22581703|PMID:22739024|PMID:22949387|PMID:23047549|PMID:23741719|PMID:23760103|PMID:24362816|PMID:24933000|PMID:25032700|PMID:25186627|PMID:25559809|PMID:25741868|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26951660|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29752822|PMID:30093976|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:34570441|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:8613431|PMID:9559627
12073611	MSH2	mutS homolog 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10024676|PMID:10777691|PMID:10812001|PMID:11920650|PMID:12792735|PMID:14514376|PMID:15046089|PMID:16425354|PMID:17350822|PMID:17720936|PMID:17894833|PMID:18383312|PMID:20043121|PMID:21528233|PMID:22290698|PMID:23760103|PMID:24362816|PMID:25186627|PMID:25741868|PMID:26332594|PMID:26333163|PMID:26380806|PMID:26467025|PMID:26845104|PMID:26991699|PMID:27363726|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28580595|PMID:28765196|PMID:29050249|PMID:29192238|PMID:29641532|PMID:29684080|PMID:29752822|PMID:30374176|PMID:30982232|PMID:31054147|PMID:31237724|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31666926|PMID:32019277|PMID:32068069|PMID:32255556|PMID:32547938|PMID:32658311|PMID:32980694|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33471991|PMID:33848333|PMID:34115236|PMID:34326862|PMID:35449176|PMID:35884469|PMID:36243179|PMID:38731914|PMID:8613431
12073611	MSH2	mutS homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10422993|PMID:19690142|PMID:22703879|PMID:24082139|PMID:25741868|PMID:26467025|PMID:26976419|PMID:27363726|PMID:27600092|PMID:27720647|PMID:28492532|PMID:32849802
12073611	MSH2	mutS homolog 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073611	MSH2	mutS homolog 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
12073611	MSH2	mutS homolog 2	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
12073611	MSH2	mutS homolog 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732745	D	RGD:9068941	20210507	RGD		associated with laryngeal squamous cell carcinoma	PMID:24459922|REF_RGD_ID:126848797
12073611	MSH2	mutS homolog 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
12073611	MSH2	mutS homolog 2	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms	disease_progression	ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:15492498|REF_RGD_ID:2293516
12073611	MSH2	mutS homolog 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:17390069|REF_RGD_ID:2293506
12073611	MSH2	mutS homolog 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
12073611	MSH2	mutS homolog 2	gene	DOID:9001733	Tinnitus		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:18383312|PMID:23047549|PMID:23729658|PMID:25479140|PMID:25741868|PMID:25964535|PMID:25987035|PMID:26467025|PMID:27363726|PMID:27449771|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35980532|PMID:38308423
12073611	MSH2	mutS homolog 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:25741868|PMID:28492532|PMID:33357406
12073611	MSH2	mutS homolog 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:17596548|REF_RGD_ID:2293504
12073611	MSH2	mutS homolog 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
12073611	MSH2	mutS homolog 2	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:16929514|PMID:17011982|PMID:18383312|PMID:22290698|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29731845|PMID:30238922|PMID:30262796|PMID:31237724|PMID:31391288|PMID:32832836|PMID:33357406|PMID:33471991|PMID:33606809|PMID:33848333|PMID:34761457|PMID:36243179|PMID:36672847
12073611	MSH2	mutS homolog 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073611	MSH2	mutS homolog 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell	PMID:15338238|REF_RGD_ID:2293517
12073611	MSH2	mutS homolog 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:25938944|PMID:27363726|PMID:28492532|PMID:29625052|PMID:32885271|PMID:33357406|PMID:33471991
12073611	MSH2	mutS homolog 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:15849733|PMID:21642682|PMID:24362816|PMID:25741868|PMID:28492532
12073611	MSH2	mutS homolog 2	gene	DOID:9005761	Mismatch Repair Cancer Syndrome 2		ISO	RGD:732745	D	RGD:7240710	20201202	OMIM			
12073611	MSH2	mutS homolog 2	gene	DOID:9005761	Mismatch Repair Cancer Syndrome 2		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 2 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 2	PMID:10190329|PMID:10471663|PMID:10480359|PMID:10612836|PMID:11601928|PMID:11606497|PMID:11782355|PMID:12377806|PMID:12624141|PMID:14514376|PMID:14526391|PMID:14970868|PMID:15365995|PMID:15849733|PMID:15872200|PMID:16216036|PMID:16372347|PMID:16395668|PMID:16995940|PMID:17101317|PMID:17594722|PMID:17720936|PMID:17894833|PMID:17973265|PMID:18383312|PMID:18561205|PMID:18781192|PMID:18951462|PMID:20223042|PMID:20459533|PMID:20937110|PMID:21239990|PMID:21598002|PMID:21642682|PMID:21671081|PMID:21837758|PMID:22290698|PMID:22480969|PMID:22949387|PMID:23760103|PMID:24362816|PMID:25110875|PMID:25194673|PMID:25370038|PMID:25525159|PMID:25648859|PMID:25673086|PMID:25741868|PMID:26333163|PMID:26344056|PMID:26467025|PMID:26681312|PMID:26692440|PMID:26866578|PMID:26951660|PMID:26976419|PMID:2712738|PMID:27363726|PMID:27601186|PMID:27618451|PMID:28202063|PMID:28449805|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29345684|PMID:29442399|PMID:29641532|PMID:29887214|PMID:29945567|PMID:29967336|PMID:30322717|PMID:31068090|PMID:31159747|PMID:31237724|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:32658311|PMID:32980694|PMID:33309985|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33558524|PMID:34213665|PMID:35224146|PMID:35487642|PMID:35676339|PMID:36457512|PMID:36593122|PMID:36627197|PMID:8521394|PMID:9298827|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:15870899|REF_RGD_ID:2293514
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:2695166|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27628256|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31494577|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32741062|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11420466|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11854906|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14692024|PMID:14871975|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16216036|PMID:16237223|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17128465|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17846840|PMID:17939062|PMID:18033691|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28785832|PMID:28828701|PMID:28873162
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31512090|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31666926|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32019277|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32741062|PMID:32849802|PMID:32941469|PMID:32957588|PMID:32986223|PMID:32994724|PMID:33357406|PMID:33383211|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34347074|PMID:34371384|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22086678|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27287813|PMID:27328445|PMID:27329137|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28195393|PMID:28202063|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28779002|PMID:28785832|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29050249|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29506494|PMID:29568967|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29690800|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29752822|PMID:29769598|PMID:29887214|PMID:29889250|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30702970|PMID:30723297|PMID:30740824|PMID:30742731|PMID:30798936|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31843900|PMID:31857677|PMID:31881200|PMID:31882575|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32849802|PMID:32885271|PMID:32941469|PMID:32957588|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34117267|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34755017|PMID:34906448|PMID:3616036|PMID:6096739|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8723682|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9621522|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18822302|PMID:18931482
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22039344|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22585170|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34178123
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33850299|PMID:33939675|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34646395|PMID:34755017|PMID:34837403|PMID:34906448|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35884469|PMID:36073783|PMID:3616036|PMID:6096739|PMID:6329717|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10564582|PMID:10573010|PMID:1061282|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22144684|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30217226|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29174094|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18674656|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:206672385|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27854218|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28929227|PMID:28932927|PMID:28944238|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32141610|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32424176|PMID:32443704|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33110269|PMID:33191490|PMID:33208383|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33939675|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34326862|PMID:34347074|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34680242|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35128723|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35666082|PMID:35676339|PMID:35884469|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36243179|PMID:3658675|PMID:36672847|PMID:36845387|PMID:36988593|PMID:6096739|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11769729|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12419761|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18550572|PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141|PMID:26247049
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931|PMID:31647837|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31673425
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31857677|PMID:31882575|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33015532|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:36135357|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:38136308|PMID:38139220|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023327|PMID:10024676|PMID:10051005|PMID:10077621|PMID:10080150|PMID:10190329|PMID:10196371|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10397236|PMID:10404063|PMID:10413423|PMID:10422993|PMID:10432927|PMID:10446963|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10528862|PMID:10530344|PMID:10564582|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10693791|PMID:10713887|PMID:10732761|PMID:10777691|PMID:10793088|PMID:10812001|PMID:10874307|PMID:10874318|PMID:10970737|PMID:10978353|PMID:10992298|PMID:10995807|PMID:11007253|PMID:11048710|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11376800|PMID:11379475|PMID:11385712|PMID:11393127|PMID:11420466|PMID:11524701|PMID:11532035|PMID:11555625|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11691782|PMID:11720433|PMID:11726306|PMID:11754112|PMID:11772966|PMID:11782355|PMID:11809679|PMID:11839723|PMID:11854906|PMID:11859205|PMID:11870161|PMID:11879922|PMID:11910346|PMID:11920458|PMID:11920650|PMID:11975096|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12324578|PMID:12352241|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12385013|PMID:12386821|PMID:12414824|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12537652|PMID:12547705|PMID:12624141|PMID:12626904|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12702580|PMID:12792735|PMID:12875840|PMID:12907901|PMID:12949792|PMID:14499697|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14518068|PMID:14526391|PMID:14574010|PMID:14574162|PMID:14574163|PMID:14580774|PMID:14594944|PMID:14635101|PMID:14668545|PMID:14692024|PMID:14871975|PMID:14961575|PMID:14970868|PMID:15046089|PMID:15075785|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15235034|PMID:15235038|PMID:15254659|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15340835|PMID:15342696|PMID:15345113|PMID:15350299|PMID:15365995|PMID:15365996|PMID:15516845|PMID:15520224|PMID:15520370|PMID:15527911|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15680406|PMID:15713769|PMID:15731775|PMID:15786548|PMID:15824023|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15858146|PMID:1586275|PMID:15862756|PMID:15870828|PMID:15872200|PMID:1589646|PMID:15896463|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15945244|PMID:15947132|PMID:15955785|PMID:15959913|PMID:15991308|PMID:15991314|PMID:15996210|PMID:16007150|PMID:16015629|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16175654|PMID:16181381|PMID:16199547|PMID:16199548|PMID:16203774|PMID:16206289|PMID:16214425|PMID:16216036|PMID:16237223|PMID:16264161|PMID:16288214|PMID:16311127|PMID:16327991|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16408224|PMID:16425354|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16476474|PMID:16534870|PMID:16574953|PMID:16614121|PMID:16616355|PMID:16636019|PMID:16639607|PMID:16736289|PMID:16803540|PMID:16807412|PMID:16810763|PMID:16826164|PMID:16830052|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:16996571|PMID:17011982|PMID:17014712|PMID:17026620|PMID:17051350|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17101317|PMID:1710317|PMID:17123147|PMID:17128465|PMID:17165155|PMID:17186090|PMID:17189986|PMID:17192056|PMID:17199584|PMID:17229076|PMID:17250665|PMID:17250671|PMID:17312306|PMID:17348456|PMID:17350822|PMID:17374836|PMID:17389002|PMID:17414604|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17555131|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17665423|PMID:17720936|PMID:17846840|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18257912|PMID:18270343|PMID:18289827|PMID:18307539|PMID:18325052|PMID:18383312|PMID:18389388|PMID:18406877|PMID:18415027|PMID:18446350|PMID:18460031|PMID:18470917|PMID:18547406|PMID:18550572
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18559331|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636359|PMID:18641418|PMID:18674656|PMID:18713544|PMID:187139|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18781192|PMID:18781619|PMID:18803051|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18841495|PMID:18931482|PMID:18951462|PMID:18951465|PMID:18987546|PMID:18990764|PMID:19047842|PMID:19072991|PMID:19100506|PMID:19101824|PMID:19117025|PMID:19130300|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19367322|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19495563|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19659756|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19706203|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931261|PMID:19931546|PMID:20007843|PMID:20010080|PMID:20043121|PMID:20052760|PMID:20068152|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20301390|PMID:20305446|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20850175|PMID:20872076|PMID:20877318|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21156417|PMID:21225464|PMID:21239990|PMID:21255554|PMID:2126155|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21419771|PMID:21431882|PMID:21520333|PMID:21521882|PMID:21528233|PMID:21550136|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21788563|PMID:21791569|PMID:21837758|PMID:21868491|PMID:21879275|PMID:21926548|PMID:22006311|PMID:22034109|PMID:22067334|PMID:22081473|PMID:22086678|PMID:22086974|PMID:22102614|PMID:22120844|PMID:22166501|PMID:22179786|PMID:22208277|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22321913|PMID:22322191|PMID:22371642|PMID:22480969|PMID:22495361|PMID:22516243|PMID:22581703|PMID:22658618|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22712459|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22933731|PMID:22949379|PMID:22949387|PMID:22977643|PMID:22987205|PMID:22995991|PMID:23012121|PMID:23047549|PMID:23170986|PMID:23248292|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23359684|PMID:23443670|PMID:23454724|PMID:23523604|PMID:23526924|PMID:23537056|PMID:23573243|PMID:23588873|PMID:23604856|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24073290|PMID:24078570|PMID:24082139|PMID:24090359|PMID:24100870|PMID:24114314|PMID:24194902|PMID:24240112|PMID:24244552|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24396821|PMID:24415873|PMID:24474082|PMID:24501230|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24735542|PMID:24737826|PMID:24763289|PMID:24767862|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24969397|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25117502|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25173403|PMID:25186627|PMID:25194673|PMID:25200962|PMID:25203624|PMID:25213213|PMID:25224212|PMID:25307252|PMID:25318351|PMID:25326637|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25569433|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25712738|PMID:25741868|PMID:25782445|PMID:25795746|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25964535|PMID:25980754|PMID:25987035|PMID:26053027|PMID:26076155|PMID:26092435|PMID:26094658|PMID:26096739|PMID:261128|PMID:26116798|PMID:26177554|PMID:26182300|PMID:26202870|PMID:26206375|PMID:26221039|PMID:2624141
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26247049|PMID:26248088|PMID:26249337|PMID:26250988|PMID:26270727|PMID:26289772|PMID:26300997|PMID:26315971|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26380806|PMID:26381082|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26528695|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26635394|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26718727|PMID:26743474|PMID:26810070|PMID:26811195|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26878173|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26951660|PMID:26976419|PMID:26991699|PMID:27007491|PMID:27013479|PMID:27016151|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27284491|PMID:27287813|PMID:27300758|PMID:273149|PMID:27328445|PMID:27329137|PMID:27363726|PMID:27413415|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27516001|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27873144|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28125075|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176205|PMID:28188963|PMID:28195393|PMID:28202063|PMID:28206961|PMID:28258479|PMID:28376765|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28491141|PMID:28492532|PMID:28494185|PMID:28498244|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28537014|PMID:28569743|PMID:28577310|PMID:28580595|PMID:28640387|PMID:28643016|PMID:28687971|PMID:28706299|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28779002|PMID:28785832|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28929227|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29020732|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29164703|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29238914|PMID:29302048|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29659587|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29706558|PMID:29706640|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29769598|PMID:29882764|PMID:29887214|PMID:29889250|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30019097|PMID:30029678|PMID:30044143|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30122538|PMID:30131383|PMID:30152102|PMID:30212499|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30402230|PMID:30426508|PMID:30441849|PMID:30504929|PMID:30521064|PMID:30553995|PMID:30584090|PMID:30608896|PMID:30613976|PMID:30630526|PMID:30651582|PMID:30680046|PMID:30693488|PMID:30702970|PMID:30723297|PMID:30729418|PMID:30740824|PMID:30742731|PMID:30787465|PMID:30788456|PMID:30798936|PMID:30802454|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30918532|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31111311|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31197828|PMID:31205225|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248416|PMID:31248605|PMID:31265121|PMID:31297992|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31366136|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31433215|PMID:31444830|PMID:31447099|PMID:31465090|PMID:31484976|PMID:31491536|PMID:31494577|PMID:31512090|PMID:31552911|PMID:31569399|PMID:31588121|PMID:31592449|PMID:31615790|PMID:31642931
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31647837|PMID:31650731|PMID:31660093|PMID:31664942|PMID:31666926|PMID:31673425|PMID:31692600|PMID:31742824|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31844177|PMID:31854063|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31939059|PMID:31948886|PMID:31970404|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32075053|PMID:32090079|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32268276|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32390558|PMID:32424176|PMID:32443704|PMID:32447321|PMID:32453797|PMID:32459922|PMID:32489267|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32549215|PMID:32566746|PMID:3258778|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32926152|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33003368|PMID:33015532|PMID:33048355|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33208383|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33326660|PMID:33357406|PMID:333574060|PMID:33359728|PMID:33383211|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33468175|PMID:33468869|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33580181|PMID:33606809|PMID:33615670|PMID:33630411|PMID:33646313|PMID:33693762|PMID:33726816|PMID:33746161|PMID:33827469|PMID:33848333|PMID:33850299|PMID:33858029|PMID:33866195|PMID:33939675|PMID:33977078|PMID:33980423|PMID:34039291|PMID:34082788|PMID:34083606|PMID:34115236|PMID:34117267|PMID:34127009|PMID:34178123|PMID:34204722|PMID:34213665|PMID:34250417|PMID:34282249|PMID:34284872|PMID:34326862|PMID:34330892|PMID:34347074|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445631|PMID:34482403|PMID:34567566|PMID:34570441|PMID:34646395|PMID:34667028|PMID:34676052|PMID:34680242|PMID:34712484|PMID:34755017|PMID:34761252|PMID:34761457|PMID:34837403|PMID:34897210|PMID:34906448|PMID:34964002|PMID:35039564|PMID:35100712|PMID:35127508|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35245693|PMID:35260566|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35358259|PMID:35370679|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35477782|PMID:35487642|PMID:35534704|PMID:35574377|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35734982|PMID:35884469|PMID:35980532|PMID:36011265|PMID:36073783|PMID:36113988|PMID:3616036|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36293153|PMID:36303034|PMID:36356413|PMID:36359527|PMID:36421850|PMID:36446039|PMID:36451132|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36672847|PMID:36790526|PMID:36793599|PMID:36845387|PMID:36875157|PMID:36896836|PMID:36988593|PMID:37088804|PMID:37262986|PMID:37314251|PMID:37894291|PMID:37937776|PMID:38136308|PMID:38139220|PMID:38295319|PMID:38355628|PMID:38509102|PMID:38762859|PMID:39004446|PMID:39301527|PMID:39455978|PMID:439855|PMID:580563|PMID:6096739|PMID:625353|PMID:6329717|PMID:6530882|PMID:6951660|PMID:7585065|PMID:7616541|PMID:7713503|PMID:7717919|PMID:7726159|PMID:777949|PMID:7874129|PMID:7881432|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8484120|PMID:8509102|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8700523|PMID:8723682|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8931714|PMID:8952554|PMID:8993976|PMID:8993979|PMID:9002677|PMID:9036882|PMID:9048925|PMID:9066723|PMID:9087566|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9259192|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9419403|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9621522|PMID:9630599|PMID:9634524|PMID:9709044|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10404063|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10495924|PMID:10523644|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10812001|PMID:10874307|PMID:10970737|PMID:10978353|PMID:11074494|PMID:11112663|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11782355|PMID:11920650|PMID:12112654|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12386821|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12624141|PMID:12658575|PMID:12875840|PMID:12907901|PMID:14504054|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14635101|PMID:14692024|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15345113|PMID:15365995|PMID:15520370|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16327991|PMID:16341550|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16736289|PMID:16807412|PMID:16826164|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17051350|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17123147|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17894833|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19697156|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:20007843|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21156417|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21837758|PMID:21879275|PMID:21926548|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22102614|PMID:22179786|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22581703|PMID:22669205|PMID:22691310|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23012121|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23454724|PMID:23523604|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24278394|PMID:24310308|PMID:24323032|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24501230|PMID:24549055|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24767862|PMID:24903654|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086|PMID:25741868|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26177554|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26467025
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer predisposing syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26681312|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27153395|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28051113|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28258479|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28514183|PMID:28526081|PMID:28577310|PMID:28580595|PMID:28596308|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29025590|PMID:29107668|PMID:29212164|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29571084|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30029678|PMID:30077346|PMID:30122538|PMID:30217226|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30693488|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31162827|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31725351|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31997046|PMID:32090079|PMID:32091409|PMID:32255556|PMID:32390558|PMID:32459922|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32694065|PMID:32794040|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33646313|PMID:33654310|PMID:33848333|PMID:33939675|PMID:33977078|PMID:34082788|PMID:34115236|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34680242|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:34990208|PMID:35100712|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35680043|PMID:35892341|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36425062|PMID:36457512|PMID:36531003|PMID:36550560|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36845387|PMID:36972026|PMID:36988593|PMID:37088804|PMID:37239438|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39256447|PMID:39301527|PMID:39400928|PMID:6530882|PMID:7616541|PMID:7726159|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8640829|PMID:8690195|PMID:8808596|PMID:8880570|PMID:9048925|PMID:9066723|PMID:9222765|PMID:9240418|PMID:9419403|PMID:9536098|PMID:9634524|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10404063|PMID:10448273|PMID:10469597|PMID:10480359|PMID:10523644|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10812001|PMID:10874307|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11074494|PMID:11112663|PMID:11151427|PMID:11291077|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11772966|PMID:11782355|PMID:11920650|PMID:12112654|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12386821|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12624141|PMID:12658575|PMID:12875840|PMID:12907901|PMID:14499697|PMID:14504054|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14635101|PMID:14692024|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15345113|PMID:15365995|PMID:15520370|PMID:15527911|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16327991|PMID:16341550|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16826164|PMID:16884359|PMID:16885385|PMID:16902769|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17051350|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17123147|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17894833|PMID:17939062|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20052760|PMID:20176959|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21156417|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21837758|PMID:21879275|PMID:21926548|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22102614|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22669205|PMID:22691310|PMID:22739024|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23012121|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23454724|PMID:23523604|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24090359|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24501230|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24767862|PMID:24903654|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25032700|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25648859|PMID:25673086|PMID:25741868|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26332594|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26446363|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28258479|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28514183|PMID:28577310|PMID:28580595|PMID:28596308|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29025590|PMID:29050249|PMID:29107668|PMID:29212164|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30077346|PMID:30093976|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30693488|PMID:30702970|PMID:30710526|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31428572|PMID:31447099|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31725351|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32390558|PMID:32459922|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32694065|PMID:32720330|PMID:32794040|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33606809|PMID:33615670|PMID:33646313|PMID:33654310|PMID:33848333|PMID:33858029|PMID:33866195|PMID:33939675|PMID:34082788|PMID:34115236|PMID:34178123|PMID:34203177|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34330892|PMID:34359559|PMID:34570441|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34964002|PMID:34990208|PMID:35100712|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35680043|PMID:35884469|PMID:35892341|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36425062|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:36586540|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36845387|PMID:36875157|PMID:36972026|PMID:36988593|PMID:37088804|PMID:37239438|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:39400928|PMID:6530882|PMID:7616541|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8808596|PMID:8872463|PMID:8880570|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9634524|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10077621|PMID:10080150|PMID:10190329|PMID:10404063|PMID:10422993|PMID:10448273|PMID:10469597|PMID:10471663|PMID:10480359|PMID:10523644|PMID:10573010|PMID:10612827|PMID:10612836|PMID:10777691|PMID:10812001|PMID:10874307|PMID:10970737|PMID:10978353|PMID:10995807|PMID:11074494|PMID:11112663|PMID:11291077|PMID:11379475|PMID:11524701|PMID:11579115|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11772966|PMID:11782355|PMID:11920650|PMID:12112654|PMID:12115503|PMID:12124176|PMID:12132870|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12376507|PMID:12377806|PMID:12386821|PMID:12436451|PMID:12454801|PMID:12494471|PMID:12519945|PMID:12522549|PMID:12624141|PMID:12658575|PMID:12875840|PMID:12907901|PMID:14504054|PMID:14514376|PMID:14526391|PMID:14574162|PMID:14574163|PMID:14635101|PMID:14692024|PMID:14970868|PMID:15102357|PMID:15178966|PMID:15217520|PMID:15222003|PMID:15235030|PMID:15300854|PMID:15340264|PMID:15340835|PMID:15345113|PMID:15365995|PMID:15520370|PMID:15680406|PMID:15713769|PMID:15849733|PMID:15855432|PMID:15858146|PMID:15862756|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15929773|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16007150|PMID:16034045|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16327991|PMID:16341550|PMID:16395668|PMID:16426447|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16826164|PMID:16884359|PMID:16902769|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17051350|PMID:17074586|PMID:17095871|PMID:17101317|PMID:17123147|PMID:17192056|PMID:17199584|PMID:17312306|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17483304|PMID:17505997|PMID:17531815|PMID:17576681|PMID:17594722|PMID:17601929|PMID:17653898|PMID:17661183|PMID:17720936|PMID:17894833|PMID:17939062|PMID:17973265|PMID:18033691|PMID:18186571|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18759827|PMID:18781192|PMID:18805575|PMID:18809606|PMID:18822302|PMID:18931482|PMID:18951462|PMID:18987546|PMID:19072991|PMID:19100506|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19621678|PMID:19669161|PMID:19669601|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19723918|PMID:19728162|PMID:19731080|PMID:19760518|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20052760|PMID:20176959|PMID:20223042|PMID:20223835|PMID:20233461|PMID:20373145|PMID:20388775|PMID:20459533|PMID:20587412|PMID:20591884|PMID:20600922|PMID:20672385|PMID:20682701|PMID:20805886|PMID:20937110|PMID:20965939|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21156417|PMID:21239990|PMID:21286823|PMID:21309037|PMID:21311894|PMID:21360204|PMID:21387278|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21684182|PMID:21778331|PMID:21837758|PMID:21879275|PMID:21926548|PMID:22039344|PMID:22067334|PMID:22081473|PMID:22102614|PMID:22166501|PMID:22179786|PMID:22234272|PMID:22283331|PMID:22290698|PMID:22371642|PMID:22480969|PMID:22581703|PMID:22669205|PMID:22691310|PMID:22703879|PMID:22776989|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23012121|PMID:23047549|PMID:23248292|PMID:23354017|PMID:23354634|PMID:23454724|PMID:23523604|PMID:23612316|PMID:23640085|PMID:23690608|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:23960188|PMID:23990280|PMID:24033266|PMID:24082139|PMID:24240112|PMID:24278394|PMID:24310308|PMID:24326041|PMID:24333619|PMID:24344984|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24501230|PMID:24549055|PMID:24556621|PMID:24603434|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24767862|PMID:24903654|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25224212|PMID:25370038|PMID:25420488|PMID:25430799|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25639900|PMID:25648859|PMID:25673086
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25741868|PMID:25871441|PMID:25872134|PMID:25892863|PMID:25938944|PMID:25980754|PMID:26053027|PMID:26076155|PMID:26247049|PMID:26248088|PMID:26249337|PMID:26333163|PMID:26344056|PMID:26381082|PMID:26446363|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26648449|PMID:26659599|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26810070|PMID:26822237|PMID:26824983|PMID:26845104|PMID:26866578|PMID:26951660|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27443514|PMID:27449771|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27618451|PMID:27629256|PMID:27696107|PMID:27713421|PMID:27720647|PMID:27863258|PMID:27920101|PMID:27930734|PMID:27974047|PMID:27978560|PMID:28008009|PMID:28050010|PMID:28051113|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28202063|PMID:28258479|PMID:28422960|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28502729|PMID:28514183|PMID:28577310|PMID:28580595|PMID:28596308|PMID:28640387|PMID:28687971|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28769567|PMID:28790115|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29025590|PMID:29107668|PMID:29212164|PMID:29333623|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29371908|PMID:29383008|PMID:29439113|PMID:29442399|PMID:29568967|PMID:29571084|PMID:29575718|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29690800|PMID:29703253|PMID:29718441|PMID:29731845|PMID:29750335|PMID:29752822|PMID:29758216|PMID:29785153|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29967423|PMID:29987844|PMID:30077346|PMID:30122538|PMID:30238922|PMID:30251116|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30584090|PMID:30608896|PMID:30693488|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30803214|PMID:30809968|PMID:30833958|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31159747|PMID:31207149|PMID:31235699|PMID:31237724|PMID:31248605|PMID:31265121|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31396961|PMID:31422574|PMID:31428572|PMID:31447099|PMID:31494577|PMID:31569399|PMID:31588121|PMID:31615790|PMID:31650731|PMID:31660093|PMID:31666926|PMID:31725351|PMID:31742824|PMID:31822864|PMID:31843900|PMID:31997046|PMID:32068069|PMID:32091409|PMID:32255556|PMID:32390558|PMID:32459922|PMID:32547938|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32658311|PMID:32660107|PMID:32694065|PMID:32720330|PMID:32794040|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33015532|PMID:33110269|PMID:3313277|PMID:33191490|PMID:33193653|PMID:33259954|PMID:33294277|PMID:33309985|PMID:33357406|PMID:333574060|PMID:33383211|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33615670|PMID:33646313|PMID:33654310|PMID:33848333|PMID:33858029|PMID:33939675|PMID:34082788|PMID:34115236|PMID:34178123|PMID:34213665|PMID:34250417|PMID:34326862|PMID:34359559|PMID:34761252|PMID:34761457|PMID:34906448|PMID:34906453|PMID:34964002|PMID:34990208|PMID:35100712|PMID:35171259|PMID:35223509|PMID:35224146|PMID:35358259|PMID:35402282|PMID:35428255|PMID:35430768|PMID:35449021|PMID:35449176|PMID:35487642|PMID:35534704|PMID:35638907|PMID:35666082|PMID:35676339|PMID:35680043|PMID:35892341|PMID:35980532|PMID:36113988|PMID:36230473|PMID:36243179|PMID:36359527|PMID:36425062|PMID:36457512|PMID:36522531|PMID:36531003|PMID:36550560|PMID:36586540|PMID:3658675|PMID:36593122|PMID:36624813|PMID:36627197|PMID:36672847|PMID:36845387|PMID:36875157|PMID:36972026|PMID:36988593|PMID:37088804|PMID:37239438|PMID:37370996|PMID:37894291|PMID:37919876|PMID:37937776|PMID:38355628|PMID:38731914|PMID:39004446|PMID:39096151|PMID:39301527|PMID:39400928|PMID:6530882|PMID:7726159|PMID:7874129|PMID:7937795|PMID:8062247|PMID:8261515|PMID:8521394
12073611	MSH2	mutS homolog 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732745	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8574961|PMID:8592341|PMID:8613431|PMID:8640829|PMID:8690195|PMID:8808596|PMID:8872463|PMID:9002677|PMID:9048925|PMID:9066723|PMID:9125109|PMID:9222765|PMID:9240418|PMID:9298827|PMID:9419403|PMID:9536098|PMID:9634524|PMID:9718327|PMID:9774676|PMID:9777949
12073611	MSH2	mutS homolog 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620786	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus, neuron	PMID:10625070|REF_RGD_ID:2293528
12073611	MSH2	mutS homolog 2	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:16288216|REF_RGD_ID:2293511
12073611	MSH2	mutS homolog 2	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of the central nervous system	PMID:18383312|PMID:22290698|PMID:25741868|PMID:26467025|PMID:26810070|PMID:27363726|PMID:28492532|PMID:33357406|PMID:33848333|PMID:35666082|PMID:35980532|PMID:9718327
12073611	MSH2	mutS homolog 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD			PMID:11920468|REF_RGD_ID:2293523
12073611	MSH2	mutS homolog 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		DNA, protein:mutation, decreased expression:endometrium	PMID:17925543|REF_RGD_ID:2298951
12073611	MSH2	mutS homolog 2	gene	DOID:9007998	Hydatidiform Mole, Invasive		ISO	RGD:732745	D	RGD:9068941	20200609	RGD		protein:decreased expression:mononuclear cytotrophoblast cell	PMID:15338238|REF_RGD_ID:2293517
12073611	MSH2	mutS homolog 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28767289|PMID:30262796|PMID:33471991|PMID:33848333|PMID:36243179
12073611	MSH2	mutS homolog 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949393
12073611	MSH2	mutS homolog 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732745	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11074494|PMID:11782355|PMID:15235030|PMID:15365995|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16395668|PMID:16807412|PMID:17576681|PMID:18033691|PMID:18805575|PMID:19669161|PMID:21360204|PMID:21520333|PMID:21642682|PMID:22949387|PMID:24362816|PMID:24903654|PMID:25025451|PMID:25559809|PMID:25741868|PMID:26247049|PMID:26467025|PMID:27064304|PMID:27363726|PMID:28152038|PMID:28466842|PMID:28492532|PMID:28765196|PMID:30521064|PMID:31101557|PMID:36113988|PMID:9536098
12073611	MSH2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31843900|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15520370|PMID:15849733|PMID:15872200|PMID:16574953|PMID:1710317|PMID:17531815|PMID:18033691|PMID:18383312|PMID:18822302|PMID:18951462|PMID:19389263|PMID:21520333|PMID:23047549|PMID:24033266|PMID:24728327|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26344056|PMID:26648449|PMID:26951660|PMID:27153395|PMID:27601186|PMID:28125075|PMID:28195393|PMID:28492532|PMID:28874130|PMID:29212164|PMID:29368341|PMID:29945567|PMID:30374176|PMID:30798936|PMID:31391288|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:34117267|PMID:34906448|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11208710|PMID:15849733|PMID:1710317|PMID:17531815|PMID:18822302|PMID:18951462|PMID:21520333|PMID:25637381|PMID:25741868|PMID:26648449|PMID:26951660|PMID:28492532|PMID:30798936|PMID:31843900|PMID:33357406|PMID:33393477|PMID:33471991|PMID:33848333|PMID:34906448|PMID:9774676
12073611	MSH2	mutS homolog 2	gene	DOID:9460	uterine corpus cancer		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus cancer	
12073611	MSH2	mutS homolog 2	gene	DOID:9970	obesity		ISO	RGD:732745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33357406|PMID:34326862
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:0050432	Asperger syndrome		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asperger syndrome, X-linked, susceptibility to, 2	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603020	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:10376	amblyopia		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1603020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:32564284|PMID:34963808
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18093521|PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tourette syndrome	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:1143	exotropia		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:11830	myopia		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1603020	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Mental retardation, X-linked | ClinVar Annotator: match by term: NLGN4X-related condition	PMID:11368788|PMID:12669065|PMID:14963808|PMID:15150161|PMID:15622415|PMID:18231125|PMID:19377476|PMID:23431752|PMID:25326635|PMID:25741868|PMID:28492532
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 | ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: NLGN4X-related condition	PMID:11368788|PMID:12669065|PMID:14963808|PMID:15150161|PMID:15622415|PMID:18189281|PMID:18231125|PMID:19726642|PMID:23431752|PMID:23468870|PMID:24570023|PMID:25326635|PMID:25675530|PMID:25741868|PMID:26055424|PMID:28492532|PMID:34963808
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1603020	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 2 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: NLGN4X-related condition	PMID:11368788|PMID:12669065|PMID:14963808|PMID:15622415|PMID:18189281|PMID:18231125|PMID:19726642|PMID:23431752|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:28492532|PMID:34963808
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1603020	D	RGD:7240710	20260812	OMIM			
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:1432	blindness		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:2030	anxiety disorder		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:3070	high grade glioma		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18093521|PMID:25741868|PMID:28492532
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9002189	High Myopia		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:34963808
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked complex neurodevelopmental disorder	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9008421	Epistaxis		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:18093521
12073640	NLGN4X	neuroligin 4 X-linked	gene	DOID:930	orbital disease		ISO	RGD:1603020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:18189281|PMID:18231125|PMID:19726642|PMID:23468870|PMID:24570023|PMID:25675530|PMID:25741868|PMID:26055424|PMID:34963808
12073695	C20H3orf18	chromosome 20 C3orf18 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073695	C20H3orf18	chromosome 20 C3orf18 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073695	C20H3orf18	chromosome 20 C3orf18 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073695	C20H3orf18	chromosome 20 C3orf18 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:9005951	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1604770	D	RGD:7240710	20240327	OMIM			
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:9005951	NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1604770	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: NSRP1-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities	PMID:25741868
12073705	NSRP1	nuclear speckle splicing regulatory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073722	CLRN2	clarin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073722	CLRN2	clarin 2	gene	DOID:0070671	autosomal recessive nonsyndromic deafness 117		ISO	RGD:2291757	D	RGD:7240710	20210303	OMIM			
12073722	CLRN2	clarin 2	gene	DOID:0070671	autosomal recessive nonsyndromic deafness 117		ISO	RGD:2291757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLRN2-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 117	PMID:25741868
12073722	CLRN2	clarin 2	gene	DOID:9001733	Tinnitus		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
12073722	CLRN2	clarin 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:2291757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:1324	lung cancer		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:1909	melanoma		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:3275	thymoma		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073746	RIN1	Ras and Rab interactor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073761	ZFP82	ZFP82 zinc finger protein	gene	DOID:10534	stomach cancer		ISO	RGD:1345340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073761	ZFP82	ZFP82 zinc finger protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073761	ZFP82	ZFP82 zinc finger protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073761	ZFP82	ZFP82 zinc finger protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073761	ZFP82	ZFP82 zinc finger protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073775	H3-4	H3.4 histone, cluster member	gene	DOID:10316	pneumoconiosis		ISO	RGD:1317808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
12073775	H3-4	H3.4 histone, cluster member	gene	DOID:1059	intellectual disability		ISO	RGD:1317808	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12073781	SRXN1	sulfiredoxin 1	gene	DOID:3275	thymoma		ISO	RGD:1316466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12073781	SRXN1	sulfiredoxin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073791	ZNF641	zinc finger protein 641	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073791	ZNF641	zinc finger protein 641	gene	DOID:4362	cervical cancer		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073791	ZNF641	zinc finger protein 641	gene	DOID:5041	esophageal cancer		ISO	RGD:1606174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073791	ZNF641	zinc finger protein 641	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073791	ZNF641	zinc finger protein 641	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:0060249	scoliosis		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:7240710	20190315	OMIM			
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:0080245	Galloway-Mowat syndrome 3		ISO	RGD:1318432	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 3 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 3 | ClinVar Annotator: match by term: OSGEP-related condition	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:29127259|PMID:30141175|PMID:30558655|PMID:31481669|PMID:31564459|PMID:33333793|PMID:33532864|PMID:34666032|PMID:35709690|PMID:35783322|PMID:36063408|PMID:36587794|PMID:36658419|PMID:36856752|PMID:37229200|PMID:37845138
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318432	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28805828
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:10907	microcephaly		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:1324	lung cancer		ISO	RGD:1318432	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:1826	epilepsy		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:630	genetic disease		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175|PMID:34666032
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9001581	Constipation		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28805828
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9004866	Ataxia		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9007661	Dwarfism		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28272532|PMID:28492532|PMID:28805828|PMID:30141175
12073804	OSGEP	O-sialoglycoprotein endopeptidase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318432	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:28805828|PMID:36063408
12073945	ADORA1	adenosine A1 receptor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:18787037|REF_RGD_ID:5129100
12073945	ADORA1	adenosine A1 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073945	ADORA1	adenosine A1 receptor	gene	DOID:0051064	left ventricular failure		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Hypertrophy, Left Ventricular;protein:increased expression:left heart ventricle	PMID:17211253|REF_RGD_ID:1625225
12073945	ADORA1	adenosine A1 receptor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16226742
12073945	ADORA1	adenosine A1 receptor	gene	DOID:0060500	drug allergy		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19019667
12073945	ADORA1	adenosine A1 receptor	gene	DOID:10763	hypertension		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:8998253|REF_RGD_ID:1625366
12073945	ADORA1	adenosine A1 receptor	gene	DOID:10763	hypertension	no_association	ISO	RGD:730817	D	RGD:9068941	20200609	RGD			PMID:15257174|REF_RGD_ID:1625367
12073945	ADORA1	adenosine A1 receptor	gene	DOID:10763	hypertension	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, experimental	PMID:9597368|REF_RGD_ID:1625365
12073945	ADORA1	adenosine A1 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073945	ADORA1	adenosine A1 receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
12073945	ADORA1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		DNA:SNPs: :1405C>T (human)	PMID:19019667|REF_RGD_ID:4890386
12073945	ADORA1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17959644|REF_RGD_ID:5129097
12073945	ADORA1	adenosine A1 receptor	gene	DOID:2841	asthma		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:20400685|REF_RGD_ID:4145444
12073945	ADORA1	adenosine A1 receptor	gene	DOID:326	ischemia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18950269
12073945	ADORA1	adenosine A1 receptor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
12073945	ADORA1	adenosine A1 receptor	gene	DOID:3526	cerebral infarction		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:17067559|REF_RGD_ID:1625229
12073945	ADORA1	adenosine A1 receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12073945	ADORA1	adenosine A1 receptor	gene	DOID:552	pneumonia		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:15630442|REF_RGD_ID:5129098
12073945	ADORA1	adenosine A1 receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12160945
12073945	ADORA1	adenosine A1 receptor	gene	DOID:850	lung disease		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:18307414|REF_RGD_ID:5129095
12073945	ADORA1	adenosine A1 receptor	gene	DOID:850	lung disease		ISO	RGD:730818	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20729330|REF_RGD_ID:5129093
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:18289533|PMID:20065990|REF_RGD_ID:5129094|REF_RGD_ID:5129096
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:17853654|REF_RGD_ID:4890369
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:20334814|REF_RGD_ID:2317910
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19019667
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18950269
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092996
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19552053|REF_RGD_ID:2313803
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries	PMID:20065990|REF_RGD_ID:5129094
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23437309
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2048	D	RGD:9068941	20220616	RGD		protein:decreased expression:brain:	PMID:25720338|REF_RGD_ID:152995398
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9003805	Catalepsy		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9407998
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9004760	Paroxysmal Dyspnea		ISO	RGD:730817	D	RGD:9068941	20200609	RGD			PMID:21388992|REF_RGD_ID:5129099
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9005372	Inflammation		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:2167912|REF_RGD_ID:5129103
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:11593763|REF_RGD_ID:2313808
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2048	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:16256246|REF_RGD_ID:2313805
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730818	D	RGD:9068941	20200609	RGD			PMID:19276628|REF_RGD_ID:2313804
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:9597368|REF_RGD_ID:1625365
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9006024	Hypotension		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640|PMID:18313046
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9007001	Bradycardia		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313046
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9007039	Ventricular Dysfunction		ISO	RGD:730817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15641640
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:11703426|REF_RGD_ID:2313807
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:15220221|REF_RGD_ID:1625243
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:2048	D	RGD:9068941	20200609	RGD			PMID:12151769|REF_RGD_ID:1625283
12073945	ADORA1	adenosine A1 receptor	gene	DOID:9970	obesity		ISO	RGD:730817	D	RGD:9068941	20200609	RGD		protein:increased expression:visceral adipose tissue:increased density of ligand binding sites on VAT in African American women compared to Caucasian women	PMID:16507638|REF_RGD_ID:1625369
12073958	PIERCE1	piercer of microtubule wall 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073958	PIERCE1	piercer of microtubule wall 1	gene	DOID:1115	sarcoma		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073958	PIERCE1	piercer of microtubule wall 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:0060058	lymphoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:731028	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:10763	hypertension	no_association	ISO	RGD:731028	D	RGD:9068941	20200609	RGD		DNA:SNP:exon, intron:no association with SNPs in codon 240 in exon 8, codon 398 in exon 12 or intron 6	PMID:15304560|REF_RGD_ID:1580969
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:731028	D	RGD:9068941	20200609	RGD		DNA:snps:exon, intron: (human)	PMID:16221215|REF_RGD_ID:1580968
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:1909	melanoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3668	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus, pyramidal cell	PMID:15046873|REF_RGD_ID:1580967
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:2999	granulosa cell tumor		ISO	RGD:731028	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:305	carcinoma		ISO	RGD:731028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:3114	serous cystadenocarcinoma		ISO	RGD:731028	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:3603	mucinous cystadenocarcinoma		ISO	RGD:731028	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:4676	uremia		ISO	RGD:731028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18768591
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731028	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:731028	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731028	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:731028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12073966	SGK1	serum/glucocorticoid regulated kinase 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:731028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16696316
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060037	developmental disorder of mental health		ISO	RGD:1320669	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF	
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0080600	COVID-19		ISO	RGD:1320669	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:28492532
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:7240710	20190315	OMIM			
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:0112093	nuclear type mitochondrial complex I deficiency 3		ISO	RGD:1320669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 3 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 3 | ClinVar Annotator: match by term: NDUFS7-related condition	PMID:10330338|PMID:10360771|PMID:11004438|PMID:17604671|PMID:25741868|PMID:26024641|PMID:28492532|PMID:30369941
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1059	intellectual disability		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:1115	sarcoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:12849	autistic disorder		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3312	bipolar disorder		ISO	RGD:1320669	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:20368511|REF_RGD_ID:6484696
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:3652	Leigh disease		ISO	RGD:1320669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10330338|PMID:10360771|PMID:11004438|PMID:25741868|PMID:28492532|PMID:30369941
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5041	esophageal cancer		ISO	RGD:1320669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:630	genetic disease		ISO	RGD:1320669	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12073994	NDUFS7	NADH:ubiquinone oxidoreductase core subunit S7	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1320669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:12336	male infertility		ISO	RGD:1349750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21565994|PMID:23486916
12074006	LDHC	lactate dehydrogenase C	gene	DOID:1324	lung cancer		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:1909	melanoma		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:3070	high grade glioma		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:3275	thymoma		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074006	LDHC	lactate dehydrogenase C	gene	DOID:850	lung disease		ISO	RGD:1349750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
12074047	PCMTD1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074047	PCMTD1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074047	PCMTD1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074047	PCMTD1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074047	PCMTD1	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074068	VIM	vimentin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074068	VIM	vimentin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12074068	VIM	vimentin	gene	DOID:0080600	COVID-19		ISO	RGD:733128	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12074068	VIM	vimentin	gene	DOID:0110248	cataract 30		ISO	RGD:733128	D	RGD:7240710	20180130	OMIM			
12074068	VIM	vimentin	gene	DOID:0110248	cataract 30		ISO	RGD:733128	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cataract 30	PMID:25741868|PMID:28450710|PMID:28492532
12074068	VIM	vimentin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733128	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19728994|REF_RGD_ID:6480519
12074068	VIM	vimentin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733129	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19728994|REF_RGD_ID:6480519
12074068	VIM	vimentin	gene	DOID:12140	Chagas disease		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22199233|REF_RGD_ID:6480538
12074068	VIM	vimentin	gene	DOID:12140	Chagas disease	severity	ISO	RGD:733128	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22199233|REF_RGD_ID:6480538
12074068	VIM	vimentin	gene	DOID:1289	neurodegenerative disease		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16831193
12074068	VIM	vimentin	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:733128	D	RGD:9068941	20200609	RGD			PMID:6352937|REF_RGD_ID:6480477
12074068	VIM	vimentin	gene	DOID:13241	Behcet's disease		ISO	RGD:733128	D	RGD:9068941	20200609	RGD			PMID:3780056|REF_RGD_ID:6480476
12074068	VIM	vimentin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:733128	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12074068	VIM	vimentin	gene	DOID:1936	atherosclerosis		ISO	RGD:733128	D	RGD:9068941	20200609	RGD		associated with arthritis,rheumatoid	PMID:21362765|REF_RGD_ID:6480618
12074068	VIM	vimentin	gene	DOID:231	motor neuron disease		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16831193
12074068	VIM	vimentin	gene	DOID:2527	nephrosis		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:podocyte	PMID:16418842|REF_RGD_ID:6480447
12074068	VIM	vimentin	gene	DOID:2527	nephrosis		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16418842
12074068	VIM	vimentin	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26801988
12074068	VIM	vimentin	gene	DOID:3393	coronary artery disease		ISO	RGD:733128	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:21938407|REF_RGD_ID:6480617
12074068	VIM	vimentin	gene	DOID:3526	cerebral infarction		ISO	RGD:621646	D	RGD:9068941	20200609	RGD			PMID:18802758|REF_RGD_ID:6480442
12074068	VIM	vimentin	gene	DOID:4236	carcinosarcoma		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15132766
12074068	VIM	vimentin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074068	VIM	vimentin	gene	DOID:5082	liver cirrhosis		ISO	RGD:733128	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513|PMID:26396155|PMID:32659284
12074068	VIM	vimentin	gene	DOID:5485	synovial sarcoma		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15043115
12074068	VIM	vimentin	gene	DOID:557	kidney disease		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31697999
12074068	VIM	vimentin	gene	DOID:5679	retinal disease		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
12074068	VIM	vimentin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074068	VIM	vimentin	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621646	D	RGD:9068941	20200924	RGD		protein:increased expression, increased phosphorylation:lung	PMID:25593290|REF_RGD_ID:38500244
12074068	VIM	vimentin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733128	D	RGD:9068941	20200609	RGD			PMID:21792832|REF_RGD_ID:6480508
12074068	VIM	vimentin	gene	DOID:799	varicose veins		ISO	RGD:733128	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:vein:	PMID:26808710|REF_RGD_ID:11529441
12074068	VIM	vimentin	gene	DOID:7998	hyperthyroidism		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		protein:increased expression, hyperphosphorylation:testis	PMID:17306450|REF_RGD_ID:6480446
12074068	VIM	vimentin	gene	DOID:83	cataract		ISO	RGD:733128	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19126778
12074068	VIM	vimentin	gene	DOID:8398	osteoarthritis		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16876394|PMID:18784066
12074068	VIM	vimentin	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:21250919|REF_RGD_ID:6480511
12074068	VIM	vimentin	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733129	D	RGD:9068941	20200609	RGD			PMID:10225952|REF_RGD_ID:6480471
12074068	VIM	vimentin	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:621646	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex, kidney medulla (rat)	PMID:32416216|REF_RGD_ID:401793731
12074068	VIM	vimentin	gene	DOID:9000784	Fibrosis		ISO	RGD:733128	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: marker/mechanism	PMID:28450285|PMID:31697999
12074068	VIM	vimentin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
12074068	VIM	vimentin	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:733128	D	RGD:9068941	20220616	RGD		associated with stomach cancer; human cells in mouse model	PMID:27431311|REF_RGD_ID:152995400
12074068	VIM	vimentin	gene	DOID:9000972	Fever		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		protein:increased expression:glial cell	PMID:12834255|REF_RGD_ID:1304397
12074068	VIM	vimentin	gene	DOID:9000998	Brain Injuries		ISO	RGD:621646	D	RGD:9068941	20200609	RGD			PMID:15527750|REF_RGD_ID:6480527
12074068	VIM	vimentin	gene	DOID:9000998	Brain Injuries		ISO	RGD:733129	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19728994|REF_RGD_ID:6480519
12074068	VIM	vimentin	gene	DOID:9001036	Penetrating Head Injuries		ISO	RGD:733129	D	RGD:9068941	20200609	RGD			PMID:10225952|REF_RGD_ID:6480471
12074068	VIM	vimentin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621646	D	RGD:9068941	20220520	RGD		associated with Schistosomiasis Japonica; mRNA:increased expression:liver (rat)	PMID:29323718|REF_RGD_ID:38599216
12074068	VIM	vimentin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12074068	VIM	vimentin	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621646	D	RGD:9068941	20200609	RGD			PMID:19199359|REF_RGD_ID:6480440
12074068	VIM	vimentin	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12074068	VIM	vimentin	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:733128	D	RGD:9068941	20200924	RGD		protein:increased phosphorylation:lung	PMID:25593290|REF_RGD_ID:38500244
12074068	VIM	vimentin	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12074068	VIM	vimentin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973|PMID:24763052
12074068	VIM	vimentin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621646	D	RGD:9068941	20200609	RGD			PMID:7516431|REF_RGD_ID:6480480
12074068	VIM	vimentin	gene	DOID:9003919	Urination Disorders		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		associated with spinal cord injuries	PMID:21250919|REF_RGD_ID:6480511
12074068	VIM	vimentin	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
12074068	VIM	vimentin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12074068	VIM	vimentin	gene	DOID:9004657	Weight Gain		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12074068	VIM	vimentin	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:621646	D	RGD:9068941	20200924	RGD		protein:increased phosphorylation:lung	PMID:25593290|REF_RGD_ID:38500244
12074068	VIM	vimentin	gene	DOID:9006008	Closed Head Injuries		ISO	RGD:621646	D	RGD:9068941	20200609	RGD			PMID:8833197|REF_RGD_ID:6480531
12074068	VIM	vimentin	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16831193
12074068	VIM	vimentin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12074068	VIM	vimentin	gene	DOID:9007402	Gliosis		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		associated with alcohol-induced disorders, nervous system;protein:increased expression:astrocyte	PMID:21958862|REF_RGD_ID:6480622
12074068	VIM	vimentin	gene	DOID:9007402	Gliosis		ISO	RGD:621646	D	RGD:9068941	20200609	RGD		associated with head injuries, penetrating	PMID:15684657|REF_RGD_ID:6480626
12074068	VIM	vimentin	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
12074068	VIM	vimentin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21501481|PMID:24014025|PMID:25330770|PMID:27811057
12074068	VIM	vimentin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074068	VIM	vimentin	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:733128	D	RGD:9068941	20200609	RGD			PMID:3780056|REF_RGD_ID:6480476
12074068	VIM	vimentin	gene	DOID:9351	diabetes mellitus		ISO	RGD:733128	D	RGD:9068941	20220527	RGD		associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:increased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
12074081	C32H4orf17	chromosome 32 C4orf17 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074081	C32H4orf17	chromosome 32 C4orf17 homolog	gene	DOID:3275	thymoma		ISO	RGD:1352720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074081	C32H4orf17	chromosome 32 C4orf17 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1352720	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:24033266|PMID:25741868|PMID:27647349|PMID:28112205|PMID:28492532|PMID:33046446
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060180	colitis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colitis	PMID:25741868
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:7240710	20190315	OMIM			
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:0111984	immunodeficiency 58		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARMIL2-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 58 | ClinVar Annotator: match by term: Severe combined immunodeficiency due to CARMIL2 deficiency	PMID:16199547|PMID:24033266|PMID:25741868|PMID:27647349|PMID:27896283|PMID:28112205|PMID:28492532|PMID:29479355|PMID:35753512
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:1324	lung cancer		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:1909	melanoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:630	genetic disease		ISO	RGD:1605284	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24033266|PMID:25741868|PMID:28492532
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074103	CARMIL2	capping protein regulator and myosin 1 linker 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1348418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1348418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:2316	brain ischemia		ISO	RGD:620189	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:7643220|REF_RGD_ID:632531
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:2841	asthma		ISO	RGD:620189	D	RGD:9068941	20200609	RGD			PMID:17145927|REF_RGD_ID:1601020
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1348418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:9007475	Pulmonary Surfactant Metabolism Dysfunction 5		ISO	RGD:1348418	D	RGD:7240710	20180130	OMIM			
12074140	CSF2RB	colony stimulating factor 2 receptor subunit beta	gene	DOID:9007475	Pulmonary Surfactant Metabolism Dysfunction 5		ISO	RGD:1348418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CSF2RB DEFICIENCY | ClinVar Annotator: match by term: CSF2RB-related condition | ClinVar Annotator: match by term: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 | ClinVar Annotator: match by term: Surfactant metabolism dysfunction, pulmonary, 5	PMID:17576681|PMID:21205713|PMID:25741868|PMID:28492532|PMID:9536098
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:1324	lung cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:2394	ovarian cancer		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:3070	high grade glioma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312755	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074162	CEBPZ	CCAAT enhancer binding protein zeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:1324	lung cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:1909	melanoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27224918
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074185	SLC16A3	solute carrier family 16 member 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22313602
12074207	ZNF792	zinc finger protein 792	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074207	ZNF792	zinc finger protein 792	gene	DOID:1115	sarcoma		ISO	RGD:1606468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074207	ZNF792	zinc finger protein 792	gene	DOID:1324	lung cancer		ISO	RGD:1606468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074207	ZNF792	zinc finger protein 792	gene	DOID:3275	thymoma		ISO	RGD:1606468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074207	ZNF792	zinc finger protein 792	gene	DOID:4362	cervical cancer		ISO	RGD:1606468	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074207	ZNF792	zinc finger protein 792	gene	DOID:6039	uveal melanoma		ISO	RGD:1606468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12074214	LRRC51	leucine rich repeat containing 51	gene	DOID:9008681	Deafness		ISO	RGD:41410865	D	RGD:9068941	20210521	CTD		CTD Direct Evidence: marker/mechanism	PMID:18953341
12074246	FAM210B	family with sequence similarity 210 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074246	FAM210B	family with sequence similarity 210 member B	gene	DOID:1909	melanoma		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074246	FAM210B	family with sequence similarity 210 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074246	FAM210B	family with sequence similarity 210 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074246	FAM210B	family with sequence similarity 210 member B	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1322808	D	RGD:9068941	20240808	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12074252	CORO1C	coronin 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074252	CORO1C	coronin 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074252	CORO1C	coronin 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074252	CORO1C	coronin 1C	gene	DOID:1115	sarcoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074252	CORO1C	coronin 1C	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1314425	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
12074252	CORO1C	coronin 1C	gene	DOID:1324	lung cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074252	CORO1C	coronin 1C	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1314425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12074252	CORO1C	coronin 1C	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
12074252	CORO1C	coronin 1C	gene	DOID:4362	cervical cancer		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074252	CORO1C	coronin 1C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12074252	CORO1C	coronin 1C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314425	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12074252	CORO1C	coronin 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074252	CORO1C	coronin 1C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074273	SFN	stratifin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20211126	RGD		protein:increased expression:urothelium (human)	PMID:17645415|REF_RGD_ID:2299928
12074273	SFN	stratifin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12074273	SFN	stratifin	gene	DOID:2101	vulva squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypermethylation, decreased expression:vulva	PMID:11896620|REF_RGD_ID:2299936
12074273	SFN	stratifin	gene	DOID:2394	ovarian cancer		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:16773180|REF_RGD_ID:2299930
12074273	SFN	stratifin	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20200609	RGD			PMID:15102672|REF_RGD_ID:2299933
12074273	SFN	stratifin	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:16964403|REF_RGD_ID:2299929
12074273	SFN	stratifin	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD			PMID:16271083|REF_RGD_ID:2299931
12074273	SFN	stratifin	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12074273	SFN	stratifin	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12074273	SFN	stratifin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12074273	SFN	stratifin	gene	DOID:8719	in situ carcinoma		ISO	RGD:1312341	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:vulva	PMID:11896620|REF_RGD_ID:2299936
12074273	SFN	stratifin	gene	DOID:9000058	Keloid		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12074273	SFN	stratifin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12074273	SFN	stratifin	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12074273	SFN	stratifin	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1312341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12074278	THBS1	thrombospondin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074278	THBS1	thrombospondin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345942	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12074278	THBS1	thrombospondin 1	gene	DOID:0080177	hepatic veno-occlusive disease		ISO	RGD:1345942	D	RGD:9068941	20230128	CTD		CTD Direct Evidence: marker/mechanism	PMID:35357534
12074278	THBS1	thrombospondin 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345942	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12074278	THBS1	thrombospondin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:16076702|REF_RGD_ID:2317961
12074278	THBS1	thrombospondin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074278	THBS1	thrombospondin 1	gene	DOID:1063	interstitial nephritis		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16005714
12074278	THBS1	thrombospondin 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1345942	D	RGD:9068941	20231026	RGD		DNA:SNP:CDS:N700S, rs2228262 (human)	PMID:34143713|REF_RGD_ID:401851036
12074278	THBS1	thrombospondin 1	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1345942	D	RGD:9068941	20200609	RGD		protein:decreased expression:bladder	PMID:20299037|REF_RGD_ID:13602099
12074278	THBS1	thrombospondin 1	gene	DOID:1115	sarcoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074278	THBS1	thrombospondin 1	gene	DOID:114	heart disease		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:myocardium	PMID:16630453|REF_RGD_ID:2317959
12074278	THBS1	thrombospondin 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25381014
12074278	THBS1	thrombospondin 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1615939	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12074278	THBS1	thrombospondin 1	gene	DOID:1324	lung cancer		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074278	THBS1	thrombospondin 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:16757110|REF_RGD_ID:2325023
12074278	THBS1	thrombospondin 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD		DNA:hypermethylation (human)	PMID:10766168|REF_RGD_ID:2325028
12074278	THBS1	thrombospondin 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:20203415|REF_RGD_ID:2325021
12074278	THBS1	thrombospondin 1	gene	DOID:1909	melanoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074278	THBS1	thrombospondin 1	gene	DOID:3275	thymoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074278	THBS1	thrombospondin 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter (human)	PMID:19065635|REF_RGD_ID:2325022
12074278	THBS1	thrombospondin 1	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:12429967|REF_RGD_ID:2325025
12074278	THBS1	thrombospondin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345942	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074278	THBS1	thrombospondin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074278	THBS1	thrombospondin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:16465407|REF_RGD_ID:2325024
12074278	THBS1	thrombospondin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD		DNA:hypermethylation (human)	PMID:12213730|REF_RGD_ID:2325026
12074278	THBS1	thrombospondin 1	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:11927969|REF_RGD_ID:2325027
12074278	THBS1	thrombospondin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074278	THBS1	thrombospondin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18407596
12074278	THBS1	thrombospondin 1	gene	DOID:5419	schizophrenia		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12074278	THBS1	thrombospondin 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1345942	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12074278	THBS1	thrombospondin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074278	THBS1	thrombospondin 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:16179730|REF_RGD_ID:2317960
12074278	THBS1	thrombospondin 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12074278	THBS1	thrombospondin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17117553
12074278	THBS1	thrombospondin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17117553|REF_RGD_ID:2317943
12074278	THBS1	thrombospondin 1	gene	DOID:9000011	Gallbladder Neoplasms	disease_progression	ISO	RGD:1345942	D	RGD:9068941	20200609	RGD			PMID:10427124|REF_RGD_ID:2325029
12074278	THBS1	thrombospondin 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:19719963|REF_RGD_ID:2317939
12074278	THBS1	thrombospondin 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16005714
12074278	THBS1	thrombospondin 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1615939	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17878288|REF_RGD_ID:2317941
12074278	THBS1	thrombospondin 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD			PMID:20136391|REF_RGD_ID:2317938
12074278	THBS1	thrombospondin 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
12074278	THBS1	thrombospondin 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345942	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12074278	THBS1	thrombospondin 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:15459484|REF_RGD_ID:1626167
12074278	THBS1	thrombospondin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD			PMID:17640965|REF_RGD_ID:2317942
12074278	THBS1	thrombospondin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074278	THBS1	thrombospondin 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345942	D	RGD:9068941	20230128	CTD		CTD Direct Evidence: marker/mechanism	PMID:35357534
12074278	THBS1	thrombospondin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1588455	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:16179730|REF_RGD_ID:2317960
12074278	THBS1	thrombospondin 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9309585
12074278	THBS1	thrombospondin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074278	THBS1	thrombospondin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074278	THBS1	thrombospondin 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345942	D	RGD:9068941	20250724	RGD		protein:increased expression:serum	PMID:31502404|REF_RGD_ID:153344612
12074278	THBS1	thrombospondin 1	gene	DOID:9970	obesity		ISO	RGD:1345942	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mononuclear cell, adipose tissue:	PMID:24086512|REF_RGD_ID:9681453
12074304	RAB7B	RAB7B, member RAS oncogene family	gene	DOID:11476	osteoporosis		ISO	RGD:1346465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12074304	RAB7B	RAB7B, member RAS oncogene family	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1346465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0060249	scoliosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:7240710	20190911	OMIM			
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:0081232	autosomal recessive intellectual developmental disorder 71		ISO	RGD:1602194	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKBH8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 71 | ClinVar Annotator: match by term: intellectual developmental disorder, autosomal recessive 71	PMID:25741868|PMID:28492532
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1602194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:4667	kyphosis		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9001510	Funnel Chest		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1602194	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1602194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868
12074325	ALKBH8	alkB homolog 8, tRNA methyltransferase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602194	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:732989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28067908
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome		ISO	RGD:732989	D	RGD:7240710	20180130	OMIM			
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0070615	autoinflammation, antibody deficiency, and immune dysregulation syndrome		ISO	RGD:732989	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation syndrome | ClinVar Annotator: match by term: Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated | ClinVar Annotator: match by term: PLCG2-related disorder	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:32894242|PMID:33936634|PMID:37769878|PMID:9536098
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0090064	familial cold autoinflammatory syndrome 3		ISO	RGD:732989	D	RGD:7240710	20180130	OMIM			
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0090064	familial cold autoinflammatory syndrome 3		ISO	RGD:732989	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3 | ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27542411|PMID:27577878|PMID:28166811|PMID:28492532|PMID:29590070|PMID:29921932|PMID:30273710|PMID:30344948|PMID:31853824|PMID:32047491|PMID:32185379|PMID:32671674|PMID:32853466|PMID:32894242|PMID:33859323|PMID:33936634|PMID:34329649|PMID:35753512|PMID:36113963|PMID:36166305|PMID:37094224|PMID:37714437|PMID:37769878|PMID:38790019|PMID:39369972|PMID:9536098
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28714976
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:11830	myopia		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:1210	optic neuritis		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuritis	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:1389	polyneuropathy		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:1596	depressive disorder		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:2841	asthma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma | ClinVar Annotator: match by term: asthma	PMID:25741868|PMID:28492532|PMID:29590070|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:4362	cervical cancer		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:630	genetic disease		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37769878
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma	PMID:25741868|PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:732989	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:27542411
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9008173	Paraparesis		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paraparesis	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		ISO	RGD:732989	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | ClinVar Annotator: match by term: Cryopyrin associated periodic syndrome	PMID:16199547|PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29921932|PMID:30619256
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074347	PLCG2	phospholipase C gamma 2	gene	DOID:9970	obesity		ISO	RGD:732989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:32894242|PMID:33936634
12074392	KIF21B	kinesin family member 21B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343896	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
12074392	KIF21B	kinesin family member 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:10534	stomach cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074392	KIF21B	kinesin family member 21B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074392	KIF21B	kinesin family member 21B	gene	DOID:1115	sarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:1324	lung cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074392	KIF21B	kinesin family member 21B	gene	DOID:2316	brain ischemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:25741868
12074392	KIF21B	kinesin family member 21B	gene	DOID:2843	long QT syndrome		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12074392	KIF21B	kinesin family member 21B	gene	DOID:3070	high grade glioma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12074392	KIF21B	kinesin family member 21B	gene	DOID:3275	thymoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074392	KIF21B	kinesin family member 21B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074392	KIF21B	kinesin family member 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:8577	ulcerative colitis		ISO	RGD:1343896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
12074392	KIF21B	kinesin family member 21B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12074392	KIF21B	kinesin family member 21B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KIF21B-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32415109
12074392	KIF21B	kinesin family member 21B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12074392	KIF21B	kinesin family member 21B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074392	KIF21B	kinesin family member 21B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1604818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1604818	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1604818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12074437	DTL	denticleless E3 ubiquitin protein ligase homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:7240710	20180130	OMIM			
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:0111266	geroderma osteodysplasticum		ISO	RGD:1603372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GERODERMA OSTEODYSPLASTICUM | ClinVar Annotator: match by term: GORAB-related condition | ClinVar Annotator: match by term: Geroderma osteodysplastica | ClinVar Annotator: match by term: Geroderma osteodysplasticum | ClinVar Annotator: match by term: Walt Disney dwarfism | ClinVar Annotator: match by term: geroderma osteodysplastica	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865|PMID:31829210
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:11476	osteoporosis		ISO	RGD:1603372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:3144	cutis laxa		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:630	genetic disease		ISO	RGD:1603372	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18997784|PMID:19681135|PMID:25741868|PMID:28492532|PMID:28807865
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1603372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18997784
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12074464	GORAB	golgin, RAB6 interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:1909	melanoma		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:2513	basal cell carcinoma		ISO	RGD:734407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074503	PPP6C	protein phosphatase 6 catalytic subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:1909	melanoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1315374	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs944990	PMID:25953783|REF_RGD_ID:11055817
12074525	FAM120A	family with sequence similarity 120 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074547	STRN4	striatin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074547	STRN4	striatin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074547	STRN4	striatin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074547	STRN4	striatin 4	gene	DOID:1115	sarcoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074547	STRN4	striatin 4	gene	DOID:1324	lung cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074547	STRN4	striatin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074547	STRN4	striatin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074547	STRN4	striatin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074547	STRN4	striatin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074584	PLB1	phospholipase B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074584	PLB1	phospholipase B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074584	PLB1	phospholipase B1	gene	DOID:10283	prostate cancer		ISO	RGD:1346755	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12074584	PLB1	phospholipase B1	gene	DOID:10283	prostate cancer		ISO	RGD:1346755	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12074584	PLB1	phospholipase B1	gene	DOID:10534	stomach cancer		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074584	PLB1	phospholipase B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074584	PLB1	phospholipase B1	gene	DOID:1115	sarcoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074584	PLB1	phospholipase B1	gene	DOID:1324	lung cancer		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074584	PLB1	phospholipase B1	gene	DOID:1909	melanoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074584	PLB1	phospholipase B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12074584	PLB1	phospholipase B1	gene	DOID:4362	cervical cancer		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074584	PLB1	phospholipase B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346755	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074584	PLB1	phospholipase B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074584	PLB1	phospholipase B1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074584	PLB1	phospholipase B1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346755	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24520335
12074584	PLB1	phospholipase B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074584	PLB1	phospholipase B1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346755	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12074650	LEFTY1	left-right determination factor 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1558349	D	RGD:9068941	20230921	RGD			PMID:33409963|REF_RGD_ID:401794430
12074650	LEFTY1	left-right determination factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1350904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12074650	LEFTY1	left-right determination factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074650	LEFTY1	left-right determination factor 1	gene	DOID:9004303	Tubulointerstitial Fibrosis	ameliorates	ISO	RGD:1558349	D	RGD:9068941	20230921	RGD			PMID:32065356|REF_RGD_ID:401824679
12074657	CNFN	cornifelin	gene	DOID:1324	lung cancer		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12074657	CNFN	cornifelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074657	CNFN	cornifelin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:10534	stomach cancer		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:1115	sarcoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:1324	lung cancer		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:3070	high grade glioma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074674	LOC100855640	butyrophilin subfamily 2 member A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074688	MIR340	microRNA mir-340	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1352110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12074688	MIR340	microRNA mir-340	gene	DOID:1909	melanoma		ISO	RGD:1352110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25043973
12074688	MIR340	microRNA mir-340	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352110	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver	PMID:27998770|REF_RGD_ID:18936991
12074688	MIR340	microRNA mir-340	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12074688	MIR340	microRNA mir-340	gene	DOID:9002221	Hyperplasia		ISO	RGD:1352110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:1115	sarcoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:1324	lung cancer		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:1909	melanoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:3275	thymoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354235	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074823	FNDC3A	fibronectin type III domain containing 3A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:4362	cervical cancer		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:5041	esophageal cancer		ISO	RGD:1315091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074878	GPR63	G protein-coupled receptor 63	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20220825	RGD		protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855623|PMID:3287162
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:3287162|REF_RGD_ID:734639
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050873	follicular lymphoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:translocation: ;t(14;18)(q32;q21)	PMID:16671111|REF_RGD_ID:1599473
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26239085|PMID:3287162
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:12628841|REF_RGD_ID:2289659
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27255231|PMID:29324390|REF_RGD_ID:13792502|REF_RGD_ID:13792598
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:0111142	oligomeganephronia		ISO	RGD:10230	D	RGD:9068941	20220825	MouseDO			
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10283	prostate cancer		ISO	RGD:733100	D	RGD:9068941	20201023	RGD			PMID:16984224|PMID:18084610|REF_RGD_ID:2292512|REF_RGD_ID:2293015
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17850375|REF_RGD_ID:2293017
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:733100	D	RGD:9068941	20210611	RGD		human cells in mouse model	PMID:29408335|REF_RGD_ID:127284846
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:16265626|PMID:17639989|REF_RGD_ID:10054047|REF_RGD_ID:2293073
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18077176
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex, membrane	PMID:9507158|REF_RGD_ID:10053642
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21585051|PMID:26897372|PMID:29587274|PMID:29777699|REF_RGD_ID:10054049|REF_RGD_ID:11522767|REF_RGD_ID:13782186|REF_RGD_ID:13782188
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10763	hypertension		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10075388
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10763	hypertension	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20065158|REF_RGD_ID:10053702
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24378970|REF_RGD_ID:10053695
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:10941	intracranial aneurysm	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:25316629|REF_RGD_ID:11522723
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18094410|REF_RGD_ID:2293014
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733100	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18342927|REF_RGD_ID:2292910
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22648569|REF_RGD_ID:10054093
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:21062263|REF_RGD_ID:10054496
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21062263
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:cardiomyocyte	PMID:25820375|REF_RGD_ID:13792650
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:25209900|REF_RGD_ID:11558015
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:12336	male infertility		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24723216
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:127	leiomyoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:16962107|REF_RGD_ID:1643479
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:127	leiomyoma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23789224|REF_RGD_ID:10054112
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:12849	autistic disorder		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11814262|PMID:20375269
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:12858	Huntington's disease		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:11299004|REF_RGD_ID:10054041
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26004897|REF_RGD_ID:13782348
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1307	dementia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21473886|REF_RGD_ID:10054040
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27131981|REF_RGD_ID:13792503
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:14227	azoospermia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20610805
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:29020630|PMID:35101336|PMID:37475138
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1686	glaucoma		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:optic nerve, retina	PMID:24357921|REF_RGD_ID:10054098
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1749	squamous cell carcinoma	disease_progression	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		Protein:increased expression:tongue;associated with mouth neoplasms	PMID:16309543|REF_RGD_ID:1599477
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1790	malignant mesothelioma		ISO	RGD:733100	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:16850164
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1824	status epilepticus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:18076646|REF_RGD_ID:2293065
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1824	status epilepticus	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22842798|REF_RGD_ID:11522734
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1875	impotence		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:12394778|REF_RGD_ID:1579980
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1875	impotence		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12394778
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1875	impotence	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1909	melanoma	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:lymph node (human)	PMID:8783649|REF_RGD_ID:11526106
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:1936	atherosclerosis		ISO	RGD:2199	D	RGD:9068941	20230615	RGD		associated with type 2 diabetes mellitus; mRNA, protein:increased expression:thoracic aorta (rat)	PMID:33889291|REF_RGD_ID:329849122
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23381833|REF_RGD_ID:10054113
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:219	colon cancer	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21214291|REF_RGD_ID:10053668
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:18083315|REF_RGD_ID:2290557
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2199	D	RGD:9068941	20250130	RGD		protein:increased expression:hippocampus:	PMID:26607632|REF_RGD_ID:597538583
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20260801	RGD			PMID:16732092|REF_RGD_ID:11522725
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17954590
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:15585409|REF_RGD_ID:11522731
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:733100	D	RGD:9068941	20210528	RGD		human cells in mouse model	PMID:32504672|REF_RGD_ID:125097526
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24906198|REF_RGD_ID:10054248
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18047955|REF_RGD_ID:1643477
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet (rat)	PMID:26459859|REF_RGD_ID:11522763
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2773	contact dermatitis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:2841	asthma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18357729
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:289	endometriosis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17693084|REF_RGD_ID:2293018
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:289	endometriosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23406865|PMID:25937801|REF_RGD_ID:11353846|REF_RGD_ID:7257718
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:299	adenocarcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3021	acute kidney failure		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20037173|REF_RGD_ID:10053672
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:305	carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10426811
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3070	high grade glioma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:10582606|REF_RGD_ID:13506907
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23143152|REF_RGD_ID:10054501
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:3721	plasmacytoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:14695177|REF_RGD_ID:11526108
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18283311|REF_RGD_ID:2298896
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17482919|REF_RGD_ID:2293019
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4468	clear cell adenocarcinoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9754764
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4481	allergic rhinitis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal mucosa (rat)	PMID:15362690|REF_RGD_ID:11522724
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4545	mesenchymal chondrosarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12817616
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:12234300|REF_RGD_ID:1579984
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:4914	esophagus adenocarcinoma	onset	ISO	RGD:733100	D	RGD:9068941	20210521	RGD		DNA:SNPs:3'utr: (rs720321, rs17757541) (human)	PMID:21472143|REF_RGD_ID:126925218
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:5295	intestinal disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24228095|REF_RGD_ID:10058972
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2279115(human)	PMID:26311051|REF_RGD_ID:13673911
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:5485	synovial sarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16450387
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23471820
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:5844	myocardial infarction		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027736
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18097624|PMID:29746994|REF_RGD_ID:10054097|REF_RGD_ID:13792577
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart right ventricle	PMID:18441466|REF_RGD_ID:2293022
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:657	adenoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192|PMID:10426811
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10230	D	RGD:9068941	20210702	RGD		mRNA:increased expression:liver (mouse)	PMID:28100771|REF_RGD_ID:127285675
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2199	D	RGD:9068941	20220714	RGD			PMID:33841550|REF_RGD_ID:152998960
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20424483|REF_RGD_ID:11522730
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:19217321|REF_RGD_ID:10053643
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:chondrocyte	PMID:16864079|REF_RGD_ID:10054095
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:24166353|REF_RGD_ID:11522757
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8692941
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:10704489|REF_RGD_ID:8554863
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8927	learning disability		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967740
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:18561741|REF_RGD_ID:2298889
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16904648
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:27256506|REF_RGD_ID:13792677
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:lymph node	PMID:18217456|REF_RGD_ID:2293013
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2199	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472143
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000156	Metaplasia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12704018
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000288	Chronic Intermittent Hypoxia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26769958|REF_RGD_ID:13792505
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000310	Lung Injury	disease_progression	ISO	RGD:2199	D	RGD:9068941	20241031	RGD		associated with Intestinal Reperfusion Injury	PMID:17786556|REF_RGD_ID:408346753
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000918	Disease Progression		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686|PMID:21750559
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:16826579|REF_RGD_ID:2293020
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell	PMID:12810203|REF_RGD_ID:2293021
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000998	Brain Injuries		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18093155|REF_RGD_ID:2293059
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20888848|REF_RGD_ID:10054247
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001390	Testis Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:26754107|REF_RGD_ID:11555349
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:17938867|REF_RGD_ID:2293129
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:24218972|REF_RGD_ID:10054116
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10426811|PMID:28100771
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine	PMID:17693937|REF_RGD_ID:2293072
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:25535961|REF_RGD_ID:11522737
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230525	RGD			PMID:34144219|REF_RGD_ID:329812011
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21092002|REF_RGD_ID:5134995
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Non-alcoholic Fatty Liver Disease	PMID:22847887|REF_RGD_ID:10053710
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21750559|PMID:23770605
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	no_association	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:17959858|REF_RGD_ID:11526105
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:16960146|REF_RGD_ID:11526104
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:B cell (human)	PMID:20001236|REF_RGD_ID:11526110
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	treatment	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:17296974|REF_RGD_ID:11522735
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22932950|REF_RGD_ID:10054114
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:29713367|REF_RGD_ID:13792581
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:18317887|REF_RGD_ID:2291908
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16733517
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002331	Knee Osteoarthritis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:20131282|REF_RGD_ID:6907382
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002395	Hypothermia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland ventral lobe (rat)	PMID:25996932|REF_RGD_ID:10402397
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:21199477|REF_RGD_ID:10054249
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22978269|REF_RGD_ID:10054498
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002644	Premature Aging	treatment	ISO	RGD:10230	D	RGD:9068941	20200609	RGD			PMID:21359432|REF_RGD_ID:6480478
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12721362
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18006758|REF_RGD_ID:2298897
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230525	RGD			PMID:35445044|REF_RGD_ID:329812014
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:17404573|REF_RGD_ID:2293078
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10223192|PMID:17404573|PMID:19147571
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11146106|PMID:17967740
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20230128	RGD			PMID:21189961|PMID:24089674|PMID:29635023|REF_RGD_ID:10054502|REF_RGD_ID:13782292|REF_RGD_ID:155882465
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15449323
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9004038	Kashin-Beck Disease		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:articular cartilage, chondrocyte	PMID:16511931|REF_RGD_ID:10054094
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2199	D	RGD:9068941	20241010	RGD			PMID:31828147|REF_RGD_ID:35316072
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:20663300|REF_RGD_ID:10054109
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20260409	RGD		associated with burns	PMID:22360954|PMID:22455798|REF_RGD_ID:645122548|REF_RGD_ID:645122549
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005181	Multi-Infarct Dementia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18938189|REF_RGD_ID:10054050
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22668016|PMID:23404339|REF_RGD_ID:10053670|REF_RGD_ID:10054128
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005562	AIDS-Related Kaposi Sarcoma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10861090
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:embryo	PMID:15649569|REF_RGD_ID:1599491
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18991018|REF_RGD_ID:2311240
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959961|PMID:23090186
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005749	Necrosis		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11781163|PMID:16532269
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:12167434|REF_RGD_ID:8547871
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9005930	Endotoxemia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:diaphragm	PMID:23940949|REF_RGD_ID:10054120
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18566236
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:18221257|REF_RGD_ID:2293026
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:29285062|REF_RGD_ID:13792599
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2199	D	RGD:9068941	20250313	RGD			PMID:33574912|REF_RGD_ID:597830178
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23953793|REF_RGD_ID:10054119
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:733100	D	RGD:9068941	20201218	RGD		protein:increased expression:natural killer cell, T cell (human)	PMID:26541527|REF_RGD_ID:40902860
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:10230	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased phosphorylation:myocardium (mouse)	PMID:21474815|REF_RGD_ID:11522727
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21296063|REF_RGD_ID:10053697
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22014268|REF_RGD_ID:10054500
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007174	Ventricular Remodeling	ameliorates	ISO	RGD:10230	D	RGD:9068941	20230406	RGD		associated with myocardial infarction	PMID:25726944|REF_RGD_ID:11252030
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007429	Soft Tissue Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16450387
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22666341|PMID:2543982|PMID:2848196
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD			PMID:18386458|REF_RGD_ID:2298890
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007730	Burns	treatment	ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:22153006|REF_RGD_ID:10054126
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:16289365|REF_RGD_ID:1599484
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2199	D	RGD:9068941	20220923	RGD			PMID:20821058|PMID:23364609|PMID:31583047|REF_RGD_ID:10053674|REF_RGD_ID:11561911|REF_RGD_ID:155230831
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008023	Memory Disorders		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967740
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:optic nerve, retina	PMID:24357921|REF_RGD_ID:10054098
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949393
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute Necrotizing;protein:decreased expression:adrenal cortex	PMID:21161352|REF_RGD_ID:6482719
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008824	Sarcopenia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:plantaris	PMID:17029665|REF_RGD_ID:2325745
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12517783|PMID:16954440|PMID:23621182
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733100	D	RGD:9068941	20200609	RGD		associated with Papillomavirus Infections;protein:increased expression:breast	PMID:18427947|REF_RGD_ID:2292909
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-938C>A	PMID:17908970|REF_RGD_ID:2293016
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:18430249|REF_RGD_ID:2292908
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.+21A>G (rs1801018) (human)	PMID:19520430|REF_RGD_ID:11526111
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		ratio with Flt3, Kit;mRNA:decreased expression:mononuclear cell (human)	PMID:25216797|REF_RGD_ID:11526109
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-938C>A (human)	PMID:25957891|REF_RGD_ID:11526107
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelium of nasopharynx (human)	PMID:12099337|REF_RGD_ID:11526103
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9286	priapism		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:erectile tissue (rat)	PMID:21085184|REF_RGD_ID:10412315
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2199	D	RGD:9068941	20200609	RGD			PMID:23032698|REF_RGD_ID:10053698
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959961|PMID:31626838
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9538	multiple myeloma		ISO	RGD:733100	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12429644
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:12167434|REF_RGD_ID:8547871
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:733100	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow (human)	PMID:25982455|REF_RGD_ID:11076595
12074886	BCL2	BCL2 apoptosis regulator	gene	DOID:9970	obesity		ISO	RGD:2199	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart left ventricle	PMID:18202171|REF_RGD_ID:2293027
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12074893	VPS36	vacuolar protein sorting 36 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1314216	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1314216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17049657
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12074928	LATS2	large tumor suppressor kinase 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1314216	D	RGD:9068941	20220728	RGD		Human cells in mouse model	PMID:32682784|REF_RGD_ID:153297782
12074939	KCNJ13	potassium inwardly rectifying channel subfamily J member 13	gene	DOID:0110118	Leber congenital amaurosis 16		ISO	RGD:734216	D	RGD:7240710	20180130	OMIM			
12074939	KCNJ13	potassium inwardly rectifying channel subfamily J member 13	gene	DOID:0111570	snowflake vitreoretinal degeneration		ISO	RGD:734216	D	RGD:7240710	20180130	OMIM			
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:14506246|PMID:1692038|PMID:18523805|PMID:19800078|PMID:21938826|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:0070309	absence epilepsy		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:732202	D	RGD:7240710	20180130	OMIM			
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACADS-related condition | ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase | ClinVar Annotator: match by term: SCAD DEFICIENCY | ClinVar Annotator: match by term: SCAD Deficiency | ClinVar Annotator: match by term: short chain acyl-CoA dehydrogenase deficiency	PMID:11134486|PMID:12736383|PMID:12872838|PMID:14506246|PMID:14568186|PMID:14595061|PMID:16199547|PMID:16906473|PMID:1692038|PMID:16926354|PMID:17576681|PMID:18054510|PMID:18523805|PMID:18676165|PMID:18836889|PMID:18951053|PMID:19800078|PMID:20376488|PMID:21170680|PMID:21325261|PMID:21483766|PMID:21500142|PMID:21938826|PMID:22241096|PMID:22424739|PMID:23155713|PMID:23798014|PMID:24033266|PMID:24485985|PMID:25741868|PMID:26274329|PMID:27051597|PMID:27466294|PMID:27938594|PMID:28018444|PMID:2808706|PMID:28263315|PMID:28374236|PMID:28454995|PMID:28492532|PMID:28532786|PMID:29519241|PMID:29678161|PMID:30035407|PMID:30612563|PMID:30626930|PMID:31620161|PMID:31813752|PMID:31847883|PMID:31980526|PMID:32447334|PMID:32710939|PMID:32778825|PMID:32793418|PMID:32802992|PMID:33391346|PMID:33895855|PMID:34394177|PMID:34869113|PMID:35095998|PMID:35193651|PMID:36207829|PMID:38061323|PMID:38187300|PMID:38784038|PMID:39449356|PMID:9499414|PMID:9536098|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732202	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:18523805|PMID:25741868|PMID:28492532
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:732202	D	RGD:9068941	20240229	RGD		DNA:SNP:: (rs1799958) (human)	PMID:20554694|REF_RGD_ID:401976551
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:1596	depressive disorder		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:1826	epilepsy		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:1969	cerebral palsy		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:2030	anxiety disorder		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:3275	thymoma		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:6000	congestive heart failure		ISO	RGD:732202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30827304
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:630	genetic disease		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14506246|PMID:1692038|PMID:18523805|PMID:19800078|PMID:21938826|PMID:22241096|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9003507	Premature Birth		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9003760	Myalgia		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27051597|PMID:27938594|PMID:28492532|PMID:32710939|PMID:33895855
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732202	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19800078|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532|PMID:32710939|PMID:32778825
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732202	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:14506246|PMID:1692038|PMID:18523805|PMID:25741868|PMID:28454995|PMID:28492532|PMID:9582344
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732202	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:18523805|PMID:25741868|PMID:28492532
12074954	ACADS	acyl-CoA dehydrogenase short chain	gene	DOID:936	brain disease		ISO	RGD:732202	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19800078|PMID:21938826|PMID:25741868|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:0060894	early-onset Parkinson's disease		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Young-onset Parkinson disease	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:69491	D	RGD:7240710	20180130	OMIM			
12074966	SYNJ1	synaptojanin 1	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:69491	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset Parkinson disease 20 | ClinVar Annotator: match by term: PARKINSON DISEASE 20, EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 20, early-onset	PMID:16199547|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27869329|PMID:28421333|PMID:28492532|PMID:31440721|PMID:31592138|PMID:32613234|PMID:33515856|PMID:37750340|PMID:39455605
12074966	SYNJ1	synaptojanin 1	gene	DOID:0080464	developmental and epileptic encephalopathy 53		ISO	RGD:69491	D	RGD:7240710	20190315	OMIM			
12074966	SYNJ1	synaptojanin 1	gene	DOID:0080464	developmental and epileptic encephalopathy 53		ISO	RGD:69491	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 53 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 53	PMID:16199547|PMID:17576681|PMID:23804563|PMID:23804577|PMID:24609975|PMID:24816432|PMID:25316601|PMID:25741868|PMID:26467025|PMID:27393345|PMID:27435091|PMID:27496670|PMID:27869329|PMID:28135719|PMID:28421333|PMID:28492532|PMID:31440721|PMID:31592138|PMID:32214227|PMID:32613234|PMID:32707456|PMID:33515856|PMID:34720994|PMID:35861376|PMID:37750340|PMID:39455605|PMID:39669259|PMID:9536098
12074966	SYNJ1	synaptojanin 1	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:69491	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1 | ClinVar Annotator: match by term: X-Linked Infantile Spasm Syndrome	PMID:25316601|PMID:25741868|PMID:27435091|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:10534	stomach cancer		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12074966	SYNJ1	synaptojanin 1	gene	DOID:1115	sarcoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12074966	SYNJ1	synaptojanin 1	gene	DOID:1324	lung cancer		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12074966	SYNJ1	synaptojanin 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:69491	D	RGD:9068941	20200609	RGD			PMID:25639775|REF_RGD_ID:10450521
12074966	SYNJ1	synaptojanin 1	gene	DOID:1596	depressive disorder		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:1826	epilepsy		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:1909	melanoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12074966	SYNJ1	synaptojanin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:69491	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12074966	SYNJ1	synaptojanin 1	gene	DOID:2841	asthma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:3275	thymoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12074966	SYNJ1	synaptojanin 1	gene	DOID:4362	cervical cancer		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:69491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12074966	SYNJ1	synaptojanin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:630	genetic disease		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:27393345|PMID:28421333|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9000495	Tremor		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9001722	Dysarthria		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9001733	Tinnitus		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9003126	Hallucinations		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9003507	Premature Birth		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9004866	Ataxia		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:23804563|PMID:23804577|PMID:24816432|PMID:25741868|PMID:27869329|PMID:28492532
12074966	SYNJ1	synaptojanin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12074966	SYNJ1	synaptojanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12074966	SYNJ1	synaptojanin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:0060058	lymphoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:0070790	congenital nonprogressive movement disorder with ataxia and eye movement abnormalities		ISO	RGD:1349366	D	RGD:7240710	20260805	OMIM			
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:0070790	congenital nonprogressive movement disorder with ataxia and eye movement abnormalities		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MOVEMENT DISORDER, CONGENITAL NONPROGRESSIVE, WITH ATAXIA AND EYE MOVEMENT ABNORMALITIES	PMID:25741868|PMID:41265421|PMID:41265451
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:480	movement disease		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1349366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1349366	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35220427
12075025	ESRRG	estrogen related receptor gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075072	NIT1	nitrilase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075072	NIT1	nitrilase 1	gene	DOID:0061234	brain small vessel disease 4		ISO	RGD:1349751	D	RGD:7240710	20250903	OMIM			
12075072	NIT1	nitrilase 1	gene	DOID:0061234	brain small vessel disease 4		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE 4	
12075072	NIT1	nitrilase 1	gene	DOID:1324	lung cancer		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075072	NIT1	nitrilase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12075072	NIT1	nitrilase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075072	NIT1	nitrilase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319273	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:10283	prostate cancer		ISO	RGD:1319273	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:3275	thymoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075087	PYCR3	pyrroline-5-carboxylate reductase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075096	BNIPL	BCL2 interacting protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075096	BNIPL	BCL2 interacting protein like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075096	BNIPL	BCL2 interacting protein like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075096	BNIPL	BCL2 interacting protein like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12075096	BNIPL	BCL2 interacting protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075110	CARNS1	carnosine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075110	CARNS1	carnosine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075110	CARNS1	carnosine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075110	CARNS1	carnosine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2301770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:3275	thymoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9001733	Tinnitus		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9002554	Tachycardia		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9007736	Vertigo		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075134	DENND2B	DENN domain containing 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:10534	stomach cancer		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:1115	sarcoma		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:4990	essential tremor		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:5041	esophageal cancer		ISO	RGD:1313284	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075173	PLA2G3	phospholipase A2 group III	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:15148335|REF_RGD_ID:11049166
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell:	PMID:7513372|REF_RGD_ID:11049453
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050523	adult T-cell leukemia/lymphoma	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: -670 G>A(human)	PMID:17962369|REF_RGD_ID:11049147
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:villous trophoblast	PMID:12700199|REF_RGD_ID:12904022
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473|PMID:10920071|PMID:17943461
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:bone marrow:	PMID:9557605|REF_RGD_ID:11049447
12075184	FAS	Fas cell surface death receptor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell:	PMID:15686130|REF_RGD_ID:11049448
12075184	FAS	Fas cell surface death receptor	gene	DOID:0051064	left ventricular failure		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11809923
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with gastric adenocarcinoma	PMID:29588340|REF_RGD_ID:13792594
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29324390|REF_RGD_ID:13792598
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060704	lymphoproliferative syndrome	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:deletions	PMID:7539157|REF_RGD_ID:1600310
12075184	FAS	Fas cell surface death receptor	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte:	PMID:26429926|REF_RGD_ID:14700711
12075184	FAS	Fas cell surface death receptor	gene	DOID:0080162	lupus nephritis		ISO	RGD:1346266	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:33632240|PMID:38555047
12075184	FAS	Fas cell surface death receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23127599
12075184	FAS	Fas cell surface death receptor	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:insertion, deletions:cds:multiple (human)	PMID:12466128|REF_RGD_ID:8662407
12075184	FAS	Fas cell surface death receptor	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:9404931|REF_RGD_ID:11049160
12075184	FAS	Fas cell surface death receptor	gene	DOID:10223	dermatomyositis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9182923|REF_RGD_ID:8662437
12075184	FAS	Fas cell surface death receptor	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:17667965|REF_RGD_ID:2290050
12075184	FAS	Fas cell surface death receptor	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:18237448|REF_RGD_ID:2289639
12075184	FAS	Fas cell surface death receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075184	FAS	Fas cell surface death receptor	gene	DOID:1059	intellectual disability		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-670A>G (human)	PMID:15695771|REF_RGD_ID:12903973
12075184	FAS	Fas cell surface death receptor	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-670A>G(rs1800682)(human)	PMID:30066360|REF_RGD_ID:14700669
12075184	FAS	Fas cell surface death receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-670G>A (human)	PMID:11129341|REF_RGD_ID:1358615
12075184	FAS	Fas cell surface death receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, plaque (human)	PMID:12742739|REF_RGD_ID:8663481
12075184	FAS	Fas cell surface death receptor	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29339218|REF_RGD_ID:13792597
12075184	FAS	Fas cell surface death receptor	gene	DOID:10952	nephritis		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26590112
12075184	FAS	Fas cell surface death receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9070496
12075184	FAS	Fas cell surface death receptor	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-1377G>A,-670A>G	PMID:16538171|REF_RGD_ID:2290063
12075184	FAS	Fas cell surface death receptor	gene	DOID:11252	microcytic anemia		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:12506060|REF_RGD_ID:8662416
12075184	FAS	Fas cell surface death receptor	gene	DOID:11383	cryptorchidism		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29606031|REF_RGD_ID:13792609
12075184	FAS	Fas cell surface death receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29970988|REF_RGD_ID:13792563
12075184	FAS	Fas cell surface death receptor	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:15803113|REF_RGD_ID:2315753
12075184	FAS	Fas cell surface death receptor	gene	DOID:11759	hypochromic anemia		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte:	PMID:26429926|REF_RGD_ID:14700711
12075184	FAS	Fas cell surface death receptor	gene	DOID:12336	male infertility		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:testis (rat)	PMID:23441449|REF_RGD_ID:8663476
12075184	FAS	Fas cell surface death receptor	gene	DOID:12337	varicocele		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:decreased expression:Leydig cell, spermatid	PMID:16616089|REF_RGD_ID:1600348
12075184	FAS	Fas cell surface death receptor	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12075184	FAS	Fas cell surface death receptor	gene	DOID:12361	Graves' disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:thyroid gland, thyrocyte (human)	PMID:11422195|REF_RGD_ID:8662820
12075184	FAS	Fas cell surface death receptor	gene	DOID:12449	aplastic anemia		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:11876982|REF_RGD_ID:11049449
12075184	FAS	Fas cell surface death receptor	gene	DOID:12449	aplastic anemia		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:CD34+ bone marrow cell	PMID:7577642|REF_RGD_ID:11049159
12075184	FAS	Fas cell surface death receptor	gene	DOID:1272	telangiectasis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:12858	Huntington's disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:putamen,caudate:	PMID:11054182|REF_RGD_ID:12903948
12075184	FAS	Fas cell surface death receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9890678|REF_RGD_ID:8662410
12075184	FAS	Fas cell surface death receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:9870874|REF_RGD_ID:8662451
12075184	FAS	Fas cell surface death receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		protein:decreased expression:lacrimal gland, lymphocyte (mouse)	PMID:11157873|REF_RGD_ID:8662436
12075184	FAS	Fas cell surface death receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1552455	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12075184	FAS	Fas cell surface death receptor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17943461
12075184	FAS	Fas cell surface death receptor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:cardiocyte	PMID:16761189|REF_RGD_ID:1600334
12075184	FAS	Fas cell surface death receptor	gene	DOID:13133	HELLP syndrome		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein,mRNA:altered expression:placenta, liver:	PMID:28501275|REF_RGD_ID:14700673
12075184	FAS	Fas cell surface death receptor	gene	DOID:13133	HELLP syndrome	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-670A>G(rs1800682)(human)	PMID:30066360|REF_RGD_ID:14700669
12075184	FAS	Fas cell surface death receptor	gene	DOID:13241	Behcet's disease	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9836498|REF_RGD_ID:8662438
12075184	FAS	Fas cell surface death receptor	gene	DOID:13767	clonorchiasis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:18427836|REF_RGD_ID:2315733
12075184	FAS	Fas cell surface death receptor	gene	DOID:13767	clonorchiasis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:18427836|REF_RGD_ID:2315733
12075184	FAS	Fas cell surface death receptor	gene	DOID:14067	Plasmodium falciparum malaria		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625619
12075184	FAS	Fas cell surface death receptor	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:30172001|REF_RGD_ID:13792561
12075184	FAS	Fas cell surface death receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:neurones of the substantia nigra pars:	PMID:11054182|REF_RGD_ID:12903948
12075184	FAS	Fas cell surface death receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19118384|PMID:35101336
12075184	FAS	Fas cell surface death receptor	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:18685642|REF_RGD_ID:12903971
12075184	FAS	Fas cell surface death receptor	gene	DOID:1577	limited scleroderma		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:17102953|REF_RGD_ID:12903974
12075184	FAS	Fas cell surface death receptor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-1377G>A	PMID:17183065|REF_RGD_ID:2290054
12075184	FAS	Fas cell surface death receptor	gene	DOID:1657	ventricular septal defect		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:1686	glaucoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:optic nerve head, axon (human)	PMID:19043361|REF_RGD_ID:8662440
12075184	FAS	Fas cell surface death receptor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC	
12075184	FAS	Fas cell surface death receptor	gene	DOID:1909	melanoma		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075184	FAS	Fas cell surface death receptor	gene	DOID:1909	melanoma	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-1377A>G,-670A>G(human)	PMID:16538172|REF_RGD_ID:12903985
12075184	FAS	Fas cell surface death receptor	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1552455	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
12075184	FAS	Fas cell surface death receptor	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:29213335|REF_RGD_ID:13792600
12075184	FAS	Fas cell surface death receptor	gene	DOID:2043	hepatitis B		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:12526294|REF_RGD_ID:14700675
12075184	FAS	Fas cell surface death receptor	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte:	PMID:26429926|REF_RGD_ID:14700711
12075184	FAS	Fas cell surface death receptor	gene	DOID:2048	autoimmune hepatitis	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:28551553|REF_RGD_ID:14700710
12075184	FAS	Fas cell surface death receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:10972965|REF_RGD_ID:8662928
12075184	FAS	Fas cell surface death receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:18410517|REF_RGD_ID:2311437
12075184	FAS	Fas cell surface death receptor	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:18981705|REF_RGD_ID:8686422
12075184	FAS	Fas cell surface death receptor	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:619831	D	RGD:9068941	20220728	RGD		protein:increased expression:brain (rat)	PMID:30301943|REF_RGD_ID:153297779
12075184	FAS	Fas cell surface death receptor	gene	DOID:2316	brain ischemia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:16796407|REF_RGD_ID:1600333
12075184	FAS	Fas cell surface death receptor	gene	DOID:2355	anemia		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:white matter of brain:	PMID:8879222|REF_RGD_ID:12903947
12075184	FAS	Fas cell surface death receptor	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-670A>G (human)	PMID:12098516|REF_RGD_ID:12903986
12075184	FAS	Fas cell surface death receptor	gene	DOID:2378	relapsing-remitting multiple sclerosis	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:735T>C(human)	PMID:15218339|REF_RGD_ID:12903953
12075184	FAS	Fas cell surface death receptor	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, peritoneal fluid, T cell	PMID:17565840|REF_RGD_ID:2290084
12075184	FAS	Fas cell surface death receptor	gene	DOID:2475	chronic conjunctivitis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctival epithelial cell (human)	PMID:9990333|REF_RGD_ID:8662412
12075184	FAS	Fas cell surface death receptor	gene	DOID:2529	splenic disease		ISO	RGD:1346266	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:38555047
12075184	FAS	Fas cell surface death receptor	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:12470426|REF_RGD_ID:2290077
12075184	FAS	Fas cell surface death receptor	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:16091761|REF_RGD_ID:2290075
12075184	FAS	Fas cell surface death receptor	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:16541433|REF_RGD_ID:2290058
12075184	FAS	Fas cell surface death receptor	gene	DOID:2841	asthma		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:eosinophil	PMID:16337971|REF_RGD_ID:1600350
12075184	FAS	Fas cell surface death receptor	gene	DOID:2921	glomerulonephritis		ISO	RGD:1346266	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:21880982|PMID:36999444
12075184	FAS	Fas cell surface death receptor	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:9466307|REF_RGD_ID:8686428
12075184	FAS	Fas cell surface death receptor	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29844269|REF_RGD_ID:13792576
12075184	FAS	Fas cell surface death receptor	gene	DOID:3021	acute kidney failure		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:renal tubule (rat)	PMID:21374789|REF_RGD_ID:8663469
12075184	FAS	Fas cell surface death receptor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:3070	high grade glioma	severity	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		mouse gene in a rat model	PMID:11440439|REF_RGD_ID:8663460
12075184	FAS	Fas cell surface death receptor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29208459|REF_RGD_ID:13792601
12075184	FAS	Fas cell surface death receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:341	peripheral vascular disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma	PMID:17075777|REF_RGD_ID:2315707
12075184	FAS	Fas cell surface death receptor	gene	DOID:3429	inclusion body myositis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:muscle	PMID:9450780|REF_RGD_ID:12903959
12075184	FAS	Fas cell surface death receptor	gene	DOID:3459	breast carcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:15792116|REF_RGD_ID:2290130
12075184	FAS	Fas cell surface death receptor	gene	DOID:3492	mixed connective tissue disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9182923|REF_RGD_ID:8662437
12075184	FAS	Fas cell surface death receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12075184	FAS	Fas cell surface death receptor	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1346266	D	RGD:9068941	20220310	RGD		mRNA:decreased expression:lung (human)	PMID:29254206|REF_RGD_ID:151665107
12075184	FAS	Fas cell surface death receptor	gene	DOID:409	liver disease	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:29852394|REF_RGD_ID:13792574
12075184	FAS	Fas cell surface death receptor	gene	DOID:417	autoimmune disease		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22536412|PMID:2545777|PMID:26590112
12075184	FAS	Fas cell surface death receptor	gene	DOID:437	myasthenia gravis		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15169653
12075184	FAS	Fas cell surface death receptor	gene	DOID:437	myasthenia gravis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, T lymphocyte (human)	PMID:23043710|REF_RGD_ID:8662430
12075184	FAS	Fas cell surface death receptor	gene	DOID:4440	seminoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:testis	PMID:17916181|REF_RGD_ID:2290049
12075184	FAS	Fas cell surface death receptor	gene	DOID:4448	macular degeneration	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:choroid, epithelioid cell (human)	PMID:9488273|REF_RGD_ID:8662418
12075184	FAS	Fas cell surface death receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:17031406|REF_RGD_ID:2290099
12075184	FAS	Fas cell surface death receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon	PMID:12460460|REF_RGD_ID:2290131
12075184	FAS	Fas cell surface death receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:10654915|REF_RGD_ID:2290133
12075184	FAS	Fas cell surface death receptor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:11435457|REF_RGD_ID:2290132
12075184	FAS	Fas cell surface death receptor	gene	DOID:4692	endophthalmitis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:retinal ganglion cell, bipolar cell of retina, photoreceptor (rat)	PMID:19039600|REF_RGD_ID:8662445
12075184	FAS	Fas cell surface death receptor	gene	DOID:4752	multiple system atrophy		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:precentral gyrus (human)	PMID:23372841|REF_RGD_ID:8663486
12075184	FAS	Fas cell surface death receptor	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Barrett Esophagus;protein:increased expression:esophageal mucosa (human)	PMID:10340890|REF_RGD_ID:8662425
12075184	FAS	Fas cell surface death receptor	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:11003620|REF_RGD_ID:14700701
12075184	FAS	Fas cell surface death receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075184	FAS	Fas cell surface death receptor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:10200468|REF_RGD_ID:11049451
12075184	FAS	Fas cell surface death receptor	gene	DOID:5327	retinal detachment		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:15557468|REF_RGD_ID:1600357
12075184	FAS	Fas cell surface death receptor	gene	DOID:5327	retinal detachment	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:17923548|REF_RGD_ID:8662409
12075184	FAS	Fas cell surface death receptor	gene	DOID:557	kidney disease		ISO	RGD:1346266	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:38555047
12075184	FAS	Fas cell surface death receptor	gene	DOID:576	proteinuria		ISO	RGD:1346266	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:26590112|PMID:33632240|PMID:36999444
12075184	FAS	Fas cell surface death receptor	gene	DOID:583	hemolytic anemia		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868
12075184	FAS	Fas cell surface death receptor	gene	DOID:6000	congestive heart failure		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA:splice variant:heart left ventricle (human)	PMID:9367848|REF_RGD_ID:8686420
12075184	FAS	Fas cell surface death receptor	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29746994|REF_RGD_ID:13792577
12075184	FAS	Fas cell surface death receptor	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1346266	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:630	genetic disease		ISO	RGD:1346266	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21490157|PMID:25741868|PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:6376	hypersplenism		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15877736
12075184	FAS	Fas cell surface death receptor	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:1346266	D	RGD:7240710	20180130	OMIM			
12075184	FAS	Fas cell surface death receptor	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:1346266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome	PMID:10090885|PMID:10515860|PMID:10575548|PMID:10875918|PMID:1090885|PMID:12657942|PMID:15350189|PMID:15459303|PMID:15870181|PMID:16199547|PMID:16537120|PMID:17336828|PMID:17576681|PMID:17999750|PMID:18223337|PMID:18948840|PMID:20301287|PMID:20682655|PMID:20935634|PMID:21183795|PMID:21233219|PMID:2149015|PMID:21490157|PMID:21858107|PMID:22237435|PMID:22752343|PMID:22983577|PMID:22983578|PMID:23407489|PMID:24033266|PMID:24728327|PMID:25502423|PMID:25741868|PMID:26563159|PMID:26690594|PMID:26942442|PMID:27153395|PMID:27789675|PMID:28087326|PMID:28492532|PMID:28668589|PMID:30311386|PMID:31402412|PMID:32441320|PMID:32499645|PMID:33816397|PMID:33992756|PMID:34171534|PMID:34573280|PMID:35059842|PMID:35753512|PMID:35967554|PMID:38954121|PMID:7540117|PMID:9028321|PMID:9028957|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496
12075184	FAS	Fas cell surface death receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:11274632|REF_RGD_ID:14700677
12075184	FAS	Fas cell surface death receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29634416|REF_RGD_ID:13792608
12075184	FAS	Fas cell surface death receptor	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:30737368|REF_RGD_ID:14700700
12075184	FAS	Fas cell surface death receptor	gene	DOID:687	hepatoblastoma		ISO	RGD:1346266	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:20875116|REF_RGD_ID:12903969
12075184	FAS	Fas cell surface death receptor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:12148596|REF_RGD_ID:8662455
12075184	FAS	Fas cell surface death receptor	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-670A>G (human)	PMID:23053964|REF_RGD_ID:8662433
12075184	FAS	Fas cell surface death receptor	gene	DOID:74	hematopoietic system disease		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15877736
12075184	FAS	Fas cell surface death receptor	gene	DOID:768	retinoblastoma	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor (human)	PMID:14533029|REF_RGD_ID:8662811
12075184	FAS	Fas cell surface death receptor	gene	DOID:83	cataract		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:848	arthritis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:promoter: -670 G>A, -1377 G>A (human)	PMID:26563376|REF_RGD_ID:11049146
12075184	FAS	Fas cell surface death receptor	gene	DOID:8568	infectious mononucleosis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte, neutrophil, serum:	PMID:11185989|REF_RGD_ID:11049152
12075184	FAS	Fas cell surface death receptor	gene	DOID:8577	ulcerative colitis	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:30122878|REF_RGD_ID:13792562
12075184	FAS	Fas cell surface death receptor	gene	DOID:865	vasculitis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10776692|REF_RGD_ID:11049162
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:17703359|PMID:29738767|REF_RGD_ID:13792580|REF_RGD_ID:2290176
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:cervical spinal cord	PMID:17518537|REF_RGD_ID:2290177
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000081	Lymphatic Metastasis	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms;DNA:polymorphism:promoter:-1377G>A	PMID:18068525|REF_RGD_ID:2298509
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:22368862|REF_RGD_ID:10054108
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:esophageal mucosa:	PMID:9605741|REF_RGD_ID:11049151
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000310	Lung Injury	disease_progression	ISO	RGD:619831	D	RGD:9068941	20241031	RGD		associated with Intestinal Reperfusion Injury	PMID:17786556|REF_RGD_ID:408346753
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis (rat)	PMID:9927315|REF_RGD_ID:8662886
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000918	Disease Progression		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11594583
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:decreased expression:breast	PMID:17352235|REF_RGD_ID:2290053
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms;protein:decreased expression:lung	PMID:17918178|REF_RGD_ID:2290048
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000996	Chest Trauma		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:decreased expression:alveolar macrophage (rat)	PMID:21330946|REF_RGD_ID:8663480
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000998	Brain Injuries		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		associated with Hyperoxia	PMID:19107989|REF_RGD_ID:8662854
12075184	FAS	Fas cell surface death receptor	gene	DOID:9000998	Brain Injuries		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:16078565|REF_RGD_ID:1600354
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:decreased expression:nasal polyp (human)	PMID:15283292|REF_RGD_ID:8662435
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord:	PMID:21490053|REF_RGD_ID:12904017
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:16202410|REF_RGD_ID:8663485
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001553	Spinal Cord Compression	treatment	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:16689665|REF_RGD_ID:1582444
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30737368
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:17105443|REF_RGD_ID:2290284
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30737368
12075184	FAS	Fas cell surface death receptor	gene	DOID:9001661	Taste Disorders		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22536412
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:17235585|REF_RGD_ID:2290283
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16222447|REF_RGD_ID:1600351
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:18561025|REF_RGD_ID:14700680
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:kidney	PMID:17851466|REF_RGD_ID:2315705
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:18287563|REF_RGD_ID:2312739
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:renal distal tubule (rat)	PMID:12861046|REF_RGD_ID:8686421
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:12901972|REF_RGD_ID:11049461
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with protein:increased expression:serum:	PMID:16169656|REF_RGD_ID:12904025
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002231	Fetal Growth Retardation	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human)	PMID:15695771|REF_RGD_ID:12903973
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29713367|REF_RGD_ID:13792581
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:18265979|REF_RGD_ID:2290046
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1346266	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34713381
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002395	Hypothermia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with Ischemic Attack, Transient; protein:decreased expression:brain (rat)	PMID:18410517|REF_RGD_ID:2311437
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002569	Overweight		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002720	Splenomegaly		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:17102953|REF_RGD_ID:12903974
12075184	FAS	Fas cell surface death receptor	gene	DOID:9002928	Colonic Neoplasms	resistance	ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:15796164|REF_RGD_ID:1600355
12075184	FAS	Fas cell surface death receptor	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:21843499|REF_RGD_ID:9587791
12075184	FAS	Fas cell surface death receptor	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:12148596|REF_RGD_ID:8662455
12075184	FAS	Fas cell surface death receptor	gene	DOID:9003867	Lymphomatoid Papulosis		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11594583
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29568770|REF_RGD_ID:13792595
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004038	Kashin-Beck Disease		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:articular cartilage, chondrocyte	PMID:16511931|REF_RGD_ID:10054094
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004484	Sepsis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:17899301|REF_RGD_ID:2290175
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12828076
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:28060213|REF_RGD_ID:14700678
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:hepatocyte:	PMID:10950056|REF_RGD_ID:14700697
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver:	PMID:25601293|REF_RGD_ID:14700667
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:25601293|REF_RGD_ID:14700667
12075184	FAS	Fas cell surface death receptor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11778176
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005077	Joint Instability		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005144	Autoimmune Lymphoproliferative Syndrome, Type IA		ISO	RGD:1346266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA	PMID:10090885|PMID:10515860|PMID:15459303|PMID:17576681|PMID:18223337|PMID:20935634|PMID:21490157|PMID:22237435|PMID:23407489|PMID:28492532|PMID:7540117|PMID:9533447|PMID:9536098|PMID:9821419|PMID:9927496
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:18094967|REF_RGD_ID:2290047
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus, neuron; associated with diabetes mellitus, insulin-dependent	PMID:15777748|REF_RGD_ID:1600356
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:heart ventricle	PMID:19820199|REF_RGD_ID:2314021
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005643	Experimental Diabetes Mellitus	onset	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:20004692|REF_RGD_ID:2315698
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005647	Experimental Autoimmune Uveitis	susceptibility	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:11067900|REF_RGD_ID:8662852
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005749	Necrosis		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15664267
12075184	FAS	Fas cell surface death receptor	gene	DOID:9005930	Endotoxemia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spleen (rat)	PMID:20428798|REF_RGD_ID:8662930
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22536412|PMID:26590112
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:29285062|REF_RGD_ID:13792599
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006411	Testicular Injury		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis (rat)	PMID:9112408|REF_RGD_ID:8662900
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:619831	D	RGD:9068941	20231005	RGD		mRNA:increased expression:liver (rat)	PMID:11934685|REF_RGD_ID:628329
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus, renal interstitium, renal tubule	PMID:16152783|REF_RGD_ID:1600352
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006890	Chronic Uveitis	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human)	PMID:8814751|REF_RGD_ID:8662442
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:1346266	D	RGD:9068941	20201218	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:26541527|REF_RGD_ID:40902860
12075184	FAS	Fas cell surface death receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007090	Experimental Seizures		ISO	RGD:619831	D	RGD:9068941	20241114	RGD		mRNA, protein:increased expression:hippocampus (rat)	PMID:11435933|REF_RGD_ID:8662911
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007355	Hashimoto Disease	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, CD8-Positive T-Lymphocytes (human)	PMID:15242568|REF_RGD_ID:8662824
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:16831245|REF_RGD_ID:8662853
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007480	Hyperoxia		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:thalamus, cerebral cortex (rat)	PMID:19107989|REF_RGD_ID:8662854
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007480	Hyperoxia	susceptibility	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:19107989|REF_RGD_ID:8662854
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD		protein:increased expression:Kupffer cell:	PMID:15797225|REF_RGD_ID:14700708
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007558	Acute Experimental Pancreatitis	severity	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:15797225|REF_RGD_ID:14700708
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD		associated with hypothalamic disease	PMID:29522769|REF_RGD_ID:13792596
12075184	FAS	Fas cell surface death receptor	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:619831	D	RGD:9068941	20200609	RGD			PMID:21316771|REF_RGD_ID:8686424
12075184	FAS	Fas cell surface death receptor	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mandibular condyle, cartilage (rat)	PMID:23934157|REF_RGD_ID:8663479
12075184	FAS	Fas cell surface death receptor	gene	DOID:9008614	Cardiovascular Pregnancy Complications		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
12075184	FAS	Fas cell surface death receptor	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:30737368|REF_RGD_ID:14700700
12075184	FAS	Fas cell surface death receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12075184	FAS	Fas cell surface death receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:T lymphocyte:	PMID:7531628|REF_RGD_ID:11049450
12075184	FAS	Fas cell surface death receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9182923|REF_RGD_ID:8662437
12075184	FAS	Fas cell surface death receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1346266	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:36999444
12075184	FAS	Fas cell surface death receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1552455	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12075184	FAS	Fas cell surface death receptor	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:snps:promoter:g.-1377G>A, g.-670A>G (human)	PMID:23053964|REF_RGD_ID:8662433
12075184	FAS	Fas cell surface death receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7579353
12075184	FAS	Fas cell surface death receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:8870373|REF_RGD_ID:11049452
12075184	FAS	Fas cell surface death receptor	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		DNA:polymorphism, haplotype:promoter:-1377 G>A, -670 G>A (human)	PMID:12907599|REF_RGD_ID:11049150
12075184	FAS	Fas cell surface death receptor	gene	DOID:9206	Barrett's esophagus	severity	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:10821489|REF_RGD_ID:12903968
12075184	FAS	Fas cell surface death receptor	gene	DOID:9282	ocular hypertension		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:retina, microglial cell	PMID:17045251|REF_RGD_ID:1600312
12075184	FAS	Fas cell surface death receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12075184	FAS	Fas cell surface death receptor	gene	DOID:9500	leukocyte disease		ISO	RGD:1346266	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:38555047
12075184	FAS	Fas cell surface death receptor	gene	DOID:9663	aphthous stomatitis		ISO	RGD:1346266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphthous stomatitis	PMID:18948840|PMID:21490157|PMID:25741868|PMID:27789675|PMID:28492532|PMID:32499645
12075184	FAS	Fas cell surface death receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:insulin-secreting cells	PMID:19120316|REF_RGD_ID:2315742
12075184	FAS	Fas cell surface death receptor	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1552455	D	RGD:9068941	20200609	RGD			PMID:9254659|REF_RGD_ID:2315754
12075184	FAS	Fas cell surface death receptor	gene	DOID:9849	Meniere's disease		ISO	RGD:1346266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868|PMID:28492532|PMID:30311386
12075184	FAS	Fas cell surface death receptor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346266	D	RGD:9068941	20200609	RGD		protein:increased expression:CD34+ bone marrow cell	PMID:9711907|REF_RGD_ID:11049157
12075184	FAS	Fas cell surface death receptor	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:1346266	D	RGD:9068941	20200609	RGD			PMID:10500800|REF_RGD_ID:11049148
12075184	FAS	Fas cell surface death receptor	gene	DOID:9976	heroin dependence		ISO	RGD:619831	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:14530904|REF_RGD_ID:8686423
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:1115	sarcoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:3275	thymoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313741	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1313741	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075198	SH3TC1	SH3 domain and tetratricopeptide repeats 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037199
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0051061	stroke		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20847317
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29753072
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10603	glucose intolerance		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19934007
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10603	glucose intolerance		ISO	RGD:730889	D	RGD:9068941	20200609	RGD			PMID:12511592|REF_RGD_ID:1302556
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:10779	septic myocarditis	treatment	ISO	RGD:730889	D	RGD:9068941	20201008	RGD			PMID:27621180|REF_RGD_ID:39456138
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:14069	cerebral malaria		ISO	RGD:730889	D	RGD:9068941	20201008	RGD		mRNA:decreased expression:brain (mouse)	PMID:29107705|REF_RGD_ID:39456137
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002189	High Myopia		ISO	RGD:730888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:620893	D	RGD:9068941	20230713	RGD		protein:decreased expression:serum, heart (rat)	PMID:30644033|REF_RGD_ID:329955369
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730888	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: therapeutic	PMID:40010574
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:620893	D	RGD:9068941	20230713	RGD		protein:decreased expression:serum, heart (rat)	PMID:30644033|REF_RGD_ID:329955369
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18812163
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620893	D	RGD:9068941	20231026	RGD			PMID:32535406|REF_RGD_ID:401850547
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:730889	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19934007
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:730888	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16567511|REF_RGD_ID:1625266
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620893	D	RGD:9068941	20231221	RGD			PMID:20501665|REF_RGD_ID:10003160
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075233	PRKAA2	protein kinase AMP-activated catalytic subunit alpha 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730888	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16567511|REF_RGD_ID:1625266
12075246	CDH16	cadherin 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075246	CDH16	cadherin 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075246	CDH16	cadherin 16	gene	DOID:1781	thyroid cancer		ISO	RGD:1323200	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:Thyroid	PMID:22028439|REF_RGD_ID:13792552
12075246	CDH16	cadherin 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075246	CDH16	cadherin 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:10534	stomach cancer		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:1115	sarcoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:1909	melanoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:3275	thymoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1343283	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075272	ARHGAP17	Rho GTPase activating protein 17	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:628767	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:0081469	autosomal dominant intellectual developmental disorder 77		ISO	RGD:1349743	D	RGD:7240710	20260805	OMIM			
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:0081469	autosomal dominant intellectual developmental disorder 77		ISO	RGD:1349743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 77 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 77	PMID:25741868|PMID:39256359
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:1059	intellectual disability		ISO	RGD:1349743	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:39256359
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:1909	melanoma		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349743	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:39256359
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:9008675	Dyskinesias		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:9970	obesity		ISO	RGD:1349743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:39256359
12075296	LRRC7	leucine rich repeat containing 7	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1349743	D	RGD:9068941	20231102	RGD		DNA:SNP: (rs1938584) (human)	PMID:18438686|REF_RGD_ID:401851917
12075342	RBFA	ribosome binding factor A	gene	DOID:1115	sarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075342	RBFA	ribosome binding factor A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12075342	RBFA	ribosome binding factor A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075342	RBFA	ribosome binding factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1323615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075342	RBFA	ribosome binding factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075342	RBFA	ribosome binding factor A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075342	RBFA	ribosome binding factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:1115	sarcoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075355	LOC607207	myosin regulatory light polypeptide 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1606574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:22832583|PMID:27993330|PMID:31574483|PMID:34852214
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821|PMID:31574483|PMID:34852214
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075366	CTDNEP1	CTD nuclear envelope phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736216	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:289	endometriosis		ISO	RGD:736216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815356
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:3008	invasive ductal carcinoma	severity	ISO	RGD:736216	D	RGD:9068941	20200609	RGD		protein:decreased expression:ductal breast carcinoma (human)	PMID:10682658|REF_RGD_ID:4890946
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:736216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17507624
12075378	HSD17B1	hydroxysteroid 17-beta dehydrogenase 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12075392	SH3D21	SH3 domain containing 21	gene	DOID:10534	stomach cancer		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075392	SH3D21	SH3 domain containing 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12075392	SH3D21	SH3 domain containing 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1605948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075392	SH3D21	SH3 domain containing 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075392	SH3D21	SH3 domain containing 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075392	SH3D21	SH3 domain containing 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075441	EXOSC2	exosome component 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12075441	EXOSC2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:7240710	20190315	OMIM			
12075441	EXOSC2	exosome component 2	gene	DOID:0081175	short stature, hearing loss, retinitis pigmentosa, and distinctive facies		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXOSC2-related condition | ClinVar Annotator: match by term: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES | ClinVar Annotator: match by term: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	PMID:14647208|PMID:15060126|PMID:24447024|PMID:25741868|PMID:26843489|PMID:28492532|PMID:31628467|PMID:34162742
12075441	EXOSC2	exosome component 2	gene	DOID:1324	lung cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12075441	EXOSC2	exosome component 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12075441	EXOSC2	exosome component 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075441	EXOSC2	exosome component 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075441	EXOSC2	exosome component 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075441	EXOSC2	exosome component 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315266	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12075441	EXOSC2	exosome component 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12075441	EXOSC2	exosome component 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075454	EHD4	EH domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075454	EHD4	EH domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075454	EHD4	EH domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075454	EHD4	EH domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075454	EHD4	EH domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075454	EHD4	EH domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075465	SRGN	serglycin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075465	SRGN	serglycin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12075473	LOC610578	up-regulator of cell proliferation	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075475	ARGLU1	arginine and glutamate rich 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075475	ARGLU1	arginine and glutamate rich 1	gene	DOID:1324	lung cancer		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075475	ARGLU1	arginine and glutamate rich 1	gene	DOID:3275	thymoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075475	ARGLU1	arginine and glutamate rich 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12075475	ARGLU1	arginine and glutamate rich 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075484	SEPTIN6	septin 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075484	SEPTIN6	septin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075484	SEPTIN6	septin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075484	SEPTIN6	septin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075484	SEPTIN6	septin 6	gene	DOID:1909	melanoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075484	SEPTIN6	septin 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12075484	SEPTIN6	septin 6	gene	DOID:3070	high grade glioma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12075484	SEPTIN6	septin 6	gene	DOID:3275	thymoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075484	SEPTIN6	septin 6	gene	DOID:4362	cervical cancer		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075484	SEPTIN6	septin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1316585	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075484	SEPTIN6	septin 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12075484	SEPTIN6	septin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075484	SEPTIN6	septin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075484	SEPTIN6	septin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075484	SEPTIN6	septin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:7240710	20180130	OMIM			
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:0111263	combined malonic and methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACSF3-related disorder | ClinVar Annotator: match by term: COMBINED MALONIC AND METHYLMALONIC ACIDURIA | ClinVar Annotator: match by term: Combined malonic and methylmalonic acidemia | ClinVar Annotator: match by term: Combined malonic and methylmalonic aciduria	PMID:16199547|PMID:17576681|PMID:21785126|PMID:21841779|PMID:22421630|PMID:25640679|PMID:25741868|PMID:26827111|PMID:26915364|PMID:28492532|PMID:28924877|PMID:29144512|PMID:29555771|PMID:29858964|PMID:30041674|PMID:30487145|PMID:30609409|PMID:30642647|PMID:30740739|PMID:31376476|PMID:31462756|PMID:31589614|PMID:31980526|PMID:32327331|PMID:32980267|PMID:33003980|PMID:33223529|PMID:33625768|PMID:34900860|PMID:36413997|PMID:36608682|PMID:36717752|PMID:36978159|PMID:38536866|PMID:39581258|PMID:9030548|PMID:9536098
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Isolated Methylmalonic Acidemia | ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:26827111|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30041674|PMID:30740739|PMID:31376476|PMID:33003980|PMID:36608682|PMID:39581258|PMID:9030548
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:3275	thymoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:630	genetic disease		ISO	RGD:1604214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21785126|PMID:21841779|PMID:22421630|PMID:25741868|PMID:28492532|PMID:29144512|PMID:29858964|PMID:30740739|PMID:31376476|PMID:33003980|PMID:36608682|PMID:39581258|PMID:9030548
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:9005126	Malonic Aciduria		ISO	RGD:1604214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21841779
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:28492532
12075513	ACSF3	acyl-CoA synthetase family member 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0070741	cerebellar atrophy with seizures and variable developmental delay		ISO	RGD:737609	D	RGD:7240710	20190814	OMIM			
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0070741	cerebellar atrophy with seizures and variable developmental delay		ISO	RGD:737609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CACNA2D2-related disorder | ClinVar Annotator: match by term: CEREBELLAR ATROPHY WITH SEIZURES AND VARIABLE DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Cerebellar atrophy with seizures and variable developmental delay	PMID:17576681|PMID:24358150|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30410802|PMID:31402629|PMID:9536098
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0080600	COVID-19		ISO	RGD:737609	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:24358150|PMID:25741868|PMID:28492532|PMID:9536098
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:12859	choreatic disease		ISO	RGD:737609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14660671
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:737609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14660671
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:1826	epilepsy		ISO	RGD:737609	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:1826	epilepsy		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:737609	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:3275	thymoma		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:630	genetic disease		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:631360	D	RGD:9068941	20200609	RGD			PMID:28469787|REF_RGD_ID:13513983
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9003507	Premature Birth		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:737609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27798183
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9004866	Ataxia		ISO	RGD:737609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14660671
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:631360	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:28469787|REF_RGD_ID:13513983
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737609	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:28469787|REF_RGD_ID:13513983
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9007456	Female Infertility		ISO	RGD:737609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14660671
12075551	CACNA2D2	calcium voltage-gated channel auxiliary subunit alpha2delta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075593	NKX6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:7240710	20190315	OMIM			
12075593	NKX6-2	NK6 homeobox 2	gene	DOID:0080252	spastic ataxia 8		ISO	RGD:1316381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NKX6-2-related condition | ClinVar Annotator: match by term: SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY | ClinVar Annotator: match by term: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	PMID:25741868|PMID:28492532|PMID:28969374|PMID:29388673|PMID:31509304|PMID:32004679|PMID:34490615
12075593	NKX6-2	NK6 homeobox 2	gene	DOID:630	genetic disease		ISO	RGD:1316381	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:0110080	Leber congenital amaurosis 12		ISO	RGD:1603852	D	RGD:7240710	20210114	OMIM			
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:0110080	Leber congenital amaurosis 12		ISO	RGD:1603852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 12 | ClinVar Annotator: match by term: Leber congenital amaurosis 12 | ClinVar Annotator: match by term: RD3-related condition	PMID:17186464|PMID:17576681|PMID:20301475|PMID:21928830|PMID:23301801|PMID:23308101|PMID:25741868|PMID:27422788|PMID:28492532|PMID:29068479|PMID:31964843|PMID:32083505|PMID:32531858|PMID:34426522|PMID:36460718|PMID:9536098
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:0110080	Leber congenital amaurosis 12	treatment	ISO	RGD:1614303	D	RGD:9068941	20210122	RGD			PMID:23740938|REF_RGD_ID:11560490
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1603852	D	RGD:9068941	20260604	RGD		DNA:mutations::	PMID:22531706|REF_RGD_ID:11560485
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:630	genetic disease		ISO	RGD:1603852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:8466	retinal degeneration		ISO	RGD:1603852	D	RGD:9068941	20210122	RGD		DNA:mutations:splice junction,cds:	PMID:17186464|REF_RGD_ID:11560484
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:8466	retinal degeneration		ISO	RGD:1614303	D	RGD:9068941	20210122	RGD		DNA:nonsense mutation:cds:	PMID:17186464|REF_RGD_ID:11560484
12075616	RD3	RD3 regulator of GUCY2D	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:1909	melanoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:4362	cervical cancer		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075659	SART1	spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075682	LCN8	lipocalin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075682	LCN8	lipocalin 8	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1343207	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12075682	LCN8	lipocalin 8	gene	DOID:10534	stomach cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075682	LCN8	lipocalin 8	gene	DOID:1115	sarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075682	LCN8	lipocalin 8	gene	DOID:2394	ovarian cancer		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12075682	LCN8	lipocalin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075682	LCN8	lipocalin 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12075682	LCN8	lipocalin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:630	genetic disease		ISO	RGD:1603914	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075708	RAVER1	ribonucleoprotein, PTB binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075734	FHL2	four and a half LIM domains 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532
12075734	FHL2	four and a half LIM domains 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098
12075734	FHL2	four and a half LIM domains 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572|PMID:33932144|PMID:9536098
12075734	FHL2	four and a half LIM domains 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17416352|PMID:17576681|PMID:24033266|PMID:25358972|PMID:25741868|PMID:26627873|PMID:27854218|PMID:28492532|PMID:31333075|PMID:31568572|PMID:33932144|PMID:9536098
12075734	FHL2	four and a half LIM domains 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17416352|PMID:24033266|PMID:25741868|PMID:26627873|PMID:28492532|PMID:31333075|PMID:31568572
12075734	FHL2	four and a half LIM domains 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1350947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
12075734	FHL2	four and a half LIM domains 2	gene	DOID:3275	thymoma		ISO	RGD:1350947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075734	FHL2	four and a half LIM domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075734	FHL2	four and a half LIM domains 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12075734	FHL2	four and a half LIM domains 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1350947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25358972
12075734	FHL2	four and a half LIM domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075734	FHL2	four and a half LIM domains 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682292
12075734	FHL2	four and a half LIM domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12075753	CDC42EP3	CDC42 effector protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12075753	CDC42EP3	CDC42 effector protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075753	CDC42EP3	CDC42 effector protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075753	CDC42EP3	CDC42 effector protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075753	CDC42EP3	CDC42 effector protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12075763	DHX30	DExH-box helicase 30	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318916	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
12075763	DHX30	DExH-box helicase 30	gene	DOID:0070756	neurodevelopmental disorder with variable motor and speech impairment		ISO	RGD:1318916	D	RGD:7240710	20190315	OMIM			
12075763	DHX30	DExH-box helicase 30	gene	DOID:0070756	neurodevelopmental disorder with variable motor and speech impairment		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DHX30-related condition	PMID:25741868
12075763	DHX30	DExH-box helicase 30	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	
12075763	DHX30	DExH-box helicase 30	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12075763	DHX30	DExH-box helicase 30	gene	DOID:10534	stomach cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075763	DHX30	DExH-box helicase 30	gene	DOID:1059	intellectual disability		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:10907	microcephaly		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:10908	hydrocephalus		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12075763	DHX30	DExH-box helicase 30	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075763	DHX30	DExH-box helicase 30	gene	DOID:11782	astigmatism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12075763	DHX30	DExH-box helicase 30	gene	DOID:12849	autistic disorder		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:1826	epilepsy		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12075763	DHX30	DExH-box helicase 30	gene	DOID:1909	melanoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:3070	high grade glioma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12075763	DHX30	DExH-box helicase 30	gene	DOID:4362	cervical cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075763	DHX30	DExH-box helicase 30	gene	DOID:535	sleep disorder		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:28327206|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:540	strabismus		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:28327206|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:6039	uveal melanoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:630	genetic disease		ISO	RGD:1318916	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29100085|PMID:34020708
12075763	DHX30	DExH-box helicase 30	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075763	DHX30	DExH-box helicase 30	gene	DOID:8927	learning disability		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318916	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12075763	DHX30	DExH-box helicase 30	gene	DOID:9003133	Hypertelorism		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12075763	DHX30	DExH-box helicase 30	gene	DOID:9004507	Hirsutism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28327206|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12075763	DHX30	DExH-box helicase 30	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075763	DHX30	DExH-box helicase 30	gene	DOID:9007661	Dwarfism		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28327206|PMID:29100085
12075763	DHX30	DExH-box helicase 30	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318916	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28327206|PMID:29100085|PMID:32581362
12075763	DHX30	DExH-box helicase 30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075763	DHX30	DExH-box helicase 30	gene	DOID:9834	hyperopia		ISO	RGD:1318916	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12075802	TNS2	tensin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12075802	TNS2	tensin 2	gene	DOID:0060852	Pierson syndrome		ISO	RGD:1615728	D	RGD:9068941	20220825	MouseDO		OMIM:609049	
12075802	TNS2	tensin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075802	TNS2	tensin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:1115	sarcoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1322097	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28492532|PMID:29773874
12075802	TNS2	tensin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075802	TNS2	tensin 2	gene	DOID:1909	melanoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12075802	TNS2	tensin 2	gene	DOID:3275	thymoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075802	TNS2	tensin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075802	TNS2	tensin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12075802	TNS2	tensin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075802	TNS2	tensin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12075802	TNS2	tensin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1322097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12075833	IRX4	iroquois homeobox 4	gene	DOID:0060058	lymphoma		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12075833	IRX4	iroquois homeobox 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12075833	IRX4	iroquois homeobox 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12075833	IRX4	iroquois homeobox 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1319589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12075833	IRX4	iroquois homeobox 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1319589	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
12075833	IRX4	iroquois homeobox 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1319589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12075833	IRX4	iroquois homeobox 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319590	D	RGD:9068941	20200609	RGD			PMID:11238910|REF_RGD_ID:1582289
12075833	IRX4	iroquois homeobox 4	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1319589	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
12075842	C8B	complement C8 beta chain	gene	DOID:0060302	type II complement component 8 deficiency		ISO	RGD:1352674	D	RGD:7240710	20180130	OMIM			
12075842	C8B	complement C8 beta chain	gene	DOID:0060302	type II complement component 8 deficiency		ISO	RGD:1352674	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: C8B-related condition | ClinVar Annotator: match by term: Type II complement component 8 deficiency | ClinVar Annotator: match by term: type II complement component 8 deficiency	PMID:17576681|PMID:24033266|PMID:25741868|PMID:27183977|PMID:28192236|PMID:28492532|PMID:31440263|PMID:7594510|PMID:8098723|PMID:9536098
12075842	C8B	complement C8 beta chain	gene	DOID:1324	lung cancer		ISO	RGD:1352674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075842	C8B	complement C8 beta chain	gene	DOID:5844	myocardial infarction		ISO	RGD:2239	D	RGD:9068941	20200609	RGD			PMID:7515561|REF_RGD_ID:1600501
12075842	C8B	complement C8 beta chain	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1352674	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8098723
12075842	C8B	complement C8 beta chain	gene	DOID:630	genetic disease		ISO	RGD:1352674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12075842	C8B	complement C8 beta chain	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352674	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7980680
12075842	C8B	complement C8 beta chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075842	C8B	complement C8 beta chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075842	C8B	complement C8 beta chain	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:1352674	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8098723
12075842	C8B	complement C8 beta chain	gene	DOID:9471	meningitis		ISO	RGD:1352674	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8098723
12075858	CTCF	CCCTC-binding factor	gene	DOID:0050671	female breast cancer	disease_progression	ISO	RGD:733105	D	RGD:9068941	20220211	RGD		DNA:missense mutation, silent mutation:Q216H, S1455S, breast (human)	PMID:32435142|REF_RGD_ID:151356743
12075858	CTCF	CCCTC-binding factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
12075858	CTCF	CCCTC-binding factor	gene	DOID:0050902	medulloblastoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma, desmoplastic	PMID:24130125|PMID:27993330|PMID:37882064
12075858	CTCF	CCCTC-binding factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:733105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12075858	CTCF	CCCTC-binding factor	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:28135719|PMID:28619046
12075858	CTCF	CCCTC-binding factor	gene	DOID:0060826	syndromic X-linked intellectual disability Shashi type		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Shashi type	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	
12075858	CTCF	CCCTC-binding factor	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:0070051	autosomal dominant intellectual developmental disorder 21		ISO	RGD:733105	D	RGD:7240710	20180130	OMIM			
12075858	CTCF	CCCTC-binding factor	gene	DOID:0070051	autosomal dominant intellectual developmental disorder 21		ISO	RGD:733105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CTCF-Related Disorder | ClinVar Annotator: match by term: CTCF-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 21 | ClinVar Annotator: match by term: intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome	PMID:25741868|PMID:28492532|PMID:29076501|PMID:31239556|PMID:33004838|PMID:34657170|PMID:35982159|PMID:36454652|PMID:36672771|PMID:40118069
12075858	CTCF	CCCTC-binding factor	gene	DOID:0080144	childhood acute lymphocytic leukemia	disease_progression	ISO	RGD:733105	D	RGD:9068941	20220217	RGD		mRNA, protein:increased expression:bone marrow, blood (human)	PMID:24393203|REF_RGD_ID:151356757
12075858	CTCF	CCCTC-binding factor	gene	DOID:0080653	urolithiasis		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urolithiasis	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:733105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia in down syndrome	PMID:27993330
12075858	CTCF	CCCTC-binding factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:10534	stomach cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075858	CTCF	CCCTC-binding factor	gene	DOID:1059	intellectual disability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:23746550|PMID:25741868|PMID:28619046|PMID:30893510|PMID:31239556|PMID:33644862|PMID:34374989|PMID:36454652
12075858	CTCF	CCCTC-binding factor	gene	DOID:10907	microcephaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:10908	hydrocephalus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075858	CTCF	CCCTC-binding factor	gene	DOID:1143	exotropia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
12075858	CTCF	CCCTC-binding factor	gene	DOID:11782	astigmatism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12075858	CTCF	CCCTC-binding factor	gene	DOID:11830	myopia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12075858	CTCF	CCCTC-binding factor	gene	DOID:12270	coloboma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
12075858	CTCF	CCCTC-binding factor	gene	DOID:1324	lung cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12075858	CTCF	CCCTC-binding factor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12075858	CTCF	CCCTC-binding factor	gene	DOID:1612	breast cancer	severity	ISO	RGD:733105	D	RGD:9068941	20220217	RGD		protein:alternative form, increased expression:breast tumor (human)	PMID:19737964|REF_RGD_ID:151356756
12075858	CTCF	CCCTC-binding factor	gene	DOID:1826	epilepsy		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:1909	melanoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:31239556
12075858	CTCF	CCCTC-binding factor	gene	DOID:2030	anxiety disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12075858	CTCF	CCCTC-binding factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
12075858	CTCF	CCCTC-binding factor	gene	DOID:2841	asthma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
12075858	CTCF	CCCTC-binding factor	gene	DOID:3275	thymoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:3459	breast carcinoma		ISO	RGD:733105	D	RGD:9068941	20220217	RGD		protein:altered expression:breast tumor (human)	PMID:15354217|REF_RGD_ID:151356910
12075858	CTCF	CCCTC-binding factor	gene	DOID:3873	desmoplastic/nodular medulloblastoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma	PMID:24130125|PMID:27993330|PMID:37882064
12075858	CTCF	CCCTC-binding factor	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:24130125|PMID:27993330|PMID:37882064
12075858	CTCF	CCCTC-binding factor	gene	DOID:4362	cervical cancer		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075858	CTCF	CCCTC-binding factor	gene	DOID:4481	allergic rhinitis		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
12075858	CTCF	CCCTC-binding factor	gene	DOID:535	sleep disorder		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
12075858	CTCF	CCCTC-binding factor	gene	DOID:540	strabismus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:733105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
12075858	CTCF	CCCTC-binding factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:630	genetic disease		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:31239556|PMID:31785789|PMID:33004838|PMID:36454652
12075858	CTCF	CCCTC-binding factor	gene	DOID:630	genetic disease		ISO	RGD:733105	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18654629|PMID:19563753|PMID:22354838|PMID:23746550|PMID:25533962|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28529057|PMID:28619046|PMID:31239556|PMID:31785789|PMID:33004838|PMID:35982159|PMID:36454652|PMID:36672771
12075858	CTCF	CCCTC-binding factor	gene	DOID:674	cleft palate		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12075858	CTCF	CCCTC-binding factor	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12075858	CTCF	CCCTC-binding factor	gene	DOID:8923	skin melanoma		ISO	RGD:733105	D	RGD:9068941	20220210	RGD		DNA:mutations:multiple (human)	PMID:27974201|REF_RGD_ID:151356739
12075858	CTCF	CCCTC-binding factor	gene	DOID:8927	learning disability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9000343	Vision Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9001031	Retrognathia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9001581	Constipation		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:733105	D	RGD:9068941	20220217	RGD		human breast cancer cells in mouse model	PMID:21896759|REF_RGD_ID:151356745
12075858	CTCF	CCCTC-binding factor	gene	DOID:9002569	Overweight		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9003133	Hypertelorism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9003816	Macrocephaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9004147	Anosmia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9005077	Joint Instability		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9005616	Micrognathism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9007661	Dwarfism		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:733106	D	RGD:9068941	20220217	RGD			PMID:21896759|REF_RGD_ID:151356745
12075858	CTCF	CCCTC-binding factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12075858	CTCF	CCCTC-binding factor	gene	DOID:9834	hyperopia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9840	esotropia		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
12075858	CTCF	CCCTC-binding factor	gene	DOID:9970	obesity		ISO	RGD:733105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12075881	PRDM4	PR/SET domain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12075881	PRDM4	PR/SET domain 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12075881	PRDM4	PR/SET domain 4	gene	DOID:3070	high grade glioma		ISO	RGD:732265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12075881	PRDM4	PR/SET domain 4	gene	DOID:4362	cervical cancer		ISO	RGD:732265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12075881	PRDM4	PR/SET domain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075900	KHDRBS2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:1115	sarcoma		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075900	KHDRBS2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:1909	melanoma		ISO	RGD:1349535	D	RGD:9068941	20250820	CTD		CTD Direct Evidence: marker/mechanism	PMID:21499247
12075900	KHDRBS2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12075900	KHDRBS2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349535	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12075900	KHDRBS2	KH RNA binding domain containing, signal transduction associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075942	KHDC3L	KH domain containing 3 like, subcortical maternal complex member	gene	DOID:630	genetic disease		ISO	RGD:1604735	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12075942	KHDC3L	KH domain containing 3 like, subcortical maternal complex member	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12075942	KHDC3L	KH domain containing 3 like, subcortical maternal complex member	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:1604735	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hydatidiform mole	PMID:25741868
12075942	KHDC3L	KH domain containing 3 like, subcortical maternal complex member	gene	DOID:9006297	Hydatidiform Mole, Recurrent, 2		ISO	RGD:1604735	D	RGD:7240710	20180130	OMIM			
12075942	KHDC3L	KH domain containing 3 like, subcortical maternal complex member	gene	DOID:9006297	Hydatidiform Mole, Recurrent, 2		ISO	RGD:1604735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 2 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 2	PMID:21885028|PMID:23232697|PMID:24033266|PMID:25741868
12075953	UNC13D	unc-13 homolog D	gene	DOID:0110923	familial hemophagocytic lymphohistiocytosis 3		ISO	RGD:1604204	D	RGD:7240710	20180130	OMIM			
12075953	UNC13D	unc-13 homolog D	gene	DOID:0110923	familial hemophagocytic lymphohistiocytosis 3		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 3 | ClinVar Annotator: match by term: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 3 | ClinVar Annotator: match by term: UNC13D-related condition | ClinVar Annotator: match by term: familial hemophagocytic lymphohistiocytosis 3	PMID:10459864|PMID:14622600|PMID:15466010|PMID:15548590|PMID:16199547|PMID:16278825|PMID:16365863|PMID:16825436|PMID:17576681|PMID:17627755|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:19903216|PMID:20015888|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21182842|PMID:21248318|PMID:21370424|PMID:21600143|PMID:21653941|PMID:21674762|PMID:21755595|PMID:21881043|PMID:21931115|PMID:22508512|PMID:23180437|PMID:23264592|PMID:23560006|PMID:23669735|PMID:23672263|PMID:23774160|PMID:23840885|PMID:24033266|PMID:24043286|PMID:24459464|PMID:24470399|PMID:24825797|PMID:24842371|PMID:24916509|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:25901543|PMID:26419432|PMID:26684649|PMID:27123661|PMID:27164702|PMID:27209435|PMID:27535855|PMID:27781387|PMID:27872624|PMID:27896523|PMID:27914778|PMID:28353193|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28848550|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29409136|PMID:29415165|PMID:29549174|PMID:29665027|PMID:29783935|PMID:2978935|PMID:29864493|PMID:29930202|PMID:29977033|PMID:30220951|PMID:30899265|PMID:31388699|PMID:31664448|PMID:31681265|PMID:32135276|PMID:32222431|PMID:32245292|PMID:32327331|PMID:32375849|PMID:32542393|PMID:32638196|PMID:32888943|PMID:33365035|PMID:33658321|PMID:33746956|PMID:34106167|PMID:34170459|PMID:34185399|PMID:34339548|PMID:34677667|PMID:34868048|PMID:35293882|PMID:35902954|PMID:36155879|PMID:36706356|PMID:37851074|PMID:38129595|PMID:39469717|PMID:9536098
12075953	UNC13D	unc-13 homolog D	gene	DOID:0110923	familial hemophagocytic lymphohistiocytosis 3	susceptibility	ISO	RGD:1604204	D	RGD:9068941	20200609	RGD		DNA:deletions, insertion, snps:exons, intron:multiple (human)	PMID:14622600|REF_RGD_ID:1600451
12075953	UNC13D	unc-13 homolog D	gene	DOID:10534	stomach cancer		ISO	RGD:1604204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12075953	UNC13D	unc-13 homolog D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12075953	UNC13D	unc-13 homolog D	gene	DOID:1115	sarcoma		ISO	RGD:1604204	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12075953	UNC13D	unc-13 homolog D	gene	DOID:12450	pancytopenia		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:14622600|PMID:16278825|PMID:21755595|PMID:25741868|PMID:28492532|PMID:29665027
12075953	UNC13D	unc-13 homolog D	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1604204	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21370424|PMID:21600143|PMID:21674762|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25023975|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28973083|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32222431|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34170459|PMID:34339548|PMID:34677667|PMID:34868048|PMID:36155879|PMID:36192439|PMID:37288985|PMID:9536098
12075953	UNC13D	unc-13 homolog D	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1604204	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10459864|PMID:14622600|PMID:15466010|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17576681|PMID:17993578|PMID:18240215|PMID:18492689|PMID:18759271|PMID:19484379|PMID:19704116|PMID:20823128|PMID:21094958|PMID:21152410|PMID:21248318|PMID:21370424|PMID:21600143|PMID:21674762|PMID:21755595|PMID:21881043|PMID:23180437|PMID:23840885|PMID:24033266|PMID:24139496|PMID:24459464|PMID:24470399|PMID:24916509|PMID:25023975|PMID:25502423|PMID:25573973|PMID:25741868|PMID:26342526|PMID:28399723|PMID:28492532|PMID:28748566|PMID:28973083|PMID:29113160|PMID:29262924|PMID:29357941|PMID:29415165|PMID:29549174|PMID:30899265|PMID:32222431|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34170459|PMID:34339548|PMID:34677667|PMID:34868048|PMID:36155879|PMID:36192439|PMID:37288985|PMID:9536098
12075953	UNC13D	unc-13 homolog D	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1604204	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10459864|PMID:14622600|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17993578|PMID:18240215|PMID:21094958|PMID:21370424|PMID:21600143|PMID:21881043|PMID:23264592|PMID:23840885|PMID:24033266|PMID:24470399|PMID:24916509|PMID:25741868|PMID:27535855|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29357941|PMID:29415165|PMID:29549174|PMID:29977033|PMID:30899265|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34185399|PMID:34868048|PMID:36706356
12075953	UNC13D	unc-13 homolog D	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10459864|PMID:14622600|PMID:16199547|PMID:16278825|PMID:16825436|PMID:17993578|PMID:18240215|PMID:21094958|PMID:21152410|PMID:21370424|PMID:21600143|PMID:21674762|PMID:21881043|PMID:23264592|PMID:23840885|PMID:24470399|PMID:24916509|PMID:25741868|PMID:27535855|PMID:28399723|PMID:28492532|PMID:28748566|PMID:29113160|PMID:29357941|PMID:29415165|PMID:29977033|PMID:30899265|PMID:32375849|PMID:32542393|PMID:32638196|PMID:33746956|PMID:34185399|PMID:34868048|PMID:36706356
12075953	UNC13D	unc-13 homolog D	gene	DOID:3275	thymoma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12075953	UNC13D	unc-13 homolog D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12075953	UNC13D	unc-13 homolog D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12075953	UNC13D	unc-13 homolog D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075953	UNC13D	unc-13 homolog D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12075953	UNC13D	unc-13 homolog D	gene	DOID:630	genetic disease		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12075953	UNC13D	unc-13 homolog D	gene	DOID:9000972	Fever		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fever	PMID:14622600|PMID:25741868|PMID:28492532|PMID:29665027
12075953	UNC13D	unc-13 homolog D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12075953	UNC13D	unc-13 homolog D	gene	DOID:9003507	Premature Birth		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23840885|PMID:25741868|PMID:28492532|PMID:34868048
12075953	UNC13D	unc-13 homolog D	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12075953	UNC13D	unc-13 homolog D	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:1604204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis | ClinVar Annotator: match by term: Hereditary hemophagocytic lymphohistiocytosis	PMID:16825436|PMID:21931115|PMID:23180437|PMID:23560006|PMID:24470399|PMID:24842371|PMID:24935083|PMID:25553300|PMID:25573973|PMID:25741868|PMID:27123661|PMID:27164702|PMID:27896523|PMID:28492532|PMID:28848550|PMID:29549174|PMID:29665027|PMID:33746956|PMID:36706356|PMID:37851074
12075953	UNC13D	unc-13 homolog D	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:14622600|PMID:25741868|PMID:28492532|PMID:29665027
12075953	UNC13D	unc-13 homolog D	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:14622600|PMID:25741868|PMID:28492532|PMID:29665027
12075953	UNC13D	unc-13 homolog D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075953	UNC13D	unc-13 homolog D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868|PMID:28492532
12075953	UNC13D	unc-13 homolog D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:0110484	autosomal recessive nonsyndromic deafness 26		ISO	RGD:1322354	D	RGD:7240710	20190315	OMIM			
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:4977	lymphedema		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:540	strabismus		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9000197	Edema		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322355	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation: :	PMID:25617348|REF_RGD_ID:14995329
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:1322354	D	RGD:9068941	20200925	RGD		DNA:SNP:intron:	PMID:17211494|REF_RGD_ID:39128202
12075997	GAB1	GRB2 associated binding protein 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1322354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
12076024	MRPL54	mitochondrial ribosomal protein L54	gene	DOID:4362	cervical cancer		ISO	RGD:1313872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076024	MRPL54	mitochondrial ribosomal protein L54	gene	DOID:5041	esophageal cancer		ISO	RGD:1313872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076031	ZNF143	zinc finger protein 143	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076031	ZNF143	zinc finger protein 143	gene	DOID:10534	stomach cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076031	ZNF143	zinc finger protein 143	gene	DOID:1115	sarcoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076031	ZNF143	zinc finger protein 143	gene	DOID:1324	lung cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076031	ZNF143	zinc finger protein 143	gene	DOID:1909	melanoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076031	ZNF143	zinc finger protein 143	gene	DOID:3070	high grade glioma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12076031	ZNF143	zinc finger protein 143	gene	DOID:4362	cervical cancer		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076031	ZNF143	zinc finger protein 143	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076031	ZNF143	zinc finger protein 143	gene	DOID:5041	esophageal cancer		ISO	RGD:1313824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076031	ZNF143	zinc finger protein 143	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076031	ZNF143	zinc finger protein 143	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1313824	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:27349184
12076031	ZNF143	zinc finger protein 143	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076031	ZNF143	zinc finger protein 143	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076056	OLFM4	olfactomedin 4	gene	DOID:289	endometriosis		ISO	RGD:1323306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21048224
12076056	OLFM4	olfactomedin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076056	OLFM4	olfactomedin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076056	OLFM4	olfactomedin 4	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:1323306	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs12429545	PMID:25953783|REF_RGD_ID:11055817
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:5844	myocardial infarction		ISO	RGD:736345	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs6080699) (human)	PMID:20036365|REF_RGD_ID:6483554
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:784	chronic kidney disease		ISO	RGD:3273	D	RGD:9068941	20200609	RGD			PMID:18039782|REF_RGD_ID:6483556
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3273	D	RGD:9068941	20200609	RGD			PMID:19142196|REF_RGD_ID:6483555
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:736346	D	RGD:9068941	20200609	RGD			PMID:19142196|REF_RGD_ID:6483555
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9005372	Inflammation		ISO	RGD:3273	D	RGD:9068941	20200609	RGD			PMID:14630714|REF_RGD_ID:2308900
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9005372	Inflammation		ISO	RGD:3273	D	RGD:9068941	20241017	RGD		mRNA:increased expression:lymph node	PMID:27837406|REF_RGD_ID:407580520
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3273	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spleen	PMID:11730986|REF_RGD_ID:2308905
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:3273	D	RGD:9068941	20200609	RGD			PMID:16337011|REF_RGD_ID:6483567
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12076068	PCSK2	proprotein convertase subtilisin/kexin type 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736345	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:IVS2CA (human)	PMID:7698505|REF_RGD_ID:2308936
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:732471	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33617879
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732471	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33617879
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:417	autoimmune disease		ISO	RGD:732471	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33617879
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:732471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9005765	Autoinflammation with Pulmonary and Cutaneous Vasculitis		ISO	RGD:732471	D	RGD:7240710	20230505	OMIM			
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9005765	Autoinflammation with Pulmonary and Cutaneous Vasculitis		ISO	RGD:732471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammation with pulmonary and cutaneous vasculitis	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076084	HCK	HCK proto-oncogene, Src family tyrosine kinase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:732471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17344919
12076101	CRYL1	crystallin lambda 1	gene	DOID:0110475	autosomal recessive nonsyndromic deafness 1A		ISO	RGD:735568	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 1A	PMID:15994881|PMID:17041943|PMID:18324688|PMID:20236118|PMID:28492532
12076101	CRYL1	crystallin lambda 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12076101	CRYL1	crystallin lambda 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076101	CRYL1	crystallin lambda 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
12076101	CRYL1	crystallin lambda 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12076101	CRYL1	crystallin lambda 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076101	CRYL1	crystallin lambda 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076122	PXN	paxillin	gene	DOID:10534	stomach cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076122	PXN	paxillin	gene	DOID:1115	sarcoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076122	PXN	paxillin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21159652
12076122	PXN	paxillin	gene	DOID:4362	cervical cancer		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076122	PXN	paxillin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076122	PXN	paxillin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12076122	PXN	paxillin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
12076122	PXN	paxillin	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18492274
12076122	PXN	paxillin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076122	PXN	paxillin	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100775
12076122	PXN	paxillin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076151	TMEM64	transmembrane protein 64	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076151	TMEM64	transmembrane protein 64	gene	DOID:1115	sarcoma		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076151	TMEM64	transmembrane protein 64	gene	DOID:4362	cervical cancer		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076151	TMEM64	transmembrane protein 64	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315735	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1315735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076166	RHOBTB1	Rho related BTB domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076208	MYPN	myopalladin	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1318320	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria	PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: cardiomyopathy	PMID:22286171|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27532257|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30775854|PMID:30847666|PMID:32826072|PMID:33802723|PMID:34935411|PMID:35885997
12076208	MYPN	myopalladin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076208	MYPN	myopalladin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12076208	MYPN	myopalladin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:32880476
12076208	MYPN	myopalladin	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:16199547|PMID:25741868|PMID:25741902|PMID:28017374|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1318320	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532|PMID:32880476
12076208	MYPN	myopalladin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:7240710	20180130	OMIM			
12076208	MYPN	myopalladin	gene	DOID:0110445	dilated cardiomyopathy 1KK		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1KK | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4 | ClinVar Annotator: match by term: Dilated cardiomyopathy 1KK | ClinVar Annotator: match by term: MYPN-related condition	PMID:16199547|PMID:17576681|PMID:18006477|PMID:19466753|PMID:21455759|PMID:22286171|PMID:22337857|PMID:22892539|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26350513|PMID:26458567|PMID:27532257|PMID:27896284|PMID:28017374|PMID:28087566|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28798025|PMID:30165862|PMID:30260051|PMID:30471092|PMID:30775854|PMID:30847666|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32140910|PMID:32746448|PMID:32826072|PMID:32880476|PMID:33658040|PMID:33662488|PMID:33802723|PMID:33906374|PMID:33954932|PMID:34184449|PMID:34302607|PMID:34935411|PMID:35026164|PMID:35885997|PMID:38540378|PMID:9536098
12076208	MYPN	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:7240710	20190315	OMIM			
12076208	MYPN	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:18006477|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24558114|PMID:25741868|PMID:25741905|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28017374|PMID:28220527|PMID:28416588|PMID:28427417|PMID:28492532|PMID:29247119|PMID:29447731|PMID:30471092|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32880476|PMID:33297573|PMID:33906374|PMID:34088380|PMID:34184449|PMID:34797172|PMID:35026164|PMID:35581137|PMID:36178741|PMID:36935760|PMID:9536098
12076208	MYPN	myopalladin	gene	DOID:0110933	nemaline myopathy 11		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 24 | ClinVar Annotator: match by term: MYPN-related myopathy | ClinVar Annotator: match by term: Nemaline myopathy 11, autosomal recessive	PMID:17576681|PMID:22286171|PMID:22892539|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26458567|PMID:27532257|PMID:28017374|PMID:28087566|PMID:28492532|PMID:28798025|PMID:30260051|PMID:30775854|PMID:30847666|PMID:31983221|PMID:33802723|PMID:33906374|PMID:33954932|PMID:34302607|PMID:35026164|PMID:35885997|PMID:9536098
12076208	MYPN	myopalladin	gene	DOID:10534	stomach cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076208	MYPN	myopalladin	gene	DOID:1115	sarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076208	MYPN	myopalladin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31513939
12076208	MYPN	myopalladin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
12076208	MYPN	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:31333075|PMID:31568572
12076208	MYPN	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30847666|PMID:31333075|PMID:31568572
12076208	MYPN	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37936622
12076208	MYPN	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:18006477|PMID:20801532|PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:26498160|PMID:26899768|PMID:27194543|PMID:27884173|PMID:27896284|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:31983221|PMID:32826072|PMID:32880476|PMID:33049752|PMID:34797172|PMID:35581137|PMID:36178741|PMID:36935760|PMID:37904629|PMID:37936622
12076208	MYPN	myopalladin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, dilated | ClinVar Annotator: match by term: Dilated Cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:22286171|PMID:23299917|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26383259|PMID:27194543|PMID:28416588|PMID:28492532|PMID:29773157|PMID:30012837|PMID:30764827|PMID:30847666|PMID:31333075|PMID:31524317|PMID:31568572|PMID:37904629|PMID:37936622
12076208	MYPN	myopalladin	gene	DOID:1324	lung cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076208	MYPN	myopalladin	gene	DOID:1909	melanoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076208	MYPN	myopalladin	gene	DOID:1969	cerebral palsy		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebral palsy	PMID:25741868
12076208	MYPN	myopalladin	gene	DOID:2843	long QT syndrome		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT Syndrome	PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:3191	nemaline myopathy		ISO	RGD:1318320	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868|PMID:28220527
12076208	MYPN	myopalladin	gene	DOID:3275	thymoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076208	MYPN	myopalladin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868|PMID:28492532|PMID:30775854|PMID:31568572
12076208	MYPN	myopalladin	gene	DOID:4362	cervical cancer		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076208	MYPN	myopalladin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318320	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076208	MYPN	myopalladin	gene	DOID:6000	congestive heart failure		ISO	RGD:1318320	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heart failure	PMID:22286171|PMID:23299917|PMID:24033266|PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076208	MYPN	myopalladin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12076208	MYPN	myopalladin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318320	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532|PMID:29447731|PMID:30847666|PMID:31110529|PMID:33297573
12076208	MYPN	myopalladin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076208	MYPN	myopalladin	gene	DOID:9007820	Sudden Death		ISO	RGD:1318320	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:25741868|PMID:28492532
12076208	MYPN	myopalladin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076242	SDR42E1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:0081238	acromesomelic dysplasia 4		ISO	RGD:1601729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 4	PMID:25741868
12076242	SDR42E1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076242	SDR42E1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076242	SDR42E1	short chain dehydrogenase/reductase family 42E, member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1601729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0060260	ptosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0060320	inguinal hernia		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4		ISO	RGD:1347377	D	RGD:7240710	20190911	OMIM			
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:0112213	multiple congenital anomalies-hypotonia-seizures syndrome 4		ISO	RGD:1347377	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 77 | ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4 | ClinVar Annotator: match by term: PIGQ-related condition	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:38456468
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:11111	hydronephrosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:1143	exotropia		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:13620	patent foramen ovale		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:9536098
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:9536098
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:1826	epilepsy		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:16199547|PMID:17576681|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:37105505|PMID:38456468|PMID:9536098
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:535	sleep disorder		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:630	genetic disease		ISO	RGD:1347377	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:27513193|PMID:28492532|PMID:31148362|PMID:32588908|PMID:32746448|PMID:38456468
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:8445	intestinal volvulus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9008675	Dyskinesias		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076255	PIGQ	phosphatidylinositol glycan anchor biosynthesis class Q	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:16199547|PMID:24463883|PMID:25558065|PMID:25741868|PMID:28492532|PMID:32588908|PMID:32746448
12076269	PRRG3	proline rich and Gla domain 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12076269	PRRG3	proline rich and Gla domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076269	PRRG3	proline rich and Gla domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076294	LAD1	ladinin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076294	LAD1	ladinin 1	gene	DOID:1115	sarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076294	LAD1	ladinin 1	gene	DOID:1324	lung cancer		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076294	LAD1	ladinin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076294	LAD1	ladinin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076294	LAD1	ladinin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076294	LAD1	ladinin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076294	LAD1	ladinin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12076310	KRT20	keratin 20	gene	DOID:10534	stomach cancer		ISO	RGD:1347381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076310	KRT20	keratin 20	gene	DOID:299	adenocarcinoma		ISO	RGD:1347381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12076310	KRT20	keratin 20	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12076310	KRT20	keratin 20	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12076310	KRT20	keratin 20	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347381	D	RGD:9068941	20200609	RGD		associated with Colorectal Neoplasms	PMID:10931219|REF_RGD_ID:2317676
12076310	KRT20	keratin 20	gene	DOID:9003694	Cecal Neoplasms		ISO	RGD:1347381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14688030
12076310	KRT20	keratin 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076310	KRT20	keratin 20	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1347381	D	RGD:9068941	20220224	RGD			PMID:23322277|REF_RGD_ID:151356994
12076322	PHF21B	PHD finger protein 21B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076322	PHF21B	PHD finger protein 21B	gene	DOID:1115	sarcoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076322	PHF21B	PHD finger protein 21B	gene	DOID:1909	melanoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076322	PHF21B	PHD finger protein 21B	gene	DOID:4362	cervical cancer		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076322	PHF21B	PHD finger protein 21B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076339	CKLF	chemokine like factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12076353	KLK7	kallikrein related peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076353	KLK7	kallikrein related peptidase 7	gene	DOID:1324	lung cancer		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076353	KLK7	kallikrein related peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12076353	KLK7	kallikrein related peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076402	MINK1	misshapen like kinase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12076402	MINK1	misshapen like kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12076402	MINK1	misshapen like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076402	MINK1	misshapen like kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12076402	MINK1	misshapen like kinase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12076402	MINK1	misshapen like kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076402	MINK1	misshapen like kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076402	MINK1	misshapen like kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076402	MINK1	misshapen like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12076402	MINK1	misshapen like kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076402	MINK1	misshapen like kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076402	MINK1	misshapen like kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076402	MINK1	misshapen like kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:1227	neutropenia		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:1909	melanoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:4362	cervical cancer		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:630	genetic disease		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9001840	Immunodeficiency 78 with Autoimmunity and Developmental Delay		ISO	RGD:734318	D	RGD:7240710	20210324	OMIM			
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9001840	Immunodeficiency 78 with Autoimmunity and Developmental Delay		ISO	RGD:734318	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Immunodeficiency 78 with autoimmunity and developmental delay | ClinVar Annotator: match by term: TPP2 deficiency | ClinVar Annotator: match by term: TPP2-related condition	PMID:25741868|PMID:28492532
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9004484	Sepsis		ISO	RGD:621584	D	RGD:9068941	20211217	RGD		mRNA, protein:increased expression, increased activity:extensor digitorum longus (rat)	PMID:12147224|REF_RGD_ID:634435
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9009063	Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency	PMID:16199547|PMID:17576681|PMID:25414442|PMID:25640679|PMID:25741868|PMID:28492532|PMID:33586135|PMID:9536098
12076443	TPP2	tripeptidyl peptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076486	MIR133B	microRNA mir-133b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1352188	D	RGD:9068941	20230128	RGD		mRNA:decreased expression:liver(human)	PMID:30391496|REF_RGD_ID:155804298
12076486	MIR133B	microRNA mir-133b	gene	DOID:9006332	Vascular Calcification		ISO	RGD:2325527	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;RNA:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
12076487	MIR208B	microRNA mir-208b	gene	DOID:0060253	scapuloperoneal myopathy		ISO	RGD:9833146	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Scapuloperoneal syndrome, myopathic type	PMID:25741868|PMID:27247418|PMID:28492532|PMID:29121657|PMID:31638223
12076487	MIR208B	microRNA mir-208b	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:9833146	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868|PMID:27247418|PMID:28492532|PMID:29121657|PMID:31638223
12076487	MIR208B	microRNA mir-208b	gene	DOID:0111269	autosomal dominant hyaline body myopathy		ISO	RGD:9833146	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Scapuloperoneal myopathy, MYH7-related	PMID:25741868|PMID:27247418|PMID:28492532|PMID:29121657|PMID:31638223
12076490	MIR105B	microRNA mir-105b	gene	DOID:9004994	Embryo Loss		ISO	RGD:2314082	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
12076570	GIMAP7	GTPase, IMAP family member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076570	GIMAP7	GTPase, IMAP family member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1343694	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12076570	GIMAP7	GTPase, IMAP family member 7	gene	DOID:1909	melanoma		ISO	RGD:1343694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076576	MLH3	mutL homolog 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076576	MLH3	mutL homolog 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076576	MLH3	mutL homolog 3	gene	DOID:0070276	hereditary nonpolyposis colorectal cancer type 7		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 7 | ClinVar Annotator: match by term: colorectal cancer, hereditary nonpolyposis, type 7	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16199547|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:18414213|PMID:18521850|PMID:19156873|PMID:23376243|PMID:23960188|PMID:25741868|PMID:26542077|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:30614234|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:33294277|PMID:33517345|PMID:33821390|PMID:34106356|PMID:35980532|PMID:36896836|PMID:40089605|PMID:9536098
12076576	MLH3	mutL homolog 3	gene	DOID:0070276	hereditary nonpolyposis colorectal cancer type 7	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
12076576	MLH3	mutL homolog 3	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligoasthenoteratozoospermia	PMID:25741868|PMID:28492532|PMID:33517345|PMID:40089605
12076576	MLH3	mutL homolog 3	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1319451	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:25741868
12076576	MLH3	mutL homolog 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076576	MLH3	mutL homolog 3	gene	DOID:1115	sarcoma		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076576	MLH3	mutL homolog 3	gene	DOID:1380	endometrial cancer	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
12076576	MLH3	mutL homolog 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12076576	MLH3	mutL homolog 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1319451	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:25741868|PMID:26542077|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:3459	breast carcinoma		ISO	RGD:1319451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868
12076576	MLH3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:11586295|PMID:18521850|PMID:19156873|PMID:25637381|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29212164
12076576	MLH3	mutL homolog 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis	PMID:11586295|PMID:12800209|PMID:18521850|PMID:19156873|PMID:25741868|PMID:28492532|PMID:29212164
12076576	MLH3	mutL homolog 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076576	MLH3	mutL homolog 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1319451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16981255
12076576	MLH3	mutL homolog 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33606809|PMID:33821390|PMID:9536098
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31921681|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:9536098
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11317354|PMID:11586295|PMID:12702580|PMID:12800209|PMID:16885347|PMID:16981255|PMID:17312306|PMID:17576681|PMID:17656264|PMID:18521850|PMID:19156873|PMID:21153778|PMID:22290698|PMID:23376243|PMID:23960188|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25927356|PMID:26546047|PMID:27696107|PMID:28166811|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29641532|PMID:29945567|PMID:31043711|PMID:31297992|PMID:31921681|PMID:32469048|PMID:32984025|PMID:33294277|PMID:33606809|PMID:33821390|PMID:34106356|PMID:34408140|PMID:35292633|PMID:9536098
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25637381|PMID:25741868|PMID:28492532|PMID:35475445|PMID:35988656
12076576	MLH3	mutL homolog 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:35988656
12076576	MLH3	mutL homolog 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1319451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12076576	MLH3	mutL homolog 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656264
12076576	MLH3	mutL homolog 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319451	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	PMID:25741868
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:28492532|PMID:31745173
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11317354|PMID:25741868|PMID:26542077|PMID:28492532|PMID:35292633
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1319451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:25741868|PMID:26542077|PMID:28492532
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer	sexual_dimorphism	ISO	RGD:1319451	D	RGD:9068941	20220825	RGD		DNA:SNP:3'utr: (rs108621)	PMID:29516665|REF_RGD_ID:153344543
12076576	MLH3	mutL homolog 3	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1319451	D	RGD:7240710	20260812	OMIM			
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0050890	synucleinopathy	ameliorates	ISO	RGD:1561168	D	RGD:9068941	20221201	RGD			PMID:24927544|REF_RGD_ID:13462057
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0060180	colitis		ISO	RGD:1557751	D	RGD:9068941	20200609	RGD			PMID:21983832|REF_RGD_ID:5508401
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0060260	ptosis		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:7240710	20180130	OMIM			
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0060371	Parkinson's disease 8		ISO	RGD:1353141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition | ClinVar Annotator: match by term: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant	PMID:15541308|PMID:15541309|PMID:15852371|PMID:15880653|PMID:15925109|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16199547|PMID:16247070|PMID:16251215|PMID:16269443|PMID:16321986|PMID:16333314|PMID:16533964|PMID:16602113|PMID:16633828|PMID:16750377|PMID:16758483|PMID:16788020|PMID:16939701|PMID:16991141|PMID:17019612|PMID:17050822|PMID:17078063|PMID:17095157|PMID:17149743|PMID:17179858|PMID:17200152|PMID:17216639|PMID:17222106|PMID:17314670|PMID:17419834|PMID:17427941|PMID:17442267|PMID:17447891|PMID:17482357|PMID:17523199|PMID:17576681|PMID:17622782|PMID:17623048|PMID:17659642|PMID:17720280|PMID:17803033|PMID:17804834|PMID:17914064|PMID:18098275|PMID:18197194|PMID:18213618|PMID:18230735|PMID:18265005|PMID:18316234|PMID:18337586|PMID:18358451|PMID:18523869|PMID:18688798|PMID:18704525|PMID:18923807|PMID:18973254|PMID:18973807|PMID:19006185|PMID:19020907|PMID:19152345|PMID:19302196|PMID:19308469|PMID:19343804|PMID:19357115|PMID:19397894|PMID:19405094|PMID:19472409|PMID:19489756|PMID:19527940|PMID:19625296|PMID:19640773|PMID:19667187|PMID:19735093|PMID:19741132|PMID:19781641|PMID:19800393|PMID:19854095|PMID:20177695|PMID:20186690|PMID:20301387|PMID:20386743|PMID:20443975|PMID:20642453|PMID:20669299|PMID:20673920|PMID:20721913|PMID:21060682|PMID:21406209|PMID:21494637|PMID:21538529|PMID:21641848|PMID:21658387|PMID:21700325|PMID:21796139|PMID:21885347|PMID:22004453|PMID:22243833|PMID:22342962|PMID:22415848|PMID:22445250|PMID:22575234|PMID:22612223|PMID:22988866|PMID:22988870|PMID:23124679|PMID:23241358|PMID:23241745|PMID:23268655|PMID:23600457|PMID:23726462|PMID:23764467|PMID:23913756|PMID:23963289|PMID:24033266|PMID:24046064|PMID:24082139|PMID:24095219|PMID:24339985|PMID:24351927|PMID:24357540|PMID:24360742|PMID:24375786|PMID:24470158|PMID:24488318|PMID:24496098|PMID:24559644|PMID:24565865|PMID:24695735|PMID:24973808|PMID:25009464|PMID:25027012|PMID:25127457|PMID:25133958|PMID:25174650|PMID:25174890|PMID:25243190|PMID:25316291|PMID:25330418|PMID:25355420|PMID:25378673|PMID:25466404|PMID:25511328|PMID:25640679|PMID:25741868|PMID:25821816|PMID:25943890|PMID:25962553|PMID:26213354|PMID:26251043|PMID:26311745|PMID:26363496|PMID:26467025|PMID:26687033|PMID:27013965|PMID:27094865|PMID:27111571|PMID:27294386|PMID:27393345|PMID:27798102|PMID:27832104|PMID:28103901|PMID:28130640|PMID:28166811|PMID:28453723|PMID:28492532|PMID:29029963|PMID:29248340|PMID:29321258|PMID:29332010|PMID:29369408|PMID:29800472|PMID:29887346|PMID:30039155|PMID:30049590|PMID:30363439|PMID:30502028|PMID:30598256|PMID:30796162|PMID:30917570|PMID:31182772|PMID:31487119|PMID:32171587|PMID:32244201|PMID:32398759|PMID:32557143|PMID:32580205|PMID:32613234|PMID:32677286|PMID:32677319|PMID:32707456|PMID:32740907|PMID:32794657|PMID:33158606|PMID:33281709|PMID:33640967|PMID:33818904|PMID:33836114|PMID:34542912|PMID:35608967|PMID:35768426|PMID:35861376|PMID:35950872|PMID:36006382|PMID:36879366|PMID:37256495|PMID:37371062|PMID:37750340|PMID:38137339|PMID:38191580|PMID:38753688|PMID:40786864|PMID:41744785|PMID:9536098
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:15541309|PMID:21538529|PMID:24565865|PMID:27111571|PMID:28492532
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:1024	leprosy		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1561168	D	RGD:9068941	20200609	RGD			PMID:24927544|REF_RGD_ID:13462057
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:15541309|PMID:16333314|PMID:17622782|PMID:20301387|PMID:20443975|PMID:22415848|PMID:24339985|PMID:25378673|PMID:25741868|PMID:26467025|PMID:27423549|PMID:28492532|PMID:31731261|PMID:32740907|PMID:33001463|PMID:35861376|PMID:35950872|PMID:40786864
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G2019S (human)	PMID:21483109|REF_RGD_ID:5508406
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R1398H (human)	PMID:21159540|REF_RGD_ID:5508409
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:162	cancer	susceptibility	ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease;DNA:missense mutation:cds:p.G2019S (human)	PMID:20818610|REF_RGD_ID:5508410
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:289	endometriosis		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:21375368|REF_RGD_ID:5508417
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353141	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:543	dystonia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:25741868
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:33158606|PMID:33640967
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15680455|PMID:15680456|PMID:15680457|PMID:15726496|PMID:15732108|PMID:15811455|PMID:15852371|PMID:15880653|PMID:15929036|PMID:15955629|PMID:16001413|PMID:16102999|PMID:16115731|PMID:16145815|PMID:16157901|PMID:16157908|PMID:16172858|PMID:16240353|PMID:16251215|PMID:16269443|PMID:16269541|PMID:16311269|PMID:16311595|PMID:16333314|PMID:16401756|PMID:16436781|PMID:16436782|PMID:16533964|PMID:16602113|PMID:16622854|PMID:16728648|PMID:16750377|PMID:16758483|PMID:16939701|PMID:16960813|PMID:16966501|PMID:16966502|PMID:17050822|PMID:17060595|PMID:17078063|PMID:17215492|PMID:17353388|PMID:17803033|PMID:17938369|PMID:18213618|PMID:18539534|PMID:18539535|PMID:18704525|PMID:18981379|PMID:18986508|PMID:19020907|PMID:19283415|PMID:19357115|PMID:19472409|PMID:19489756|PMID:19527940|PMID:20008657|PMID:20197411|PMID:20301387|PMID:20413974|PMID:20669299|PMID:21115957|PMID:21234781|PMID:21280089|PMID:21753163|PMID:21850687|PMID:21885347|PMID:22445250|PMID:22539006|PMID:22575234|PMID:23075850|PMID:23472874|PMID:24033266|PMID:24148854|PMID:24243757|PMID:24816003|PMID:25330418|PMID:25741868|PMID:26062626|PMID:26251043|PMID:26467025|PMID:28465860|PMID:28492532|PMID:28639421|PMID:29309488|PMID:29386392|PMID:29402177|PMID:30760999|PMID:32613234|PMID:33158606|PMID:33640967
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15541309|PMID:15852371|PMID:15880653|PMID:16157908|PMID:16172858|PMID:16251215|PMID:16269443|PMID:16333314|PMID:16602113|PMID:16758483|PMID:16939701|PMID:17050822|PMID:17078063|PMID:17803033|PMID:19472409|PMID:19527940|PMID:20301387|PMID:20669299|PMID:21885347|PMID:22445250|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33158606|PMID:33640967|PMID:39051491
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1353141	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532|PMID:33640967|PMID:39051491
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD			PMID:17082220|REF_RGD_ID:5508419
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1353141	D	RGD:9068941	20200609	RGD		DNA:point mutation: :p.T2397M (rs3761863) (human)	PMID:21983832|REF_RGD_ID:5508401
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9000071	Signs and Symptoms		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9001981	Weight Loss		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:19741132
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16172858|PMID:19472409|PMID:20301387|PMID:21885347|PMID:25741868|PMID:28492532
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9008297	Motor Disorders		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1353141	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:31174552
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353141	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353141	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1353141	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	
12076607	LRRK2	leucine rich repeat kinase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1561168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:cerebellum, Purkinje cell	PMID:24810053|REF_RGD_ID:13462056
12076666	JMJD8	jumonji domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:3275	thymoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076666	JMJD8	jumonji domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050830	peripheral artery disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)	PMID:9201602|REF_RGD_ID:8547710
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050847	sleep apnea		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20508215|REF_RGD_ID:4144827
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18330639|REF_RGD_ID:4144837
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (rat)	PMID:27129290|REF_RGD_ID:11073688
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050851	glomerulosclerosis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26999660|REF_RGD_ID:11073618
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:26869361|REF_RGD_ID:11073686
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050855	renal fibrosis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:27018336|REF_RGD_ID:11073616
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:24999729|REF_RGD_ID:13208508
12076681	SERPINE1	serpin family E member 1	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa (rat)	PMID:15878520|REF_RGD_ID:8547730
12076681	SERPINE1	serpin family E member 1	gene	DOID:0051061	stroke		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:11450024|REF_RGD_ID:4144847
12076681	SERPINE1	serpin family E member 1	gene	DOID:0060181	ischemic colitis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:25656775|REF_RGD_ID:13208543
12076681	SERPINE1	serpin family E member 1	gene	DOID:0060496	respiratory allergy		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211530
12076681	SERPINE1	serpin family E member 1	gene	DOID:0060903	thrombosis		ISO	RGD:69014	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
12076681	SERPINE1	serpin family E member 1	gene	DOID:0060903	thrombosis	no_association	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:deletion:promoter:g.-676_-674delG (human)	PMID:12632020|REF_RGD_ID:7394765
12076681	SERPINE1	serpin family E member 1	gene	DOID:0060903	thrombosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Lupus Nephritis;;DNA:insertion/deletion: :	PMID:17469143|REF_RGD_ID:7175506
12076681	SERPINE1	serpin family E member 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25561792|REF_RGD_ID:11075083
12076681	SERPINE1	serpin family E member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:25091195|REF_RGD_ID:13208545
12076681	SERPINE1	serpin family E member 1	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:11055	D	RGD:9068941	20220825	MouseDO			
12076681	SERPINE1	serpin family E member 1	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:17446839|REF_RGD_ID:8547894
12076681	SERPINE1	serpin family E member 1	gene	DOID:0080998	acute necrotizing pancreatitis	disease_progression	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:15257107|REF_RGD_ID:13208542
12076681	SERPINE1	serpin family E member 1	gene	DOID:0081120	Graves ophthalmopathy	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Graves Disease;protein:increased expression:tears (human)	PMID:22385289|REF_RGD_ID:8547756
12076681	SERPINE1	serpin family E member 1	gene	DOID:0081267	graft-versus-host disease	Treatment	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:26414805|REF_RGD_ID:11343779
12076681	SERPINE1	serpin family E member 1	gene	DOID:0111046	platelet-type bleeding disorder 10	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:18820218|REF_RGD_ID:13208509
12076681	SERPINE1	serpin family E member 1	gene	DOID:10247	pleurisy	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):	PMID:23052617|REF_RGD_ID:13207414
12076681	SERPINE1	serpin family E member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679377
12076681	SERPINE1	serpin family E member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:16952198|REF_RGD_ID:2292128
12076681	SERPINE1	serpin family E member 1	gene	DOID:10763	hypertension		ISO	RGD:3249	D	RGD:9068941	20200903	RGD		mRNA:increased expression:kidney (SHRSP/A3N rat)	PMID:11907153|REF_RGD_ID:28912746
12076681	SERPINE1	serpin family E member 1	gene	DOID:10763	hypertension		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829|PMID:22352330
12076681	SERPINE1	serpin family E member 1	gene	DOID:10763	hypertension		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:8355419|REF_RGD_ID:8547753
12076681	SERPINE1	serpin family E member 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:16645728|REF_RGD_ID:11081003
12076681	SERPINE1	serpin family E member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:19010488|REF_RGD_ID:4144867
12076681	SERPINE1	serpin family E member 1	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:blood (rat)	PMID:23737601|REF_RGD_ID:10449432
12076681	SERPINE1	serpin family E member 1	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:15869603|REF_RGD_ID:11080963
12076681	SERPINE1	serpin family E member 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Pneumonia, aspiration; protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:16284739|REF_RGD_ID:4144039
12076681	SERPINE1	serpin family E member 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17667242|REF_RGD_ID:4144037
12076681	SERPINE1	serpin family E member 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:25967608|REF_RGD_ID:11075075
12076681	SERPINE1	serpin family E member 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:19375763|REF_RGD_ID:13208505
12076681	SERPINE1	serpin family E member 1	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Premature Birth;protein:increased expression:blood:	PMID:25140773|REF_RGD_ID:13208551
12076681	SERPINE1	serpin family E member 1	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:25987440|REF_RGD_ID:14696749
12076681	SERPINE1	serpin family E member 1	gene	DOID:11713	diabetic angiopathy	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:deletion, haplotype:promoter:g.-676_-674delG (human)	PMID:9844142|REF_RGD_ID:8547700
12076681	SERPINE1	serpin family E member 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17513194
12076681	SERPINE1	serpin family E member 1	gene	DOID:12361	Graves' disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:tears (human)	PMID:22385289|REF_RGD_ID:8547756
12076681	SERPINE1	serpin family E member 1	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:11980614|REF_RGD_ID:8547709
12076681	SERPINE1	serpin family E member 1	gene	DOID:12849	autistic disorder		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19360663
12076681	SERPINE1	serpin family E member 1	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:14638747|REF_RGD_ID:8547810
12076681	SERPINE1	serpin family E member 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491
12076681	SERPINE1	serpin family E member 1	gene	DOID:1312	focal segmental glomerulosclerosis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:22303720|REF_RGD_ID:13208548
12076681	SERPINE1	serpin family E member 1	gene	DOID:13207	proliferative diabetic retinopathy	disease_progression	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:23304115|REF_RGD_ID:8699497
12076681	SERPINE1	serpin family E member 1	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)	PMID:16416371|REF_RGD_ID:8699494
12076681	SERPINE1	serpin family E member 1	gene	DOID:13241	Behcet's disease		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12074830
12076681	SERPINE1	serpin family E member 1	gene	DOID:13241	Behcet's disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:18341631|REF_RGD_ID:8547693
12076681	SERPINE1	serpin family E member 1	gene	DOID:13580	cholestasis		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
12076681	SERPINE1	serpin family E member 1	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:18417194|REF_RGD_ID:13207412
12076681	SERPINE1	serpin family E member 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:19004443|REF_RGD_ID:13207334
12076681	SERPINE1	serpin family E member 1	gene	DOID:1389	polyneuropathy		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)	PMID:9201602|REF_RGD_ID:8547710
12076681	SERPINE1	serpin family E member 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta:	PMID:23814118|REF_RGD_ID:13208504
12076681	SERPINE1	serpin family E member 1	gene	DOID:14018	alcoholic liver cirrhosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:25987440|REF_RGD_ID:14696749
12076681	SERPINE1	serpin family E member 1	gene	DOID:14115	toxic shock syndrome	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)	PMID:20429897|REF_RGD_ID:4144828
12076681	SERPINE1	serpin family E member 1	gene	DOID:1577	limited scleroderma		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:15730388|REF_RGD_ID:13208597
12076681	SERPINE1	serpin family E member 1	gene	DOID:1612	breast cancer		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, tumor (human)	PMID:15448007|REF_RGD_ID:8547748
12076681	SERPINE1	serpin family E member 1	gene	DOID:1686	glaucoma		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor (human)	PMID:15710819|REF_RGD_ID:8547695
12076681	SERPINE1	serpin family E member 1	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:g.-676_-674delG (human)	PMID:16244763|REF_RGD_ID:8547742
12076681	SERPINE1	serpin family E member 1	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:15213845|REF_RGD_ID:8547805
12076681	SERPINE1	serpin family E member 1	gene	DOID:1909	melanoma		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076681	SERPINE1	serpin family E member 1	gene	DOID:1936	atherosclerosis		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12677255
12076681	SERPINE1	serpin family E member 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:69014	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:31064749
12076681	SERPINE1	serpin family E member 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26851971|REF_RGD_ID:11073692
12076681	SERPINE1	serpin family E member 1	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:27108052|REF_RGD_ID:11073613
12076681	SERPINE1	serpin family E member 1	gene	DOID:2378	relapsing-remitting multiple sclerosis	disease_progression	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10739162|REF_RGD_ID:13208510
12076681	SERPINE1	serpin family E member 1	gene	DOID:2841	asthma		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:plasma, lung	PMID:18594148|REF_RGD_ID:4144836
12076681	SERPINE1	serpin family E member 1	gene	DOID:2841	asthma	no_association	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:19604112|REF_RGD_ID:4144833
12076681	SERPINE1	serpin family E member 1	gene	DOID:2841	asthma	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19703828|REF_RGD_ID:4144831
12076681	SERPINE1	serpin family E member 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:19063817|REF_RGD_ID:4144832
12076681	SERPINE1	serpin family E member 1	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:12897205|REF_RGD_ID:13208810
12076681	SERPINE1	serpin family E member 1	gene	DOID:2987	familial Mediterranean fever	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:22736074|REF_RGD_ID:13207415
12076681	SERPINE1	serpin family E member 1	gene	DOID:3070	high grade glioma		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14977830|REF_RGD_ID:13208546
12076681	SERPINE1	serpin family E member 1	gene	DOID:3082	interstitial lung disease	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		Cryptogenic Organizing Pneumonia; DNA:polymorphism:promoter:rs1799768 (human)	PMID:12765340|REF_RGD_ID:4144846
12076681	SERPINE1	serpin family E member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17651644|REF_RGD_ID:6484146
12076681	SERPINE1	serpin family E member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:11929177|REF_RGD_ID:4144041
12076681	SERPINE1	serpin family E member 1	gene	DOID:3192	neurilemmoma		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:schwann cell	PMID:14963743|REF_RGD_ID:13208544
12076681	SERPINE1	serpin family E member 1	gene	DOID:3355	fibrosarcoma	severity	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:11059781|REF_RGD_ID:8547752
12076681	SERPINE1	serpin family E member 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:insertion:promoter: (human)	PMID:9484978|REF_RGD_ID:1580190
12076681	SERPINE1	serpin family E member 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood:	PMID:20686427|REF_RGD_ID:13207331
12076681	SERPINE1	serpin family E member 1	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:14512838|REF_RGD_ID:1580876
12076681	SERPINE1	serpin family E member 1	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:25702149|REF_RGD_ID:11075081
12076681	SERPINE1	serpin family E member 1	gene	DOID:3627	aortic aneurysm	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:9697825|REF_RGD_ID:8547863
12076681	SERPINE1	serpin family E member 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma	PMID:16224526|REF_RGD_ID:4144842
12076681	SERPINE1	serpin family E member 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		Idiopathic Pulmonary Fibrosis	PMID:20061390|REF_RGD_ID:4143513
12076681	SERPINE1	serpin family E member 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:22659625|REF_RGD_ID:8547927
12076681	SERPINE1	serpin family E member 1	gene	DOID:3891	placental insufficiency		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26903689|REF_RGD_ID:11557202
12076681	SERPINE1	serpin family E member 1	gene	DOID:409	liver disease		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29684222
12076681	SERPINE1	serpin family E member 1	gene	DOID:418	systemic scleroderma		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis,microvessel:	PMID:26414805|REF_RGD_ID:11343779
12076681	SERPINE1	serpin family E member 1	gene	DOID:4362	cervical cancer		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076681	SERPINE1	serpin family E member 1	gene	DOID:4448	macular degeneration		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:17675241|REF_RGD_ID:8547755
12076681	SERPINE1	serpin family E member 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal mucosa (mouse)	PMID:21339035|REF_RGD_ID:8547809
12076681	SERPINE1	serpin family E member 1	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:19063817|REF_RGD_ID:4144832
12076681	SERPINE1	serpin family E member 1	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:25987440|REF_RGD_ID:14696749
12076681	SERPINE1	serpin family E member 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:11832778|REF_RGD_ID:8547912
12076681	SERPINE1	serpin family E member 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
12076681	SERPINE1	serpin family E member 1	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:12365557|REF_RGD_ID:8547941
12076681	SERPINE1	serpin family E member 1	gene	DOID:552	pneumonia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		Pneumonia, Ventilator-Associated; protein:increased expression:Bronchoalveolar Lavage Fluid	PMID:20473240|REF_RGD_ID:4143511
12076681	SERPINE1	serpin family E member 1	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:19387177|REF_RGD_ID:4143525
12076681	SERPINE1	serpin family E member 1	gene	DOID:5520	head and neck squamous cell carcinoma	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa (human)	PMID:15878520|REF_RGD_ID:8547730
12076681	SERPINE1	serpin family E member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076681	SERPINE1	serpin family E member 1	gene	DOID:5844	myocardial infarction		ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:16053971|REF_RGD_ID:8547882
12076681	SERPINE1	serpin family E member 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:g.-676_-674delG (human)	PMID:12477941|REF_RGD_ID:1626626
12076681	SERPINE1	serpin family E member 1	gene	DOID:5845	anterolateral myocardial infarction		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased activity:heart:	PMID:12615902|REF_RGD_ID:13208541
12076681	SERPINE1	serpin family E member 1	gene	DOID:5845	anterolateral myocardial infarction	disease_progression	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:12615902|REF_RGD_ID:13208541
12076681	SERPINE1	serpin family E member 1	gene	DOID:6000	congestive heart failure		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
12076681	SERPINE1	serpin family E member 1	gene	DOID:6039	uveal melanoma	treatment	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:9326241|REF_RGD_ID:8547806
12076681	SERPINE1	serpin family E member 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3'utr	PMID:20300292|REF_RGD_ID:4143527
12076681	SERPINE1	serpin family E member 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:18337154|REF_RGD_ID:4143529
12076681	SERPINE1	serpin family E member 1	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:27115515|REF_RGD_ID:11073610
12076681	SERPINE1	serpin family E member 1	gene	DOID:74	hematopoietic system disease	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:20539915|REF_RGD_ID:11080965
12076681	SERPINE1	serpin family E member 1	gene	DOID:767	muscular atrophy		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:muscle	PMID:19574431|REF_RGD_ID:4144861
12076681	SERPINE1	serpin family E member 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:20554458|REF_RGD_ID:4144856
12076681	SERPINE1	serpin family E member 1	gene	DOID:783	end stage renal disease		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
12076681	SERPINE1	serpin family E member 1	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26903149|REF_RGD_ID:11073683
12076681	SERPINE1	serpin family E member 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:14512089|REF_RGD_ID:8547758
12076681	SERPINE1	serpin family E member 1	gene	DOID:8432	polycythemia		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Anoxia;mRNA:increased expression:heart right ventricle, heart left ventricle (rat)	PMID:9405184|REF_RGD_ID:11080746
12076681	SERPINE1	serpin family E member 1	gene	DOID:850	lung disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		Acute Lung Injury; protein:increased expression:plasma	PMID:19855955|REF_RGD_ID:4143514
12076681	SERPINE1	serpin family E member 1	gene	DOID:850	lung disease		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		Ventilator-Induced Lung Injury; mRNA, protein:increased expression, increased activity:Bronchoalveolar Lavage Fluid, plasma	PMID:20110652|REF_RGD_ID:4143512
12076681	SERPINE1	serpin family E member 1	gene	DOID:850	lung disease	severity	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		acute lung injury; associated with Pulmonary Edema; protein:increased expression:lung, plasma	PMID:12730079|REF_RGD_ID:4144040
12076681	SERPINE1	serpin family E member 1	gene	DOID:863	nervous system disease		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
12076681	SERPINE1	serpin family E member 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:17032919|REF_RGD_ID:4144840
12076681	SERPINE1	serpin family E member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)	PMID:9201602|REF_RGD_ID:8547710
12076681	SERPINE1	serpin family E member 1	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)	PMID:12660488|REF_RGD_ID:8547699
12076681	SERPINE1	serpin family E member 1	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;repeat, snp:intron, 3' utr:g.7844(CA)1-6, ? (human)	PMID:7974340|REF_RGD_ID:8547740
12076681	SERPINE1	serpin family E member 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:deletion:promoter:g.-676_-674delG (human)	PMID:23281898|REF_RGD_ID:8547697
12076681	SERPINE1	serpin family E member 1	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp, deletion:promoter:g.-844G>A, g.-676_-674delG (human)	PMID:19419896|REF_RGD_ID:8547741
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000367	Multiple Trauma		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:26632604|REF_RGD_ID:11073720
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000613	Hyaline Membrane Disease		ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:8981909|REF_RGD_ID:4144850
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal skin (rat)	PMID:25794881|REF_RGD_ID:11075080
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Pneumonia, Pneumococcal;protein:increased expression:bronchoalveolar lavage fluid (rat)	PMID:18768578|REF_RGD_ID:11081010
12076681	SERPINE1	serpin family E member 1	gene	DOID:9000972	Fever	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):	PMID:23052617|REF_RGD_ID:13207414
12076681	SERPINE1	serpin family E member 1	gene	DOID:9001542	Albuminuria		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)	PMID:9201602|REF_RGD_ID:8547710
12076681	SERPINE1	serpin family E member 1	gene	DOID:9001642	Intestinal Polyps	treatment	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:18258607|REF_RGD_ID:13208598
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:16221712|REF_RGD_ID:13208600
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002055	Chronic Allograft Nephropathy	treatment	ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:18192922|REF_RGD_ID:13208601
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:12353078|REF_RGD_ID:8547901
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:renal glomerulus, mesangial cell (rat)	PMID:15322501|REF_RGD_ID:1580123
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associate with Diabetes Mellitus, Type 1;protein:increased expression:plasma (human)	PMID:10809802|REF_RGD_ID:8547711
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26712211|REF_RGD_ID:11073694
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Pre-Eclampsia;protein:increased expression:plasma,placenta:	PMID:8018914|REF_RGD_ID:13208595
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16172807
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneal fluid:	PMID:25530106|REF_RGD_ID:13208550
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002514	Neointima		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		human protein in rat model	PMID:19574558|REF_RGD_ID:8547913
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002514	Neointima	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:18091579|REF_RGD_ID:8547879
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:spinal cord, astrocyte:	PMID:11733372|REF_RGD_ID:13208549
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002906	Multiple Organ Failure	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:16977483|REF_RGD_ID:11081009
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina (mouse)	PMID:19443721|REF_RGD_ID:8547749
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	severity	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:19443721|REF_RGD_ID:8547749
12076681	SERPINE1	serpin family E member 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:11133880|REF_RGD_ID:13208592
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA, protein:increased expression:heart left ventricle (rat)	PMID:11961044|REF_RGD_ID:8547914
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:15604340|REF_RGD_ID:8547923
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with carcinoma, non-small-cell lung; protein:increased expression:lung	PMID:17207889|REF_RGD_ID:4144038
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003248	Central Serous Chorioretinopathy		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:10218712|REF_RGD_ID:8547738
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003248	Central Serous Chorioretinopathy		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:24446892|REF_RGD_ID:8547804
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003291	Aggressive Fibromatosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with  Adenomatous Polyposis Coli;DNA:polymorphism:promoter:rs1799768 (human)	PMID:17160433|REF_RGD_ID:13208596
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003379	Radiation Nephropathy	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:8995730|REF_RGD_ID:12880012
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003505	Venous Thromboembolism	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:g.-676_-674delG (human)	PMID:17549286|REF_RGD_ID:8547715
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003646	Arterial Thrombosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:26857113|REF_RGD_ID:11073687
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:69014	D	RGD:9068941	20200609	RGD			PMID:19587273|REF_RGD_ID:2316117
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003758	Banti's Syndrome	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:	PMID:18685811|REF_RGD_ID:10755472
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:deletion, haplotype:promoter:g.-676_-674delG (human)	PMID:22672326|REF_RGD_ID:8547731
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003841	Acquired Protein C Deficiency		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Sepsis;protein:increased activity:lung (rat)	PMID:18182560|REF_RGD_ID:11080962
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:9535178|REF_RGD_ID:8547875
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:femoral vein (rat)	PMID:26535698|REF_RGD_ID:11060966
12076681	SERPINE1	serpin family E member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter:g.-676_-674delG (human)	PMID:14653439|REF_RGD_ID:1580132
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004484	Sepsis		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Pneumonia; protein:increased expression:plasma	PMID:19753144|REF_RGD_ID:4144830
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:12000738|REF_RGD_ID:1598921
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic;mRNA:increased expression:lung (rat)	PMID:10745022|REF_RGD_ID:11080967
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:25934465|REF_RGD_ID:11075078
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:18182560|REF_RGD_ID:11080962
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs1799768 (human)	PMID:10909993|REF_RGD_ID:13208506
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004771	Vascular Remodeling	treatment	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:26856544|REF_RGD_ID:11073690
12076681	SERPINE1	serpin family E member 1	gene	DOID:9004874	Dermal Fibrosis	treatment	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:26414805|REF_RGD_ID:11343779
12076681	SERPINE1	serpin family E member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (mouse)	PMID:20630999|REF_RGD_ID:8547862
12076681	SERPINE1	serpin family E member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21757225
12076681	SERPINE1	serpin family E member 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:21396682|REF_RGD_ID:5147765
12076681	SERPINE1	serpin family E member 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:25396762|REF_RGD_ID:10449434
12076681	SERPINE1	serpin family E member 1	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa (human)	PMID:21711960|REF_RGD_ID:6483796
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006014	Peritoneal Adhesions		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneal fluid (rat)	PMID:26419644|REF_RGD_ID:11073723
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006014	Peritoneal Adhesions	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26790972|REF_RGD_ID:11073682
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006151	Choroidal Neovascularization, Experimental		ISO	RGD:11055	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (mouse)	PMID:12766088|REF_RGD_ID:8547735
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006151	Choroidal Neovascularization, Experimental		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:11292663|REF_RGD_ID:8547737
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006151	Choroidal Neovascularization, Experimental	severity	ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:12766088|REF_RGD_ID:8547735
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006151	Choroidal Neovascularization, Experimental	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26610445|REF_RGD_ID:11073722
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:carotid artery (rat)	PMID:25617690|REF_RGD_ID:11075082
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:11055	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26084260|REF_RGD_ID:11073736
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:11606484|REF_RGD_ID:11080966
12076681	SERPINE1	serpin family E member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with precursor lymphoblastic lymphoma/leukemia;DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:23183238|REF_RGD_ID:14696750
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:white adipose tissue (rat)	PMID:19776253|REF_RGD_ID:8547949
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26188590|REF_RGD_ID:11073726
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007752	Chronic Relapsing Experimental Autoimmune Encephalomyelitis		ISO	RGD:11055	D	RGD:9068941	20200609	RGD			PMID:17983428|REF_RGD_ID:13208507
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:12717359|REF_RGD_ID:11081012
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007783	Vascular Depression	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26286041|REF_RGD_ID:11073724
12076681	SERPINE1	serpin family E member 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:26958805|REF_RGD_ID:11073621
12076681	SERPINE1	serpin family E member 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:69014	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hemorrhage | ClinVar Annotator: match by term: bleeding	PMID:25741868
12076681	SERPINE1	serpin family E member 1	gene	DOID:9008217	Hemorrhage	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:9263399|REF_RGD_ID:11080960
12076681	SERPINE1	serpin family E member 1	gene	DOID:9008533	Plasminogen Activator Inhibitor-1 Deficiency		ISO	RGD:69014	D	RGD:7240710	20180130	OMIM			
12076681	SERPINE1	serpin family E member 1	gene	DOID:9008533	Plasminogen Activator Inhibitor-1 Deficiency		ISO	RGD:69014	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SERPINE1-related condition	PMID:12856128|PMID:15650551|PMID:17656673|PMID:25741868
12076681	SERPINE1	serpin family E member 1	gene	DOID:9008652	Postoperative Atrial Fibrillation		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:17846288|REF_RGD_ID:8547720
12076681	SERPINE1	serpin family E member 1	gene	DOID:9009023	Aortic Remodeling	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:26693246|REF_RGD_ID:11073698
12076681	SERPINE1	serpin family E member 1	gene	DOID:9120	amyloidosis	susceptibility	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		associated with Familial Mediterranean Fever;DNA: DNA:polymorphism:promoter:rs1799768 (human):	PMID:23052617|REF_RGD_ID:13207414
12076681	SERPINE1	serpin family E member 1	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:10910004|REF_RGD_ID:2312393
12076681	SERPINE1	serpin family E member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3249	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19706694|REF_RGD_ID:2316116
12076681	SERPINE1	serpin family E member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69014	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:8236167|REF_RGD_ID:8547723
12076681	SERPINE1	serpin family E member 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:69014	D	RGD:9068941	20200609	RGD		DNA:polymorphism:	PMID:16855181|REF_RGD_ID:1624959
12076681	SERPINE1	serpin family E member 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:3249	D	RGD:9068941	20200609	RGD			PMID:14614217|REF_RGD_ID:2312394
12076681	SERPINE1	serpin family E member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18641190|PMID:29684222
12076681	SERPINE1	serpin family E member 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:69014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary Embolism	
12076681	SERPINE1	serpin family E member 1	gene	DOID:9970	obesity		ISO	RGD:69014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23819014
12076700	CD2AP	CD2 associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:0080600	COVID-19		ISO	RGD:1347906	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12076700	CD2AP	CD2 associated protein	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532
12076700	CD2AP	CD2 associated protein	gene	DOID:0112245	focal segmental glomerulosclerosis 3		ISO	RGD:1347906	D	RGD:7240710	20180307	OMIM			
12076700	CD2AP	CD2 associated protein	gene	DOID:0112245	focal segmental glomerulosclerosis 3		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CD2AP-related condition | ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 3, susceptibility to	PMID:10514378|PMID:12764198|PMID:17713465|PMID:19131354|PMID:22971997|PMID:25741868|PMID:26467726|PMID:28492532|PMID:28658201|PMID:30406062|PMID:30612599|PMID:31027891|PMID:33712733|PMID:34408996|PMID:35325889
12076700	CD2AP	CD2 associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1347906	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:28492532
12076700	CD2AP	CD2 associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076700	CD2AP	CD2 associated protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1347906	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460840|PMID:21460841|PMID:30320580
12076700	CD2AP	CD2 associated protein	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1347906	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: inherited focal segmental glomerulosclerosis	PMID:18443213|PMID:25741868|PMID:28492532
12076700	CD2AP	CD2 associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076700	CD2AP	CD2 associated protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12076700	CD2AP	CD2 associated protein	gene	DOID:3070	high grade glioma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12076700	CD2AP	CD2 associated protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076700	CD2AP	CD2 associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076700	CD2AP	CD2 associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1347906	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076700	CD2AP	CD2 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:630	genetic disease		ISO	RGD:1347906	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12076700	CD2AP	CD2 associated protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12076700	CD2AP	CD2 associated protein	gene	DOID:783	end stage renal disease		ISO	RGD:1550249	D	RGD:9068941	20220825	MouseDO			
12076700	CD2AP	CD2 associated protein	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:727803	D	RGD:9068941	20200609	RGD			PMID:16088078|REF_RGD_ID:1581187
12076700	CD2AP	CD2 associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12076700	CD2AP	CD2 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076700	CD2AP	CD2 associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076700	CD2AP	CD2 associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1347906	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:1115	sarcoma		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:3275	thymoma		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1314135	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076722	SH3BGRL2	SH3 domain binding glutamate rich protein like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:0060058	lymphoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604011	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076730	ATAD2B	ATPase family AAA domain containing 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076764	ANKRD35	ankyrin repeat domain 35	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12076764	ANKRD35	ankyrin repeat domain 35	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:1324	lung cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:1909	melanoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076782	GSAP	gamma-secretase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076840	KIF15	kinesin family member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076840	KIF15	kinesin family member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076840	KIF15	kinesin family member 15	gene	DOID:0080600	COVID-19		ISO	RGD:1351410	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12076840	KIF15	kinesin family member 15	gene	DOID:10534	stomach cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076840	KIF15	kinesin family member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12076840	KIF15	kinesin family member 15	gene	DOID:1324	lung cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076840	KIF15	kinesin family member 15	gene	DOID:1909	melanoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076840	KIF15	kinesin family member 15	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1351410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12076840	KIF15	kinesin family member 15	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351410	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:35417304
12076840	KIF15	kinesin family member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076840	KIF15	kinesin family member 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12076840	KIF15	kinesin family member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1351410	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12076840	KIF15	kinesin family member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076840	KIF15	kinesin family member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076840	KIF15	kinesin family member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12076840	KIF15	kinesin family member 15	gene	DOID:9000152	Braddock-Carey Syndrome 2		ISO	RGD:1351410	D	RGD:7240710	20220810	OMIM			
12076840	KIF15	kinesin family member 15	gene	DOID:9000152	Braddock-Carey Syndrome 2		ISO	RGD:1351410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Braddock-carey syndrome 2	PMID:25741868
12076840	KIF15	kinesin family member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076840	KIF15	kinesin family member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076840	KIF15	kinesin family member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0060952	polycystic kidney disease 7		ISO	RGD:1318934	D	RGD:7240710	20221012	OMIM			
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:0060952	polycystic kidney disease 7		ISO	RGD:1318934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALG5-related disorder | ClinVar Annotator: match by term: POLYCYSTIC KIDNEY DISEASE 7 | ClinVar Annotator: match by term: Polycystic kidney disease 7	PMID:25741868|PMID:35896117|PMID:39081747
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1318934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076881	ALG5	ALG5 dolichyl-phosphate beta-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:0060058	lymphoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076898	TFB2M	transcription factor B2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076910	FLNA	filamin A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10982489|PMID:10982965|PMID:11532987|PMID:11914408|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19773341|PMID:20014127|PMID:20186808|PMID:20598277|PMID:20730588|PMID:20844545|PMID:21520333|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24098143|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28425981|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29024177|PMID:29168297|PMID:29706646|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30561107|PMID:30986657|PMID:31064749|PMID:32738303|PMID:33448881|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11748843|PMID:11914408|PMID:11968085|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28798025|PMID:28898549|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30293987|PMID:30561107|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31625567|PMID:31919883|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:3658675|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27457812|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35000503|PMID:36110220|PMID:3658675|PMID:6019437|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17190868|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30029678|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30476936|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30739908|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35660364|PMID:36110220|PMID:36372407|PMID:3658675|PMID:36734119|PMID:36937954|PMID:37175682|PMID:6019437|PMID:8230166|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Heterotopia, periventricular, with frontometaphyseal dysplasia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia	PMID:10480214|PMID:10982489|PMID:10982965|PMID:11532987|PMID:11704759|PMID:11748843|PMID:11914408|PMID:11968085|PMID:11992261|PMID:12410386|PMID:12612583|PMID:14988809|PMID:15194946|PMID:15523633|PMID:15668422|PMID:15689435|PMID:15864382|PMID:15917206|PMID:15994863|PMID:16080119|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16427346|PMID:16538226|PMID:16596676|PMID:16601897|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17152064|PMID:17190868|PMID:17264970|PMID:17546640|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:18854860|PMID:19006219|PMID:19377476|PMID:19396829|PMID:19773341|PMID:19846429|PMID:20014127|PMID:20186808|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20871226|PMID:20979190|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22281021|PMID:22366253|PMID:22382802|PMID:22465605|PMID:22522697|PMID:23032111|PMID:23409742|PMID:23660394|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:24365856|PMID:24962355|PMID:25167861|PMID:25326637|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:25817843|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:28953922|PMID:28983057|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29334594|PMID:29650765|PMID:29706646|PMID:29720203|PMID:29738522|PMID:30029678|PMID:30089473|PMID:30115950|PMID:30143558|PMID:30224736|PMID:30293987|PMID:30476936|PMID:30561107|PMID:30675029|PMID:30712057|PMID:30739908|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31919883|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33994118|PMID:34858435|PMID:35660364|PMID:36110220|PMID:36372407|PMID:3658675|PMID:36734119|PMID:36937954|PMID:37175682|PMID:6019437|PMID:8230166|PMID:8290091|PMID:9071288|PMID:9384614|PMID:9536098|PMID:9800904|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR NODULAR, 1 | ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia | ClinVar Annotator: match by term: periventricular nodular heterotopia	PMID:10982489|PMID:11532987|PMID:11914408|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25686753|PMID:25741868|PMID:25755106|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29706646|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30224736|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32233023|PMID:32410215|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33942430|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HETEROTOPIA, PERIVENTRICULAR NODULAR, 1 | ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Periventricular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia 1 | ClinVar Annotator: match by term: X-linked periventricular heterotopia | ClinVar Annotator: match by term: periventricular nodular heterotopia	PMID:10982489|PMID:11532987|PMID:11914408|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:25755106|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29706646|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30224736|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33942430|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076910	FLNA	filamin A	gene	DOID:0060260	ptosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12076910	FLNA	filamin A	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:0060889	prune belly syndrome		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prune belly syndrome	
12076910	FLNA	filamin A	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction	
12076910	FLNA	filamin A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354471	D	RGD:9068941	20250904	CTD		CTD Direct Evidence: marker/mechanism	PMID:37740811
12076910	FLNA	filamin A	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
12076910	FLNA	filamin A	gene	DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0080681	X-linked chronic idiopathic intestinal pseudo-obstruction		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital idiopathic intestinal pseudoobstruction | ClinVar Annotator: match by term: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301392|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:33924653|PMID:35660364|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0080918	polymicrogyria		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
12076910	FLNA	filamin A	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Salih Myopathy	PMID:25326637|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:0090020	split hand-foot malformation		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectrodactyly	PMID:26404489|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10	PMID:25326637|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12076910	FLNA	filamin A	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532|PMID:35660364
12076910	FLNA	filamin A	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:25741868|PMID:28492532|PMID:35660364
12076910	FLNA	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIAC VALVULAR DYSPLASIA, X-LINKED | ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked | ClinVar Annotator: match by term: Myxomatous valvular dystrophy, X-linked | ClinVar Annotator: match by term: VALVULAR HEART DISEASE, CONGENITAL	PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:16875750|PMID:17190868|PMID:17576681|PMID:18414213|PMID:19006219|PMID:20301567|PMID:22522697|PMID:24088041|PMID:24200678|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26686323|PMID:26804200|PMID:28492532|PMID:29020406|PMID:29168297|PMID:29237676|PMID:30089473|PMID:33924653|PMID:35660364|PMID:37586840|PMID:37745857|PMID:39704215|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0111782	otopalatodigital syndrome spectrum disorder		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OTOPALATODIGITAL SPECTRUM DISORDER	
12076910	FLNA	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0111783	otopalatodigital syndrome type 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OPD SYNDROME 1 | ClinVar Annotator: match by term: OPD syndrome 1 | ClinVar Annotator: match by term: OTOPALATODIGITAL SYNDROME, TYPE I | ClinVar Annotator: match by term: Oto-palato-digital syndrome, type I | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type I	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301567|PMID:22522697|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30089473|PMID:33924653|PMID:35660364|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Faciopalatoosseous syndrome | ClinVar Annotator: match by term: OPD II SYNDROME | ClinVar Annotator: match by term: OTOPALATODIGITAL SYNDROME, TYPE II | ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:20301567|PMID:20598277|PMID:20730588|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:28133863|PMID:28428218|PMID:28492532|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:33057194|PMID:34277511|PMID:35478072|PMID:35613087|PMID:35982159|PMID:36830778|PMID:38539105|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Frontometaphyseal dysplasia	PMID:10982489|PMID:12612583|PMID:15523633|PMID:15668422|PMID:16199547|PMID:16299064|PMID:16303888|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21031081|PMID:21520333|PMID:21620354|PMID:21821884|PMID:21836662|PMID:21960593|PMID:22366253|PMID:22522697|PMID:23032111|PMID:23873601|PMID:24088041|PMID:24098143|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25686753|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28411558|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28660794|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29024177|PMID:29168297|PMID:29575627|PMID:29720203|PMID:29738522|PMID:30003023|PMID:30089473|PMID:30115950|PMID:30391507|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32592953|PMID:3265608|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:33994118|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36372407|PMID:36830778|PMID:38539105|PMID:38958128|PMID:38958168|PMID:6019437|PMID:9536098|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0111786	frontometaphyseal dysplasia 1		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0111786	frontometaphyseal dysplasia 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FRONTOMETAPHYSEAL DYSPLASIA 1 | ClinVar Annotator: match by term: Frontometaphyseal dysplasia 1	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16417552|PMID:16596676|PMID:16822260|PMID:16835913|PMID:17576681|PMID:18414213|PMID:22522697|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28492532|PMID:30089473|PMID:33924653|PMID:34277511|PMID:35660364|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:0111788	Melnick-Needles syndrome		ISO	RGD:1354471	D	RGD:7240710	20200408	OMIM			
12076910	FLNA	filamin A	gene	DOID:0111788	Melnick-Needles syndrome		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melnick-Needles osteodysplasty | ClinVar Annotator: match by term: Melnick-Needles syndrome | ClinVar Annotator: match by term: OSTEODYSPLASTY OF MELNICK AND NEEDLES | ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16199547|PMID:16299064|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20955932|PMID:21620354|PMID:21836662|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26188975|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27091362|PMID:27193221|PMID:27724990|PMID:28051071|PMID:28133863|PMID:28428218|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29575627|PMID:29720203|PMID:30003023|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:32738303|PMID:33057194|PMID:33448881|PMID:33924653|PMID:34277511|PMID:34863227|PMID:35058154|PMID:35478072|PMID:35613087|PMID:35660364|PMID:35982159|PMID:36110220|PMID:36830778|PMID:38539105|PMID:9536098|PMID:9883725
12076910	FLNA	filamin A	gene	DOID:0112149	terminal osseous dysplasia		ISO	RGD:1354471	D	RGD:7240710	20180130	OMIM			
12076910	FLNA	filamin A	gene	DOID:0112149	terminal osseous dysplasia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ODPF SYNDROME | ClinVar Annotator: match by term: TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS | ClinVar Annotator: match by term: Terminal osseous dysplasia-pigmentary defects syndrome	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:18414213|PMID:20301567|PMID:20598277|PMID:22522697|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26467025|PMID:28492532|PMID:30561107|PMID:31919883|PMID:33924653|PMID:35660364|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:1059	intellectual disability		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:10629	microphthalmia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:10907	microcephaly		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12076910	FLNA	filamin A	gene	DOID:11111	hydronephrosis		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1115	sarcoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076910	FLNA	filamin A	gene	DOID:11383	cryptorchidism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12076910	FLNA	filamin A	gene	DOID:11830	myopia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
12076910	FLNA	filamin A	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:12849	autistic disorder		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1324	lung cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12076910	FLNA	filamin A	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ehlers Danlos Syndrome | ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:13515	tuberous sclerosis		ISO	RGD:1354471	D	RGD:9068941	20200609	RGD		protein:increased expression:prefrontal cortex (human)	PMID:25277454|REF_RGD_ID:11565117
12076910	FLNA	filamin A	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:12612583|PMID:15523633|PMID:16596676|PMID:16835913|PMID:18414213|PMID:25741868|PMID:27193221|PMID:28492532|PMID:30089473|PMID:34277511
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31942422|PMID:32410215|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11704759|PMID:11992261|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16538226|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20979190|PMID:21320118|PMID:22076441|PMID:22465605|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:30089473|PMID:30143558|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33448881|PMID:34858435|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28798025|PMID:29168297|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:35000503|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16684786|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:29720203|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37175682|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15917206|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:1854572|PMID:18805826|PMID:19377476|PMID:20301567|PMID:20598277|PMID:20844545|PMID:20979190|PMID:21320118|PMID:21836662|PMID:22076441|PMID:22465605|PMID:22522697|PMID:22740120|PMID:23032111|PMID:23487190|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29237676|PMID:29720203|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30391507|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:34863227|PMID:36110220|PMID:36734119|PMID:37745857|PMID:39825153|PMID:6019437|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16299064|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30293987|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33077954|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12612583|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:20598277|PMID:21836662|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32410215|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19377476|PMID:19506109|PMID:21836662|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30986657|PMID:31069529|PMID:31625567|PMID:32085749|PMID:32738303|PMID:33448881|PMID:33924653|PMID:35058154|PMID:35613087|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:14323	Marfan syndrome		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:14711	FG syndrome		ISO	RGD:1354471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632775
12076910	FLNA	filamin A	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	
12076910	FLNA	filamin A	gene	DOID:1588	thrombocytopenia		ISO	RGD:1354471	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1612	breast cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1354471	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1682	congenital heart disease		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:1824	status epilepticus		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
12076910	FLNA	filamin A	gene	DOID:1826	epilepsy		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:16299064|PMID:16684786|PMID:16875750|PMID:18414213|PMID:20301567|PMID:20730588|PMID:25741868|PMID:26471271|PMID:28492532|PMID:30089473|PMID:31625567|PMID:35613087
12076910	FLNA	filamin A	gene	DOID:1829	urethral stricture		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urethral stricture	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:1909	melanoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076910	FLNA	filamin A	gene	DOID:1923	disorder of sexual development		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:2030	anxiety disorder		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612583
12076910	FLNA	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:9068941	20200609	RGD		Melnick-Needles syndrome;DNA:missense mutations:cds:p.A1188T, p.S1199L (human)	PMID:12612583|REF_RGD_ID:1598954
12076910	FLNA	filamin A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1354471	D	RGD:9068941	20200609	RGD		associated with Periventricular Nodular Heterotopia;DNA:missense mutation:cds:p.G208R (human)	PMID:25755106|REF_RGD_ID:11565455
12076910	FLNA	filamin A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12076910	FLNA	filamin A	gene	DOID:2340	craniosynostosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:2841	asthma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:3087	gingivitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:3275	thymoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12076910	FLNA	filamin A	gene	DOID:348	blepharochalasis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharochalasis	
12076910	FLNA	filamin A	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
12076910	FLNA	filamin A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12076910	FLNA	filamin A	gene	DOID:4362	cervical cancer		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:28492532|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:540	strabismus		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12076910	FLNA	filamin A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12076910	FLNA	filamin A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1354471	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076910	FLNA	filamin A	gene	DOID:630	genetic disease		ISO	RGD:1354471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26404489|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:23032111|PMID:25741868
12076910	FLNA	filamin A	gene	DOID:65	connective tissue disease		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:18414213|PMID:21836662|PMID:25741868|PMID:26467025|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:674	cleft palate		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:26404489|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:687	hepatoblastoma		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1354471	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Microcephaly, normal intelligence and immunodeficiency	PMID:18414213|PMID:25677497|PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	
12076910	FLNA	filamin A	gene	DOID:7998	hyperthyroidism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:824	periodontitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:8488	polyhydramnios		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:8577	ulcerative colitis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ulcerative colitis	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9000058	Keloid		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid | ClinVar Annotator: match by term: Keloid formation	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9001224	Striae Distensae		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
12076910	FLNA	filamin A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12076910	FLNA	filamin A	gene	DOID:9001581	Constipation		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12076910	FLNA	filamin A	gene	DOID:9001733	Tinnitus		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12076910	FLNA	filamin A	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9002387	FG Syndrome 2		ISO	RGD:1354471	D	RGD:7240710	20200226	OMIM			
12076910	FLNA	filamin A	gene	DOID:9002387	FG Syndrome 2		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FG syndrome 2	PMID:10982489|PMID:12612583|PMID:16417552|PMID:16822260|PMID:17576681|PMID:17632775|PMID:18414213|PMID:22522697|PMID:25167861|PMID:25741868|PMID:26467025|PMID:28133863|PMID:28492532|PMID:29720203|PMID:30089473|PMID:30986657|PMID:33924653|PMID:35660364|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12076910	FLNA	filamin A	gene	DOID:9003507	Premature Birth		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:26404489|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9003539	Hyperacusis		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9003646	Arterial Thrombosis		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arterial thrombosis	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9003669	Low Back Pain		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low back pain	
12076910	FLNA	filamin A	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:16299064|PMID:16875750|PMID:20301567|PMID:25741868|PMID:28492532|PMID:30089473
12076910	FLNA	filamin A	gene	DOID:9004240	Phyllodes Tumor		ISO	RGD:1354471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
12076910	FLNA	filamin A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9004866	Ataxia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9005077	Joint Instability		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:17576681|PMID:23032111|PMID:25741868|PMID:28492532|PMID:29024177|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9005082	Periventricular Nodular Heterotopia 4		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4	PMID:10982489|PMID:12612583|PMID:15523633|PMID:16417552|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:17190868|PMID:17576681|PMID:17632775|PMID:18414213|PMID:19006219|PMID:19377476|PMID:19506109|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:21620354|PMID:22522697|PMID:23873601|PMID:24088041|PMID:24200678|PMID:25167861|PMID:25614868|PMID:25649377|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26404489|PMID:26467025|PMID:26471271|PMID:26633545|PMID:26686323|PMID:26804200|PMID:27193221|PMID:28133863|PMID:28428218|PMID:28492532|PMID:28898549|PMID:29020406|PMID:29168297|PMID:29720203|PMID:30089473|PMID:30561107|PMID:30986657|PMID:31625567|PMID:31694657|PMID:31919883|PMID:32085749|PMID:32233023|PMID:33057194|PMID:34277511|PMID:35478072|PMID:35613087|PMID:35982159|PMID:36830778|PMID:38539105|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1354471	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cranio-oro-digital syndrome	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21836662|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25326637|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9005190	Juberg-Hayward Syndrome		ISO	RGD:1354471	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate with abnormal thumbs and microcephaly | ClinVar Annotator: match by term: Cranio-oro-digital syndrome	PMID:10982489|PMID:11532987|PMID:11704759|PMID:11992261|PMID:12410386|PMID:12612583|PMID:15194946|PMID:15523633|PMID:15689435|PMID:15917206|PMID:16080119|PMID:16299064|PMID:16417552|PMID:16538226|PMID:16596676|PMID:16684786|PMID:16822260|PMID:16835913|PMID:16875750|PMID:17264970|PMID:17431908|PMID:17576681|PMID:17632775|PMID:18414213|PMID:18805826|PMID:19377476|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:20844545|PMID:20979190|PMID:21620354|PMID:21960593|PMID:22465605|PMID:22522697|PMID:25167861|PMID:25649377|PMID:25741868|PMID:26467025|PMID:26471271|PMID:27193221|PMID:27724990|PMID:28133863|PMID:28454995|PMID:28492532|PMID:28659821|PMID:28798025|PMID:29168297|PMID:29720203|PMID:30029678|PMID:30089473|PMID:30143558|PMID:30293987|PMID:30476936|PMID:30675029|PMID:30712057|PMID:30755392|PMID:30986657|PMID:31064749|PMID:31069529|PMID:31625567|PMID:31942422|PMID:32410215|PMID:3265608|PMID:32738303|PMID:33077954|PMID:33448881|PMID:34858435|PMID:36110220|PMID:36734119|PMID:37175682|PMID:6019437|PMID:9071288|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9005315	Laterality Defects, Autosomal Dominant		ISO	RGD:1354471	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Laterality defects, autosomal dominant	
12076910	FLNA	filamin A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354471	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9005616	Micrognathism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:26404489|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9006617	Fatigue		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12076910	FLNA	filamin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:16299064|PMID:16684786|PMID:16875750|PMID:17576681|PMID:19773341|PMID:20301567|PMID:20598277|PMID:20730588|PMID:25614868|PMID:25741868|PMID:26059211|PMID:26061098|PMID:26471271|PMID:28492532|PMID:30089473|PMID:30561107|PMID:31919883|PMID:9536098
12076910	FLNA	filamin A	gene	DOID:9007573	Flatfoot		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12076910	FLNA	filamin A	gene	DOID:9007661	Dwarfism		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9007736	Vertigo		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:36937954
12076910	FLNA	filamin A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1354471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437033
12076910	FLNA	filamin A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076910	FLNA	filamin A	gene	DOID:9009005	Familial Thoracic Aortic Aneurysm 2		ISO	RGD:1354471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 2	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12076910	FLNA	filamin A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
12076910	FLNA	filamin A	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	
12076910	FLNA	filamin A	gene	DOID:9834	hyperopia		ISO	RGD:1354471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12076910	FLNA	filamin A	gene	DOID:988	mitral valve prolapse		ISO	RGD:1354471	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G288R (human)	PMID:24243761|REF_RGD_ID:11565119
12076962	TCF7	transcription factor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12076962	TCF7	transcription factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076962	TCF7	transcription factor 7	gene	DOID:0060058	lymphoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12076962	TCF7	transcription factor 7	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1314197	D	RGD:9068941	20200609	RGD			PMID:28220803|REF_RGD_ID:13506820
12076962	TCF7	transcription factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12076962	TCF7	transcription factor 7	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1314197	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
12076962	TCF7	transcription factor 7	gene	DOID:1909	melanoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12076962	TCF7	transcription factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076962	TCF7	transcription factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076962	TCF7	transcription factor 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12076962	TCF7	transcription factor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12076962	TCF7	transcription factor 7	gene	DOID:8778	Crohn's disease		ISO	RGD:1314197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24994854
12076962	TCF7	transcription factor 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698291	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868
12076962	TCF7	transcription factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076962	TCF7	transcription factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12076962	TCF7	transcription factor 7	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0050486	exanthem		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0060249	scoliosis		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0080006	bone development disease		ISO	RGD:1323571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19759027
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1323571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:11112658|PMID:18946009|PMID:24502542|PMID:25792522|PMID:28492532|PMID:30143558|PMID:30541476
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1323571	D	RGD:7240710	20180130	OMIM			
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SUGIO-KAJII SYNDROME | ClinVar Annotator: match by term: Sugio-Kajii Syndrome | ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE III | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III	PMID:11112658|PMID:11807863|PMID:14560312|PMID:16199547|PMID:18946009|PMID:22964620|PMID:23451857|PMID:23621477|PMID:24502542|PMID:25741868|PMID:25792522|PMID:27826100|PMID:28050602|PMID:28492532|PMID:30143558|PMID:30541476
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:10907	microcephaly		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:11830	myopia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:11836	clubfoot		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1323571	D	RGD:7240710	20180130	OMIM			
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sugio-Kajii Syndrome | ClinVar Annotator: match by term: TRICHORHINOPHALANGEAL SYNDROME, TYPE I | ClinVar Annotator: match by term: TRPS1-related disorder | ClinVar Annotator: match by term: Trichorhinophalangeal Syndrome Type I | ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I	PMID:10615131|PMID:11112658|PMID:11807863|PMID:11950061|PMID:14560312|PMID:15367484|PMID:16199547|PMID:17576681|PMID:17854380|PMID:18946009|PMID:19694891|PMID:20394624|PMID:21850686|PMID:22964620|PMID:23293878|PMID:23451857|PMID:23572024|PMID:23621477|PMID:23691375|PMID:24357341|PMID:24502542|PMID:24945424|PMID:25741868|PMID:25792522|PMID:26113321|PMID:26380986|PMID:26540763|PMID:27826100|PMID:28050602|PMID:28244134|PMID:28492532|PMID:29095814|PMID:29499646|PMID:30143558|PMID:30458885|PMID:30541476|PMID:30914275|PMID:31884116|PMID:32844440|PMID:33073934|PMID:8209886|PMID:9536098
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:1826	epilepsy		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323571	D	RGD:9068941	20200609	RGD		trichorhinophalangeal syndrome type I, OMIM:190350	PMID:10615131|REF_RGD_ID:1599670
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:305	carcinoma		ISO	RGD:1323571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:4998	trichorhinophalangeal syndrome type II		ISO	RGD:1323571	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Langer-Giedion syndrome | ClinVar Annotator: match by term: Trichorhinophalangeal syndrome type II	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:630	genetic disease		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11112658|PMID:23621477|PMID:25741868|PMID:25792522|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9000073	Metaphyseal Chondrodysplasia		ISO	RGD:1323571	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: metaphyseal chondrodysplasia	PMID:25741868|PMID:25792522|PMID:28426188|PMID:28492532|PMID:31502745
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1323571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24648374|PMID:28004029|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1323571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9005517	Trichorhinophalangeal Syndrome		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichorhinophalangeal syndrome	PMID:25741868
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:26113321
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1323571	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1323571	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11708946|PMID:19759027
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:9834	hyperopia		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11112658|PMID:22964620|PMID:23451857|PMID:25741868|PMID:25792522|PMID:28050602|PMID:28492532
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:986	alopecia areata		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia areata	PMID:11112658|PMID:18946009|PMID:24502542|PMID:25741868|PMID:25792522|PMID:28468609|PMID:28492532|PMID:30541476
12076975	TRPS1	transcriptional repressor GATA binding 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1323571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:1115	sarcoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:1909	melanoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:9002669	Hypoxia		ISO	RGD:1305391	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:hippocampus (rat)	PMID:24893663|REF_RGD_ID:9590077
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077010	NAP1L4	nucleosome assembly protein 1 like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321639	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0080006	bone development disease		ISO	RGD:1321639	D	RGD:9068941	20200609	RGD		familial expansile osteolysis, OMIM:174810	PMID:10615125|REF_RGD_ID:1599463
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:1321639	D	RGD:7240710	20190327	OMIM			
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PAGET DISEASE OF BONE 2, EARLY-ONSET | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset	PMID:10615125|PMID:21472776|PMID:25741868|PMID:28492532|PMID:31923705
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0110946	autosomal recessive osteopetrosis 7		ISO	RGD:1321639	D	RGD:7240710	20180130	OMIM			
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0110946	autosomal recessive osteopetrosis 7		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36597107|PMID:37076969|PMID:9536098
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0111542	familial expansile osteolysis		ISO	RGD:1321639	D	RGD:7240710	20180130	OMIM			
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:0111542	familial expansile osteolysis		ISO	RGD:1321639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAMILIAL EXPANSILE OSTEOLYSIS | ClinVar Annotator: match by term: Familial expansile osteolysis	PMID:10615125|PMID:12568416|PMID:17447113|PMID:21472776|PMID:25741868|PMID:28492532
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:10534	stomach cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1321639	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:1059	intellectual disability		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:1115	sarcoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:11476	osteoporosis		ISO	RGD:1321639	D	RGD:9068941	20200609	RGD			PMID:17002564|REF_RGD_ID:1625350
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:1324	lung cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321639	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436471
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321639	D	RGD:9068941	20260604	RGD		Paget disease of bone, OMIM:602080	PMID:10615125|REF_RGD_ID:1599463
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321640	D	RGD:9068941	20260604	MouseDO		OMIM:167250 | OMIM:602080 | OMIM:606263	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:630	genetic disease		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:820	myocarditis		ISO	RGD:1563614	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium	PMID:18417124|REF_RGD_ID:2302361
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:1563614	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321639	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:increased expression:bone, lymph node	PMID:16752412|REF_RGD_ID:2302322
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9001547	Tibial Fractures		ISO	RGD:1563614	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18592139|REF_RGD_ID:2302324
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1321639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16270354
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321640	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18317887|REF_RGD_ID:2291908
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9005372	Inflammation		ISO	RGD:1321639	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;mRNA:increased expression:breast	PMID:18248671|REF_RGD_ID:2302321
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077036	TNFRSF11A	TNF receptor superfamily member 11a	gene	DOID:9256	colorectal cancer		ISO	RGD:1321639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12077049	DAND5	DAN domain BMP antagonist family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342724	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077049	DAND5	DAN domain BMP antagonist family member 5	gene	DOID:0051027	visceral heterotaxy 13		ISO	RGD:1342724	D	RGD:7240710	20250205	OMIM			
12077049	DAND5	DAN domain BMP antagonist family member 5	gene	DOID:0051027	visceral heterotaxy 13		ISO	RGD:1342724	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 13, AUTOSOMAL	PMID:25741868
12077049	DAND5	DAN domain BMP antagonist family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077055	ZNF619	zinc finger protein 619	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077055	ZNF619	zinc finger protein 619	gene	DOID:1115	sarcoma		ISO	RGD:1354066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077055	ZNF619	zinc finger protein 619	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077055	ZNF619	zinc finger protein 619	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12077055	ZNF619	zinc finger protein 619	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077078	SLC18A1	solute carrier family 18 member A1	gene	DOID:14175	von Hippel-Lindau disease		ISO	RGD:737319	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:16189177|REF_RGD_ID:5131200
12077078	SLC18A1	solute carrier family 18 member A1	gene	DOID:2394	ovarian cancer		ISO	RGD:737319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12077078	SLC18A1	solute carrier family 18 member A1	gene	DOID:3312	bipolar disorder		ISO	RGD:737319	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' utr, cds:g.-584A>G (rs988713), p.T136I (rs1390938) (human)	PMID:16936705|REF_RGD_ID:5131197
12077078	SLC18A1	solute carrier family 18 member A1	gene	DOID:5419	schizophrenia		ISO	RGD:737319	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.T4P (human)	PMID:18451639|REF_RGD_ID:5131198
12077078	SLC18A1	solute carrier family 18 member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077110	BCL9L	BCL9 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077110	BCL9L	BCL9 like	gene	DOID:10534	stomach cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077110	BCL9L	BCL9 like	gene	DOID:1324	lung cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077110	BCL9L	BCL9 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077110	BCL9L	BCL9 like	gene	DOID:4362	cervical cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077110	BCL9L	BCL9 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077110	BCL9L	BCL9 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077110	BCL9L	BCL9 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12077110	BCL9L	BCL9 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353529	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1353529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077124	ST3GAL4	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1350867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12077141	ISOC2	isochorismatase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077159	PRRG4	proline rich and Gla domain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346309	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077159	PRRG4	proline rich and Gla domain 4	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1346309	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12077159	PRRG4	proline rich and Gla domain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077159	PRRG4	proline rich and Gla domain 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1346309	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1350727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27238081
12077172	TRIM24	tripartite motif containing 24	gene	DOID:10534	stomach cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:1115	sarcoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:1324	lung cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:1909	melanoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:2394	ovarian cancer		ISO	RGD:1350727	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12077172	TRIM24	tripartite motif containing 24	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:4362	cervical cancer		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1350727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18026104
12077172	TRIM24	tripartite motif containing 24	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12077172	TRIM24	tripartite motif containing 24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077172	TRIM24	tripartite motif containing 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0050453	lissencephaly		ISO	RGD:1607082	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly	PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:22408144|PMID:24510153|PMID:24860126|PMID:25741868|PMID:26350204|PMID:26663670|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0050453	lissencephaly		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Isolated Lissencephaly Sequence | ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Pachygyria | ClinVar Annotator: match by term: lissencephaly	PMID:18414213|PMID:25741868|PMID:28454995|PMID:28492532|PMID:29671837|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:25741868|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0060260	ptosis		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0070297	primary microcephaly		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0080143	congenital fibrosis of the extraocular muscles		ISO	RGD:1607082	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital fibrosis of extraocular muscles	PMID:20466733|PMID:25741868|PMID:30517687|PMID:31269740|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia	PMID:18414213|PMID:20466733|PMID:25131622|PMID:25741868|PMID:26663670|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1607082	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:23361065|PMID:27129203|PMID:28492532
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0111169	subcortical band heterotopia		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subcortical band heterotopia	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0112227	tubulinopathy		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tubulinopathy	PMID:18414213|PMID:20466733|PMID:21403111|PMID:22948023|PMID:23317684|PMID:24088041|PMID:24860126|PMID:25131622|PMID:25666757|PMID:25741868|PMID:26633545|PMID:26663670|PMID:28492532|PMID:28677066|PMID:28973083|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:31833200|PMID:32581362|PMID:32989326|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1607082	D	RGD:7240710	20190710	OMIM			
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lissencephaly 3 | ClinVar Annotator: match by term: Lissencephaly due to TUBA1A mutation | ClinVar Annotator: match by term: Lissencephaly type 3 | ClinVar Annotator: match by term: TUBA1A-associated tubulinopathy | ClinVar Annotator: match by term: TUBA1A-related condition | ClinVar Annotator: match by term: Tubulinopathies | ClinVar Annotator: match by term: Tubulinopathy-associated dysgyria	PMID:17218254|PMID:17584854|PMID:18199681|PMID:18414213|PMID:18669490|PMID:18728072|PMID:18954413|PMID:20466733|PMID:20603323|PMID:22408144|PMID:22495306|PMID:22948023|PMID:23317684|PMID:23361065|PMID:24088041|PMID:24510153|PMID:24860126|PMID:25059107|PMID:25131622|PMID:25140959|PMID:25326637|PMID:25363768|PMID:25666757|PMID:25741868|PMID:26130693|PMID:26350204|PMID:26467025|PMID:26493046|PMID:26633545|PMID:26663670|PMID:27129203|PMID:27431206|PMID:28407358|PMID:28492532|PMID:28677066|PMID:28714951|PMID:28973083|PMID:29158550|PMID:29671837|PMID:29706646|PMID:29758562|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:31833200|PMID:32149430|PMID:32581362|PMID:32989326|PMID:33604570|PMID:33649541|PMID:34246755|PMID:34906502|PMID:34946966|PMID:35017693|PMID:35229910|PMID:35511030|PMID:36403095|PMID:36658419
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:0112237	lissencephaly 1		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subcortical band heterotopia	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:10534	stomach cancer		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1059	intellectual disability		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:27129203|PMID:28492532
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1059	intellectual disability		ISO	RGD:1607082	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23361065|PMID:25741868|PMID:27129203|PMID:28492532
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1059	intellectual disability		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23361065|PMID:25741868|PMID:27129203|PMID:28492532|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:10907	microcephaly		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:20466733|PMID:22948023|PMID:23317684|PMID:23361065|PMID:25131622|PMID:25741868|PMID:26663670|PMID:27129203|PMID:28492532|PMID:28677066|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:31833200|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:10908	hydrocephalus		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:12849	autistic disorder		ISO	RGD:1607082	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:18414213|PMID:20466733|PMID:23361065|PMID:25131622|PMID:25741868|PMID:26663670|PMID:27129203|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:14250	Down syndrome		ISO	RGD:1607082	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:21262400|REF_RGD_ID:12859084
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1657	ventricular septal defect		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1826	epilepsy		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:20466733|PMID:25131622|PMID:25741868|PMID:26663670|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:31833200|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:1969	cerebral palsy		ISO	RGD:1607082	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24860126|PMID:25666757|PMID:25741868|PMID:28492532|PMID:30744660|PMID:32989326
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:2234	focal epilepsy		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:20466733|PMID:22948023|PMID:23317684|PMID:25741868|PMID:28492532|PMID:28677066|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1607082	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation | ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:20466733|PMID:22948023|PMID:23317684|PMID:25741868|PMID:28492532|PMID:28677066|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:4260	gait apraxia		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait apraxia	PMID:25741868
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:4362	cervical cancer		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:540	strabismus		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23361065|PMID:25741868|PMID:27129203|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:5723	optic atrophy		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:630	genetic disease		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:19344873|PMID:20466733|PMID:23361065|PMID:24860126|PMID:25131622|PMID:25666757|PMID:25741868|PMID:25956360|PMID:26493046|PMID:26663670|PMID:27129203|PMID:28492532|PMID:28677066|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:32989326|PMID:3316988|PMID:33604570|PMID:35017693|PMID:35404502
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20466733|PMID:25741868|PMID:30517687|PMID:31269740|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:8927	learning disability		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9001031	Retrognathia		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:20466733|PMID:22948023|PMID:23317684|PMID:25741868|PMID:28492532|PMID:28677066|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum | ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:20466733|PMID:25741868|PMID:28492532|PMID:30744660|PMID:31474318|PMID:31628766|PMID:33077954
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:18414213|PMID:20466733|PMID:25131622|PMID:25741868|PMID:26663670|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:18414213|PMID:20466733|PMID:25131622|PMID:25741868|PMID:26663670|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1607082	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:25741868|PMID:28492532|PMID:35229910
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17218254|PMID:17584854|PMID:18199681|PMID:18728072|PMID:20466733|PMID:24860126|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660|PMID:31833200|PMID:33649541|PMID:34946966
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607082	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:17218254|PMID:18199681|PMID:18728072|PMID:20466733|PMID:24860126|PMID:25741868|PMID:26663670|PMID:28492532|PMID:29671837|PMID:30517687|PMID:30744660|PMID:33649541|PMID:34946966
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9005616	Micrognathism		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:20466733|PMID:24860126|PMID:25741868|PMID:29907476|PMID:30517687|PMID:30744660|PMID:32005694|PMID:33528536|PMID:33649541|PMID:3680207|PMID:6945576
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868|PMID:33649541
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1607082	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1607082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1607082	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25741868|PMID:28492532|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:20466733|PMID:23361065|PMID:25131622|PMID:25741868|PMID:26663670|PMID:27129203|PMID:28492532|PMID:30087272|PMID:30517687|PMID:30744660|PMID:31696992|PMID:31833200|PMID:32581362|PMID:33604570|PMID:35017693
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9008617	Lethargy		ISO	RGD:1607082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:930	orbital disease		ISO	RGD:1607082	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:20466733|PMID:22948023|PMID:23317684|PMID:25741868|PMID:28492532|PMID:28677066|PMID:30744660
12077197	LOC610636	tubulin alpha-1B chain	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1607082	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:30744660|PMID:31833200|PMID:33649541
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:3021	acute kidney failure		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23052191
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:5844	myocardial infarction		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20082609
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:9000669	Ventricular Dysfunction, Right	ameliorates	ISO	RGD:1550230	D	RGD:9068941	20241219	RGD			PMID:23325387|REF_RGD_ID:596933101
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12077205	TNFRSF12A	TNF receptor superfamily member 12A	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:631329	D	RGD:9068941	20241219	RGD		mRNA:increased expression:right ventricle	PMID:23325387|REF_RGD_ID:596933101
12077213	BCAS4	breast carcinoma amplified sequence 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077213	BCAS4	breast carcinoma amplified sequence 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077213	BCAS4	breast carcinoma amplified sequence 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077213	BCAS4	breast carcinoma amplified sequence 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28414304
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:68535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
12077230	CTBP2	C-terminal binding protein 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68535	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28414304
12077263	MIR196B	microRNA mir-196b	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1350479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12077263	MIR196B	microRNA mir-196b	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1350479	D	RGD:9068941	20220825	RGD		human cells in mouse model;RNA:decreased expression:colon,exosome (human)	PMID:28211508|REF_RGD_ID:153344546
12077263	MIR196B	microRNA mir-196b	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1350479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12077263	MIR196B	microRNA mir-196b	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1350479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12077266	MIRLET7E	microRNA let-7e	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12077266	MIRLET7E	microRNA let-7e	gene	DOID:9256	colorectal cancer		ISO	RGD:1352382	D	RGD:9068941	20220811	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1558463	D	RGD:9068941	20230202	MouseDO		OMIM:259680	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1352589	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1352589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077386	PSTPIP2	proline-serine-threonine phosphatase interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077408	JPH4	junctophilin 4	gene	DOID:0080600	COVID-19		ISO	RGD:1315305	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12077408	JPH4	junctophilin 4	gene	DOID:1909	melanoma		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077408	JPH4	junctophilin 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077408	JPH4	junctophilin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077408	JPH4	junctophilin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077419	KCTD6	potassium channel tetramerization domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077444	DYNLT3	dynein light chain Tctex-type 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:11335	sarcoidosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17949965|REF_RGD_ID:4145494
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:1205	allergic disease		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17641031|REF_RGD_ID:4145495
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:17898016|REF_RGD_ID:4145612
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:1485	cystic fibrosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neutrophil	PMID:18026571|REF_RGD_ID:4145491
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD			PMID:18785972|REF_RGD_ID:4145604
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD			PMID:20237293|REF_RGD_ID:4145486
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:11160256|PMID:15947487|REF_RGD_ID:4145513|REF_RGD_ID:4145603
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:2841	asthma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:20074456|REF_RGD_ID:4145487
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:15491423|REF_RGD_ID:1626251
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3082	interstitial lung disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18276722|REF_RGD_ID:4145606
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion	PMID:18684970|REF_RGD_ID:4145489
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3310	atopic dermatitis		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19715610|REF_RGD_ID:4145488
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:4362	cervical cancer		ISO	RGD:1349365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:4483	rhinitis		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, mononuclear cell	PMID:17517104|REF_RGD_ID:4145498
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:20071465|REF_RGD_ID:4145614
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:552	pneumonia		ISO	RGD:1349365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:552	pneumonia		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9001371	Eosinophilia	severity	ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Lymphoma, T-Cell	PMID:18395252|REF_RGD_ID:11354898
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:733477	D	RGD:9068941	20200609	RGD			PMID:15466387|REF_RGD_ID:4145515
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:16387607|REF_RGD_ID:4145500
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:619924	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, alveolar macrophage	PMID:15293604|REF_RGD_ID:4145517
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077453	CCL17	C-C motif chemokine ligand 17	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:1349365	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:11956056|REF_RGD_ID:4145602
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349499	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1349499	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs2070959(human)	PMID:29239247|REF_RGD_ID:14401574
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:2739	Gilbert syndrome		ISO	RGD:1349499	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Gilbert syndrome | ClinVar Annotator: match by term: Gilbert's syndrome | ClinVar Annotator: match by term: HYPERBILIRUBINEMIA, GILBERT TYPE	PMID:10412811|PMID:10472535|PMID:10975608|PMID:11013440|PMID:11061796|PMID:11156391|PMID:11182932|PMID:11316168|PMID:11906189|PMID:11968090|PMID:11983459|PMID:12105841|PMID:12181437|PMID:12208142|PMID:12402338|PMID:12485959|PMID:12502904|PMID:14550264|PMID:14616765|PMID:15007088|PMID:15304109|PMID:15304120|PMID:15378351|PMID:15712364|PMID:16269258|PMID:16504606|PMID:16610035|PMID:1692835|PMID:16952560|PMID:17510208|PMID:17850628|PMID:18004206|PMID:18058623|PMID:18414213|PMID:18419642|PMID:19243019|PMID:19325249|PMID:19397531|PMID:19414484|PMID:19450125|PMID:19830808|PMID:20530282|PMID:20975617|PMID:21272068|PMID:21297505|PMID:21319362|PMID:21342357|PMID:21726413|PMID:22169899|PMID:22325916|PMID:22514612|PMID:22983686|PMID:22992668|PMID:23014115|PMID:23089802|PMID:23099197|PMID:23290513|PMID:23386248|PMID:23403257|PMID:23875061|PMID:23997956|PMID:24033266|PMID:24033692|PMID:24390994|PMID:24492252|PMID:24749086|PMID:25200497|PMID:25741868|PMID:25755387|PMID:25869015|PMID:25993113|PMID:26039129|PMID:26200705|PMID:26250421|PMID:26467025|PMID:26604633|PMID:26697581|PMID:26716871|PMID:26727668|PMID:26830078|PMID:26857783|PMID:27220761|PMID:27264814|PMID:27845419|PMID:28492532|PMID:28520360|PMID:28585035|PMID:29137095|PMID:29607327|PMID:30544479|PMID:30669781|PMID:31145902|PMID:31450232|PMID:31467903|PMID:31737051|PMID:31858773|PMID:32860008|PMID:33083013|PMID:34953813|PMID:35257483|PMID:35426266|PMID:35436954|PMID:35781232|PMID:35942604|PMID:36274106|PMID:36350824|PMID:36574877|PMID:37671043|PMID:38279097|PMID:6480579|PMID:7715297|PMID:7906695|PMID:7989045|PMID:8102509|PMID:8276413|PMID:8528206|PMID:8706880|PMID:9435989|PMID:9621515|PMID:9630669|PMID:9784835|PMID:9929972
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:2773	contact dermatitis		ISO	RGD:1349499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:3803	Crigler-Najjar syndrome		ISO	RGD:8563020	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Crigler-Najjar syndrome	PMID:11061796|PMID:11983459|PMID:12181437|PMID:12485959|PMID:15304109|PMID:15304120|PMID:18004206|PMID:18414213|PMID:18419642|PMID:21297505|PMID:21319362|PMID:22169899|PMID:24033266|PMID:24749086|PMID:25741868|PMID:26250421|PMID:28492532|PMID:29137095|PMID:9630669
12077464	UGT1A6	UDP glucuronosyltransferase 1 family, polypeptide A6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620949	D	RGD:9068941	20220414	RGD		mRNA,protein:increased expression,increased activity:intestine, colon:	PMID:23545594|REF_RGD_ID:10769362
12077482	FAM185A	family with sequence similarity 185 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077482	FAM185A	family with sequence similarity 185 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077482	FAM185A	family with sequence similarity 185 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077482	FAM185A	family with sequence similarity 185 member A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1601709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18342293
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD		protein:increased activity,protein:renal glomerulus:	PMID:18178252|REF_RGD_ID:10412641
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		protein:increased expression:cortex,striatum,nucleus:	PMID:19646509|REF_RGD_ID:10412311
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:1315043	D	RGD:9068941	20200609	RGD		DNa:SNO:promoter:rs5880308(human)	PMID:18327563|REF_RGD_ID:10412314
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1315044	D	RGD:9068941	20200609	RGD			PMID:19646509|REF_RGD_ID:10412311
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:1315043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21815648
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1561	cognitive disorder		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		associated with Chronic Cerebral Hypoperfusion;	PMID:24371084|REF_RGD_ID:10412307
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD		protein:increased nitrosylation, activity:hippocampus:	PMID:23137546|REF_RGD_ID:10412334
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:motor neuron:	PMID:15910777|REF_RGD_ID:10412312
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:1306565	D	RGD:9068941	20200609	RGD			PMID:23968852|REF_RGD_ID:10412642
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315043	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1306565	D	RGD:9068941	20200609	RGD			PMID:22635076|REF_RGD_ID:10412335
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:6000	congestive heart failure		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		protein:increased activity:heart:	PMID:17562954|REF_RGD_ID:10412331
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1315043	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine:	PMID:20716917|REF_RGD_ID:10412640
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD		protein:increased expression:white matter and grey matter:	PMID:10331432|REF_RGD_ID:10412645
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:1306565	D	RGD:9068941	20200709	RGD			PMID:30226536|REF_RGD_ID:35316073
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:lung:	PMID:24126891|REF_RGD_ID:10412643
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002056	Arterial Injury		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD			PMID:14638553|REF_RGD_ID:10412321
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1315043	D	RGD:9068941	20200609	RGD			PMID:16331767|REF_RGD_ID:10412332
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9002514	Neointima	treatment	ISO	RGD:1306565	D	RGD:9068941	20200609	RGD			PMID:14638553|REF_RGD_ID:10412321
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD			PMID:21843499|REF_RGD_ID:9587791
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1315043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18342293
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1306565	D	RGD:9068941	20200609	RGD		protein:increased activity:carotid artery:	PMID:14638553|REF_RGD_ID:10412321
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1306565	D	RGD:9068941	20200609	RGD			PMID:23952292|REF_RGD_ID:10412647
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1306565	D	RGD:9068941	20241214	RGD		protein:increased expression:CA1 field of hippocampus:	PMID:12786973|REF_RGD_ID:2298728
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1315043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18700144
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:1306565	D	RGD:9068941	20220923	RGD			PMID:31583047|REF_RGD_ID:155230831
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007970	Chronic Cerebral Hypoperfusion		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:brain:	PMID:24371084|REF_RGD_ID:10412307
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077495	MAP3K5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1315043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16731828
12077495	Map3k5	mitogen-activated protein kinase kinase kinase 5	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1315044	D	RGD:9068941	20200609	RGD		protein:increased activity:heart:	PMID:14665690|REF_RGD_ID:10412322
12077529	TTYH1	tweety family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077529	TTYH1	tweety family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077529	TTYH1	tweety family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077529	TTYH1	tweety family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077529	TTYH1	tweety family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077529	TTYH1	tweety family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077529	TTYH1	tweety family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077529	TTYH1	tweety family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077529	TTYH1	tweety family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:16917484|PMID:18317597|PMID:23950152|PMID:25525159|PMID:25741868|PMID:28192796|PMID:28492532|PMID:30582903|PMID:34198599
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:7240710	20180130	OMIM			
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:0110408	retinitis pigmentosa 11		ISO	RGD:1314103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PRPF31-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 11 | ClinVar Annotator: match by term: Retinitis pigmentosa 11	PMID:11545739|PMID:16799052|PMID:17325180|PMID:17576681|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27391102|PMID:28492532|PMID:29847639|PMID:29957067|PMID:30582903|PMID:31054281|PMID:31690835|PMID:31892304|PMID:32014492|PMID:32483926|PMID:33085829|PMID:33749171|PMID:33946315|PMID:34906470|PMID:36317469|PMID:8004108|PMID:8808602|PMID:9536098
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25741868|PMID:28041643|PMID:28166811|PMID:28492532|PMID:29847639|PMID:30337596|PMID:30582903|PMID:30718709|PMID:30921587|PMID:33095315
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:33090715|PMID:33095315|PMID:34906470
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:29260190|PMID:29847639|PMID:30337596|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31814694|PMID:33090715|PMID:33095315|PMID:34906470|PMID:36909829
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30337596|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107|PMID:36909829
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:16799052|PMID:18317597|PMID:19506198|PMID:23288994|PMID:23950152|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28512305|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31213501|PMID:31814694|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33095315|PMID:33749171|PMID:33946315|PMID:34906470|PMID:35138024|PMID:35836572|PMID:36819107
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314103	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:16199547|PMID:18317597|PMID:23950152|PMID:25324289|PMID:25741868|PMID:28492532|PMID:28512305|PMID:29260190|PMID:30718709|PMID:30902645|PMID:30921587|PMID:31814694|PMID:32014492|PMID:32531858|PMID:33095315|PMID:34906470|PMID:36317469
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1314103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:30718709
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:5679	retinal disease		ISO	RGD:1314103	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532|PMID:30718709
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:630	genetic disease		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:37734845
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314103	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11545739|PMID:16199547|PMID:16799052|PMID:16917484|PMID:17003455|PMID:17576681|PMID:18317597|PMID:20861475|PMID:23343310|PMID:23950152|PMID:24202059|PMID:24265693|PMID:24664689|PMID:2552515|PMID:25525159|PMID:25741868|PMID:26872967|PMID:27208204|PMID:27898983|PMID:28041643|PMID:28157192|PMID:28192796|PMID:2825385|PMID:28492532|PMID:28559085|PMID:29260190|PMID:29305715|PMID:29785639|PMID:29847639|PMID:30029497|PMID:30360737|PMID:30582903|PMID:3071870|PMID:30718709|PMID:31106028|PMID:31213501|PMID:31892304|PMID:32014492|PMID:3253185|PMID:32531858|PMID:33090715|PMID:33749171|PMID:33946315|PMID:34198599|PMID:34906470|PMID:3513802|PMID:35138024|PMID:35836572|PMID:36338669|PMID:36460718|PMID:36819107|PMID:9536098
12077555	PRPF31	pre-mRNA processing factor 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077573	HLTF	helicase like transcription factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077573	HLTF	helicase like transcription factor	gene	DOID:1909	melanoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077573	HLTF	helicase like transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077573	HLTF	helicase like transcription factor	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1319146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762066
12077573	HLTF	helicase like transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12077573	HLTF	helicase like transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077573	HLTF	helicase like transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperphosphatemia	PMID:12700602|PMID:14684682|PMID:15065824|PMID:15375013|PMID:16282348|PMID:16470589|PMID:18285823|PMID:20501893|PMID:21158752|PMID:22991266|PMID:23722869|PMID:23805858|PMID:24603890|PMID:25741868|PMID:25970827|PMID:26387786|PMID:28492532|PMID:32573726|PMID:9245985
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:10079	D	RGD:9068941	20220825	MouseDO		OMIM:108010	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:0080600	COVID-19		ISO	RGD:737253	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:16470589|PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:10534	stomach cancer		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1059	intellectual disability		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1059	intellectual disability		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1115	sarcoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:10079	D	RGD:9068941	20200609	RGD			PMID:11062473|REF_RGD_ID:1300250
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:12134	factor VIII deficiency		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEMOPHILIA, CLASSIC	PMID:16470589|PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:12215	oligohydramnios		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:737253	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia	PMID:16705692|PMID:21158752|PMID:25637381|PMID:25741868|PMID:26176610|PMID:28166811|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia | ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome	PMID:12114496|PMID:15024723|PMID:15517393|PMID:15521985|PMID:15712270|PMID:15712271|PMID:15880681|PMID:16051269|PMID:16123970|PMID:16429404|PMID:16525724|PMID:16706966|PMID:17095602|PMID:17576681|PMID:17786384|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:20301525|PMID:20414677|PMID:20609011|PMID:21158752|PMID:22377182|PMID:22553411|PMID:22991266|PMID:23535011|PMID:23722869|PMID:24001356|PMID:24603890|PMID:25741868|PMID:26176610|PMID:26387786|PMID:28492532|PMID:30578397|PMID:31220907|PMID:31400083|PMID:32300199|PMID:32503579|PMID:37206738|PMID:9245985|PMID:9536098
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1272	telangiectasis		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Telangiectasia	PMID:12700602|PMID:14684682|PMID:15065824|PMID:15375013|PMID:16282348|PMID:16470589|PMID:18285823|PMID:20501893|PMID:21158752|PMID:22991266|PMID:23722869|PMID:23805858|PMID:24603890|PMID:25741868|PMID:25970827|PMID:26387786|PMID:28492532|PMID:32573726|PMID:9245985
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:12849	autistic disorder		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25326635|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:12849	autistic disorder		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1324	lung cancer		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary pulmonary hypertension	PMID:26387786|PMID:27316748|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:1909	melanoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:20501893|PMID:24033266|PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2029	D	RGD:9068941	20200609	RGD			PMID:15781474|REF_RGD_ID:1579751
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:255	hemangioma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:3275	thymoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15879500|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32503579
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:737253	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ADA deficiency	PMID:10187774|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16429404|PMID:16706966|PMID:17786384|PMID:18285823|PMID:18498373|PMID:19508727|PMID:22377182|PMID:22553411|PMID:23722869|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31400083|PMID:31450639|PMID:32503579|PMID:32573726|PMID:33919892|PMID:35628811|PMID:9245985
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6364	migraine		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2029	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17392319|REF_RGD_ID:1601116
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:737253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26540443
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:737253	D	RGD:9068941	20200609	RGD		DNA:mutations (human)	PMID:20056902|REF_RGD_ID:5128837
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:6432	pulmonary hypertension	susceptibility	ISO	RGD:737253	D	RGD:9068941	20200609	RGD		associated with hereditary haemorrhagic telangiectasia;DNA:missense mutations	PMID:14684682|REF_RGD_ID:1601117
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9001227	Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED	PMID:10767348|PMID:11484689|PMID:12114496|PMID:12700602|PMID:14684682|PMID:15065824|PMID:15375013|PMID:15687131|PMID:15880681|PMID:16282348|PMID:16470589|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18498373|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21158752|PMID:21378382|PMID:22632830|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23722869|PMID:23805858|PMID:23919827|PMID:24603890|PMID:25318803|PMID:25741868|PMID:25970827|PMID:26387786|PMID:27316748|PMID:28492532|PMID:29631995|PMID:30260738|PMID:32300199|PMID:32503579|PMID:32573726|PMID:32581362|PMID:36993588|PMID:9245985
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:11484689|PMID:15687131|PMID:15879500|PMID:16540754|PMID:17786384|PMID:18159113|PMID:18498373|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:24033266|PMID:24753439|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:29650961|PMID:30260738|PMID:32581362
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:12700602|PMID:14684682|PMID:15065824|PMID:15375013|PMID:16282348|PMID:16470589|PMID:18285823|PMID:20501893|PMID:21158752|PMID:22991266|PMID:23722869|PMID:23805858|PMID:24603890|PMID:25741868|PMID:25970827|PMID:26387786|PMID:28492532|PMID:32573726|PMID:9245985
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:737253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26540443
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9005819	Hereditary Hemorrhagic Telangiectasia, Type 2		ISO	RGD:737253	D	RGD:7240710	20180130	OMIM			
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9005819	Hereditary Hemorrhagic Telangiectasia, Type 2		ISO	RGD:737253	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACVRL1-related disorder | ClinVar Annotator: match by term: Haemorrhagic telangiectasia 2 | ClinVar Annotator: match by term: Hereditary hemorrhagic telangiectasia type 2 | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 2 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type II	PMID:10187774|PMID:10694922|PMID:10767348|PMID:11170071|PMID:11484689|PMID:11865300|PMID:12079393|PMID:12114496|PMID:12700602|PMID:12843319|PMID:14684682|PMID:15024723|PMID:15065824|PMID:15266205|PMID:15375013|PMID:15517393|PMID:15521985|PMID:15687131|PMID:15712270|PMID:15712271|PMID:15879500|PMID:15880681|PMID:15993872|PMID:16123970|PMID:16199547|PMID:16282348|PMID:16429404|PMID:16470589|PMID:16470787|PMID:16525724|PMID:16540754|PMID:16542389|PMID:16611099|PMID:16690726|PMID:16705692|PMID:16706966|PMID:16752392|PMID:16861286|PMID:17219009|PMID:17384219|PMID:17425869|PMID:17576681|PMID:17786384|PMID:18159113|PMID:18285823|PMID:18312453|PMID:18495117|PMID:18498373|PMID:18673552|PMID:19115559|PMID:19357124|PMID:19508727|PMID:19555857|PMID:19763152|PMID:19767588|PMID:20056902|PMID:20301525|PMID:20307669|PMID:20414677|PMID:20501893|PMID:20609011|PMID:20971646|PMID:21132305|PMID:21158752|PMID:21378382|PMID:21398687|PMID:21488239|PMID:21536610|PMID:21546842|PMID:22028876|PMID:22377182|PMID:22406018|PMID:22553411|PMID:22632830|PMID:22718755|PMID:22781769|PMID:22799562|PMID:22977237|PMID:22991266|PMID:23124896|PMID:23298310|PMID:23535011|PMID:23568730|PMID:23653583|PMID:23722869|PMID:23729109|PMID:23805858|PMID:23919827|PMID:24001356|PMID:24033266|PMID:24196379|PMID:24603890|PMID:25312062|PMID:25318803|PMID:25557927|PMID:25741868|PMID:25778885|PMID:25970827|PMID:26176610|PMID:26245826|PMID:26387786|PMID:26401274|PMID:26699722|PMID:26986070|PMID:27077548|PMID:27081284|PMID:27291782|PMID:27316748|PMID:27613157|PMID:27630060|PMID:28492532|PMID:28918311|PMID:29171923|PMID:29449337|PMID:29631995|PMID:29650961|PMID:29743074|PMID:29923633|PMID:30120215|PMID:30244195|PMID:30251589|PMID:30260738|PMID:30578397|PMID:31220907|PMID:31400083|PMID:31455059|PMID:31594285|PMID:31618753|PMID:31727138|PMID:32238803|PMID:32300199|PMID:32341592|PMID:32503579|PMID:32573726|PMID:32581362|PMID:32899377|PMID:33754658|PMID:34008892|PMID:34157307|PMID:34872578|PMID:34966542|PMID:35346192|PMID:35620871|PMID:35683441|PMID:35753512|PMID:35997807|PMID:36993588|PMID:37206738|PMID:37336838|PMID:37568404|PMID:38202257|PMID:40225928|PMID:8640225|PMID:9245985|PMID:9536098
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9008421	Epistaxis		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:10767348|PMID:11484689|PMID:12114496|PMID:14684682|PMID:15687131|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:17786384|PMID:18159113|PMID:18498373|PMID:19767588|PMID:20056902|PMID:20501893|PMID:21378382|PMID:22632830|PMID:23124896|PMID:23298310|PMID:23919827|PMID:25741868|PMID:26387786|PMID:27316748|PMID:28492532|PMID:29631995|PMID:30260738|PMID:32300199|PMID:32503579|PMID:32581362|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:737253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:10767348|PMID:12114496|PMID:14684682|PMID:15880681|PMID:16282348|PMID:16540754|PMID:16542389|PMID:16752392|PMID:17384219|PMID:19767588|PMID:25741868|PMID:28492532|PMID:29631995|PMID:32300199|PMID:32503579|PMID:36993588
12077612	ACVRL1	activin A receptor like type 1	gene	DOID:9009117	primary pulmonary hypertension 1		ISO	RGD:737253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypertension, primary, 1	PMID:14684682|PMID:15024723|PMID:15712271|PMID:16470787|PMID:16690726|PMID:16705692|PMID:18159113|PMID:18498373|PMID:19555857|PMID:20414677|PMID:20501893|PMID:21158752|PMID:22632830|PMID:22781769|PMID:25557927|PMID:25741868|PMID:26387786|PMID:28492532|PMID:28918311|PMID:29449337|PMID:31400083|PMID:32503579|PMID:9245985
12077637	PLA2G5	phospholipase A2 group V	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:735328	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late onset retinal degeneration	
12077637	PLA2G5	phospholipase A2 group V	gene	DOID:0111677	familial benign fleck retina		ISO	RGD:735328	D	RGD:7240710	20180130	OMIM			
12077637	PLA2G5	phospholipase A2 group V	gene	DOID:0111677	familial benign fleck retina		ISO	RGD:735328	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FLECK RETINA, FAMILIAL BENIGN	PMID:22137173|PMID:25549071|PMID:28492532
12077637	PLA2G5	phospholipase A2 group V	gene	DOID:1115	sarcoma		ISO	RGD:735328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077672	RNF111	ring finger protein 111	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077672	RNF111	ring finger protein 111	gene	DOID:10534	stomach cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077672	RNF111	ring finger protein 111	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077672	RNF111	ring finger protein 111	gene	DOID:1324	lung cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077672	RNF111	ring finger protein 111	gene	DOID:1909	melanoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077672	RNF111	ring finger protein 111	gene	DOID:3275	thymoma		ISO	RGD:1320805	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077672	RNF111	ring finger protein 111	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12077672	RNF111	ring finger protein 111	gene	DOID:4362	cervical cancer		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077672	RNF111	ring finger protein 111	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1320806	D	RGD:9068941	20250313	MouseDO			
12077672	RNF111	ring finger protein 111	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077672	RNF111	ring finger protein 111	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320805	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077672	RNF111	ring finger protein 111	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077672	RNF111	ring finger protein 111	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077672	RNF111	ring finger protein 111	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:0080283	developmental and epileptic encephalopathy 55		ISO	RGD:1316260	D	RGD:7240710	20190315	OMIM			
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:0080283	developmental and epileptic encephalopathy 55		ISO	RGD:1316260	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 55 | ClinVar Annotator: match by term: PIGP-related condition	PMID:25741868|PMID:28334793|PMID:28492532|PMID:31139695|PMID:32042915
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:1324	lung cancer		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:3275	thymoma		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:4362	cervical cancer		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:630	genetic disease		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
12077711	PIGP	phosphatidylinositol glycan anchor biosynthesis class P	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:3275	thymoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:4362	cervical cancer		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077720	SUB1	SUB1 regulator of transcription	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:0060058	lymphoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1312355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1312355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:10534	stomach cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:1115	sarcoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:1324	lung cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:1909	melanoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:3070	high grade glioma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:4362	cervical cancer		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1312355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1312355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1312355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312355	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12077729	UBE4B	ubiquitination factor E4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312355	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077768	TMEM248	transmembrane protein 248	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077768	TMEM248	transmembrane protein 248	gene	DOID:1909	melanoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077768	TMEM248	transmembrane protein 248	gene	DOID:2394	ovarian cancer		ISO	RGD:1602880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12077768	TMEM248	transmembrane protein 248	gene	DOID:4362	cervical cancer		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077768	TMEM248	transmembrane protein 248	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077768	TMEM248	transmembrane protein 248	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12077768	TMEM248	transmembrane protein 248	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077782	SSNA1	SS nuclear autoantigen 1	gene	DOID:1115	sarcoma		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077782	SSNA1	SS nuclear autoantigen 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12077782	SSNA1	SS nuclear autoantigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605690	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1605690	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077789	NARF	nuclear prelamin A recognition factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077790	FSTL4	follistatin like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077790	FSTL4	follistatin like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077790	FSTL4	follistatin like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077790	FSTL4	follistatin like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077790	FSTL4	follistatin like 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12077790	FSTL4	follistatin like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077790	FSTL4	follistatin like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:0001816	angiosarcoma		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:0002116	pterygium		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bulbar conjunctiva:	PMID:22801834|REF_RGD_ID:8548457
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:0050580	hereditary lymphedema		ISO	RGD:732215	D	RGD:9068941	20220825	MouseDO		OMIM:153100 | OMIM:153200 | OMIM:247440 | OMIM:611944 | OMIM:613480 | OMIM:615907	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:0070209	hereditary lymphedema ID		ISO	RGD:732214	D	RGD:7240710	20180130	OMIM			
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:17094484|REF_RGD_ID:2315482
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:1909	melanoma		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17562445
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:1936	atherosclerosis		ISO	RGD:732215	D	RGD:9068941	20200609	RGD		associated with hypercholesterolemia;protein:increased expression:serum:	PMID:22206010|REF_RGD_ID:7483588
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:17257131|REF_RGD_ID:2315481
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:619800	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:18424890|REF_RGD_ID:2315488
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19911196|REF_RGD_ID:2315470
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19885590|REF_RGD_ID:2315471
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:3113	papillary carcinoma	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with thyroid diseases;mRNA:increased expression:thyroid gland:	PMID:12203051|REF_RGD_ID:7483611
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:3459	breast carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19382240|REF_RGD_ID:2315477
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:732214	D	RGD:9068941	20221027	RGD		protein:increased expression:pancreas (human)	PMID:22082308|REF_RGD_ID:155630643
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:19500329|REF_RGD_ID:2315476
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:5082	liver cirrhosis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:18544126|REF_RGD_ID:15003200
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:630	genetic disease		ISO	RGD:732214	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis; protein:increased expression:liver:	PMID:18544126|REF_RGD_ID:15003200
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:19923084|REF_RGD_ID:2315469
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Transitional Cell;protein:increased expression:urinary bladder	PMID:17034609|REF_RGD_ID:2315484
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms	PMID:19589137|REF_RGD_ID:2315475
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Lymphatic Metastasis;	PMID:15289890|REF_RGD_ID:7488946
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:19608016|REF_RGD_ID:2315474
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD		associated with thyroid diseases;mRNA:increased expression:thyroid gland:	PMID:12203051|REF_RGD_ID:7483611
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9000081	Lymphatic Metastasis	exacerbates	ISO	RGD:732214	D	RGD:9068941	20221027	RGD		associated with pancreatic adenocarcinoma;protein:increased expression:pancreas (human)	PMID:18061373|REF_RGD_ID:155630642
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9002801	Recurrence		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26124351
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619800	D	RGD:9068941	20200609	RGD			PMID:18704465|REF_RGD_ID:2315487
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9005873	Tongue Neoplasms	disease_progression	ISO	RGD:732214	D	RGD:9068941	20200609	RGD			PMID:15289890|REF_RGD_ID:7488946
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18509974|PMID:26124351
12077824	VEGFC	vascular endothelial growth factor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:1909	melanoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077846	CPXM1	carboxypeptidase X, M14 family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:155938187|RGD:155952350|RGD:156222923|RGD:329351704|RGD:401930060|RGD:401930063|RGD:404978054|RGD:404978057|RGD:404978058|RGD:404978061|RGD:404978063|RGD:404978064|RGD:404978067|RGD:404978069|RGD:404978072|RGD:404978074|RGD:404978076|RGD:404978079|RGD:404978081|RGD:405023918	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1605622	D	RGD:9068941	20260521	RGD		DNA:deletions,missense mutations:CDS:	PMID:32855533|REF_RGD_ID:598115434
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:2841	asthma	treatment	ISO	RGD:1605622	D	RGD:9068941	20251009	RGD		DNA:SNP: :rs34631960	PMID:32119686|REF_RGD_ID:628374358
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:303	substance-related disorder		ISO	RGD:1605622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605622	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:7240710	20220413	OMIM			
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:9008628	Familial Thoracic Aortic Aneurysm 12		ISO	RGD:1605622	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 12 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 12 | ClinVar Annotator: match by term: THSD4-related condition	PMID:25741868|PMID:32855533
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077867	THSD4	thrombospondin type 1 domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12077883	CRYBA2	crystallin beta A2	gene	DOID:0110237	cataract 42		ISO	RGD:1343426	D	RGD:7240710	20180130	OMIM			
12077883	CRYBA2	crystallin beta A2	gene	DOID:0110237	cataract 42		ISO	RGD:1343426	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: CRYBA2-related condition | ClinVar Annotator: match by term: Cataract 42	PMID:25741868
12077883	CRYBA2	crystallin beta A2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1343426	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12077883	CRYBA2	crystallin beta A2	gene	DOID:83	cataract		ISO	RGD:1343426	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: early-onset anterior polar cataract	PMID:25741868
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25656644
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941|PMID:25656644
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:13580	cholestasis	disease_progression	ISO	RGD:621400	D	RGD:9068941	20200609	RGD			PMID:29204052|REF_RGD_ID:13782189
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:1909	melanoma		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:3275	thymoma		ISO	RGD:1344163	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17172636|PMID:24769335|PMID:25656644
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1344163	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:23607986|PMID:23721867|PMID:25656644|PMID:32320717|PMID:32435917
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:621400	D	RGD:9068941	20200609	RGD			PMID:20636876|REF_RGD_ID:9835393
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20869355
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941|PMID:19482888|PMID:22293087|PMID:24449422|PMID:28218408
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14742670|PMID:25656644|PMID:28058446
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9351	diabetes mellitus		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20869355
12077895	NR1I3	nuclear receptor subfamily 1 group I member 3	gene	DOID:9970	obesity		ISO	RGD:1344163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20869355
12077911	GYS1	glycogen synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:0061272	muscle glycogen storage disease		ISO	RGD:1320086	D	RGD:7240710	20180130	OMIM			
12077911	GYS1	glycogen synthase 1	gene	DOID:0061272	muscle glycogen storage disease		ISO	RGD:1320086	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: GYS1-related condition | ClinVar Annotator: match by term: Glycogen storage disease 0, muscle | ClinVar Annotator: match by term: MUSCLE GLYCOGEN SYNTHASE DEFICIENCY | ClinVar Annotator: match by term: Muscle glycogen synthase deficiency	PMID:16199547|PMID:17576681|PMID:17928598|PMID:19699667|PMID:25741868|PMID:28492532|PMID:9536098
12077911	GYS1	glycogen synthase 1	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1320086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 10	PMID:25741868
12077911	GYS1	glycogen synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12077911	GYS1	glycogen synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:28492532|PMID:9536098
12077911	GYS1	glycogen synthase 1	gene	DOID:1287	cardiovascular system disease	severity	ISO	RGD:1320086	D	RGD:9068941	20200609	RGD			PMID:17356695|REF_RGD_ID:2313172
12077911	GYS1	glycogen synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077911	GYS1	glycogen synthase 1	gene	DOID:1826	epilepsy		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12077911	GYS1	glycogen synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12077911	GYS1	glycogen synthase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12077911	GYS1	glycogen synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12077911	GYS1	glycogen synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1320086	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12077911	GYS1	glycogen synthase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:28492532
12077911	GYS1	glycogen synthase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
12077911	GYS1	glycogen synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:28492532|PMID:9536098
12077911	GYS1	glycogen synthase 1	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:1320086	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:missense mutation:exon:p.M416V (human)	PMID:9267990|REF_RGD_ID:2313176
12077911	GYS1	glycogen synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12077942	IRX1	iroquois homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12077942	IRX1	iroquois homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12077942	IRX1	iroquois homeobox 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349465	D	RGD:9068941	20230706	RGD		DNA:missense mutations:CDS:p.Q240E, p.S298N, p.A381E ( , , rs530506520) (human)	PMID:28358424|REF_RGD_ID:329950497
12077942	IRX1	iroquois homeobox 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349465	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12077942	IRX1	iroquois homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12077942	IRX1	iroquois homeobox 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1309060	D	RGD:9068941	20230706	RGD			PMID:31640472|REF_RGD_ID:329950496
12077942	IRX1	iroquois homeobox 1	gene	DOID:850	lung disease		ISO	RGD:1349465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
12077942	IRX1	iroquois homeobox 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078060	KERA	keratocan	gene	DOID:0060287	cornea plana		ISO	RGD:1314079	D	RGD:9068941	20220825	MouseDO		OMIM:121400 | OMIM:217300	
12078060	KERA	keratocan	gene	DOID:10126	keratoconus		ISO	RGD:1314078	D	RGD:9068941	20200609	RGD		RNA,protein:increased_expression:corneal_stroma:specific to keratoconus corneas	PMID:11683372|REF_RGD_ID:1600400
12078060	KERA	keratocan	gene	DOID:11342	arcus senilis		ISO	RGD:1314078	D	RGD:9068941	20200609	RGD		autosomal recessive cornea plana, OMIM:217300    DNA:point_mutation:CDS:amino acid N247S	PMID:10802664|REF_RGD_ID:1600335
12078060	KERA	keratocan	gene	DOID:2566	corneal dystrophy		ISO	RGD:1314078	D	RGD:9068941	20200609	RGD		autosomal recessive cornea plana, OMIM:217300    DNA:point_mutation:CDS:amino acid N247S	PMID:10802664|REF_RGD_ID:1600335
12078060	KERA	keratocan	gene	DOID:3275	thymoma		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078060	KERA	keratocan	gene	DOID:5041	esophageal cancer		ISO	RGD:1314078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078060	KERA	keratocan	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078060	KERA	keratocan	gene	DOID:9002263	Cornea Plana 2		ISO	RGD:1314078	D	RGD:7240710	20180130	OMIM			
12078060	KERA	keratocan	gene	DOID:9002263	Cornea Plana 2		ISO	RGD:1314078	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEA PLANA 2 | ClinVar Annotator: match by term: Cornea plana 2 | ClinVar Annotator: match by term: KERA-related disorder	PMID:10802664|PMID:11754099|PMID:16234475|PMID:17679937|PMID:23834557|PMID:25741868|PMID:28492532|PMID:28677912|PMID:28799822|PMID:31059048|PMID:32830442
12078060	KERA	keratocan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078076	BYSL	bystin like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078076	BYSL	bystin like	gene	DOID:1324	lung cancer		ISO	RGD:1352999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078076	BYSL	bystin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078076	BYSL	bystin like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078076	BYSL	bystin like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078076	BYSL	bystin like	gene	DOID:9000998	Brain Injuries		ISO	RGD:727959	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:substantia nigra, striatum (rat)	PMID:15305856|REF_RGD_ID:2316201
12078088	HSF1	heat shock transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:730995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24256636
12078088	HSF1	heat shock transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum (rat)	PMID:23665061|REF_RGD_ID:10402771
12078088	HSF1	heat shock transcription factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:altered localization:promoter (mouse)	PMID:24849358|REF_RGD_ID:10402385
12078088	HSF1	heat shock transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:testis, spermatocyte, nucleus (rat)	PMID:21480429|REF_RGD_ID:10402945
12078088	HSF1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:730995	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:16051598|REF_RGD_ID:10402372
12078088	HSF1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (mouse)	PMID:19443488|REF_RGD_ID:10402387
12078088	HSF1	heat shock transcription factor 1	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:730996	D	RGD:9068941	20200609	RGD			PMID:24381308|REF_RGD_ID:10402386
12078088	HSF1	heat shock transcription factor 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:decreased expression:midbrain (rat)	PMID:24296154|REF_RGD_ID:10402753
12078088	HSF1	heat shock transcription factor 1	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:24852355|REF_RGD_ID:10402545
12078088	HSF1	heat shock transcription factor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730995	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22885793
12078088	HSF1	heat shock transcription factor 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, nucleus (rat)	PMID:26070787|REF_RGD_ID:10402389
12078088	HSF1	heat shock transcription factor 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD		associated with Heart Arrest	PMID:23528677|REF_RGD_ID:10402772
12078088	HSF1	heat shock transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:altered localization:heart left ventricle (rat)	PMID:24285117|REF_RGD_ID:10402754
12078088	HSF1	heat shock transcription factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:767	muscular atrophy	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:21983076|REF_RGD_ID:10402941
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9000099	Experimental Colitis		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased acetylation:colon (rat)	PMID:25608526|REF_RGD_ID:10402402
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9000972	Fever		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		associated with Endotoxemia;protein:altered localization:preoptic area, anterior hypothalamus, nucleus (rat)	PMID:22427437|REF_RGD_ID:10402781
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9002395	Hypothermia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland ventral lobe (rat)	PMID:25996932|REF_RGD_ID:10402397
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9002669	Hypoxia		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:gastric mucosa (rat)	PMID:22156356|REF_RGD_ID:10402813
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:25804640|REF_RGD_ID:10402399
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:730995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9004562	Smoke Inhalation Injury	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:23499678|REF_RGD_ID:10402773
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:23219797|REF_RGD_ID:10402774
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:620913	D	RGD:9068941	20200609	RGD			PMID:25571843|REF_RGD_ID:10402404
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620913	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:23102208|REF_RGD_ID:10402775
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730996	D	RGD:9068941	20200609	RGD			PMID:22426029|REF_RGD_ID:10402789
12078088	HSF1	heat shock transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730996	D	RGD:9068941	20200609	RGD		protein:increased expression:heart (mouse)	PMID:24496227|REF_RGD_ID:10402557
12078110	PDZK1IP1	PDZK1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078110	PDZK1IP1	PDZK1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078110	PDZK1IP1	PDZK1 interacting protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12078110	PDZK1IP1	PDZK1 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:7240710	20211006	OMIM			
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1347524	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDEMIA IIB | ClinVar Annotator: match by term: Glutaric acidemia IIC | ClinVar Annotator: match by term: Glutaric acidemia IIb | ClinVar Annotator: match by term: Glutaric acidemia type 2 | ClinVar Annotator: match by term: Glutaric aciduria, type 2 | ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency	PMID:12706375|PMID:12815589|PMID:16199547|PMID:16510302|PMID:17576681|PMID:17638024|PMID:18289905|PMID:19088074|PMID:19763152|PMID:20307669|PMID:20674745|PMID:22406018|PMID:22588007|PMID:23785301|PMID:24033266|PMID:24215330|PMID:25741868|PMID:28454995|PMID:28492532|PMID:30626930|PMID:31418342|PMID:31589614|PMID:32778825|PMID:35095998|PMID:36964972|PMID:37344829|PMID:7912128|PMID:9536098
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1347524	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24215330|PMID:25741868|PMID:28492532
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:784	chronic kidney disease		ISO	RGD:1347524	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24215330|PMID:25741868|PMID:28492532
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
12078126	ETFB	electron transfer flavoprotein subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320591	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:0060169	benign familial infantile epilepsy		ISO	RGD:1320591	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Benign familial infantile epilepsy	PMID:25741868|PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1320591	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:1059	intellectual disability		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22495311|PMID:25363768|PMID:25741868|PMID:26181491|PMID:31954878
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:1115	sarcoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:11155	hypohidrosis		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:12849	autistic disorder		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism, susceptibility to, 15 | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:1826	epilepsy		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:1969	cerebral palsy		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:2030	anxiety disorder		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1320591	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:16199547|PMID:17576681|PMID:22495311|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31785789|PMID:31954878|PMID:9536098
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1320591	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31785789|PMID:31954878|PMID:9536098
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:1320591	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy | ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:16199547|PMID:17576681|PMID:22495311|PMID:26181491|PMID:28166811|PMID:28492532|PMID:31785789|PMID:31954878|PMID:9536098
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:4362	cervical cancer		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320591	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320591	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: JMJD1C-associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: JMJD1C-related Neurodevelopmental disorder | ClinVar Annotator: match by term: JMJD1C-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26181491|PMID:28492532|PMID:31954878
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9008826	YOU-HOOVER-FONG SYNDROME		ISO	RGD:1320591	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TELO2-related intellectual disability-neurodevelopmental disorder	PMID:25741868
12078145	JMJD1C	jumonji domain containing 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:0111972	immunodeficiency 19		ISO	RGD:736987	D	RGD:7240710	20180130	OMIM			
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:0111972	immunodeficiency 19		ISO	RGD:736987	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 19 | ClinVar Annotator: match by term: IMMUNODEFICIENCY 19, SEVERE COMBINED | ClinVar Annotator: match by term: Immunodeficiency 19	PMID:14602880|PMID:15546002|PMID:16199547|PMID:17576681|PMID:21926461|PMID:23336327|PMID:24290291|PMID:25344390|PMID:25741868|PMID:28492532|PMID:31031743|PMID:9536098
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:1059	intellectual disability		ISO	RGD:736987	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:736987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:736987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17597826
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:3602	toxic encephalopathy		ISO	RGD:736987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:409	liver disease		ISO	RGD:736987	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:5041	esophageal cancer		ISO	RGD:736987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:736987	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:630	genetic disease		ISO	RGD:736987	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12078186	CD3D	CD3 delta subunit of T-cell receptor complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078195	RPL5	ribosomal protein L5	gene	DOID:0111879	Diamond-Blackfan anemia 6		ISO	RGD:731697	D	RGD:7240710	20180130	OMIM			
12078195	RPL5	ribosomal protein L5	gene	DOID:0111879	Diamond-Blackfan anemia 6		ISO	RGD:731697	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 6	PMID:16199547|PMID:19061985|PMID:19773262|PMID:25741868|PMID:28102861|PMID:28492532|PMID:30503522
12078195	RPL5	ribosomal protein L5	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:731697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:17576681|PMID:19773262|PMID:20378560|PMID:20960466|PMID:28492532|PMID:30503522|PMID:33718801|PMID:9536098
12078195	RPL5	ribosomal protein L5	gene	DOID:3068	glioblastoma		ISO	RGD:731697	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:26892688|REF_RGD_ID:11535147
12078195	RPL5	ribosomal protein L5	gene	DOID:5119	ovarian cyst		ISO	RGD:731697	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12078195	RPL5	ribosomal protein L5	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:731697	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23263491
12078195	RPL5	ribosomal protein L5	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:731697	D	RGD:9068941	20200609	RGD		DNA:snps, insertion, deletion:cds:multiple (human)	PMID:23263491|REF_RGD_ID:11535135
12078195	RPL5	ribosomal protein L5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078195	RPL5	ribosomal protein L5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731697	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome		ISO	RGD:1351064	D	RGD:7240710	20201223	OMIM			
12078208	HHAT	hedgehog acyltransferase	gene	DOID:0060644	chondrodysplasia-pseudohermaphroditism syndrome		ISO	RGD:1351064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HHAT-related condition | ClinVar Annotator: match by term: NIVELON-NIVELON-MABILLE SYNDROME	PMID:25741868|PMID:28492532
12078208	HHAT	hedgehog acyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:10629	microphthalmia		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: microphthalmia	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:12270	coloboma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: coloboma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1351064	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary disease	PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881
12078208	HHAT	hedgehog acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:9006743	Spasm		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle spasm	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:15075292|PMID:18534984|PMID:23055936|PMID:24784881
12078208	HHAT	hedgehog acyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078208	HHAT	hedgehog acyltransferase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1351064	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12078286	PAX4	paired box 4	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:18414213|PMID:25741868|PMID:25951767|PMID:28492532|PMID:32801813
12078286	PAX4	paired box 4	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17426099|PMID:17576681|PMID:18414213|PMID:25741868|PMID:25951767|PMID:28492532|PMID:32801813|PMID:9536098
12078286	PAX4	paired box 4	gene	DOID:0111107	maturity-onset diabetes of the young type 9		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 9	PMID:17426099|PMID:17576681|PMID:25741868|PMID:25951767|PMID:28492532|PMID:32801813|PMID:34135026|PMID:9536098
12078286	PAX4	paired box 4	gene	DOID:0111107	maturity-onset diabetes of the young type 9	susceptibility	ISO	RGD:1347682	D	RGD:7240710	20260812	OMIM			
12078286	PAX4	paired box 4	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
12078286	PAX4	paired box 4	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, ketosis-prone	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12078286	PAX4	paired box 4	gene	DOID:1837	diabetic ketoacidosis	susceptibility	ISO	RGD:1347682	D	RGD:7240710	20260812	OMIM			
12078286	PAX4	paired box 4	gene	DOID:1909	melanoma		ISO	RGD:1347682	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949370
12078286	PAX4	paired box 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1347682	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:15509590|PMID:18414213|PMID:25741868|PMID:28492532
12078286	PAX4	paired box 4	gene	DOID:9351	diabetes mellitus		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes | ClinVar Annotator: match by term: monogenic diabetes	PMID:25741868|PMID:28492532
12078286	PAX4	paired box 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347682	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:17426099|PMID:17576681|PMID:18414213|PMID:25741868|PMID:25951767|PMID:28492532|PMID:32801813|PMID:9536098
12078286	PAX4	paired box 4	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:1347682	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.R121W (human)	PMID:12604352|REF_RGD_ID:2311635
12078286	PAX4	paired box 4	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1347682	D	RGD:7240710	20260812	OMIM			
12078286	PAX4	paired box 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1347682	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12078286	PAX4	paired box 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1347682	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R133W (human)	PMID:15509590|REF_RGD_ID:2311634
12078286	PAX4	paired box 4	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1347682	D	RGD:9068941	20200609	RGD			PMID:15834548|REF_RGD_ID:2311633
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:10534	stomach cancer		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:1324	lung cancer		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:3275	thymoma		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:5041	esophageal cancer		ISO	RGD:1602300	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078298	IL17RE	interleukin 17 receptor E	gene	DOID:9256	colorectal cancer		ISO	RGD:1602300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9466558
12078342	IRS1	insulin receptor substrate 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD			PMID:20846698|REF_RGD_ID:6483014
12078342	IRS1	insulin receptor substrate 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12679424
12078342	IRS1	insulin receptor substrate 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10816	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:hippocampus	PMID:22476196|REF_RGD_ID:6482861
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus:	PMID:22527777|REF_RGD_ID:10045939
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:increased expression, increased serine phosphorylation, increased tyrosine phosphorylation:hippocampus CA1	PMID:22476197|REF_RGD_ID:6482860
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1801278(human)	PMID:24589556|REF_RGD_ID:10045932
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:altered expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
12078342	IRS1	insulin receptor substrate 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10816	D	RGD:9068941	20200609	RGD			PMID:23011726|PMID:23660953|REF_RGD_ID:10045935|REF_RGD_ID:10403036
12078342	IRS1	insulin receptor substrate 1	gene	DOID:11476	osteoporosis		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:multiple	PMID:22820932|REF_RGD_ID:7207063
12078342	IRS1	insulin receptor substrate 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
12078342	IRS1	insulin receptor substrate 1	gene	DOID:13223	uterine fibroid		ISO	RGD:733473	D	RGD:9068941	20231102	RGD		DNA:hypomethylation:uterus (human)	PMID:23818951|REF_RGD_ID:401851920
12078342	IRS1	insulin receptor substrate 1	gene	DOID:1909	melanoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19734900
12078342	IRS1	insulin receptor substrate 1	gene	DOID:3393	coronary artery disease		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
12078342	IRS1	insulin receptor substrate 1	gene	DOID:3393	coronary artery disease		ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:G972R	PMID:10591678|REF_RGD_ID:1624974
12078342	IRS1	insulin receptor substrate 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30594912
12078342	IRS1	insulin receptor substrate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1311924|PMID:23958494
12078342	IRS1	insulin receptor substrate 1	gene	DOID:783	end stage renal disease		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:aorta	PMID:22942179|REF_RGD_ID:7207055
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:733473	D	RGD:9068941	20241010	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia with microcephaly, autosomal recessive	PMID:25741868
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:growth plate:	PMID:22995397|REF_RGD_ID:8661261
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15678496
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9004086	AIDS Dementia Complex	severity	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:cerebrospinal fluid, leukocyte	PMID:22629383|REF_RGD_ID:10403033
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9004484	Sepsis		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation, increased serine phosphorylation:gastrocnemius	PMID:19781177|REF_RGD_ID:6482862
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:multiple	PMID:22820932|REF_RGD_ID:7207063
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138235
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2922	D	RGD:9068941	20200609	RGD			PMID:22983684|REF_RGD_ID:7207061
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:10816	D	RGD:9068941	20200609	RGD		protein:increased tyrosine nitration, decreased tyrosine phosphorylation:skeletal muscle	PMID:21206533|REF_RGD_ID:6483008
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased expression:skeletal muscle	PMID:10842668|REF_RGD_ID:6482864
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10816	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23748240
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Insulin resistance, susceptibility to	
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10591678
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12679424
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733473	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IRS1-related condition | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS	PMID:25741868
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733473	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.P512A, p.G971R (human)	PMID:15561966|REF_RGD_ID:6482863
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733473	D	RGD:7240710	20240918	OMIM			
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9970	obesity		ISO	RGD:2922	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation, increased serine phosphorylation:skeletal muscle	PMID:22982470|REF_RGD_ID:7207062
12078342	IRS1	insulin receptor substrate 1	gene	DOID:9970	obesity		ISO	RGD:733473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
12078348	LRRC14B	leucine rich repeat containing 14B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12078348	LRRC14B	leucine rich repeat containing 14B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3418715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:0110876	holoprosencephaly 7		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 7	PMID:25741868|PMID:28492532|PMID:38529886
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:10485	esophageal atresia		ISO	RGD:1317002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:25741868
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:1826	epilepsy		ISO	RGD:1317002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1317002	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: Microform holoprosencephaly | ClinVar Annotator: match by term: lobar holoprosencephaly | ClinVar Annotator: match by term: microform holoprosencephaly	PMID:25741868|PMID:28492532|PMID:28640243
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:9008280	Holoprosencephaly 10		ISO	RGD:1317002	D	RGD:7240710	20250423	OMIM			
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:9008280	Holoprosencephaly 10		ISO	RGD:1317002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DISP1-related condition | ClinVar Annotator: match by term: HOLOPROSENCEPHALY 10 | ClinVar Annotator: match by term: Holoprosencephaly 10	PMID:25741868|PMID:28492532
12078354	DISP1	dispatched RND transporter family member 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1317002	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:735960	D	RGD:9068941	20200609	RGD			PMID:12161502|REF_RGD_ID:1581033
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:10763	hypertension		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:9168786|REF_RGD_ID:1581034
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:1909	melanoma		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:2237	hepatitis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21907177
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:2316	brain ischemia		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:14705148|REF_RGD_ID:1302269
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:4724	brain edema		ISO	RGD:2586	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:20541575|REF_RGD_ID:5490126
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:5082	liver cirrhosis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037076
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374729
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:12717003|REF_RGD_ID:7387270
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2586	D	RGD:9068941	20200609	RGD			PMID:11877315|REF_RGD_ID:7387271
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9002211	Hyperalgesia	severity	ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:19674841|REF_RGD_ID:7387269
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:10556	D	RGD:9068941	20200609	RGD			PMID:19674841|REF_RGD_ID:7387269
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9005372	Inflammation		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:10556	D	RGD:9068941	20210115	RGD			PMID:24866378|REF_RGD_ID:40924630
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735960	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078373	F2R	coagulation factor II thrombin receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:735960	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008134|PMID:21907177|PMID:22841818
12078388	PPL	periplakin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078388	PPL	periplakin	gene	DOID:0060058	lymphoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12078388	PPL	periplakin	gene	DOID:10534	stomach cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078388	PPL	periplakin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078388	PPL	periplakin	gene	DOID:1115	sarcoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078388	PPL	periplakin	gene	DOID:1324	lung cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078388	PPL	periplakin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078388	PPL	periplakin	gene	DOID:4362	cervical cancer		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078388	PPL	periplakin	gene	DOID:5041	esophageal cancer		ISO	RGD:1313581	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078388	PPL	periplakin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078388	PPL	periplakin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078388	PPL	periplakin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12078388	PPL	periplakin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078388	PPL	periplakin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078388	PPL	periplakin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078427	DCAF4	DDB1 and CUL4 associated factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0050871	fibroma		ISO	RGD:1311158	D	RGD:9068941	20200609	RGD			PMID:18456653|REF_RGD_ID:9586716
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0080898	cerebellofaciodental syndrome		ISO	RGD:1322467	D	RGD:7240710	20180130	OMIM			
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:0080898	cerebellofaciodental syndrome		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRF1-related condition | ClinVar Annotator: match by term: Cerebellar-facial-dental syndrome	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322467	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:10907	microcephaly		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:1115	sarcoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:1909	melanoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:630	genetic disease		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33645901
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9003098	Taurodontism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:25561519|PMID:25741868|PMID:27748960
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1322468	D	RGD:9068941	20200609	RGD			PMID:18420946|REF_RGD_ID:9686423
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25561519|PMID:25741868
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:25561519|PMID:25741868|PMID:27748960|PMID:28492532
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322467	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:32198086
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078461	BRF1	BRF1 RNA polymerase III transcription initiation factor subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1322467	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318153	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318153	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318153	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078492	ACBD4	acyl-CoA binding domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348691	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1348691	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078514	RAB11FIP4	RAB11 family interacting protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078541	TMEM52	transmembrane protein 52	gene	DOID:10534	stomach cancer		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078541	TMEM52	transmembrane protein 52	gene	DOID:1324	lung cancer		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078541	TMEM52	transmembrane protein 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078541	TMEM52	transmembrane protein 52	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12078541	TMEM52	transmembrane protein 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078550	DTD2	D-aminoacyl-tRNA deacylase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078562	WDR73	WD repeat domain 73	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1602852	D	RGD:7240710	20190313	OMIM			
12078562	WDR73	WD repeat domain 73	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1602852	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GALLOWAY-MOWAT SYNDROME 1 | ClinVar Annotator: match by term: Galloway-Mowat syndrome 1 | ClinVar Annotator: match by term: WDR73-related condition	PMID:25466283|PMID:25741868|PMID:25873735|PMID:26070982|PMID:26123727|PMID:27001912|PMID:28492532|PMID:29127259|PMID:31130284|PMID:36413997
12078562	WDR73	WD repeat domain 73	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1602852	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome	PMID:25741868
12078562	WDR73	WD repeat domain 73	gene	DOID:10534	stomach cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:31130284
12078562	WDR73	WD repeat domain 73	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078562	WDR73	WD repeat domain 73	gene	DOID:1115	sarcoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078562	WDR73	WD repeat domain 73	gene	DOID:1909	melanoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078562	WDR73	WD repeat domain 73	gene	DOID:4362	cervical cancer		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532|PMID:31130284
12078562	WDR73	WD repeat domain 73	gene	DOID:543	dystonia		ISO	RGD:1602852	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:32581362
12078562	WDR73	WD repeat domain 73	gene	DOID:630	genetic disease		ISO	RGD:1602852	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25466283|PMID:25741868|PMID:25873735|PMID:25954003|PMID:26123727|PMID:27618451|PMID:28490743|PMID:28492532|PMID:36413997|PMID:9536098
12078562	WDR73	WD repeat domain 73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078562	WDR73	WD repeat domain 73	gene	DOID:784	chronic kidney disease		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: chronic kidney disease	PMID:25741868|PMID:28492532
12078562	WDR73	WD repeat domain 73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078562	WDR73	WD repeat domain 73	gene	DOID:9008675	Dyskinesias		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:32581362
12078562	WDR73	WD repeat domain 73	gene	DOID:9008739	Athetosis		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:25741868
12078562	WDR73	WD repeat domain 73	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078574	AP1AR	adaptor related protein complex 1 associated regulatory protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078574	AP1AR	adaptor related protein complex 1 associated regulatory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078574	AP1AR	adaptor related protein complex 1 associated regulatory protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12078574	AP1AR	adaptor related protein complex 1 associated regulatory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0050562	West syndrome		ISO	RGD:1606330	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: West syndrome	PMID:25741868
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0060755	familial temporal lobe epilepsy 2		ISO	RGD:1606330	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial temporal lobe epilepsy 2	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0080422	Dravet syndrome		ISO	RGD:1606330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Severe myoclonic epilepsy in infancy	PMID:25741868
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 1	PMID:25741868|PMID:31440721
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0081423	familial focal epilepsy with variable foci 3		ISO	RGD:1606330	D	RGD:7240710	20190315	OMIM			
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:0081423	familial focal epilepsy with variable foci 3		ISO	RGD:1606330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 3 | ClinVar Annotator: match by term: NPRL3-related condition	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26285051|PMID:26505888|PMID:26786403|PMID:27173016|PMID:28492532|PMID:28726809|PMID:30093711|PMID:31440721|PMID:31594065|PMID:31639411|PMID:32086284|PMID:33749980|PMID:36937533|PMID:37491868|PMID:37812946|PMID:37902097|PMID:37946310|PMID:9536098
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1606330	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:1324	lung cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:31594065|PMID:31639411|PMID:32086284|PMID:37946310|PMID:9536098
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:2030	anxiety disorder		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure | ClinVar Annotator: match by term: partial epilepsy	PMID:25741868|PMID:28492532|PMID:37902097
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:480	movement disease		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1606330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1606330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:28492532|PMID:9536098
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9003539	Hyperacusis		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1606330	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17576681|PMID:25741868|PMID:26285051|PMID:26505888|PMID:27173016|PMID:28492532|PMID:9536098
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9007736	Vertigo		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9008421	Epistaxis		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12078594	NPRL3	NPR3 like, GATOR1 complex subunit	gene	DOID:9970	obesity		ISO	RGD:1606330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIM1-related condition	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:0080600	COVID-19		ISO	RGD:737426	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:737426	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:17157168
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:1115	sarcoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:737426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737426	D	RGD:7240710	20230505	OMIM			
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:2394	ovarian cancer		ISO	RGD:737426	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:3275	thymoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:4362	cervical cancer		ISO	RGD:737426	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17922014
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737426	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12078621	HMMR	hyaluronan mediated motility receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078647	LOC100049001	tryptase	gene	DOID:2773	contact dermatitis		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12078647	LOC100049001	tryptase	gene	DOID:65	connective tissue disease		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749843
12078647	LOC100049001	tryptase	gene	DOID:9003171	Primary Dysautonomias		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749843
12078647	LOC100049001	tryptase	gene	DOID:9006202	Pruritus		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749843
12078647	LOC100049001	tryptase	gene	DOID:9007763	Flushing		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749843
12078647	LOC100049001	tryptase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078647	LOC100049001	tryptase	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:1605426	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:27749843
12078657	LCN10	lipocalin 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078657	LCN10	lipocalin 10	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1347368	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12078657	LCN10	lipocalin 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078657	LCN10	lipocalin 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1347368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078657	LCN10	lipocalin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078657	LCN10	lipocalin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078657	LCN10	lipocalin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078657	LCN10	lipocalin 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12078657	LCN10	lipocalin 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1347368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12078678	SOCS6	suppressor of cytokine signaling 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078678	SOCS6	suppressor of cytokine signaling 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12078678	SOCS6	suppressor of cytokine signaling 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078678	SOCS6	suppressor of cytokine signaling 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078703	PATL2	PAT1 homolog 2	gene	DOID:1100	ovarian disease		ISO	RGD:1317343	D	RGD:9068941	20220825	MouseDO			
12078703	PATL2	PAT1 homolog 2	gene	DOID:1115	sarcoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078703	PATL2	PAT1 homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078703	PATL2	PAT1 homolog 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078703	PATL2	PAT1 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078703	PATL2	PAT1 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:2303478	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12078703	PATL2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:7240710	20190315	OMIM			
12078703	PATL2	PAT1 homolog 2	gene	DOID:9000602	Oocyte Maturation Defect 4		ISO	RGD:2303478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 4 | ClinVar Annotator: match by term: Oocyte maturation defect 4	PMID:24033266|PMID:25741868|PMID:28965844|PMID:28965849|PMID:29661911|PMID:32552793|PMID:33614659
12078720	MIR432	microRNA mir-432	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		mRNA:increased expression:esophagus (human)	PMID:28760781|REF_RGD_ID:153002560
12078720	MIR432	microRNA mir-432	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		human cells in mouse model	PMID:26942465|REF_RGD_ID:152999419
12078720	MIR432	microRNA mir-432	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		mRNA:decreased expression:lung (human)	PMID:26942465|REF_RGD_ID:152999419
12078720	MIR432	microRNA mir-432	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1603771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12078720	MIR432	microRNA mir-432	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		human cells in mouse model	PMID:25797263|REF_RGD_ID:11087457
12078720	MIR432	microRNA mir-432	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		mRNA:decreased expression:liver (human)	PMID:25797263|PMID:33675609|REF_RGD_ID:11087457|REF_RGD_ID:152999436
12078720	MIR432	microRNA mir-432	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1603771	D	RGD:9068941	20220721	RGD		mRNA:decreased expression:liver (human)	PMID:30086881|REF_RGD_ID:152999437
12078720	MIR432	microRNA mir-432	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1603771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12078720	MIR432	microRNA mir-432	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1603771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12078720	MIR432	microRNA mir-432	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12078825	JPT1	Jupiter microtubule associated homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078825	JPT1	Jupiter microtubule associated homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078825	JPT1	Jupiter microtubule associated homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078825	JPT1	Jupiter microtubule associated homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:1320365	D	RGD:9068941	20241226	MouseDO		OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483	
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:3275	thymoma		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:630	genetic disease		ISO	RGD:1320364	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9001722	Dysarthria		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:7240710	20190315	OMIM			
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9007487	Idiopathic Basal Ganglia Calcification 7		ISO	RGD:1320364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition	PMID:25741868|PMID:28492532|PMID:29910000|PMID:30460687|PMID:30589467|PMID:30649222|PMID:31009047|PMID:31440850|PMID:31951047|PMID:32211515
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1320364	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12078834	MYORG	myogenesis regulating glycosidase	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532|PMID:30649222|PMID:31009047|PMID:31951047|PMID:32211515
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:0060058	lymphoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:1115	sarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:1324	lung cancer		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:1909	melanoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:3275	thymoma		ISO	RGD:1323527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078846	LAPTM4B	lysosomal protein transmembrane 4 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323527	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078870	NUP93	nucleoporin 93	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078870	NUP93	nucleoporin 93	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	
12078870	NUP93	nucleoporin 93	gene	DOID:0080387	nephrotic syndrome type 12		ISO	RGD:1323029	D	RGD:7240710	20190315	OMIM			
12078870	NUP93	nucleoporin 93	gene	DOID:0080387	nephrotic syndrome type 12		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 12 | ClinVar Annotator: match by term: NUP93-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 12	PMID:25741868|PMID:26878725|PMID:28492532|PMID:29127259|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:10534	stomach cancer		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12078870	NUP93	nucleoporin 93	gene	DOID:1115	sarcoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:26878725|PMID:28492532|PMID:30655312|PMID:31315584|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1323029	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:32581362
12078870	NUP93	nucleoporin 93	gene	DOID:1324	lung cancer		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078870	NUP93	nucleoporin 93	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078870	NUP93	nucleoporin 93	gene	DOID:3275	thymoma		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12078870	NUP93	nucleoporin 93	gene	DOID:4362	cervical cancer		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:5041	esophageal cancer		ISO	RGD:1323029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078870	NUP93	nucleoporin 93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078870	NUP93	nucleoporin 93	gene	DOID:630	genetic disease		ISO	RGD:1323029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12078870	NUP93	nucleoporin 93	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12078870	NUP93	nucleoporin 93	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26878725|PMID:28492532|PMID:35026467|PMID:37762751
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:1115	sarcoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078923	CWC25	CWC25 spliceosome associated protein homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1316471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1618138	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple	PMID:18246602|REF_RGD_ID:5037232
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078940	IL20RA	interleukin 20 receptor subunit alpha	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1316471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:deletions:multiple: (human)	PMID:28464518|REF_RGD_ID:155663379
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:nonsense mutation:exon:c.1039 C>T, p.R347X (human)	PMID:29700987|REF_RGD_ID:155663377
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:0060260	ptosis		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1319911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:25741868|PMID:28386937|PMID:28492532|PMID:31250519|PMID:34906501
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1319911	D	RGD:9068941	20221111	RGD		DNA:mutations:cds:multiple (human)	PMID:36229919|REF_RGD_ID:155663359
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:2152	ovary epithelial cancer	susceptibility	ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:SNP:CDS:rs237028 (human)	PMID:31485280|REF_RGD_ID:155663376
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319912	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:34331613|REF_RGD_ID:155663371
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1319912	D	RGD:9068941	20221117	RGD			PMID:32506869|REF_RGD_ID:155663374
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA:increased expression:lung (human)	PMID:34551195|REF_RGD_ID:155663369
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:5644	tricuspid valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid valve prolapse	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:synovial (human)	PMID:22660635|REF_RGD_ID:155663483
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319912	D	RGD:9068941	20221117	RGD			PMID:22972987|REF_RGD_ID:155663421
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:7240710	20180130	OMIM			
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9007753	Congenital Heart Defects, Multiple Types, 2		ISO	RGD:1319911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DISEASE, MULTIPLE TYPES, 2 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 2 | ClinVar Annotator: match by term: Congenital heart defects, nonsyndromic, 2 | ClinVar Annotator: match by term: TAB2-related condition | ClinVar Annotator: match by term: TAB2-related disorder | ClinVar Annotator: match by term: congenital heart defects, multiple types, 2	PMID:20493459|PMID:25741868|PMID:28386937|PMID:28492532|PMID:29700987|PMID:31250519|PMID:33131162|PMID:34741306|PMID:34906501|PMID:34995729|PMID:35971781|PMID:36229919
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		DNA:mutation, translocation:cds:c.622C>T p.Pro208Ser|c.688C>A p.Gln230Lys, t(2;6)(q21;q25)	PMID:20493459|REF_RGD_ID:155663487
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1319911	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:kidney (human)	PMID:22660635|REF_RGD_ID:155663483
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:988	mitral valve prolapse		ISO	RGD:1319911	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
12078953	TAB2	TGF-beta activated kinase 1 (MAP3K7) binding protein 2	gene	DOID:9993	hypoglycemia		ISO	RGD:1319911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:36229919
12078974	ZNF526	zinc finger protein 526	gene	DOID:1059	intellectual disability		ISO	RGD:1602838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12078974	ZNF526	zinc finger protein 526	gene	DOID:1909	melanoma		ISO	RGD:1602838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
12078974	ZNF526	zinc finger protein 526	gene	DOID:3070	high grade glioma		ISO	RGD:1602838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12078974	ZNF526	zinc finger protein 526	gene	DOID:5041	esophageal cancer		ISO	RGD:1602838	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078974	ZNF526	zinc finger protein 526	gene	DOID:630	genetic disease		ISO	RGD:1602838	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12078974	ZNF526	zinc finger protein 526	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1602838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12078974	ZNF526	zinc finger protein 526	gene	DOID:9002634	DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1602838	D	RGD:7240710	20220615	OMIM			
12078974	ZNF526	zinc finger protein 526	gene	DOID:9002634	DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1602838	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Dentici-Novelli neurodevelopmental syndrome | ClinVar Annotator: match by term: ZNF526-related condition	PMID:25741868|PMID:28492532
12078996	ACKR2	atypical chemokine receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1353783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12078996	ACKR2	atypical chemokine receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353783	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12078996	ACKR2	atypical chemokine receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12078996	ACKR2	atypical chemokine receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12078996	ACKR2	atypical chemokine receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353783	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:0060535	Warsaw breakage syndrome		ISO	RGD:1315426	D	RGD:7240710	20180130	OMIM			
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:0060535	Warsaw breakage syndrome		ISO	RGD:1315426	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WARSAW BREAKAGE SYNDROME | ClinVar Annotator: match by term: Warsaw breakage syndrome	PMID:16199547|PMID:20696886|PMID:23033317|PMID:25741868|PMID:26089203|PMID:30216658|PMID:32071282|PMID:32855419|PMID:33669056|PMID:34906519|PMID:37838930
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:10907	microcephaly		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:1324	lung cancer		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:1826	epilepsy		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:1909	melanoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:3275	thymoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1315426	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1315426	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:630	genetic disease		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32855419
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9003507	Premature Birth		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:1315426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25561740
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:34906519
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:30216658
12079017	DDX11	DEAD/H-box helicase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:32855419
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:733945	D	RGD:9068941	20231109	RGD		DNA:SNP::-243A>G (rs2236418)	PMID:17034009|REF_RGD_ID:401900120
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:2653	D	RGD:9068941	20231109	RGD		associated with alcohol dependence:protein:increased expression:cerebral cortex	PMID:15976529|REF_RGD_ID:1643202
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:0060041	autism spectrum disorder	sexual_dimorphism	ISO	RGD:2653	D	RGD:9068941	20231116	RGD			PMID:27353514|REF_RGD_ID:401900600
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:11714	gestational diabetes		ISO	RGD:733945	D	RGD:9068941	20200609	RGD			PMID:18588707|REF_RGD_ID:2313295
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:11832	visual epilepsy		ISO	RGD:733945	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:8954991|PMID:8985701
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:1470	major depressive disorder		ISO	RGD:733945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:1742	drug psychosis	susceptibility	ISO	RGD:733945	D	RGD:9068941	20231109	RGD		associated with amphetamine abuse; DNA:SNP: :rs2236418(human)	PMID:27967329|REF_RGD_ID:401900122
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:1826	epilepsy		ISO	RGD:10616	D	RGD:9068941	20220825	MouseDO			
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:1826	epilepsy		ISO	RGD:2653	D	RGD:9068941	20231116	RGD			PMID:14620876|REF_RGD_ID:401900594
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:2653	D	RGD:9068941	20231116	RGD			PMID:20659561|REF_RGD_ID:401900597
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:2653	D	RGD:9068941	20240504	RGD			PMID:34189720|REF_RGD_ID:405650687
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:733945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:5419	schizophrenia		ISO	RGD:733945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15560956|PMID:18923069
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:5419	schizophrenia		ISO	RGD:733945	D	RGD:9068941	20200609	RGD		protein:increased expression:posterior subiculum, parahippocampal gyrus	PMID:21250934|REF_RGD_ID:6480427
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:733945	D	RGD:9068941	20231109	RGD		DNA:SNP: :rs2236418(human)	PMID:27967329|REF_RGD_ID:401900122
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:733945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21412422
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:733945	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9007090	Experimental Seizures	susceptibility	ISO	RGD:10616	D	RGD:9068941	20241114	RGD			PMID:8954991|REF_RGD_ID:1302511
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10616	D	RGD:9068941	20200609	RGD			PMID:19188044|REF_RGD_ID:2313292
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10616	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733945	D	RGD:9068941	20200609	RGD			PMID:19085183|REF_RGD_ID:2313294
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:10616	D	RGD:9068941	20200609	RGD			PMID:18005036|REF_RGD_ID:2313296
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:733945	D	RGD:9068941	20200609	RGD			PMID:19741189|REF_RGD_ID:2313289
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9975	cocaine dependence		ISO	RGD:733945	D	RGD:9068941	20231109	RGD		mRNA:decreased expression:hippocampus	PMID:22253714|REF_RGD_ID:401900163
12079052	GAD2	glutamate decarboxylase 2	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:733945	D	RGD:9068941	20231109	RGD		DNA:SNP: ::rs8190646(human)	PMID:19500151|REF_RGD_ID:5509583
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:10534	stomach cancer		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:1115	sarcoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079071	CNOT8	CCR4-NOT transcription complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0060157	diffuse alopecia areata		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patchy alopecia	PMID:28492532
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0111973	immunodeficiency 17		ISO	RGD:1317072	D	RGD:7240710	20180130	OMIM			
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:0111973	immunodeficiency 17		ISO	RGD:1317072	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CD3G-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 17	PMID:1635567|PMID:25741868|PMID:28492532|PMID:29653965
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1317072	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:1635567|PMID:17277165|PMID:24910257|PMID:25741868|PMID:28492532|PMID:31921117
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9002720	Splenomegaly		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:28492532
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:28492532
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9005777	Nevus of Ota		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus of Ota	PMID:28492532
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079085	CD3G	CD3 gamma subunit of T-cell receptor complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1344610	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:19878917|REF_RGD_ID:7175555
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0111708	focal nonepidermolytic palmoplantar keratoderma		ISO	RGD:1344610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated focal non-epidermolytic palmoplantar keratoderma	PMID:25741868|PMID:28492532
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0111711	focal nonepidermolytic palmoplantar keratoderma 2		ISO	RGD:1344610	D	RGD:7240710	20180130	OMIM			
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0111711	focal nonepidermolytic palmoplantar keratoderma 2		ISO	RGD:1344610	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma, nonepidermolytic, focal 2 | ClinVar Annotator: match by term: TRPV3-related condition	PMID:25741868|PMID:28492532
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1344610	D	RGD:7240710	20200826	OMIM			
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:0112013	autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OLMSTED SYNDROME 1 | ClinVar Annotator: match by term: Olmsted syndrome 1	PMID:22405088|PMID:24452206|PMID:25741868|PMID:27273692|PMID:28492532|PMID:28587736|PMID:32795529
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:10024	migraine with aura		ISO	RGD:1344610	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.36670T>C rs7217270 (human)	PMID:22162417|REF_RGD_ID:7175557
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:1115	sarcoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:1324	lung cancer		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1557695	D	RGD:9068941	20200609	RGD			PMID:22284622|REF_RGD_ID:7175554
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:2723	dermatitis		ISO	RGD:1564531	D	RGD:9068941	20211029	RGD		DNA:missense mutation:cds:G1717T (rat)	PMID:16858425|REF_RGD_ID:150520053
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:3310	atopic dermatitis		ISO	RGD:1557695	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:5419	schizophrenia		ISO	RGD:1344610	D	RGD:9068941	20200609	RGD		DNA:snps:intron:g.109277T>C, g.110078T>C (rs10162727, rs1035706) (human)	PMID:21970977|REF_RGD_ID:7175558
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:630	genetic disease		ISO	RGD:1344610	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:8881	rosacea		ISO	RGD:1344610	D	RGD:9068941	20200609	RGD		Erythematotelangiectatic Rosacea, Phymatous Rosacea; protein:increased expression:dermis (human)	PMID:22189789|REF_RGD_ID:7175556
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:9002221	Hyperplasia		ISO	RGD:1344610	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: therapeutic	PMID:32535744
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344610	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1344610	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.558A>C rs11078458 (human)	PMID:20042636|REF_RGD_ID:7183081
12079098	TRPV3	transient receptor potential cation channel subfamily V member 3	gene	DOID:987	alopecia		ISO	RGD:1564531	D	RGD:9068941	20211029	RGD		DNA:missense mutation:cds:G1717T (rat)	PMID:16858425|REF_RGD_ID:150520053
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:19360458|REF_RGD_ID:11040460
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:0111044	gray platelet syndrome		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:c.859C>T, p.Gln287X(human)	PMID:24325358|REF_RGD_ID:11040508
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:0111049	platelet-type bleeding disorder 17		ISO	RGD:1323334	D	RGD:7240710	20190320	OMIM			
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:0111049	platelet-type bleeding disorder 17		ISO	RGD:1323334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 17 | ClinVar Annotator: match by term: GFI1B-related condition | ClinVar Annotator: match by term: Platelet-type bleeding disorder 17	PMID:20861919|PMID:23927492|PMID:24325358|PMID:25258084|PMID:25741868|PMID:27651169|PMID:28041820|PMID:28492532|PMID:28550182|PMID:28880435|PMID:29143464|PMID:30349881|PMID:30573501|PMID:31207059|PMID:32633597|PMID:32935436|PMID:34355501|PMID:36833422|PMID:37647632|PMID:5681484
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1323334	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:12449	aplastic anemia		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone marrow cell:	PMID:17156408|REF_RGD_ID:11040507
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:1247	blood coagulation disease		ISO	RGD:1323334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:23927492|PMID:24325358|PMID:25258084|PMID:25741868|PMID:27651169|PMID:28041820|PMID:28492532|PMID:28550182|PMID:28880435|PMID:29143464|PMID:30349881|PMID:30573501|PMID:31207059|PMID:32633597|PMID:32935436|PMID:34355501|PMID:36833422|PMID:37647632
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323334	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1323334	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Storage pool disease of platelets	PMID:25741868
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:630	genetic disease		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:34355501
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow cell:	PMID:17156408|REF_RGD_ID:11040507
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow cell:	PMID:17156408|REF_RGD_ID:11040507
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:19360458|REF_RGD_ID:11040460
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9003507	Premature Birth		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow cell:	PMID:17156408|REF_RGD_ID:11040507
12079122	GFI1B	growth factor independent 1B transcriptional repressor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1323334	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:19360458|REF_RGD_ID:11040460
12079162	TMEM51	transmembrane protein 51	gene	DOID:10534	stomach cancer		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079162	TMEM51	transmembrane protein 51	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079162	TMEM51	transmembrane protein 51	gene	DOID:5041	esophageal cancer		ISO	RGD:1602878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079162	TMEM51	transmembrane protein 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079194	WIPF2	WAS/WASL interacting protein family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079194	WIPF2	WAS/WASL interacting protein family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079194	WIPF2	WAS/WASL interacting protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1603178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079194	WIPF2	WAS/WASL interacting protein family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079219	PRAP1	proline rich acidic protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079236	ELOVL7	ELOVL fatty acid elongase 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079253	CD79B	CD79b molecule	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:730908	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:21173233
12079253	CD79B	CD79b molecule	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:730908	D	RGD:9068941	20260521	RGD		DNA:missense mutation:multiple, exon 5-6 (human)	PMID:25347427|REF_RGD_ID:11075852
12079253	CD79B	CD79b molecule	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:730908	D	RGD:9068941	20260521	RGD		DNA:mutation:multiple (human)	PMID:28803429|REF_RGD_ID:151665120
12079253	CD79B	CD79b molecule	gene	DOID:0050745	diffuse large B-cell lymphoma	severity	ISO	RGD:730908	D	RGD:9068941	20220317	RGD		DNA:missense mutation:multiple, exon 5 (human)	PMID:31609782|REF_RGD_ID:151665203
12079253	CD79B	CD79b molecule	gene	DOID:0050745	diffuse large B-cell lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220311	RGD			PMID:25708834|REF_RGD_ID:151665133
12079253	CD79B	CD79b molecule	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:730908	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, B cell (human)	PMID:10329919|REF_RGD_ID:11531139
12079253	CD79B	CD79b molecule	gene	DOID:0050746	mantle cell lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220317	RGD		human cells in mouse model	PMID:17374736|REF_RGD_ID:151665154
12079253	CD79B	CD79b molecule	gene	DOID:0050750	splenic marginal zone lymphoma		ISO	RGD:730908	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, B cell (human)	PMID:10329919|REF_RGD_ID:11531139
12079253	CD79B	CD79b molecule	gene	DOID:0050873	follicular lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220317	RGD		human cells in mouse model	PMID:17374736|REF_RGD_ID:151665154
12079253	CD79B	CD79b molecule	gene	DOID:0060060	non-Hodgkin lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220311	RGD		human cells in mouse model	PMID:19633198|REF_RGD_ID:151665149
12079253	CD79B	CD79b molecule	gene	DOID:0081138	agammaglobulinemia 6		ISO	RGD:730908	D	RGD:7240710	20180130	OMIM			
12079253	CD79B	CD79b molecule	gene	DOID:0081138	agammaglobulinemia 6		ISO	RGD:730908	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 6 | ClinVar Annotator: match by term: Agammaglobulinemia 6, autosomal recessive	PMID:16199547|PMID:17576681|PMID:17709424|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
12079253	CD79B	CD79b molecule	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:730908	D	RGD:9068941	20220311	RGD		protein:decreased expression:blood cells (human)	PMID:10753858|REF_RGD_ID:151665152
12079253	CD79B	CD79b molecule	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:730908	D	RGD:9068941	20220311	RGD		protein:decreased expression:peripheral blood cells (human)	PMID:10516749|REF_RGD_ID:151665125
12079253	CD79B	CD79b molecule	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:730908	D	RGD:9068941	20220317	RGD		mRNA, protein:splice variants, alternative forms:exon 3 (human)	PMID:10090943|REF_RGD_ID:151665190
12079253	CD79B	CD79b molecule	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:730908	D	RGD:9068941	20220317	RGD		protein:decreased expression:blood, B cell (human)	PMID:10329919|REF_RGD_ID:11531139
12079253	CD79B	CD79b molecule	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:28619981|PMID:35101336
12079253	CD79B	CD79b molecule	gene	DOID:2583	agammaglobulinemia		ISO	RGD:730908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12079253	CD79B	CD79b molecule	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:730908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:11160144|PMID:27993330|PMID:31402495
12079253	CD79B	CD79b molecule	gene	DOID:3234	central nervous system lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220317	RGD			PMID:28619981|REF_RGD_ID:151665208
12079253	CD79B	CD79b molecule	gene	DOID:3275	thymoma		ISO	RGD:730908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079253	CD79B	CD79b molecule	gene	DOID:409	liver disease		ISO	RGD:730908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12079253	CD79B	CD79b molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730908	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079253	CD79B	CD79b molecule	gene	DOID:8584	Burkitt lymphoma	treatment	ISO	RGD:730908	D	RGD:9068941	20220317	RGD		human cells in mouse model	PMID:17374736|REF_RGD_ID:151665154
12079253	CD79B	CD79b molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:730908	D	RGD:9068941	20200609	RGD		protein:decreased expression:B lymphocyte, cell surface (human)	PMID:9269755|REF_RGD_ID:11250403
12079253	CD79B	CD79b molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:730908	D	RGD:9068941	20220317	RGD		DNA:polymorphism:multiple (human)	PMID:10552962|REF_RGD_ID:151665202
12079253	CD79B	CD79b molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:730908	D	RGD:9068941	20220317	RGD		mRNA, protein:splice variants, alternative forms:exon 3 (human)	PMID:10090943|REF_RGD_ID:151665190
12079253	CD79B	CD79b molecule	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:730908	D	RGD:9068941	20200609	RGD		protein:decreased expression:bone marrow, mononuclear cell (human)	PMID:21487112|REF_RGD_ID:11250414
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1604360	D	RGD:9068941	20200609	RGD		DNA:snps:intron:IVS1+1057C>A rs4492666, IVS1-928C>A rs11211524 (human)	PMID:21642870|REF_RGD_ID:5133252
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079269	CMPK1	cytidine/uridine monophosphate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:1115	sarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:1909	melanoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:5041	esophageal cancer		ISO	RGD:1323490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079279	MRPS27	mitochondrial ribosomal protein S27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079297	SWSAP1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079297	SWSAP1	SWIM-type zinc finger 7 associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079305	CPM	carboxypeptidase M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079305	CPM	carboxypeptidase M	gene	DOID:10325	silicosis		ISO	RGD:1321490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24986923
12079305	CPM	carboxypeptidase M	gene	DOID:12849	autistic disorder		ISO	RGD:1321490	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12079305	CPM	carboxypeptidase M	gene	DOID:1324	lung cancer		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079305	CPM	carboxypeptidase M	gene	DOID:289	endometriosis		ISO	RGD:1321490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12079305	CPM	carboxypeptidase M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079305	CPM	carboxypeptidase M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079320	REC114	REC114 meiotic recombination protein	gene	DOID:4362	cervical cancer		ISO	RGD:2307386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079320	REC114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:7240710	20210303	OMIM			
12079320	REC114	REC114 meiotic recombination protein	gene	DOID:9002039	Oocyte/Zygote/Embryo Maturation Arrest 10		ISO	RGD:2307386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 10 | ClinVar Annotator: match by term: REC114-related condition	PMID:25741868|PMID:28492532
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1313406	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: autosomal recessive primary microcephaly	PMID:25741868
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:0081222	autosomal recessive intellectual developmental disorder 60		ISO	RGD:1313406	D	RGD:7240710	20190315	OMIM			
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:0081222	autosomal recessive intellectual developmental disorder 60		ISO	RGD:1313406	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 60 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 60 | ClinVar Annotator: match by term: TAF13-related condition	PMID:25741868|PMID:28257693
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:3275	thymoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:4362	cervical cancer		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:5419	schizophrenia		ISO	RGD:1313406	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:630	genetic disease		ISO	RGD:1313406	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12079335	TAF13	TATA-box binding protein associated factor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:1909	melanoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079343	ZBBX	zinc finger B-box domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079416	MIR421	microRNA mir-421	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1603134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12079416	MIR421	microRNA mir-421	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12079419	MIR153	microRNA mir-153	gene	DOID:5082	liver cirrhosis		ISO	RGD:1608320	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12079419	MIR153	microRNA mir-153	gene	DOID:9000998	Brain Injuries		ISO	RGD:2325563	D	RGD:9068941	20200609	RGD			PMID:25089700|REF_RGD_ID:11576302
12079441	GNA12	G protein subunit alpha 12	gene	DOID:10534	stomach cancer		ISO	RGD:732491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079441	GNA12	G protein subunit alpha 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079441	GNA12	G protein subunit alpha 12	gene	DOID:8577	ulcerative colitis		ISO	RGD:732491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
12079441	GNA12	G protein subunit alpha 12	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12079455	RBP1	retinol binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732391	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12079455	RBP1	retinol binding protein 1	gene	DOID:305	carcinoma		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12079455	RBP1	retinol binding protein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16134180|PMID:16367923
12079455	RBP1	retinol binding protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12079455	RBP1	retinol binding protein 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
12079455	RBP1	retinol binding protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3543	D	RGD:9068941	20220331	RGD		mRNA, protein:increased expression:mammary gland (rat)	PMID:12376462|REF_RGD_ID:2292404
12079455	RBP1	retinol binding protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12079455	RBP1	retinol binding protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16099942
12079455	RBP1	retinol binding protein 1	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:732391	D	RGD:9068941	20230928	RGD		DNA:hypermethylation: :	PMID:23699600|REF_RGD_ID:11073605
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:0070297	primary microcephaly		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25558065|PMID:25741868
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1607029	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065|PMID:25741868
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:3275	thymoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1607029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079506	INO80	INO80 complex ATPase subunit	gene	DOID:9220	central sleep apnea		ISO	RGD:1607029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea, central sleep	PMID:25741868
12079546	BRD3	bromodomain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079546	BRD3	bromodomain containing 3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24231268
12079546	BRD3	bromodomain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079546	BRD3	bromodomain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079546	BRD3	bromodomain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079546	BRD3	bromodomain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079546	BRD3	bromodomain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079546	BRD3	bromodomain containing 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1318974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12079546	BRD3	bromodomain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079546	BRD3	bromodomain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079546	BRD3	bromodomain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079546	BRD3	bromodomain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079546	BRD3	bromodomain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079586	INSL3	insulin like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12079586	INSL3	insulin like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079586	INSL3	insulin like 3	gene	DOID:11383	cryptorchidism		ISO	RGD:736797	D	RGD:7240710	20180130	OMIM			
12079586	INSL3	insulin like 3	gene	DOID:11383	cryptorchidism		ISO	RGD:736797	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: CRYPTORCHIDISM | ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: Undescended testes	PMID:25741868
12079586	INSL3	insulin like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:736797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079586	INSL3	insulin like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12079586	INSL3	insulin like 3	gene	DOID:630	genetic disease		ISO	RGD:736797	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11095425|PMID:37208861|PMID:41369823
12079586	INSL3	insulin like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079586	INSL3	insulin like 3	gene	DOID:9256	colorectal cancer		ISO	RGD:736797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:0060058	lymphoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:10534	stomach cancer		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:1115	sarcoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:1909	melanoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:3068	glioblastoma		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17233834
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17443689
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12079590	RECK	reversion inducing cysteine rich protein with kazal motifs	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20127710
12079627	GCG	glucagon	gene	DOID:0060180	colitis		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22323126
12079627	GCG	glucagon	gene	DOID:10652	Alzheimer's disease		ISO	RGD:68970	D	RGD:9068941	20200609	RGD			PMID:23035082|REF_RGD_ID:10402366
12079627	GCG	glucagon	gene	DOID:10763	hypertension		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12079627	GCG	glucagon	gene	DOID:114	heart disease		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3277781
12079627	GCG	glucagon	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:69995
12079627	GCG	glucagon	gene	DOID:11716	prediabetes syndrome		ISO	RGD:68970	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19654434|REF_RGD_ID:2313224
12079627	GCG	glucagon	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
12079627	GCG	glucagon	gene	DOID:178	vascular disease		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10464538
12079627	GCG	glucagon	gene	DOID:2018	hyperinsulinism		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3019152
12079627	GCG	glucagon	gene	DOID:4195	hyperglycemia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18669601|PMID:3019152
12079627	GCG	glucagon	gene	DOID:6000	congestive heart failure		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7608802
12079627	GCG	glucagon	gene	DOID:76	stomach disease		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17891687
12079627	GCG	glucagon	gene	DOID:9000046	Poisoning		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7629900
12079627	GCG	glucagon	gene	DOID:9001109	Anorexia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21824258|PMID:28633506
12079627	GCG	glucagon	gene	DOID:9001581	Constipation		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12107204
12079627	GCG	glucagon	gene	DOID:9001661	Taste Disorders		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21824258
12079627	GCG	glucagon	gene	DOID:9002362	Hyperkinesis		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9798264
12079627	GCG	glucagon	gene	DOID:9002395	Hypothermia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10464538
12079627	GCG	glucagon	gene	DOID:9002554	Tachycardia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7629900
12079627	GCG	glucagon	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22323126
12079627	GCG	glucagon	gene	DOID:9003805	Catalepsy		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9798264
12079627	GCG	glucagon	gene	DOID:9005100	Aberrant Crypt Foci		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22323126
12079627	GCG	glucagon	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2668	D	RGD:9068941	20200609	RGD			PMID:18996945|REF_RGD_ID:10402370
12079627	GCG	glucagon	gene	DOID:9006024	Hypotension		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3277781|PMID:8517581
12079627	GCG	glucagon	gene	DOID:9006462	Coma		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10464538
12079627	GCG	glucagon	gene	DOID:9006638	Sinus Tachycardia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7359351
12079627	GCG	glucagon	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10626	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12079627	GCG	glucagon	gene	DOID:9006743	Spasm		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7192515
12079627	GCG	glucagon	gene	DOID:9007001	Bradycardia		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3277781|PMID:3736332|PMID:6542785|PMID:7787496|PMID:9674488
12079627	GCG	glucagon	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:68970	D	RGD:9068941	20200609	RGD			PMID:24125539|REF_RGD_ID:10402369
12079627	GCG	glucagon	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23466488
12079627	GCG	glucagon	gene	DOID:9970	obesity		ISO	RGD:68970	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20065960
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:0050866	oral squamous cell carcinoma	treatment	ISO	RGD:1349944	D	RGD:9068941	20220526	RGD			PMID:21176871|REF_RGD_ID:152600900
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:10534	stomach cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:1115	sarcoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:1324	lung cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220526	RGD		DNA:SNP: :rs989902(human)	PMID:24338422|REF_RGD_ID:152599188
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:1909	melanoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:219	colon cancer	treatment	ISO	RGD:1349944	D	RGD:9068941	20220527	RGD			PMID:29899829|REF_RGD_ID:152975627
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1563360	D	RGD:9068941	20220527	RGD		mRNA,protein:increased expression:cerebral cortex:	PMID:18096138|REF_RGD_ID:4142863
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:2843	long QT syndrome		ISO	RGD:1349944	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3070	high grade glioma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3275	thymoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1349944	D	RGD:9068941	20220526	RGD		protein:increased expression:stomach	PMID:10660140|REF_RGD_ID:152599189
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3717	gastric adenocarcinoma	disease_progression	ISO	RGD:1349944	D	RGD:9068941	20220527	RGD			PMID:32536826|REF_RGD_ID:152975628
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		mRNA,protein:decreased expression:lung	PMID:22245727|REF_RGD_ID:152176663
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD			PMID:23906871|REF_RGD_ID:152176664
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	PMID:19672627|REF_RGD_ID:152176665
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		mRNA,protein:decreased expression:lung	PMID:22245727|REF_RGD_ID:152176663
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1349944	D	RGD:9068941	20220527	RGD			PMID:33536603|REF_RGD_ID:152975626
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	PMID:19672627|REF_RGD_ID:152176665
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:4362	cervical cancer		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:4556	lung large cell carcinoma		ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		mRNA,protein:decreased expression:lung	PMID:22245727|REF_RGD_ID:152176663
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1349944	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		DNA:SNPs:cds:c.4566 A>G(I1522M)(rs2230600), c.6241 T>G (Y2081D)(rs989902)(human)	PMID:19892796|REF_RGD_ID:152176661
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:5520	head and neck squamous cell carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	PMID:19672627|REF_RGD_ID:152176665
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1349944	D	RGD:9068941	20220526	RGD			PMID:26801674|REF_RGD_ID:152176666
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220526	RGD		DNA:SNP: :p.Y2081D(human)	PMID:16489062|REF_RGD_ID:152599190
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		associated with  lung squamous cell carcinoma; protein:decreased expression:lymph node	PMID:23906871|REF_RGD_ID:152176664
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1349944	D	RGD:9068941	20220512	RGD		DNA:missense mutations:cds:p.I1522M, p.Y2081D (human)	PMID:19672627|REF_RGD_ID:152176665
12079637	PTPN13	protein tyrosine phosphatase non-receptor type 13	gene	DOID:9849	Meniere's disease		ISO	RGD:1349944	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
12079702	IL6	interleukin 6	gene	DOID:0040084	Streptococcus pneumonia		ISO	RGD:10802	D	RGD:9068941	20201117	RGD		protein:increased expression:lung,natural killer cell (mouse)	PMID:21887255|REF_RGD_ID:40818252
12079702	IL6	interleukin 6	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10374863|REF_RGD_ID:11060275
12079702	IL6	interleukin 6	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1352582	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
12079702	IL6	interleukin 6	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:18159174|REF_RGD_ID:2317165
12079702	IL6	interleukin 6	gene	DOID:0050685	small cell carcinoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20592377|REF_RGD_ID:4143263
12079702	IL6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with  Premature Birth;protein:increased expression:tracheal aspirate fluid:	PMID:25011638|REF_RGD_ID:12791291
12079702	IL6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression: cervicovaginal fluid :	PMID:25687566|REF_RGD_ID:12792243
12079702	IL6	interleukin 6	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15547537|REF_RGD_ID:5128667
12079702	IL6	interleukin 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
12079702	IL6	interleukin 6	gene	DOID:0050742	nicotine dependence		ISO	RGD:1352582	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
12079702	IL6	interleukin 6	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20668869|REF_RGD_ID:4143251
12079702	IL6	interleukin 6	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:24625449|REF_RGD_ID:9589120
12079702	IL6	interleukin 6	gene	DOID:0051061	stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18319729
12079702	IL6	interleukin 6	gene	DOID:0051061	stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:14512079|REF_RGD_ID:1580486
12079702	IL6	interleukin 6	gene	DOID:0051064	left ventricular failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16286589
12079702	IL6	interleukin 6	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12079702	IL6	interleukin 6	gene	DOID:0060180	colitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22410118|PMID:24548422
12079702	IL6	interleukin 6	gene	DOID:0060496	respiratory allergy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18394133
12079702	IL6	interleukin 6	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6952003, rs7801617, rs10156056 (human)	PMID:19573080|REF_RGD_ID:11049165
12079702	IL6	interleukin 6	gene	DOID:0060901	lymphoplasmacytic lymphoma	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
12079702	IL6	interleukin 6	gene	DOID:0070658	alcohol-associated liver disease	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20250403	RGD		protein:increased expression:liver	PMID:12878926|REF_RGD_ID:598108047
12079702	IL6	interleukin 6	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD			PMID:27576501|PMID:31116255|REF_RGD_ID:407424600|REF_RGD_ID:598148158
12079702	IL6	interleukin 6	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:2901	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
12079702	IL6	interleukin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs10499563, rs1800795 (human)	PMID:27730688|REF_RGD_ID:14975293
12079702	IL6	interleukin 6	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,plasma	PMID:18510618|REF_RGD_ID:7829808
12079702	IL6	interleukin 6	gene	DOID:0080333	aortic valve disease 1	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23969418|REF_RGD_ID:12792206
12079702	IL6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28852433|REF_RGD_ID:14975143
12079702	IL6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:10802	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
12079702	IL6	interleukin 6	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250410	RGD			PMID:31861497|REF_RGD_ID:598130071
12079702	IL6	interleukin 6	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Severe Acute Respiratory Syndrome;protein:increased expression:lung	PMID:19906920|REF_RGD_ID:4891446
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19		ISO	RGD:1352582	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32026671|PMID:32161940|PMID:32171193|PMID:32534021
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200618	RGD			PMID:32407836|REF_RGD_ID:30309206
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200625	RGD		associated with cardiovascular system disease;protein:increased expression:blood (human)	PMID:32456948|REF_RGD_ID:30309957
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200625	RGD		protein:increased expression:blood (human)	PMID:32181911|REF_RGD_ID:30310230
12079702	IL6	interleukin 6	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352582	D	RGD:9068941	20200723	RGD		protein:increased expression:serum (human)	PMID:32125452|PMID:32164089|PMID:32227274|PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368|REF_RGD_ID:36049814
12079702	IL6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
12079702	IL6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
12079702	IL6	interleukin 6	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200625	RGD		protein:increased expression:serum:	PMID:30634407|REF_RGD_ID:30309958
12079702	IL6	interleukin 6	gene	DOID:0080743	transverse myelitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebral spinal fluid:	PMID:20128675|REF_RGD_ID:7829722
12079702	IL6	interleukin 6	gene	DOID:0080745	polymyositis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
12079702	IL6	interleukin 6	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:19050604|REF_RGD_ID:11062108
12079702	IL6	interleukin 6	gene	DOID:0080998	acute necrotizing pancreatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:11780340|REF_RGD_ID:11062058
12079702	IL6	interleukin 6	gene	DOID:0111157	Castleman disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15182131
12079702	IL6	interleukin 6	gene	DOID:10140	dry eye syndrome	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with arthritis,rehumatoid arthritis;DNA:polymorphims:promoter:-174G>C(human)	PMID:18419107|REF_RGD_ID:7829751
12079702	IL6	interleukin 6	gene	DOID:10247	pleurisy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422
12079702	IL6	interleukin 6	gene	DOID:10322	berylliosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8428540
12079702	IL6	interleukin 6	gene	DOID:10325	silicosis	treatment	ISO	RGD:10802	D	RGD:9068941	20260214	RGD			PMID:39550922|REF_RGD_ID:632518405
12079702	IL6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
12079702	IL6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2069837 (human)	PMID:27049718|REF_RGD_ID:14975290
12079702	IL6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1800796, rs10499563 (human)	PMID:28442395|REF_RGD_ID:14975291
12079702	IL6	interleukin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352582	D	RGD:9068941	20210528	RGD		human cells in mouse model;associated with mental depression; protein:increased expression:blood serum, stomach (human)	PMID:31396300|REF_RGD_ID:126908003
12079702	IL6	interleukin 6	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6949149 (human)	PMID:28442395|REF_RGD_ID:14975291
12079702	IL6	interleukin 6	gene	DOID:10591	pre-eclampsia	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230323	RGD			PMID:31203154|REF_RGD_ID:213230155
12079702	IL6	interleukin 6	gene	DOID:10608	celiac disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:18692934|REF_RGD_ID:2307292
12079702	IL6	interleukin 6	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27088818|REF_RGD_ID:11062148
12079702	IL6	interleukin 6	gene	DOID:1073	renal hypertension		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22188107|REF_RGD_ID:6907405
12079702	IL6	interleukin 6	gene	DOID:10754	otitis media		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:middle ear,inner ear:	PMID:21271590|REF_RGD_ID:8547980
12079702	IL6	interleukin 6	gene	DOID:10754	otitis media		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:middle ear:	PMID:11165648|REF_RGD_ID:7829801
12079702	IL6	interleukin 6	gene	DOID:10754	otitis media		ISO	RGD:8766282	D	RGD:9068941	20200609	RGD			PMID:10085040|REF_RGD_ID:11553900
12079702	IL6	interleukin 6	gene	DOID:10754	otitis media	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:17908769|REF_RGD_ID:7365054
12079702	IL6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19043252|REF_RGD_ID:2307283
12079702	IL6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:27292124|PMID:27659729|PMID:27847271|PMID:32147540|PMID:32165127
12079702	IL6	interleukin 6	gene	DOID:10763	hypertension		ISO	RGD:1352582	D	RGD:9068941	20230720	RGD		protein:increased expression:blood serum (human)	PMID:26502942|REF_RGD_ID:329955577
12079702	IL6	interleukin 6	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200806	RGD		associated with end stage renal disease; DNA:polymorphisms:promoter: -174G>C (human)	PMID:12846758|REF_RGD_ID:1580485
12079702	IL6	interleukin 6	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor:	PMID:22490043|REF_RGD_ID:7829793
12079702	IL6	interleukin 6	gene	DOID:10914	amnestic disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9189931
12079702	IL6	interleukin 6	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:16648144|REF_RGD_ID:1580488
12079702	IL6	interleukin 6	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Otitis Media;protein:increased expression:ear:	PMID:21311206|REF_RGD_ID:7364848
12079702	IL6	interleukin 6	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:ear:	PMID:8652157|REF_RGD_ID:7829727
12079702	IL6	interleukin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079702	IL6	interleukin 6	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1352582	D	RGD:9068941	20201105	RGD		protein:decreased expression:peripheral blood mononuclear cells (human)	PMID:23754510|REF_RGD_ID:40400714
12079702	IL6	interleukin 6	gene	DOID:1123	spondyloarthropathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:9489833|REF_RGD_ID:7829742
12079702	IL6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16613997|REF_RGD_ID:11049462
12079702	IL6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:16932226|REF_RGD_ID:11062099
12079702	IL6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Fever, Crimean	PMID:16518755|REF_RGD_ID:10450536
12079702	IL6	interleukin 6	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16810104|REF_RGD_ID:11060278
12079702	IL6	interleukin 6	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion	PMID:20519054|REF_RGD_ID:5128675
12079702	IL6	interleukin 6	gene	DOID:11476	osteoporosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15995586
12079702	IL6	interleukin 6	gene	DOID:11563	retinal vasculitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:19834028|REF_RGD_ID:11039401
12079702	IL6	interleukin 6	gene	DOID:11714	gestational diabetes		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19408175|REF_RGD_ID:2307186
12079702	IL6	interleukin 6	gene	DOID:11716	prediabetes syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19442860|REF_RGD_ID:2307180
12079702	IL6	interleukin 6	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic;protein:increased expression:heart, kidney (rat)	PMID:18808386|REF_RGD_ID:11062011
12079702	IL6	interleukin 6	gene	DOID:11758	iron deficiency anemia	treatment	ISO	RGD:2901	D	RGD:9068941	20250327	RGD			PMID:31524964|REF_RGD_ID:598092517
12079702	IL6	interleukin 6	gene	DOID:11832	visual epilepsy		ISO	RGD:1352582	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:12836160
12079702	IL6	interleukin 6	gene	DOID:1205	allergic disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12079702	IL6	interleukin 6	gene	DOID:12157	aseptic meningitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10888991
12079702	IL6	interleukin 6	gene	DOID:12236	primary biliary cholangitis	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20240801	RGD		protein:increased expression:blood serum (human)	PMID:21275501|REF_RGD_ID:407420272
12079702	IL6	interleukin 6	gene	DOID:12241	beta thalassemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23905873|REF_RGD_ID:11041617
12079702	IL6	interleukin 6	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:35733194|REF_RGD_ID:598130075
12079702	IL6	interleukin 6	gene	DOID:12361	Graves' disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
12079702	IL6	interleukin 6	gene	DOID:12361	Graves' disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572C>G(human)	PMID:21235536|REF_RGD_ID:7829719
12079702	IL6	interleukin 6	gene	DOID:12361	Graves' disease	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:12818091|REF_RGD_ID:7829750
12079702	IL6	interleukin 6	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21350317
12079702	IL6	interleukin 6	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15384034
12079702	IL6	interleukin 6	gene	DOID:12678	hypercalcemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10638776
12079702	IL6	interleukin 6	gene	DOID:12704	ataxia telangiectasia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26851119|REF_RGD_ID:11529801
12079702	IL6	interleukin 6	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Otitis media;protein:increased expression:serum:	PMID:19352211|REF_RGD_ID:8142352
12079702	IL6	interleukin 6	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus	PMID:20622030|REF_RGD_ID:4143259
12079702	IL6	interleukin 6	gene	DOID:12835	quadriplegia	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with males:DNA:SNPs, haplotype: : rs1800796, rs2069837(human)	PMID:23415255|REF_RGD_ID:12792240
12079702	IL6	interleukin 6	gene	DOID:12849	autistic disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8964908
12079702	IL6	interleukin 6	gene	DOID:12849	autistic disorder	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26418275|REF_RGD_ID:12792236
12079702	IL6	interleukin 6	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:11860469|REF_RGD_ID:10402809
12079702	IL6	interleukin 6	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12836160
12079702	IL6	interleukin 6	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:11426023|REF_RGD_ID:7829718
12079702	IL6	interleukin 6	gene	DOID:12894	Sjogren's syndrome	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphims:promoter:-174G>C(human)	PMID:11426023|REF_RGD_ID:7829718
12079702	IL6	interleukin 6	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;mRNA,protein:increased expression:conjunctiva:	PMID:10487957|REF_RGD_ID:7829756
12079702	IL6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:1544781|REF_RGD_ID:7829806
12079702	IL6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;protein:increased expression:serum:	PMID:15209464|REF_RGD_ID:7387294
12079702	IL6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor:	PMID:10420202|REF_RGD_ID:7829723
12079702	IL6	interleukin 6	gene	DOID:13141	uveitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:eye	PMID:1544781|REF_RGD_ID:7829806
12079702	IL6	interleukin 6	gene	DOID:13197	nodular goiter		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
12079702	IL6	interleukin 6	gene	DOID:13241	Behcet's disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased secretion:monocyte:	PMID:8164212|REF_RGD_ID:7829752
12079702	IL6	interleukin 6	gene	DOID:13580	cholestasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449
12079702	IL6	interleukin 6	gene	DOID:13593	eclampsia	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27106269|REF_RGD_ID:11062145
12079702	IL6	interleukin 6	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12079702	IL6	interleukin 6	gene	DOID:1389	polyneuropathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19131463|REF_RGD_ID:2307274
12079702	IL6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12079702	IL6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20250123	RGD			PMID:21236309|REF_RGD_ID:597538491
12079702	IL6	interleukin 6	gene	DOID:14018	alcoholic liver cirrhosis	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:28320086|REF_RGD_ID:598130086
12079702	IL6	interleukin 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21318773
12079702	IL6	interleukin 6	gene	DOID:1470	major depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP, haplotype:promoter:-174G>C (human)	PMID:30734130|REF_RGD_ID:14975122
12079702	IL6	interleukin 6	gene	DOID:1474	aggressive periodontitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28662328|REF_RGD_ID:14975139
12079702	IL6	interleukin 6	gene	DOID:1485	cystic fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:16403491|REF_RGD_ID:5128672
12079702	IL6	interleukin 6	gene	DOID:1485	cystic fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20438838|REF_RGD_ID:4143275
12079702	IL6	interleukin 6	gene	DOID:1532	pleural disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21357438
12079702	IL6	interleukin 6	gene	DOID:1574	alcohol use disorder		ISO	RGD:1352582	D	RGD:9068941	20250123	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:26208141|REF_RGD_ID:11342768
12079702	IL6	interleukin 6	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:28320086|PMID:29685140|PMID:30926569|PMID:31524964|PMID:31840601|REF_RGD_ID:598092517|REF_RGD_ID:598092587|REF_RGD_ID:598092600|REF_RGD_ID:598130077|REF_RGD_ID:598130086
12079702	IL6	interleukin 6	gene	DOID:1580	diffuse scleroderma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20338043|REF_RGD_ID:12792275
12079702	IL6	interleukin 6	gene	DOID:1588	thrombocytopenia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Malaria, Vivax	PMID:25128199|REF_RGD_ID:11041893
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:10802	D	RGD:9068941	20210507	RGD		protein:increased expression:serum, hippocampus (mouse)	PMID:31396300|REF_RGD_ID:126908003
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18458677
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20200924	RGD		associated with Chronic Hepatitis C; DNA:insertion/deletion:promoter:	PMID:23571152|REF_RGD_ID:38676480
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:1352582	D	RGD:9068941	20210528	RGD		associated with gastric adenocarcinoma; protein:increased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:23589140|REF_RGD_ID:10402829
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:27106565|REF_RGD_ID:11062144
12079702	IL6	interleukin 6	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;DNA:SNP:promoter:-174G>C (human)	PMID:28083615|REF_RGD_ID:14975286
12079702	IL6	interleukin 6	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism::rs2069832(human)	PMID:17594514|REF_RGD_ID:7829720
12079702	IL6	interleukin 6	gene	DOID:1687	neovascular glaucoma	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal Vein Occlusion;protein:increased expression:aqueous humor:	PMID:10509659|REF_RGD_ID:7829814
12079702	IL6	interleukin 6	gene	DOID:1727	retinal vein occlusion		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21487926|REF_RGD_ID:5490120
12079702	IL6	interleukin 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26372664
12079702	IL6	interleukin 6	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352582	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12079702	IL6	interleukin 6	gene	DOID:1793	pancreatic cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30610790|REF_RGD_ID:14975253
12079702	IL6	interleukin 6	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30304975|REF_RGD_ID:14975257
12079702	IL6	interleukin 6	gene	DOID:1826	epilepsy		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,plasma	PMID:28303499|REF_RGD_ID:13524859
12079702	IL6	interleukin 6	gene	DOID:1875	impotence	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21492407|REF_RGD_ID:10402827
12079702	IL6	interleukin 6	gene	DOID:1875	impotence	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:24467772|REF_RGD_ID:9495931
12079702	IL6	interleukin 6	gene	DOID:1883	hepatitis C		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1474348, rs1800796, rs1800797 (human)	PMID:28340949|REF_RGD_ID:14975144
12079702	IL6	interleukin 6	gene	DOID:1883	hepatitis C	no_association	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:28340949|REF_RGD_ID:14975144
12079702	IL6	interleukin 6	gene	DOID:1924	hypogonadism		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:20221887|REF_RGD_ID:2317160
12079702	IL6	interleukin 6	gene	DOID:1936	atherosclerosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330073
12079702	IL6	interleukin 6	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
12079702	IL6	interleukin 6	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10802	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
12079702	IL6	interleukin 6	gene	DOID:1993	rectum cancer	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:28272402|REF_RGD_ID:14975288
12079702	IL6	interleukin 6	gene	DOID:2018	hyperinsulinism		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19375766|REF_RGD_ID:2307250
12079702	IL6	interleukin 6	gene	DOID:2043	hepatitis B		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174C>G (human)	PMID:27268603|REF_RGD_ID:14975295
12079702	IL6	interleukin 6	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
12079702	IL6	interleukin 6	gene	DOID:2316	brain ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914|PMID:17394460
12079702	IL6	interleukin 6	gene	DOID:2355	anemia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Colonic Neoplasms;protein:increased expression:serum (mouse)	PMID:19265263|REF_RGD_ID:11060277
12079702	IL6	interleukin 6	gene	DOID:2355	anemia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:24357729|REF_RGD_ID:11041614
12079702	IL6	interleukin 6	gene	DOID:2377	multiple sclerosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:24155968|REF_RGD_ID:12792202
12079702	IL6	interleukin 6	gene	DOID:2377	multiple sclerosis	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572 G>C(human)	PMID:23202972|REF_RGD_ID:12791288
12079702	IL6	interleukin 6	gene	DOID:2377	multiple sclerosis	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:26285213|REF_RGD_ID:11079567
12079702	IL6	interleukin 6	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22108589
12079702	IL6	interleukin 6	gene	DOID:26	pancreas disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		insulitis associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)	PMID:18772604|REF_RGD_ID:2307287
12079702	IL6	interleukin 6	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage (rat)	PMID:10988147|REF_RGD_ID:11062092
12079702	IL6	interleukin 6	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20393404|REF_RGD_ID:4143277
12079702	IL6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20840469|PMID:21115736|REF_RGD_ID:4143265|REF_RGD_ID:5128630
12079702	IL6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29902480
12079702	IL6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;protein:increased expression:sputum	PMID:20816188|REF_RGD_ID:4143266
12079702	IL6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:2901	D	RGD:9068941	20211126	RGD		protein:increased expression:lung	PMID:20658762|REF_RGD_ID:4143271
12079702	IL6	interleukin 6	gene	DOID:2841	asthma		ISO	RGD:2901	D	RGD:9068941	20260226	RGD		mRNA, protein:increased expression:lung	PMID:35202642|REF_RGD_ID:632527159
12079702	IL6	interleukin 6	gene	DOID:2862	glucosephosphate dehydrogenase deficiency		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:15718915|REF_RGD_ID:11049178
12079702	IL6	interleukin 6	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9403216
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15271897|REF_RGD_ID:32716401
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:2901	D	RGD:9068941	20200702	RGD		protein:increased expression:serum, Bronchoalveolar Lavage fluid (rat)	PMID:16409721|REF_RGD_ID:32726073
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200702	RGD		protein:increased expression:blood (human)	PMID:15472864|REF_RGD_ID:34888224
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352582	D	RGD:9068941	20200619	RGD		protein:increased expression:serum (human)	PMID:15657466|REF_RGD_ID:30309219
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:10802	D	RGD:9068941	20230302	RGD			PMID:32553273|REF_RGD_ID:32716426
12079702	IL6	interleukin 6	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1352582	D	RGD:9068941	20230302	RGD			PMID:15865221|REF_RGD_ID:33769580
12079702	IL6	interleukin 6	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20624776|REF_RGD_ID:4143257
12079702	IL6	interleukin 6	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20518740|REF_RGD_ID:5686880
12079702	IL6	interleukin 6	gene	DOID:3021	acute kidney failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21570986
12079702	IL6	interleukin 6	gene	DOID:3021	acute kidney failure		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Acute Lung Injury;protein:increased expression:plasma	PMID:18074478|REF_RGD_ID:5128661
12079702	IL6	interleukin 6	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214|PMID:29329563|PMID:31349846
12079702	IL6	interleukin 6	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20819268|REF_RGD_ID:4143243
12079702	IL6	interleukin 6	gene	DOID:3087	gingivitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)	PMID:19186972|REF_RGD_ID:2307265
12079702	IL6	interleukin 6	gene	DOID:319	spinal cord disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:30327453|REF_RGD_ID:14975119
12079702	IL6	interleukin 6	gene	DOID:3229	gastric dilatation		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:30249047|REF_RGD_ID:14975138
12079702	IL6	interleukin 6	gene	DOID:326	ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18091701
12079702	IL6	interleukin 6	gene	DOID:331	central nervous system disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Behcet Snydorme;protein:increased activity:cerebral spinal fluid:	PMID:9000037|REF_RGD_ID:7829731
12079702	IL6	interleukin 6	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12079702	IL6	interleukin 6	gene	DOID:3388	periodontal disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:19017034|REF_RGD_ID:2307284
12079702	IL6	interleukin 6	gene	DOID:3388	periodontal disease	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:17286759|REF_RGD_ID:1601585
12079702	IL6	interleukin 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19368923|REF_RGD_ID:2307251
12079702	IL6	interleukin 6	gene	DOID:341	peripheral vascular disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X; protein:increased expression:extracellular space (human)	PMID:19397692|REF_RGD_ID:2307191
12079702	IL6	interleukin 6	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626|PMID:21940958|PMID:25257527
12079702	IL6	interleukin 6	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29498696|REF_RGD_ID:13792833
12079702	IL6	interleukin 6	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:10802	D	RGD:9068941	20220930	RGD			PMID:29111308|REF_RGD_ID:155260331
12079702	IL6	interleukin 6	gene	DOID:37	skin disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
12079702	IL6	interleukin 6	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20210507	RGD		protein:increased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
12079702	IL6	interleukin 6	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20846163|REF_RGD_ID:4143241
12079702	IL6	interleukin 6	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17266442|PMID:25216247
12079702	IL6	interleukin 6	gene	DOID:3825	Shwartzman phenomenon	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:1381315|REF_RGD_ID:11060272
12079702	IL6	interleukin 6	gene	DOID:417	autoimmune disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19077085
12079702	IL6	interleukin 6	gene	DOID:418	systemic scleroderma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23406616|REF_RGD_ID:12792238
12079702	IL6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12079702	IL6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18608123|REF_RGD_ID:2307291
12079702	IL6	interleukin 6	gene	DOID:4195	hyperglycemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		fasting glucose associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human)	PMID:18752089|REF_RGD_ID:2307290
12079702	IL6	interleukin 6	gene	DOID:4251	conjunctival disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		conjunctivochalasis;protein:increased expression:tear:	PMID:19158563|REF_RGD_ID:7829815
12079702	IL6	interleukin 6	gene	DOID:4449	macular retinal edema		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal vein occlusion;protein:increased expression:vitreous:	PMID:22066978|REF_RGD_ID:7829760
12079702	IL6	interleukin 6	gene	DOID:4449	macular retinal edema		ISO	RGD:1352582	D	RGD:9068941	20221014	RGD		associated with central retinal vein occlusion;protein:increased expression:aqueous humor of eyeball (human)	PMID:35799735|REF_RGD_ID:155582223
12079702	IL6	interleukin 6	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7834629
12079702	IL6	interleukin 6	gene	DOID:4677	keratitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:promoter:-174 G>C,&#8722;572 C/G(human)	PMID:22503230|REF_RGD_ID:7829772
12079702	IL6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17621267
12079702	IL6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	RGD			PMID:15011822|REF_RGD_ID:2317167
12079702	IL6	interleukin 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352582	D	RGD:9068941	20250724	RGD		protein:increased expression:serum	PMID:28925763|REF_RGD_ID:14975292
12079702	IL6	interleukin 6	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352582	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:12830005|PMID:38685136
12079702	IL6	interleukin 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:1768380|REF_RGD_ID:10449449
12079702	IL6	interleukin 6	gene	DOID:5327	retinal detachment		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Retinal vein occlusion;protein:increased expression:aqueous humor,vitreous fluid:	PMID:21978265|REF_RGD_ID:7829821
12079702	IL6	interleukin 6	gene	DOID:5327	retinal detachment		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:1800167|REF_RGD_ID:7829748
12079702	IL6	interleukin 6	gene	DOID:5419	schizophrenia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8067274
12079702	IL6	interleukin 6	gene	DOID:5425	ovarian hyperstimulation syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, ascites (human)	PMID:9322101|REF_RGD_ID:11062135
12079702	IL6	interleukin 6	gene	DOID:5463	cochlear disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29304389|REF_RGD_ID:13792837
12079702	IL6	interleukin 6	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:2905|RGD:2906	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
12079702	IL6	interleukin 6	gene	DOID:552	pneumonia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12079702	IL6	interleukin 6	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:20595152|REF_RGD_ID:4140400
12079702	IL6	interleukin 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18270703
12079702	IL6	interleukin 6	gene	DOID:576	proteinuria		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:extracellular space (human)	PMID:19377212|REF_RGD_ID:2307194
12079702	IL6	interleukin 6	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28984080
12079702	IL6	interleukin 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883752|PMID:16310260
12079702	IL6	interleukin 6	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2901	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
12079702	IL6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15135663|PMID:16360360
12079702	IL6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:28939262|REF_RGD_ID:14975271
12079702	IL6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)	PMID:18999900|REF_RGD_ID:2307285
12079702	IL6	interleukin 6	gene	DOID:6000	congestive heart failure		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:increased expression:heart	PMID:18280594|REF_RGD_ID:5128682
12079702	IL6	interleukin 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20693255|REF_RGD_ID:4143246
12079702	IL6	interleukin 6	gene	DOID:6432	pulmonary hypertension	ameliorates	ISO	RGD:2901	D	RGD:9068941	20240912	RGD			PMID:38602915|REF_RGD_ID:407450417
12079702	IL6	interleukin 6	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:20713898|REF_RGD_ID:4142530
12079702	IL6	interleukin 6	gene	DOID:670	amphetamine abuse		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:ventral tegmental area	PMID:31282647|REF_RGD_ID:598092520
12079702	IL6	interleukin 6	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079702	IL6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		mRNA,protein:increased expression:liver, blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
12079702	IL6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2069852 (human)	PMID:27368337|REF_RGD_ID:14975289
12079702	IL6	interleukin 6	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2901	D	RGD:9068941	20241205	RGD			PMID:29486150|REF_RGD_ID:127285672
12079702	IL6	interleukin 6	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
12079702	IL6	interleukin 6	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:26339141|REF_RGD_ID:12792209
12079702	IL6	interleukin 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274|PMID:22450443
12079702	IL6	interleukin 6	gene	DOID:7188	autoimmune thyroiditis	severity	ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:extracellular space (mouse)	PMID:19301205|REF_RGD_ID:2307256
12079702	IL6	interleukin 6	gene	DOID:783	end stage renal disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
12079702	IL6	interleukin 6	gene	DOID:801	hemarthrosis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Hemophilia A	PMID:23413986|REF_RGD_ID:11060150
12079702	IL6	interleukin 6	gene	DOID:820	myocarditis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25396421
12079702	IL6	interleukin 6	gene	DOID:824	periodontitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		chronic periodontitis	PMID:17209781|REF_RGD_ID:1601588
12079702	IL6	interleukin 6	gene	DOID:824	periodontitis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:27795360|REF_RGD_ID:14975132
12079702	IL6	interleukin 6	gene	DOID:8283	peritonitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:26601826|REF_RGD_ID:14975296
12079702	IL6	interleukin 6	gene	DOID:8463	corneal ulcer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Arthritis,Rheumatoid;mRNA:increased expression:keratocyte:	PMID:12714388|REF_RGD_ID:7829721
12079702	IL6	interleukin 6	gene	DOID:8483	retinal artery occlusion		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:19421412|REF_RGD_ID:7829809
12079702	IL6	interleukin 6	gene	DOID:8483	retinal artery occlusion	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism>promoter:-174G>C(human)	PMID:15604420|REF_RGD_ID:7829798
12079702	IL6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Endotoxemia;protein:increased expression:lung	PMID:20639460|REF_RGD_ID:4143256
12079702	IL6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Sepsis	PMID:20845074|REF_RGD_ID:4143242
12079702	IL6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		Ventilator-Induced Lung Injury;protein:increased expression:lung	PMID:20683250|REF_RGD_ID:4143249
12079702	IL6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15547537|REF_RGD_ID:5128667
12079702	IL6	interleukin 6	gene	DOID:850	lung disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		Acute Lung Injury associated with Pancreatitis	PMID:20709317|REF_RGD_ID:5134961
12079702	IL6	interleukin 6	gene	DOID:850	lung disease	severity	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		Acute Lung Injury;mRNA:increased expression:lung	PMID:20818231|REF_RGD_ID:4143244
12079702	IL6	interleukin 6	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19573080|REF_RGD_ID:11049165
12079702	IL6	interleukin 6	gene	DOID:8567	Hodgkin's lymphoma	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:21466366|REF_RGD_ID:11049168
12079702	IL6	interleukin 6	gene	DOID:8574	lichen disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18393961
12079702	IL6	interleukin 6	gene	DOID:8632	Kaposi's sarcoma		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:8677	perinatal necrotizing enterocolitis	treatment	ISO	RGD:2901	D	RGD:9068941	20211126	RGD			PMID:20501441|REF_RGD_ID:2324672
12079702	IL6	interleukin 6	gene	DOID:8680	alcoholic gastritis	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD			PMID:24972622|REF_RGD_ID:10401897
12079702	IL6	interleukin 6	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:10802	D	RGD:9068941	20200820	RGD			PMID:25398094|REF_RGD_ID:38501102
12079702	IL6	interleukin 6	gene	DOID:8778	Crohn's disease		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:8869	neuromyelitis optica	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebral spinal fluid:	PMID:20128675|REF_RGD_ID:7829722
12079702	IL6	interleukin 6	gene	DOID:8893	psoriasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844318
12079702	IL6	interleukin 6	gene	DOID:8927	learning disability	disease_progression	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:9037082|REF_RGD_ID:7829733
12079702	IL6	interleukin 6	gene	DOID:893	Wilson disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
12079702	IL6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18988929|REF_RGD_ID:2307272
12079702	IL6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Typpe 1;protein:increased expression:serum:	PMID:17725274|REF_RGD_ID:7829749
12079702	IL6	interleukin 6	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; DNA:polymorphism:promoter:-174G>C (human)	PMID:19140096|REF_RGD_ID:2307267
12079702	IL6	interleukin 6	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)	PMID:19542902|REF_RGD_ID:7829816
12079702	IL6	interleukin 6	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27085942|PMID:29691718|REF_RGD_ID:11062150|REF_RGD_ID:14975124
12079702	IL6	interleukin 6	gene	DOID:9000053	Headache		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7537110
12079702	IL6	interleukin 6	gene	DOID:9000099	Experimental Colitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16630696|REF_RGD_ID:8662978
12079702	IL6	interleukin 6	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:27096537|REF_RGD_ID:11062146
12079702	IL6	interleukin 6	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16133010|REF_RGD_ID:11062139
12079702	IL6	interleukin 6	gene	DOID:9000109	Haemophilus Infections		ISO	RGD:10802	D	RGD:9068941	20260226	RGD		protein:increased expression:lung	PMID:33778054|REF_RGD_ID:632527160
12079702	IL6	interleukin 6	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:25443778|REF_RGD_ID:9831197
12079702	IL6	interleukin 6	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:11581077|PMID:8943431|REF_RGD_ID:11060264|REF_RGD_ID:11062107
12079702	IL6	interleukin 6	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
12079702	IL6	interleukin 6	gene	DOID:9000197	Edema		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
12079702	IL6	interleukin 6	gene	DOID:9000197	Edema		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		diabetic macular edema associated with Diabetes Mellitus; protein:increased expression:extracellular space (human)	PMID:19118698|REF_RGD_ID:2306981
12079702	IL6	interleukin 6	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593346
12079702	IL6	interleukin 6	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25396421
12079702	IL6	interleukin 6	gene	DOID:9000222	neutrophilic asthma		ISO	RGD:1352582	D	RGD:9068941	20260226	RGD		protein:increased expression:sputum, blood serum	PMID:34825300|REF_RGD_ID:632518367
12079702	IL6	interleukin 6	gene	DOID:9000310	Lung Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19762220
12079702	IL6	interleukin 6	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27157545
12079702	IL6	interleukin 6	gene	DOID:9000469	Viral Myocarditis	severity	ISO	RGD:10802	D	RGD:9068941	20231026	RGD		mRNA:increased expression:heart (mouse)	PMID:25998987|REF_RGD_ID:401850594
12079702	IL6	interleukin 6	gene	DOID:9000471	Vibrio Vulnificus Infection	treatment	ISO	RGD:2901	D	RGD:9068941	20250123	RGD		associated with Alcoholic Liver Diseases	PMID:19781370|REF_RGD_ID:597538490
12079702	IL6	interleukin 6	gene	DOID:9000540	HIV Wasting Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7979221
12079702	IL6	interleukin 6	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:2901	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12079702	IL6	interleukin 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937440|PMID:26101800
12079702	IL6	interleukin 6	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1352582	D	RGD:9068941	20210611	RGD		associated with stomach cancer, human cells in mouse model	PMID:28186964|REF_RGD_ID:127229952
12079702	IL6	interleukin 6	gene	DOID:9000972	Fever		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11852909|PMID:15384034|PMID:7537110
12079702	IL6	interleukin 6	gene	DOID:9000972	Fever		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:22042912|REF_RGD_ID:7241096
12079702	IL6	interleukin 6	gene	DOID:9000998	Brain Injuries		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19800810|PMID:21549006|PMID:23159883
12079702	IL6	interleukin 6	gene	DOID:9000998	Brain Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (rat)	PMID:10027774|REF_RGD_ID:11049549
12079702	IL6	interleukin 6	gene	DOID:9001103	Heat Stress Disorders		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:23993269|REF_RGD_ID:11060279
12079702	IL6	interleukin 6	gene	DOID:9001131	stress-related disorder		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		associated with binge drinking; mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
12079702	IL6	interleukin 6	gene	DOID:9001191	Cadmium Poisoning		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		in males;protein:increased expression, increased activity:plasma (rat)	PMID:19462680|REF_RGD_ID:11060270
12079702	IL6	interleukin 6	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:visceral adipose	PMID:29089335|REF_RGD_ID:21410183
12079702	IL6	interleukin 6	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21492407|REF_RGD_ID:10402827
12079702	IL6	interleukin 6	gene	DOID:9001488	Human Influenza		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20731583|REF_RGD_ID:4143268
12079702	IL6	interleukin 6	gene	DOID:9001542	Albuminuria		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17167242
12079702	IL6	interleukin 6	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid, serum	PMID:30327453|REF_RGD_ID:14975119
12079702	IL6	interleukin 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10802	D	RGD:9068941	20201023	RGD		mRNA:increased expression:liver (mouse)	PMID:28465467|REF_RGD_ID:39939037
12079702	IL6	interleukin 6	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2901	D	RGD:9068941	20220331	RGD			PMID:24383550|PMID:30346985|REF_RGD_ID:10450610|REF_RGD_ID:151665755
12079702	IL6	interleukin 6	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Premature Birth;protein:increased expression:serum:	PMID:22906886|REF_RGD_ID:12792208
12079702	IL6	interleukin 6	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12079702	IL6	interleukin 6	gene	DOID:9001586	Experimental Liver Neoplasms	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
12079702	IL6	interleukin 6	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
12079702	IL6	interleukin 6	gene	DOID:9001665	Aneurysm		ISO	RGD:1352582	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:34796763
12079702	IL6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23305094
12079702	IL6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1352582	D	RGD:9068941	20220922	RGD		protein:increased expression:blood serum (human)	PMID:32178736|REF_RGD_ID:155230830
12079702	IL6	interleukin 6	gene	DOID:9001686	Acute Coronary Syndrome	treatment	ISO	RGD:2901	D	RGD:9068941	20220922	RGD			PMID:32178736|REF_RGD_ID:155230830
12079702	IL6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21192278
12079702	IL6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21168948|REF_RGD_ID:5128673
12079702	IL6	interleukin 6	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with Alcoholic Intoxication; protein:increased expression:serum	PMID:24163503|REF_RGD_ID:598148159
12079702	IL6	interleukin 6	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina:	PMID:16530172|REF_RGD_ID:7829807
12079702	IL6	interleukin 6	gene	DOID:9002096	Foot Injuries		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18988309|REF_RGD_ID:8662979
12079702	IL6	interleukin 6	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:20643849|REF_RGD_ID:4143255
12079702	IL6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230629	RGD			PMID:34144219|PMID:34400126|REF_RGD_ID:329812011|REF_RGD_ID:329902072
12079702	IL6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:10802	D	RGD:9068941	20220930	RGD			PMID:32155285|REF_RGD_ID:155260323
12079702	IL6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:24752458|REF_RGD_ID:11062134
12079702	IL6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
12079702	IL6	interleukin 6	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250424	RGD		associated with steatotic liver disease	PMID:31483550|REF_RGD_ID:598147058
12079702	IL6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:18716362|REF_RGD_ID:2307282
12079702	IL6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney (rat)	PMID:19052104|REF_RGD_ID:2307281
12079702	IL6	interleukin 6	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type1;DNA:polymorphism:promoter:-174G>C(human)	PMID:19542902|REF_RGD_ID:7829816
12079702	IL6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:18652822|PMID:7582491
12079702	IL6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Foot Injuries; protein:increased expression:serum:	PMID:18988309|REF_RGD_ID:8662979
12079702	IL6	interleukin 6	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:23953943|REF_RGD_ID:10402830
12079702	IL6	interleukin 6	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
12079702	IL6	interleukin 6	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:10870116|REF_RGD_ID:11522755
12079702	IL6	interleukin 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15672864|PMID:17196171|PMID:19011039|PMID:19240160|PMID:25970160
12079702	IL6	interleukin 6	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:26339812|REF_RGD_ID:11062109
12079702	IL6	interleukin 6	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20131233|PMID:20974942|PMID:22450443
12079702	IL6	interleukin 6	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:10381487|REF_RGD_ID:11049553
12079702	IL6	interleukin 6	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:23503893|PMID:24028507|PMID:8607900|REF_RGD_ID:10755447|REF_RGD_ID:11049551|REF_RGD_ID:11060267
12079702	IL6	interleukin 6	gene	DOID:9002633	Premature Obstetric Labor		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20610570|PMID:22122352
12079702	IL6	interleukin 6	gene	DOID:9002676	Cerebral Hemorrhage	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230504	RGD			PMID:31376096|REF_RGD_ID:329337378
12079702	IL6	interleukin 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401270
12079702	IL6	interleukin 6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:23322593|REF_RGD_ID:12791289
12079702	IL6	interleukin 6	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:oligodendrocytes (rat)	PMID:9358769|REF_RGD_ID:2307412
12079702	IL6	interleukin 6	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:16429448|REF_RGD_ID:7829818
12079702	IL6	interleukin 6	gene	DOID:9002936	Bile Duct Neoplasms	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17617204|REF_RGD_ID:2317166
12079702	IL6	interleukin 6	gene	DOID:9003104	Intracranial Hemorrhages	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter -174G>C(human)	PMID:15331795|REF_RGD_ID:12792203
12079702	IL6	interleukin 6	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12079702	IL6	interleukin 6	gene	DOID:9003369	Strongylida Infections		ISO	RGD:1352582	D	RGD:9068941	20260226	RGD		associated with Latent Tuberculosis, protein:decreased expression:blood plasma	PMID:26542223|REF_RGD_ID:632518403
12079702	IL6	interleukin 6	gene	DOID:9003507	Premature Birth		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055944
12079702	IL6	interleukin 6	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :174G>C(human)	PMID:22117975|REF_RGD_ID:12792241
12079702	IL6	interleukin 6	gene	DOID:9003688	Toxoplasma Chorioretinitis	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:23336844|REF_RGD_ID:7829805
12079702	IL6	interleukin 6	gene	DOID:9003730	Chemical Burns		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22533443
12079702	IL6	interleukin 6	gene	DOID:9003737	Ascorbic Acid Deficiency		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:9566989|REF_RGD_ID:1643102
12079702	IL6	interleukin 6	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:11189185|REF_RGD_ID:7394753
12079702	IL6	interleukin 6	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.C572G(human)	PMID:22385075|REF_RGD_ID:8547982
12079702	IL6	interleukin 6	gene	DOID:9003828	Klebsiella Infections	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:8432613|REF_RGD_ID:11062093
12079702	IL6	interleukin 6	gene	DOID:9003871	Venous Thrombosis	treatment	ISO	RGD:2901	D	RGD:9068941	20260530	RGD			PMID:23833374|REF_RGD_ID:730454716
12079702	IL6	interleukin 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart	PMID:15542404|REF_RGD_ID:1581939
12079702	IL6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20659747|REF_RGD_ID:4143253
12079702	IL6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914|PMID:17032661|PMID:18258783|PMID:19673871|PMID:21940958
12079702	IL6	interleukin 6	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20680426|REF_RGD_ID:4143250
12079702	IL6	interleukin 6	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs1800795 (human)	PMID:27812403|REF_RGD_ID:14975294
12079702	IL6	interleukin 6	gene	DOID:9004210	Tympanic Membrane Perforation		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tympanic membrane:	PMID:24012216|REF_RGD_ID:8547981
12079702	IL6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:1352582	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:32062619
12079702	IL6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27598601|REF_RGD_ID:14975121
12079702	IL6	interleukin 6	gene	DOID:9004484	Sepsis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; mRNA, protein:increased expression:liver, extracellular space (rat)	PMID:19079684|REF_RGD_ID:2307280
12079702	IL6	interleukin 6	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:25317848|REF_RGD_ID:11062009
12079702	IL6	interleukin 6	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12079702	IL6	interleukin 6	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26101800|PMID:26284488
12079702	IL6	interleukin 6	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27085796|REF_RGD_ID:11062151
12079702	IL6	interleukin 6	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1352582	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:32062619
12079702	IL6	interleukin 6	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage, blood, lung (rat)	PMID:19995278|REF_RGD_ID:11062103
12079702	IL6	interleukin 6	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
12079702	IL6	interleukin 6	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260409	RGD		associated with burns	PMID:22360954|REF_RGD_ID:645122548
12079702	IL6	interleukin 6	gene	DOID:9004649	Heat Stroke		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12079702	IL6	interleukin 6	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:7678052|REF_RGD_ID:11060262
12079702	IL6	interleukin 6	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:26081032|REF_RGD_ID:598130074
12079702	IL6	interleukin 6	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284884
12079702	IL6	interleukin 6	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9032749
12079702	IL6	interleukin 6	gene	DOID:9004932	Eales Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22025890|REF_RGD_ID:7829790
12079702	IL6	interleukin 6	gene	DOID:9004932	Eales Disease	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C(human)	PMID:22025890|REF_RGD_ID:7829790
12079702	IL6	interleukin 6	gene	DOID:9004965	opiate withdrawal syndrome	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
12079702	IL6	interleukin 6	gene	DOID:9004983	Fetal Inflammatory Response Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Premature Birth;	PMID:24832219|REF_RGD_ID:12801490
12079702	IL6	interleukin 6	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:10802	D	RGD:9068941	20200820	RGD		mRNA:increased expression:placenta:	PMID:21923716|REF_RGD_ID:38501105
12079702	IL6	interleukin 6	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20260718	RGD			PMID:38453769|REF_RGD_ID:736797808
12079702	IL6	interleukin 6	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26372664
12079702	IL6	interleukin 6	gene	DOID:9005372	Inflammation		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181422|PMID:16227999|PMID:19762220|PMID:19803787|PMID:20056584|PMID:20578705|PMID:20816778|PMID:21467745|PMID:23159501|PMID:23371441|PMID:26297436
12079702	IL6	interleukin 6	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:25319517|REF_RGD_ID:11060261
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:24582317|REF_RGD_ID:11049554
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138235
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:18976114|REF_RGD_ID:2306984
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (rat)	PMID:19328014|REF_RGD_ID:2307252
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:20555424|REF_RGD_ID:4142788
12079702	IL6	interleukin 6	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2901	D	RGD:9068941	20250410	RGD			PMID:28085064|REF_RGD_ID:598130069
12079702	IL6	interleukin 6	gene	DOID:9005749	Necrosis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7608651
12079702	IL6	interleukin 6	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1352582	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
12079702	IL6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:21396682|REF_RGD_ID:5147765
12079702	IL6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; Protein:increased expression:extracellular space (rat)	PMID:19449282|REF_RGD_ID:2307179
12079702	IL6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:22227956|REF_RGD_ID:6893482
12079702	IL6	interleukin 6	gene	DOID:9005930	Endotoxemia		ISO	RGD:2901	D	RGD:9068941	20250501	RGD		protein:increased expression:plasma, pituitary, adrenal, spleen	PMID:10235303|REF_RGD_ID:598148179
12079702	IL6	interleukin 6	gene	DOID:9006024	Hypotension		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15217654|PMID:15384034
12079702	IL6	interleukin 6	gene	DOID:9006102	Right Ventricular Hypertrophy	treatment	ISO	RGD:2901	D	RGD:9068941	20230803	RGD		associated with pulmonary arterial hypertension	PMID:26959484|REF_RGD_ID:329969898
12079702	IL6	interleukin 6	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	ameliorates	ISO	RGD:2901	D	RGD:9068941	20240912	RGD			PMID:38602915|REF_RGD_ID:407450417
12079702	IL6	interleukin 6	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
12079702	IL6	interleukin 6	gene	DOID:9006302	Binge Drinking		ISO	RGD:2901	D	RGD:9068941	20250322	RGD		protein:increased expression:hypothalamic microglia	PMID:30737481|REF_RGD_ID:598092506
12079702	IL6	interleukin 6	gene	DOID:9006302	Binge Drinking		ISO	RGD:2901	D	RGD:9068941	20250327	RGD		mRNA:increased expression:amygdala,hippocampus	PMID:29458194|REF_RGD_ID:598092572
12079702	IL6	interleukin 6	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:2901	D	RGD:9068941	20250403	RGD			PMID:29260441|REF_RGD_ID:598099561
12079702	IL6	interleukin 6	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2901	D	RGD:9068941	20240208	RGD		protein:increased expression:hippocampus (rat)	PMID:33390808|REF_RGD_ID:401965467
12079702	IL6	interleukin 6	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2901	D	RGD:9068941	20250313	RGD			PMID:28684969|PMID:30221701|REF_RGD_ID:597538492|REF_RGD_ID:597931096
12079702	IL6	interleukin 6	gene	DOID:9006607	Hemifacial Spasm		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:30684712|REF_RGD_ID:14975126
12079702	IL6	interleukin 6	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16644639
12079702	IL6	interleukin 6	gene	DOID:9006741	Acute Hepatitis	disease_progression	ISO	RGD:10802	D	RGD:9068941	20210423	RGD		protein:increased expression:blood serum (mouse)	PMID:26569409|REF_RGD_ID:11344640
12079702	IL6	interleukin 6	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1352582	D	RGD:9068941	20251106	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:33115854|REF_RGD_ID:629006538
12079702	IL6	interleukin 6	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352582	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
12079702	IL6	interleukin 6	gene	DOID:9006827	Lung Reperfusion Injury	ameliorates	ISO	RGD:10802	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
12079702	IL6	interleukin 6	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system fluid/secretion	PMID:14738241|REF_RGD_ID:5128668
12079702	IL6	interleukin 6	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:11349084|REF_RGD_ID:7829813
12079702	IL6	interleukin 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16286589
12079702	IL6	interleukin 6	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15044820
12079702	IL6	interleukin 6	gene	DOID:9007346	Cachexia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
12079702	IL6	interleukin 6	gene	DOID:9007346	Cachexia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Leukemia, T-Cell;protein:increased activity:plasma (rat)	PMID:9110147|REF_RGD_ID:11062106
12079702	IL6	interleukin 6	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372246
12079702	IL6	interleukin 6	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-572C>G(human)	PMID:21235536|REF_RGD_ID:7829719
12079702	IL6	interleukin 6	gene	DOID:9007367	Septic Peritonitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:19897171|REF_RGD_ID:11062137
12079702	IL6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15763341|PMID:7532385
12079702	IL6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:29091898|REF_RGD_ID:15090820
12079702	IL6	interleukin 6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250329	RGD			PMID:29091898|PMID:30926569|REF_RGD_ID:15090820|REF_RGD_ID:598092600
12079702	IL6	interleukin 6	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:10802	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
12079702	IL6	interleukin 6	gene	DOID:9007480	Hyperoxia		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:20663297|REF_RGD_ID:4143252
12079702	IL6	interleukin 6	gene	DOID:9007588	Heart Injuries	ameliorates	ISO	RGD:10802	D	RGD:9068941	20230330	RGD		associated with obesity	PMID:32084395|REF_RGD_ID:242905211
12079702	IL6	interleukin 6	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352582	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593346|PMID:26101800
12079702	IL6	interleukin 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:extracellular space (rat)	PMID:19328014|REF_RGD_ID:2307252
12079702	IL6	interleukin 6	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:islet of Langerhans	PMID:21826222|REF_RGD_ID:10402828
12079702	IL6	interleukin 6	gene	DOID:9007730	Burns		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10431976|PMID:18277951
12079702	IL6	interleukin 6	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20230824	RGD			PMID:11959089|PMID:22079846|REF_RGD_ID:11062110|REF_RGD_ID:401794136
12079702	IL6	interleukin 6	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20220929	RGD			PMID:27087891|PMID:31583047|REF_RGD_ID:11062149|REF_RGD_ID:155230831
12079702	IL6	interleukin 6	gene	DOID:9007925	Sudden Cardiac Death	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23906927|REF_RGD_ID:12792237
12079702	IL6	interleukin 6	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:10802	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
12079702	IL6	interleukin 6	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1352582	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108500
12079702	IL6	interleukin 6	gene	DOID:9008414	Pulmonary Contusion		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage fluid (rat)	PMID:16044083|REF_RGD_ID:11060268
12079702	IL6	interleukin 6	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:2901	D	RGD:9068941	20250327	RGD			PMID:31666482|REF_RGD_ID:598092578
12079702	IL6	interleukin 6	gene	DOID:9008523	Subretinal Fibrosis		ISO	RGD:10802	D	RGD:9068941	20200609	RGD			PMID:24790857|REF_RGD_ID:10402815
12079702	IL6	interleukin 6	gene	DOID:9008604	Radiation Pneumonitis	treatment	ISO	RGD:2901	D	RGD:9068941	20250306	RGD			PMID:34036875|REF_RGD_ID:597830143
12079702	IL6	interleukin 6	gene	DOID:9008614	Cardiovascular Pregnancy Complications		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716473
12079702	IL6	interleukin 6	gene	DOID:9008652	Postoperative Atrial Fibrillation	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:18946567|REF_RGD_ID:9495910
12079702	IL6	interleukin 6	gene	DOID:9008691	Liver Injury		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:16549690|REF_RGD_ID:11060263
12079702	IL6	interleukin 6	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:27109160|REF_RGD_ID:11062142
12079702	IL6	interleukin 6	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2901	D	RGD:9068941	20250403	RGD			PMID:28358702|REF_RGD_ID:598099567
12079702	IL6	interleukin 6	gene	DOID:9008763	Femoral Fractures		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21442011|REF_RGD_ID:5131471
12079702	IL6	interleukin 6	gene	DOID:9008824	Sarcopenia		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:12919235|REF_RGD_ID:10045859
12079702	IL6	interleukin 6	gene	DOID:9008865	Entamoebiasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16374615
12079702	IL6	interleukin 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037|PMID:17516992|PMID:19435922|PMID:19446661
12079702	IL6	interleukin 6	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with obesity;DNA:polymorphism:promoter:-174G>C(human)	PMID:11426023|REF_RGD_ID:7829718
12079702	IL6	interleukin 6	gene	DOID:9008967	Brain Concussion	treatment	ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:27113205|REF_RGD_ID:11062140
12079702	IL6	interleukin 6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18500730
12079702	IL6	interleukin 6	gene	DOID:9065	leishmaniasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16540374
12079702	IL6	interleukin 6	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18158872
12079702	IL6	interleukin 6	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD			PMID:23357299|REF_RGD_ID:11046264
12079702	IL6	interleukin 6	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:8892684|REF_RGD_ID:11062010
12079702	IL6	interleukin 6	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17404324|PMID:22461696|PMID:7554475
12079702	IL6	interleukin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-174G>C (human)	PMID:28349833|REF_RGD_ID:14975287
12079702	IL6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dendritic cell (mouse)	PMID:19120268|REF_RGD_ID:2307278
12079702	IL6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Dementia; protein:increased expression:brain (human)	PMID:19139294|REF_RGD_ID:2307273
12079702	IL6	interleukin 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:extracellular space (human)	PMID:19442860|REF_RGD_ID:2307180
12079702	IL6	interleukin 6	gene	DOID:9351	diabetes mellitus	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-174G>C (human)	PMID:18689695|REF_RGD_ID:2307293
12079702	IL6	interleukin 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:9402	epididymitis		ISO	RGD:2901	D	RGD:9068941	20200609	RGD			PMID:29311626|REF_RGD_ID:13792835
12079702	IL6	interleukin 6	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:2901	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
12079702	IL6	interleukin 6	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1352582	D	RGD:9068941	20251004	RGD		DNA:SNP,haplotype: :rs2069832	PMID:25994869|REF_RGD_ID:628360924
12079702	IL6	interleukin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:10802	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased expression:extracellular space (mouse)	PMID:19205029|REF_RGD_ID:2307258
12079702	IL6	interleukin 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:liver, extracellular space (rat)	PMID:19076162|REF_RGD_ID:2307264
12079702	IL6	interleukin 6	gene	DOID:9538	multiple myeloma		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855565|PMID:19330649|PMID:8520508
12079702	IL6	interleukin 6	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous:	PMID:1800167|REF_RGD_ID:7829748
12079702	IL6	interleukin 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352582	D	RGD:7240710	20260729	OMIM			
12079702	IL6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20141834|PMID:24042701
12079702	IL6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		DNA:polymorphism>promoter:174G>C	PMID:16493118|REF_RGD_ID:1601582
12079702	IL6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:1352582	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:extracellular space (human)	PMID:19228869|REF_RGD_ID:2307257
12079702	IL6	interleukin 6	gene	DOID:9970	obesity		ISO	RGD:2901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:islet of Langerhans	PMID:21826222|REF_RGD_ID:10402828
12079702	IL6	interleukin 6	gene	DOID:9970	obesity	sexual_dimorphism	ISO	RGD:2901	D	RGD:9068941	20260404	RGD		protein:increased expression:lung	PMID:35202642|REF_RGD_ID:632527159
12079702	IL6	interleukin 6	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:2901	D	RGD:9068941	20250417	RGD			PMID:37112606|REF_RGD_ID:598130076
12079711	AREG	amphiregulin	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:8543395|REF_RGD_ID:2292664
12079711	AREG	amphiregulin	gene	DOID:0080600	COVID-19		ISO	RGD:1345760	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12079711	AREG	amphiregulin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079711	AREG	amphiregulin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:11507076|REF_RGD_ID:2292661
12079711	AREG	amphiregulin	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19267999
12079711	AREG	amphiregulin	gene	DOID:1612	breast cancer		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD			PMID:16438846|REF_RGD_ID:2292658
12079711	AREG	amphiregulin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11237771
12079711	AREG	amphiregulin	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:16469638|REF_RGD_ID:2289980
12079711	AREG	amphiregulin	gene	DOID:2841	asthma		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15696081
12079711	AREG	amphiregulin	gene	DOID:289	endometriosis		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12079711	AREG	amphiregulin	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD			PMID:11523048|REF_RGD_ID:2292660
12079711	AREG	amphiregulin	gene	DOID:3070	high grade glioma		ISO	RGD:2149	D	RGD:9068941	20200609	RGD			PMID:8621257|REF_RGD_ID:2292668
12079711	AREG	amphiregulin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26817844
12079711	AREG	amphiregulin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427|PMID:16230376
12079711	AREG	amphiregulin	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12079711	AREG	amphiregulin	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:14716741|REF_RGD_ID:2292659
12079711	AREG	amphiregulin	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15723263|PMID:15940630|PMID:16367923
12079711	AREG	amphiregulin	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:2149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
12079711	AREG	amphiregulin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:14716741|REF_RGD_ID:2292659
12079711	AREG	amphiregulin	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15313392
12079711	AREG	amphiregulin	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:1345760	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:endometrium	PMID:16962163|REF_RGD_ID:2289950
12079711	AREG	amphiregulin	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2149	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
12079711	AREG	amphiregulin	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736382	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:10225449|REF_RGD_ID:2292663
12079711	AREG	amphiregulin	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342401
12079711	AREG	amphiregulin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12079711	AREG	amphiregulin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11237771
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079726	ERI3	ERI1 exoribonuclease family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:0060058	lymphoma		ISO	RGD:1602112	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:1115	sarcoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:1324	lung cancer		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:1909	melanoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079754	NUB1	negative regulator of ubiquitin like proteins 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079772	PHF7	PHD finger protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079772	PHF7	PHD finger protein 7	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1318527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	
12079772	PHF7	PHD finger protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079772	PHF7	PHD finger protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079772	PHF7	PHD finger protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079772	PHF7	PHD finger protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079772	PHF7	PHD finger protein 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079787	INTS6	integrator complex subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319842	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12079787	INTS6	integrator complex subunit 6	gene	DOID:0081467	autosomal dominant intellectual developmental disorder 78		ISO	RGD:1319842	D	RGD:7240710	20260805	OMIM			
12079787	INTS6	integrator complex subunit 6	gene	DOID:0081467	autosomal dominant intellectual developmental disorder 78		ISO	RGD:1319842	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 78	
12079787	INTS6	integrator complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079787	INTS6	integrator complex subunit 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:4362	cervical cancer		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079787	INTS6	integrator complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079787	INTS6	integrator complex subunit 6	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
12079787	INTS6	integrator complex subunit 6	gene	DOID:9006637	Schizencephaly		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
12079787	INTS6	integrator complex subunit 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079787	INTS6	integrator complex subunit 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:0080600	COVID-19		ISO	RGD:1605851	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:12155	lymphocytic choriomeningitis	disease_progression	ISO	RGD:1615680	D	RGD:9068941	20210226	RGD			PMID:31451663|REF_RGD_ID:41412202
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:14069	cerebral malaria	ameliorates	ISO	RGD:1615680	D	RGD:9068941	20210226	RGD			PMID:31269448|REF_RGD_ID:41412201
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1605851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079811	CLEC12A	C-type lectin domain family 12 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12079821	HLCS	holocarboxylase synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079821	HLCS	holocarboxylase synthetase	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E	PMID:25741868
12079821	HLCS	holocarboxylase synthetase	gene	DOID:3070	high grade glioma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12079821	HLCS	holocarboxylase synthetase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12079821	HLCS	holocarboxylase synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320489	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10653324|PMID:11735028|PMID:17576681|PMID:25741868|PMID:27114915|PMID:28492532|PMID:33123633|PMID:9536098
12079821	HLCS	holocarboxylase synthetase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079821	HLCS	holocarboxylase synthetase	gene	DOID:630	genetic disease		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
12079821	HLCS	holocarboxylase synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079821	HLCS	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:7240710	20180130	OMIM			
12079821	HLCS	holocarboxylase synthetase	gene	DOID:859	holocarboxylase synthetase deficiency		ISO	RGD:1320489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOLOCARBOXYLASE SYNTHETASE DEFICIENCY | ClinVar Annotator: match by term: Holocarboxylase synthetase deficiency | ClinVar Annotator: match by term: MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET | ClinVar Annotator: match by term: holocarboxylase synthetase deficiency	PMID:10068510|PMID:10190325|PMID:10590022|PMID:10653324|PMID:11124959|PMID:11185745|PMID:11735028|PMID:12124727|PMID:12633764|PMID:16134170|PMID:16199547|PMID:16231399|PMID:17274881|PMID:17407983|PMID:17576681|PMID:18429047|PMID:18442489|PMID:18974016|PMID:19157941|PMID:19695181|PMID:19806568|PMID:20026029|PMID:20095979|PMID:21615476|PMID:21874615|PMID:21894551|PMID:22027809|PMID:24033266|PMID:24085707|PMID:24099927|PMID:24215330|PMID:24239178|PMID:25087612|PMID:25525159|PMID:25690727|PMID:25741868|PMID:26938784|PMID:27114915|PMID:2760430|PMID:27604308|PMID:28492532|PMID:29701239|PMID:32219826|PMID:32358368|PMID:32727382|PMID:32841162|PMID:33123633|PMID:33870574|PMID:36890565|PMID:38380423|PMID:38550975|PMID:38582244|PMID:39194177|PMID:39634276|PMID:7842009|PMID:8541348|PMID:8817339|PMID:9396568|PMID:9536098|PMID:9630604|PMID:9870216
12079821	HLCS	holocarboxylase synthetase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12079821	HLCS	holocarboxylase synthetase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1320489	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: hyperammonemia	PMID:25741868|PMID:28492532|PMID:38146699
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2291790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2291790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:1909	melanoma		ISO	RGD:2291790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2291790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:9009221	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM		ISO	RGD:2291790	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum	
12079853	LNP1	leukemia NUP98 fusion partner 1	gene	DOID:9256	colorectal cancer		ISO	RGD:2291790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12079867	DET1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079867	DET1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079867	DET1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079867	DET1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12079867	DET1	DET1 partner of COP1 E3 ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079893	LOC479649	chymostrypsinogen B1-like	gene	DOID:4989	pancreatitis		ISO	RGD:2444	D	RGD:9068941	20210521	RGD		mRNA, protein:decreased expression:pancreas	PMID:1716058|REF_RGD_ID:2303363
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:0110331	Leber congenital amaurosis 3		ISO	RGD:1345087	D	RGD:7240710	20180130	OMIM			
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:0110331	Leber congenital amaurosis 3		ISO	RGD:1345087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 3 | ClinVar Annotator: match by term: Leber congenital amaurosis 3 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 94, VARIABLE AGE AT ONSET | ClinVar Annotator: match by term: Retinitis Pigmentosa, Juvenile, SPATA7-Related | ClinVar Annotator: match by term: Retinitis pigmentosa 94, variable age at onset | ClinVar Annotator: match by term: SPATA7-related condition	PMID:16199547|PMID:17576681|PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26854980|PMID:28481129|PMID:28492532|PMID:28714225|PMID:29186038|PMID:29411205|PMID:30054919|PMID:31589614|PMID:31908400|PMID:31964843|PMID:32141364|PMID:32165824|PMID:32865313|PMID:33090715|PMID:33173045|PMID:33576794|PMID:33749171|PMID:36819107|PMID:9536098
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345087	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:25741868|PMID:26355662|PMID:28481129|PMID:28492532|PMID:9536098
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345087	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:25741868|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345087	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17576681|PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26306921|PMID:26355662|PMID:28481129|PMID:28492532|PMID:30054919|PMID:31908400|PMID:33576794|PMID:9536098
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:19268277|PMID:22334370|PMID:23847139|PMID:25741868|PMID:26047050|PMID:26261414|PMID:28481129|PMID:28492532|PMID:30054919
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:11162	respiratory failure		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:11830	myopia		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1345087	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:19268277|PMID:20104588|PMID:20301475|PMID:21310915|PMID:21602930|PMID:22334370|PMID:23847139|PMID:24265693|PMID:24938718|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:29411205|PMID:31908400|PMID:32865313|PMID:36909829
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:16199547|PMID:19268277|PMID:20104588|PMID:22334370|PMID:23847139|PMID:24033266|PMID:25741868|PMID:26047050|PMID:26261414|PMID:26854980|PMID:28492532|PMID:32865313|PMID:36909829
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:1596	depressive disorder		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:1826	epilepsy		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:1909	melanoma		ISO	RGD:1345087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:2841	asthma		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:4362	cervical cancer		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:480	movement disease		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1345087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:5723	optic atrophy		ISO	RGD:1345087	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:630	genetic disease		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19268277|PMID:21310915|PMID:22136677|PMID:22334370|PMID:23847139|PMID:25133751|PMID:25412400|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26261414|PMID:27208204|PMID:28492532|PMID:31589614|PMID:31964843|PMID:32856788|PMID:33090715|PMID:33173045|PMID:33749171|PMID:3646071|PMID:36460718|PMID:36524988|PMID:36819107
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:9001733	Tinnitus		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:9007736	Vertigo		ISO	RGD:1345087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28481129|PMID:28492532
12079909	SPATA7	spermatogenesis associated 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1345087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:0060058	lymphoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	PMID:25741868
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:737583	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:10534	stomach cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:1115	sarcoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737583	D	RGD:9068941	20200609	RGD			PMID:15345656|REF_RGD_ID:1580779
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:1324	lung cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:1909	melanoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:2394	ovarian cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:3275	thymoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:4362	cervical cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:5041	esophageal cancer		ISO	RGD:737583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:6039	uveal melanoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:630	genetic disease		ISO	RGD:737583	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9003566	Mesothelioma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9007661	Dwarfism		ISO	RGD:737583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9009351	Rhabdomyolysis 1		ISO	RGD:737583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OBSCN-related condition | ClinVar Annotator: match by term: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 1	PMID:16199547|PMID:25741868|PMID:28492532|PMID:34957489|PMID:38159459|PMID:40186404|PMID:40813169|PMID:41645489
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9009351	Rhabdomyolysis 1	susceptibility	ISO	RGD:737583	D	RGD:7240710	20250625	OMIM			
12079930	OBSCN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080052	LRRN3	leucine rich repeat neuronal 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20678249
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:1324	lung cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:1909	melanoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1322509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080060	SLC22A15	solute carrier family 22 member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0051061	stroke		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:19741150|REF_RGD_ID:2315083
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0060074	ductal carcinoma in situ	severity	ISO	RGD:1350530	D	RGD:9068941	20200609	RGD		protein:increased activity:breast	PMID:17060931|REF_RGD_ID:2315078
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0060180	colitis		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17551092
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40	PMID:25741868
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0080001	bone disease		ISO	RGD:1350530	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disorder of bone	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0080199	colorectal carcinoma	severity	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:11443610|REF_RGD_ID:150521545
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0080855	Parkinsonism		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:16529858|REF_RGD_ID:1581410
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18385429
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:10003	sensorineural hearing loss	treatment	ISO	RGD:8870238	D	RGD:9068941	20200609	RGD			PMID:24472721|REF_RGD_ID:11554193
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:prostate gland, membrane	PMID:19447874|REF_RGD_ID:2315077
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1350530	D	RGD:9068941	20210611	RGD		human cells in mouse model	PMID:29408335|REF_RGD_ID:127284846
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:10763	hypertension		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:16157790|REF_RGD_ID:1601372
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11723127|PMID:17093206
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:11476	osteoporosis		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1205	allergic disease		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergies	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:12528	lesion of sciatic nerve		ISO	RGD:620795	D	RGD:9068941	20250201	RGD		protein:increased expression:neuron, schwann, sciatic nerve	PMID:12655602|REF_RGD_ID:597538601
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1520	colon carcinoma		ISO	RGD:1350530	D	RGD:9068941	20211112	RGD		protein:increased phosphorylating activity:colon mucosa	PMID:2436227|REF_RGD_ID:150521541
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1588	thrombocytopenia		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1824	status epilepticus		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16600505
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1824	status epilepticus		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:16600505|REF_RGD_ID:1581409
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:733401	D	RGD:9068941	20220825	MouseDO		OMIM:194050	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:219	colon cancer		ISO	RGD:1350530	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon cancer, advanced	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:9988270|REF_RGD_ID:1601371
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:7678609|REF_RGD_ID:150521542
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:2316	brain ischemia		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:15854740|REF_RGD_ID:1581411
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:21282564|REF_RGD_ID:150520218
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:12826049|REF_RGD_ID:150521546
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:12826049|REF_RGD_ID:150521546
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:4971	myelofibrosis		ISO	RGD:1350530	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Myelofibrosis	PMID:25741868|PMID:26936507|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:5742	pancreatic acinar cell adenocarcinoma	disease_progression	ISO	RGD:620795	D	RGD:9068941	20211126	RGD			PMID:8569183|REF_RGD_ID:150523792
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD			PMID:9581679|REF_RGD_ID:150521543
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:620795	D	RGD:9068941	20211112	RGD			PMID:9581679|REF_RGD_ID:150521543
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1350530	D	RGD:9068941	20211112	RGD		associated with colon adenocarcinoma,	PMID:21282564|REF_RGD_ID:150520218
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1350530	D	RGD:9068941	20211112	RGD		associated with colorectal carcinoma;protein:increased activity:colorectum:	PMID:7687314|REF_RGD_ID:150521537
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733401	D	RGD:9068941	20200609	RGD			PMID:15486073|REF_RGD_ID:1581401
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620795	D	RGD:9068941	20240629	RGD		protein:increased phosphorylation:spinal cord	PMID:27394444|REF_RGD_ID:405866373
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9002910	Hearing Loss, Noise-Induced	treatment	ISO	RGD:8870238	D	RGD:9068941	20200609	RGD			PMID:21840347|REF_RGD_ID:11554196
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14569062
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18194989
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620795	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:hippocampus CA1 (rat)	PMID:20197063|REF_RGD_ID:2325012
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18844224|PMID:21291860
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9004763	Trauma and Stressor Related Disorders	disease_progression	ISO	RGD:620795	D	RGD:9068941	20220428	RGD			PMID:22078298|REF_RGD_ID:152023731
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9005009	Thrombocytopenia 6		ISO	RGD:1350530	D	RGD:7240710	20190315	OMIM			
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9005009	Thrombocytopenia 6		ISO	RGD:1350530	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: SRC-related condition | ClinVar Annotator: match by term: Thrombocytopenia 6	PMID:25741868|PMID:26936507|PMID:28492532|PMID:32581362
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9005111	morphine withdrawal syndrome	ameliorates	ISO	RGD:733401	D	RGD:9068941	20250130	RGD			PMID:28818835|REF_RGD_ID:597538594
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9005968	Neuralgia	treatment	ISO	RGD:620795	D	RGD:9068941	20211119	RGD			PMID:33746000|REF_RGD_ID:150521727
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:12819032|REF_RGD_ID:1580850
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9006618	Liver Metastasis	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD		associated with colon cancer;protein:increased activity:colon	PMID:7678609|REF_RGD_ID:150521542
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9007970	Chronic Cerebral Hypoperfusion	treatment	ISO	RGD:620795	D	RGD:9068941	20250201	RGD			PMID:32184165|REF_RGD_ID:597538600
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9008217	Hemorrhage		ISO	RGD:1350530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding	PMID:25741868
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350530	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350530	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21357651
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:19830888|REF_RGD_ID:2315076
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1350530	D	RGD:9068941	20211119	RGD		associated with nasopharynx carcinoma;	PMID:27078847|REF_RGD_ID:150521726
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9009121	lung metastasis	treatment	ISO	RGD:1350530	D	RGD:9068941	20211112	RGD		associated with breast cancer;	PMID:15753384|REF_RGD_ID:1581400
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1350530	D	RGD:7240710	20200226	OMIM			
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1350530	D	RGD:9068941	20211119	RGD			PMID:27078847|REF_RGD_ID:150521726
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350530	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:platelets	PMID:15542065|REF_RGD_ID:1601373
12080083	SRC	SRC proto-oncogene, non-receptor tyrosine kinase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620795	D	RGD:9068941	20200609	RGD			PMID:19230846|REF_RGD_ID:2307340
12080152	SCAMP2	secretory carrier membrane protein 2	gene	DOID:1909	melanoma		ISO	RGD:68490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080152	SCAMP2	secretory carrier membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:68490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080152	SCAMP2	secretory carrier membrane protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:68490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080152	SCAMP2	secretory carrier membrane protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080152	SCAMP2	secretory carrier membrane protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1316086	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316086	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0060867	macrocephaly-autism syndrome		ISO	RGD:1316086	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Macrocephaly/autism syndrome	PMID:32720330
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1316086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0070295	primary autosomal dominant microcephaly 18		ISO	RGD:1316086	D	RGD:7240710	20190315	OMIM			
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0070295	primary autosomal dominant microcephaly 18		ISO	RGD:1316086	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly 18, primary, autosomal dominant | ClinVar Annotator: match by term: WDFY3-related condition | ClinVar Annotator: match by term: WDFY3-related disorder	PMID:25741868|PMID:27008544|PMID:28492532|PMID:31327001|PMID:33994118
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:27008544
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1316086	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:10283	prostate cancer		ISO	RGD:1316086	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:1059	intellectual disability		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:10907	microcephaly		ISO	RGD:1316086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:583	hemolytic anemia		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:27008544
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27824329|PMID:28263302|PMID:28492532|PMID:31327001
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316086	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26402605|PMID:27008544|PMID:27824329|PMID:31327001
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31327001
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080174	WDFY3	WD repeat and FYVE domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080254	SEPTIN2	septin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080254	SEPTIN2	septin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080254	SEPTIN2	septin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080254	SEPTIN2	septin 2	gene	DOID:1115	sarcoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080254	SEPTIN2	septin 2	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1342947	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
12080254	SEPTIN2	septin 2	gene	DOID:1909	melanoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080254	SEPTIN2	septin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12080254	SEPTIN2	septin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12080254	SEPTIN2	septin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342947	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080254	SEPTIN2	septin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12080254	SEPTIN2	septin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080254	SEPTIN2	septin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:0060058	lymphoma		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:1324	lung cancer		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:4362	cervical cancer		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:5041	esophageal cancer		ISO	RGD:736892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080277	ACOX3	acyl-CoA oxidase 3, pristanoyl	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080311	TTC34	tetratricopeptide repeat domain 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080311	TTC34	tetratricopeptide repeat domain 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080311	TTC34	tetratricopeptide repeat domain 34	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12080311	TTC34	tetratricopeptide repeat domain 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080330	OCM	oncomodulin	gene	DOID:10534	stomach cancer		ISO	RGD:1625849	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080330	OCM	oncomodulin	gene	DOID:1909	melanoma		ISO	RGD:1625849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:10634	D	RGD:9068941	20220825	MouseDO		OMIM:202700 | OMIM:300299 | OMIM:610738 | OMIM:612541 | OMIM:613107 | OMIM:615285 | OMIM:616022	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0050748	marginal zone lymphoma	disease_progression	ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:15231650|REF_RGD_ID:1581305
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone marrow:	PMID:18371060|REF_RGD_ID:11040459
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:22932805|REF_RGD_ID:11040453
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:733642	D	RGD:7240710	20180130	OMIM			
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:733642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GFI1-related condition | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant | ClinVar Annotator: match by term: Severe congenital neutropenia 2, autosomal dominant	PMID:12778173|PMID:17576681|PMID:18328744|PMID:24033266|PMID:25741868|PMID:27013732|PMID:28492532|PMID:32066420|PMID:36112213|PMID:37216690|PMID:9536098
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:11810106|REF_RGD_ID:11040449
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD		DNA:mutation:exon:	PMID:22684987|REF_RGD_ID:11040456
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:1240	leukemia		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow mononuclear cell:	PMID:20723283|REF_RGD_ID:11040452
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733642	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:8692	myeloid leukemia		ISO	RGD:10634	D	RGD:9068941	20200609	RGD			PMID:21732494|REF_RGD_ID:11040451
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16122429
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase		ISO	RGD:733642	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:mononuclea cell, CD34+ cell	PMID:19887785|REF_RGD_ID:11040457
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	disease_progression	ISO	RGD:733642	D	RGD:9068941	20200609	RGD			PMID:23411466|REF_RGD_ID:11040461
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult		ISO	RGD:733642	D	RGD:7240710	20180130	OMIM			
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9006946	Nonimmune Chronic Idiopathic Neutropenia, Adult		ISO	RGD:733642	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonimmune chronic idiopathic neutropenia of adults	PMID:12778173|PMID:25741868|PMID:28492532
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733642	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12080338	GFI1	growth factor independent 1 transcriptional repressor	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:733642	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:c.107G>A(rs34631763)(human)	PMID:20075157|REF_RGD_ID:11040450
12080349	NRL	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:7240710	20260203	OMIM			
12080349	NRL	neural retina leucine zipper	gene	DOID:0061232	enhanced S-cone syndrome 2		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ENHANCED S-CONE SYNDROME 2	PMID:11694879|PMID:15591106|PMID:17335001|PMID:25412400|PMID:25741868|PMID:28341476|PMID:28492532|PMID:34906470
12080349	NRL	neural retina leucine zipper	gene	DOID:0090059	enhanced S-cone syndrome		ISO	RGD:1313083	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Enhanced S-cone syndrome	PMID:11694879|PMID:15591106|PMID:25741868|PMID:27732723|PMID:28492532|PMID:31456290
12080349	NRL	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:7240710	20180130	OMIM			
12080349	NRL	neural retina leucine zipper	gene	DOID:0110397	retinitis pigmentosa 27		ISO	RGD:1313083	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NRL-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 27 | ClinVar Annotator: match by term: Retinitis pigmentosa 27 | ClinVar Annotator: match by term: retinitis pigmentosa 27	PMID:11385710|PMID:15591106|PMID:15994872|PMID:17335001|PMID:21981118|PMID:25741868|PMID:28106895|PMID:28492532
12080349	NRL	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:27624628|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
12080349	NRL	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:27081294|PMID:28492532
12080349	NRL	neural retina leucine zipper	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15591106|PMID:17335001|PMID:23534816|PMID:25741868|PMID:28492532|PMID:29385733|PMID:34906470|PMID:35693422
12080349	NRL	neural retina leucine zipper	gene	DOID:630	genetic disease		ISO	RGD:1313083	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12080349	NRL	neural retina leucine zipper	gene	DOID:8466	retinal degeneration		ISO	RGD:1313083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15591106
12080349	NRL	neural retina leucine zipper	gene	DOID:8499	night blindness		ISO	RGD:1313083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12796249|PMID:15591106
12080349	NRL	neural retina leucine zipper	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11879142|PMID:15591106|PMID:17335|PMID:17335001|PMID:25741868|PMID:28492532|PMID:29385733|PMID:33691693|PMID:34906470|PMID:36819107
12080349	NRL	neural retina leucine zipper	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroidal neovascularization	PMID:25741868|PMID:28492532|PMID:29385733
12080349	NRL	neural retina leucine zipper	gene	DOID:9001386	Albinism		ISO	RGD:1313083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:25741868|PMID:28492532|PMID:29385733
12080349	NRL	neural retina leucine zipper	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1313083	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868|PMID:28492532|PMID:29385733
12080349	NRL	neural retina leucine zipper	gene	DOID:9002843	Waardenburg Syndrome Type 2		ISO	RGD:1313083	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome type 2	PMID:25741868|PMID:28492532
12080355	MYOM2	myomesin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080355	MYOM2	myomesin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080355	MYOM2	myomesin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080355	MYOM2	myomesin 2	gene	DOID:1115	sarcoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080355	MYOM2	myomesin 2	gene	DOID:1324	lung cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080355	MYOM2	myomesin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12080355	MYOM2	myomesin 2	gene	DOID:3275	thymoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12080355	MYOM2	myomesin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080355	MYOM2	myomesin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080355	MYOM2	myomesin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12080355	MYOM2	myomesin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080355	MYOM2	myomesin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080355	MYOM2	myomesin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080355	MYOM2	myomesin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080355	MYOM2	myomesin 2	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1343651	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868
12080355	MYOM2	myomesin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080355	MYOM2	myomesin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080356	BAG4	BAG cochaperone 4	gene	DOID:0060058	lymphoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12080356	BAG4	BAG cochaperone 4	gene	DOID:10534	stomach cancer		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080356	BAG4	BAG cochaperone 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1350570	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:10799310|REF_RGD_ID:2325852
12080356	BAG4	BAG cochaperone 4	gene	DOID:3070	high grade glioma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12080356	BAG4	BAG cochaperone 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12080356	BAG4	BAG cochaperone 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080356	BAG4	BAG cochaperone 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080368	KRBA1	KRAB-A domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080413	PRG4	proteoglycan 4	gene	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome		ISO	RGD:1319063	D	RGD:7240710	20180130	OMIM			
12080413	PRG4	proteoglycan 4	gene	DOID:0090127	camptodactyly-arthropathy-coxa vara-pericarditis syndrome		ISO	RGD:1319063	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME | ClinVar Annotator: match by term: Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | ClinVar Annotator: match by term: PRG4-related condition	PMID:21565623|PMID:25741868|PMID:29397575|PMID:31680123|PMID:38593426|PMID:38856641|PMID:41626297
12080413	PRG4	proteoglycan 4	gene	DOID:1115	sarcoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080413	PRG4	proteoglycan 4	gene	DOID:1787	pericarditis		ISO	RGD:1319063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
12080413	PRG4	proteoglycan 4	gene	DOID:1787	pericarditis		ISO	RGD:1319063	D	RGD:9068941	20200609	RGD			PMID:16429407|REF_RGD_ID:1580712
12080413	PRG4	proteoglycan 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080413	PRG4	proteoglycan 4	gene	DOID:630	genetic disease		ISO	RGD:1319063	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12080413	PRG4	proteoglycan 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12080413	PRG4	proteoglycan 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080413	PRG4	proteoglycan 4	gene	DOID:9002221	Hyperplasia		ISO	RGD:1319063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
12080413	PRG4	proteoglycan 4	gene	DOID:9006836	Contracture		ISO	RGD:1319063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545950
12080413	PRG4	proteoglycan 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080413	PRG4	proteoglycan 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080432	C35H6orf52	chromosome 35 C6orf52 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080432	C35H6orf52	chromosome 35 C6orf52 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080462	MXD4	MAX dimerization protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:1612	breast cancer		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:732679	D	RGD:9068941	20200609	RGD		DNA,mRNA:hypomethylation,increased expression:promoter,breast	PMID:19010819|REF_RGD_ID:6484520
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:299	adenocarcinoma	susceptibility	ISO	RGD:732680	D	RGD:9068941	20200609	RGD			PMID:12119409|REF_RGD_ID:737746
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:417	autoimmune disease		ISO	RGD:732680	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E160D	PMID:17589521|REF_RGD_ID:6484213
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9002245	Intestinal Neoplasms	disease_progression	ISO	RGD:10166	D	RGD:9068941	20200609	RGD		DNA:haploinsufficiency: :	PMID:12119409|REF_RGD_ID:737746
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28371273
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732680	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E160D	PMID:17589521|REF_RGD_ID:6484213
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:732679	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
12080566	FEN1	flap structure-specific endonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12080575	FLCN	folliculin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:20618353|PMID:21538689|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27220747|PMID:27355777|PMID:27363283|PMID:27734835|PMID:27905298|PMID:27997549|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:0050676	Birt-Hogg-Dube syndrome		IAGP		D	RGD:12801476	20250806	OMIA		Renal cystadenocarcinoma and nodular dermatofibrosis	PMID:9335089|PMID:9403809|PMID:10759551|PMID:4049673|PMID:14532326|PMID:11032680|PMID:2251742|PMID:22871425|PMID:19387735|PMID:18984793|PMID:18219524|PMID:15366374|PMID:15157018|PMID:3793598|PMID:30672048|PMID:34861369|PMID:38450946|PMID:40723533
12080575	FLCN	folliculin	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1604509	D	RGD:7240710	20180130	OMIM			
12080575	FLCN	folliculin	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BIRT-HOGG-DUBE SYNDROME 1 | ClinVar Annotator: match by term: Birt Hogg Dubé syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome 1 | ClinVar Annotator: match by term: FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS	PMID:12204536|PMID:12471204|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18663353|PMID:18794106|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19801896|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21356586|PMID:21412933|PMID:21506000|PMID:21520333|PMID:21538689|PMID:22146830|PMID:22382802|PMID:22441547|PMID:22571569|PMID:22977732|PMID:23052100|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23414156|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24346394|PMID:24393238|PMID:24910976|PMID:25302759|PMID:25401301|PMID:25519458|PMID:25537564|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25807935|PMID:26028485|PMID:26334087|PMID:26342594|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26689913|PMID:26763815|PMID:26928018|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27734835|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28031834|PMID:28492532|PMID:28558743|PMID:28724667|PMID:28785590|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30586397|PMID:30632664|PMID:30923304|PMID:31266032|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33057194|PMID:33137092|PMID:33294559|PMID:33927747|PMID:34008892|PMID:34604083|PMID:35101336|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:35946080|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37170274|PMID:37370942|PMID:37490463|PMID:37520842|PMID:38552456|PMID:41549261|PMID:8558743|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080575	FLCN	folliculin	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 17p11.2 microduplication syndrome | ClinVar Annotator: match by term: Potocki-Lupski syndrome (dup(17)(p11.2p11.2))	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22977732|PMID:23784378|PMID:23874397|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:27153395|PMID:27220747|PMID:27355777|PMID:27363283|PMID:27734835|PMID:27905298|PMID:27997549|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:7240710	20180523	OMIM			
12080575	FLCN	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial spontaneous pneumothorax | ClinVar Annotator: match by term: Pneumothorax, primary spontaneous	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22703879|PMID:23757202|PMID:23784378|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26659639|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27356891|PMID:27734835|PMID:27905298|PMID:28007907|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30476936|PMID:30632664|PMID:30709382|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34148334|PMID:34229741|PMID:34654685|PMID:34703430|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35495172|PMID:35578266|PMID:35639097|PMID:35648195|PMID:35946080|PMID:37520842|PMID:38552456|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:0080218	primary spontaneous pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial spontaneous pneumothorax | ClinVar Annotator: match by term: PNEUMOTHORAX, PRIMARY SPONTANEOUS | ClinVar Annotator: match by term: Pneumothorax, primary spontaneous	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17028174|PMID:17496196|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22068306|PMID:22441547|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24393238|PMID:25401301|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27220747|PMID:27355777|PMID:27363283|PMID:27734835|PMID:27905298|PMID:27997549|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33814490|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37182269|PMID:37490463|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:10534	stomach cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12080575	FLCN	folliculin	gene	DOID:1115	sarcoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12080575	FLCN	folliculin	gene	DOID:1324	lung cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080575	FLCN	folliculin	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23784378|PMID:23874397|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19457309|PMID:19802896|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:28492532|PMID:28558743
12080575	FLCN	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma	PMID:12843323|PMID:15805188|PMID:15852235|PMID:16199547|PMID:18234728|PMID:19116017|PMID:19457309|PMID:19562744|PMID:20618353|PMID:21937013|PMID:22703879|PMID:23050938|PMID:24033266|PMID:24393238|PMID:24728327|PMID:25594584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28558743|PMID:35176117
12080575	FLCN	folliculin	gene	DOID:1520	colon carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon carcinoma	PMID:25741868|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:1612	breast cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868
12080575	FLCN	folliculin	gene	DOID:1673	pneumothorax		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23784378|PMID:23874397|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28031834|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:1826	epilepsy		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:1909	melanoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:2394	ovarian cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:3462	hamartoma		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12204536|PMID:27072130
12080575	FLCN	folliculin	gene	DOID:4362	cervical cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080575	FLCN	folliculin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1604509	D	RGD:7240710	20180130	OMIM			
12080575	FLCN	folliculin	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:735088	D	RGD:9068941	20200609	RGD			PMID:16369488|REF_RGD_ID:13605606
12080575	FLCN	folliculin	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:15852235|PMID:16199547|PMID:25741868|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12080575	FLCN	folliculin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080575	FLCN	folliculin	gene	DOID:6245	renal oncocytoma		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12204536
12080575	FLCN	folliculin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080575	FLCN	folliculin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:9000915	Angiofibroma		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Angiofibromas	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23784378|PMID:23874397|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
12080575	FLCN	folliculin	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23784378|PMID:23874397|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28031834|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25126726|PMID:25326637|PMID:25519458|PMID:25594584|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30580288|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:28007907|PMID:28151982|PMID:28166811|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28891800|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35495172|PMID:35691222|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26387484|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31615547|PMID:31958439|PMID:32091409|PMID:32257251|PMID:33137092|PMID:33482948|PMID:34008892|PMID:34067022|PMID:34229741|PMID:35477461|PMID:35495172|PMID:35691222|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36410626|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36410626|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36315513|PMID:36410626|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36291753|PMID:36315513|PMID:36410626|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33057194|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34130653|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35534704|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36177613|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12204536|PMID:12471204|PMID:12843323|PMID:14627671|PMID:15657874|PMID:15805188|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17028174|PMID:17034545|PMID:17124507|PMID:17133269|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18403135|PMID:18505456|PMID:18579543|PMID:18663353|PMID:18794106|PMID:19116017|PMID:19457309|PMID:19562744|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:21937013|PMID:22068306|PMID:22146830|PMID:22441547|PMID:22571569|PMID:22679611|PMID:22703879|PMID:22977732|PMID:23050938|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23356225|PMID:23364595|PMID:23386036|PMID:23757202|PMID:23784378|PMID:23848572|PMID:23874397|PMID:24033266|PMID:24055113|PMID:24346394|PMID:24393238|PMID:24728327|PMID:25059020|PMID:25126726|PMID:25302759|PMID:25326637|PMID:25401301|PMID:25500447|PMID:25519458|PMID:25525159|PMID:25537564|PMID:25594584|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26334087|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:26763815|PMID:26928018|PMID:27146957|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27257988|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27722904|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27906882|PMID:27997549|PMID:28007907|PMID:28151982|PMID:28202063|PMID:28492532|PMID:28539984|PMID:28558743|PMID:28569218|PMID:28785590|PMID:28839995|PMID:28869776|PMID:28873162|PMID:28944238|PMID:28970150|PMID:29157599|PMID:29357828|PMID:29548312|PMID:29641532|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30190612|PMID:30360018|PMID:30476936|PMID:30533232|PMID:30548481|PMID:30580288|PMID:30586397|PMID:30632664|PMID:30709382|PMID:31266032|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31911633|PMID:31958439|PMID:32091409|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33057194|PMID:33137092|PMID:33294559|PMID:33313181|PMID:33332384|PMID:33482948|PMID:33726816|PMID:34000505|PMID:34008892|PMID:34067022|PMID:34130653|PMID:34148334|PMID:34229741|PMID:34326862|PMID:34433815|PMID:34604083|PMID:34654685|PMID:34703430|PMID:35126451|PMID:35176117|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35495172|PMID:35534704|PMID:35578266|PMID:35637701|PMID:35639097|PMID:35648195|PMID:35691222|PMID:35946080|PMID:36095024|PMID:36177613|PMID:36291753|PMID:36315513|PMID:36410626|PMID:36935552|PMID:37182269|PMID:37273290|PMID:37490463|PMID:37520842|PMID:38136308|PMID:38552456|PMID:38887977|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17034545|PMID:17124507|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18505456|PMID:18579543|PMID:19659657|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20413710|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22146830|PMID:22703879|PMID:22977732|PMID:23364595|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24055113|PMID:24393238|PMID:25302759|PMID:25401301|PMID:25519458|PMID:25537564|PMID:25637381|PMID:25741868|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26763815|PMID:26928018|PMID:27153395|PMID:27220747|PMID:27258496|PMID:27355777|PMID:27642565|PMID:27652079|PMID:27734835|PMID:27780965|PMID:28007907|PMID:28202063|PMID:28492532|PMID:28558743|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30476936|PMID:30586397|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32257251|PMID:32398770|PMID:32782288|PMID:33137092|PMID:33313181|PMID:34229741|PMID:35176117|PMID:35477461|PMID:35639097|PMID:35988656|PMID:36291753|PMID:37569793|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12204536|PMID:12471204|PMID:15852235|PMID:15956655|PMID:16199547|PMID:17034545|PMID:17124507|PMID:17496196|PMID:17576681|PMID:17611575|PMID:18234728|PMID:18505456|PMID:18579543|PMID:18794106|PMID:19562744|PMID:19785621|PMID:19802896|PMID:19850877|PMID:20301695|PMID:20413710|PMID:20522427|PMID:20618353|PMID:21506000|PMID:21538689|PMID:22146830|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:24393238|PMID:25302759|PMID:25401301|PMID:25537564|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:26928018|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27258496|PMID:27355777|PMID:27356891|PMID:27363283|PMID:27470329|PMID:27642565|PMID:27643397|PMID:27652079|PMID:27734835|PMID:27780965|PMID:27905298|PMID:27997549|PMID:28492532|PMID:28558743|PMID:28869776|PMID:28944238|PMID:28970150|PMID:29357828|PMID:29548312|PMID:29669049|PMID:29720200|PMID:29909963|PMID:30360018|PMID:30586397|PMID:31302073|PMID:31471370|PMID:31615547|PMID:31672913|PMID:31704029|PMID:31958439|PMID:32257251|PMID:32782288|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34145047|PMID:34229741|PMID:35101336|PMID:35176117|PMID:35221599|PMID:35477461|PMID:35578266|PMID:35639097|PMID:35946080|PMID:35988656|PMID:36291753|PMID:37370942|PMID:37520842|PMID:37569793|PMID:38552456|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12080575	FLCN	folliculin	gene	DOID:9007583	Cysts		ISO	RGD:1604509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27072130
12080575	FLCN	folliculin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1604509	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:7240710	20200226	OMIM			
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:29357828|PMID:29548312|PMID:30360018|PMID:34008892
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:17496196|PMID:18505456|PMID:18794106|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22703879|PMID:23155228|PMID:23217326|PMID:23757202|PMID:24033266|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:33137092|PMID:34008892|PMID:34067022
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:12843323|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:18794106|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22703879|PMID:22977732|PMID:23155228|PMID:23217326|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24033266|PMID:24055113|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:34067022|PMID:35691222|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17028174|PMID:17496196|PMID:17576681|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:19802896|PMID:20301695|PMID:20413710|PMID:20522427|PMID:21538689|PMID:22977732|PMID:23264078|PMID:23757202|PMID:23784378|PMID:24728327|PMID:25326637|PMID:25401301|PMID:25519458|PMID:25610687|PMID:25637381|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26467025|PMID:26580448|PMID:26603437|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27257988|PMID:27355777|PMID:27652079|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28839995|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30548481|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:34008892|PMID:9536098
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22441547|PMID:23757202|PMID:23784378|PMID:24346394|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30632664|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:16199547|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19116017|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:22441547|PMID:23757202|PMID:23784378|PMID:24346394|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27153395|PMID:27220747|PMID:27229674|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28558743|PMID:28785590|PMID:28839995|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30632664|PMID:31471370|PMID:31615547|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:21538689|PMID:23757202|PMID:23784378|PMID:25326637|PMID:25519458|PMID:25610687|PMID:25741868|PMID:25827758|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26659639|PMID:27220747|PMID:27734835|PMID:27905298|PMID:28492532|PMID:28839995|PMID:28873162|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:30709382|PMID:31471370|PMID:31958439|PMID:32091409|PMID:33137092|PMID:33294559|PMID:33332384|PMID:34008892|PMID:34229741|PMID:34654685|PMID:35221599|PMID:35441217|PMID:35477461|PMID:35578266|PMID:35639097|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12843323|PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15852235|PMID:18234728|PMID:18505456|PMID:20618353|PMID:22977732|PMID:23386036|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27355777|PMID:27734835|PMID:28492532|PMID:28970150|PMID:36177613
12080575	FLCN	folliculin	gene	DOID:9256	colorectal cancer		ISO	RGD:1604509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12204536|PMID:12471204|PMID:15852235|PMID:17496196|PMID:18234728|PMID:18505456|PMID:19562744|PMID:20301695|PMID:20522427|PMID:20618353|PMID:21538689|PMID:22977732|PMID:23386036|PMID:23784378|PMID:23874397|PMID:25401301|PMID:25637381|PMID:25741868|PMID:26028485|PMID:26402642|PMID:26467025|PMID:26580448|PMID:27153395|PMID:27220747|PMID:27355777|PMID:27363283|PMID:27734835|PMID:27905298|PMID:27997549|PMID:28492532|PMID:28970150|PMID:29357828|PMID:29548312|PMID:30360018|PMID:30586397|PMID:31471370|PMID:31958439|PMID:33137092|PMID:33294559|PMID:34008892|PMID:35101336|PMID:35221599|PMID:35578266|PMID:35946080|PMID:37520842|PMID:38552456
12080575	FLCN	folliculin	gene	DOID:9970	obesity		ISO	RGD:1604509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15852235|PMID:18234728|PMID:25741868|PMID:27734835|PMID:28492532
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:69002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:0060950	hypervalinemia and hyperleucine-isoleucinemia		ISO	RGD:69002	D	RGD:7240710	20200715	OMIM			
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:0060950	hypervalinemia and hyperleucine-isoleucinemia		ISO	RGD:69002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCAT2-related condition | ClinVar Annotator: match by term: HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA | ClinVar Annotator: match by term: Hypervalinemia and hyperleucine-isoleucinemia	PMID:25741868|PMID:28492532|PMID:30626930|PMID:31177572
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:10534	stomach cancer		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:1115	sarcoma		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:1909	melanoma		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:69002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14755340
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:69003	D	RGD:9068941	20200609	RGD			PMID:14755340|REF_RGD_ID:1300291
12080609	BCAT2	branched chain amino acid transaminase 2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:69003	D	RGD:9068941	20220825	MouseDO		OMIM:246900 | OMIM:248600 | OMIM:615135	
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:12308	Dubin-Johnson syndrome		ISO	RGD:621389	D	RGD:9068941	20200609	RGD			PMID:14731123|REF_RGD_ID:1598620
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:621389	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1607085	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080674	SLCO1A2	solute carrier organic anion transporter family member 1A2	gene	DOID:9452	steatotic liver disease		ISO	RGD:621389	D	RGD:9068941	20200609	RGD			PMID:16139386|REF_RGD_ID:1598602
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:10534	stomach cancer		ISO	RGD:1607018	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:1324	lung cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:2394	ovarian cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:4362	cervical cancer		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080726	SLC25A40	solute carrier family 25 member 40	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1607018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1553810	D	RGD:9068941	20220825	MouseDO		OMIM:107650	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:0080011	bone resorption disease		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17513972
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:0080387	nephrotic syndrome type 12		ISO	RGD:1344234	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome, type 12	PMID:25741868
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:0110113	atrial heart septal defect 8		ISO	RGD:1344234	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 8	PMID:28492532
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	PMID:27657687|PMID:28492532
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:10283	prostate cancer		ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:15861517|REF_RGD_ID:2289031
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		DNA:amplification:prostate gland	PMID:17656261|REF_RGD_ID:2289030
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:11111	hydronephrosis		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:27657687
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:1115	sarcoma		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:11400	pyelonephritis		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16034630|REF_RGD_ID:2289039
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		associated with Kidney Reperfusion Injury;protein:increased expression:kidney	PMID:16284088|REF_RGD_ID:1601494
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:14766	renal agenesis		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:27657687
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:1612	breast cancer		ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17004110|REF_RGD_ID:1643590
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:1909	melanoma		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:2154	nephroblastoma		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:9808158|REF_RGD_ID:2289034
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:289	endometriosis		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344234	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: therapeutic	PMID:17975199|PMID:25733726
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:15277215|REF_RGD_ID:2289032
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1344234	D	RGD:9068941	20200609	RGD			PMID:17644140|REF_RGD_ID:1643589
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:557	kidney disease		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16549155|REF_RGD_ID:2289038
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1344234	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:8398	osteoarthritis		ISO	RGD:1553810	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1553810	D	RGD:9068941	20210611	RGD		mRNA:increased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:increased expression:bone	PMID:12539225|REF_RGD_ID:2289033
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1344234	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:breast	PMID:17895257|REF_RGD_ID:2289029
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9001547	Tibial Fractures		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		protein:increased expression:tibia	PMID:16651391|REF_RGD_ID:2289037
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17127702
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:620743	D	RGD:9068941	20230209	RGD		protein:increased expression:lung, pulmonary artery (rat)	PMID:31542483|REF_RGD_ID:155888480
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620743	D	RGD:9068941	20200609	RGD			PMID:17437042|REF_RGD_ID:2289036
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:19283074
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9002589	Bone Fractures		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27394662
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9002809	Congenital Heart Defects, Multiple Types, 4		ISO	RGD:1344234	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types, 4	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9003959	Ventricular Septal Defect 1		ISO	RGD:1344234	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect 1	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9007402	Gliosis		ISO	RGD:620743	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:17696121|REF_RGD_ID:1643225
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9008763	Femoral Fractures		ISO	RGD:1344234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16234978
12080749	BMP7	bone morphogenetic protein 7	gene	DOID:9008763	Femoral Fractures		ISO	RGD:620743	D	RGD:9068941	20200609	RGD			PMID:9626398|REF_RGD_ID:2289041
12080768	PPP1R3C	protein phosphatase 1 regulatory subunit 3C	gene	DOID:10283	prostate cancer		ISO	RGD:1319302	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12080768	PPP1R3C	protein phosphatase 1 regulatory subunit 3C	gene	DOID:10283	prostate cancer		ISO	RGD:1319302	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12080768	PPP1R3C	protein phosphatase 1 regulatory subunit 3C	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12080768	PPP1R3C	protein phosphatase 1 regulatory subunit 3C	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319303	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:27633801
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:7240710	20180130	OMIM			
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1316914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C | ClinVar Annotator: match by term: YARS1-related disorder	PMID:14606043|PMID:16199547|PMID:16429158|PMID:17576681|PMID:19561293|PMID:21384131|PMID:24627108|PMID:25741868|PMID:26138142|PMID:26257172|PMID:26467025|PMID:26975778|PMID:27027447|PMID:28492532|PMID:29302074|PMID:30340945|PMID:3034524|PMID:30373780|PMID:31130284|PMID:31832804|PMID:34352414|PMID:34536092|PMID:34813128|PMID:36307205|PMID:36631979|PMID:37976411|PMID:39504961|PMID:9536098
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1316914	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:25741868
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:11252	microcytic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:11759	hypochromic anemia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypochromic anemia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia	PMID:27633801
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:2355	anemia		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:27633801
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21384131|PMID:25741868|PMID:26467025|PMID:28492532
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:7240710	20210728	OMIM			
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9000988	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 | ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28726809|PMID:29302074|PMID:3034524|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:34352414|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9006461	Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease		ISO	RGD:1316914	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	PMID:25741868
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34536092
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:27633801
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26467025|PMID:27633801|PMID:28492532|PMID:29302074|PMID:31130284|PMID:34352414|PMID:34536092|PMID:37976411
12080774	YARS1	tyrosyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1320975	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28492532|PMID:33543539
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060547	Hermansky-Pudlak syndrome 9		ISO	RGD:1320975	D	RGD:7240710	20180130	OMIM			
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:0060547	Hermansky-Pudlak syndrome 9		ISO	RGD:1320975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLOC1S6-related condition | ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 9 | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 9	PMID:10610180|PMID:16199547|PMID:17576681|PMID:21665000|PMID:22461475|PMID:25741868|PMID:28492532|PMID:32245340|PMID:33543539|PMID:9536098
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1320976	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1320975	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:10610180|PMID:21665000|PMID:22461475|PMID:25741868|PMID:26575419|PMID:28492532|PMID:33543539
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:630	genetic disease		ISO	RGD:1320975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12080795	BLOC1S6	biogenesis of lysosomal organelles complex 1 subunit 6	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1320976	D	RGD:9068941	20220825	MouseDO		OMIM:130700	
12080808	APOD	apolipoprotein D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080808	APOD	apolipoprotein D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080808	APOD	apolipoprotein D	gene	DOID:0051061	stroke		ISO	RGD:2137	D	RGD:9068941	20200609	RGD			PMID:17851453|REF_RGD_ID:2311182
12080808	APOD	apolipoprotein D	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid, hippocampus	PMID:9751198|REF_RGD_ID:2311209
12080808	APOD	apolipoprotein D	gene	DOID:11714	gestational diabetes		ISO	RGD:737460	D	RGD:9068941	20200609	RGD			PMID:6828336|REF_RGD_ID:2311180
12080808	APOD	apolipoprotein D	gene	DOID:1289	neurodegenerative disease		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18458334
12080808	APOD	apolipoprotein D	gene	DOID:1824	status epilepticus		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:10372566|REF_RGD_ID:2311203
12080808	APOD	apolipoprotein D	gene	DOID:3070	high grade glioma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12080808	APOD	apolipoprotein D	gene	DOID:4762	vasculogenic impotence		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA:increased expression:penis erectile tissue	PMID:11444882|REF_RGD_ID:2311196
12080808	APOD	apolipoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080808	APOD	apolipoprotein D	gene	DOID:8927	learning disability		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18419796
12080808	APOD	apolipoprotein D	gene	DOID:9000831	Hypokinesia		ISO	RGD:737460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21688324
12080808	APOD	apolipoprotein D	gene	DOID:9000998	Brain Injuries		ISO	RGD:2137	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex, glia cell, neuron	PMID:10501208|REF_RGD_ID:2311202
12080808	APOD	apolipoprotein D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080808	APOD	apolipoprotein D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737460	D	RGD:9068941	20200609	RGD			PMID:15369805|REF_RGD_ID:2311177
12080808	APOD	apolipoprotein D	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:7895459|REF_RGD_ID:2311178
12080808	APOD	apolipoprotein D	gene	DOID:9970	obesity		ISO	RGD:737460	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:7913935|REF_RGD_ID:2311179
12080847	SIK3	SIK family kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080847	SIK3	SIK family kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080847	SIK3	SIK family kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080847	SIK3	SIK family kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603681	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080847	SIK3	SIK family kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12080847	SIK3	SIK family kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080847	SIK3	SIK family kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603681	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080847	SIK3	SIK family kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12080847	SIK3	SIK family kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080847	SIK3	SIK family kinase 3	gene	DOID:9000975	Spondyloepimetaphyseal Dysplasia, Krakow Type		ISO	RGD:1603681	D	RGD:7240710	20190315	OMIM			
12080847	SIK3	SIK family kinase 3	gene	DOID:9000975	Spondyloepimetaphyseal Dysplasia, Krakow Type		ISO	RGD:1603681	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SIK3-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Krakow type	PMID:25741868|PMID:28492532
12080847	SIK3	SIK family kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080847	SIK3	SIK family kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080847	SIK3	SIK family kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0050745	diffuse large B-cell lymphoma	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		SNA:polymorphism(s)	PMID:15198731|REF_RGD_ID:2298905
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Liver Neoplasms	PMID:20045035|REF_RGD_ID:10413878
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0061225	interleukin-1 receptor antagonist deficiency		ISO	RGD:735440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sterile multifocal osteomyelitis with periostitis and pustulosis	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0080600	COVID-19		ISO	RGD:735440	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0080815	childhood-onset asthma	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210618	RGD		associated with respiratory syncytial virus infectious disease;DNA:SNPs:protomer: (rs2233409) (human)	PMID:23487427|REF_RGD_ID:40902982
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0080998	acute necrotizing pancreatitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19174608|REF_RGD_ID:10414072
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0081079	ectodermal dysplasia and immunodeficiency 2		ISO	RGD:735440	D	RGD:7240710	20180130	OMIM			
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:0081079	ectodermal dysplasia and immunodeficiency 2		ISO	RGD:735440	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2 | ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 | ClinVar Annotator: match by term: NFKBIA-related disorder	PMID:12167702|PMID:17576681|PMID:17931563|PMID:22078572|PMID:23708964|PMID:23870671|PMID:24033266|PMID:25601653|PMID:25741868|PMID:28492532|PMID:28629746|PMID:29948576|PMID:31618753|PMID:32581362|PMID:35753512|PMID:9536098
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer		ISO	RGD:735440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation	PMID:23093296|REF_RGD_ID:13506767
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2233406, rs3138053 (human)	PMID:26834482|REF_RGD_ID:13506766
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' UTR	PMID:26068031|REF_RGD_ID:11054182
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-826C>T, -881A>G (human)	PMID:26068031|REF_RGD_ID:11054182
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:10763	hypertension	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19246475|REF_RGD_ID:7495780
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:11383	cryptorchidism		ISO	RGD:10975	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:22777528|REF_RGD_ID:11567213
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:18938092|REF_RGD_ID:10413869
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:11650	bronchopulmonary dysplasia	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:SNPs:promoter: (rs2233406, rs2233409) (human)	PMID:23487427|REF_RGD_ID:40902982
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:1184	nephrotic syndrome	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:17441336|REF_RGD_ID:127285019
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10975	D	RGD:9068941	20210514	RGD			PMID:20696914|REF_RGD_ID:126908016
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:10975	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-826C>T,-881A>G (human)	PMID:26870106|REF_RGD_ID:13793394
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:13250	diarrhea	ameliorates	ISO	RGD:735440	D	RGD:9068941	20210521	RGD		human gene in a mouse model	PMID:20008138|REF_RGD_ID:126925947
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:3171	D	RGD:9068941	20210604	RGD			PMID:11961112|REF_RGD_ID:126928137
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27647909|PMID:35101336
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:1793	pancreatic cancer		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15861417
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201218	RGD		DNA:deletion:promoter: (rs28362491) (human)	PMID:30056167|REF_RGD_ID:40902826
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:1909	melanoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:insertion(s)	PMID:17492467|REF_RGD_ID:2298900
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210604	RGD		DNA:SNPs:promoter:-826C>T, -881A>G (rs2233406, rs3138053) (human)	PMID:25223483|REF_RGD_ID:40902986
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2316	brain ischemia		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18628779
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2349	arteriosclerosis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:10975	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation	PMID:15712212|REF_RGD_ID:2298768
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2526	prostate adenocarcinoma	severity	ISO	RGD:735440	D	RGD:9068941	20200609	RGD			PMID:15073126|REF_RGD_ID:13506768
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:289	endometriosis		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:23954358|REF_RGD_ID:10413877
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:735440	D	RGD:9068941	20210514	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:9379002|REF_RGD_ID:126908014
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		human cell line in a mouse model	PMID:15692608|REF_RGD_ID:127285387
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:3070	high grade glioma		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:3310	atopic dermatitis		ISO	RGD:10975	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21122797|REF_RGD_ID:10413868
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:4029	gastritis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections	PMID:25335260|REF_RGD_ID:10413874
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210528	RGD		associated with combined immunodeficiency;DNA:missense mutation:CDS:c.106T>G (p.S36A) (human)	PMID:31683054|REF_RGD_ID:126925985
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19616538|REF_RGD_ID:10413879
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:630	genetic disease		ISO	RGD:735440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22022477
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735440	D	RGD:9068941	20201211	RGD		associated with Chronic Hepatitis B;DNA:SNPs,haplotype:3'utr,promoter: 826C>T,881A>G (rs2233406,rs3138053) (human)	PMID:19797428|REF_RGD_ID:40400751
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210604	RGD		associated with hepatitis B;DNA:SNP:promoter:-826C>T (rs2233406) (human)	PMID:25223483|REF_RGD_ID:40902986
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223558
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD			PMID:10340377|REF_RGD_ID:2298893
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:deletion:C-terminally truncated protein	PMID:10556199|REF_RGD_ID:2298894
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:865	vasculitis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:8893	psoriasis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21134362|REF_RGD_ID:10413867
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:21642017|REF_RGD_ID:10413866
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000310	Lung Injury		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:19321049|REF_RGD_ID:10413876
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000873	Adenoviridae Infections	ameliorates	ISO	RGD:735440	D	RGD:9068941	20210521	RGD		human gene in a mouse model, associated with Animal Viral Hepatitis	PMID:10692445|REF_RGD_ID:126925948
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20199666|REF_RGD_ID:10413863
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		associated with prostate cancer;protein:increased serine phosphorylation	PMID:23093296|REF_RGD_ID:13506767
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000989	Pneumococcal Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:SNP: :(rs1050851) (human)	PMID:29407193|REF_RGD_ID:127285391
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9000989	Pneumococcal Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:SNPs:enhancers: (rs3138053, rs2233406) (human)	PMID:17463416|REF_RGD_ID:127285388
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9001131	stress-related disorder		ISO	RGD:3171	D	RGD:9068941	20250327	RGD		associated with binge drinking; mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26806094
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:3171	D	RGD:9068941	20210625	RGD			PMID:11557243|REF_RGD_ID:127285020
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain	PMID:20150961|REF_RGD_ID:10413872
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:20231522|REF_RGD_ID:10413875
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:10975	D	RGD:9068941	20200609	RGD			PMID:19399405|REF_RGD_ID:10413870
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:3171	D	RGD:9068941	20200709	RGD			PMID:31828147|REF_RGD_ID:35316072
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:3171	D	RGD:9068941	20210604	RGD			PMID:14662889|REF_RGD_ID:126928138
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9004702	Pregnancy Complications	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201218	RGD		associated with Cytomegalovirus Infections;DNA:SNP:promoter: -94ins/delATTG (human)	PMID:25792174|REF_RGD_ID:11342310
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:22483164|REF_RGD_ID:10413864
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20188823|REF_RGD_ID:10413873
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9005930	Endotoxemia	exacerbates	ISO	RGD:10975	D	RGD:9068941	20210514	RGD			PMID:19098124|REF_RGD_ID:126908017
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:10975	D	RGD:9068941	20210604	RGD			PMID:10229101|REF_RGD_ID:126928139
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9006262	Cytomegalovirus Infections	susceptibility	ISO	RGD:735440	D	RGD:9068941	20201211	RGD		associated with end stage renal disease;DNA:SNP:promoter: -94ins/delATTG (human)	PMID:30431214|REF_RGD_ID:40902821
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9006302	Binge Drinking		ISO	RGD:3171	D	RGD:9068941	20250327	RGD		mRNA:increased expression:hippocampus	PMID:29458194|REF_RGD_ID:598092572
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome		ISO	RGD:10975	D	RGD:9068941	20210625	RGD		protein:decreased expression:lymph node (mouse)	PMID:10429205|REF_RGD_ID:127285021
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:735440	D	RGD:9068941	20210618	RGD		associated with respiratory syncytial virus infectious disease;DNA:SNP:promoter: (rs2233406) (human)	PMID:23487427|REF_RGD_ID:40902982
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:19304943|REF_RGD_ID:10413871
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:735440	D	RGD:9068941	20210625	RGD		DNA:enhancers: :(rs2233406, rs2233409) (human)	PMID:29093318|REF_RGD_ID:127285389
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9008824	Sarcopenia		ISO	RGD:3171	D	RGD:9068941	20200609	RGD		protein:increased expression:soleus	PMID:15665035|REF_RGD_ID:10413861
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9538	multiple myeloma		ISO	RGD:735440	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:12377412|PMID:16540234|REF_RGD_ID:2298895|REF_RGD_ID:2298898
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9588	encephalitis		ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:16006567|REF_RGD_ID:5147676
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9675	pulmonary emphysema	treatment	ISO	RGD:3171	D	RGD:9068941	20200609	RGD			PMID:20472710|REF_RGD_ID:4891488
12080881	NFKBIA	NFKB inhibitor alpha	gene	DOID:9965	toxoplasmosis	exacerbates	ISO	RGD:735440	D	RGD:9068941	20210528	RGD		human gene in a mouse model	PMID:12626571|REF_RGD_ID:126925984
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:10534	stomach cancer		ISO	RGD:1601705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:1324	lung cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:1909	melanoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:3275	thymoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:4362	cervical cancer		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080891	ANKRD52	ankyrin repeat domain 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12080923	WDR46	WD repeat domain 46	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080923	WDR46	WD repeat domain 46	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080923	WDR46	WD repeat domain 46	gene	DOID:1115	sarcoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080923	WDR46	WD repeat domain 46	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12080923	WDR46	WD repeat domain 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080923	WDR46	WD repeat domain 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12080923	WDR46	WD repeat domain 46	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12080923	WDR46	WD repeat domain 46	gene	DOID:9000918	Disease Progression		ISO	RGD:1353590	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12080923	WDR46	WD repeat domain 46	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080923	WDR46	WD repeat domain 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12080942	CGN	cingulin	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1323740	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss	PMID:25741868
12080942	CGN	cingulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080942	CGN	cingulin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323740	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12080942	CGN	cingulin	gene	DOID:10534	stomach cancer		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080942	CGN	cingulin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12080942	CGN	cingulin	gene	DOID:4362	cervical cancer		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080942	CGN	cingulin	gene	DOID:5041	esophageal cancer		ISO	RGD:1323740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12080942	CGN	cingulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080942	CGN	cingulin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12080942	CGN	cingulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1322006	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1322006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20663923
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1322006	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:3275	thymoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:9001781	Wilms Tumor 5		ISO	RGD:1322006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POU6F2-related condition | ClinVar Annotator: match by term: WILMS TUMOR 5 | ClinVar Annotator: match by term: Wilms tumor 5	PMID:11284034|PMID:25741868|PMID:28492532
12080980	POU6F2	POU class 6 homeobox 2	gene	DOID:9001781	Wilms Tumor 5	susceptibility	ISO	RGD:1322006	D	RGD:7240710	20190502	OMIM			
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1344942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12080993	TEAD2	TEA domain transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	disease_progression	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:27859576|REF_RGD_ID:14401742
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:16476970|PMID:18798077|REF_RGD_ID:8551819|REF_RGD_ID:8551837
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:11543653|REF_RGD_ID:14401732
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		Respiratory Syndrome, Severe Acute; mRNA:increased expression:lung (mouse)	PMID:19906920|REF_RGD_ID:4891446
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:733487	D	RGD:9068941	20220825	MouseDO			
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, liver, intestine (mouse)	PMID:19571824|REF_RGD_ID:4892067
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0110759	type 1 diabetes mellitus 22		ISO	RGD:1351344	D	RGD:9068941	20260730	CTD		CTD Direct Evidence: marker/mechanism	
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:0110759	type 1 diabetes mellitus 22	susceptibility	ISO	RGD:1351344	D	RGD:7240710	20260729	OMIM			
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10140	dry eye syndrome		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:conjunctiva, epithelial cell	PMID:16682594|REF_RGD_ID:8549761
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10322	berylliosis	disease_progression	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:5' utr:multiple (human)	PMID:20075058|REF_RGD_ID:4892065
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:106	pleural tuberculosis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:pleural fluid, natural killer cell (human)	PMID:19159432|REF_RGD_ID:4145106
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, microglia (human)	PMID:9665462|REF_RGD_ID:4890447
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:15979806|REF_RGD_ID:4890446
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10763	hypertension		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:12680626|REF_RGD_ID:1581182
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10763	hypertension		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta (rat)	PMID:20044442|REF_RGD_ID:4890416
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:10952	nephritis		ISO	RGD:1351344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055553
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:11263	chlamydia		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:16118671|REF_RGD_ID:8549760
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:11335	sarcoidosis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		Lofgren Syndrome; DNA:polymorphisms:5' utr:multiple (human)	PMID:18311470|REF_RGD_ID:4892086
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:11382	corneal neovascularization		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:12556387|REF_RGD_ID:734790
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1210	optic neuritis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:11966770|REF_RGD_ID:8551840
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:12858455|REF_RGD_ID:4892114
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12574	posterior uveitis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:17417600|REF_RGD_ID:8551817
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:18292527|REF_RGD_ID:4892087
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr:g.-2459A>G, g.-2554G>T (human)	PMID:12964123|REF_RGD_ID:4892113
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, monocyte (human)	PMID:18439876|REF_RGD_ID:4892079
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:12412204|REF_RGD_ID:8551796
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12894	Sjogren's syndrome	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:23773920|REF_RGD_ID:8551818
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:12895	keratoconjunctivitis sicca		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:16159632|REF_RGD_ID:8549757
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:1351344	D	RGD:9068941	20260430	RGD		protein:increased expression:kidney interstitium, leukocyte	PMID:11012889|REF_RGD_ID:645233553
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13141	uveitis		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:conjunctiva, ciliary body	PMID:19104678|REF_RGD_ID:2306302
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13241	Behcet's disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:17067435|REF_RGD_ID:8551814
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13241	Behcet's disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell (human)	PMID:15501397|REF_RGD_ID:4892106
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:15009175|REF_RGD_ID:8551827
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, T-helper cell (mouse)	PMID:16988274|REF_RGD_ID:4892091
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, haplotypes: :p.S185_T195del (rs333) (human)	PMID:15962231|REF_RGD_ID:8551815
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:17672867|REF_RGD_ID:8551811
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13378	Kawasaki disease	treatment	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:multiple	PMID:20628649|REF_RGD_ID:8551812
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:5' utr:multiple (human)	PMID:19679608|REF_RGD_ID:4892066
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:13406	pulmonary sarcoidosis	disease_progression	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:altered expression:lung, lymphocyte, macrophage (human)	PMID:11790661|REF_RGD_ID:4892099
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1407	anterior uveitis		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:iris, ciliary body (rat)	PMID:15790900|REF_RGD_ID:4890448
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1555	urticaria		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, haplotype: :p.S185_T195del (rs333) (human)	PMID:23727176|REF_RGD_ID:8551831
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1612	breast cancer		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:24301790|REF_RGD_ID:8551816
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:14597737|REF_RGD_ID:8551810
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1686	glaucoma		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:16159632|REF_RGD_ID:8549757
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:19155524|REF_RGD_ID:2317567
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1824	status epilepticus		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:22248156|REF_RGD_ID:8552226
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1883	hepatitis C		ISO	RGD:1351344	D	RGD:9068941	20260730	CTD		CTD Direct Evidence: marker/mechanism	
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1883	hepatitis C	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:	PMID:14673528|REF_RGD_ID:14401731
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1351344	D	RGD:7240710	20260729	OMIM			
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:16763157|REF_RGD_ID:8549763
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:1962	fallopian tube disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Chlamydia Infections;DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:16118671|REF_RGD_ID:8549760
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:59029A>G,59353C>T	PMID:17063508|REF_RGD_ID:14401727
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs1799987(human)	PMID:29239247|REF_RGD_ID:14401574
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :DNA:deletion:Cds:	PMID:27892677|REF_RGD_ID:14401575
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2316	brain ischemia		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:9670989|REF_RGD_ID:632396
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:17138939|REF_RGD_ID:4890431
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2366	West Nile fever		ISO	RGD:1351344	D	RGD:9068941	20260730	CTD		CTD Direct Evidence: marker/mechanism	
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2366	West Nile fever	susceptibility	ISO	RGD:1351344	D	RGD:7240710	20260729	OMIM			
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351344	D	RGD:9068941	20250724	RGD		DNA:frameshift mutation:CDS:p.S185_T195del (rs333) (human)	PMID:12451219|REF_RGD_ID:1358460
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351344	D	RGD:9068941	20250724	RGD		protein:increased expression:blood, cerebrospinal fluid	PMID:12111306|REF_RGD_ID:8551829
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2518	orchitis	severity	ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:22351899|REF_RGD_ID:6767571
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2841	asthma		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:20220260|REF_RGD_ID:4145638
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2841	asthma		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, lymphocyte (human)	PMID:15256090|REF_RGD_ID:4892108
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2841	asthma		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:16474097|REF_RGD_ID:4892093
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2841	asthma		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:18094012|REF_RGD_ID:4892088
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2841	asthma	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphism, frameshift mutation: :-59029G>A, p.S185_T195del (rs333) (human)	PMID:23454776|REF_RGD_ID:8551842
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, T cell (human)	PMID:16379602|REF_RGD_ID:4892094
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3021	acute kidney failure		ISO	RGD:1351344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055553
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin, lymph node (rat)	PMID:16977379|REF_RGD_ID:2325935
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3082	interstitial lung disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic; protein:increased expression:blood, T cell (human)	PMID:18383361|REF_RGD_ID:4892085
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:blood (human)	PMID:19229703|REF_RGD_ID:4892070
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3121	gallbladder cancer	onset	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:18405329|REF_RGD_ID:2317570
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1351344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:16449815|REF_RGD_ID:6893391
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3393	coronary artery disease		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:17449418|REF_RGD_ID:4890438
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3482	plague	resistance	ISO	RGD:620596	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.H184R (rat)	PMID:18703167|REF_RGD_ID:4890425
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3526	cerebral infarction		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:23602964|REF_RGD_ID:8552262
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, lymphocyte (human)	PMID:15802346|REF_RGD_ID:4892101
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:19762220|REF_RGD_ID:4145622
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneal fluid, leukocyte (human)	PMID:11948121|REF_RGD_ID:4892092
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:4166	syphilis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:18008231|REF_RGD_ID:8551830
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351344	D	RGD:9068941	20260730	CTD		CTD Direct Evidence: marker/mechanism	
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351344	D	RGD:9068941	20260730	RGD		protein:decreased expression:blood, T cell (human)	PMID:16379602|REF_RGD_ID:4892094
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:1351344	D	RGD:7240710	20260729	OMIM			
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:552	pneumonia		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		Idiopathic Pneumonia Syndrome; mRNA:increased expression:lung (mouse)	PMID:15546955|REF_RGD_ID:4892103
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple (human)	PMID:16775617|REF_RGD_ID:1626284
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:676	systemic juvenile rheumatoid arthritis	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:17565662|REF_RGD_ID:1626283
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:17565662|REF_RGD_ID:1626283
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:7148	rheumatoid arthritis	resistance	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:16541097|REF_RGD_ID:1626290
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:783	end stage renal disease		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex (rat)	PMID:19535570|REF_RGD_ID:4889989
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:8893	psoriasis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:T cell	PMID:23954573|REF_RGD_ID:8551838
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:8947	diabetic retinopathy		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22677420|REF_RGD_ID:8551828
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;mRNA:increased expression:lymph node	PMID:24301790|REF_RGD_ID:8551816
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000528	Coronary Disease	resistance	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:multiple (human)	PMID:16055130|REF_RGD_ID:1581176
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1351344	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35072892
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1351344	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35072892
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000972	Fever		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:15066130|REF_RGD_ID:2307192
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000972	Fever		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:23999490|REF_RGD_ID:8552232
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9000998	Brain Injuries		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:24344922|REF_RGD_ID:8552265
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9001488	Human Influenza		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:18617426|PMID:19039768|REF_RGD_ID:4892119|REF_RGD_ID:4892122
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9001488	Human Influenza	severity	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:20875295|REF_RGD_ID:4892063
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:19603542|REF_RGD_ID:14401743
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:19603542|REF_RGD_ID:14401743
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002056	Arterial Injury		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:22292067|REF_RGD_ID:8552233
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP: :59029G>A (human)	PMID:17428349|REF_RGD_ID:8549756
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:59029G>A (human)	PMID:12610055|REF_RGD_ID:2307107
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1351344	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35072892
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries	PMID:24589480|REF_RGD_ID:8551795
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion (rat)	PMID:18076762|REF_RGD_ID:4890034
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:22033364|PMID:23147416|REF_RGD_ID:8551809|REF_RGD_ID:8551820
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ankle (rat)	PMID:14674010|REF_RGD_ID:1582346
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:22289897|REF_RGD_ID:5687744
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002467	Mycoplasma Infections		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:cds:p.S185_T195del rs333 (human)	PMID:17445875|REF_RGD_ID:4892129
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord, macrophage, microglia (rat)	PMID:17484785|REF_RGD_ID:4890436
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1351344	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36346222
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:23490419|REF_RGD_ID:8551821
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal mucosa (human)	PMID:17982926|REF_RGD_ID:4145109
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral hemisphere (rat)	PMID:16516309|REF_RGD_ID:4890442
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:23391218|REF_RGD_ID:8551839
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:	PMID:12055576|REF_RGD_ID:14401729
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:	PMID:12873822|REF_RGD_ID:14401737
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1351344	D	RGD:9068941	20260430	RGD		protein:increased expression:kidney interstitium, leukocyte	PMID:11012889|REF_RGD_ID:645233553
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004283	Transplant Rejection		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:23498802|REF_RGD_ID:8552228
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:23446583|REF_RGD_ID:8552231
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9004545	Birth Injuries		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple organs (rat)	PMID:18554634|REF_RGD_ID:4890426
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9005175	Ulcer		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with Herpes Genitalis	PMID:18008231|REF_RGD_ID:8551830
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD			PMID:14597737|PMID:22637726|REF_RGD_ID:8551810|REF_RGD_ID:8551813
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9005372	Inflammation		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		associated with Arthritis, Experimental; protein:increased expression:synovial tissue, macrophage (rat)	PMID:16320322|REF_RGD_ID:4144893
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21575160|REF_RGD_ID:11533943
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9006741	Acute Hepatitis	disease_progression	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:16175603|REF_RGD_ID:14401740
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:620596	D	RGD:9068941	20230128	RGD			PMID:20940264|REF_RGD_ID:4889880
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:733487	D	RGD:9068941	20200609	RGD		acetaminophen	PMID:24770590|REF_RGD_ID:14401733
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, monocyte (human)	PMID:15786508|REF_RGD_ID:4892017
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9008225	Respirovirus Infections		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:17641009|REF_RGD_ID:4892127
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351344	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35072892
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9008551	Flaviviridae Infections		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with hepatitis G virus infection; protein:decreased expression: T lymphocyte:hepatitis G virus infection	PMID:12824783|REF_RGD_ID:14401734
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9008691	Liver Injury		ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:24205332|REF_RGD_ID:8552264
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9065	leishmaniasis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		associated with HIV Infections;protein:increased expression:blood, T cell	PMID:17457607|REF_RGD_ID:8551841
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9065	leishmaniasis	disease_progression	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:10553079|REF_RGD_ID:8551832
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:21180278|REF_RGD_ID:6893428
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:23632983|REF_RGD_ID:8549764
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9111	cutaneous leishmaniasis	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:17214851|REF_RGD_ID:8549765
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:24617012|REF_RGD_ID:14401738
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:17966842|REF_RGD_ID:2307064
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:620596	D	RGD:9068941	20200609	RGD			PMID:23063706|REF_RGD_ID:8552229
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, lymphocyte (human)	PMID:15526056|REF_RGD_ID:4892104
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9675	pulmonary emphysema		ISO	RGD:733487	D	RGD:9068941	20200609	RGD			PMID:17883726|REF_RGD_ID:4892090
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9675	pulmonary emphysema		ISO	RGD:733487	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:16284650|REF_RGD_ID:4892098
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, mononuclear cell	PMID:12145160|REF_RGD_ID:2317571
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:620596	D	RGD:9068941	20200609	RGD		mRNA:increased expression:splenocyte (rat)	PMID:15240727|REF_RGD_ID:4890459
12081018	CCR5	C-C motif chemokine receptor 5	gene	DOID:9744	type 1 diabetes mellitus	no_association	ISO	RGD:1351344	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation: :p.S185_T195del (rs333) (human)	PMID:23773920|REF_RGD_ID:8551818
12081032	PAK5	p21 (RAC1) activated kinase 5	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1323766	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
12081032	PAK5	p21 (RAC1) activated kinase 5	gene	DOID:1115	sarcoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081032	PAK5	p21 (RAC1) activated kinase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081032	PAK5	p21 (RAC1) activated kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081032	PAK5	p21 (RAC1) activated kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1351271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30067223
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		DNA:deletion, nonsense mutations:exon:c.326delC, p.K175X, p.R617X (human)	PMID:12843316|REF_RGD_ID:11556209
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0060747	Duane-radial ray syndrome		ISO	RGD:1351271	D	RGD:7240710	20180425	OMIM			
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0060747	Duane-radial ray syndrome		ISO	RGD:1351271	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DUANE-RADIAL RAY SYNDROME | ClinVar Annotator: match by term: Duane-radial ray syndrome | ClinVar Annotator: match by term: Okihiro Syndrome | ClinVar Annotator: match by term: SALL4-related condition | ClinVar Annotator: match by term: SALL4-related disorder	PMID:12395297|PMID:12789647|PMID:15286162|PMID:15342710|PMID:16086360|PMID:16199547|PMID:16402211|PMID:16411190|PMID:17576681|PMID:22382802|PMID:25741868|PMID:26791099|PMID:27661448|PMID:28166811|PMID:28492532|PMID:28849223|PMID:31502745|PMID:34079577|PMID:9536098
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0080074	neural tube defect		ISO	RGD:1619916	D	RGD:9068941	20200609	RGD			PMID:18818376|REF_RGD_ID:11556229
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1351271	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:25741868
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0111381	IVIC syndrome		ISO	RGD:1351271	D	RGD:7240710	20180130	OMIM			
12081052	SALL4	spalt like transcription factor 4	gene	DOID:0111381	IVIC syndrome		ISO	RGD:1351271	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IVIC syndrome | ClinVar Annotator: match by term: Oculootoradial syndrome | ClinVar Annotator: match by term: Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia	PMID:25741868|PMID:28492532
12081052	SALL4	spalt like transcription factor 4	gene	DOID:10754	otitis media		ISO	RGD:1619916	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12081052	SALL4	spalt like transcription factor 4	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1351271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACRORENOOCULAR SYNDROME | ClinVar Annotator: match by term: Acrorenoocular syndrome	PMID:25741868|PMID:28492532
12081052	SALL4	spalt like transcription factor 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30067223
12081052	SALL4	spalt like transcription factor 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.R196W, p.S797C (human)	PMID:19619907|REF_RGD_ID:11556206
12081052	SALL4	spalt like transcription factor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1351271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12081052	SALL4	spalt like transcription factor 4	gene	DOID:1911	endodermal sinus tumor		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		protein:increased expression:testis, nucleus (human)	PMID:23347651|REF_RGD_ID:11557983
12081052	SALL4	spalt like transcription factor 4	gene	DOID:2156	ovarian germ cell cancer		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		protein:increased expression:female gonad (human)	PMID:19295406|REF_RGD_ID:11556233
12081052	SALL4	spalt like transcription factor 4	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1351271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30431698
12081052	SALL4	spalt like transcription factor 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12081052	SALL4	spalt like transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081052	SALL4	spalt like transcription factor 4	gene	DOID:630	genetic disease		ISO	RGD:1351271	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12081052	SALL4	spalt like transcription factor 4	gene	DOID:687	hepatoblastoma		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		Embryonal Hepatoblastoma;protein:increased expression:liver (human)	PMID:23822878|REF_RGD_ID:11556217
12081052	SALL4	spalt like transcription factor 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351271	D	RGD:9068941	20200609	RGD		protein:increased expression:testis (human)	PMID:19390421|REF_RGD_ID:11556205
12081052	SALL4	spalt like transcription factor 4	gene	DOID:9004994	Embryo Loss		ISO	RGD:1619916	D	RGD:9068941	20221103	RGD			PMID:16790473|REF_RGD_ID:155631313
12081052	SALL4	spalt like transcription factor 4	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1351271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30067223
12081052	SALL4	spalt like transcription factor 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16402211
12081052	SALL4	spalt like transcription factor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:3307	teratoma		ISO	RGD:1317846	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081060	ETNK1	ethanolamine kinase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:1115	sarcoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:3070	high grade glioma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12081077	IGSF11	immunoglobulin superfamily member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081111	ZNF148	zinc finger protein 148	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
12081111	ZNF148	zinc finger protein 148	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732332	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12081111	ZNF148	zinc finger protein 148	gene	DOID:0060058	lymphoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:0060260	ptosis		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:27964749
12081111	ZNF148	zinc finger protein 148	gene	DOID:1115	sarcoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:11836	clubfoot		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12081111	ZNF148	zinc finger protein 148	gene	DOID:3275	thymoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:4362	cervical cancer		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081111	ZNF148	zinc finger protein 148	gene	DOID:5041	esophageal cancer		ISO	RGD:732332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081111	ZNF148	zinc finger protein 148	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:630	genetic disease		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27964749
12081111	ZNF148	zinc finger protein 148	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081111	ZNF148	zinc finger protein 148	gene	DOID:9005641	GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES		ISO	RGD:732332	D	RGD:7240710	20190315	OMIM			
12081111	ZNF148	zinc finger protein 148	gene	DOID:9005641	GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies | ClinVar Annotator: match by term: ZNF148-related condition	PMID:12840224|PMID:25741868|PMID:27964749|PMID:36444493
12081111	ZNF148	zinc finger protein 148	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081111	ZNF148	zinc finger protein 148	gene	DOID:9008189	Pyelectasis		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868
12081111	ZNF148	zinc finger protein 148	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:1115	sarcoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:1324	lung cancer		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348776	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081128	TRIM16	tripartite motif containing 16	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1348776	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35442568
12081138	HS3ST4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081138	HS3ST4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081138	HS3ST4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081138	HS3ST4	heparan sulfate-glucosamine 3-sulfotransferase 4	gene	DOID:670	amphetamine abuse		ISO	RGD:1352921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:0110989	Joubert syndrome 20		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 20	PMID:25741868
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:7240710	20180130	OMIM			
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:0111116	nephronophthisis 7		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLIS2-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 7 | ClinVar Annotator: match by term: Nephronophthisis 7	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:25741868|PMID:28492532|PMID:34917135
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:3070	high grade glioma		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:557	kidney disease		ISO	RGD:1345602	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17618285
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:783	end stage renal disease		ISO	RGD:1345602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081145	GLIS2	GLIS family zinc finger 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1345602	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		protein:increased expression:alveolar epithelial cell, fibroblast	PMID:24081992|REF_RGD_ID:713963044
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:0051062	ischemic stroke		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:increased expression:cerebral cortex:	PMID:30676545|REF_RGD_ID:151347693
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:increased expression: sciatic nerve and dorsal root ganglion	PMID:34281158|REF_RGD_ID:730468924
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:2841	asthma		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:26999524|REF_RGD_ID:713699936
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:2841	asthma		ISO	RGD:621078	D	RGD:9068941	20260611	RGD		protein:lung:increased expression:	PMID:28972901|REF_RGD_ID:730468916
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:2841	asthma	ameliorates	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:18757241|REF_RGD_ID:730466410
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:1352132	D	RGD:9068941	20260514	RGD			PMID:29413340|REF_RGD_ID:713683814
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		mRNA,protein:increased expression:nasal cavity mucosa, dendritic cell	PMID:20924287|REF_RGD_ID:713956260
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9002801	Recurrence		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22904298
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD			PMID:38593508|REF_RGD_ID:730466411
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9004610	Acute Lung Injury	ameliorates	ISO	RGD:1618389	D	RGD:9068941	20260604	RGD			PMID:26617780|REF_RGD_ID:11538612
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1352132	D	RGD:9068941	20260514	RGD		protein:increased expression:nasal cavity mucosa , epithelium	PMID:21978707|REF_RGD_ID:713693483
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9009382	eosinophilic chronic rhinosinusitis		ISO	RGD:1352132	D	RGD:9068941	20260604	RGD		associated with chronic rhinosinusitis with nasal polyps;mRNA,protein:increased expression:mucosa of ethmoidal sinus, epithelial cell, lamina propria	PMID:26095319|REF_RGD_ID:11085923
12081160	CRLF2	cytokine receptor like factor 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1352132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838194
12081172	IFIT3	interferon induced protein with tetratricopeptide repeats 3	gene	DOID:0080600	COVID-19		ISO	RGD:1353716	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12081172	IFIT3	interferon induced protein with tetratricopeptide repeats 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1353716	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12081172	IFIT3	interferon induced protein with tetratricopeptide repeats 3	gene	DOID:9001488	Human Influenza		ISO	RGD:1353716	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12081172	IFIT3	interferon induced protein with tetratricopeptide repeats 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1353716	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351629	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1551869	D	RGD:9068941	20200609	RGD			PMID:12351651|REF_RGD_ID:1331842
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14617031
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:12987	agranulocytosis		ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		associated with schizophrenia;DNA:SNPs:exons, intron:multiple	PMID:14617031|REF_RGD_ID:11073696
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1324	lung cancer		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		DNA:deletion:promoter: (human)	PMID:18314446|REF_RGD_ID:11073691
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1351629	D	RGD:7240710	20230505	OMIM			
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351629	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1351629	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1143684 (human)	PMID:21351093|REF_RGD_ID:11073689
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:4961	bone marrow disease		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12351651
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9002514	Neointima		ISO	RGD:1303320	D	RGD:9068941	20200609	RGD			PMID:22508052|REF_RGD_ID:11073699
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9004237	Hyperoxic Lung Injury		ISO	RGD:10473	D	RGD:9068941	20200609	RGD			PMID:16678022|REF_RGD_ID:10769360
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20861374
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12081178	NQO2	N-ribosyldihydronicotinamide:quinone dehydrogenase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081190	GAS7	growth arrest specific 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081190	GAS7	growth arrest specific 7	gene	DOID:10534	stomach cancer		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081190	GAS7	growth arrest specific 7	gene	DOID:1324	lung cancer		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081190	GAS7	growth arrest specific 7	gene	DOID:1909	melanoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081190	GAS7	growth arrest specific 7	gene	DOID:3275	thymoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081190	GAS7	growth arrest specific 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081190	GAS7	growth arrest specific 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081190	GAS7	growth arrest specific 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081190	GAS7	growth arrest specific 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081190	GAS7	growth arrest specific 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081190	GAS7	growth arrest specific 7	gene	DOID:9970	obesity		ISO	RGD:1349821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270708
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short ribs	PMID:25741868|PMID:28492532|PMID:33875766
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1342513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	PMID:10700184|PMID:17024374|PMID:17576681|PMID:23220543|PMID:25741868|PMID:28492532|PMID:31028937|PMID:9536098
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868|PMID:28492532|PMID:33875766
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1342513	D	RGD:7240710	20180130	OMIM			
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1342513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: EVC-related disorder | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS	PMID:10700184|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18947413|PMID:19251731|PMID:19763152|PMID:19810119|PMID:20307669|PMID:22406018|PMID:23220543|PMID:23924873|PMID:25046119|PMID:25174843|PMID:25492405|PMID:25640679|PMID:25741868|PMID:26621368|PMID:26625674|PMID:26748586|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29321360|PMID:31028937|PMID:33452237|PMID:33875766|PMID:34006472|PMID:40967557|PMID:9536098
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:1148	polydactyly		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532|PMID:33875766
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1342513	D	RGD:7240710	20180130	OMIM			
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1342513	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia | ClinVar Annotator: match by term: ELLIS-VAN CREVELD SYNDROME | ClinVar Annotator: match by term: Ellis Van Creveld syndrome | ClinVar Annotator: match by term: Ellis van Creveld syndrome | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar Annotator: match by term: Mesoectodermal dysplasia	PMID:10700184|PMID:16199547|PMID:17024374|PMID:17576681|PMID:18454448|PMID:18947413|PMID:19251731|PMID:19744229|PMID:19810119|PMID:20184732|PMID:22190900|PMID:23220543|PMID:23924873|PMID:25492405|PMID:25741868|PMID:26621368|PMID:27453244|PMID:28253570|PMID:28492532|PMID:28854412|PMID:29068549|PMID:29229899|PMID:29321360|PMID:30805457|PMID:31028937|PMID:31319225|PMID:31338997|PMID:32055034|PMID:33452237|PMID:33502061|PMID:33875766|PMID:34645488|PMID:34930662|PMID:35927022|PMID:38531627|PMID:39490293|PMID:39663844|PMID:40967557|PMID:9536098
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:17576681|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29321360|PMID:9536098
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:17576681|PMID:23220543|PMID:25741868|PMID:28492532|PMID:29321360|PMID:9536098
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532|PMID:33875766
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081225	EVC	EvC ciliary complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081252	MEX3D	mex-3 RNA binding family member D	gene	DOID:1324	lung cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081252	MEX3D	mex-3 RNA binding family member D	gene	DOID:4362	cervical cancer		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081252	MEX3D	mex-3 RNA binding family member D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081252	MEX3D	mex-3 RNA binding family member D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081262	WFDC10B	WAP four-disulfide core domain 10B	gene	DOID:1115	sarcoma		ISO	RGD:1343114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081262	WFDC10B	WAP four-disulfide core domain 10B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081289	CCNP	cyclin P	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081289	CCNP	cyclin P	gene	DOID:10534	stomach cancer		ISO	RGD:1602462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081289	CCNP	cyclin P	gene	DOID:1324	lung cancer		ISO	RGD:1602462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081289	CCNP	cyclin P	gene	DOID:3275	thymoma		ISO	RGD:1602462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081335	PCDH10	protocadherin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081335	PCDH10	protocadherin 10	gene	DOID:12849	autistic disorder		ISO	RGD:1348202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621663
12081335	PCDH10	protocadherin 10	gene	DOID:1324	lung cancer		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081335	PCDH10	protocadherin 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081335	PCDH10	protocadherin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081335	PCDH10	protocadherin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081363	DAPK3	death associated protein kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081363	DAPK3	death associated protein kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:731385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081363	DAPK3	death associated protein kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731385	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081363	DAPK3	death associated protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081363	DAPK3	death associated protein kinase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:731385	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa	PMID:28041643
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081376	ITPRID2	ITPR interacting domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081408	TOB2	transducer of ERBB2, 2	gene	DOID:1115	sarcoma		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081408	TOB2	transducer of ERBB2, 2	gene	DOID:12306	vitiligo		ISO	RGD:1342508	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
12081408	TOB2	transducer of ERBB2, 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081408	TOB2	transducer of ERBB2, 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:3500	gallbladder adenocarcinoma	disease_progression	ISO	RGD:1316889	D	RGD:9068941	20210924	RGD			PMID:29043607|REF_RGD_ID:150429712
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316889	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:5627	adenosquamous gallbladder carcinoma	disease_progression	ISO	RGD:1316889	D	RGD:9068941	20210924	RGD			PMID:29043607|REF_RGD_ID:150429712
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081416	LOC483397	interferon-induced transmembrane protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316889	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:0080600	COVID-19		ISO	RGD:1346554	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:10534	stomach cancer		ISO	RGD:1346554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:1240	leukemia		ISO	RGD:1346554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17379067
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:14330	Parkinson's disease		ISO	RGD:1346554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17005863
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:403	mouth disease		ISO	RGD:1346554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1346554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17005863
12081422	DDIT4	DNA damage inducible transcript 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081429	TMEM116	transmembrane protein 116	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081429	TMEM116	transmembrane protein 116	gene	DOID:1115	sarcoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081429	TMEM116	transmembrane protein 116	gene	DOID:1909	melanoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081429	TMEM116	transmembrane protein 116	gene	DOID:4362	cervical cancer		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081429	TMEM116	transmembrane protein 116	gene	DOID:5041	esophageal cancer		ISO	RGD:1603287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081429	TMEM116	transmembrane protein 116	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081429	TMEM116	transmembrane protein 116	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081429	TMEM116	transmembrane protein 116	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081456	LIMD1	LIM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081456	LIMD1	LIM domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081456	LIMD1	LIM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081456	LIMD1	LIM domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12081456	LIMD1	LIM domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081456	LIMD1	LIM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081456	LIMD1	LIM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:0060058	lymphoma		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754746
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:735513	D	RGD:9068941	20220217	RGD			PMID:32015322|REF_RGD_ID:151356909
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:0080600	COVID-19		ISO	RGD:735512	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:10534	stomach cancer		ISO	RGD:735512	D	RGD:9068941	20220224	RGD		protein:increased expression:stomach (human)	PMID:28274596|REF_RGD_ID:151356999
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:10534	stomach cancer	severity	ISO	RGD:735512	D	RGD:9068941	20220224	RGD		protein:increased expression:stomach (human)	PMID:25482013|PMID:25672320|REF_RGD_ID:151356929|REF_RGD_ID:151356982
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:1115	sarcoma		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15217956
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:1324	lung cancer		ISO	RGD:735512	D	RGD:9068941	20220217	RGD		protein:increased expression:lung (human)	PMID:28776569|REF_RGD_ID:151356930
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:1324	lung cancer		ISO	RGD:735512	D	RGD:9068941	20220224	RGD		DNA:SNP:promoter:-190indel, -235C>A, (rs3831987,rs3738484)	PMID:21887682|REF_RGD_ID:151356991
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		human cells in mouse model	PMID:31662324|REF_RGD_ID:151356915
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		human cells in mouse model	PMID:29899555|REF_RGD_ID:151356919
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735512	D	RGD:9068941	20220217	RGD		protein:increased expression:lung, cytoplasm (human)	PMID:24469836|REF_RGD_ID:151356906
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:735512	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:32276600|REF_RGD_ID:151357000
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		DNA:mutations:multiple	PMID:27264345|REF_RGD_ID:151356758
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		protein:increased expression:lung, cytoplasm (human)	PMID:29567880|REF_RGD_ID:151356750
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		protein:increased expression:lung (human)	PMID:31662324|PMID:32945371|REF_RGD_ID:151356915|REF_RGD_ID:151356931
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		mRNA:increased expression:lung (human)	PMID:31200834|REF_RGD_ID:151356911
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		human cells in mouse model	PMID:31200834|REF_RGD_ID:151356911
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:4362	cervical cancer		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9002189	High Myopia		ISO	RGD:735512	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:735513	D	RGD:9068941	20220217	RGD			PMID:32179094|REF_RGD_ID:151356755
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19903766|PMID:27935865
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9065	leishmaniasis		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670606
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9206	Barrett's esophagus		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127259
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:735512	D	RGD:9068941	20220210	RGD		DNA:SNP:promoter: (rs9803935) (human)	PMID:32619164|REF_RGD_ID:151356738
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:735512	D	RGD:9068941	20220217	RGD		mRNA,protein:increased expression:colon (human)	PMID:29899555|REF_RGD_ID:151356919
12081468	MCL1	MCL1 apoptosis regulator, BCL2 family member	gene	DOID:9538	multiple myeloma		ISO	RGD:735512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12429644
12081475	LOC474964	heterogeneous nuclear ribonucleoprotein C	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:1603848	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mayer-Rokitansky-Kuster-Hauser syndrome	PMID:25741868
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0110238	cataract 18		ISO	RGD:1319203	D	RGD:7240710	20180130	OMIM			
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:0110238	cataract 18		ISO	RGD:1319203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CATARACT 18, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2 | ClinVar Annotator: match by term: FYCO1-related condition	PMID:16199547|PMID:21636066|PMID:25741868|PMID:27878435|PMID:28418495|PMID:28492532|PMID:32355443|PMID:33767456
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:630	genetic disease		ISO	RGD:1319203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1319203	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:21636066|PMID:25741868|PMID:28492532|PMID:35754085
12081481	FYCO1	FYVE and coiled-coil domain autophagy adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:22459801|REF_RGD_ID:6892954
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17020408|PMID:19818716|PMID:27478040|PMID:29812969|PMID:30150714|PMID:33173725|PMID:35101336
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:161	keratosis		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:2237	hepatitis		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:733529	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (mouse)	PMID:21075092|REF_RGD_ID:6893270
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		protein:increased expression:hyperplastic lung epithelium, alveolus (human)	PMID:20718723|REF_RGD_ID:6893300
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1605110	D	RGD:9068941	20260430	RGD		DNA:SNP: :c.1413C>G (rs1048290)	PMID:30641209|REF_RGD_ID:645238739
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:3121	gallbladder cancer		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		DNA:missense mutations, frameshift mutations:cds:multiple (human)	PMID:18692501|REF_RGD_ID:6893398
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		mRNA:increased expression:primary motor cortex (human)	PMID:18957896|REF_RGD_ID:6893397
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22684020
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papillary thyroid carcinoma	PMID:24138990|PMID:25417114|PMID:27993330|PMID:29469959|PMID:31428048
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:621619	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney cortex (rat)	PMID:20734248|REF_RGD_ID:5133246
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:783	end stage renal disease		ISO	RGD:621619	D	RGD:9068941	20200609	RGD		protein:increased expression:renal cortex, cytosol (rat)	PMID:20007347|REF_RGD_ID:6892947
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:621619	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:increased expression:retina	PMID:23633659|REF_RGD_ID:10412733
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18692501
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20124447
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:621619	D	RGD:9068941	20200609	RGD			PMID:21439372|REF_RGD_ID:6893386
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052|PMID:29610475
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621619	D	RGD:9068941	20200609	RGD		protein:decreased expression:left coronary artery (rat)	PMID:18078953|REF_RGD_ID:6902919
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733529	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, neuron, cytoplasm (mouse)	PMID:21075092|REF_RGD_ID:6893270
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9004484	Sepsis		ISO	RGD:733529	D	RGD:9068941	20200609	RGD			PMID:21799073|REF_RGD_ID:6892955
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1605110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:733529	D	RGD:9068941	20200609	RGD			PMID:22609006|REF_RGD_ID:6892951
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733529	D	RGD:9068941	20200609	RGD			PMID:18417483|REF_RGD_ID:6893370
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:22459801|REF_RGD_ID:6892954
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:733529	D	RGD:9068941	20200609	RGD			PMID:22367278|REF_RGD_ID:6893372
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1605110	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (human)	PMID:18559366|REF_RGD_ID:5134973
12081512	KEAP1	kelch like ECH associated protein 1	gene	DOID:9675	pulmonary emphysema	onset	ISO	RGD:733529	D	RGD:9068941	20200609	RGD			PMID:19520915|REF_RGD_ID:6893395
12081525	OXSM	3-oxoacyl-ACP synthase, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1603026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081525	OXSM	3-oxoacyl-ACP synthase, mitochondrial	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1603026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0060249	scoliosis		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:734151	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0080467	developmental and epileptic encephalopathy 2		ISO	RGD:734151	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2	PMID:25741868
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0110683	developmental and epileptic encephalopathy 117		ISO	RGD:734151	D	RGD:7240710	20180130	OMIM			
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0110683	developmental and epileptic encephalopathy 117		ISO	RGD:734151	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 117 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA	PMID:15044754|PMID:15834421|PMID:17576681|PMID:25381298|PMID:25741868|PMID:28492532|PMID:29100083|PMID:29257047|PMID:29355968|PMID:29491473|PMID:31785789|PMID:33147442|PMID:33299146|PMID:37066095|PMID:9536098
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:33057194|PMID:33299146|PMID:35982159
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1059	intellectual disability		ISO	RGD:734151	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:734152	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:11836	clubfoot		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1324	lung cancer		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:14250	Down syndrome		ISO	RGD:734151	D	RGD:9068941	20200609	RGD			PMID:12499044|REF_RGD_ID:1579958
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1596	depressive disorder		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1826	epilepsy		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1827	generalized epilepsy		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1909	melanoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:1969	cerebral palsy		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:2234	focal epilepsy		ISO	RGD:734151	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal epilepsy	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:2468	psychotic disorder		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:3312	bipolar disorder		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:734151	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:480	movement disease		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:5419	schizophrenia		ISO	RGD:734152	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:630	genetic disease		ISO	RGD:734151	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31785789|PMID:33147442|PMID:33299146|PMID:37066095
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy with generalized tonic-clonic seizures	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9000165	Neuromuscular Manifestations		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17023870
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9003133	Hypertelorism		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9003591	Telecanthus		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734151	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:15044754|PMID:15834421|PMID:25381298|PMID:25741868|PMID:33147442|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9005077	Joint Instability		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral Hypotonia	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9007892	Tics		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17023870
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734151	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734152	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:936	brain disease		ISO	RGD:734151	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:33299146
12081542	SNAP25	synaptosome associated protein 25	gene	DOID:9970	obesity		ISO	RGD:734152	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
12081558	NEBL	nebulette	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12081558	NEBL	nebulette	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081558	NEBL	nebulette	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1318016	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:28416822
12081558	NEBL	nebulette	gene	DOID:0060319	cardiac arrest		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cardiac arrest	PMID:25741868|PMID:25987543|PMID:28492532
12081558	NEBL	nebulette	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	
12081558	NEBL	nebulette	gene	DOID:0110308	hypertrophic cardiomyopathy 2		ISO	RGD:1318016	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2	
12081558	NEBL	nebulette	gene	DOID:10534	stomach cancer		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
12081558	NEBL	nebulette	gene	DOID:1115	sarcoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081558	NEBL	nebulette	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:28492532
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:27186169|PMID:28166811|PMID:28492532|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29915097|PMID:30206291|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:16783378|PMID:17576681|PMID:20301718|PMID:20951326|PMID:21735565|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11140941|PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:29247119|PMID:29544605|PMID:29915097|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:33762593|PMID:36303204|PMID:36788754|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:20951326|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:29961767|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:36303204|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:20951326|PMID:23632046|PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:28492532|PMID:29247119|PMID:29544605|PMID:29915097|PMID:29961767|PMID:30165862|PMID:30206291|PMID:31737537|PMID:32746448|PMID:36303204|PMID:9536098
12081558	NEBL	nebulette	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1318016	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.N654K (human)	PMID:11140941|REF_RGD_ID:1581084
12081558	NEBL	nebulette	gene	DOID:1324	lung cancer		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12081558	NEBL	nebulette	gene	DOID:3275	thymoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081558	NEBL	nebulette	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318016	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
12081558	NEBL	nebulette	gene	DOID:4362	cervical cancer		ISO	RGD:1318016	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081558	NEBL	nebulette	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081558	NEBL	nebulette	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868
12081558	NEBL	nebulette	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12081558	NEBL	nebulette	gene	DOID:9007820	Sudden Death		ISO	RGD:1318016	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death | ClinVar Annotator: match by term: sudden unexplained death	PMID:24033266|PMID:25741868|PMID:25987543|PMID:27186169|PMID:27662471|PMID:28492532|PMID:28750076|PMID:33762593
12081558	NEBL	nebulette	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081558	NEBL	nebulette	gene	DOID:9256	colorectal cancer		ISO	RGD:1318016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:0060058	lymphoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:10534	stomach cancer		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:1115	sarcoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:1909	melanoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:4362	cervical cancer		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081611	TIMM17A	translocase of inner mitochondrial membrane 17A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081624	APOBEC2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081624	APOBEC2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081624	APOBEC2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081624	APOBEC2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081624	APOBEC2	apolipoprotein B mRNA editing enzyme catalytic subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3704	D	RGD:9068941	20250501	RGD			PMID:21422004|REF_RGD_ID:598154603
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:737272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:11305	D	RGD:9068941	20200609	RGD			PMID:19918242|REF_RGD_ID:12879501
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0060260	ptosis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:21832227|PMID:25741868|PMID:26193382|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs710218, rs2229682 (human)	PMID:23427181|REF_RGD_ID:12879498
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:deletion:intron:rs35565219 (human)	PMID:21135204|REF_RGD_ID:11070819
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0060737	junctional epidermolysis bullosa Herlitz type		ISO	RGD:737272	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Herlitz-type junctional epidermolysis bullosa	PMID:20129935|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28492532|PMID:29655203|PMID:34135856
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23280796|PMID:23448551|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532|PMID:28717674
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0070560	glucose transporter type 1 deficiency syndrome		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLUT1 deficiency syndrome | ClinVar Annotator: match by term: Glucose transporter protein syndrome	PMID:10980529|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:19237265|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20417043|PMID:20574033|PMID:20621801|PMID:21069159|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25099510|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28135719|PMID:28419980|PMID:28492532|PMID:28556183|PMID:28961260|PMID:29356177|PMID:29655203|PMID:30076047|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31737037|PMID:32404902|PMID:32802945|PMID:34279792|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:37335529|PMID:38041506|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9335548|PMID:9374494|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0070561	glucose transporter type 1 deficiency syndrome 1		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0070561	glucose transporter type 1 deficiency syndrome 1		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: De Vivo disease | ClinVar Annotator: match by term: Encephalopathy due to GLUT1 deficiency | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 1 | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 1, autosomal recessive	PMID:10196171|PMID:10980529|PMID:11076005|PMID:11425315|PMID:11477212|PMID:12325075|PMID:15622525|PMID:16172126|PMID:16199547|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18387950|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18577546|PMID:19237265|PMID:19304421|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20221955|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20687207|PMID:20830593|PMID:21069159|PMID:21204808|PMID:21530357|PMID:21546317|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:21937992|PMID:22011817|PMID:22190371|PMID:22282645|PMID:22622956|PMID:22704013|PMID:22814174|PMID:22976442|PMID:23020937|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23801573|PMID:24080273|PMID:24215330|PMID:24487825|PMID:24824604|PMID:24847886|PMID:25022942|PMID:25099510|PMID:25108116|PMID:25167861|PMID:25381171|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27098784|PMID:27250207|PMID:27351150|PMID:27927575|PMID:28018440|PMID:28042592|PMID:28074849|PMID:28116237|PMID:28135719|PMID:28378819|PMID:28419980|PMID:28443597|PMID:28492532|PMID:28554332|PMID:28556183|PMID:28717674|PMID:28961260|PMID:29223885|PMID:29356177|PMID:29655203|PMID:29778030|PMID:30115503|PMID:30197081|PMID:30198221|PMID:30271476|PMID:30588498|PMID:30616884|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31273778|PMID:31302675|PMID:31440721|PMID:31487502|PMID:31690835|PMID:31737037|PMID:31769253|PMID:32005694|PMID:32134591|PMID:32404902|PMID:32753446|PMID:32802945|PMID:32901917|PMID:33258288|PMID:33860439|PMID:34279792|PMID:34305802|PMID:34568804|PMID:34880899|PMID:35388452|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36403551|PMID:36965413|PMID:37273706|PMID:37293674|PMID:37335529|PMID:38041506|PMID:38458754|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9335548|PMID:9374494|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0090044	dystonia 9		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0090044	dystonia 9		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOREOATHETOSIS, KINESIGENIC, WITH EPISODIC ATAXIA AND SPASTICITY | ClinVar Annotator: match by term: Dystonia 9	PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:17576681|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22622956|PMID:22704013|PMID:22976442|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25741868|PMID:25914049|PMID:26193382|PMID:26467025|PMID:26598494|PMID:26982753|PMID:28018440|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:29655203|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31737037|PMID:32404902|PMID:32901917|PMID:34279792|PMID:36088537|PMID:36153584|PMID:36362347|PMID:37293674|PMID:37335529|PMID:38041506|PMID:9335548|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0090045	glucose transporter type 1 deficiency syndrome 2		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Childhood onset GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME 2 | ClinVar Annotator: match by term: GLUT1 deficiency syndrome 2 | ClinVar Annotator: match by term: PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA | ClinVar Annotator: match by term: Paroxysmal exercise-induced dystonia	PMID:10227690|PMID:10980529|PMID:11477212|PMID:15622525|PMID:16949238|PMID:17052934|PMID:17576681|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19996082|PMID:20129935|PMID:20417043|PMID:20621801|PMID:21069159|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23306390|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24487825|PMID:24847886|PMID:24892788|PMID:25022942|PMID:25108116|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25758715|PMID:25914049|PMID:26193382|PMID:26467025|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28042592|PMID:28116237|PMID:28407523|PMID:28419980|PMID:28492532|PMID:28961260|PMID:28971506|PMID:29223885|PMID:30271476|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31196579|PMID:31302675|PMID:31605543|PMID:31737037|PMID:32404902|PMID:32753446|PMID:34305802|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38041506|PMID:38914025|PMID:40243517|PMID:8027028|PMID:9374494|PMID:9462754|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:25741868
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10975929|REF_RGD_ID:12879497
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18606970|PMID:19630075|PMID:20301603|PMID:25167861|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532|PMID:32581362
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:10980529|PMID:18606970|PMID:19630075|PMID:20129935|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25564316|PMID:25741868|PMID:26216499|PMID:26598494|PMID:28492532|PMID:32581362
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency	PMID:10980529|PMID:16385454|PMID:18606970|PMID:19630075|PMID:20301500|PMID:20301603|PMID:25167861|PMID:25326635|PMID:25741868|PMID:28492532|PMID:32581362
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18614966|PMID:19996082|PMID:20129935|PMID:20630673|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:24847886|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29930392|PMID:30271476|PMID:31196579|PMID:31302675|PMID:32581362|PMID:32901917|PMID:33015236|PMID:36362347|PMID:40243517
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:15622525|PMID:16217704|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19996082|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:30271476|PMID:31196579|PMID:31302675|PMID:32581362|PMID:32901917|PMID:40243517
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18606970|PMID:19630075|PMID:19996082|PMID:20129935|PMID:20301603|PMID:20417043|PMID:21069159|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22190371|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25167861|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:30271476|PMID:31196579|PMID:31302675|PMID:32581362|PMID:32901917|PMID:36965413|PMID:40048124|PMID:40243517
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737272	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:chorionic villus (human)	PMID:22840297|REF_RGD_ID:155631283
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:8179300|REF_RGD_ID:2313620
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10754	otitis media		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10763	hypertension		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus	PMID:12771048|REF_RGD_ID:12879474
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10907	microcephaly		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:10980529|PMID:19630075|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22976442|PMID:23280796|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28492532|PMID:28717674|PMID:32581362|PMID:37095367|PMID:37538428
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10908	hydrocephalus		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:15622525|PMID:16217704|PMID:18414213|PMID:23340081|PMID:25741868|PMID:28116237|PMID:28492532|PMID:28961260|PMID:32901917
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18403583|PMID:18451999|PMID:19996082|PMID:20129935|PMID:22190371|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25741868|PMID:28492532|PMID:31196579|PMID:40243517
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:10965	spastic diplegia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:21832227|PMID:25741868|PMID:26193382|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:11155	hypohidrosis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:11830	myopia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:737272	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10980529|PMID:11603379|PMID:9462754
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:12849	autistic disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:16581179|REF_RGD_ID:12879481
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737272	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1825	childhood absence epilepsy	onset	ISO	RGD:737272	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutations, SNP:multiple	PMID:26537434|REF_RGD_ID:11058811
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizure disorder	PMID:10980529|PMID:16217704|PMID:18403583|PMID:19996082|PMID:20129935|PMID:21832227|PMID:22622956|PMID:23106342|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25326635|PMID:25741868|PMID:26193382|PMID:26216499|PMID:26982753|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:15132717|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:18614966|PMID:19996082|PMID:20129935|PMID:20621801|PMID:20630673|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22622956|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:23740044|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26598494|PMID:26982753|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29223885|PMID:29930392|PMID:30895386|PMID:31196579|PMID:32901917|PMID:33015236|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38914025|PMID:40243517|PMID:8027028|PMID:9374494
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11076005|PMID:15132717|PMID:15622525|PMID:16217704|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20621801|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22622956|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25982116|PMID:26193382|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29223885|PMID:30895386|PMID:31196579|PMID:32901917|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9374494
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1826	epilepsy		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11076005|PMID:15132717|PMID:15622525|PMID:16217704|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19996082|PMID:20129935|PMID:20621801|PMID:21530357|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22622956|PMID:22976442|PMID:23106342|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25487684|PMID:25564316|PMID:25741868|PMID:26193382|PMID:26615598|PMID:26982753|PMID:27250207|PMID:27351150|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:29223885|PMID:30895386|PMID:31196579|PMID:32901917|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38914025|PMID:40243517|PMID:8027028|PMID:9374494
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:2154	nephroblastoma	severity	ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:22483234|REF_RGD_ID:12879482
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:15622525|PMID:18451999|PMID:20129935|PMID:20221955|PMID:20687207|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:255	hemangioma		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10665907|REF_RGD_ID:12879499
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:2841	asthma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:9419067|REF_RGD_ID:12879855
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:423	myopathy		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7921415
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:480	movement disease		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:540	strabismus		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:15622525|PMID:18451999|PMID:20129935|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:27250207|PMID:28018440|PMID:28492532|PMID:30271476|PMID:31302675
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:543	dystonia		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: Paroxysmal dystonia	PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:630	genetic disease		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10980529|PMID:11477212|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18403583|PMID:18414213|PMID:18451999|PMID:19630075|PMID:19798636|PMID:19996082|PMID:20129935|PMID:20417043|PMID:20574033|PMID:20621801|PMID:20830593|PMID:21069159|PMID:21530357|PMID:21555602|PMID:21649651|PMID:21832227|PMID:21865127|PMID:22011817|PMID:22190371|PMID:22704013|PMID:22976442|PMID:23106342|PMID:23280796|PMID:23340081|PMID:2344855|PMID:23448551|PMID:24847886|PMID:25022942|PMID:25099510|PMID:25487684|PMID:25564316|PMID:25741868|PMID:25914049|PMID:25982116|PMID:26193382|PMID:26467025|PMID:26598494|PMID:26615598|PMID:26982753|PMID:27078104|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:30714351|PMID:30895386|PMID:31196579|PMID:31737037|PMID:32404902|PMID:33446253|PMID:36088537|PMID:36153584|PMID:36362347|PMID:36403551|PMID:37293674|PMID:38458754|PMID:38914025|PMID:39092009|PMID:40243517|PMID:8027028|PMID:9374494|PMID:9462754
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:6364	migraine		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23452774
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:674	cleft palate		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8364915
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:83	cataract		ISO	RGD:70495	D	RGD:9068941	20200609	RGD			PMID:11222509|REF_RGD_ID:12801446
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:8398	osteoarthritis		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18973239
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:863	nervous system disease		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23452774
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:8927	learning disability		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9000495	Tremor		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:15622525|PMID:18451999|PMID:20129935|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9000727	Syncope		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9001031	Retrognathia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002035	Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002035	Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS | ClinVar Annotator: match by term: STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS | ClinVar Annotator: match by term: Stomatin-deficient cryohydrocytosis with neurologic defects	PMID:10980529|PMID:11477212|PMID:16949238|PMID:17052934|PMID:17576681|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:21832227|PMID:22011817|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25741868|PMID:25914049|PMID:26193382|PMID:26467025|PMID:26598494|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28961260|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31737037|PMID:32404902|PMID:36088537|PMID:36153584|PMID:36362347|PMID:37293674|PMID:38041506|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:15745834|REF_RGD_ID:2312305
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737272	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP:exon:g.20882C>T (human)	PMID:26337659|REF_RGD_ID:12879466
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22707888|REF_RGD_ID:12879861
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:9886959|REF_RGD_ID:12879480
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		protein:increased expression:placenta	PMID:11738800|REF_RGD_ID:730192
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:15622525|PMID:18451999|PMID:20129935|PMID:25741868|PMID:26193382|PMID:28492532|PMID:30271476|PMID:31302675
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20138251
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9003760	Myalgia		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:19781384|REF_RGD_ID:2313601
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3704	D	RGD:9068941	20250501	RGD		protein:increased expression:brain, prefrontal cortex, nucleus accumbens (rat)	PMID:26821293|REF_RGD_ID:598150317
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9004866	Ataxia		ISO	RGD:737272	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:11603379
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737272	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21555602|PMID:21865127|PMID:22704013|PMID:22976442|PMID:25487684|PMID:25741868|PMID:26193382|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3704	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain	PMID:17935675|REF_RGD_ID:2313617
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:8345816|REF_RGD_ID:12879858
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:11305	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26943884
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11953883
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23280796|PMID:25741868|PMID:28492532|PMID:28717674
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9007736	Vertigo		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3704	D	RGD:9068941	20200609	RGD			PMID:10336852|REF_RGD_ID:12879857
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10980529|PMID:11477212|PMID:15622525|PMID:16217704|PMID:16949238|PMID:17052934|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20417043|PMID:21069159|PMID:21555602|PMID:21832227|PMID:21865127|PMID:22976442|PMID:23340081|PMID:23448551|PMID:25487684|PMID:25741868|PMID:26193382|PMID:26598494|PMID:27250207|PMID:28018440|PMID:28116237|PMID:28492532|PMID:28961260|PMID:32901917
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20526721
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008421	Epistaxis		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:737272	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:19630075|PMID:25564316|PMID:25741868|PMID:26598494|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:17554865|REF_RGD_ID:12879502
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20197467
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:15622525|PMID:16217704|PMID:18414213|PMID:23340081|PMID:25741868|PMID:28116237|PMID:28492532|PMID:28961260|PMID:32901917
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9009304	Idiopathic Generalized Epilepsy 12		ISO	RGD:737272	D	RGD:7240710	20260722	OMIM			
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9009304	Idiopathic Generalized Epilepsy 12		ISO	RGD:737272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 12	PMID:10980529|PMID:11477212|PMID:12325075|PMID:16949238|PMID:17052934|PMID:17576681|PMID:17718830|PMID:18414213|PMID:19630075|PMID:20129935|PMID:20221955|PMID:20417043|PMID:20687207|PMID:21069159|PMID:21555602|PMID:21832227|PMID:22011817|PMID:22282645|PMID:23280796|PMID:23306390|PMID:23340081|PMID:23448551|PMID:25108116|PMID:25487684|PMID:25741868|PMID:25914049|PMID:26193382|PMID:26267703|PMID:26467025|PMID:26537434|PMID:26598494|PMID:28116237|PMID:28419980|PMID:28492532|PMID:28556183|PMID:28717674|PMID:28961260|PMID:30588498|PMID:30714351|PMID:30895386|PMID:31069529|PMID:31737037|PMID:32404902|PMID:36088537|PMID:36153584|PMID:36362347|PMID:37293674|PMID:38041506|PMID:9536098
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9296	cleft lip		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:10980529|PMID:11477212|PMID:19630075|PMID:20129935|PMID:21555602|PMID:24487825|PMID:25741868|PMID:26193382|PMID:26598494|PMID:28042592|PMID:28492532|PMID:32753446
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:10022440|REF_RGD_ID:12879500
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9589670
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:18613291|REF_RGD_ID:2312306
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:737272	D	RGD:9068941	20200609	RGD			PMID:7516306|PMID:9789717|REF_RGD_ID:2312289|REF_RGD_ID:2312290
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:963	episodic ataxia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic ataxia	PMID:26193382
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9840	esotropia		ISO	RGD:737272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:21555602|PMID:21865127|PMID:22976442|PMID:25487684|PMID:25741868|PMID:27250207|PMID:28018440|PMID:28492532
12081631	SLC2A1	solute carrier family 2 member 1	gene	DOID:9970	obesity	treatment	ISO	RGD:737272	D	RGD:9068941	20200609	RGD		associated with Polycystic Ovary Syndrome	PMID:24842895|REF_RGD_ID:12879503
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:10534	stomach cancer		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:1115	sarcoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:1909	melanoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:4362	cervical cancer		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081654	ATP6V1H	ATPase H+ transporting V1 subunit H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344589	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:1115	sarcoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:1909	melanoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:3393	coronary artery disease		ISO	RGD:1344589	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:p.F217L (rs1047552) (human)	PMID:18987747|REF_RGD_ID:13703124
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:9003284	HIV Seropositivity	susceptibility	ISO	RGD:1344589	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:p.F217L (rs1047552) (human)	PMID:19774691|REF_RGD_ID:13703126
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081682	APH1B	aph-1 homolog B, gamma-secretase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:10534	stomach cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:1115	sarcoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1315487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:1324	lung cancer		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:1909	melanoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:3275	thymoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:3393	coronary artery disease		ISO	RGD:1315487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1315487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:9000528	Coronary Disease		ISO	RGD:1315487	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	PMID:25741868
12081700	ADAMTS7	ADAM metallopeptidase with thrombospondin type 1 motif 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081727	CEP126	centrosomal protein 126	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081727	CEP126	centrosomal protein 126	gene	DOID:0080600	COVID-19		ISO	RGD:1606251	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12081727	CEP126	centrosomal protein 126	gene	DOID:10534	stomach cancer		ISO	RGD:1606251	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081727	CEP126	centrosomal protein 126	gene	DOID:4362	cervical cancer		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081727	CEP126	centrosomal protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0050847	sleep apnea		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0060805	Prieto syndrome		ISO	RGD:1346670	D	RGD:7240710	20231206	OMIM			
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0060805	Prieto syndrome		ISO	RGD:1346670	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PRIETO SYNDROME | ClinVar Annotator: match by term: Prieto syndrome | ClinVar Annotator: match by term: WNK3-related condition	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346670	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:1826	epilepsy		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
12081770	WNK3	WNK lysine deficient protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081807	LRRC25	leucine rich repeat containing 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081807	LRRC25	leucine rich repeat containing 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081817	PARP16	poly(ADP-ribose) polymerase family member 16	gene	DOID:1324	lung cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081817	PARP16	poly(ADP-ribose) polymerase family member 16	gene	DOID:4362	cervical cancer		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081817	PARP16	poly(ADP-ribose) polymerase family member 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12081817	PARP16	poly(ADP-ribose) polymerase family member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081817	PARP16	poly(ADP-ribose) polymerase family member 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081827	CHCHD5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12081827	CHCHD5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12081827	CHCHD5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081827	CHCHD5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081827	CHCHD5	coiled-coil-helix-coiled-coil-helix domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081838	S100A14	S100 calcium binding protein A14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081838	S100A14	S100 calcium binding protein A14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12081838	S100A14	S100 calcium binding protein A14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12081849	DACT2	dishevelled binding antagonist of beta catenin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081849	DACT2	dishevelled binding antagonist of beta catenin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081849	DACT2	dishevelled binding antagonist of beta catenin 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1321823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350976	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:10754	otitis media		ISO	RGD:1350976	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Otitis media, susceptibility to	PMID:32709676
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:621768	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:21910062|REF_RGD_ID:9999396
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1350976	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:18375249|REF_RGD_ID:9999419
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:14500739|REF_RGD_ID:9999390
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:4692	endophthalmitis		ISO	RGD:621768	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;protein:increased expression:cornea, retina, vitreous humor	PMID:18274645|REF_RGD_ID:9999421
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:23361363|REF_RGD_ID:9999400
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:22020578|REF_RGD_ID:9999424
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:19595018|REF_RGD_ID:2314952
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621768	D	RGD:9068941	20200609	RGD		protein:decreased expression:articular cartilage of joint	PMID:9744360|REF_RGD_ID:9999431
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:10449524|REF_RGD_ID:634208
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1551752	D	RGD:9068941	20200609	RGD			PMID:22436018|REF_RGD_ID:9999395
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:22436018|REF_RGD_ID:9999395
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1350976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8215636
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9004610	Acute Lung Injury	severity	ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:10092827|REF_RGD_ID:9999422
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:621768	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:25466948|REF_RGD_ID:9999425
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9005930	Endotoxemia		ISO	RGD:621768	D	RGD:9068941	20200609	RGD			PMID:25466948|REF_RGD_ID:9999425
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350976	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
12081858	SLPI	secretory leukocyte peptidase inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12081873	LOC100683783	double homeobox protein 4C-like	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:8663052	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:27019113
12081873	LOC100683783	double homeobox protein 4C-like	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:8663052	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:22796148
12081873	LOC100683783	double homeobox protein 4C-like	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:8663052	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:27776115
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:1324	lung cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9000058	Keloid		ISO	RGD:1347516	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:28905881
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12081874	AGPAT5	1-acylglycerol-3-phosphate O-acyltransferase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12081912	NPHP3	nephrocystin 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342817	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:18371931|PMID:19303681|PMID:23559409|PMID:25741868|PMID:26184788|PMID:28492532|PMID:28921755|PMID:32040628|PMID:32173348|PMID:33323469|PMID:34031707
12081912	NPHP3	nephrocystin 3	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1342817	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	
12081912	NPHP3	nephrocystin 3	gene	DOID:0070121	Meckel syndrome 7		ISO	RGD:1342817	D	RGD:7240710	20180130	OMIM			
12081912	NPHP3	nephrocystin 3	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1342817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089381
12081912	NPHP3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19303681|PMID:20007846|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1342817	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28921755|PMID:28973083|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:34212438|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:0111114	nephronophthisis 3		ISO	RGD:1342817	D	RGD:7240710	20180130	OMIM			
12081912	NPHP3	nephrocystin 3	gene	DOID:10763	hypertension		ISO	RGD:1342817	D	RGD:9068941	20230107	RGD		associated with nephronophthisis;	PMID:19177160|REF_RGD_ID:155791686
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32552793|PMID:33532864|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:31980526|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:24033266|PMID:24776604|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:30002499|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34031707|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:10631142|PMID:12872122|PMID:16199547|PMID:17576681|PMID:17855640|PMID:18076122|PMID:18371931|PMID:19177160|PMID:19303681|PMID:20007846|PMID:21866095|PMID:23188109|PMID:23559409|PMID:23686967|PMID:24033266|PMID:24776604|PMID:25356970|PMID:25741868|PMID:26184788|PMID:26673778|PMID:27353947|PMID:27491411|PMID:27894351|PMID:28132693|PMID:28492532|PMID:28844315|PMID:28921755|PMID:28973083|PMID:28991257|PMID:29801666|PMID:30002499|PMID:30586318|PMID:31131822|PMID:31980526|PMID:32040628|PMID:32055034|PMID:32173348|PMID:32502767|PMID:32552793|PMID:33323469|PMID:33532864|PMID:34013113|PMID:34031707|PMID:34212438|PMID:34426522|PMID:9536098
12081912	NPHP3	nephrocystin 3	gene	DOID:12712	nephronophthisis		ISO	RGD:1342817	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872122|PMID:18371931|PMID:21866095|PMID:23559409|PMID:26184788|PMID:28492532|PMID:31131822|PMID:34031707
12081912	NPHP3	nephrocystin 3	gene	DOID:2975	cystic kidney disease		ISO	RGD:1556941	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.I614S (mouse)	PMID:18371931|REF_RGD_ID:11352488
12081912	NPHP3	nephrocystin 3	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1556941	D	RGD:9068941	20250206	RGD			PMID:18371931|REF_RGD_ID:11352488
12081912	NPHP3	nephrocystin 3	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1556941	D	RGD:9068941	20220825	MouseDO			
12081912	NPHP3	nephrocystin 3	gene	DOID:9001991	Renal-Hepatic-Pancreatic Dysplasia 1		ISO	RGD:1342817	D	RGD:7240710	20180130	OMIM			
12081912	NPHP3	nephrocystin 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1342817	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12089381
12081912	NPHP3	nephrocystin 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1342817	D	RGD:9068941	20200609	RGD		DNA:missense mutation, nonsense mutations, splice-site mutations:multiple	PMID:18371931|REF_RGD_ID:11352488
12081979	MIR200C	microRNA mir-200c	gene	DOID:10892	hypospadias		ISO	RGD:2325553	D	RGD:9068941	20250306	RGD		RNA:decreased expression:penis	PMID:27794206|REF_RGD_ID:597830139
12081979	MIR200C	microRNA mir-200c	gene	DOID:1686	glaucoma	treatment	ISO	RGD:2325553	D	RGD:9068941	20230202	RGD			PMID:23272142|REF_RGD_ID:155882562
12081979	MIR200C	microRNA mir-200c	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:25926378|PMID:29113749
12081979	MIR200C	microRNA mir-200c	gene	DOID:4989	pancreatitis		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12081979	MIR200C	microRNA mir-200c	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1353057	D	RGD:9068941	20210813	CTD		CTD Direct Evidence: marker/mechanism	PMID:33048239
12081979	MIR200C	microRNA mir-200c	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21248297
12081979	MIR200C	microRNA mir-200c	gene	DOID:9000918	Disease Progression		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19839049
12081979	MIR200C	microRNA mir-200c	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12081979	MIR200C	microRNA mir-200c	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19839049
12081979	MIR200C	microRNA mir-200c	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1353057	D	RGD:9068941	20200609	RGD		associated with colorectal cancer;RNA:increased expression:liver:	PMID:28617555|REF_RGD_ID:14928321
12081979	MIR200C	microRNA mir-200c	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12081979	MIR200C	microRNA mir-200c	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22569286
12081979	MIR200C	microRNA mir-200c	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353057	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19839049|PMID:20099276
12081979	MIR200C	microRNA mir-200c	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1353057	D	RGD:9068941	20200609	RGD			PMID:25205654|REF_RGD_ID:13217416
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:0050117	disease by infectious agent		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISO	RGD:3130125	D	RGD:7240710	20180130	OMIM			
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:0110935	nemaline myopathy 6		ISO	RGD:3130125	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 6 | ClinVar Annotator: match by term: Nemaline myopathy 6 | ClinVar Annotator: match by term: Nemaline myopathy 6, autosomal dominant	PMID:11731279|PMID:18414213|PMID:21109227|PMID:25741868|PMID:26467025|PMID:27074222|PMID:28492532|PMID:29382405|PMID:29970176|PMID:30208948|PMID:31167812|PMID:31475037|PMID:31671076|PMID:31828823
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:1287	cardiovascular system disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:2030	anxiety disorder		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:2841	asthma		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:3312	bipolar disorder		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:480	movement disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:630	genetic disease		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:870	neuropathy		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: neuropathy	PMID:25741868
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9000495	Tremor		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9002563	Gait Ataxia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9003242	Paresthesia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9004866	Ataxia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9005532	Muscle Weakness		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9007077	Actin-Accumulation Myopathy		ISO	RGD:3130125	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Actin accumulation myopathy	PMID:25741868
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9008023	Memory Disorders		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9256	colorectal cancer		ISO	RGD:3130125	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:25741868
12082012	KBTBD13	kelch repeat and BTB domain containing 13	gene	DOID:9834	hyperopia		ISO	RGD:3130125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12082032	SEC61B	SEC61 translocon subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082032	SEC61B	SEC61 translocon subunit beta	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:1312761	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	
12082032	SEC61B	SEC61 translocon subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082032	SEC61B	SEC61 translocon subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1312761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082032	SEC61B	SEC61 translocon subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:0111582	hereditary arterial and articular multiple calcification syndrome		ISO	RGD:734028	D	RGD:7240710	20180130	OMIM			
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:0111582	hereditary arterial and articular multiple calcification syndrome		ISO	RGD:734028	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: CALCIFICATION OF JOINTS AND ARTERIES | ClinVar Annotator: match by term: Hereditary arterial and articular multiple calcification syndrome | ClinVar Annotator: match by term: NT5E-related condition	PMID:21288095|PMID:24887587|PMID:25741868|PMID:28492532
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:1824	status epilepticus		ISO	RGD:61956	D	RGD:9068941	20200609	RGD		protein:increased activity:cerebral cortex, synaptosome (rat)	PMID:16274951|REF_RGD_ID:5134344
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:630	genetic disease		ISO	RGD:734028	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:769	neuroblastoma		ISO	RGD:734028	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: therapeutic	PMID:34773529
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:734028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9000918	Disease Progression		ISO	RGD:734028	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: therapeutic	PMID:34773529
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9000998	Brain Injuries		ISO	RGD:61956	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebral cortex (rat)	PMID:21337375|REF_RGD_ID:5134348
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18263696
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61956	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, synaptosome (rat)	PMID:19723569|REF_RGD_ID:5134343
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:734028	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: therapeutic	PMID:34773529
12082040	NT5E	5'-nucleotidase ecto	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082052	NCALD	neurocalcin delta	gene	DOID:0080600	COVID-19		ISO	RGD:1348281	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12082052	NCALD	neurocalcin delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082052	NCALD	neurocalcin delta	gene	DOID:1115	sarcoma		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082052	NCALD	neurocalcin delta	gene	DOID:3275	thymoma		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082052	NCALD	neurocalcin delta	gene	DOID:4362	cervical cancer		ISO	RGD:1348281	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082052	NCALD	neurocalcin delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0060538	purpura fulminans		ISO	RGD:737321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18376272
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0060903	thrombosis		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: thrombosis	PMID:25741868|PMID:31064749|PMID:8128429
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0060903	thrombosis	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:8073406|REF_RGD_ID:11250413
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0111902	thrombophilia due to activated protein C resistance		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:25196808|REF_RGD_ID:11099994
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency		ISO	RGD:737321	D	RGD:7240710	20180130	OMIM			
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0111904	autosomal recessive thrombophilia due to protein C deficiency		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROC DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal recessive	PMID:1301954|PMID:1301959|PMID:1347608|PMID:1511989|PMID:15748260|PMID:1593215|PMID:17152060|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21901152|PMID:24796542|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25533856|PMID:25741868|PMID:27172833|PMID:27517348|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31254973|PMID:31352677|PMID:32309994|PMID:33537542|PMID:34355501|PMID:34708097|PMID:7482420|PMID:7605880|PMID:7792728|PMID:8499565
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency		ISO	RGD:737321	D	RGD:7240710	20180613	OMIM			
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency		ISO	RGD:737321	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROC DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: PROC-related disorder | ClinVar Annotator: match by term: PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant	PMID:10669160|PMID:10805275|PMID:10942114|PMID:11336399|PMID:1301954|PMID:1301959|PMID:1347608|PMID:14642106|PMID:1464619|PMID:1498334|PMID:1511989|PMID:1593215|PMID:16199547|PMID:1678832|PMID:16867987|PMID:17152060|PMID:17576681|PMID:17635713|PMID:1771629|PMID:18573519|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21744130|PMID:21901152|PMID:22168450|PMID:22353194|PMID:22545135|PMID:22576310|PMID:22627591|PMID:22817391|PMID:22944127|PMID:22951146|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:24233386|PMID:24300144|PMID:24755471|PMID:24782131|PMID:24796542|PMID:25039884|PMID:25393254|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25748729|PMID:26437033|PMID:27172833|PMID:27517348|PMID:2783855|PMID:27838551|PMID:28111891|PMID:28174134|PMID:28405673|PMID:28468828|PMID:28492532|PMID:28511552|PMID:28607330|PMID:29536478|PMID:2991887|PMID:30210609|PMID:30439769|PMID:30632992|PMID:30669159|PMID:31064749|PMID:31180159|PMID:31254973|PMID:31352677|PMID:31521534|PMID:31700678|PMID:31821907|PMID:3185623|PMID:32078247|PMID:32309994|PMID:32717757|PMID:32964666|PMID:33165188|PMID:33537542|PMID:34355501|PMID:34708097|PMID:35112923|PMID:35231991|PMID:35626216|PMID:37307703|PMID:37393002|PMID:37647632|PMID:37789321|PMID:37950050|PMID:38015884|PMID:38641321|PMID:39724247|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:7831652|PMID:7865674|PMID:7951255|PMID:7981702|PMID:8093743|PMID:8165644|PMID:8292730|PMID:8324221|PMID:8446940|PMID:8477066|PMID:8499565|PMID:8499568|PMID:8505327|PMID:8704244|PMID:8829639|PMID:8972002|PMID:9536098|PMID:9840027
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:10159	osteonecrosis		ISO	RGD:737321	D	RGD:9068941	20200625	RGD		associated with severe acute respiratory syndrome;protein:decreased expression:plasma (human)	PMID:16547717|PMID:16677567|REF_RGD_ID:30309948|REF_RGD_ID:30309951
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:10591	pre-eclampsia		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:9065198|REF_RGD_ID:11564336
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:10763	hypertension		ISO	RGD:737321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:10936861|REF_RGD_ID:11100014
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:1115	sarcoma		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:11161	D	RGD:9068941	20200609	RGD			PMID:9788960|REF_RGD_ID:11099993
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:737321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18376272
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:10936861|REF_RGD_ID:11100014
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:11695	portal vein thrombosis		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal vein thrombosis	PMID:25741868
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:1247	blood coagulation disease		ISO	RGD:11161	D	RGD:9068941	20200609	RGD			PMID:19333141|REF_RGD_ID:11100017
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:14115	toxic shock syndrome		ISO	RGD:11161	D	RGD:9068941	20200609	RGD			PMID:19320827|REF_RGD_ID:11100015
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:21850534|REF_RGD_ID:11100041
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:1969	cerebral palsy		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24796542|PMID:25741868|PMID:31064749
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2450	central retinal vein occlusion	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:20688738|REF_RGD_ID:11100028
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2452	thrombophilia		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:7881411|REF_RGD_ID:1581278
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2452	thrombophilia		ISO	RGD:737321	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation, missense mutation:cds:p.R306X, p.W402C (human)	PMID:2437584|REF_RGD_ID:1578514
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2452	thrombophilia		ISO	RGD:737321	D	RGD:9068941	20200609	RGD		associated with Infertility, Female	PMID:24189967|REF_RGD_ID:11099991
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2841	asthma	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:26381519|REF_RGD_ID:11099992
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:25196808|REF_RGD_ID:11099994
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:19092124|REF_RGD_ID:11250410
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:11161	D	RGD:9068941	20200609	RGD			PMID:24159062|REF_RGD_ID:11100027
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:3526	cerebral infarction		ISO	RGD:737321	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:33761690
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:3756	protein C deficiency		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Protein C deficiency	PMID:10805275|PMID:10942114|PMID:1596024|PMID:17152060|PMID:18573519|PMID:18954896|PMID:19373522|PMID:21045961|PMID:22627591|PMID:24162787|PMID:24509341|PMID:25637381|PMID:25741868|PMID:28111891|PMID:28492532|PMID:31064749|PMID:31254973|PMID:31680443|PMID:3185623|PMID:32132969|PMID:34654403|PMID:7482420|PMID:7865674|PMID:8165644|PMID:8499565|PMID:8829639
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:5844	myocardial infarction		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:10936861|REF_RGD_ID:11100014
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:630	genetic disease		ISO	RGD:737321	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17152060|PMID:25741868|PMID:29349439|PMID:32309994|PMID:38011862|PMID:40250449
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:8432	polycythemia		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycythemia	PMID:25741868
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9001211	cerebral venous thrombosis		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral venous thrombosis	PMID:1868249|PMID:22627591|PMID:25741868|PMID:27838551|PMID:28492532|PMID:31064749|PMID:31821907|PMID:34708097|PMID:37647632|PMID:38015884|PMID:38641321|PMID:8093743
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:10903607|REF_RGD_ID:11100044
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:12605111|REF_RGD_ID:11100021
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:18507760|REF_RGD_ID:11100046
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9002564	Arteritis		ISO	RGD:737321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17139375
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9002910	Hearing Loss, Noise-Induced	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:25108045|REF_RGD_ID:11100045
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9003121	Thromboembolism		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thromboembolism	PMID:1868249|PMID:22627591|PMID:25741868|PMID:27838551|PMID:28492532|PMID:31064749|PMID:31821907|PMID:34708097|PMID:37647632|PMID:38015884|PMID:38641321|PMID:8093743
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Miscarriage | ClinVar Annotator: match by term: miscarriage	PMID:25741868|PMID:28492532|PMID:7482420
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: venous thromboembolism	PMID:25741868|PMID:34355501
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:1301954|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501|PMID:6589623
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deep venous thrombosis	PMID:1301954|PMID:25741868|PMID:28492532|PMID:31064749|PMID:34355501
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004484	Sepsis		ISO	RGD:737321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11820775|PMID:17556722
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:3411	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, plasma	PMID:15241104|REF_RGD_ID:11250412
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:22940033|REF_RGD_ID:11100029
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD		associated with Intestinal Reperfusion Injury	PMID:18367148|REF_RGD_ID:11250405
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD		associated with Pseudomonas Infections	PMID:16553944|REF_RGD_ID:11100043
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9004649	Heat Stroke	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:16715032|REF_RGD_ID:11250411
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:18205901|PMID:23170801|REF_RGD_ID:11100030|REF_RGD_ID:11100034
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9006363	Congenital Thrombotic Disease, due to Protein C Deficiency		ISO	RGD:737321	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary thrombophilia due to congenital protein C deficiency | ClinVar Annotator: match by term: Reduced protein C activity	PMID:11019966|PMID:1301954|PMID:1301959|PMID:1347608|PMID:1511989|PMID:17152060|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21621249|PMID:21901152|PMID:22545135|PMID:22817391|PMID:22944127|PMID:23332921|PMID:23389250|PMID:24028705|PMID:24162787|PMID:24233386|PMID:25039884|PMID:25637381|PMID:25741868|PMID:28111891|PMID:28492532|PMID:28511552|PMID:28607330|PMID:30210609|PMID:31064749|PMID:31180159|PMID:31254973|PMID:31352677|PMID:31821907|PMID:32717757|PMID:32964666|PMID:33537542|PMID:34355501|PMID:34708097|PMID:37789321|PMID:37950050|PMID:7482420|PMID:7605880|PMID:7670104|PMID:7792728|PMID:7878626|PMID:8292730|PMID:8499565|PMID:8704244
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:19782612|REF_RGD_ID:11100035
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9007402	Gliosis		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:24796542|PMID:25741868|PMID:31064749
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9007456	Female Infertility		ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:24189967|REF_RGD_ID:11099991
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:19680809|REF_RGD_ID:11100040
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:15187522|REF_RGD_ID:11250409
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9477	pulmonary embolism		ISO	RGD:737321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism | ClinVar Annotator: match by term: pulmonary embolism	PMID:1347608|PMID:17152060|PMID:1868249|PMID:18954896|PMID:19535131|PMID:20815936|PMID:21901152|PMID:22627591|PMID:25039884|PMID:25741868|PMID:27172833|PMID:27838551|PMID:28111891|PMID:28492532|PMID:28607330|PMID:31064749|PMID:31352677|PMID:31821907|PMID:32717757|PMID:33537542|PMID:34355501|PMID:34708097|PMID:37647632|PMID:38015884|PMID:38641321|PMID:7482420|PMID:8093743
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9649	congenital nystagmus		ISO	RGD:737321	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:24796542|PMID:25741868|PMID:31064749
12082073	PROC	protein C, inactivator of coagulation factors Va and VIIIa	gene	DOID:9667	placental abruption	susceptibility	ISO	RGD:737321	D	RGD:9068941	20200609	RGD			PMID:9855597|REF_RGD_ID:11564329
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0060058	lymphoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1601767	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:19463981|PMID:24033266|PMID:25741868|PMID:28492532
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1601767	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112070	nuclear type mitochondrial complex I deficiency 18		ISO	RGD:1601767	D	RGD:7240710	20190315	OMIM			
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112070	nuclear type mitochondrial complex I deficiency 18		ISO	RGD:1601767	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 18	PMID:25741868|PMID:27986404|PMID:28492532|PMID:34656053
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1601767	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:34656053
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:630	genetic disease		ISO	RGD:1601767	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34656053
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12082100	NDUFAF3	NADH:ubiquinone oxidoreductase complex assembly factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601767	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318880	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082115	ADHFE1	alcohol dehydrogenase iron containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:0060058	lymphoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:1115	sarcoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12082140	VWA5B1	von Willebrand factor A domain containing 5B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:1909	melanoma		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:4362	cervical cancer		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082166	PCNP	PEST proteolytic signal containing nuclear protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1115	sarcoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:1909	melanoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:3275	thymoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602104	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:893	Wilson disease		ISO	RGD:1602104	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082175	ANKS1B	ankyrin repeat and sterile alpha motif domain containing 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602104	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:1909	melanoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320236	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082214	TBRG4	transforming growth factor beta regulator 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082215	MAN1A2	mannosidase alpha class 1A member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082243	SLC25A45	solute carrier family 25 member 45	gene	DOID:1909	melanoma		ISO	RGD:1604185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:0050214	Lambert-Eaton myasthenic syndrome		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:17764462|REF_RGD_ID:5133415
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:11832	visual epilepsy		ISO	RGD:731068	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10069499|PMID:11392617|PMID:12091480|PMID:12713643|PMID:8028781
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:1826	epilepsy		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18333967
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:2316	brain ischemia		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18501976
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:2841	asthma		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:16931638|REF_RGD_ID:5133416
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:437	myasthenia gravis		ISO	RGD:731068	D	RGD:9068941	20200609	RGD			PMID:17764462|REF_RGD_ID:5133415
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21682298
12082261	CHRM1	cholinergic receptor muscarinic 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731069	D	RGD:9068941	20200609	RGD			PMID:12483218|REF_RGD_ID:734777
12082270	SPAG4	sperm associated antigen 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082270	SPAG4	sperm associated antigen 4	gene	DOID:10534	stomach cancer		ISO	RGD:734255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082270	SPAG4	sperm associated antigen 4	gene	DOID:3070	high grade glioma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12082270	SPAG4	sperm associated antigen 4	gene	DOID:4362	cervical cancer		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082270	SPAG4	sperm associated antigen 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082270	SPAG4	sperm associated antigen 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:1115	sarcoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:5419	schizophrenia		ISO	RGD:1348841	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:9003965	NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY		ISO	RGD:1348841	D	RGD:7240710	20230719	OMIM			
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:9003965	NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY		ISO	RGD:1348841	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY | ClinVar Annotator: match by term: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity	PMID:25741868
12082309	ESAM	endothelial cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:1115	sarcoma		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:1324	lung cancer		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:1909	melanoma		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Esophageal cancer	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:9001798	Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant		ISO	RGD:1346552	D	RGD:7240710	20180130	OMIM			
12082325	BCO1	beta-carotene oxygenase 1	gene	DOID:9001798	Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant		ISO	RGD:1346552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BCO1-related condition | ClinVar Annotator: match by term: Hereditary hypercarotenemia and vitamin A deficiency | ClinVar Annotator: match by term: hereditary hypercarotenemia and vitamin A deficiency	PMID:25741868|PMID:28492532
12082345	POP7	POP7 homolog, ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082345	POP7	POP7 homolog, ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082361	TTYH3	tweety family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082361	TTYH3	tweety family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082361	TTYH3	tweety family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082361	TTYH3	tweety family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082361	TTYH3	tweety family member 3	gene	DOID:1909	melanoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082361	TTYH3	tweety family member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12082361	TTYH3	tweety family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082361	TTYH3	tweety family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082361	TTYH3	tweety family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082361	TTYH3	tweety family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082382	MKLN1	muskelin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082382	MKLN1	muskelin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082382	MKLN1	muskelin 1	gene	DOID:10534	stomach cancer		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082382	MKLN1	muskelin 1	gene	DOID:1909	melanoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082382	MKLN1	muskelin 1	gene	DOID:2722	acrodermatitis		IAGP		D	RGD:12801476	20250716	OMIA		Acrodermatitis, lethal, MKLN1-related	PMID:2402865|PMID:9256960|PMID:17693109|PMID:14592736|PMID:11440398|PMID:11105789|PMID:10563006|PMID:8981276|PMID:3710872|PMID:29565995|PMID:34861369|PMID:37582787
12082382	MKLN1	muskelin 1	gene	DOID:3275	thymoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082382	MKLN1	muskelin 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:734391	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38460002
12082382	MKLN1	muskelin 1	gene	DOID:4362	cervical cancer		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082382	MKLN1	muskelin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082382	MKLN1	muskelin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082382	MKLN1	muskelin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082382	MKLN1	muskelin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082382	MKLN1	muskelin 1	gene	DOID:9000310	Lung Injury		ISO	RGD:734391	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38460002
12082382	MKLN1	muskelin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082382	MKLN1	muskelin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082382	MKLN1	muskelin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:1324	lung cancer		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:3275	thymoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082404	TMEM255B	transmembrane protein 255B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:1115	sarcoma		ISO	RGD:1323181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:3070	high grade glioma		ISO	RGD:1323181	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:38963134
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:4362	cervical cancer		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:5041	esophageal cancer		ISO	RGD:1323181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082418	UBE2K	ubiquitin conjugating enzyme E2 K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082437	SLC51B	SLC51 subunit beta	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920
12082437	SLC51B	SLC51 subunit beta	gene	DOID:13580	cholestasis		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16423920|PMID:22461449
12082437	SLC51B	SLC51 subunit beta	gene	DOID:1561	cognitive disorder		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
12082437	SLC51B	SLC51 subunit beta	gene	DOID:9002010	Primary Bile Acid Malabsorption 2		ISO	RGD:1604245	D	RGD:7240710	20210825	OMIM			
12082437	SLC51B	SLC51 subunit beta	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1604245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29382564
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:1314486	D	RGD:9068941	20220825	MouseDO			
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:10603	glucose intolerance		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:17389588
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21285402
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:21285402
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9970	obesity		ISO	RGD:1314485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16446448|PMID:21285402
12082452	NEIL1	nei like DNA glycosylase 1	gene	DOID:9970	obesity		ISO	RGD:1314486	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
12082480	NSG2	neuronal vesicle trafficking associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082480	NSG2	neuronal vesicle trafficking associated 2	gene	DOID:1909	melanoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082480	NSG2	neuronal vesicle trafficking associated 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082480	NSG2	neuronal vesicle trafficking associated 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082496	LIG1	DNA ligase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082496	LIG1	DNA ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082496	LIG1	DNA ligase 1	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:731763	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
12082496	LIG1	DNA ligase 1	gene	DOID:0061066	immunodeficiency 96		ISO	RGD:731763	D	RGD:7240710	20220316	OMIM			
12082496	LIG1	DNA ligase 1	gene	DOID:0061066	immunodeficiency 96		ISO	RGD:731763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 96 | ClinVar Annotator: match by term: Immunodeficiency 96 | ClinVar Annotator: match by term: LIG1-related condition	PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32888943|PMID:32914844|PMID:33444456|PMID:33600799
12082496	LIG1	DNA ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082496	LIG1	DNA ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:1909	melanoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082496	LIG1	DNA ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:2717	Bloom syndrome		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DNA Ligase I Deficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12082496	LIG1	DNA ligase 1	gene	DOID:3275	thymoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731763	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12082496	LIG1	DNA ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:731763	D	RGD:9068941	20200609	RGD		DNA ligase I deficiency	PMID:1351188|REF_RGD_ID:1600089
12082496	LIG1	DNA ligase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:731763	D	RGD:9068941	20200609	RGD		DNA ligase I deficiency	PMID:1351188|REF_RGD_ID:1600089
12082496	LIG1	DNA ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:621424	D	RGD:9068941	20200609	RGD			PMID:30813600|REF_RGD_ID:14995940
12082496	LIG1	DNA ligase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:731763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:1581963|PMID:25741868|PMID:28492532|PMID:30395541|PMID:32914844|PMID:33600799
12082496	LIG1	DNA ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532
12082496	LIG1	DNA ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082496	LIG1	DNA ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
12082548	KIF17	kinesin family member 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082548	KIF17	kinesin family member 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344438	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12082548	KIF17	kinesin family member 17	gene	DOID:10534	stomach cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082548	KIF17	kinesin family member 17	gene	DOID:1115	sarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082548	KIF17	kinesin family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082548	KIF17	kinesin family member 17	gene	DOID:3275	thymoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082548	KIF17	kinesin family member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082548	KIF17	kinesin family member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1344438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082548	KIF17	kinesin family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082548	KIF17	kinesin family member 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12082548	KIF17	kinesin family member 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082548	KIF17	kinesin family member 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12082548	KIF17	kinesin family member 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082548	KIF17	kinesin family member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082548	KIF17	kinesin family member 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082585	NPTX2	neuronal pentraxin 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1319794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19084905
12082585	NPTX2	neuronal pentraxin 2	gene	DOID:1115	sarcoma		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082585	NPTX2	neuronal pentraxin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12082585	NPTX2	neuronal pentraxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:0060260	ptosis		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Meier-Gorlin syndrome	PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:3023959
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1350406	D	RGD:7240710	20190424	OMIM			
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:0080512	Meier-Gorlin syndrome 1		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 1 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition	PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28112645|PMID:28492532|PMID:3023959|PMID:31274184|PMID:33482836|PMID:35568357
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350406	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1350406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358633
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:21358631|PMID:25741868|PMID:28492532|PMID:33482836
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1350406	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21358631|PMID:21358632|PMID:21358633|PMID:22333897|PMID:22855792|PMID:23023959|PMID:23516378|PMID:24033266|PMID:25689043|PMID:25741868|PMID:28492532|PMID:3023959
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1350406	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358633
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21358631|PMID:25741868|PMID:28492532|PMID:33482836
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082594	ORC1	origin recognition complex subunit 1	gene	DOID:9834	hyperopia		ISO	RGD:1350406	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12082623	TTC32	tetratricopeptide repeat domain 32	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082623	TTC32	tetratricopeptide repeat domain 32	gene	DOID:4362	cervical cancer		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082623	TTC32	tetratricopeptide repeat domain 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082639	MIR365-2	microRNA mir-365-2	gene	DOID:2043	hepatitis B		ISO	RGD:2290202	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:0060917	facioscapulohumeral muscular dystrophy 3		ISO	RGD:1603986	D	RGD:7240710	20210825	OMIM			
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:0060917	facioscapulohumeral muscular dystrophy 3		ISO	RGD:1603986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 3, digenic	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603986	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082727	LRIF1	ligand dependent nuclear receptor interacting factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:620758	D	RGD:9068941	20230202	RGD		mRNA, protein:increases expression:mitral valve, heart (rat)	PMID:33179113|REF_RGD_ID:155882558
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1553692	D	RGD:9068941	20240425	MouseDO			
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:13580	cholestasis		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:4159	skin cancer		ISO	RGD:1553692	D	RGD:9068941	20240425	MouseDO			
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28318631
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347076	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35841383
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22580338|PMID:23219715
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22580338|PMID:24014025
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11850205|PMID:24014025
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1347076	D	RGD:9068941	20220728	RGD		Human cells in mouse model	PMID:32682784|REF_RGD_ID:153297782
12082738	SNAI1	snail family transcriptional repressor 1	gene	DOID:9655	oral mucosa leukoplakia	disease_progression	ISO	RGD:1347076	D	RGD:9068941	20220210	RGD			PMID:28939076|REF_RGD_ID:151356661
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:0070134	autosomal recessive cutis laxa type IIA		ISO	RGD:1320849	D	RGD:7240710	20180130	OMIM			
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:0070134	autosomal recessive cutis laxa type IIA		ISO	RGD:1320849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION | ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA | ClinVar Annotator: match by term: Cutis laxa with osteodystrophy | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IIA	PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:20301755|PMID:24478233|PMID:25741868|PMID:26467025|PMID:28492532|PMID:4544753|PMID:9536098
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:0080564	congenital disorder of glycosylation Il		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ALG9 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il	PMID:16199547|PMID:17576681|PMID:18157129|PMID:19321599|PMID:20301755|PMID:22773132|PMID:23806237|PMID:23963297|PMID:24478233|PMID:25741868|PMID:26467025|PMID:28294978|PMID:28492532|PMID:29419872|PMID:30653653|PMID:9536098
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:0112171	wrinkly skin syndrome		ISO	RGD:1320849	D	RGD:7240710	20180130	OMIM			
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:0112171	wrinkly skin syndrome		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WRINKLY SKIN SYNDROME | ClinVar Annotator: match by term: Wrinkly skin syndrome	PMID:18157129|PMID:20301755|PMID:25741868|PMID:26467025|PMID:28492532
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:10534	stomach cancer		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320849	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:1115	sarcoma		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:3144	cutis laxa		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:4362	cervical cancer		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:630	genetic disease		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082743	ATP6V0A2	ATPase H+ transporting V0 subunit a2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:19321599|PMID:28492532|PMID:9536098
12082767	TMEM240	transmembrane protein 240	gene	DOID:0050972	spinocerebellar ataxia 21		ISO	RGD:1603247	D	RGD:7240710	20180130	OMIM			
12082767	TMEM240	transmembrane protein 240	gene	DOID:0050972	spinocerebellar ataxia 21		ISO	RGD:1603247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 21 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 21 | ClinVar Annotator: match by term: TMEM240-related condition	PMID:25070513|PMID:25741868|PMID:28492532|PMID:30522958|PMID:33851480|PMID:39048885
12082767	TMEM240	transmembrane protein 240	gene	DOID:0111155	autosomal recessive spinocerebellar ataxia 21		ISO	RGD:1603247	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	PMID:25741868
12082767	TMEM240	transmembrane protein 240	gene	DOID:4362	cervical cancer		ISO	RGD:1603247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082767	TMEM240	transmembrane protein 240	gene	DOID:630	genetic disease		ISO	RGD:1603247	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25070513|PMID:25741868|PMID:28492532|PMID:30184469|PMID:30522958
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313851	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313851	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313851	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313851	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082780	BICRAL	BICRA like chromatin remodeling complex associated protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1313851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:0051007	congenital nonspherocytic hemolytic anemia 8		ISO	RGD:1323774	D	RGD:7240710	20180130	OMIM			
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:0051007	congenital nonspherocytic hemolytic anemia 8		ISO	RGD:1323774	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 8 | ClinVar Annotator: match by term: NT5C3A-related condition | ClinVar Annotator: match by term: UMPH1 DEFICIENCY	PMID:11369620|PMID:12714505|PMID:12930399|PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:10534	stomach cancer		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:1115	sarcoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:1323774	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16672222
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:4362	cervical cancer		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:5041	esophageal cancer		ISO	RGD:1323774	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:6039	uveal melanoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:720	normocytic anemia		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25741868
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:9001341	Chloracne		ISO	RGD:1323774	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082809	NT5C3A	5'-nucleotidase, cytosolic IIIA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:11240	appendiceal neoplasm	severity	ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:appendix, mucosa (human)	PMID:16794389|REF_RGD_ID:9590083
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:25071868|REF_RGD_ID:9590074
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:3070	high grade glioma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:687	hepatoblastoma		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:12935928|REF_RGD_ID:9590075
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9002669	Hypoxia		ISO	RGD:71094	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:hippocampus (rat)	PMID:24893663|REF_RGD_ID:9590077
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9004109	Intestinal Carcinoid Tumors		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestinal mucosa (human)	PMID:16424981|REF_RGD_ID:9590082
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737279	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon (human)	PMID:12384809|REF_RGD_ID:9590076
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082829	NAP1L1	nucleosome assembly protein 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1602227	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:7240710	20250423	OMIM			
12082871	LOC475708	STAGA complex 65 subunit gamma	gene	DOID:9009324	FISCHER-ZIRNSAK PROGEROID SYNDROME		ISO	RGD:1602227	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fischer-Zirnsak progeroid syndrome	
12082903	MORN2	MORN repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12082903	MORN2	MORN repeat containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12082903	MORN2	MORN repeat containing 2	gene	DOID:3275	thymoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082903	MORN2	MORN repeat containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2303892	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082903	MORN2	MORN repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082903	MORN2	MORN repeat containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2303892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320447	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:1909	melanoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:3275	thymoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082912	REXO1	RNA exonuclease 1 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12082943	ZNF445	zinc finger protein 445	gene	DOID:10534	stomach cancer		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082943	ZNF445	zinc finger protein 445	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12082943	ZNF445	zinc finger protein 445	gene	DOID:1909	melanoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12082943	ZNF445	zinc finger protein 445	gene	DOID:3275	thymoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082943	ZNF445	zinc finger protein 445	gene	DOID:5041	esophageal cancer		ISO	RGD:1349162	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12082943	ZNF445	zinc finger protein 445	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082943	ZNF445	zinc finger protein 445	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082943	ZNF445	zinc finger protein 445	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12082943	ZNF445	zinc finger protein 445	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082943	ZNF445	zinc finger protein 445	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:17111197|REF_RGD_ID:10449410
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050745	diffuse large B-cell lymphoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	PMID:17712558|REF_RGD_ID:6893517
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050830	peripheral artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:transition:cds:g.677C>T (human)	PMID:16274479|REF_RGD_ID:6893659
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:20162297|REF_RGD_ID:8693343
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:16365753|REF_RGD_ID:10449416
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16410450
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19764075|REF_RGD_ID:4891157
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:9068941	20240815	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175|PMID:16681562|PMID:19646848
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke		ISO	RGD:733483	D	RGD:9068941	20240815	RGD		DNA:transition:cds:g.677C>T (human)	PMID:15652605|REF_RGD_ID:6893467
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0051061	stroke	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:missense mutation:cds:677C>T (human)	PMID:9840906|REF_RGD_ID:10449417
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733483	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060058	lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799656
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060326	myelomeningocele		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060770	dextro-looped transposition of the great arteries	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs1801133(human)	PMID:22868813|REF_RGD_ID:11565105
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0060903	thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10780318|REF_RGD_ID:10449414
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	PMID:23107469|REF_RGD_ID:10449419
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0070309	absence epilepsy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27713094
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:15022402|REF_RGD_ID:11565178
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:12797455|REF_RGD_ID:11565104
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10791559|REF_RGD_ID:6893455
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISO	RGD:1551392	D	RGD:9068941	20260521	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect		ISO	RGD:733483	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056169
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:8826441|REF_RGD_ID:11565102
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080177	hepatic veno-occlusive disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:24583625|REF_RGD_ID:14696752
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080178	mucositis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17488658
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A > C (human)	PMID:24488901|REF_RGD_ID:14696706
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17563923|REF_RGD_ID:14696748
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16518429
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19005482|REF_RGD_ID:6893635
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT | ClinVar Annotator: match by term: Thrombophilia due to thrombin defect	PMID:15048559|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:37972026
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10024	migraine with aura	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21635773|REF_RGD_ID:7387244
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10159	osteonecrosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:SNP: :677C>T (human)	PMID:9840906|REF_RGD_ID:10449417
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10283	prostate cancer		ISO	RGD:733483	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10534	stomach cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:missense mutation:cds:g.677C>T (human)	PMID:23183616|PMID:24615072|REF_RGD_ID:38501052|REF_RGD_ID:38501056
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10548	cardia cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	PMID:24615072|REF_RGD_ID:38501052
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10579	leukodystrophy		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy | ClinVar Annotator: match by term: leukodystrophy	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1059	intellectual disability		ISO	RGD:733483	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: : 677C>T, 1298A>C (human)	PMID:17558844|REF_RGD_ID:7387254
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1067	open-angle glaucoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:15808177|REF_RGD_ID:7387252
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1074	kidney failure		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:20433440|REF_RGD_ID:6893515
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:rs1801133(human)	PMID:22065928|REF_RGD_ID:7387224
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10907	microcephaly		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10908	hydrocephalus		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:22924497|REF_RGD_ID:10449403
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:20113291|REF_RGD_ID:10449420
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:22924497|REF_RGD_ID:10449403
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C,677C>T(human)	PMID:21819229|REF_RGD_ID:11565109
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1094	attention deficit hyperactivity disorder	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1298A>C(human)	PMID:21897766|REF_RGD_ID:11565107
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22747749
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		protein:missense mutation:cds:p.A222V (human)	PMID:17311259|REF_RGD_ID:6893597
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion, haplotype:cds:g.677C>T, g.1298A>C (human)	PMID:20146887|REF_RGD_ID:6893516
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:22126575|REF_RGD_ID:6893457
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:19837268|REF_RGD_ID:6893521
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11166	Human papillomavirus infectious disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:23444906|REF_RGD_ID:38501058
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition: :677C>T (human)	PMID:12221667|REF_RGD_ID:10449395
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11512	Budd-Chiari syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:26238013|REF_RGD_ID:11537993
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11664	nephrosclerosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:21613384|REF_RGD_ID:6893469
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11695	portal vein thrombosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|PMID:27221722|REF_RGD_ID:14696705|REF_RGD_ID:14696749
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11713	diabetic angiopathy		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16681562
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:11836	clubfoot		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16936070
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1205	allergic disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16766537
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:22411997|REF_RGD_ID:10449409
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12134	factor VIII deficiency	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:22411997|REF_RGD_ID:10449409
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1227	neutropenia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12336	male infertility	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T(human)	PMID:16247718|REF_RGD_ID:11565106
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:20941748|REF_RGD_ID:7387246
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:12849	autistic disorder		ISO	RGD:733483	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16958597|PMID:25050994
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:12187094|REF_RGD_ID:1580585
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:13001	carotid stenosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs1801133, c.677C>T, p.A222V, in men only	PMID:15748240|REF_RGD_ID:5509914
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1324	lung cancer		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:13550	angle-closure glaucoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T,1298A>C(human)	PMID:19936026|REF_RGD_ID:7387250
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:13938	amenorrhea		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:14018	alcoholic liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|REF_RGD_ID:14696749
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16353284|PMID:16489479|PMID:16845273|PMID:17431899
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:14250	Down syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	PMID:16489479|REF_RGD_ID:11565177
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:14330	Parkinson's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30726997
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1459	hypothyroidism		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:7990714|REF_RGD_ID:6893690
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1588	thrombocytopenia	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :677C>T, 1793G>A (human)	PMID:23498762|REF_RGD_ID:10449418
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1596	depressive disorder		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1682	congenital heart disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16524890
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C(human)	PMID:23289804|REF_RGD_ID:10449405
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:24250697|REF_RGD_ID:10449421
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1727	retinal vein occlusion	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:10485556|REF_RGD_ID:7387256
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1749	squamous cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17627246|REF_RGD_ID:6893580
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:178	vascular disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19646848
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :677C>T (human)	PMID:16737574|REF_RGD_ID:2317120
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1826	epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1827	generalized epilepsy		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic; DNA:transversion:cds:g.1298A>C (human)	PMID:17899317|REF_RGD_ID:6893579
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:1984	rectal benign neoplasm	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21865946|REF_RGD_ID:6893664
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	no_association	ISO	RGD:733483	D	RGD:9068941	20200820	RGD		DNA:missense mutations:cds:g.1298A>C, g.2756A>G	PMID:18222012|REF_RGD_ID:38508898
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200820	RGD		DNA:transition:cds:g.677C>T (human)	PMID:18222012|REF_RGD_ID:38508898
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2154	nephroblastoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19346876|REF_RGD_ID:6893546
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2316	brain ischemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15534175
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19391036|PMID:25007187
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2355	anemia	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma; DNA:SNP:: rs1801133(human)	PMID:25007187|REF_RGD_ID:11080979
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2388	renal artery disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:16760910|REF_RGD_ID:2313876
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:9068941	20200730	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2452	thrombophilia		ISO	RGD:733483	D	RGD:9068941	20200730	RGD		associated with Liver Cirrhosis, Biliary;DNA:SNP: :677C>T (human)	PMID:16570355|REF_RGD_ID:10449396
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2671	transitional cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:21046286|REF_RGD_ID:6893477
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2841	asthma		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:20456312|REF_RGD_ID:4891145
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2921	glomerulonephritis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:22111818|REF_RGD_ID:6893468
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:2987	familial Mediterranean fever	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:missense mutations:cds:g.677C>T (rs1801133), g.1298A>C (rs1801131) (human)	PMID:28543752|REF_RGD_ID:38501050
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3021	acute kidney failure		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17387702
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3070	high grade glioma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:25736335|PMID:25741868|PMID:28492532|PMID:31068897
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:319	spinal cord disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16361298
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:326	ischemia	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Retinal Vein Occlusion;DNA:SNP:cds:677C>T(human)	PMID:17719079|REF_RGD_ID:7387251
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3312	bipolar disorder		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17074966
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:21868135|REF_RGD_ID:11565173
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:21128869|REF_RGD_ID:11565111
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3347	osteosarcoma	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19159907|REF_RGD_ID:6893634
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:15648053|REF_RGD_ID:1580579
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:12387655|REF_RGD_ID:6893453
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20231026	RGD		DNA:SNPs: (rs1801133, rs4846049) (Human)	PMID:24315498|REF_RGD_ID:401850782
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3526	cerebral infarction		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10929044|REF_RGD_ID:1580590
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:3572	intracranial sinus thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:37	skin disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17548696
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:409	liver disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16877991
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4247	coronary restenosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489563
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:missense mutation:cds:g.1298A>C (human)	PMID:27771518|REF_RGD_ID:38501051
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A222V (rs1801133) (human)	PMID:18098291|REF_RGD_ID:6893654
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:20039875|REF_RGD_ID:6893632
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4467	clear cell renal cell carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:21489764|REF_RGD_ID:6893474
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:4947	cholangiocarcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:17201138|REF_RGD_ID:2317119
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5082	liver cirrhosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25987440|REF_RGD_ID:14696749
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		protein:missense mutation:cds:p.A222V (human)	PMID:17533396|REF_RGD_ID:4891158
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:15048559|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:37972026
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:733483	D	RGD:9068941	20260813	RGD		DNA:transition:cds:g.677C>T (human)	PMID:16172608|REF_RGD_ID:6893466
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:557	kidney disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5614	eye disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:SNP:cds:677C>T(human)	PMID:16299146|REF_RGD_ID:7387241
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5679	retinal disease		ISO	RGD:1551392	D	RGD:9068941	20200609	RGD			PMID:20532821|REF_RGD_ID:7387239
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10090925|REF_RGD_ID:10449412
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic; DNA:transition:cds:g.677C>T rs1801133 (human)	PMID:19272686|REF_RGD_ID:6893548
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:607	paraplegia		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:61	mitral valve disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		associated with rheumatic heart disease;DNA:SNP:cds:677C>T (human)	PMID:26813460|REF_RGD_ID:11537145
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:615	leukopenia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:630	genetic disease		ISO	RGD:733483	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:6364	migraine	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21635773|REF_RGD_ID:7387244
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:6419	tetralogy of Fallot	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs1801133(human)	PMID:22868813|REF_RGD_ID:11565105
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:674	cleft palate		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:23996892|REF_RGD_ID:14696704
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	onset	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C(human)	PMID:19035314|REF_RGD_ID:14696707
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :677C>T, 1298A>C(human)	PMID:17503006|REF_RGD_ID:14696703
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17659576|REF_RGD_ID:14696708
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		DNA:SNP:cds:677C>T (human)	PMID:25060515|REF_RGD_ID:42722610
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22104130
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:23685257|REF_RGD_ID:7387222
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:74	hematopoietic system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19159907
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17398378|REF_RGD_ID:6893584
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:77	gastrointestinal system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:25664255|REF_RGD_ID:14696732
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19520069|REF_RGD_ID:6893523
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:14737040|REF_RGD_ID:6893524
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:19520684|REF_RGD_ID:6893522
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transitions, transversion, haplotype:cds:g.677C>T, g.1298A>C, g.1793G>A (human)	PMID:17899317|REF_RGD_ID:6893579
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:g.677C>T (human)	PMID:23595572|REF_RGD_ID:7244284
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7997	thyrotoxicosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18941937
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:7990714|REF_RGD_ID:6893690
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8029	sporadic breast cancer	no_association	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		DNA:missense mutations:cds:g.677C>T, g.1298A>T (human)	PMID:28330681|REF_RGD_ID:38501055
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:83	cataract	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: : 677C>T, 1298A>C (human)	PMID:16310481|REF_RGD_ID:7387253
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17156840|REF_RGD_ID:10449408
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:863	nervous system disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:865	vasculitis		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8725	vascular dementia		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8736	smallpox	treatment	ISO	RGD:733483	D	RGD:9068941	20210305	RGD		DNA:SNP:exon:rs1801133(human)	PMID:18454680|REF_RGD_ID:42722608
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8778	Crohn's disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28002332
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:9040583|REF_RGD_ID:6893525
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17350979
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733483	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:18505952|PMID:21347786
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000326	Thrombotic Microangiopathies	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19448163|REF_RGD_ID:6893633
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000343	Vision Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000528	Coronary Disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16792904
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000892	Fetal Distress		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704422
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:1309952	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001542	Albuminuria	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:22554825|REF_RGD_ID:6893631
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12840091|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24908438|PMID:24997712|PMID:25007187|PMID:25079578|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27768236|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31870219|PMID:32230794|PMID:32451826|PMID:32612964|PMID:32695297|PMID:33089527|PMID:3347350|PMID:34015165|PMID:3580562|PMID:6381059|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11418485|PMID:11710708|PMID:11781870|PMID:11916316|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12915598|PMID:15534175|PMID:15565101|PMID:16199547|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17576681|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18854913|PMID:19031955|PMID:19648163|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22695967|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24033266|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30212743|PMID:30684021|PMID:31069529|PMID:32005694|PMID:32161077|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32612964|PMID:32695297|PMID:32880657|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34657180|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39571660|PMID:40260059|PMID:7647779|PMID:7726158|PMID:7920641|PMID:8837319|PMID:8903338|PMID:8940272|PMID:9133512|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9781030|PMID:9789068|PMID:9798595
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001648	Methylenetetrahydrofolate Reductase Deficiency		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency | ClinVar Annotator: match by term: MTHFR-related condition	PMID:10551815|PMID:10679944|PMID:10767000|PMID:10923034|PMID:11916316|PMID:12673793|PMID:12733064|PMID:15534175|PMID:16199547|PMID:16272757|PMID:17409006|PMID:17576681|PMID:18523009|PMID:18854913|PMID:20356773|PMID:20490923|PMID:21131308|PMID:21480888|PMID:21778025|PMID:22695967|PMID:22887477|PMID:22947400|PMID:23526309|PMID:24033266|PMID:24797679|PMID:24997712|PMID:25024447|PMID:25079578|PMID:25162892|PMID:25736335|PMID:25741868|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27046515|PMID:27118298|PMID:27743313|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28645778|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29722429|PMID:30212743|PMID:30687093|PMID:30887117|PMID:31068897|PMID:31069529|PMID:31130284|PMID:31562900|PMID:32005694|PMID:32038468|PMID:32161077|PMID:32289814|PMID:32411386|PMID:32451826|PMID:32533987|PMID:32722525|PMID:32880657|PMID:33000330|PMID:33089527|PMID:33125268|PMID:33290257|PMID:33502066|PMID:33571559|PMID:33914258|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34426522|PMID:34657180|PMID:34707639|PMID:34737766|PMID:34845156|PMID:34983810|PMID:35008593|PMID:35018185|PMID:35322348|PMID:3535955|PMID:35359558|PMID:35499206|PMID:35568357|PMID:35578252|PMID:36567323|PMID:36813871|PMID:37239340|PMID:37291213|PMID:37440674|PMID:37489029|PMID:38610036|PMID:39322052|PMID:39571660|PMID:40260059|PMID:7726158|PMID:7920641|PMID:8940272|PMID:9536098|PMID:9781030
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:7240710	20260812	OMIM			
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive | ClinVar Annotator: match by term: Neural tube defects, folate-sensitive, susceptibility to	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10551815|PMID:10677336|PMID:10679944|PMID:10732818|PMID:10767000|PMID:10869114|PMID:10923034|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11916316|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12673793|PMID:12733064|PMID:12796225|PMID:12915598|PMID:15048559|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16199547|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17409006|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17576681|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18523009|PMID:18583979|PMID:18854913|PMID:19031955|PMID:19648163|PMID:19810817|PMID:20154341|PMID:20236116|PMID:20356773|PMID:20472929|PMID:20490923|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21131308|PMID:21270786|PMID:21480888|PMID:21534867|PMID:21644011|PMID:21778025|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22887477|PMID:22947400|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23526309|PMID:23648444|PMID:24241962|PMID:24797679|PMID:24997712|PMID:25007187|PMID:25024447|PMID:25079578|PMID:25110820|PMID:25162892|PMID:25177243|PMID:25227144|PMID:25736335|PMID:25741868|PMID:25778468|PMID:25856670|PMID:26025547|PMID:26872964|PMID:26898294|PMID:27104192|PMID:27118298|PMID:27217051|PMID:27399166|PMID:27743313|PMID:27781293|PMID:27981572|PMID:27992285|PMID:28241805|PMID:28468868|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29246599|PMID:29284203|PMID:29391032|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31068897|PMID:31069529|PMID:32161077|PMID:32451826|PMID:32612964|PMID:32695297|PMID:32939339|PMID:33089527|PMID:33125268|PMID:3347350|PMID:34015165|PMID:34214447|PMID:34347262|PMID:34845156|PMID:35008593|PMID:35322348|PMID:35499206|PMID:35578252|PMID:36901693|PMID:37489029|PMID:37972026|PMID:39825153|PMID:7564788|PMID:7647779|PMID:7726158|PMID:7741859|PMID:7920641|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8940272|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9536098|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9781030|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:733483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:10679944|PMID:10767000|PMID:15048559|PMID:16199547|PMID:17576681|PMID:20236116|PMID:25079578|PMID:25736335|PMID:25741868|PMID:26872964|PMID:27743313|PMID:28492532|PMID:29246599|PMID:31068897|PMID:33089527|PMID:37972026|PMID:9536098|PMID:9781030
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:18280442|REF_RGD_ID:6893576
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:transition:cds:g.677C>T (human)	PMID:14737040|REF_RGD_ID:6893524
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17967524
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002557	Inherited Blood Coagulation Disease		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17493413
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002569	Overweight		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733483	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002785	Vitamin B Deficiency		ISO	RGD:1309952	D	RGD:9068941	20251218	RGD		protein:decreased expression, decreased activity:liver	PMID:15845641|REF_RGD_ID:1359026
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284371
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:25207100|REF_RGD_ID:10449399
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003505	Venous Thromboembolism	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T, 1298A>C (human)	PMID:25207100|REF_RGD_ID:10449399
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003758	Banti's Syndrome	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)	PMID:18685811|REF_RGD_ID:10755472
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16275406
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T(human)	PMID:20798492|REF_RGD_ID:7387236
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:16572609|REF_RGD_ID:7387240
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003817	Sudden Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:677C>T,1298A>C(human)	PMID:15775757|REF_RGD_ID:7387243
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10929044|REF_RGD_ID:1580590
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition: :677C>T (human)	PMID:12442281|REF_RGD_ID:10449394
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:10792297|REF_RGD_ID:6893655
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:transition, transversion:cds:g.677C>T rs1801133, g.1298A>C rs1801131 (human)	PMID:22707612|REF_RGD_ID:6893602
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9004538	Hearing Loss	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:677C>T(human)	PMID:21385350|REF_RGD_ID:7387225
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9004563	Maxillofacial Abnormalities		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16832597
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9004616	Left Ventricular Hypertrophy	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:25664255|REF_RGD_ID:14696732
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389614
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005236	Drug Eruptions		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		protein:decreased activity:kidney (rat)	PMID:9836532|REF_RGD_ID:6893689
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005695	Malnutrition		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16709328
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9005749	Necrosis		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14723717
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006096	Uterine Cervical Dysplasia		ISO	RGD:733483	D	RGD:9068941	20250417	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303386
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:733483	D	RGD:9068941	20210305	RGD			PMID:19609317|REF_RGD_ID:42722609
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006262	Cytomegalovirus Infections	ameliorates	ISO	RGD:1551392	D	RGD:9068941	20210305	RGD			PMID:19609317|REF_RGD_ID:42722609
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006332	Vascular Calcification	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21394321|REF_RGD_ID:6893475
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:10477457|REF_RGD_ID:10449401
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :677C>T (human)	PMID:21984221|REF_RGD_ID:10449413
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006532	Hematologic Neoplasms	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:21984221|REF_RGD_ID:10449413
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:733483	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:15753437|PMID:16166815|PMID:17387702|PMID:17502830|PMID:18551038|PMID:19159907|PMID:19391036|PMID:19821069|PMID:21064136|PMID:25007187|PMID:26077125|PMID:40645457
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18551038|PMID:19648163
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with precursor lymphoblastic lymphoma/leukemia; DNA:SNP: :677C>T(human)	PMID:30545275|REF_RGD_ID:14696733
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007456	Female Infertility		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16679164
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C (human)	PMID:22047507|PMID:22882325|REF_RGD_ID:10449404|REF_RGD_ID:10449415
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007479	Habitual Abortions	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNP: :1298A>C (human)	PMID:19906129|REF_RGD_ID:10449411
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007573	Flatfoot		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007617	Conotruncal Cardiac Defects	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:c.677C>T,c.1298A>C (human)	PMID:12705333|REF_RGD_ID:11565174
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007661	Dwarfism		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17301261
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24384392
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008114	Helicobacter Infections	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200814	RGD		associated with stomach cancer;DNA:missense mutation:cds:g.677C>T (human)	PMID:20957490|PMID:23183616|REF_RGD_ID:38501056|REF_RGD_ID:38501057
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008214	Genu Valgum		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15608557|PMID:16512993|PMID:16985020|PMID:17047490|PMID:17087956|PMID:17245555|PMID:17350979|PMID:18676755|PMID:26858257
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008675	Dyskinesias		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17491230
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008887	Microvascular Angina		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:17491230|REF_RGD_ID:4891159
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16777985|PMID:17595805|PMID:28114181
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:16199547|PMID:25736335|PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:17156840|REF_RGD_ID:10449408
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:916	liver benign neoplasm	onset	ISO	RGD:1309952	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:22213190|REF_RGD_ID:6893663
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17180579|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21387541|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:24908438|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25303299|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:31870219|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:10196703|PMID:10323741|PMID:10440833|PMID:10677336|PMID:10732818|PMID:10869114|PMID:10930360|PMID:10958762|PMID:11121176|PMID:11140843|PMID:11395038|PMID:11418485|PMID:11590551|PMID:11710708|PMID:11742092|PMID:11752418|PMID:11781870|PMID:11807890|PMID:11863127|PMID:11888585|PMID:11929966|PMID:11938441|PMID:12080391|PMID:12095808|PMID:12154064|PMID:12165282|PMID:12196644|PMID:12221667|PMID:12356947|PMID:12383688|PMID:12384649|PMID:12387655|PMID:12400059|PMID:12406076|PMID:12428084|PMID:12453860|PMID:12529699|PMID:12560871|PMID:12796225|PMID:12915598|PMID:15054400|PMID:15103709|PMID:15154859|PMID:15173232|PMID:1522835|PMID:15534175|PMID:15543147|PMID:15565101|PMID:15704130|PMID:15729744|PMID:15806605|PMID:15808177|PMID:15951337|PMID:16172608|PMID:16244782|PMID:16365871|PMID:16402130|PMID:16432849|PMID:16470725|PMID:16501586|PMID:16712703|PMID:16800002|PMID:16870553|PMID:17284634|PMID:17350979|PMID:17436239|PMID:17488658|PMID:17512587|PMID:17543893|PMID:17726486|PMID:17898028|PMID:18381794|PMID:18458567|PMID:18583979|PMID:18704422|PMID:19031955|PMID:19648163|PMID:20154341|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25741905|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28514598|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7564788|PMID:7647779|PMID:7741859|PMID:8542260|PMID:8554053|PMID:8554066|PMID:8616944|PMID:8771990|PMID:8826441|PMID:8837319|PMID:8892013|PMID:8903338|PMID:8981967|PMID:8994411|PMID:9133512|PMID:9192280|PMID:9244205|PMID:9341863|PMID:9372726|PMID:9453374|PMID:9545395|PMID:9545406|PMID:9737770|PMID:9789068|PMID:9798595|PMID:9843036|PMID:9863598
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:733483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:11418485|PMID:11710708|PMID:11781870|PMID:11929966|PMID:12196644|PMID:12356947|PMID:12453860|PMID:12560871|PMID:12915598|PMID:15565101|PMID:16432849|PMID:16501586|PMID:16870553|PMID:17436239|PMID:17488658|PMID:17512587|PMID:18381794|PMID:18458567|PMID:19031955|PMID:19648163|PMID:20472929|PMID:20514079|PMID:20595278|PMID:20863444|PMID:21534867|PMID:21644011|PMID:21931346|PMID:22074251|PMID:22143415|PMID:22992668|PMID:23089671|PMID:23095111|PMID:23488607|PMID:23648444|PMID:24241962|PMID:25007187|PMID:25110820|PMID:25177243|PMID:25227144|PMID:25741868|PMID:25778468|PMID:27104192|PMID:27217051|PMID:27399166|PMID:27781293|PMID:27992285|PMID:28492532|PMID:28696419|PMID:29589488|PMID:29911750|PMID:30684021|PMID:32612964|PMID:32695297|PMID:7647779|PMID:8837319|PMID:8903338|PMID:9133512|PMID:9545395|PMID:9545406|PMID:9789068|PMID:9798595
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10459572|PMID:15226090|PMID:16317120|PMID:16397167|PMID:16411416|PMID:16575899|PMID:17387702|PMID:18234410|PMID:18551038|PMID:19204075|PMID:19646848
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutations:CDS:multiple (human)	PMID:10679944|REF_RGD_ID:1601421
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms; DNA:SNP: :677C>T (human)	PMID:12471611|REF_RGD_ID:10449400
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16470725
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9296	cleft lip	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c.677C>T(human)	PMID:27387868|REF_RGD_ID:11565179
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:9068941	20200813	RGD		DNA:transition:cds:g.677C>T (human)	PMID:9607212|REF_RGD_ID:38501049
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:19996639|REF_RGD_ID:6893653
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition, transversion:cds:g.677C>T, g.1298A>C (human)	PMID:16828193|REF_RGD_ID:6893657
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transition:cds:g.677C>T (human)	PMID:21186995|REF_RGD_ID:6893476
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:936	brain disease		ISO	RGD:733483	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9406	hypopituitarism		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T, 1298A>C(human)	PMID:21107737|REF_RGD_ID:10449406
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9452	steatotic liver disease		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic; DNA:transition:cds:g.677C>T (human)	PMID:15834927|REF_RGD_ID:1580580
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9477	pulmonary embolism		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19123085
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9538	multiple myeloma		ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:677C>T, 1298A>C (human)	PMID:24839819|REF_RGD_ID:10449397
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:733483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9663	aphthous stomatitis	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (rs1801133) (human)	PMID:23665953|REF_RGD_ID:10449402
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9744	type 1 diabetes mellitus	severity	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:transversion:cds:g.1298A>C (human)	PMID:18774994|REF_RGD_ID:6893652
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9849	Meniere's disease	susceptibility	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:SNPs: :677C>T(rs1801133),1298A>C(1801131)(human)	PMID:23484733|REF_RGD_ID:7387223
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:987	alopecia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:733483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16706930
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (p.A222V) (rs1801133) (human)	PMID:19923983|REF_RGD_ID:10449398
12082966	MTHFR	methylenetetrahydrofolate reductase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:733483	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:677C>T (human)	PMID:21644011|REF_RGD_ID:10449407
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:10534	stomach cancer		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:1115	sarcoma		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:12270	coloboma		ISO	RGD:731735	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma | ClinVar Annotator: match by term: ocular coloboma	PMID:15142123|PMID:23180570|PMID:24281366|PMID:25741868|PMID:28492532|PMID:2998465
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:12270	coloboma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ocular coloboma	PMID:25741868|PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:1324	lung cancer		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:13269	hereditary coproporphyria		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary coproporphyria	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ferrochelatase deficiency	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:1909	melanoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:3133	acute porphyria		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute Porphyria	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:3275	thymoma		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute intermittent porphyria | ClinVar Annotator: match by term: PBGD DEFICIENCY	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:4346	variegate porphyria		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PPOX deficiency | ClinVar Annotator: match by term: Variegate porphyria	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:731735	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:6039	uveal melanoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:630	genetic disease		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9002801	Recurrence		ISO	RGD:731735	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9002999	Microphthalmia/Coloboma 7		ISO	RGD:731735	D	RGD:7240710	20180130	OMIM			
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9002999	Microphthalmia/Coloboma 7		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 7 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 7	PMID:25741868|PMID:28492532|PMID:8969824
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9004435	Erythropoietic Protoporphyria 1		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Protoporphyria, erythropoietic, 1	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:731735	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9006892	Dyschromatosis Universalis Hereditaria 3		ISO	RGD:731735	D	RGD:7240710	20180130	OMIM			
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9006892	Dyschromatosis Universalis Hereditaria 3		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 | ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 3 | ClinVar Annotator: match by term: dyschromatosis universalis hereditaria 3	PMID:25741868|PMID:27151991|PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9008560	Pseudohyperkalemia, Familial, 2, due to Red Cell Leak		ISO	RGD:731735	D	RGD:7240710	20180130	OMIM			
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9008560	Pseudohyperkalemia, Familial, 2, due to Red Cell Leak		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK	PMID:25741868|PMID:28492532
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532|PMID:30271928
12082998	ABCB6	ATP binding cassette subfamily B member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:731735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532|PMID:30271928
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:3275	thymoma		ISO	RGD:736162	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083021	NUCKS1	nuclear casein kinase and cyclin dependent kinase substrate 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083031	FBXO31	F-box protein 31	gene	DOID:0050669	spastic cerebral palsy		ISO	RGD:1351564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic cerebral palsy	PMID:25741868|PMID:32989326|PMID:33675180
12083031	FBXO31	F-box protein 31	gene	DOID:0081209	autosomal recessive intellectual developmental disorder 45		ISO	RGD:1351564	D	RGD:7240710	20180130	OMIM			
12083031	FBXO31	F-box protein 31	gene	DOID:0081209	autosomal recessive intellectual developmental disorder 45		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FBXO31-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 45	PMID:24623382|PMID:25741868|PMID:32989326|PMID:33675180|PMID:35019165
12083031	FBXO31	F-box protein 31	gene	DOID:1115	sarcoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083031	FBXO31	F-box protein 31	gene	DOID:1324	lung cancer		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083031	FBXO31	F-box protein 31	gene	DOID:1909	melanoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083031	FBXO31	F-box protein 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083031	FBXO31	F-box protein 31	gene	DOID:3275	thymoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083031	FBXO31	F-box protein 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1351564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083031	FBXO31	F-box protein 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083031	FBXO31	F-box protein 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083031	FBXO31	F-box protein 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083031	FBXO31	F-box protein 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314439	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24088304|PMID:25741868|PMID:32335906
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:0110313	hypertrophic cardiomyopathy 7		ISO	RGD:1314439	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 7	PMID:25741868|PMID:30442288|PMID:38489124
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:24088304|PMID:25741868|PMID:30442288
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314439	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1314439	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9003566	Mesothelioma		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9004357	Spinal Muscular Atrophy, Infantile, James Type		ISO	RGD:1314439	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, infantile, James type	PMID:25741868
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9005789	Hypertrophic Cardiomyopathy 28		ISO	RGD:1314439	D	RGD:7240710	20210707	OMIM			
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9005789	Hypertrophic Cardiomyopathy 28		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 28 | ClinVar Annotator: match by term: FHOD3-related condition	PMID:24088304|PMID:25741868|PMID:28991257|PMID:30442288|PMID:30898215|PMID:30898216|PMID:31742804|PMID:32335906|PMID:33586461|PMID:34526680|PMID:35205353|PMID:38938358
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083046	FHOD3	formin homology 2 domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083078	MID2	midline 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083078	MID2	midline 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083078	MID2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:7240710	20180130	OMIM			
12083078	MID2	midline 2	gene	DOID:0112048	non-syndromic X-linked intellectual disability 101		ISO	RGD:1602493	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Intellectual disability, X-linked 101	PMID:25741868
12083078	MID2	midline 2	gene	DOID:10534	stomach cancer		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
12083078	MID2	midline 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12083078	MID2	midline 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083111	TSPO2	translocator protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1606125	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083111	TSPO2	translocator protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1606125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083111	TSPO2	translocator protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606125	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083119	CD160	CD160 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083119	CD160	CD160 molecule	gene	DOID:1909	melanoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083119	CD160	CD160 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083119	CD160	CD160 molecule	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12083119	CD160	CD160 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12083119	CD160	CD160 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	severity	ISO	RGD:61909	D	RGD:9068941	20241114	RGD			PMID:36653797|REF_RGD_ID:408395146
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:61909	D	RGD:9068941	20231019	RGD			PMID:26256083|REF_RGD_ID:11522097
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:10534	stomach cancer		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:10591	pre-eclampsia		ISO	RGD:733364	D	RGD:9068941	20231026	RGD		mRNA:altered expression:placenta, adipose tissue (human)	PMID:20655109|REF_RGD_ID:401850787
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:10591	pre-eclampsia	exacerbates	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		mRNA, protein:increased expression:placenta (human)	PMID:28352810|REF_RGD_ID:401842369
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:1115	sarcoma		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:13001	carotid stenosis		ISO	RGD:733364	D	RGD:9068941	20231005	RGD		mRNA:increased expression:carotid artery segment (human)	PMID:16311343|REF_RGD_ID:401827904
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:13580	cholestasis		ISO	RGD:733364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17256725
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:1909	melanoma		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:1936	atherosclerosis		ISO	RGD:733364	D	RGD:9068941	20231005	RGD		mRNA:increased expression:carotid artery segment (human)	PMID:15528463|REF_RGD_ID:401827901
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:62202	D	RGD:9068941	20231019	RGD			PMID:29593532|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842381
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:2377	multiple sclerosis		ISO	RGD:733364	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple sclerosis	PMID:27253448
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:3393	coronary artery disease		ISO	RGD:733364	D	RGD:9068941	20231019	RGD		associated with type 2 diabetes mellitus;mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:28871240|REF_RGD_ID:401850555
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)	PMID:21903943|REF_RGD_ID:401842365
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:5425	ovarian hyperstimulation syndrome		ISO	RGD:62202	D	RGD:9068941	20220825	MouseDO		OMIM:608115	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)	PMID:21903943|REF_RGD_ID:401842365
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:6713	cerebrovascular disease	susceptibility	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		ischemic cerebrovascular disease;DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)	PMID:21903943|REF_RGD_ID:401842365
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733364	D	RGD:9068941	20231005	RGD		mRNA:increased expression:abdominal aorta (human)	PMID:16311343|REF_RGD_ID:401827904
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9000528	Coronary Disease	exacerbates	ISO	RGD:733364	D	RGD:9068941	20231005	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:16252156|REF_RGD_ID:401827902
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9000528	Coronary Disease	exacerbates	ISO	RGD:733364	D	RGD:9068941	20231026	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:19211025|REF_RGD_ID:401850788
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:62202	D	RGD:9068941	20200609	RGD			PMID:21859686|REF_RGD_ID:6480864
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61909	D	RGD:9068941	20231005	RGD		DNA, mRNA, protein:hypomethylation, increased expression:promoter, heart	PMID:21136146|REF_RGD_ID:13831298
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:61909	D	RGD:9068941	20230914	RGD			PMID:27821167|REF_RGD_ID:401799622
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9006778	Carotid Atherosclerosis	exacerbates	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		DNA:silent mutation:exon 4:c.297C>T (rs2279238) (human)	PMID:35907563|REF_RGD_ID:401842367
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:733364	D	RGD:9068941	20231019	RGD		DNA:SNPs, haplotype:promoter:c.-115G>A, c.-840C>A (rs12221497, rs61896015) (human)	PMID:21903943|REF_RGD_ID:401842365
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17256725
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733364	D	RGD:9068941	20231019	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:28871240|REF_RGD_ID:401850555
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9452	steatotic liver disease		ISO	RGD:733364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23651738
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9970	obesity		ISO	RGD:733364	D	RGD:9068941	20200609	RGD		DNA:polymorphism:multiple	PMID:17108812|REF_RGD_ID:1626248
12083136	NR1H3	nuclear receptor subfamily 1 group H member 3	gene	DOID:9970	obesity	disease_progression	ISO	RGD:61909	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
12083177	COQ8B	coenzyme Q8B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083177	COQ8B	coenzyme Q8B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:0060249	scoliosis		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12083177	COQ8B	coenzyme Q8B	gene	DOID:0080391	nephrotic syndrome type 9		ISO	RGD:1322771	D	RGD:7240710	20180130	OMIM			
12083177	COQ8B	coenzyme Q8B	gene	DOID:0080391	nephrotic syndrome type 9		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COQ8B-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 9 | ClinVar Annotator: match by term: Nephrotic syndrome, type 9	PMID:16199547|PMID:24270420|PMID:25741868|PMID:28204945|PMID:28298181|PMID:28337616|PMID:28405841|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29259860|PMID:29382012|PMID:30076350|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:32957916|PMID:33413146|PMID:33532864|PMID:34172776|PMID:34605136|PMID:35483523|PMID:36177613|PMID:36532926
12083177	COQ8B	coenzyme Q8B	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1322771	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:28492532|PMID:33084234
12083177	COQ8B	coenzyme Q8B	gene	DOID:1074	kidney failure		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
12083177	COQ8B	coenzyme Q8B	gene	DOID:1115	sarcoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1322771	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:32543055
12083177	COQ8B	coenzyme Q8B	gene	DOID:1324	lung cancer		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:1596	depressive disorder		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12083177	COQ8B	coenzyme Q8B	gene	DOID:1909	melanoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083177	COQ8B	coenzyme Q8B	gene	DOID:2030	anxiety disorder		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12083177	COQ8B	coenzyme Q8B	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	
12083177	COQ8B	coenzyme Q8B	gene	DOID:3275	thymoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:423	myopathy		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
12083177	COQ8B	coenzyme Q8B	gene	DOID:5041	esophageal cancer		ISO	RGD:1322771	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12083177	COQ8B	coenzyme Q8B	gene	DOID:557	kidney disease		ISO	RGD:1322771	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:5679	retinal disease		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12083177	COQ8B	coenzyme Q8B	gene	DOID:630	genetic disease		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24270420|PMID:25741868|PMID:28204945|PMID:28454995|PMID:28492532|PMID:29194833|PMID:29382012|PMID:31130284|PMID:31937884|PMID:32543055|PMID:32604935|PMID:32859164|PMID:34605136|PMID:36177613|PMID:36532926
12083177	COQ8B	coenzyme Q8B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083177	COQ8B	coenzyme Q8B	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1322771	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28204945|PMID:28492532|PMID:31328266|PMID:31937884
12083177	COQ8B	coenzyme Q8B	gene	DOID:783	end stage renal disease		ISO	RGD:1322771	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: end stage renal failure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12083177	COQ8B	coenzyme Q8B	gene	DOID:9000053	Headache		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9000495	Tremor		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9000641	Pain		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9001733	Tinnitus		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9006617	Fatigue		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	
12083177	COQ8B	coenzyme Q8B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12083211	HDAC11	histone deacetylase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083211	HDAC11	histone deacetylase 11	gene	DOID:1115	sarcoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:1909	melanoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083211	HDAC11	histone deacetylase 11	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12083211	HDAC11	histone deacetylase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1316706	D	RGD:9068941	20220825	MouseDO		OMIM:300486 | OMIM:300860 | OMIM:309583	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizure	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:535	sleep disorder		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:630	genetic disease		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:27939640|PMID:28490743|PMID:29758562|PMID:32010779
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:630	genetic disease		ISO	RGD:1316705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:29758562|PMID:32010779
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25741868|PMID:32652122|PMID:39837771
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316705	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316705	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1316705	D	RGD:7240710	20190315	OMIM			
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9008892	Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis		ISO	RGD:1316705	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRPF1-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and ptosis | ClinVar Annotator: match by term: intellectual developmental disorder with dysmorphic facies and ptosis	PMID:25741868|PMID:27939639|PMID:27939640|PMID:28492532|PMID:29758562|PMID:31020800|PMID:32010779|PMID:35243762|PMID:37190896|PMID:39837771
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083229	BRPF1	bromodomain and PHD finger containing 1	gene	DOID:9970	obesity		ISO	RGD:1316705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12083257	MYO18B	myosin XVIIIB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12083257	MYO18B	myosin XVIIIB	gene	DOID:0060249	scoliosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12083257	MYO18B	myosin XVIIIB	gene	DOID:0060260	ptosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:0080592	Klippel-Feil syndrome 4		ISO	RGD:1349934	D	RGD:7240710	20191225	OMIM			
12083257	MYO18B	myosin XVIIIB	gene	DOID:0080592	Klippel-Feil syndrome 4		ISO	RGD:1349934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM | ClinVar Annotator: match by term: Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism | ClinVar Annotator: match by term: Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism | ClinVar Annotator: match by term: MYO18B-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25748484|PMID:27858739|PMID:28492532|PMID:32184166|PMID:32637634|PMID:9536098
12083257	MYO18B	myosin XVIIIB	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1349934	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Klippel Feil syndrome	PMID:25741868|PMID:25748484|PMID:28492532|PMID:32184166|PMID:32637634
12083257	MYO18B	myosin XVIIIB	gene	DOID:10534	stomach cancer		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083257	MYO18B	myosin XVIIIB	gene	DOID:1059	intellectual disability		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:10969	hemiplegia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:25741868
12083257	MYO18B	myosin XVIIIB	gene	DOID:1115	sarcoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:11155	hypohidrosis		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:12849	autistic disorder		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:1909	melanoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:3275	thymoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:5041	esophageal cancer		ISO	RGD:1349934	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083257	MYO18B	myosin XVIIIB	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:630	genetic disease		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25748484|PMID:28492532|PMID:32184166|PMID:32637634
12083257	MYO18B	myosin XVIIIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083257	MYO18B	myosin XVIIIB	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29054765
12083257	MYO18B	myosin XVIIIB	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:9003566	Mesothelioma		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17294804
12083257	MYO18B	myosin XVIIIB	gene	DOID:9003760	Myalgia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12083257	MYO18B	myosin XVIIIB	gene	DOID:9005077	Joint Instability		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1349934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29054765
12083257	MYO18B	myosin XVIIIB	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083257	MYO18B	myosin XVIIIB	gene	DOID:9007661	Dwarfism		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:9008023	Memory Disorders		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12083257	MYO18B	myosin XVIIIB	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
12083257	MYO18B	myosin XVIIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083257	MYO18B	myosin XVIIIB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083257	MYO18B	myosin XVIIIB	gene	DOID:9452	steatotic liver disease		ISO	RGD:1349934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:0051064	left ventricular failure		ISO	RGD:1348160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30703374
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:10763	hypertension		ISO	RGD:1348160	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: therapeutic	PMID:32165127
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1348160	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1348160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30703374
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1348160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1348160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30703374
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12083307	FNDC5	fibronectin type III domain containing 5	gene	DOID:9005372	Inflammation		ISO	RGD:1348160	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: therapeutic	PMID:32165127
12083325	ZNF142	zinc finger protein 142	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083325	ZNF142	zinc finger protein 142	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083325	ZNF142	zinc finger protein 142	gene	DOID:1059	intellectual disability		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:31036918
12083325	ZNF142	zinc finger protein 142	gene	DOID:3275	thymoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083325	ZNF142	zinc finger protein 142	gene	DOID:4362	cervical cancer		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083325	ZNF142	zinc finger protein 142	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1320100	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12083325	ZNF142	zinc finger protein 142	gene	DOID:5041	esophageal cancer		ISO	RGD:1320100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083325	ZNF142	zinc finger protein 142	gene	DOID:543	dystonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31036918
12083325	ZNF142	zinc finger protein 142	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083325	ZNF142	zinc finger protein 142	gene	DOID:630	genetic disease		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30389958|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198
12083325	ZNF142	zinc finger protein 142	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083325	ZNF142	zinc finger protein 142	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	PMID:25741868|PMID:31036918
12083325	ZNF142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:7240710	20190612	OMIM			
12083325	ZNF142	zinc finger protein 142	gene	DOID:9000239	Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements		ISO	RGD:1320100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition | ClinVar Annotator: match by term: neurodevelopmental disorder with impaired speech and hyperkinetic movements	PMID:25741868|PMID:27066578|PMID:30389958|PMID:31036918|PMID:31345219|PMID:34826259|PMID:35616059|PMID:35618198|PMID:38026511
12083325	ZNF142	zinc finger protein 142	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12083325	ZNF142	zinc finger protein 142	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083325	ZNF142	zinc finger protein 142	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31036918
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1604359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:1115	sarcoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:1324	lung cancer		ISO	RGD:1604359	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:3070	high grade glioma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:3275	thymoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:4362	cervical cancer		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083343	ARID4B	AT-rich interaction domain 4B	gene	DOID:9256	colorectal cancer		ISO	RGD:1604359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083380	LRCH4	leucine rich repeats and calponin homology domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:0080284	developmental and epileptic encephalopathy 57		ISO	RGD:1351112	D	RGD:7240710	20190315	OMIM			
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:0080284	developmental and epileptic encephalopathy 57		ISO	RGD:1351112	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 57 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 57 | ClinVar Annotator: match by term: KCNT2-related disorder | ClinVar Annotator: match by term: developmental and epileptic encephalopathy, 57	PMID:24166878|PMID:25741868|PMID:26724206|PMID:29069600|PMID:29314763|PMID:29740868|PMID:32038177|PMID:37062836|PMID:38510274
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Profound intellectual disability	PMID:25741868
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:1324	lung cancer		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:1826	epilepsy		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:1909	melanoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:630	genetic disease		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29740868|PMID:37062836
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:1351112	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: KCNT2-related condition	PMID:25741868|PMID:29069600
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	
12083408	KCNT2	potassium sodium-activated channel subfamily T member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1351112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12083441	CDCA3	cell division cycle associated 3	gene	DOID:0080600	COVID-19		ISO	RGD:1345166	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12083441	CDCA3	cell division cycle associated 3	gene	DOID:1324	lung cancer		ISO	RGD:1345166	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083441	CDCA3	cell division cycle associated 3	gene	DOID:4362	cervical cancer		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083441	CDCA3	cell division cycle associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083441	CDCA3	cell division cycle associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345166	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12083441	CDCA3	cell division cycle associated 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:1909	melanoma		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083455	CFAP92	cilia and flagella associated protein 92 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083492	GPR19	G protein-coupled receptor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1344105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083492	GPR19	G protein-coupled receptor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083492	GPR19	G protein-coupled receptor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737555	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18342293
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:1324	lung cancer		ISO	RGD:737555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:4362	cervical cancer		ISO	RGD:737555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737555	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18342293
12083514	YWHAH	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:7240710	20190315	OMIM			
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:0070375	developmental and epileptic encephalopathy 64		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 64 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 64 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 64 | ClinVar Annotator: match by term: RHOBTB2-related condition	PMID:18298893|PMID:229276004|PMID:25741868|PMID:26740508|PMID:28492532|PMID:28518168|PMID:28856709|PMID:29276004|PMID:29768694|PMID:32461654|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320529	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18298893|PMID:25741868|PMID:28492532|PMID:28856709|PMID:29276004|PMID:29768694|PMID:31780880|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1320529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1320529	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37165955
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:18835386|PMID:25741868|PMID:28492532|PMID:29276004|PMID:29768694|PMID:31780880|PMID:32337345|PMID:32581362|PMID:32810689|PMID:33504645|PMID:39831600
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:37165955|PMID:37489029
12083521	RHOBTB2	Rho related BTB domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:1115	sarcoma		ISO	RGD:1605639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605639	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605639	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:28722770
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083594	ZSCAN31	zinc finger and SCAN domain containing 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083635	MCRIP2	MAPK regulated corepressor interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083635	MCRIP2	MAPK regulated corepressor interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083635	MCRIP2	MAPK regulated corepressor interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083635	MCRIP2	MAPK regulated corepressor interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083635	MCRIP2	MAPK regulated corepressor interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:10534	stomach cancer		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:1115	sarcoma		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:2661	myoepithelioma		ISO	RGD:69456	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:69456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083657	PACSIN2	protein kinase C and casein kinase substrate in neurons 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083692	TLR9	toll like receptor 9	gene	DOID:0050127	sinusitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		Acute Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)	PMID:18416964|REF_RGD_ID:5130708
12083692	TLR9	toll like receptor 9	gene	DOID:0050127	sinusitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		Chronic Sinusitis; protein:decreased expression:nasal mucosa, epithelial cell (human)	PMID:17283572|REF_RGD_ID:5130870
12083692	TLR9	toll like receptor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083692	TLR9	toll like receptor 9	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17686871|REF_RGD_ID:7794851
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:intron, exon:g.+1174G>A, g.+1635C>T (rs352139, rs352140) (human, Chinese)	PMID:20497632|REF_RGD_ID:7246884
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus (human)	PMID:19578108|REF_RGD_ID:7246896
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:23467932|REF_RGD_ID:7245987
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	no_association	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:snps:promoter, intron:g.-1486T>C, g.+1174A>G (rs187084, rs352139) (human, North Indian)	PMID:22787315|REF_RGD_ID:7245989
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (mouse)	PMID:17469139|REF_RGD_ID:7246911
12083692	TLR9	toll like receptor 9	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease	PMID:21127878|REF_RGD_ID:7246897
12083692	TLR9	toll like receptor 9	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1346715	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human, mouse)	PMID:28687713|REF_RGD_ID:18337289
12083692	TLR9	toll like receptor 9	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human, mouse)	PMID:28687713|REF_RGD_ID:18337289
12083692	TLR9	toll like receptor 9	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:serum, liver (mouse)	PMID:24650018|REF_RGD_ID:18337469
12083692	TLR9	toll like receptor 9	gene	DOID:0080600	COVID-19		ISO	RGD:1346715	D	RGD:9068941	20260117	RGD		mRNA:increased expression:blood	PMID:33780352|REF_RGD_ID:630350570
12083692	TLR9	toll like receptor 9	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas (rat)	PMID:18376319|REF_RGD_ID:5130184
12083692	TLR9	toll like receptor 9	gene	DOID:10113	trypanosomiasis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:18565585|REF_RGD_ID:18337478
12083692	TLR9	toll like receptor 9	gene	DOID:10223	dermatomyositis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:muscle	PMID:19953283|REF_RGD_ID:7794747
12083692	TLR9	toll like receptor 9	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:18426877|REF_RGD_ID:5130707
12083692	TLR9	toll like receptor 9	gene	DOID:10485	esophageal atresia		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:10533	viral pneumonia		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C rs5743836 (human)	PMID:19539691|REF_RGD_ID:5130766
12083692	TLR9	toll like receptor 9	gene	DOID:10690	mastitis	resistance	ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland (rat)	PMID:17321466|REF_RGD_ID:5130197
12083692	TLR9	toll like receptor 9	gene	DOID:11166	Human papillomavirus infectious disease	resistance	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cervix epithelium (human)	PMID:20473890|REF_RGD_ID:5129102
12083692	TLR9	toll like receptor 9	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1346715	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
12083692	TLR9	toll like receptor 9	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:conjunctiva:	PMID:16023216|REF_RGD_ID:7794849
12083692	TLR9	toll like receptor 9	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17925007|REF_RGD_ID:5130709
12083692	TLR9	toll like receptor 9	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, peripheral blood mononuclear cell (human)	PMID:23026026|REF_RGD_ID:18337477
12083692	TLR9	toll like receptor 9	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with kidney transplant; DNA:snp:promoter:g.-1237C>T rs5743836 (human)	PMID:20604744|REF_RGD_ID:7246901
12083692	TLR9	toll like receptor 9	gene	DOID:13139	crescentic glomerulonephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20847283|REF_RGD_ID:7246899
12083692	TLR9	toll like receptor 9	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:18936185|REF_RGD_ID:5130858
12083692	TLR9	toll like receptor 9	gene	DOID:13166	allergic bronchopulmonary aspergillosis	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:18275280|REF_RGD_ID:5130863
12083692	TLR9	toll like receptor 9	gene	DOID:13620	patent foramen ovale		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, neutrophil	PMID:18433921|REF_RGD_ID:5130706
12083692	TLR9	toll like receptor 9	gene	DOID:1485	cystic fibrosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:20837493|REF_RGD_ID:5130208
12083692	TLR9	toll like receptor 9	gene	DOID:1574	alcohol use disorder		ISO	RGD:1346715	D	RGD:9068941	20250125	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:34415075|REF_RGD_ID:597538499
12083692	TLR9	toll like receptor 9	gene	DOID:1612	breast cancer		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, epithelial cell (human)	PMID:18922969|REF_RGD_ID:7246913
12083692	TLR9	toll like receptor 9	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		invasive squamous cell carcinoma of the cervix; mRNA:increased expression:tumor:significantly increased vs normal cervical tissue (p=0.012)	PMID:17440926|REF_RGD_ID:2301099
12083692	TLR9	toll like receptor 9	gene	DOID:1883	hepatitis C		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with psoriasis;mRNA:increased expession:skin (human)	PMID:27184185|REF_RGD_ID:18337479
12083692	TLR9	toll like receptor 9	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with acquired immunodeficiency syndrome;DNA:SNP:exon: (rs352140) (human)	PMID:28062211|REF_RGD_ID:18337466
12083692	TLR9	toll like receptor 9	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:2848G>A (rs352140) (human)	PMID:25388852|REF_RGD_ID:18337480
12083692	TLR9	toll like receptor 9	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, 3' utr:g.-1485C>T (rs187084), rs352162 (human)	PMID:20227302|REF_RGD_ID:5130722
12083692	TLR9	toll like receptor 9	gene	DOID:2841	asthma		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20016192|REF_RGD_ID:5129104
12083692	TLR9	toll like receptor 9	gene	DOID:2841	asthma	no_association	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C rs5743836 (human)	PMID:21324137|REF_RGD_ID:5130712
12083692	TLR9	toll like receptor 9	gene	DOID:2841	asthma	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:20072849|REF_RGD_ID:4889523
12083692	TLR9	toll like receptor 9	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:18312481|REF_RGD_ID:4144208
12083692	TLR9	toll like receptor 9	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (mouse)	PMID:18256364|REF_RGD_ID:7246909
12083692	TLR9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:19771452|REF_RGD_ID:5130704
12083692	TLR9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		DNA:SNP:intron:rs352139��	PMID:30529560|REF_RGD_ID:630350409
12083692	TLR9	toll like receptor 9	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		DNA:SNPs:promoter, intron:rs187084, rs352165, rs352167	PMID:37051380|REF_RGD_ID:630350413
12083692	TLR9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease; mRNA:increased expression:splenocyte (mouse)	PMID:21621468|REF_RGD_ID:7246893
12083692	TLR9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, exon:IVS4-44A>G, c.1635G>A (rs352139, rs352140) (human)	PMID:18776126|REF_RGD_ID:7246889
12083692	TLR9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNP, increased expression:exon, spleen:g.159C>G (mouse)	PMID:18776126|REF_RGD_ID:7246889
12083692	TLR9	toll like receptor 9	gene	DOID:2986	IgA glomerulonephritis	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Graft vs Host Disease	PMID:21621468|REF_RGD_ID:7246893
12083692	TLR9	toll like receptor 9	gene	DOID:3021	acute kidney failure		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:23548820|REF_RGD_ID:7245966
12083692	TLR9	toll like receptor 9	gene	DOID:3082	interstitial lung disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:18633634|REF_RGD_ID:5130206
12083692	TLR9	toll like receptor 9	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, neutrophil (human)	PMID:18155283|REF_RGD_ID:5130865
12083692	TLR9	toll like receptor 9	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:18633634|REF_RGD_ID:5130206
12083692	TLR9	toll like receptor 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:tumor (human)	PMID:15631627|REF_RGD_ID:5130185
12083692	TLR9	toll like receptor 9	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor, cytoplasm (human)	PMID:21929816|REF_RGD_ID:7246915
12083692	TLR9	toll like receptor 9	gene	DOID:4481	allergic rhinitis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:nasal mucosa:	PMID:22577387|REF_RGD_ID:7800740
12083692	TLR9	toll like receptor 9	gene	DOID:5199	ureteral obstruction		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (mouse)	PMID:21544241|REF_RGD_ID:7246895
12083692	TLR9	toll like receptor 9	gene	DOID:576	proteinuria		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic; DNA:snp:intron:g.1174A>G rs352139 (human)	PMID:22787315|REF_RGD_ID:7245989
12083692	TLR9	toll like receptor 9	gene	DOID:576	proteinuria		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic	PMID:23467932|REF_RGD_ID:7245987
12083692	TLR9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24990399
12083692	TLR9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein: increased expression:peripheral blood mononuclear cell (human)	PMID:18215354|REF_RGD_ID:18337472
12083692	TLR9	toll like receptor 9	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:24452201|REF_RGD_ID:18337468
12083692	TLR9	toll like receptor 9	gene	DOID:784	chronic kidney disease	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:g.-1237T>C, g.1635G>A (rs5743836, rs352140) (human, Han Chinese)	PMID:21908957|REF_RGD_ID:7246887
12083692	TLR9	toll like receptor 9	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum (rat)	PMID:19608731|REF_RGD_ID:5128779
12083692	TLR9	toll like receptor 9	gene	DOID:874	bacterial pneumonia		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:20360853|REF_RGD_ID:5130719
12083692	TLR9	toll like receptor 9	gene	DOID:8778	Crohn's disease		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15236225|PMID:17914947
12083692	TLR9	toll like receptor 9	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:expression increases with the histopathological grade (p<0.001)	PMID:17440926|REF_RGD_ID:2301099
12083692	TLR9	toll like receptor 9	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12781911|REF_RGD_ID:7794740
12083692	TLR9	toll like receptor 9	gene	DOID:9000989	Pneumococcal Infections		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17004992|REF_RGD_ID:5130710
12083692	TLR9	toll like receptor 9	gene	DOID:9000998	Brain Injuries		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
12083692	TLR9	toll like receptor 9	gene	DOID:9001004	Chronic Periodontitis	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva:	PMID:21848608|REF_RGD_ID:7794852
12083692	TLR9	toll like receptor 9	gene	DOID:9001295	Achlorhydria		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:20038537|REF_RGD_ID:5130741
12083692	TLR9	toll like receptor 9	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
12083692	TLR9	toll like receptor 9	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17853411|REF_RGD_ID:5130186
12083692	TLR9	toll like receptor 9	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
12083692	TLR9	toll like receptor 9	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:oral epithelium:	PMID:22672741|REF_RGD_ID:7777153
12083692	TLR9	toll like receptor 9	gene	DOID:9003615	Granuloma, Foreign-Body		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
12083692	TLR9	toll like receptor 9	gene	DOID:9003828	Klebsiella Infections		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:17785831|REF_RGD_ID:5130866
12083692	TLR9	toll like receptor 9	gene	DOID:9003870	Herpes Simplex Encephalitis	resistance	ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cheek (rat)	PMID:20806060|REF_RGD_ID:5130178
12083692	TLR9	toll like receptor 9	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, peripheral blood mononuclear cell (human)	PMID:23026026|REF_RGD_ID:18337477
12083692	TLR9	toll like receptor 9	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:19513613|REF_RGD_ID:18337470
12083692	TLR9	toll like receptor 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12083692	TLR9	toll like receptor 9	gene	DOID:9004283	Transplant Rejection	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		kidney; DNA:snp:exon:g.+2848G>A rs352140 (human, North Indian)	PMID:22251233|REF_RGD_ID:7246885
12083692	TLR9	toll like receptor 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		associated with Meningitis,Bacterial; DNA:SNP: :-1237T>C(rs5743836)(human)	PMID:22662111|REF_RGD_ID:7800663
12083692	TLR9	toll like receptor 9	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:tumor (human)	PMID:18763053|REF_RGD_ID:5130705
12083692	TLR9	toll like receptor 9	gene	DOID:9005358	Hypergammaglobulinemia		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic	PMID:23467932|REF_RGD_ID:7245987
12083692	TLR9	toll like receptor 9	gene	DOID:9005372	Inflammation		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19797157
12083692	TLR9	toll like receptor 9	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:631352	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple tissues	PMID:18434754|REF_RGD_ID:2312677
12083692	TLR9	toll like receptor 9	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1346715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24273604
12083692	TLR9	toll like receptor 9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression: blood, neutrophil (human)	PMID:26457748|REF_RGD_ID:18337465
12083692	TLR9	toll like receptor 9	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:19164858|PMID:23509352|REF_RGD_ID:18337473|REF_RGD_ID:18337476
12083692	TLR9	toll like receptor 9	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:26518209|REF_RGD_ID:630350565
12083692	TLR9	toll like receptor 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:32641753
12083692	TLR9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein: decreased expression:liver, CD14-positive monocyte (human)	PMID:24622882|REF_RGD_ID:18337464
12083692	TLR9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein: increased expression:peripheral blood mononuclear cell (human)	PMID:18215354|REF_RGD_ID:18337472
12083692	TLR9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:27126946|REF_RGD_ID:18337474
12083692	TLR9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNPs: 5'UTR: (rs5743836, rs187084) (human)	PMID:30453064|REF_RGD_ID:18337467
12083692	TLR9	toll like receptor 9	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:peripheral blood mononuclear cell (human)	PMID:19513613|REF_RGD_ID:18337470
12083692	TLR9	toll like receptor 9	gene	DOID:9008691	Liver Injury	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Hemorrhagic Shock	PMID:20577143|REF_RGD_ID:18337475
12083692	TLR9	toll like receptor 9	gene	DOID:9008691	Liver Injury	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		associated with Kidney Reperfusion Injury	PMID:26361210|REF_RGD_ID:18337471
12083692	TLR9	toll like receptor 9	gene	DOID:9008765	Malarial Anemia	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.-1237T>C (rs5743836) (human)	PMID:23045477|REF_RGD_ID:11344971
12083692	TLR9	toll like receptor 9	gene	DOID:9009407	rhinovirus infections		ISO	RGD:1346715	D	RGD:9068941	20260115	RGD		associated with cystic fibrosis and Staphylococcal Infections and Pseudomonas Infections;mRNA: increased expression:sputum	PMID:32712204|REF_RGD_ID:630350557
12083692	TLR9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1549988	D	RGD:9068941	20200609	RGD		mRNA:increased expression:B lymphocyte (mouse)	PMID:21592581|REF_RGD_ID:7246894
12083692	TLR9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1549988	D	RGD:9068941	20200609	RGD			PMID:16973389|REF_RGD_ID:7245988
12083692	TLR9	toll like receptor 9	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		DNA:snp:exon:c.1635C>T rs352140 (human)	PMID:19130296|REF_RGD_ID:5130767
12083692	TLR9	toll like receptor 9	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1346715	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin:	PMID:20493664|REF_RGD_ID:7794748
12083692	TLR9	toll like receptor 9	gene	DOID:9849	Meniere's disease		ISO	RGD:1346715	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:30311386
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:0050830	peripheral artery disease		ISO	RGD:731586	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:0070309	absence epilepsy	treatment	ISO	RGD:3199	D	RGD:9068941	20241205	RGD			PMID:17331209|REF_RGD_ID:10448963
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:1574	alcohol use disorder		ISO	RGD:3199	D	RGD:9068941	20250529	RGD		mRNA:increased expression:hippocampus	PMID:32057593|REF_RGD_ID:405096486
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:1936	atherosclerosis		ISO	RGD:11017	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:2018	hyperinsulinism		ISO	RGD:3199	D	RGD:9068941	20200609	RGD			PMID:15187000|REF_RGD_ID:1625494
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:3146	lipid metabolism disorder	susceptibility	ISO	RGD:731586	D	RGD:9068941	20200609	RGD		DNA:SNPs: :many	PMID:17426313|REF_RGD_ID:1625492
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:4247	coronary restenosis		ISO	RGD:3199	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:carotid artery	PMID:12689918|REF_RGD_ID:1625501
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:5394	prolactinoma		ISO	RGD:3199	D	RGD:9068941	20200609	RGD		protein:increased expression:pars anterior	PMID:11026575|REF_RGD_ID:1625506
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9001039	Leukocytosis		ISO	RGD:3199	D	RGD:9068941	20200609	RGD			PMID:12417430|REF_RGD_ID:729324
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9004120	Alcohol Withdrawal Seizures		ISO	RGD:731586	D	RGD:9068941	20250501	RGD		DNA:SNPs:promoter, intron 2, intron 3:rs4314240, rs4632602, rs7678265	PMID:18828811|REF_RGD_ID:598154709
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9005372	Inflammation		ISO	RGD:3199	D	RGD:9068941	20200609	RGD			PMID:12161018|REF_RGD_ID:1625503
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3199	D	RGD:9068941	20241214	RGD			PMID:9212103|REF_RGD_ID:1625496
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9970	obesity		ISO	RGD:3199	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus	PMID:17447163|REF_RGD_ID:10448938
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9970	obesity		ISO	RGD:731586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10849579
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9970	obesity		ISO	RGD:731586	D	RGD:9068941	20240502	RGD		DNA:SNP:utr (Y5R1c52) (human)	PMID:23900445|REF_RGD_ID:405650675
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9970	obesity	susceptibility	ISO	RGD:731586	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:10849579|REF_RGD_ID:1625493
12083720	NPY5R	neuropeptide Y receptor Y5	gene	DOID:9976	heroin dependence	disease_progression	ISO	RGD:732227	D	RGD:9068941	20250802	RGD		DNA:SNP:intergenic:rs4234955	PMID:29465008|REF_RGD_ID:402463944
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731795	D	RGD:9068941	20231111	RGD		associated with morbid obesity;mRNA:decreased expression:liver	PMID:33081272|REF_RGD_ID:401900305
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:731795	D	RGD:9068941	20231111	RGD		associated with morbid obesity;mRNA:decreased expression:liver	PMID:33081272|REF_RGD_ID:401900305
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:10763	hypertension		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8627522
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:62093	D	RGD:9068941	20240425	MouseDO			
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:3454	brain infarction		ISO	RGD:61801	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:4079	heart valve disease		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10617681|PMID:11104741|PMID:16141947|PMID:19505264
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:4079	heart valve disease	treatment	ISO	RGD:61801	D	RGD:9068941	20200609	RGD			PMID:19346455|REF_RGD_ID:9698458
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:6000	congestive heart failure		ISO	RGD:61801	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle cardiac muscle (rat)	PMID:17936780|REF_RGD_ID:9698457
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:6000	congestive heart failure		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19023134
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14659797
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:61801	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:16936262|REF_RGD_ID:9743846
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302781|PMID:19023134|PMID:20374255
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:731795	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16863450
12083733	HTR2B	5-hydroxytryptamine receptor 2B	gene	DOID:9452	steatotic liver disease		ISO	RGD:731795	D	RGD:9068941	20231111	RGD		associated with morbid obesity;mRNA:decreased expression:liver	PMID:33081272|REF_RGD_ID:401900305
12083738	INTS10	integrator complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083738	INTS10	integrator complex subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:1324	lung cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083738	INTS10	integrator complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:3275	thymoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:4362	cervical cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083738	INTS10	integrator complex subunit 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12083738	INTS10	integrator complex subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1602701	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083738	INTS10	integrator complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083738	INTS10	integrator complex subunit 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12083738	INTS10	integrator complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083738	INTS10	integrator complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083738	INTS10	integrator complex subunit 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1602701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12083780	SNX25	sorting nexin 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083780	SNX25	sorting nexin 25	gene	DOID:10534	stomach cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083780	SNX25	sorting nexin 25	gene	DOID:1059	intellectual disability		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12083780	SNX25	sorting nexin 25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083780	SNX25	sorting nexin 25	gene	DOID:1115	sarcoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083780	SNX25	sorting nexin 25	gene	DOID:12849	autistic disorder		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12083780	SNX25	sorting nexin 25	gene	DOID:3275	thymoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083780	SNX25	sorting nexin 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083780	SNX25	sorting nexin 25	gene	DOID:4362	cervical cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083780	SNX25	sorting nexin 25	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12083780	SNX25	sorting nexin 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1320883	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083780	SNX25	sorting nexin 25	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12083780	SNX25	sorting nexin 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083780	SNX25	sorting nexin 25	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12083780	SNX25	sorting nexin 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083780	SNX25	sorting nexin 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083780	SNX25	sorting nexin 25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12083817	MCRS1	microspherule protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083817	MCRS1	microspherule protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083817	MCRS1	microspherule protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083817	MCRS1	microspherule protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:0060058	lymphoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:10534	stomach cancer		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:1115	sarcoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:1324	lung cancer		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:1909	melanoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:3070	high grade glioma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:3275	thymoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:4362	cervical cancer		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:5041	esophageal cancer		ISO	RGD:731015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:6039	uveal melanoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083853	PFKP	phosphofructokinase, platelet	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69215	D	RGD:9068941	20220825	MouseDO			
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0061203	maple syrup urine disease type IA		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0061205	mild variant of maple syrup urine disease		ISO	RGD:69214	D	RGD:8554872	20251104	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:25741868|PMID:35205278
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency		ISO	RGD:69214	D	RGD:7240710	20180130	OMIM			
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency		ISO	RGD:69214	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCKDK DEFICIENCY | ClinVar Annotator: match by term: BCKDK-related condition | ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency	PMID:16875466|PMID:17576681|PMID:22956686|PMID:25741868|PMID:28492532|PMID:9536098
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:10534	stomach cancer		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:1059	intellectual disability		ISO	RGD:69214	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:10907	microcephaly		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:1143	exotropia		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:12270	coloboma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:14228	oligospermia		ISO	RGD:2198	D	RGD:9068941	20201015	RGD		DNA:missense mutation:cds:G369E (rat)	PMID:27472223|REF_RGD_ID:39131293
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:1826	epilepsy		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:2841	asthma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:3275	thymoma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:4362	cervical cancer		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:630	genetic disease		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9000495	Tremor		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9002189	High Myopia		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9004866	Ataxia		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9007854	Fibrous Dysplasia, Monostotic		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monostotic fibrous dysplasia	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
12083896	BCKDK	branched chain keto acid dehydrogenase kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083912	MIGA1	mitoguardin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083912	MIGA1	mitoguardin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083912	MIGA1	mitoguardin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12083912	MIGA1	mitoguardin 1	gene	DOID:3275	thymoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12083912	MIGA1	mitoguardin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083912	MIGA1	mitoguardin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12083912	MIGA1	mitoguardin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605523	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12083912	MIGA1	mitoguardin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:0061182	familial hypercholanemia 2		ISO	RGD:737174	D	RGD:7240710	20210414	OMIM			
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:0061182	familial hypercholanemia 2		ISO	RGD:737174	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPERCHOLANEMIA, FAMILIAL, 2 | ClinVar Annotator: match by term: Hypercholanemia, familial, 2 | ClinVar Annotator: match by term: SLC10A1-related condition | ClinVar Annotator: match by term: hypercholanemia, familial, 2	PMID:24867799|PMID:25741868
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:24867799|PMID:25741868
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD			PMID:29655695|REF_RGD_ID:15090803
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:1909	melanoma		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:2043	hepatitis B		ISO	RGD:737174	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:25550158
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:28827769|REF_RGD_ID:15045609
12083935	SLC10A1	solute carrier family 10 member 1	gene	DOID:9970	obesity	disease_progression	ISO	RGD:3681	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
12083944	PIR	pirin	gene	DOID:2773	contact dermatitis		ISO	RGD:1342511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12083944	PIR	pirin	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1342511	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12083944	PIR	pirin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12083944	PIR	pirin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1352934	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chemke syndrome	PMID:25741868|PMID:28492532
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050847	sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050902	medulloblastoma		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: Medulloblastoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060046	aphasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060249	scoliosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060604	ankyloglossia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060809	syndromic X-linked intellectual disability Claes-Jensen type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:7240710	20180130	OMIM			
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0070777	syndromic X-linked intellectual developmental disorder, Snijders Blok type		ISO	RGD:1352934	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DDX3X-related X-linked intellectual disability | ClinVar Annotator: match by term: DDX3X-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	PMID:17576681|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26091043|PMID:26235985|PMID:26582918|PMID:27058758|PMID:27159028|PMID:27180681|PMID:27993330|PMID:28327206|PMID:28467829|PMID:28492532|PMID:28726821|PMID:29302074|PMID:29490693|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30765705|PMID:30817323|PMID:31216476|PMID:31300642|PMID:31574483|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33057194|PMID:33149276|PMID:33230298|PMID:33258288|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33692367|PMID:33741928|PMID:33993884|PMID:34008892|PMID:34356170|PMID:35121978|PMID:35392274|PMID:35982159|PMID:36114283|PMID:36219477|PMID:38057330|PMID:38177409|PMID:38421120|PMID:9536098
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21779027|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:26822237|PMID:27058758|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30734472|PMID:30765705|PMID:31574483|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34185076|PMID:34356170|PMID:37422363|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084|PMID:33741928
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080704	medulloblastoma SHH activated and TP53 mutant		ISO	RGD:1352934	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 mutant	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28726821|PMID:32135084|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25741868|PMID:26235985|PMID:27180681|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30734472|PMID:32135084|PMID:33504798|PMID:33627125|PMID:33741928|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33741928|PMID:33993884|PMID:34356170|PMID:37422363|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22722829|PMID:22820256|PMID:22832583|PMID:27993330|PMID:28726821
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080833	laryngomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080918	polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0080920	bilateral generalized polymicrogyria		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral generalized polymicrogyria	PMID:25741868|PMID:26235985|PMID:30349862|PMID:31274575|PMID:32852922
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1352934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0110734	neurodegeneration with brain iron accumulation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron accumulation in brain	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:26235985|PMID:28492532|PMID:30349862|PMID:32165824|PMID:34008892
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:38177409|PMID:38284452
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:30734472|PMID:30817323|PMID:31618753|PMID:31785789|PMID:32135084|PMID:32371413|PMID:32714884|PMID:33258288|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34008892|PMID:34356170|PMID:36114283|PMID:38177409|PMID:38284452
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33504798|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:10908	hydrocephalus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:11111	hydronephrosis		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1143	exotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:11714	gestational diabetes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:12535527|PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:11782	astigmatism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:12535527|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:11830	myopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:12215	oligohydramnios		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1247	blood coagulation disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:12639	pyloric stenosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25382417|PMID:35101336
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1459	hypothyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:26235985|PMID:28492532
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:14766	renal agenesis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1596	depressive disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:breast, nucleus (human)	PMID:28761359|REF_RGD_ID:151356502
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352934	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1909	melanoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:1969	cerebral palsy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:2030	anxiety disorder		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:2340	craniosynostosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:3144	cutis laxa		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:420	hypertrichosis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352934	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:24183723
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:540	strabismus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:543	dystonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:5723	optic atrophy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12535527|PMID:17631897|PMID:22722829|PMID:22820256|PMID:22832583|PMID:25533962|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27058758|PMID:27159028|PMID:27993330|PMID:28327206|PMID:28333917|PMID:28371085|PMID:28492532|PMID:28726821|PMID:29490693|PMID:30125339|PMID:30734472|PMID:30817323|PMID:31618753|PMID:32135084|PMID:32371413|PMID:32553121|PMID:33149276|PMID:33460649|PMID:33504798|PMID:33627125|PMID:33993884|PMID:34356170|PMID:38421120
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:674	cleft palate		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile rheumatoid arthritis	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1557808	D	RGD:9068941	20220210	RGD			PMID:30297359|REF_RGD_ID:151356499
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:684	hepatocellular carcinoma	sexual_dimorphism	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		associated with hepatitis B; mRNA,protein:decreased expression:liver (human)	PMID:16301996|REF_RGD_ID:151356660
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:21779027|PMID:23202128|PMID:26192917|PMID:27993330|PMID:30523111|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:7998	hyperthyroidism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:83	cataract		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:8398	osteoarthritis		ISO	RGD:1352934	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:8649	tongue cancer	ameliorates	ISO	RGD:1557808	D	RGD:9068941	20220210	RGD			PMID:25918862|REF_RGD_ID:151356506
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:870	neuropathy		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:8927	learning disability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000495	Tremor		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000962	Snoring		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Snoring	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		human cells in mouse model	PMID:26087195|REF_RGD_ID:11096798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9000966	Night Terror		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep terror	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9001031	Retrognathia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9001581	Constipation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002554	Tachycardia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:27159028
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002569	Overweight		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9002969	Nevus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9003132	Sialorrhea		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9003133	Hypertelorism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004014	Adducted Thumbs Syndrome		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumbs, congenital Clasped	PMID:12535527
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004507	Hirsutism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:27159028
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004866	Ataxia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: ataxia	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9005077	Joint Instability		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:33504798|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32371413|PMID:33993884|PMID:34356170
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9006735	Overriding Aorta		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overriding aorta	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1352934	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:22722829|PMID:22820256|PMID:22832583|PMID:24651015|PMID:25724843|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30581057|PMID:33627125|PMID:33741928|PMID:38057330
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22722829|PMID:22820256|PMID:22832583|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30349862|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:12535527
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007573	Flatfoot		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:26598523|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32135084|PMID:32714884|PMID:33627125
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9007722	Myoclonus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:25741895|PMID:26235985|PMID:27159028|PMID:27993330|PMID:28492532|PMID:28726821|PMID:30125339|PMID:30349862|PMID:32371413|PMID:33504798|PMID:33993884|PMID:34356170|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008214	Genu Valgum		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008421	Epistaxis		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868|PMID:38177409
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868|PMID:30349862
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:12535527
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:12535527|PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:25741868|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum (human)	PMID:31391454|REF_RGD_ID:151356658
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		human cells in mouse model	PMID:31391454|REF_RGD_ID:151356658
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum (human)	PMID:26892600|PMID:27007150|REF_RGD_ID:151356503|REF_RGD_ID:151356505
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD		protein:increased expression:colorectum, nucleus (human)	PMID:28761359|REF_RGD_ID:151356502
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1352934	D	RGD:9068941	20220210	RGD			PMID:26087195|REF_RGD_ID:11096798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:27159028
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9834	hyperopia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9840	esotropia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:27159028
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9970	obesity		ISO	RGD:1352934	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:26235985|PMID:27159028|PMID:28327206|PMID:28492532|PMID:30817323|PMID:31618753|PMID:32371413|PMID:33504798
12083961	DDX3X	DEAD-box helicase 3 X-linked	gene	DOID:9993	hypoglycemia		ISO	RGD:1352934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22722829|PMID:22820256|PMID:22832583|PMID:2563148|PMID:25741868|PMID:26235985|PMID:27993330|PMID:28726821|PMID:30125339|PMID:32135084
12083994	ENPP4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12083994	ENPP4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12083994	ENPP4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12083994	ENPP4	ectonucleotide pyrophosphatase/phosphodiesterase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084025	C1S	complement C1s	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12084025	C1S	complement C1s	gene	DOID:0080939	hereditary angioedema type I		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3184114
12084025	C1S	complement C1s	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1605130	D	RGD:7240710	20190315	OMIM			
12084025	C1S	complement C1s	gene	DOID:0080987	Ehlers-Danlos syndrome periodontal type 2		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1S-related condition | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2	PMID:25741868|PMID:27745832|PMID:28492532
12084025	C1S	complement C1s	gene	DOID:10534	stomach cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084025	C1S	complement C1s	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084025	C1S	complement C1s	gene	DOID:1115	sarcoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084025	C1S	complement C1s	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
12084025	C1S	complement C1s	gene	DOID:417	autoimmune disease		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
12084025	C1S	complement C1s	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12084025	C1S	complement C1s	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12084025	C1S	complement C1s	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084025	C1S	complement C1s	gene	DOID:6039	uveal melanoma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084025	C1S	complement C1s	gene	DOID:630	genetic disease		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084025	C1S	complement C1s	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12084025	C1S	complement C1s	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12084025	C1S	complement C1s	gene	DOID:9006194	Complement Component C1s Deficiency		ISO	RGD:1605130	D	RGD:7240710	20180130	OMIM			
12084025	C1S	complement C1s	gene	DOID:9006194	Complement Component C1s Deficiency		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1s DEFICIENCY | ClinVar Annotator: match by term: Complement 1s deficiency | ClinVar Annotator: match by term: Complement component C1s deficiency	PMID:11390518|PMID:18062908|PMID:19155518|PMID:25741868|PMID:28492532|PMID:31440263|PMID:9973493
12084025	C1S	complement C1s	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084025	C1S	complement C1s	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1605130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11390518
12084025	C1S	complement C1s	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0060240	UV-sensitive syndrome		ISO	RGD:1601889	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0080907	Cockayne syndrome A		ISO	RGD:1601889	D	RGD:7240710	20180130	OMIM			
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:0080907	Cockayne syndrome A		ISO	RGD:1601889	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COCKAYNE SYNDROME A | ClinVar Annotator: match by term: Cockayne syndrome  type I | ClinVar Annotator: match by term: Cockayne syndrome type 1 | ClinVar Annotator: match by term: Cockayne syndrome, type A | ClinVar Annotator: match by term: ERCC8-related condition	PMID:14661080|PMID:16199547|PMID:16949367|PMID:17576681|PMID:18414213|PMID:19894250|PMID:21108394|PMID:22829088|PMID:25741868|PMID:26616585|PMID:2829088|PMID:28492532|PMID:29057985|PMID:29422660|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30200888|PMID:30871974|PMID:32048102|PMID:34105807|PMID:7664335|PMID:9536098
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1553774	D	RGD:9068941	20200609	RGD		associated with Cockayne Syndrome	PMID:25762674|REF_RGD_ID:11567237
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:30182135|PMID:30871974
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:10907	microcephaly		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19894250
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:19894250
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:19894250
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:1612	breast cancer		ISO	RGD:1601889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:28492532
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cockayne syndrome	PMID:14661080|PMID:16949367|PMID:17576681|PMID:19894250|PMID:25741868|PMID:28492532|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32048102|PMID:36231052|PMID:9536098
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:3652	Leigh disease		ISO	RGD:8660129	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:28492532
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:5679	retinal disease		ISO	RGD:1553774	D	RGD:9068941	20200609	RGD			PMID:17145777|REF_RGD_ID:10401109
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9000316	UV-Sensitive Syndrome 2		ISO	RGD:1601889	D	RGD:7240710	20180130	OMIM			
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9000316	UV-Sensitive Syndrome 2		ISO	RGD:1601889	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: UV-SENSITIVE SYNDROME 2 | ClinVar Annotator: match by term: UV-sensitive syndrome 2	PMID:14661080|PMID:16949367|PMID:17576681|PMID:18414213|PMID:19894250|PMID:21108394|PMID:22829088|PMID:25741868|PMID:2829088|PMID:28492532|PMID:29531219|PMID:29572252|PMID:30182135|PMID:30871974|PMID:32048102|PMID:34105807|PMID:9536098
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19894250
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19894250
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084043	ERCC8	ERCC excision repair 8, CSA ubiquitin ligase complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084061	POU2AF1	POU class 2 homeobox associating factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084061	POU2AF1	POU class 2 homeobox associating factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084061	POU2AF1	POU class 2 homeobox associating factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084061	POU2AF1	POU class 2 homeobox associating factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:7240710	20190821	OMIM			
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:0111524	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1319604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	PMID:25741868|PMID:28492532|PMID:29290614|PMID:30057030|PMID:37013609
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319604	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:1115	sarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:1909	melanoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1319604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:630	genetic disease		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:24509834|PMID:25741868|PMID:37013609
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:7240710	20190315	OMIM			
12084073	TOP3A	DNA topoisomerase III alpha	gene	DOID:9009217	Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2		ISO	RGD:1319604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 | ClinVar Annotator: match by term: Microcephaly, growth restriction, and increased sister chromatid exchange 2 | ClinVar Annotator: match by term: TOP3A-related condition	PMID:25741868|PMID:28492532|PMID:30057030|PMID:37013609
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:0080600	COVID-19		ISO	RGD:1603282	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:1909	melanoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:440	neuromuscular disease		ISO	RGD:1603282	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603282	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:19894111|PMID:23996866|PMID:24686251|PMID:28492532|PMID:38922859
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084098	TMEM106A	transmembrane protein 106A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352618	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1352618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084120	GRB10	growth factor receptor bound protein 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1352618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12084156	BARX2	BARX homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084156	BARX2	BARX homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084156	BARX2	BARX homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084156	BARX2	BARX homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084164	SPO11	SPO11 initiator of meiotic double strand breaks	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1315081	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
12084164	SPO11	SPO11 initiator of meiotic double strand breaks	gene	DOID:4362	cervical cancer		ISO	RGD:1315081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:0111852	primary ciliary dyskinesia 38		ISO	RGD:1605606	D	RGD:7240710	20190315	OMIM			
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:0111852	primary ciliary dyskinesia 38		ISO	RGD:1605606	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: CFAP300-related condition | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 38 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38	PMID:25741868|PMID:28492532|PMID:29727692|PMID:29727693
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:3070	high grade glioma		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:630	genetic disease		ISO	RGD:1605606	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084194	CFAP300	cilia and flagella associated protein 300	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1605606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary valve atresia	
12084207	MYOD1	myogenic differentiation 1	gene	DOID:0081349	congenital myopathy 17		ISO	RGD:1353183	D	RGD:7240710	20201216	OMIM			
12084207	MYOD1	myogenic differentiation 1	gene	DOID:0081349	congenital myopathy 17		ISO	RGD:1353183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 17 | ClinVar Annotator: match by term: MYOD1-related condition | ClinVar Annotator: match by term: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies	PMID:25741868|PMID:28492532
12084207	MYOD1	myogenic differentiation 1	gene	DOID:10763	hypertension		ISO	RGD:631429	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gastrocnemius	PMID:22076133|REF_RGD_ID:9686076
12084207	MYOD1	myogenic differentiation 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1353183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24793135
12084207	MYOD1	myogenic differentiation 1	gene	DOID:3260	spindle cell rhabdomyosarcoma		ISO	RGD:1353183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spindle Cell Rhabdomyosarcoma	PMID:24272621|PMID:24793135|PMID:24824843|PMID:27562493|PMID:27993330|PMID:30181563|PMID:34166060
12084207	MYOD1	myogenic differentiation 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1353183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258934
12084207	MYOD1	myogenic differentiation 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:631429	D	RGD:9068941	20200609	RGD		associated with Aortic Valve Stenosis	PMID:20060348|REF_RGD_ID:9686081
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1353183	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1353183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258934
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:631429	D	RGD:9068941	20200609	RGD			PMID:23781298|REF_RGD_ID:9686078
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9008444	Skeletal Muscle Injuries	treatment	ISO	RGD:631429	D	RGD:9068941	20200609	RGD			PMID:19754672|REF_RGD_ID:9686075
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:631429	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:diaphragm	PMID:21258934|REF_RGD_ID:9686080
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9970	obesity		ISO	RGD:631429	D	RGD:9068941	20200609	RGD			PMID:22349736|REF_RGD_ID:9686079
12084207	MYOD1	myogenic differentiation 1	gene	DOID:9970	obesity		ISO	RGD:631429	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:plantaris	PMID:18508911|REF_RGD_ID:2313320
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084214	LOC612555	MAGI family member, X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:7243252	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:11050551|RGD:11050910	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:34900981	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:16595074|PMID:25741868|PMID:28492532
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8605297	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:1677356|PMID:16773563|PMID:18003767|PMID:18830871|PMID:20110537|PMID:20122163|PMID:20716442|PMID:21890869|PMID:21946453|PMID:22205110|PMID:22437327|PMID:22551898|PMID:23306324|PMID:23922385|PMID:23935525|PMID:24033266|PMID:24365053|PMID:24395922|PMID:24582695|PMID:24661928|PMID:24829596|PMID:25179549|PMID:25382311|PMID:25468652|PMID:25741868|PMID:26070511|PMID:26305465|PMID:26866599|PMID:28253518|PMID:28299312|PMID:28332257|PMID:28409012|PMID:28492532|PMID:28596458|PMID:28646478|PMID:28892806|PMID:28941980|PMID:29132836|PMID:29143201|PMID:29227985|PMID:29305833|PMID:29330335|PMID:29631605|PMID:30246259|PMID:30477121|PMID:30569317|PMID:30773290|PMID:31291414|PMID:31449323|PMID:31566927|PMID:31613176|PMID:31654629|PMID:31860127|PMID:31907047|PMID:31996269|PMID:32418857|PMID:32531501|PMID:33527381|PMID:33712733|PMID:35743707|PMID:8878432
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:8605302	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:22336178|PMID:23465405|PMID:25382311|PMID:25741868|PMID:27532257|PMID:27657681|PMID:28492532
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:9687787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:11889412|PMID:20360539|PMID:22905681|PMID:23219219|PMID:23935525|PMID:24015197|PMID:24033266|PMID:24582695|PMID:25382311|PMID:25741868|PMID:26866599|PMID:26990548|PMID:27657681|PMID:28340804|PMID:28492532|PMID:28646478|PMID:29132836|PMID:30739116|PMID:31036492|PMID:31860127|PMID:33036343
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:8561877	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy	PMID:11668641|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:21549080|PMID:21598360|PMID:22805550|PMID:23219219|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:27142856|PMID:27832731|PMID:28492532|PMID:28799081|PMID:29867742|PMID:29982630|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:32583479|PMID:33617311|PMID:35743707|PMID:36156392|PMID:38618884|PMID:8878432|PMID:9100224
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:7243252	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10208848|PMID:10838196|PMID:10916280|PMID:11322659|PMID:11668641|PMID:11688386|PMID:12428061|PMID:15702404|PMID:15806320|PMID:16533976|PMID:16595074|PMID:16773563|PMID:17040996|PMID:17532296|PMID:17804462|PMID:18154965|PMID:18596132|PMID:20031620|PMID:20360539|PMID:20505683|PMID:21549080|PMID:21598360|PMID:2171331|PMID:22241068|PMID:22805550|PMID:23219219|PMID:23378663|PMID:23430526|PMID:23935525|PMID:24033266|PMID:24082139|PMID:24380807|PMID:24386359|PMID:24784157|PMID:25040344|PMID:25382311|PMID:25611685|PMID:25741868|PMID:26415523|PMID:27142856|PMID:27356758|PMID:27560961|PMID:27832731|PMID:27916943|PMID:28253518|PMID:28382085|PMID:28492532|PMID:28728877|PMID:28799081|PMID:29121657|PMID:29794742|PMID:29867742|PMID:29982630|PMID:30804731|PMID:30902821|PMID:31613176|PMID:31650418|PMID:31860127|PMID:31907047|PMID:31949022|PMID:31956509|PMID:31996269|PMID:32011328|PMID:32281532|PMID:32418857|PMID:32531501|PMID:33495303|PMID:33617311|PMID:35743707|PMID:36156392|PMID:8738659|PMID:8878432|PMID:9100224|PMID:9395081|PMID:9883849
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:7243252	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:7243252	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy	PMID:25741868|PMID:27545675|PMID:30887513|PMID:31236915|PMID:31670473|PMID:31943778|PMID:32335897|PMID:33728377|PMID:34907471
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:14499	Fabry disease		ISO	RGD:7243252	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease	PMID:10090526|PMID:10200059|PMID:10208848|PMID:10360396|PMID:105759|PMID:10649504|PMID:10666480|PMID:10838196|PMID:10916280|PMID:11076046|PMID:11137837|PMID:11145098|PMID:11179018|PMID:11295840|PMID:11322659|PMID:11531969|PMID:11531972|PMID:11668641|PMID:11688386|PMID:11804208|PMID:11828341|PMID:11889412|PMID:11914245|PMID:12068026|PMID:12175777|PMID:12207598|PMID:12359124|PMID:12428061|PMID:12429061|PMID:12480979|PMID:12512750|PMID:12668521|PMID:12694230|PMID:12778775|PMID:12786754|PMID:12796853|PMID:12911529|PMID:12920095|PMID:12938095|PMID:1315304|PMID:1315715|PMID:14635108|PMID:14680977|PMID:15003450|PMID:15086478|PMID:15091117|PMID:15100373|PMID:15162124|PMID:15339079|PMID:15353880|PMID:15492942|PMID:15611419|PMID:15695328|PMID:15702403|PMID:15702404|PMID:15712228|PMID:15713906|PMID:15776423|PMID:15806320|PMID:15861341|PMID:15924232|PMID:15947062|PMID:16148726|PMID:16199547|PMID:16215932|PMID:16224739|PMID:16232095|PMID:1650161|PMID:16533976|PMID:16595074|PMID:16626582|PMID:1668641|PMID:16720462|PMID:16754800|PMID:1677356|PMID:16773563|PMID:17040996|PMID:17057070|PMID:17206462|PMID:17224688|PMID:17437606|PMID:17452128|PMID:17532296|PMID:1753437|PMID:17555407|PMID:17576681|PMID:17656478|PMID:17713670|PMID:17804462|PMID:18003767|PMID:18023222|PMID:18046674|PMID:18057066|PMID:18154965|PMID:18154966|PMID:18205205|PMID:18287059|PMID:18297328|PMID:18387337|PMID:18424138|PMID:1846223|PMID:18472290|PMID:18555667|PMID:18560446|PMID:18596132|PMID:18633574|PMID:18698230|PMID:18724168|PMID:18784903|PMID:18830871|PMID:18849176|PMID:18974770|PMID:19265719|PMID:19285316|PMID:19287194|PMID:19320660|PMID:19373884|PMID:19387866|PMID:19621417|PMID:19823873|PMID:19941952|PMID:20022777|PMID:20031620|PMID:20110537|PMID:20122163|PMID:20139917|PMID:20300124|PMID:20360539|PMID:20367968|PMID:20464614|PMID:20498269|PMID:20505683|PMID:20615758|PMID:20628902|PMID:20629180|PMID:20716442|PMID:20821055|PMID:20864368|PMID:21062768|PMID:21092187|PMID:21138548|PMID:21229318|PMID:21305660|PMID:21333496|PMID:21353612|PMID:21420783|PMID:21517827|PMID:2152885|PMID:21549080|PMID:21587323|PMID:21598360|PMID:2160973|PMID:21683120|PMID:21700093|PMID:2171331|PMID:21804088|PMID:21890869|PMID:21896204|PMID:21946453|PMID:21972175|PMID:22004918|PMID:22063097|PMID:22078290|PMID:22176145|PMID:22205110|PMID:22226368|PMID:22227322|PMID:22241068|PMID:22305854|PMID:22336178|PMID:22378313|PMID:22437327|PMID:22472932|PMID:22498845|PMID:22551898|PMID:22563919|PMID:22682330|PMID:22695894|PMID:22773828|PMID:22805550|PMID:22874111|PMID:22880956|PMID:22905681|PMID:23109060|PMID:23146289|PMID:23210910|PMID:23219219|PMID:23248976|PMID:23305247|PMID:23306324|PMID:23307880|PMID:23332617|PMID:23378663|PMID:23387234|PMID:23393592|PMID:23430502|PMID:23430526|PMID:23430848|PMID:23430946|PMID:23465405|PMID:23474038|PMID:23537685|PMID:23566439|PMID:23568732|PMID:23591357|PMID:23608164|PMID:23677059|PMID:23691425|PMID:23724928|PMID:23756194|PMID:23818648|PMID:23826564|PMID:23867994|PMID:23913314|PMID:23922385|PMID:23935525|PMID:23980562|PMID:24015197|PMID:24033266|PMID:24082139|PMID:24094560|PMID:24236025|PMID:24334114|PMID:24365053|PMID:24380807|PMID:24386359|PMID:24395922|PMID:24496231|PMID:24503780|PMID:24582695|PMID:24613481|PMID:24626231|PMID:24626659|PMID:24661928|PMID:24718812|PMID:24784157|PMID:24829596|PMID:24830310|PMID:24980630|PMID:25026990|PMID:25040344|PMID:25078086|PMID:25086909|PMID:25149322|PMID:25179549|PMID:25319043|PMID:25382311|PMID:25386848|PMID:2539398|PMID:25395255|PMID:25409744|PMID:25439755|PMID:25468650|PMID:25468652|PMID:25487570|PMID:25511234|PMID:25525159|PMID:25531941|PMID:25596309|PMID:25611685|PMID:25619383|PMID:25637381|PMID:25640679|PMID:25655062|PMID:25663229|PMID:25666440|PMID:25677671|PMID:25741868|PMID:25750198|PMID:25762495|PMID:25772321|PMID:25795794|PMID:25835592|PMID:25865499|PMID:25896551|PMID:25900714|PMID:25949379|PMID:25955246|PMID:25965380|PMID:25974833|PMID:25977923|PMID:26044846|PMID:26047621|PMID:26070511|PMID:26083343|PMID:26179544
12084243	LOC100687687	60S ribosomal protein L36a-like	gene	DOID:14499	Fabry disease		ISO	RGD:7243252	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease	PMID:36745055|PMID:36873653|PMID:37205992|PMID:37441486|PMID:37480128|PMID:38002959|PMID:6379599|PMID:7504405|PMID:7531540|PMID:7575533|PMID:7596372|PMID:7599642|PMID:7759078|PMID:7911050|PMID:7951217|PMID:8012363|PMID:8069316|PMID:8395937|PMID:8411052|PMID:8738659|PMID:8768754|PMID:8807334|PMID:8834244|PMID:8863162|PMID:8875188|PMID:8878432|PMID:8931708|PMID:8996967|PMID:9100224|PMID:9105656|PMID:9116979|PMID:9268104|PMID:9395081|PMID:9452068|PMID:9452090|PMID:9452111|PMID:9536098|PMID:9554750|PMID:9620884|PMID:9883849
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323582	D	RGD:9068941	20210122	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323582	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:1100	ovarian disease		ISO	RGD:1323582	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: therapeutic	PMID:39952379
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:1115	sarcoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:1324	lung cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323582	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:27957685
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:1909	melanoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1311889	D	RGD:9068941	20210122	RGD		mRNA:increased expression:cerebral cortex	PMID:16777714|REF_RGD_ID:10003026
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:3275	thymoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1323582	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:23602965
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:1311889	D	RGD:9068941	20210122	RGD		mRNA, protein:increased expression:cerebral cortex, hippocampus	PMID:20309649|REF_RGD_ID:9999437
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1558477	D	RGD:9068941	20210122	RGD			PMID:24569808|REF_RGD_ID:9999438
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084250	TRPM2	transient receptor potential cation channel subfamily M member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:3070	high grade glioma		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084371	MTRF1L	mitochondrial translation release factor 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084382	IRX5	iroquois homeobox 5	gene	DOID:0050642	hypochromic microcytic anemia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	
12084382	IRX5	iroquois homeobox 5	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:1115	sarcoma		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084382	IRX5	iroquois homeobox 5	gene	DOID:11830	myopia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320389	D	RGD:9068941	20230706	RGD		mRNA:increased expression:heart left ventricle (human)	PMID:16753336|REF_RGD_ID:329950575
12084382	IRX5	iroquois homeobox 5	gene	DOID:13714	anodontia		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:1400	lacrimal apparatus disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:630	genetic disease		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084382	IRX5	iroquois homeobox 5	gene	DOID:850	lung disease		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
12084382	IRX5	iroquois homeobox 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1320389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
12084382	IRX5	iroquois homeobox 5	gene	DOID:9002589	Bone Fractures		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084382	IRX5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:7240710	20180130	OMIM			
12084382	IRX5	iroquois homeobox 5	gene	DOID:9006817	Hamamy Syndrome		ISO	RGD:1320389	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HAMAMY SYNDROME | ClinVar Annotator: match by term: Hamamy syndrome | ClinVar Annotator: match by term: IRX5-related condition	PMID:25741868|PMID:28492532
12084382	IRX5	iroquois homeobox 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22581230
12084400	S100G	S100 calcium binding protein G	gene	DOID:10591	pre-eclampsia		ISO	RGD:1344914	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12084400	S100G	S100 calcium binding protein G	gene	DOID:11714	gestational diabetes		ISO	RGD:1344914	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12084408	MIR199-3	microRNA mir-199-3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352073	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver	PMID:30536310|REF_RGD_ID:14694833
12084408	MIR199-3	microRNA mir-199-3	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1352073	D	RGD:9068941	20220825	RGD		miRNA:increased expression:esophagus (human)	PMID:29906417|REF_RGD_ID:153344526
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:17182591|REF_RGD_ID:4146242
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1398A>G (human)	PMID:17006604|REF_RGD_ID:4892639
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:11714828|PMID:18480254|REF_RGD_ID:4892647|REF_RGD_ID:4892654
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma		ISO	RGD:732736	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchus	PMID:20383033|REF_RGD_ID:4892646
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1050C>T (human)	PMID:10686479|REF_RGD_ID:4892655
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, 3' utr:-281T>G, 1365A>G (human)	PMID:17392323|REF_RGD_ID:4892650
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2250747 (human)	PMID:19796199|REF_RGD_ID:4145601
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:14527737|REF_RGD_ID:8549525
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:43163G>A (rs6646259) (human)	PMID:22045834|REF_RGD_ID:8549502
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD			PMID:20808962|REF_RGD_ID:4892610
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:732736	D	RGD:9068941	20200609	RGD			PMID:20671265|REF_RGD_ID:4892611
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:8893	psoriasis		ISO	RGD:1347132	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:14527737|REF_RGD_ID:8549525
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084426	IL13RA1	interleukin 13 receptor subunit alpha 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:0050994	episodic ataxia type 6		ISO	RGD:732126	D	RGD:7240710	20180130	OMIM			
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:0050994	episodic ataxia type 6		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episodic ataxia type 6 | ClinVar Annotator: match by term: SLC1A3-related condition	PMID:25741868|PMID:26467025|PMID:28492532
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:0080600	COVID-19		ISO	RGD:732126	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:12849	autistic disorder		ISO	RGD:732126	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11706102
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:13544	low tension glaucoma		ISO	RGD:736549	D	RGD:9068941	20220825	MouseDO		OMIM:606657	
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:1826	epilepsy		ISO	RGD:732126	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19853022
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:3275	thymoma		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:630	genetic disease		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3698	D	RGD:9068941	20230921	RGD			PMID:23595285|REF_RGD_ID:401794586
12084441	SLC1A3	solute carrier family 1 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:0060335	autosomal dominant sideroblastic anemia 4		ISO	RGD:1323451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 4 | ClinVar Annotator: match by term: HSPA9-related condition	PMID:25741868|PMID:28492532
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:0080855	Parkinsonism		ISO	RGD:1311806	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum	PMID:21542017|REF_RGD_ID:6784518
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD			PMID:17050040|REF_RGD_ID:10402560
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323452	D	RGD:9068941	20200609	RGD			PMID:17050040|REF_RGD_ID:10402560
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:13141	uveitis		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16565515
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:A>T476(human)	PMID:20817635|REF_RGD_ID:6784528
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple:	PMID:19657588|REF_RGD_ID:6784529
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:16565515|REF_RGD_ID:6784531
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:14330	Parkinson's disease	disease_progression	ISO	RGD:1323451	D	RGD:9068941	20200609	RGD			PMID:18219256|REF_RGD_ID:6784530
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:1909	melanoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:2316	brain ischemia		ISO	RGD:1311806	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:7629893|REF_RGD_ID:6784525
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:417	autoimmune disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21850155
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:630	genetic disease		ISO	RGD:1323451	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1323451	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial cell:	PMID:23739258|REF_RGD_ID:10402561
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9005930	Endotoxemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:7240710	20190315	OMIM			
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006624	EVEN-PLUS SYNDROME		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EVEN-PLUS SYNDROME | ClinVar Annotator: match by term: Even-plus syndrome	PMID:25741868|PMID:26491070|PMID:26598328|PMID:31338833|PMID:33398880
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1323451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084455	HSPA9	heat shock protein family A (Hsp70) member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1312641	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12084476	IRF2	interferon regulatory factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:1909	melanoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312641	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517
12084476	IRF2	interferon regulatory factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12084476	IRF2	interferon regulatory factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084501	ZNF330	zinc finger protein 330	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:1115	sarcoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:1324	lung cancer		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084501	ZNF330	zinc finger protein 330	gene	DOID:1909	melanoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:6039	uveal melanoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084501	ZNF330	zinc finger protein 330	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084501	ZNF330	zinc finger protein 330	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084501	ZNF330	zinc finger protein 330	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:1324	lung cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:3070	high grade glioma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:3275	thymoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1314652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1314652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084521	LENG8	leukocyte receptor cluster member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084551	RSPH6A	radial spoke head 6 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084551	RSPH6A	radial spoke head 6 homolog A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084551	RSPH6A	radial spoke head 6 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084551	RSPH6A	radial spoke head 6 homolog A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084551	RSPH6A	radial spoke head 6 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084565	RRAS2	RAS related 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1321899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26457647
12084565	RRAS2	RAS related 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084565	RRAS2	RAS related 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130282|PMID:32721511|PMID:38430549
12084565	RRAS2	RAS related 2	gene	DOID:0080690	RASopathy		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: rasopathies	PMID:25741868|PMID:31130282
12084565	RRAS2	RAS related 2	gene	DOID:0112170	Noonan syndrome 12		ISO	RGD:1321899	D	RGD:7240710	20191030	OMIM			
12084565	RRAS2	RAS related 2	gene	DOID:0112170	Noonan syndrome 12		ISO	RGD:1321899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NOONAN SYNDROME 12 | ClinVar Annotator: match by term: Noonan Syndrome 12 | ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition	PMID:10557073|PMID:25741868|PMID:26457647|PMID:26619011|PMID:26956871|PMID:27391150|PMID:27905446|PMID:27993330|PMID:28492532|PMID:29437595|PMID:30425122|PMID:31130282|PMID:31130285|PMID:31803624|PMID:32721511|PMID:35599849|PMID:36457486|PMID:38601074
12084565	RRAS2	RAS related 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084565	RRAS2	RAS related 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
12084565	RRAS2	RAS related 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2	
12084565	RRAS2	RAS related 2	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:25741868|PMID:27993330|PMID:37942564
12084565	RRAS2	RAS related 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130285|PMID:32721511|PMID:37942564
12084565	RRAS2	RAS related 2	gene	DOID:3304	germinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
12084565	RRAS2	RAS related 2	gene	DOID:3490	Noonan syndrome		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan Syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:28492532|PMID:31130282|PMID:32721511|PMID:36476833|PMID:38601074
12084565	RRAS2	RAS related 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084565	RRAS2	RAS related 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084565	RRAS2	RAS related 2	gene	DOID:4439	central nervous system germ cell tumor		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system germ cell tumor	PMID:25741868|PMID:26956871|PMID:27391150|PMID:27905446|PMID:27993330|PMID:28492532|PMID:31130282|PMID:31130285|PMID:32721511|PMID:35599849|PMID:36457486
12084565	RRAS2	RAS related 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084565	RRAS2	RAS related 2	gene	DOID:630	genetic disease		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084565	RRAS2	RAS related 2	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:27993330|PMID:31130282|PMID:37942564
12084565	RRAS2	RAS related 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1321899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147764
12084565	RRAS2	RAS related 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:32721511
12084565	RRAS2	RAS related 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:27993330|PMID:37942564
12084565	RRAS2	RAS related 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321899	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17656362|PMID:24148564|PMID:24826867|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28078450|PMID:31130282|PMID:32721511
12084565	RRAS2	RAS related 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27993330|PMID:37942564
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:0080600	COVID-19		ISO	RGD:733283	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:2394	ovarian cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733283	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:305	carcinoma		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:733283	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:619972	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084584	ALCAM	activated leukocyte cell adhesion molecule	gene	DOID:9256	colorectal cancer		ISO	RGD:733283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313951	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084608	CYBRD1	cytochrome b reductase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084616	MYO5B	myosin VB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084616	MYO5B	myosin VB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084616	MYO5B	myosin VB	gene	DOID:0060775	microvillus inclusion disease		ISO	RGD:736652	D	RGD:7240710	20180130	OMIM			
12084616	MYO5B	myosin VB	gene	DOID:0060775	microvillus inclusion disease		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital familial protracted diarrhea with enterocyte brush-border abnormalities | ClinVar Annotator: match by term: Congenital microvillous atrophy | ClinVar Annotator: match by term: DIARRHEA 2, WITH MICROVILLUS ATROPHY | ClinVar Annotator: match by term: MYO5B-related condition | ClinVar Annotator: match by term: microvillus inclusion disease	PMID:16199547|PMID:17576681|PMID:18724368|PMID:19006234|PMID:20186687|PMID:21206382|PMID:24014347|PMID:24033266|PMID:25111220|PMID:25741868|PMID:26553929|PMID:28027573|PMID:28492532|PMID:28899465|PMID:29218485|PMID:29266534|PMID:31559144|PMID:31750554|PMID:32888943|PMID:33462484|PMID:34811877|PMID:38448026|PMID:9536098
12084616	MYO5B	myosin VB	gene	DOID:10534	stomach cancer		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084616	MYO5B	myosin VB	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084616	MYO5B	myosin VB	gene	DOID:1115	sarcoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084616	MYO5B	myosin VB	gene	DOID:13250	diarrhea		ISO	RGD:736652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18724368
12084616	MYO5B	myosin VB	gene	DOID:1909	melanoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084616	MYO5B	myosin VB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084616	MYO5B	myosin VB	gene	DOID:3275	thymoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084616	MYO5B	myosin VB	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084616	MYO5B	myosin VB	gene	DOID:4362	cervical cancer		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084616	MYO5B	myosin VB	gene	DOID:5041	esophageal cancer		ISO	RGD:736652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12084616	MYO5B	myosin VB	gene	DOID:5295	intestinal disease		ISO	RGD:736652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18724368
12084616	MYO5B	myosin VB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084616	MYO5B	myosin VB	gene	DOID:630	genetic disease		ISO	RGD:736652	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12084616	MYO5B	myosin VB	gene	DOID:655	inherited metabolic disorder		ISO	RGD:736652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18724368
12084616	MYO5B	myosin VB	gene	DOID:670	amphetamine abuse		ISO	RGD:736652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12084616	MYO5B	myosin VB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084616	MYO5B	myosin VB	gene	DOID:9003622	Progressive Familial Intrahepatic Cholestasis 10		ISO	RGD:736652	D	RGD:7240710	20220518	OMIM			
12084616	MYO5B	myosin VB	gene	DOID:9003622	Progressive Familial Intrahepatic Cholestasis 10		ISO	RGD:736652	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 | ClinVar Annotator: match by term: Cholestasis, progressive familial intrahepatic, 10	PMID:18724368|PMID:20186687|PMID:24033266|PMID:25741868|PMID:27532546|PMID:28027573|PMID:28492532|PMID:32304554
12084616	MYO5B	myosin VB	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hepatomegaly	PMID:25741868
12084616	MYO5B	myosin VB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084616	MYO5B	myosin VB	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:736652	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
12084616	MYO5B	myosin VB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084616	MYO5B	myosin VB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084616	MYO5B	myosin VB	gene	DOID:9256	colorectal cancer		ISO	RGD:736652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1342658	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:2394	ovarian cancer		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342658	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12084659	UNC5CL	unc-5 family C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084678	ANO6	anoctamin 6	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1312398	D	RGD:9068941	20200609	RGD		associated with Spondylitis, Ankylosing;DNA:SNP: :rs17095830(human)	PMID:23308121|REF_RGD_ID:9684849
12084678	ANO6	anoctamin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084678	ANO6	anoctamin 6	gene	DOID:0070683	congenital hydrocephalus 2		ISO	RGD:1312398	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 2	PMID:25741868
12084678	ANO6	anoctamin 6	gene	DOID:0111052	Scott syndrome		IAGP		D	RGD:12801476	20260618	OMIA		Scott syndrome	PMID:11895776|PMID:19854246|PMID:19351331|PMID:15761668|PMID:17723137|PMID:23061683|PMID:26414452|PMID:36848397|PMID:37582787|PMID:37673175
12084678	ANO6	anoctamin 6	gene	DOID:0111052	Scott syndrome		ISO	RGD:1312398	D	RGD:7240710	20180130	OMIM			
12084678	ANO6	anoctamin 6	gene	DOID:0111052	Scott syndrome		ISO	RGD:1312398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANO6-related condition | ClinVar Annotator: match by term: SCOTT SYNDROME | ClinVar Annotator: match by term: Scott syndrome	PMID:16199547|PMID:21107324|PMID:21511967|PMID:25741868|PMID:27879994|PMID:28492532|PMID:37647632
12084678	ANO6	anoctamin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12084678	ANO6	anoctamin 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084678	ANO6	anoctamin 6	gene	DOID:3275	thymoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084678	ANO6	anoctamin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084678	ANO6	anoctamin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084678	ANO6	anoctamin 6	gene	DOID:630	genetic disease		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084678	ANO6	anoctamin 6	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1312398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138694
12084678	ANO6	anoctamin 6	gene	DOID:7147	ankylosing spondylitis	severity	ISO	RGD:1312398	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs17095830(human)	PMID:23308121|REF_RGD_ID:9684849
12084678	ANO6	anoctamin 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12084678	ANO6	anoctamin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084678	ANO6	anoctamin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084678	ANO6	anoctamin 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1312398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12084712	C1QC	complement C1q C chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1315664	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
12084712	C1QC	complement C1q C chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
12084712	C1QC	complement C1q C chain	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
12084712	C1QC	complement C1q C chain	gene	DOID:0080600	COVID-19		ISO	RGD:1315664	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12084712	C1QC	complement C1q C chain	gene	DOID:1115	sarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:1324	lung cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:1883	hepatitis C		ISO	RGD:1315664	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35789393
12084712	C1QC	complement C1q C chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:3275	thymoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:4362	cervical cancer		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1315664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:630	genetic disease		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12084712	C1QC	complement C1q C chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12084712	C1QC	complement C1q C chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12084712	C1QC	complement C1q C chain	gene	DOID:9007516	C1q Deficiency		ISO	RGD:1315664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY | ClinVar Annotator: match by term: C1Q deficiency	PMID:20635792|PMID:21654842|PMID:25741868|PMID:28082982|PMID:28492532|PMID:30008451|PMID:31357913|PMID:7900940|PMID:8630118
12084712	C1QC	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:7240710	20230505	OMIM			
12084712	C1QC	complement C1q C chain	gene	DOID:9007652	C1q Deficiency 3		ISO	RGD:1315664	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1Q DEFICIENCY 3 | ClinVar Annotator: match by term: C1QC-related condition	PMID:24157463|PMID:28492532|PMID:8630118
12084712	C1QC	complement C1q C chain	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:1315664	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318126	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0061212	hypocholesteremia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocholesterolemia	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:9068941	20200609	RGD			PMID:15094225|REF_RGD_ID:1581245
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1318126	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Acanthocytosis with hypobetalipoproteinemia | ClinVar Annotator: match by term: Apolipoprotein B deficiency | ClinVar Annotator: match by term: Familial hypobetalipoproteinemia 1	PMID:10446076|PMID:10679949|PMID:10946006|PMID:12630961|PMID:1439810|PMID:16143868|PMID:16199547|PMID:16721486|PMID:17132287|PMID:17275380|PMID:17576681|PMID:18027103|PMID:18611256|PMID:20592474|PMID:21394827|PMID:22236406|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:27170061|PMID:27271787|PMID:27487388|PMID:27578136|PMID:28492532|PMID:28818680|PMID:2903181|PMID:30522860|PMID:31964843|PMID:32041611|PMID:32483926|PMID:33258201|PMID:33994405|PMID:37206948|PMID:7782284|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:0111062	familial hypobetalipoproteinemia 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apolipoprotein B deficiency	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:10763	hypertension	onset	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:16328015|REF_RGD_ID:1625485
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:13250	diarrhea		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:7240710	20190315	OMIM			
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:1386	abetalipoproteinemia		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABETALIPOPROTEINEMIA | ClinVar Annotator: match by term: Abetalipoproteinemia | ClinVar Annotator: match by term: MTTP-related condition	PMID:10679949|PMID:10946006|PMID:12630961|PMID:16143868|PMID:16199547|PMID:17275380|PMID:17576681|PMID:18611256|PMID:19066957|PMID:21394827|PMID:23043934|PMID:23475612|PMID:24842304|PMID:25108285|PMID:25741868|PMID:26224785|PMID:27578136|PMID:28492532|PMID:30522860|PMID:30782561|PMID:31914726|PMID:31964843|PMID:32041611|PMID:33258201|PMID:33994405|PMID:37206948|PMID:37484212|PMID:8111381|PMID:8361539|PMID:8533758|PMID:8939939|PMID:9536098|PMID:9671739
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal obesity-metabolic syndrome 1	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:1909	melanoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:2018	hyperinsulinism	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:11849654|REF_RGD_ID:1625490
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:3275	thymoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318126	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:5679	retinal disease		ISO	RGD:1318126	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:18027103|PMID:25741868|PMID:27170061|PMID:27487388|PMID:28492532|PMID:33111339
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:630	genetic disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-493G>T	PMID:15136504|REF_RGD_ID:1625487
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1318126	D	RGD:9068941	20200609	RGD			PMID:17215532|REF_RGD_ID:1625482
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9006098	Abetalipoproteinemia Neuropathy		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abetalipoproteinemia neuropathy	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1318126	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Metabolic syndrome X	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1318126	D	RGD:9068941	20200609	RGD		DNA:polymorphisms	PMID:15635487|REF_RGD_ID:1625486
12084719	MTTP	microsomal triglyceride transfer protein	gene	DOID:9993	hypoglycemia		ISO	RGD:1318126	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
12084744	CHRNA9	cholinergic receptor nicotinic alpha 9 subunit	gene	DOID:5409	lung small cell carcinoma	susceptibility	ISO	RGD:733287	D	RGD:9068941	20220128	RGD		DNA:SNPs:multiples:	PMID:22280835|REF_RGD_ID:151347453
12084744	CHRNA9	cholinergic receptor nicotinic alpha 9 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084744	CHRNA9	cholinergic receptor nicotinic alpha 9 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084744	CHRNA9	cholinergic receptor nicotinic alpha 9 subunit	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:733287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30259641
12084751	RNF145	ring finger protein 145	gene	DOID:10534	stomach cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084751	RNF145	ring finger protein 145	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084751	RNF145	ring finger protein 145	gene	DOID:1115	sarcoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084751	RNF145	ring finger protein 145	gene	DOID:1324	lung cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084751	RNF145	ring finger protein 145	gene	DOID:1909	melanoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084751	RNF145	ring finger protein 145	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084751	RNF145	ring finger protein 145	gene	DOID:3275	thymoma		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084751	RNF145	ring finger protein 145	gene	DOID:4362	cervical cancer		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084751	RNF145	ring finger protein 145	gene	DOID:5041	esophageal cancer		ISO	RGD:1602832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084751	RNF145	ring finger protein 145	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084751	RNF145	ring finger protein 145	gene	DOID:6039	uveal melanoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084751	RNF145	ring finger protein 145	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602832	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084751	RNF145	ring finger protein 145	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084751	RNF145	ring finger protein 145	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12084751	RNF145	ring finger protein 145	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome		ISO	RGD:1350722	D	RGD:7240710	20180130	OMIM			
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:0060773	cleft lip-palate-ectodermal dysplasia syndrome		ISO	RGD:1350722	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME | ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition	PMID:11756979|PMID:12893758|PMID:16195396|PMID:16674562|PMID:17089422|PMID:18223281|PMID:19132250|PMID:19715471|PMID:23560673|PMID:24560896|PMID:25741868|PMID:28492532
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10932188|PMID:16199547|PMID:19715471|PMID:25913853|PMID:28492532
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1350722	D	RGD:9068941	20200609	RGD		cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060    DNA,protein:point_mutation:CDS:G554A -> amino acid W185X	PMID:10932188|REF_RGD_ID:1599795
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350722	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:630	genetic disease		ISO	RGD:1350722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:674	cleft palate		ISO	RGD:1350722	D	RGD:9068941	20200609	RGD		cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060    DNA,protein:point_mutation:CDS:G554A -> amino acid W185X	PMID:10932188|REF_RGD_ID:1599795
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:8566	herpes simplex		ISO	RGD:1350722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10729168
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620791	D	RGD:9068941	20240629	RGD			PMID:27394444|REF_RGD_ID:405866373
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:1350722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10932188
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084770	NECTIN1	nectin cell adhesion molecule 1	gene	DOID:9296	cleft lip		ISO	RGD:1350722	D	RGD:9068941	20200609	RGD		cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060    DNA,protein:point_mutation:CDS:G554A -> amino acid W185X	PMID:10932188|REF_RGD_ID:1599795
12084785	NTN1	netrin 1	gene	DOID:0060058	lymphoma		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12084785	NTN1	netrin 1	gene	DOID:0070636	mirror movements 1		ISO	RGD:735501	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mirror movements 1	PMID:25741868
12084785	NTN1	netrin 1	gene	DOID:0070638	mirror movements 4		ISO	RGD:735501	D	RGD:7240710	20190315	OMIM			
12084785	NTN1	netrin 1	gene	DOID:0070638	mirror movements 4		ISO	RGD:735501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MIRROR MOVEMENTS 4 | ClinVar Annotator: match by term: NTN1-related condition	
12084785	NTN1	netrin 1	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:735501	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
12084785	NTN1	netrin 1	gene	DOID:10534	stomach cancer		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084785	NTN1	netrin 1	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:735502	D	RGD:9068941	20200609	RGD			PMID:30066400|REF_RGD_ID:13782183
12084785	NTN1	netrin 1	gene	DOID:1324	lung cancer		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084785	NTN1	netrin 1	gene	DOID:3275	thymoma		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084785	NTN1	netrin 1	gene	DOID:4362	cervical cancer		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084785	NTN1	netrin 1	gene	DOID:4724	brain edema		ISO	RGD:735501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29162556
12084785	NTN1	netrin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084785	NTN1	netrin 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:735501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29162556
12084785	NTN1	netrin 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:735501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29162556
12084785	NTN1	netrin 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	treatment	ISO	RGD:619809	D	RGD:9068941	20221201	RGD			PMID:26670826|REF_RGD_ID:155663663
12084785	NTN1	netrin 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735501	D	RGD:9068941	20230128	CTD		CTD Direct Evidence: therapeutic	PMID:35292334
12084785	NTN1	netrin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084785	NTN1	netrin 1	gene	DOID:9296	cleft lip		ISO	RGD:735501	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604721	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:1324	lung cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:1909	melanoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084795	SLC44A5	solute carrier family 44 member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:731415	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:17576681|PMID:23647072|PMID:24133262|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0051084	developmental and epileptic encephalopathy 112		ISO	RGD:731415	D	RGD:7240710	20231018	OMIM			
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0051084	developmental and epileptic encephalopathy 112		ISO	RGD:731415	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 112 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 112 | ClinVar Annotator: match by term: KCNH5-related disorder	PMID:23647072|PMID:24133262|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36307226|PMID:38008000
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28492532
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:10534	stomach cancer		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:1324	lung cancer		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:1826	epilepsy		ISO	RGD:731415	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:28492532
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:630	genetic disease		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:36307226
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:9007390	Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression	PMID:25741868
12084831	KCNH5	potassium voltage-gated channel subfamily H member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:1324	lung cancer		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:3275	thymoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084853	COPZ1	COPI coat complex subunit zeta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:10907	microcephaly		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:1115	sarcoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:12849	autistic disorder		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:1324	lung cancer		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:3070	high grade glioma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:8927	learning disability		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084866	MAP3K12	mitogen-activated protein kinase kinase kinase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084893	CALML6	calmodulin like 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12084893	CALML6	calmodulin like 6	gene	DOID:1115	sarcoma		ISO	RGD:1346825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084893	CALML6	calmodulin like 6	gene	DOID:1324	lung cancer		ISO	RGD:1346825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084893	CALML6	calmodulin like 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12084928	NDUFA4L2	NDUFA4 mitochondrial complex associated like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084928	NDUFA4L2	NDUFA4 mitochondrial complex associated like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084928	NDUFA4L2	NDUFA4 mitochondrial complex associated like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1601990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12084928	NDUFA4L2	NDUFA4 mitochondrial complex associated like 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1601990	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
12084928	NDUFA4L2	NDUFA4 mitochondrial complex associated like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084946	MB	myoglobin	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1354197	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:32125452|REF_RGD_ID:27095965
12084946	MB	myoglobin	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1354197	D	RGD:9068941	20200625	RGD		associated with hyperglycemia;protein:increased expression:serum (human)	PMID:32406594|REF_RGD_ID:32698682
12084946	MB	myoglobin	gene	DOID:11758	iron deficiency anemia		ISO	RGD:620411	D	RGD:9068941	20241205	RGD		protein:decreased expression:skeletal muscle	PMID:956378|REF_RGD_ID:488078620
12084946	MB	myoglobin	gene	DOID:1459	hypothyroidism		ISO	RGD:620411	D	RGD:9068941	20241205	RGD			PMID:25098716|REF_RGD_ID:460967409
12084946	MB	myoglobin	gene	DOID:1574	alcohol use disorder		ISO	RGD:1354197	D	RGD:9068941	20241205	RGD		protein:decreased expression:serum	PMID:3766421|REF_RGD_ID:458925288
12084946	MB	myoglobin	gene	DOID:3021	acute kidney failure		ISO	RGD:1354197	D	RGD:9068941	20200609	RGD		protein: increased expression: serum	PMID:23497406|REF_RGD_ID:7244253
12084946	MB	myoglobin	gene	DOID:3021	acute kidney failure		ISO	RGD:1552831	D	RGD:9068941	20241205	RGD		associated with  Rhabdomyolysis;protein:increased expression:renal tubules	PMID:37175528|REF_RGD_ID:460967411
12084946	MB	myoglobin	gene	DOID:3021	acute kidney failure		ISO	RGD:620411	D	RGD:9068941	20200609	RGD			PMID:9822635|REF_RGD_ID:7244259
12084946	MB	myoglobin	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:620411	D	RGD:9068941	20241205	RGD		associated with Rhabdomyolysis;	PMID:20133658|REF_RGD_ID:460967414
12084946	MB	myoglobin	gene	DOID:6432	pulmonary hypertension	disease_progression	ISO	RGD:620411	D	RGD:9068941	20241205	RGD			PMID:23142560|REF_RGD_ID:460967415
12084946	MB	myoglobin	gene	DOID:670	amphetamine abuse		ISO	RGD:1354197	D	RGD:9068941	20241205	RGD			PMID:12935649|REF_RGD_ID:458925289
12084946	MB	myoglobin	gene	DOID:7998	hyperthyroidism		ISO	RGD:620411	D	RGD:9068941	20241205	RGD			PMID:25098716|REF_RGD_ID:460967409
12084946	MB	myoglobin	gene	DOID:809	cocaine abuse		ISO	RGD:1354197	D	RGD:9068941	20241205	RGD		protein:increased expression:umbilical cord blood	PMID:8989474|REF_RGD_ID:458925290
12084946	MB	myoglobin	gene	DOID:9000528	Coronary Disease	severity	ISO	RGD:1354197	D	RGD:9068941	20200609	RGD			PMID:15976963|REF_RGD_ID:1582388
12084946	MB	myoglobin	gene	DOID:9000921	Crush Syndrome		ISO	RGD:620411	D	RGD:9068941	20200609	RGD			PMID:12558149|REF_RGD_ID:1582428
12084946	MB	myoglobin	gene	DOID:9002669	Hypoxia		ISO	RGD:620411	D	RGD:9068941	20200609	RGD			PMID:12530625|REF_RGD_ID:1582429
12084946	MB	myoglobin	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1354197	D	RGD:9068941	20200609	RGD			PMID:12788661|REF_RGD_ID:1582427
12084946	MB	myoglobin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:620411	D	RGD:9068941	20200609	RGD			PMID:12935692|REF_RGD_ID:1582426
12084946	MB	myoglobin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:620411	D	RGD:9068941	20241205	RGD		protein:decreased expression:subendocardium	PMID:3315739|REF_RGD_ID:485874381
12084946	MB	myoglobin	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:1354197	D	RGD:9068941	20200609	RGD			PMID:15762290|REF_RGD_ID:1582393
12084946	MB	myoglobin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1552831	D	RGD:9068941	20200609	RGD			PMID:15132981|REF_RGD_ID:1582385
12084946	MB	myoglobin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620411	D	RGD:9068941	20200609	RGD			PMID:11972171|REF_RGD_ID:1582431
12084946	MB	myoglobin	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620411	D	RGD:9068941	20241205	RGD			PMID:31455109|REF_RGD_ID:487982219
12084946	MB	myoglobin	gene	DOID:9007848	Sarcoplasmic Body Myopathy		ISO	RGD:1354197	D	RGD:7240710	20230505	OMIM			
12084946	MB	myoglobin	gene	DOID:9007848	Sarcoplasmic Body Myopathy		ISO	RGD:1354197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoglobinopathy	PMID:25741868
12084946	MB	myoglobin	gene	DOID:9008444	Skeletal Muscle Injuries		ISO	RGD:620411	D	RGD:9068941	20241205	RGD		protein:increased expression:plasma	PMID:19823114|REF_RGD_ID:489031815
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:10534	stomach cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:3275	thymoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12084953	MTHFSD	methenyltetrahydrofolate synthetase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0070341	neonatal-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:7240710	20180130	OMIM			
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0070341	neonatal-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CITRIN DEFICIENCY, NEONATAL OR INFANTILE ONSET | ClinVar Annotator: match by term: SLC25A13-related condition	PMID:10369257|PMID:11153906|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:17576681|PMID:18392553|PMID:19036621|PMID:20301360|PMID:21134364|PMID:21424115|PMID:21507300|PMID:24586645|PMID:25216257|PMID:25741868|PMID:27405544|PMID:28492532|PMID:29376577|PMID:29659898|PMID:29787821|PMID:30904546|PMID:36599957|PMID:9536098
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:7240710	20180130	OMIM			
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:0070342	adult-onset type II citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CITRIN DEFICIENCY, ADOLESCENT OR ADULT ONSET | ClinVar Annotator: match by term: Citrullinemia, type II, adult-onset | ClinVar Annotator: match by term: Late-onset citrullinemia	PMID:10369257|PMID:11153906|PMID:11793471|PMID:12111366|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:17576681|PMID:18392553|PMID:19036621|PMID:20301360|PMID:20927635|PMID:21507300|PMID:23053473|PMID:23430852|PMID:23901231|PMID:24069319|PMID:25365849|PMID:25741868|PMID:26858187|PMID:27405544|PMID:28492532|PMID:29651749|PMID:29659898|PMID:31450232|PMID:32962675|PMID:33497767|PMID:33763395|PMID:35142380|PMID:9536098
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:1115	sarcoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:11372	megacolon		ISO	RGD:1323000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:1324	lung cancer		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:1826	epilepsy		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:1909	melanoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:3275	thymoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:5082	liver cirrhosis		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:10369257|PMID:14680984|PMID:15050970|PMID:20301360|PMID:25741868|PMID:27405544|PMID:28492532
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:630	genetic disease		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9002589	Bone Fractures		ISO	RGD:1323000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22504420
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9004898	Jaundice		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:10369257|PMID:14680984|PMID:15050970|PMID:20301360|PMID:25741868|PMID:27405544|PMID:28492532
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9009138	Citrullinemia Type 2		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Citrin deficiency | ClinVar Annotator: match by term: Citrullinemia type II | ClinVar Annotator: match by term: citrin deficiency	PMID:10369257|PMID:11153906|PMID:11793471|PMID:12111366|PMID:12409267|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16311094|PMID:16874556|PMID:17576681|PMID:17982687|PMID:18392553|PMID:18487280|PMID:18578996|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21507300|PMID:21914561|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23430852|PMID:23901231|PMID:24069319|PMID:24161253|PMID:25381944|PMID:25640679|PMID:25741868|PMID:26858187|PMID:27405544|PMID:27779681|PMID:28492532|PMID:29152073|PMID:29651749|PMID:29659898|PMID:30703226|PMID:31607264|PMID:31845334|PMID:32447331|PMID:32962675|PMID:33137944|PMID:33497767|PMID:33627582|PMID:33763395|PMID:34045052|PMID:34704407|PMID:35142380|PMID:38323732|PMID:9536098
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9273	citrullinemia		ISO	RGD:1323000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Citrullinemia	PMID:10369257|PMID:11153906|PMID:11281457|PMID:11343052|PMID:11793471|PMID:12424587|PMID:12512993|PMID:14680984|PMID:15050970|PMID:16059747|PMID:16199547|PMID:16449956|PMID:17576681|PMID:17880783|PMID:18162705|PMID:18367750|PMID:18392553|PMID:18487280|PMID:19036621|PMID:19099775|PMID:19185551|PMID:19470249|PMID:20301360|PMID:20376801|PMID:20927635|PMID:21424115|PMID:21908947|PMID:21979481|PMID:22710133|PMID:23022256|PMID:23053473|PMID:23067347|PMID:23430852|PMID:23701493|PMID:24069319|PMID:24161253|PMID:24586645|PMID:25365849|PMID:25741868|PMID:25947987|PMID:26852511|PMID:26858187|PMID:27347070|PMID:27405544|PMID:27577219|PMID:27578510|PMID:27706244|PMID:27829683|PMID:28492532|PMID:29659898|PMID:30181955|PMID:30693370|PMID:31450232|PMID:31845334|PMID:31980526|PMID:32289814|PMID:32720136|PMID:32962675|PMID:33072931|PMID:33190319|PMID:33497767|PMID:33763395|PMID:34006251|PMID:34045052|PMID:35085585|PMID:35095998|PMID:35142380|PMID:35798653|PMID:36079864|PMID:36599957|PMID:37029238|PMID:37146272|PMID:37305718|PMID:37939726|PMID:38497870|PMID:39419476|PMID:855835|PMID:9536098
12084965	SLC25A13	solute carrier family 25 member 13	gene	DOID:9970	obesity		ISO	RGD:1323000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11153906|PMID:16059747|PMID:20301360|PMID:25741868|PMID:28492532|PMID:32962675|PMID:33763395|PMID:35142380
12084991	SHISA7	shisa family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12084991	SHISA7	shisa family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12084991	SHISA7	shisa family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3160565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31980526|PMID:34426522|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:0110145	Bartter disease type 4A		ISO	RGD:1346772	D	RGD:7240710	20180130	OMIM			
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:0110145	Bartter disease type 4A		ISO	RGD:1346772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: BSND-related condition | ClinVar Annotator: match by term: Bartter disease type 4A	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:19646679|PMID:21158220|PMID:21269598|PMID:21865213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26537508|PMID:28492532|PMID:28984810|PMID:29986705|PMID:30174009|PMID:30311386|PMID:30733538|PMID:31589614|PMID:31667618|PMID:31706454|PMID:31980526|PMID:32681043|PMID:33879512|PMID:34426522|PMID:34805638|PMID:35114279|PMID:35314707|PMID:35982159|PMID:38224868|PMID:38767670|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:0110146	Bartter disease type 4b		ISO	RGD:1346772	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile Bartter syndrome with sensorineural deafness	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:19646679|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:28984810|PMID:29986705|PMID:30174009|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31706454|PMID:31980526|PMID:33879512|PMID:34426522|PMID:35314707|PMID:35982159|PMID:38224868|PMID:38767670|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346772	D	RGD:9068941	20200609	RGD		Bartter syndrome with sensorineural deafness, OMIM:602522, DNA:point mutation:A1T, R8W, DNA:deletion:exon	PMID:11687798|REF_RGD_ID:1600603
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:445	Bartter disease		ISO	RGD:1346772	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Bartter syndrome	PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:17954364|PMID:18776122|PMID:19025784|PMID:19096086|PMID:19646679|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26467025|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:29254190|PMID:29986705|PMID:30174009|PMID:30303587|PMID:30311386|PMID:30733538|PMID:32608139|PMID:33348466|PMID:35628451|PMID:35709690|PMID:9463315
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:445	Bartter disease		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bartter syndrome | ClinVar Annotator: match by term: bartter syndrome	PMID:11687798|PMID:11734858|PMID:12111250|PMID:12574213|PMID:16199547|PMID:16328537|PMID:16572343|PMID:16583241|PMID:16773427|PMID:16935888|PMID:18776122|PMID:19096086|PMID:19646679|PMID:21158220|PMID:21269598|PMID:21541222|PMID:21865213|PMID:23967202|PMID:24033266|PMID:24902942|PMID:24949729|PMID:25741868|PMID:26537508|PMID:26857709|PMID:28012523|PMID:28492532|PMID:28555110|PMID:28984810|PMID:29254190|PMID:29398133|PMID:29942493|PMID:29986705|PMID:30174009|PMID:30311386|PMID:30733538|PMID:31589614|PMID:31667618|PMID:31706454|PMID:31980526|PMID:32279305|PMID:32608139|PMID:33348466|PMID:33597575|PMID:33879512|PMID:34426522|PMID:34671977|PMID:34805638|PMID:35314707|PMID:35628451|PMID:35709690|PMID:35982159|PMID:36314956|PMID:38224868|PMID:38767670|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449|PMID:9463315
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1346772	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:11734858|PMID:12574213|PMID:16328537|PMID:16572343|PMID:16935888|PMID:18776122|PMID:21158220|PMID:21269598|PMID:21865213|PMID:25741868|PMID:26537508|PMID:28492532|PMID:30311386|PMID:31589614|PMID:31667618|PMID:31980526|PMID:34426522|PMID:35314707|PMID:35982159|PMID:39336818|PMID:39467922|PMID:39498320|PMID:40794449
12085002	BSND	barttin CLCNK type accessory subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1350771	D	RGD:9068941	20200609	RGD		human gene in rat model	PMID:22090514|REF_RGD_ID:5684916
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		protein: decreased expression: brain	PMID:17996024|REF_RGD_ID:5685370
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:2559	opiate dependence		ISO	RGD:1350771	D	RGD:9068941	20231214	RGD		protein:decreased expression:pre-frontal cortex	PMID:14969742|REF_RGD_ID:401901596
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10094932
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350771	D	RGD:9068941	20200609	RGD		protein: decreased expression: mononuclear leukocytes	PMID:10094932|REF_RGD_ID:5688380
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:62278	D	RGD:9068941	20200609	RGD		DNA: deletion: : homozygous	PMID:18662895|REF_RGD_ID:5688373
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, neuron, microglial cell (rat)	PMID:23359120|REF_RGD_ID:13792782
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:61986	D	RGD:9068941	20200609	RGD			PMID:23196710|REF_RGD_ID:13792785
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:61986	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease	PMID:20410529|REF_RGD_ID:5684919
12085010	GRK6	G protein-coupled receptor kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:10534	stomach cancer		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:1115	sarcoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:1324	lung cancer		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9001031	Retrognathia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9001343	Infantile Hypotonia with Psychomotor Retardation		ISO	RGD:1348248	D	RGD:7240710	20190315	OMIM			
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9001343	Infantile Hypotonia with Psychomotor Retardation		ISO	RGD:1348248	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION | ClinVar Annotator: match by term: Hypotonia, infantile, with psychomotor retardation	PMID:25741868|PMID:28492532
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9008993	Myotonia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:25741868
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12085037	CCDC174	coiled-coil domain containing 174	gene	DOID:9884	muscular dystrophy		ISO	RGD:1348248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12085055	LOC100687619	peptidyl-prolyl cis-trans isomerase NIMA-interacting 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085055	LOC100687619	peptidyl-prolyl cis-trans isomerase NIMA-interacting 4	gene	DOID:1115	sarcoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085055	LOC100687619	peptidyl-prolyl cis-trans isomerase NIMA-interacting 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085055	LOC100687619	peptidyl-prolyl cis-trans isomerase NIMA-interacting 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:10534	stomach cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:1909	melanoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:3070	high grade glioma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:4362	cervical cancer		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:6039	uveal melanoma		ISO	RGD:1317710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085059	LOC100687713	BUB3-interacting and GLEBS motif-containing protein ZNF207	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085065	TMEM167B	transmembrane protein 167B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085065	TMEM167B	transmembrane protein 167B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085065	TMEM167B	transmembrane protein 167B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:1324	lung cancer		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:1909	melanoma		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:9001940	Megalencephalic Leukoencephalopathy with Subcortical Cysts 3		ISO	RGD:1319887	D	RGD:7240710	20230726	OMIM			
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:9001940	Megalencephalic Leukoencephalopathy with Subcortical Cysts 3		ISO	RGD:1319887	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 3 | ClinVar Annotator: match by term: Megalencephalic leukoencephalopathy with subcortical cysts 3	PMID:25741868
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085078	GPRC5B	G protein-coupled receptor class C group 5 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1344421	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085103	IFI27L2	interferon alpha inducible protein 27 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:27854218|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050581	brachydactyly		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1318630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, benign congenital	PMID:15563506|PMID:15689448|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18378883|PMID:18414213|PMID:18825676|PMID:20976770|PMID:20981092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24332716|PMID:25214167|PMID:25224718|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30487145|PMID:30564623|PMID:31731261|PMID:33964895|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24332716|PMID:24907562|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:29970176|PMID:30564623|PMID:31230720|PMID:31345219|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:34167565|PMID:35239206|PMID:37091313|PMID:37445923|PMID:7695699|PMID:8218237|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050840	cervical dystonia		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0060943	Ullrich congenital muscular dystrophy 1C		ISO	RGD:1318630	D	RGD:7240710	20240320	OMIM			
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0060943	Ullrich congenital muscular dystrophy 1C		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C	PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532|PMID:29419890
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:11992252|PMID:15689448|PMID:16199547|PMID:17576681|PMID:18366090|PMID:18414213|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24038877|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26467025|PMID:28492532|PMID:28688748|PMID:29419890|PMID:29970176|PMID:30564623|PMID:31345219|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:34720847|PMID:35239206|PMID:35723357|PMID:39367186|PMID:7695699|PMID:8218237|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23175733|PMID:23572247|PMID:23757202|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25214167|PMID:25224718|PMID:25326635|PMID:25380242|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26566670|PMID:26752647|PMID:26872670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28097933|PMID:28492532|PMID:28562329|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29894794|PMID:29970176|PMID:30467950|PMID:30564623|PMID:30687093|PMID:30706156|PMID:31066050|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:31345219|PMID:31731261|PMID:31862442|PMID:32037012|PMID:32065942|PMID:32154576|PMID:32343762|PMID:32403337|PMID:32448721|PMID:32528171|PMID:3352914|PMID:33596003|PMID:33749658|PMID:33879512|PMID:33964895|PMID:34167565|PMID:34418069|PMID:34440373|PMID:35239206|PMID:35487415|PMID:3564626|PMID:35723357|PMID:35846108|PMID:36498898|PMID:36703223|PMID:36982625|PMID:37023487|PMID:37091313|PMID:37366078|PMID:38374194|PMID:39021299|PMID:39825153|PMID:7695699|PMID:8218237|PMID:8817344|PMID:9536084|PMID:9536098|PMID:9724608
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25635128|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26436962|PMID:26467025|PMID:26566670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30687093|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:32037012|PMID:32065942|PMID:32528171|PMID:33749658|PMID:33964895|PMID:34167565|PMID:34440373|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26436962|PMID:26467025|PMID:26566670|PMID:27447704|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29970176|PMID:30564623|PMID:30687093|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31265121|PMID:31660995|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34037256|PMID:34167565|PMID:34440373|PMID:35239206|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition	PMID:11992252|PMID:15563506|PMID:15689448|PMID:16141002|PMID:16199547|PMID:16935502|PMID:17576681|PMID:17785673|PMID:17886299|PMID:18366090|PMID:18414213|PMID:18825676|PMID:19344236|PMID:20301676|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22995991|PMID:23040494|PMID:23572247|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24332716|PMID:24518369|PMID:24907562|PMID:25211533|PMID:25535305|PMID:25741868|PMID:25987458|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26436962|PMID:26467025|PMID:26566670|PMID:26872670|PMID:27708273|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28562329|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29970176|PMID:30564623|PMID:31069529|PMID:31127727|PMID:31230720|PMID:31345219|PMID:32037012|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:33964895|PMID:34167565|PMID:34440373|PMID:35239206|PMID:37023487|PMID:37091313|PMID:37366078|PMID:37445923|PMID:39138584|PMID:7695699|PMID:8218237|PMID:9536084|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061200	Bethlem myopathy 1C		ISO	RGD:1318630	D	RGD:7240710	20240320	OMIM			
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0061200	Bethlem myopathy 1C		ISO	RGD:1318630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1C	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0080000	muscular disease		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscle disorder	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0090050	dystonia 27		ISO	RGD:1318630	D	RGD:7240710	20180130	OMIM			
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0090050	dystonia 27		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive distal hereditary motor neuropathy | ClinVar Annotator: match by term: DYSTONIA 27 | ClinVar Annotator: match by term: Dystonia 27 | ClinVar Annotator: match by term: dystonia 27	PMID:15689448|PMID:17576681|PMID:18378883|PMID:18414213|PMID:20301676|PMID:20976770|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26004199|PMID:26247046|PMID:26284228|PMID:26467025|PMID:26872670|PMID:28492532|PMID:28688748|PMID:29970176|PMID:30564623|PMID:31345219|PMID:32065942|PMID:32403337|PMID:32448721|PMID:32528171|PMID:33596003|PMID:33749658|PMID:35239206|PMID:9536098
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0111428	essential tremor 1		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:0111669	hyaline fibromatosis syndrome		ISO	RGD:1318630	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hyalinosis, Inherited Systemic	PMID:25741868|PMID:33749658
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1318630	D	RGD:9068941	20231104	RGD		mRNA, protein:increased expression:stomach (human)	PMID:37483811|REF_RGD_ID:401854242
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1318630	D	RGD:9068941	20231109	RGD		mRNA:increased expression:stomach (human)	PMID:33470887|REF_RGD_ID:401854251
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1318630	D	RGD:9068941	20231026	RGD		DNA:SNP:CDS:D563, rs112913396 (human)	PMID:34143713|REF_RGD_ID:401851036
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:10763	hypertension		ISO	RGD:1318630	D	RGD:9068941	20231028	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	PMID:30226566|REF_RGD_ID:401851058
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:1115	sarcoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:11914	gastroparesis		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1318630	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:13223	uterine fibroid		ISO	RGD:1318630	D	RGD:9068941	20231102	RGD		mRNA:increased expression:uterus (human)	PMID:23818951|REF_RGD_ID:401851920
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1318630	D	RGD:9068941	20231102	RGD		protein:increased expression:aorta (human)	PMID:29137225|REF_RGD_ID:401851087
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:1673	pneumothorax		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumothorax	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:1826	epilepsy		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:1909	melanoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:2033	communication disorder		ISO	RGD:1318630	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:2154	nephroblastoma		ISO	RGD:1318630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:219	colon cancer		ISO	RGD:1318630	D	RGD:9068941	20231109	RGD		protein:increased expression:serum (human)	PMID:32245981|REF_RGD_ID:401900121
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:2841	asthma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:3275	thymoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:3652	Leigh disease		ISO	RGD:1318630	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:423	myopathy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15689448|PMID:20981092|PMID:23572247|PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1318630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:5374	pilomatrixoma		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:543	dystonia		ISO	RGD:1318630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:5844	myocardial infarction		ISO	RGD:1318630	D	RGD:9068941	20231028	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	PMID:30226566|REF_RGD_ID:401851058
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:1318630	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:24314752|PMID:25741868|PMID:27854213|PMID:28492532|PMID:37445923|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:630	genetic disease		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:24314752|PMID:25741868|PMID:27854213|PMID:28492532|PMID:37091313|PMID:37445923|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:767	muscular atrophy		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1318630	D	RGD:9068941	20231028	RGD		DNA:SNP:CDS:E1386K (rs146092501) (human)	PMID:30226566|REF_RGD_ID:401851058
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:8577	ulcerative colitis		ISO	RGD:1318630	D	RGD:9068941	20231109	RGD		protein:increased expression:serum (human)	PMID:32245981|REF_RGD_ID:401900121
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:8778	Crohn's disease		ISO	RGD:1318630	D	RGD:9068941	20231109	RGD		protein:increased expression:serum (human)	PMID:32245981|REF_RGD_ID:401900121
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9000495	Tremor		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9001510	Funnel Chest		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1318630	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1318630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9003816	Macrocephaly		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:15689448|PMID:19344236|PMID:24038877|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27854213|PMID:28492532|PMID:7695699|PMID:8218237
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:18366090|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:20301676|PMID:20976770|PMID:25741868|PMID:26004199|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1318630	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:24271325|PMID:24332716|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1318630	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:15689448|PMID:24332716|PMID:25741868|PMID:26004199|PMID:26467025|PMID:26872670|PMID:27708273|PMID:27854218|PMID:28492532|PMID:28562329|PMID:37091313
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15689448|PMID:20981092|PMID:23572247|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1318630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
12085160	COL6A3	collagen type VI alpha 3 chain	gene	DOID:9884	muscular dystrophy	susceptibility	ISO	RGD:1318630	D	RGD:9068941	20200609	RGD		Bethlem myopathy, OMIM:158810;DNA:missense mutation	PMID:9536084|REF_RGD_ID:1600940
12085235	ZNF436	zinc finger protein 436	gene	DOID:1909	melanoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085235	ZNF436	zinc finger protein 436	gene	DOID:4362	cervical cancer		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085235	ZNF436	zinc finger protein 436	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085235	ZNF436	zinc finger protein 436	gene	DOID:5041	esophageal cancer		ISO	RGD:1321577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085235	ZNF436	zinc finger protein 436	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085235	ZNF436	zinc finger protein 436	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:0060260	ptosis		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:7240710	20180130	OMIM			
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1319816	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 2C | ClinVar Annotator: match by term: Rambam Hasharon syndrome | ClinVar Annotator: match by term: SLC35C1-related condition	PMID:11326279|PMID:11326280|PMID:16455955|PMID:23806237|PMID:24033266|PMID:24403049|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29030401|PMID:32313197|PMID:33144682|PMID:33413482|PMID:35338746
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:10283	prostate cancer		ISO	RGD:1319816	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:10283	prostate cancer		ISO	RGD:1319816	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:1459	hypothyroidism		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:1909	melanoma		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:630	genetic disease		ISO	RGD:1319816	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12085261	SLC35C1	solute carrier family 35 member C1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:1115	sarcoma		ISO	RGD:733243	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:1324	lung cancer		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:1909	melanoma		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:3070	high grade glioma		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:733243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085278	PIP4K2C	phosphatidylinositol-5-phosphate 4-kinase type 2 gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085292	NUDT2	nudix hydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085292	NUDT2	nudix hydrolase 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085292	NUDT2	nudix hydrolase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:1143	exotropia		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:11720	distal myopathy		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:11782	astigmatism		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9000579	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY		ISO	RGD:1352613	D	RGD:7240710	20220629	OMIM			
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9000579	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY		ISO	RGD:1352613	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with or without peripheral neuropathy	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9001031	Retrognathia		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1352613	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20533549
12085292	NUDT2	nudix hydrolase 2	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1352613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:27431290|PMID:28492532|PMID:30059600|PMID:31607746|PMID:33058507|PMID:38141063
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1318264	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318263	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:1324	lung cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:3275	thymoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085328	MYBL2	MYB proto-oncogene like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1623681	D	RGD:9068941	20251127	MouseDO			
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1344377	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:0110645	long QT syndrome 2	susceptibility	ISO	RGD:1344377	D	RGD:7240710	20230505	OMIM			
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085347	ALG10	ALG10 alpha-1,2-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1317646	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:1143	exotropia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:543	dystonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9001121	Platybasia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Platybasia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9001809	Urinary Retention		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary retention	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085354	PAPSS1	3'-phosphoadenosine 5'-phosphosulfate synthase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085372	C9H17orf58	chromosome 9 C17orf58 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12085372	C9H17orf58	chromosome 9 C17orf58 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085372	C9H17orf58	chromosome 9 C17orf58 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:1883	hepatitis C	severity	ISO	RGD:1316895	D	RGD:9068941	20210423	RGD		DNA:SNP:intron: (human)	PMID:15063762|REF_RGD_ID:126790487
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:3275	thymoma		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085378	GRAP2	GRB2 related adaptor protein 2	gene	DOID:9007278	Anaphylaxis	ameliorates	ISO	RGD:1552736	D	RGD:9068941	20210423	RGD			PMID:18664516|REF_RGD_ID:126790488
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:3631078|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10473568|PMID:10506123|PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:34193099|PMID:3631078|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:1221956|PMID:15211654|PMID:16199547|PMID:1640425|PMID:17576681|PMID:18158310|PMID:20691685|PMID:20809901|PMID:23956117|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:15211654|PMID:16199547|PMID:17576681|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:15211654|PMID:16199547|PMID:17576681|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:28882145|PMID:30914273|PMID:31278392|PMID:31614862|PMID:32429945|PMID:38431799|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1354325	D	RGD:7240710	20200826	OMIM			
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0080738	Ehlers-Danlos syndrome spondylodysplastic type 1		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: B4GALT7-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 1 | ClinVar Annotator: match by term: XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY	PMID:10506123|PMID:15211654|PMID:17576681|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:29931299|PMID:30914273|PMID:31278392|PMID:31614862|PMID:34193099|PMID:38431799|PMID:9536098
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:0111508	Torrance type platyspondylic dysplasia		ISO	RGD:1354325	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lethal skeletal dysplasia	PMID:25741868|PMID:28492532|PMID:31278392
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:1115	sarcoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:13359	Ehlers-Danlos syndrome	susceptibility	ISO	RGD:1354325	D	RGD:9068941	20200609	RGD		DNA:transition:exon;808C>T	PMID:10473568|REF_RGD_ID:1599433
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:1596	depressive disorder		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:2030	anxiety disorder		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:2841	asthma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:3275	thymoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1354325	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:630	genetic disease		ISO	RGD:1354325	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25533962|PMID:25741868|PMID:26940150|PMID:28306225|PMID:28492532|PMID:31614862|PMID:38431799
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9003507	Premature Birth		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9005077	Joint Instability		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354325	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:15211654|PMID:20691685|PMID:20809901|PMID:24755949|PMID:25533962|PMID:25741868|PMID:28492532|PMID:31278392
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1354325	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9008023	Memory Disorders		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1354325	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12085405	B4GALT7	beta-1,4-galactosyltransferase 7	gene	DOID:9970	obesity		ISO	RGD:1354325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12085416	ADGRF4	adhesion G protein-coupled receptor F4	gene	DOID:4362	cervical cancer		ISO	RGD:1315496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085416	ADGRF4	adhesion G protein-coupled receptor F4	gene	DOID:5419	schizophrenia		ISO	RGD:1315496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12085416	ADGRF4	adhesion G protein-coupled receptor F4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085432	DSEL	dermatan sulfate epimerase like	gene	DOID:1115	sarcoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085432	DSEL	dermatan sulfate epimerase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085432	DSEL	dermatan sulfate epimerase like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12085432	DSEL	dermatan sulfate epimerase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085432	DSEL	dermatan sulfate epimerase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085442	HPN	hepsin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085442	HPN	hepsin	gene	DOID:1059	intellectual disability		ISO	RGD:732957	D	RGD:9068941	20231109	RGD		DNA:SNP:CDS:multiple (human)	PMID:35642741|REF_RGD_ID:401854249
12085442	HPN	hepsin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085442	HPN	hepsin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085442	HPN	hepsin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422|PMID:16783571
12085442	HPN	hepsin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085442	HPN	hepsin	gene	DOID:9455	lipid storage disease		ISO	RGD:732957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414
12085465	CRTAP	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:7240710	20180130	OMIM			
12085465	CRTAP	cartilage associated protein	gene	DOID:0110337	osteogenesis imperfecta type 7		ISO	RGD:1320245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE VII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 7 | ClinVar Annotator: match by term: Osteogenesis imperfecta, perinatal lethal autosomal recessive | ClinVar Annotator: match by term: osteogenesis imperfecta type 7	PMID:16199547|PMID:17055431|PMID:17192541|PMID:17576681|PMID:18414213|PMID:18566967|PMID:18996919|PMID:19550437|PMID:19846465|PMID:19862557|PMID:21955071|PMID:21964860|PMID:24033266|PMID:24715559|PMID:25604815|PMID:25741868|PMID:26634552|PMID:27509835|PMID:28116328|PMID:28492532|PMID:29150909|PMID:31742715|PMID:32169308|PMID:32922437|PMID:33093841|PMID:34627339|PMID:35186396|PMID:35313637|PMID:9536098
12085465	CRTAP	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:17192541|PMID:18996919|PMID:19550437|PMID:24033266|PMID:25741868|PMID:28492532
12085465	CRTAP	cartilage associated protein	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:26634552|PMID:28492532|PMID:32169308|PMID:35313637
12085465	CRTAP	cartilage associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085465	CRTAP	cartilage associated protein	gene	DOID:630	genetic disease		ISO	RGD:1320245	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12085465	CRTAP	cartilage associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
12085465	CRTAP	cartilage associated protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12085465	CRTAP	cartilage associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085465	CRTAP	cartilage associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
12085465	CRTAP	cartilage associated protein	gene	DOID:9970	obesity		ISO	RGD:1320245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16199547|PMID:17055431|PMID:18996919|PMID:19550437|PMID:19862557|PMID:24033266|PMID:24715559|PMID:25741868|PMID:28492532
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:0060058	lymphoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:1115	sarcoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:1909	melanoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:3275	thymoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085481	CCDC125	coiled-coil domain containing 125	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604973	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085500	H2BC4	H2B clustered histone 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344863	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12085500	H2BC4	H2B clustered histone 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344863	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12085500	H2BC4	H2B clustered histone 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344863	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
12085513	LRP8	LDL receptor related protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:0060903	thrombosis		ISO	RGD:1313933	D	RGD:9068941	20200609	RGD		associated with Antiphospholipid Syndrome	PMID:21119114|REF_RGD_ID:6483062
12085513	LRP8	LDL receptor related protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:2622T>C (human)	PMID:12399018|REF_RGD_ID:6483064
12085513	LRP8	LDL receptor related protein 8	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple	PMID:20208369|REF_RGD_ID:6483065
12085513	LRP8	LDL receptor related protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:1307	dementia		ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.R952Q (human)	PMID:17614163|REF_RGD_ID:6483063
12085513	LRP8	LDL receptor related protein 8	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R952Q (human)	PMID:18592168|REF_RGD_ID:2306125
12085513	LRP8	LDL receptor related protein 8	gene	DOID:3393	coronary artery disease	onset	ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R952Q (human)	PMID:17847002|REF_RGD_ID:2306124
12085513	LRP8	LDL receptor related protein 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313932	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5419	schizophrenia		ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:SNP, missense mutation:exon, cds: (rs2297660, rs3737983) (human)	PMID:22419519|REF_RGD_ID:6483059
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction		ISO	RGD:1313932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRP8-related condition | ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:25741868|PMID:28492532
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R952Q (human)	PMID:18592168|REF_RGD_ID:2306125
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	onset	ISO	RGD:1313932	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R952Q (human)	PMID:17847002|REF_RGD_ID:2306124
12085513	LRP8	LDL receptor related protein 8	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1313932	D	RGD:7240710	20190502	OMIM			
12085513	LRP8	LDL receptor related protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085513	LRP8	LDL receptor related protein 8	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1313932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18172410
12085513	LRP8	LDL receptor related protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085557	TMEM132E	transmembrane protein 132E	gene	DOID:0111634	autosomal recessive nonsyndromic deafness 99		ISO	RGD:1603364	D	RGD:7240710	20190710	OMIM			
12085557	TMEM132E	transmembrane protein 132E	gene	DOID:0111634	autosomal recessive nonsyndromic deafness 99		ISO	RGD:1603364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 99 | ClinVar Annotator: match by term: TMEM132E-related condition	PMID:25741868|PMID:26467025|PMID:28492532
12085557	TMEM132E	transmembrane protein 132E	gene	DOID:5041	esophageal cancer		ISO	RGD:1603364	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085557	TMEM132E	transmembrane protein 132E	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603364	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vitamin D-resistant rickets,  X-linked	PMID:10469281|PMID:16822791|PMID:16861240|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:30581818|PMID:36646056|PMID:40794449|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0050699	Dent disease		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dent disease | ClinVar Annotator: match by term: Dent's disease	PMID:10906159|PMID:11136179|PMID:15719255|PMID:15895257|PMID:16822791|PMID:18038239|PMID:19076289|PMID:19546586|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:27889724|PMID:28492532|PMID:31672324|PMID:32683654|PMID:9328929
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0080204	renal hypoplasia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0080353	X-linked recessive hypophosphatemic rickets		ISO	RGD:733029	D	RGD:7240710	20181017	OMIM			
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0080353	X-linked recessive hypophosphatemic rickets		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets, X-linked recessive	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9328929|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0081453	Dent disease 1		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0081453	Dent disease 1		ISO	RGD:733029	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENT DISEASE 1 | ClinVar Annotator: match by term: NEPHROLITHIASIS, HYPERCALCIURIC, X-LINKED | ClinVar Annotator: match by term: Nephrolithiasis 2	PMID:19546591|PMID:19673950|PMID:22083641|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:28492532|PMID:28580211|PMID:29391272|PMID:31672324|PMID:40794449|PMID:8559248|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111365	benign familial hematuria		ISO	RGD:733029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:29391272|PMID:31672324|PMID:40794449|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111798	X-linked nephrolithiasis type I		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111798	X-linked nephrolithiasis type I		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHROLITHIASIS, X-LINKED RECESSIVE | ClinVar Annotator: match by term: UROLITHIASIS, X-LINKED RECESSIVE, TYPE 1 | ClinVar Annotator: match by term: X-linked recessive nephrolithiasis with renal failure	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9328929|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis		ISO	RGD:733029	D	RGD:7240710	20180130	OMIM			
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:0111815	low molecular weight proteinuria with hypercalciuric nephrocalcinosis		ISO	RGD:733029	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS | ClinVar Annotator: match by term: Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis	PMID:10469281|PMID:11136179|PMID:12637640|PMID:15086899|PMID:15125028|PMID:15719255|PMID:15814539|PMID:15895257|PMID:16822791|PMID:16861240|PMID:18038239|PMID:19019917|PMID:19076289|PMID:19546586|PMID:19546591|PMID:19657328|PMID:22083641|PMID:22876375|PMID:23566014|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:27117801|PMID:27889724|PMID:28492532|PMID:28580211|PMID:29058463|PMID:29391272|PMID:29459630|PMID:30581818|PMID:30773290|PMID:31328266|PMID:31672324|PMID:31674016|PMID:32683654|PMID:33532864|PMID:35738466|PMID:36646056|PMID:36726441|PMID:40133227|PMID:40794449|PMID:8559248|PMID:9062355|PMID:9328929|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1063	interstitial nephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial nephritis	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1115	sarcoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:733029	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:15086899|PMID:15895257|PMID:19657328|PMID:22083641|PMID:23566014|PMID:25741868|PMID:25907713|PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:12176	goiter		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16306076
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis | ClinVar Annotator: match by term: nephrocalcinosis	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:12712	nephronophthisis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1324	lung cancer		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1697	ichthyosis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1826	epilepsy		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1909	melanoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:1920	hyperuricemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:2921	glomerulonephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:25907713|PMID:32201916
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:2975	cystic kidney disease		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:3070	high grade glioma		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12843258
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:447	renal tubular transport disease		ISO	RGD:2362	D	RGD:9068941	20200609	RGD			PMID:12475763|REF_RGD_ID:628538
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:4500	hypokalemia		ISO	RGD:733029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypokalemia	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:5041	esophageal cancer		ISO	RGD:733029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:576	proteinuria		ISO	RGD:733029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:19673950|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:29391272|PMID:31672324|PMID:40794449|PMID:8559248|PMID:9259268|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:585	nephrolithiasis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:25741868|PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:630	genetic disease		ISO	RGD:733029	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10906159|PMID:22876375|PMID:25741868|PMID:25907713|PMID:28492532|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:784	chronic kidney disease		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9000363	Hematuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets	PMID:10469281|PMID:16822791|PMID:16861240|PMID:22876375|PMID:24081861|PMID:25525159|PMID:25741868|PMID:25907713|PMID:28492532|PMID:30581818|PMID:36646056|PMID:40794449|PMID:9734595
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9001533	Flatulence		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Flatulence	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9001738	Hypercalciuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria | ClinVar Annotator: match by term: hypercalciuria	PMID:22876375|PMID:25741868|PMID:25907713|PMID:28492532|PMID:38002082
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9001961	Hyperkalemia		ISO	RGD:733029	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperkalemia	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:22876375|PMID:25907713|PMID:28492532|PMID:38002082
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9002315	Kidney Calculi		ISO	RGD:733029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:24081861|PMID:25741868|PMID:8559248
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9004898	Jaundice		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9005274	Polyuria		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9006727	Polydipsia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydipsia	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733029	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12637640|PMID:15086899|PMID:15814539|PMID:15895257|PMID:16822791|PMID:19546591|PMID:22876375|PMID:24081861|PMID:25741868|PMID:25907713|PMID:28492532|PMID:28580211|PMID:31672324|PMID:31674016|PMID:35738466|PMID:36726441|PMID:9328929
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9007389	Acute Tubulointerstitial Nephritis		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute tubulointerstitial nephritis	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:733029	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:24081861|PMID:25741868|PMID:8559248
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:733029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9007661	Dwarfism		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9007740	Familial Hypophosphatemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphaturia	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9009050	Hypocalcemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9565	dextrocardia		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:15895257|PMID:16822791|PMID:18184518|PMID:19076289|PMID:19546586|PMID:25741868
12085580	CLCN5	chloride voltage-gated channel 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	
12085609	PDCD6	programmed cell death 6	gene	DOID:3275	thymoma		ISO	RGD:1322592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085621	JAML	junction adhesion molecule like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085621	JAML	junction adhesion molecule like	gene	DOID:10534	stomach cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085621	JAML	junction adhesion molecule like	gene	DOID:1115	sarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085621	JAML	junction adhesion molecule like	gene	DOID:1324	lung cancer		ISO	RGD:1344740	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085621	JAML	junction adhesion molecule like	gene	DOID:4362	cervical cancer		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085621	JAML	junction adhesion molecule like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085621	JAML	junction adhesion molecule like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085621	JAML	junction adhesion molecule like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12085621	JAML	junction adhesion molecule like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1602116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:6039	uveal melanoma		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085635	CIAO2B	cytosolic iron-sulfur assembly component 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085643	CSF1	colony stimulating factor 1	gene	DOID:0050169	cutaneous lupus erythematosus		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:18981160|REF_RGD_ID:7257572
12085643	CSF1	colony stimulating factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:17659436|REF_RGD_ID:7257589
12085643	CSF1	colony stimulating factor 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:21885670|REF_RGD_ID:7257567
12085643	CSF1	colony stimulating factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:731066	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12085643	CSF1	colony stimulating factor 1	gene	DOID:0080600	COVID-19	severity	ISO	RGD:731066	D	RGD:9068941	20200618	RGD		protein:increased expression:plasma (human)	PMID:32360286|REF_RGD_ID:30309209
12085643	CSF1	colony stimulating factor 1	gene	DOID:1115	sarcoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:1324	lung cancer		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085643	CSF1	colony stimulating factor 1	gene	DOID:13533	osteopetrosis		ISO	RGD:621063	D	RGD:9068941	20200609	RGD		DNA:insertion:cds (rat)	PMID:12379742|REF_RGD_ID:628338
12085643	CSF1	colony stimulating factor 1	gene	DOID:13533	osteopetrosis		ISO	RGD:731067	D	RGD:9068941	20220825	MouseDO			
12085643	CSF1	colony stimulating factor 1	gene	DOID:13949	interstitial cystitis	treatment	ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:22441309|REF_RGD_ID:7241234
12085643	CSF1	colony stimulating factor 1	gene	DOID:1612	breast cancer		ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:18172291|REF_RGD_ID:2293639
12085643	CSF1	colony stimulating factor 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:731066	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12085643	CSF1	colony stimulating factor 1	gene	DOID:1936	atherosclerosis		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:16166801|REF_RGD_ID:7257575
12085643	CSF1	colony stimulating factor 1	gene	DOID:1936	atherosclerosis		ISO	RGD:731067	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (mouse)	PMID:9637704|REF_RGD_ID:734837
12085643	CSF1	colony stimulating factor 1	gene	DOID:289	endometriosis		ISO	RGD:731066	D	RGD:9068941	20200813	RGD		protein:increased expression:peritoneal fluid (human)	PMID:22365076|REF_RGD_ID:38500240
12085643	CSF1	colony stimulating factor 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:11477167|REF_RGD_ID:7257579
12085643	CSF1	colony stimulating factor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:23143303|REF_RGD_ID:7257565
12085643	CSF1	colony stimulating factor 1	gene	DOID:3070	high grade glioma		ISO	RGD:621063	D	RGD:9068941	20200609	RGD			PMID:15728459|REF_RGD_ID:2293641
12085643	CSF1	colony stimulating factor 1	gene	DOID:3275	thymoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:621063	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:22700848|REF_RGD_ID:7257593
12085643	CSF1	colony stimulating factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085643	CSF1	colony stimulating factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085643	CSF1	colony stimulating factor 1	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:621063	D	RGD:9068941	20200609	RGD			PMID:19242505|REF_RGD_ID:7257569
12085643	CSF1	colony stimulating factor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:16951369|REF_RGD_ID:7257574
12085643	CSF1	colony stimulating factor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:731067	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:23628901|REF_RGD_ID:7257564
12085643	CSF1	colony stimulating factor 1	gene	DOID:5408	Paget disease of bone		ISO	RGD:731066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436471
12085643	CSF1	colony stimulating factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:783	end stage renal disease		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:11340249|REF_RGD_ID:7257586
12085643	CSF1	colony stimulating factor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:621063	D	RGD:9068941	20200609	RGD			PMID:9158105|REF_RGD_ID:1641957
12085643	CSF1	colony stimulating factor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:18510570|REF_RGD_ID:2293638
12085643	CSF1	colony stimulating factor 1	gene	DOID:9001542	Albuminuria	treatment	ISO	RGD:621063	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia and Diabetes Mellitus, Experimental	PMID:8573750|REF_RGD_ID:7257591
12085643	CSF1	colony stimulating factor 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:731066	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism	PMID:32068018
12085643	CSF1	colony stimulating factor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:621063	D	RGD:9068941	20210709	RGD		protein:increased expression:dorsal root ganglion	PMID:32510872|REF_RGD_ID:127338469
12085643	CSF1	colony stimulating factor 1	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:621063	D	RGD:9068941	20200609	RGD		protein:increased expression:facial VII nerve, microglial cell	PMID:20831658|REF_RGD_ID:5131509
12085643	CSF1	colony stimulating factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12085643	CSF1	colony stimulating factor 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:621063	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:11981428|REF_RGD_ID:7257590
12085643	CSF1	colony stimulating factor 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19196448|REF_RGD_ID:7257570
12085643	CSF1	colony stimulating factor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:15205327|REF_RGD_ID:2293710
12085643	CSF1	colony stimulating factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621063	D	RGD:9068941	20220407	RGD		mRNA,protein:increased expression:retina (rat)	PMID:19219684|REF_RGD_ID:151665779
12085643	CSF1	colony stimulating factor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19196448|REF_RGD_ID:7257570
12085643	CSF1	colony stimulating factor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:23143303|REF_RGD_ID:7257565
12085643	CSF1	colony stimulating factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085643	CSF1	colony stimulating factor 1	gene	DOID:9007083	Edentulous Mouth		ISO	RGD:621063	D	RGD:9068941	20210219	RGD			PMID:12379742|REF_RGD_ID:628338
12085643	CSF1	colony stimulating factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16618760
12085643	CSF1	colony stimulating factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:16618760|REF_RGD_ID:2293640
12085643	CSF1	colony stimulating factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085643	CSF1	colony stimulating factor 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:731067	D	RGD:9068941	20200609	RGD			PMID:15383612|REF_RGD_ID:7257578
12085643	CSF1	colony stimulating factor 1	gene	DOID:9120	amyloidosis		ISO	RGD:731066	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:12038073|REF_RGD_ID:7257581
12085643	CSF1	colony stimulating factor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:731066	D	RGD:9068941	20200609	RGD			PMID:12110011|REF_RGD_ID:7257580
12085669	POLR1G	RNA polymerase I subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085669	POLR1G	RNA polymerase I subunit G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085669	POLR1G	RNA polymerase I subunit G	gene	DOID:9538	multiple myeloma	sexual_dimorphism	ISO	RGD:1606023	D	RGD:9068941	20230928	RGD		DNA:SNP:exon 1: p.G-21A (rs967591) (human)	PMID:17131345|REF_RGD_ID:401827277
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085698	LIME1	Lck interacting transmembrane adaptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085709	PLIN1	perilipin 1	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:733482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12085709	PLIN1	perilipin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085709	PLIN1	perilipin 1	gene	DOID:0070205	familial partial lipodystrophy type 4		ISO	RGD:733482	D	RGD:7240710	20180912	OMIM			
12085709	PLIN1	perilipin 1	gene	DOID:0070205	familial partial lipodystrophy type 4		ISO	RGD:733482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, ASSOCIATED WITH PLIN1 MUTATIONS | ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4 | ClinVar Annotator: match by term: PLIN1-related condition | ClinVar Annotator: match by term: PLIN1-related familial partial lipodystrophy	PMID:18414213|PMID:25741868|PMID:28492532
12085709	PLIN1	perilipin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085709	PLIN1	perilipin 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:733482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868
12085709	PLIN1	perilipin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085709	PLIN1	perilipin 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:733482	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:18414213|PMID:25741868|PMID:28492532
12085709	PLIN1	perilipin 1	gene	DOID:9970	obesity		ISO	RGD:733482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15001633
12085709	PLIN1	perilipin 1	gene	DOID:9970	obesity	susceptibility	ISO	RGD:733482	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.11482G>A (human)	PMID:15985482|REF_RGD_ID:1581041
12085709	PLIN1	perilipin 1	gene	DOID:9970	obesity	susceptibility	ISO	RGD:736220	D	RGD:9068941	20200609	RGD			PMID:11371650|REF_RGD_ID:737723
12085724	MIR133C	microRNA mir-133c	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1343982	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12085724	MIR133C	microRNA mir-133c	gene	DOID:6000	congestive heart failure		ISO	RGD:1343982	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
12085724	MIR133C	microRNA mir-133c	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1607569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28751527
12085791	POP5	POP5 homolog, ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085791	POP5	POP5 homolog, ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0050860	colorectal adenoma		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:21122381|PMID:23082052|REF_RGD_ID:13217408|REF_RGD_ID:13217413
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0051061	stroke		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:10773432|REF_RGD_ID:1582317
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:621506	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:adipose tissue, liver (rat)	PMID:27909723|REF_RGD_ID:150340686
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:621506	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:24404139|REF_RGD_ID:13506784
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:621506	D	RGD:9068941	20240203	RGD			PMID:20581854|REF_RGD_ID:401965387
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:10534	stomach cancer		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:732271	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,CA1 field of hippocampus:	PMID:11208906|REF_RGD_ID:10412676
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:10763	hypertension		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:15302844|REF_RGD_ID:1582315
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:23341606|REF_RGD_ID:10412675
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:1115	sarcoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:11168	anogenital venereal wart	treatment	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		mRNA:increased expression:zone of skin (human)	PMID:25774455|REF_RGD_ID:36174028
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:12205	dengue disease		ISO	RGD:732272	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:liver (mouse)	PMID:28188818|REF_RGD_ID:150340680
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:1508	candidiasis	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:28112734|REF_RGD_ID:150340684
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:1574	alcohol use disorder		ISO	RGD:621506	D	RGD:9068941	20240125	RGD			PMID:31262967|REF_RGD_ID:401959334
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10508901 (human)	PMID:22199996|REF_RGD_ID:13217410
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10857561 (human)	PMID:23027623|REF_RGD_ID:13217411
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:2058	chronic mucocutaneous candidiasis		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		associated with connective tissue disease;DNA:splice-site mutation:splice junction:c.311+1G>A (human)	PMID:31784499|REF_RGD_ID:150340677
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:2237	hepatitis		ISO	RGD:732272	D	RGD:9068941	20220811	RGD			PMID:25173965|REF_RGD_ID:153305943
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:2316	brain ischemia		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:15797868|REF_RGD_ID:1582325
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:289	endometriosis		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		mRNA:increased expression:peritoneum (human)	PMID:25207642|REF_RGD_ID:150340690
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732272	D	RGD:9068941	20221117	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:34331613|REF_RGD_ID:155663371
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:20699612|REF_RGD_ID:5490968
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3310	atopic dermatitis		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24046278
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:732272	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:pancreas (mouse)	PMID:23237571|REF_RGD_ID:14348975
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3498	pancreatic ductal adenocarcinoma	severity	ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:28837246|REF_RGD_ID:14348974
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:11927625|REF_RGD_ID:150340679
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:increased phosphorylation:pancreas (human)	PMID:24395444|REF_RGD_ID:150340683
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:21894146|REF_RGD_ID:6218988
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:732271	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:621506	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:decreased phosphorylation:liver (human)	PMID:33875785|REF_RGD_ID:150340688
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:16311603|REF_RGD_ID:1582313
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:16311603|REF_RGD_ID:1582313
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:732272	D	RGD:9068941	20210827	RGD		associated with Escherichia Coli Infections	PMID:22514650|REF_RGD_ID:150340681
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18593901
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:22514650|REF_RGD_ID:150340681
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:732272	D	RGD:9068941	20210827	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21307808|REF_RGD_ID:150340689
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002137	Infectious Ectromelia	exacerbates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD			PMID:24673683|REF_RGD_ID:150340678
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD		protein:increased activity:liver:	PMID:11679968|REF_RGD_ID:10412680
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:17591974|REF_RGD_ID:13217412
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002245	Intestinal Neoplasms	treatment	ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:23327547|REF_RGD_ID:13217409
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:19433784|REF_RGD_ID:10412674
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:17591974|REF_RGD_ID:13217412
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:732271	D	RGD:9068941	20200609	RGD			PMID:18460448|REF_RGD_ID:13217414
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:12668503|REF_RGD_ID:1582316
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:16699462|REF_RGD_ID:1582310
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20302854
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:621506	D	RGD:9068941	20210827	RGD			PMID:14662889|REF_RGD_ID:126928138
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17185352
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9005666	Contrast-Induced Nephropathy	treatment	ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:27781957|REF_RGD_ID:13782262
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9005930	Endotoxemia		ISO	RGD:621506	D	RGD:9068941	20210827	RGD		protein:increased phophorylation:hippocampus (rat)	PMID:12207162|REF_RGD_ID:150340687
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9007417	Pseudomonas Infections	ameliorates	ISO	RGD:732272	D	RGD:9068941	20210827	RGD		associated with Pneumonia, Ventilator-Associated	PMID:27506464|REF_RGD_ID:150340682
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732271	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21726611
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621506	D	RGD:9068941	20200609	RGD			PMID:12883833|PMID:15309413|REF_RGD_ID:1582311|REF_RGD_ID:1582312
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621506	D	RGD:9068941	20220923	RGD			PMID:31583047|REF_RGD_ID:155230831
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:732271	D	RGD:9068941	20210827	RGD		protein:increased expression:pyloric antrum (human)	PMID:17643099|REF_RGD_ID:150340691
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9009106	Acute Heart Injury		ISO	RGD:621506	D	RGD:9068941	20260716	RGD		protein:increased expression:cardiomyocyte	PMID:14512277|REF_RGD_ID:1549442
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:621506	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732271	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12085800	MAPK8	mitogen-activated protein kinase 8	gene	DOID:9452	steatotic liver disease		ISO	RGD:732272	D	RGD:9068941	20200609	RGD			PMID:21540183|REF_RGD_ID:9585751
12085832	GPR20	G protein-coupled receptor 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085838	ZNF785	zinc finger protein 785	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12085838	ZNF785	zinc finger protein 785	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085838	ZNF785	zinc finger protein 785	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085846	TMEM170B	transmembrane protein 170B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085846	TMEM170B	transmembrane protein 170B	gene	DOID:1115	sarcoma		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085846	TMEM170B	transmembrane protein 170B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085846	TMEM170B	transmembrane protein 170B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085857	SLAMF1	signaling lymphocytic activation molecule family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085857	SLAMF1	signaling lymphocytic activation molecule family member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12085857	SLAMF1	signaling lymphocytic activation molecule family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344109	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085857	SLAMF1	signaling lymphocytic activation molecule family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085857	SLAMF1	signaling lymphocytic activation molecule family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344109	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:10283	prostate cancer		ISO	RGD:1351668	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:10362802|REF_RGD_ID:2289902
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1351668	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:11733359|REF_RGD_ID:2289901
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:10286	prostate carcinoma		ISO	RGD:1351668	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:14997205|REF_RGD_ID:2289900
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:1115	sarcoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:12849	autistic disorder		ISO	RGD:1351668	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:1612	breast cancer		ISO	RGD:1351668	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:10362802|REF_RGD_ID:2289902
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:1909	melanoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:3275	thymoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351668	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14997205
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1351668	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372905
12085868	EIF3H	eukaryotic translation initiation factor 3 subunit H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351668	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1348095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency | ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:20816094|PMID:21057504|PMID:22200994|PMID:22277967|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26669660|PMID:27290639|PMID:28279569|PMID:28492532|PMID:29142257|PMID:30025539|PMID:30831263|PMID:31658717|PMID:32746448|PMID:33587123|PMID:37432431
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1348095	D	RGD:7240710	20180130	OMIM			
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:0112072	nuclear type mitochondrial complex I deficiency 20		ISO	RGD:1348095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACAD9 deficiency | ClinVar Annotator: match by term: ACAD9-related condition | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase 9 deficiency | ClinVar Annotator: match by term: Acyl-CoA dehydrogenase family, member 9, deficiency of | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 20 | ClinVar Annotator: match by term: acyl-CoA dehydrogenase 9 deficiency	PMID:16199547|PMID:17576681|PMID:20816094|PMID:20929961|PMID:2105750|PMID:21057504|PMID:21680271|PMID:21924235|PMID:22200994|PMID:22277967|PMID:23836383|PMID:23996478|PMID:25326637|PMID:25721401|PMID:25741868|PMID:26467025|PMID:26475292|PMID:26669660|PMID:26826406|PMID:27233227|PMID:27290639|PMID:27438479|PMID:28279569|PMID:28492532|PMID:28529009|PMID:28585276|PMID:29142257|PMID:30025539|PMID:30831263|PMID:31527676|PMID:31658717|PMID:31665838|PMID:32313153|PMID:32746448|PMID:33027564|PMID:33587123|PMID:34023438|PMID:34440436|PMID:34646991|PMID:37240454|PMID:37291213|PMID:37432431|PMID:38703036|PMID:39417332|PMID:9536098
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:30831263
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:20816094|PMID:25721401|PMID:25741868|PMID:26669660|PMID:28492532|PMID:30025539|PMID:30831263
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28492532
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:1891	optic nerve disease		ISO	RGD:1348095	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: optic neuropathy	PMID:16199547|PMID:25721401|PMID:25741868|PMID:26475292|PMID:28492532
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:1909	melanoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532|PMID:30831263
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:3275	thymoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:423	myopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:4362	cervical cancer		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:30831263
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1348095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532|PMID:30831263
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:630	genetic disease		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21057504|PMID:25741868|PMID:28492532
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-Ischemic Cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085880	ACAD9	acyl-CoA dehydrogenase family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1606669	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606669	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085908	SLC46A3	solute carrier family 46 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0050453	lissencephaly		ISO	RGD:1602407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pachygyria | ClinVar Annotator: match by term: lissencephaly	PMID:23001566|PMID:25741868|PMID:28492532|PMID:28677066|PMID:29671837
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0060249	scoliosis		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23001566|PMID:26732629|PMID:28013290|PMID:28835377
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0070297	primary microcephaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:30585108
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0080918	polymicrogyria		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:30585108
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0090132	complex cortical dysplasia with other brain malformations 7		ISO	RGD:1602407	D	RGD:7240710	20180130	OMIM			
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0090132	complex cortical dysplasia with other brain malformations 7		ISO	RGD:1602407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 | ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 | ClinVar Annotator: match by term: Polymicrogyria, symmetric or asymmetric | ClinVar Annotator: match by term: TUBB2B-related condition	PMID:18414213|PMID:19465910|PMID:22333901|PMID:22591407|PMID:23001566|PMID:23361065|PMID:23424103|PMID:24860126|PMID:25140959|PMID:25741868|PMID:26467025|PMID:26732629|PMID:28492532|PMID:30585108|PMID:30704335|PMID:31481326|PMID:31727855|PMID:33776625|PMID:34592644|PMID:35088901|PMID:35726512|PMID:36413997|PMID:8196646|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0090137	complex cortical dysplasia with other brain malformations 1		ISO	RGD:1602407	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 1	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0112227	tubulinopathy		ISO	RGD:1602407	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Tubulinopathy	PMID:28492532
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tubulinopathies	PMID:28492532
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:10907	microcephaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:10908	hydrocephalus		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:11782	astigmatism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:12397	entropion		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Entropion	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:1432	blindness		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:1826	epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:22591407|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:1827	generalized epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:1969	cerebral palsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:2234	focal epilepsy		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:305	carcinoma		ISO	RGD:1602407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:630	genetic disease		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22591407|PMID:23424103|PMID:25741868|PMID:31727855|PMID:8196646|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1602407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9000660	Choristoma		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1602407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9005616	Micrognathism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22591407|PMID:25741868|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:22591407|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997|PMID:9628483
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12085918	LOC478702	tubulin beta-2B chain	gene	DOID:9406	hypopituitarism		ISO	RGD:1602407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:18414213|PMID:23361065|PMID:24860126|PMID:25741868|PMID:28492532|PMID:33776625|PMID:36413997
12085926	STRADB	STE20 related adaptor beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:1115	sarcoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:4362	cervical cancer		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12085926	STRADB	STE20 related adaptor beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085945	RAMAC	RNA guanine-7 methyltransferase activating subunit	gene	DOID:1324	lung cancer		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085945	RAMAC	RNA guanine-7 methyltransferase activating subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:0060058	lymphoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:1115	sarcoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:1909	melanoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:3275	thymoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1354268	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354268	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:35977029
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9005697	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES		ISO	RGD:1354268	D	RGD:7240710	20230920	OMIM			
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9005697	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired language, behavioral abnormalities, and dysmorphic facies	PMID:25741868|PMID:35977029
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12085963	UBAP2L	ubiquitin associated protein 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:10283	prostate cancer		ISO	RGD:1605801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:10283	prostate cancer		ISO	RGD:1605801	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086018	LOC480493	leucine-rich repeat-containing protein 37A3-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:1115	sarcoma		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:3070	high grade glioma		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086019	RUNDC3A	RUN domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086044	LOC480840	uncharacterized LOC480840	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:7240710	20181219	OMIM			
12086044	LOC480840	uncharacterized LOC480840	gene	DOID:0080362	X-linked spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda, X-linked	PMID:25741868
12086044	LOC480840	uncharacterized LOC480840	gene	DOID:0112284	spondyloepiphyseal dysplasia tarda		ISO	RGD:1350228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia tarda	PMID:25741868
12086044	LOC480840	uncharacterized LOC480840	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1350228	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	
12086044	LOC480840	uncharacterized LOC480840	gene	DOID:630	genetic disease		ISO	RGD:1350228	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12086053	PROKR1	prokineticin receptor 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
12086053	PROKR1	prokineticin receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086053	PROKR1	prokineticin receptor 1	gene	DOID:2843	long QT syndrome		ISO	RGD:733659	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12086053	PROKR1	prokineticin receptor 1	gene	DOID:9000641	Pain		ISO	RGD:733659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793879
12086053	PROKR1	prokineticin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793879
12086060	DLX5	distal-less homeobox 5	gene	DOID:0080006	bone development disease		ISO	RGD:733723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10433909
12086060	DLX5	distal-less homeobox 5	gene	DOID:0090020	split hand-foot malformation		ISO	RGD:733723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12086060	DLX5	distal-less homeobox 5	gene	DOID:0090021	split hand-foot malformation 1		ISO	RGD:733723	D	RGD:7240710	20200520	OMIM			
12086060	DLX5	distal-less homeobox 5	gene	DOID:0090021	split hand-foot malformation 1		ISO	RGD:733723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPLIT-HAND/FOOT MALFORMATION 1 | ClinVar Annotator: match by term: Split hand-foot malformation 1	PMID:25741868
12086060	DLX5	distal-less homeobox 5	gene	DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss		ISO	RGD:733723	D	RGD:7240710	20180130	OMIM			
12086060	DLX5	distal-less homeobox 5	gene	DOID:0090024	split hand-foot malformation 1 with sensorineural hearing loss		ISO	RGD:733723	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLX5-related condition | ClinVar Annotator: match by term: Split hand-foot malformation 1 with sensorineural hearing loss | ClinVar Annotator: match by term: split hand-foot malformation 1 with sensorineural hearing loss	PMID:25741868|PMID:28492532
12086060	DLX5	distal-less homeobox 5	gene	DOID:10534	stomach cancer		ISO	RGD:733723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086060	DLX5	distal-less homeobox 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086060	DLX5	distal-less homeobox 5	gene	DOID:1324	lung cancer		ISO	RGD:733723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086060	DLX5	distal-less homeobox 5	gene	DOID:1909	melanoma		ISO	RGD:733723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086060	DLX5	distal-less homeobox 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086060	DLX5	distal-less homeobox 5	gene	DOID:630	genetic disease		ISO	RGD:733723	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12086060	DLX5	distal-less homeobox 5	gene	DOID:9003996	Birth Weight		ISO	RGD:733723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31082282
12086060	DLX5	distal-less homeobox 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10433909|PMID:10433912|PMID:14666512
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:1115	sarcoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:3275	thymoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086071	QPCTL	glutaminyl-peptide cyclotransferase like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350934	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086089	ZNF875	zinc finger protein 875	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1344548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
12086089	ZNF875	zinc finger protein 875	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086089	ZNF875	zinc finger protein 875	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086099	SOX7	SRY-box transcription factor 7	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1320708	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
12086105	KRT84	keratin 84	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086105	KRT84	keratin 84	gene	DOID:1324	lung cancer		ISO	RGD:1343377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086105	KRT84	keratin 84	gene	DOID:4362	cervical cancer		ISO	RGD:1343377	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086117	N6AMT1	N-6 adenine-specific DNA methyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323512	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086117	N6AMT1	N-6 adenine-specific DNA methyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323512	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086117	N6AMT1	N-6 adenine-specific DNA methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086117	N6AMT1	N-6 adenine-specific DNA methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086117	N6AMT1	N-6 adenine-specific DNA methyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12086136	WDR49	WD repeat domain 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086136	WDR49	WD repeat domain 49	gene	DOID:10283	prostate cancer		ISO	RGD:1354020	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12086136	WDR49	WD repeat domain 49	gene	DOID:10283	prostate cancer		ISO	RGD:1354020	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12086136	WDR49	WD repeat domain 49	gene	DOID:10534	stomach cancer		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086136	WDR49	WD repeat domain 49	gene	DOID:1115	sarcoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086136	WDR49	WD repeat domain 49	gene	DOID:4362	cervical cancer		ISO	RGD:1354020	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086136	WDR49	WD repeat domain 49	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086136	WDR49	WD repeat domain 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1354020	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086136	WDR49	WD repeat domain 49	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086136	WDR49	WD repeat domain 49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086136	WDR49	WD repeat domain 49	gene	DOID:9256	colorectal cancer		ISO	RGD:1354020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:0080600	COVID-19		ISO	RGD:1348582	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1348582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12086158	SLITRK4	SLIT and NTRK like family member 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1348582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:1115	sarcoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:1324	lung cancer		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:1909	melanoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:3275	thymoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086192	NIBAN3	niban apoptosis regulator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086212	IQCD	IQ motif containing D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086212	IQCD	IQ motif containing D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350366	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086222	SHC2	SHC adaptor protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:11614221|RGD:11616446|RGD:11627455|RGD:11646391|RGD:11647046|RGD:11665686	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive	
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0061112	retinitis pigmentosa 95		ISO	RGD:1606205	D	RGD:7240710	20221102	OMIM			
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0061112	retinitis pigmentosa 95		ISO	RGD:1606205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 95	PMID:28492532|PMID:30377383
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0110018	age related macular degeneration 6		ISO	RGD:1606205	D	RGD:7240710	20180130	OMIM			
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0110018	age related macular degeneration 6		ISO	RGD:1606205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 6	PMID:15028672|PMID:25741868|PMID:25986607|PMID:28492532|PMID:34662339
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0111018	cone-rod dystrophy 11		ISO	RGD:1606205	D	RGD:7240710	20180130	OMIM			
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:0111018	cone-rod dystrophy 11		ISO	RGD:1606205	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 11 | ClinVar Annotator: match by term: Cone-rod dystrophy 11	PMID:25741868|PMID:25789692|PMID:28492532
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1606205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: retinopathy of prematurity	PMID:25741868
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:8466	retinal degeneration		ISO	RGD:1606205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15028672
12086247	RAX2	retina and anterior neural fold homeobox 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:25789692|PMID:28492532|PMID:30377383|PMID:34662339|PMID:38219857
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050835	generalized dystonia		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:10579	leukodystrophy		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1313330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1313330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9009141	Joubert Syndrome 36		ISO	RGD:1313330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 36	PMID:25741868
12086253	LSM7	LSM7 homolog, U6 small nuclear RNA and mRNA degradation associated	gene	DOID:9009357	Leukodystrophy and cerebellar atrophy		ISO	RGD:1313330	D	RGD:7240710	20250730	OMIM			
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086261	DOLPP1	dolichyldiphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:0060058	lymphoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:10534	stomach cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:1324	lung cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:3070	high grade glioma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:3275	thymoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:6000	congestive heart failure		ISO	RGD:1319628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28347583
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:6039	uveal melanoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:9001371	Eosinophilia		ISO	RGD:1319628	D	RGD:9068941	20200609	RGD		DNA:gene fusion	PMID:23114151|REF_RGD_ID:11075088
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:9001997	Pdgfra-Associated Chronic Eosinophilic Leukemia		ISO	RGD:1319628	D	RGD:9068941	20200609	RGD		DNA:gene fusion	PMID:22806436|REF_RGD_ID:11075089
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12086273	FIP1L1	factor interacting with PAPOLA and CPSF1	gene	DOID:999	hypereosinophilic syndrome		ISO	RGD:1319628	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778211|PMID:28347583|PMID:31036733
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1317594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:translocation	PMID:18987657|REF_RGD_ID:11526155
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0050745	diffuse large B-cell lymphoma	disease_progression	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:15701085|REF_RGD_ID:11530023
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:translocation	PMID:18987657|REF_RGD_ID:11526155
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0050873	follicular lymphoma	severity	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:17296585|REF_RGD_ID:11530032
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0060058	lymphoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:27993330|PMID:36495369|PMID:37935654
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1317594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0060901	lymphoplasmacytic lymphoma		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:23355206|REF_RGD_ID:11530052
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0061125	immunodeficiency 131		ISO	RGD:1317594	D	RGD:7240710	20250219	OMIM			
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0061125	immunodeficiency 131		ISO	RGD:1317594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 131 | ClinVar Annotator: match by term: Immunodeficiency 131	PMID:25741868|PMID:28492532|PMID:36662884|PMID:36917008
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1317595	D	RGD:9068941	20200609	RGD			PMID:20585039|REF_RGD_ID:11530030
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0080600	COVID-19		ISO	RGD:1317594	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12086300	IRF4	interferon regulatory factor 4	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1317595	D	RGD:9068941	20200609	RGD			PMID:20585039|PMID:21818355|PMID:25006123|REF_RGD_ID:11526159|REF_RGD_ID:11530020|REF_RGD_ID:11530030
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs872071 (human)	PMID:20731705|REF_RGD_ID:11530029
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:SNPs:3' utr:multiple	PMID:20123861|REF_RGD_ID:11530031
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.L116R (human)	PMID:21791429|REF_RGD_ID:11526158
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:1317595	D	RGD:9068941	20200609	RGD			PMID:23926303|REF_RGD_ID:11530026
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia	disease_progression	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:20090783|REF_RGD_ID:11530021
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1040	chronic lymphocytic leukemia	disease_progression	ISO	RGD:1317595	D	RGD:9068941	20200609	RGD			PMID:23897826|REF_RGD_ID:11526156
12086300	IRF4	interferon regulatory factor 4	gene	DOID:1240	leukemia	disease_progression	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:23977280|REF_RGD_ID:11526157
12086300	IRF4	interferon regulatory factor 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart	PMID:23589561|REF_RGD_ID:11530060
12086300	IRF4	interferon regulatory factor 4	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330|PMID:36495369|PMID:37935654
12086300	IRF4	interferon regulatory factor 4	gene	DOID:3275	thymoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12086300	IRF4	interferon regulatory factor 4	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1308050	D	RGD:9068941	20200609	RGD			PMID:25652434|REF_RGD_ID:11530061
12086300	IRF4	interferon regulatory factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086300	IRF4	interferon regulatory factor 4	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:26819451|PMID:27993330|PMID:37935654
12086300	IRF4	interferon regulatory factor 4	gene	DOID:8577	ulcerative colitis		ISO	RGD:1317594	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: marker/mechanism	PMID:38164749
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9000752	Skin/Hair/Eye Pigmentation, Variation In, 1		ISO	RGD:1317594	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 1	PMID:25741868
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1317594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:12079517|PMID:12393648|REF_RGD_ID:11526160|REF_RGD_ID:11530024
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1317595	D	RGD:9068941	20200609	RGD			PMID:23589561|REF_RGD_ID:11530060
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1317594	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35915169
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9006853	Skin/Hair/Eye Pigmentation, Variation In, 8		ISO	RGD:1317594	D	RGD:7240710	20221214	OMIM			
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9006853	Skin/Hair/Eye Pigmentation, Variation In, 8		ISO	RGD:1317594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IRF4-related condition | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 8	PMID:25741868|PMID:28492532
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1317594	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: marker/mechanism	PMID:38164749
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1317594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18568025
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:translocation	PMID:10557056|REF_RGD_ID:11526161
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:17690696|REF_RGD_ID:11530019
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1317594	D	RGD:9068941	20200609	RGD			PMID:21707574|REF_RGD_ID:11530055
12086300	IRF4	interferon regulatory factor 4	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317594	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs12203592 (human)	PMID:19897031|REF_RGD_ID:11526162
12086314	ZNF79	zinc finger protein 79	gene	DOID:10534	stomach cancer		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086314	ZNF79	zinc finger protein 79	gene	DOID:1115	sarcoma		ISO	RGD:1350135	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086314	ZNF79	zinc finger protein 79	gene	DOID:1909	melanoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086314	ZNF79	zinc finger protein 79	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086314	ZNF79	zinc finger protein 79	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086314	ZNF79	zinc finger protein 79	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086314	ZNF79	zinc finger protein 79	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350135	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086323	ZNF510	zinc finger protein 510	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086323	ZNF510	zinc finger protein 510	gene	DOID:2394	ovarian cancer		ISO	RGD:1345526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12086323	ZNF510	zinc finger protein 510	gene	DOID:3275	thymoma		ISO	RGD:1345526	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086323	ZNF510	zinc finger protein 510	gene	DOID:4362	cervical cancer		ISO	RGD:1345526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086323	ZNF510	zinc finger protein 510	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086323	ZNF510	zinc finger protein 510	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:26823728|REF_RGD_ID:13792679
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27375172|REF_RGD_ID:13792673
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:0060108	brain glioma		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:26032618|REF_RGD_ID:13792685
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10619	D	RGD:9068941	20200609	RGD		protein:decreased activity:cerebral cortex, cerebellum	PMID:17324518|REF_RGD_ID:13792614
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		protein:decreased activity:cerebral cortex, hippocampus	PMID:17324518|REF_RGD_ID:13792614
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:12858	Huntington's disease		ISO	RGD:10619	D	RGD:9068941	20200609	RGD			PMID:26268247|REF_RGD_ID:13792684
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:1826	epilepsy		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:30143487|REF_RGD_ID:13792618
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:25882840|REF_RGD_ID:13792686
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18852331|REF_RGD_ID:2315975
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27256506|REF_RGD_ID:13792677
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:2661	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression,decreased activity:embryo	PMID:12716756|REF_RGD_ID:2315979
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:30195603|REF_RGD_ID:13792615
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27655796|REF_RGD_ID:13792671
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27129213|REF_RGD_ID:11574725
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10619	D	RGD:9068941	20200609	RGD		protein:decreased acetylation	PMID:28258188|REF_RGD_ID:13792662
12086354	LOC100688969	glyceraldehyde-3-phosphate dehydrogenase-like	gene	DOID:9970	obesity	treatment	ISO	RGD:2661	D	RGD:9068941	20200609	RGD			PMID:27987997|REF_RGD_ID:13792668
12086363	SFXN2	sideroflexin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086363	SFXN2	sideroflexin 2	gene	DOID:1324	lung cancer		ISO	RGD:1314569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086363	SFXN2	sideroflexin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086363	SFXN2	sideroflexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086363	SFXN2	sideroflexin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086363	SFXN2	sideroflexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086400	MIR582	microRNA mir-582	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1603093	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:1115	sarcoma		ISO	RGD:1343175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1343175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:6039	uveal melanoma		ISO	RGD:1343175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086429	LOC102154391	zinc finger protein 77-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:1115	sarcoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1342842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1342842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12086485	HSD17B13	hydroxysteroid 17-beta dehydrogenase 13	gene	DOID:9452	steatotic liver disease		ISO	RGD:1342842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HSD17B13 POLYMORPHISM	
12086497	ZNF180	zinc finger protein 180	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348239	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086497	ZNF180	zinc finger protein 180	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086497	ZNF180	zinc finger protein 180	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0040088	autoimmune uveitis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a rat model	PMID:28011398|REF_RGD_ID:150520199
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0050012	chikungunya		ISO	RGD:1345686	D	RGD:9068941	20210122	RGD		protein:increased expression:blood serum (human)	PMID:31365117|REF_RGD_ID:40925935
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0050598	extrapulmonary tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:16001981|REF_RGD_ID:39939055
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0050742	nicotine dependence		ISO	RGD:1345686	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0060180	colitis		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		associated with Helicobacter Infections;mRNA:decreased expression:colon (mouse, Helicobacter hepaticus)	PMID:17242461|REF_RGD_ID:38549339
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200613	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1345686	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32161940
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma (human)	PMID:33197260|REF_RGD_ID:150523790
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1345686	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32297828|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238|REF_RGD_ID:32716368
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080784	urinary tract infection	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a mouse model	PMID:28011398|REF_RGD_ID:150520199
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:0080810	acute asthma	treatment	ISO	RGD:1345686	D	RGD:9068941	20210122	RGD			PMID:30059697|REF_RGD_ID:39939057
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:10113	trypanosomiasis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:25375156|REF_RGD_ID:150521552
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1024	leprosy	severity	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		DNA:SNP:promoter:g.-353T>A (rs4073) (human)	PMID:30303246|REF_RGD_ID:40400755
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:10459	common cold	treatment	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD			PMID:28343401|REF_RGD_ID:150521550
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:10533	viral pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:10534	stomach cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:10754	otitis media		ISO	RGD:8772136	D	RGD:9068941	20200609	RGD			PMID:10085040|REF_RGD_ID:11553900
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:11077	brucellosis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T (human)	PMID:24076593|REF_RGD_ID:150523788
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:11265	trachoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:promoter:g.-251A>T (rs4073) (human)	PMID:20015396|REF_RGD_ID:150520200
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:11394	adult respiratory distress syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with toxic shock syndrome;DNA:SNP:promoter:g.-251A>T (human)	PMID:22897124|REF_RGD_ID:150523785
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:11934	head and neck cancer	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1205	allergic disease		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:12053	cryptococcosis		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		mRNA:increased expression:lung (mouse)	PMID:27596810|REF_RGD_ID:38549345
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:21731723|REF_RGD_ID:26884357
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26220752
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:nasopharynx(human)	PMID:29325581|REF_RGD_ID:150521551
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13078	eumycotic mycetoma		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251T>A (human)	PMID:17709521|REF_RGD_ID:150523787
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1324	lung cancer		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13241	Behcet's disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8712863
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD			PMID:11207292|REF_RGD_ID:38549344
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13580	cholestasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13608	biliary atresia		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:24493287|REF_RGD_ID:26884361
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:13976	peptic esophagitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18193101
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:14250	Down syndrome		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1345686	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674|PMID:28377727
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1793	pancreatic cancer		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18307536
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:24493287|REF_RGD_ID:26884361
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:1883	hepatitis C		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:blood serum (human)	PMID:28163109|REF_RGD_ID:150521548
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:vaginal fluid (human)	PMID:18243333|REF_RGD_ID:150523783
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2377	multiple sclerosis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20138139|REF_RGD_ID:5134999
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2755	Mycobacterium avium complex disease		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma, erythrocyte (human)	PMID:26300588|REF_RGD_ID:11250849
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:289	endometriosis		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:peritoneal fluid (human)	PMID:25704572|PMID:29962266|REF_RGD_ID:150520017|REF_RGD_ID:150521547
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2921	glomerulonephritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10910440|PMID:9403216
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200625	RGD		protein:increased expression:plasma (human)	PMID:14514395|REF_RGD_ID:30309961
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1345686	D	RGD:9068941	20200709	RGD		protein:increased expression:serum (human)	PMID:15271897|REF_RGD_ID:32716401
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200702	RGD		protein:increased expression:blood (human)	PMID:15472864|REF_RGD_ID:34888224
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:16195357|REF_RGD_ID:30309218
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1345686	D	RGD:9068941	20200619	RGD		protein:increased expression:serum (human)	PMID:15657466|REF_RGD_ID:30309219
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1345686	D	RGD:9068941	20200702	RGD			PMID:15865221|REF_RGD_ID:33769580
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:16001981|REF_RGD_ID:39939055
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:2957	pulmonary tuberculosis	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		RNA:increased expression:blood plasma (human)	PMID:27434276|REF_RGD_ID:150523784
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:299	adenocarcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18307536
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3068	glioblastoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16356833
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15337792|PMID:23099361|PMID:28864214
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:321	HTLV-1-associated myelopathy/tropical spastic paraparesis	severity	ISO	RGD:1345686	D	RGD:9068941	20201022	RGD		protein:increased expression:plasma (human)	PMID:26800845|REF_RGD_ID:39939014
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3275	thymoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:esophagus (human)	PMID:31423201|REF_RGD_ID:150520019
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17266442|PMID:17894541
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		human recombinant protein in a mouse model	PMID:28011398|REF_RGD_ID:150520199
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:399	tuberculosis		ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		protein:increased expression:blood plasma, erythrocyte (human)	PMID:26300588|REF_RGD_ID:11250849
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:promoter:-251A>T (human)	PMID:32393145|REF_RGD_ID:150520198
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:4029	gastritis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		associated with Helicobacter Infections;DNA:SNP:promoter:g.-251T>A (human)	PMID:20380014|REF_RGD_ID:150523786
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:4033	bacterial gastritis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)	PMID:31522447|REF_RGD_ID:40925938
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:4677	keratitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345686	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:18550579
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1345686	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5082	liver cirrhosis		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15763341
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, serum (human)	PMID:21731723|REF_RGD_ID:26884357
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20200806	RGD		associated with pleural tuberculosis;	PMID:21303360|REF_RGD_ID:36947878
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:31217522|REF_RGD_ID:150521549
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5517	stomach carcinoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with Helicobacter Infections;DNA:SNP:promoter: -251T>A (rs4073) (human)	PMID:31522447|REF_RGD_ID:40925938
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:559	acute pyelonephritis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD		DNA:SNP:promoter:g.-251T>A (rs4073) (human)	PMID:22325052|REF_RGD_ID:7207860
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28984080
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:6000	congestive heart failure		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15302794
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:646	viral encephalitis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20201218	RGD		DNA:SNP:promoter: -251A>T (human)	PMID:25751776|REF_RGD_ID:39939049
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:30523154|REF_RGD_ID:26884364
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345686	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12432545|PMID:35776891
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:26078356|REF_RGD_ID:11526468
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:multiple	PMID:24381110|REF_RGD_ID:26884366
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860|PMID:19192274
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11359455
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1617608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11359455
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18193101|PMID:20616304
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8557	oropharynx cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8574	lichen disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18393961
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8577	ulcerative colitis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12133438|PMID:15955209
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8618	oral cavity cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10660968
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:8858	tonsil cancer		ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		mRNA:increased expression:head, neck (human)	PMID:31452775|REF_RGD_ID:150520018
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:893	Wilson disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25002079
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:29655167|REF_RGD_ID:39939058
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000197	Edema		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15492468|PMID:15723263
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		Chronic hepatitis B; protein:increased expression:liver, plasma (human)	PMID:27974825|REF_RGD_ID:26884362
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000238	Acute-On-Chronic Liver Failure		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis;protein:increased expression:plasma (human)	PMID:29476704|REF_RGD_ID:26884367
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9000972	Fever		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11852909
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9001109	Anorexia	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T	PMID:24076593|REF_RGD_ID:150523788
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9001414	Neurosyphilis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:27650493|REF_RGD_ID:39939071
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24894820
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:7881729
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16606632|PMID:17606477
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29959987
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002512	Postherpetic Neuralgia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11280320
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401270|PMID:21742513
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9003688	Toxoplasma Chorioretinitis	severity	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD		protein:increased expression:serum (human)	PMID:17488320|REF_RGD_ID:39939053
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12865660
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1345686	D	RGD:9068941	20211112	RGD			PMID:21554996|REF_RGD_ID:150521553
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004422	Chagas Cardiomyopathy	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20211022	RGD		DNA:SNP:promoter:g.-251A>T (rs4073) (human)	PMID:22537745|REF_RGD_ID:39939013
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004443	Intractable Pain		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11280320
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004484	Sepsis	exacerbates	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		protein:increased expression:blood plasma (human)	PMID:31818332|REF_RGD_ID:40924635
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9004610	Acute Lung Injury	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		associated with sepsis;protein:increased expression:blood serum (human)	PMID:28506137|REF_RGD_ID:40925937
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29421334
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9005372	Inflammation		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20578705|PMID:24795235
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9005473	Bacterial Eye Infections		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1345686	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006549	Enterovirus Infections	severity	ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		DNA:SNP:intron:g.+781C>T (human)	PMID:24609754|REF_RGD_ID:150520201
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with colorectal cancer; human colon adenocarcinoma cells in a mouse model	PMID:29679563|REF_RGD_ID:26884358
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006684	Inflammatory Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512068
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1345686	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9006939	Lyme Neuroborreliosis	treatment	ISO	RGD:1345686	D	RGD:9068941	20201029	RGD			PMID:24239846|REF_RGD_ID:39939054
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9007346	Cachexia		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:1617608	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22015448
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17380299
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9007874	Liver Failure	disease_progression	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		associated with transient myeloproliferative syndrome and  Down syndrome;protein:increased expression:serum (human)	PMID:30314728|REF_RGD_ID:26884360
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732956
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1617608	D	RGD:9068941	20200827	RGD		associated with gastritis;mRNA:increased expression:stomach (mouse, Helicobacter felis)	PMID:17242461|REF_RGD_ID:38549339
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:1617608	D	RGD:9068941	20200828	RGD		mRNA:altered expression:gastric antrum (mouse)	PMID:29085807|REF_RGD_ID:38549349
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1345686	D	RGD:9068941	20211105	RGD		associated with liver disease;mRNA, protein:increased expression:liver, blood serum (human)	PMID:23890815|REF_RGD_ID:150520196
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1345686	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:serum, peripheral blood mononuclear cell (human)	PMID:26265888|REF_RGD_ID:11075958
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20065508
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008559	Bacterial Lung Diseases	severity	ISO	RGD:1345686	D	RGD:9068941	20210129	RGD		protein:increased expression:nasal mucus (human)	PMID:24211414|REF_RGD_ID:40925940
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23661603
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037|PMID:17516992
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20102417
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461696
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis	susceptibility	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD		DNA:SNP:promoter:g.-251A>T (human)	PMID:25821028|REF_RGD_ID:150523789
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1345686	D	RGD:9068941	20211126	RGD			PMID:32984951|REF_RGD_ID:150523791
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
12086515	CXCL8	C-X-C motif chemokine ligand 8	gene	DOID:9452	steatotic liver disease		ISO	RGD:1345686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348005
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060009	MHC class I deficiency		ISO	RGD:1348865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BLS, TYPE I | ClinVar Annotator: match by term: Bare lymphocyte syndrome type 1 | ClinVar Annotator: match by term: MHC class I deficiency	PMID:11529920|PMID:12067308|PMID:16199547|PMID:17576681|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7517574|PMID:9536098
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060058	lymphoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0060704	lymphoproliferative syndrome	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:10560675|REF_RGD_ID:1601413
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:21796142|REF_RGD_ID:5147839
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1025	tuberculoid leprosy	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:9062973|REF_RGD_ID:5147851
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:10316	pneumoconiosis		ISO	RGD:1348865	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNP: :(rs241448)(human)	PMID:16595160|REF_RGD_ID:6482265
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1115	sarcoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:12206	dengue hemorrhagic fever	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:18071882|REF_RGD_ID:6482261
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1577	limited scleroderma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:16112028|REF_RGD_ID:1578361
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1580	diffuse scleroderma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:16112028|REF_RGD_ID:1578361
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:1909	melanoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.V379I, A565T(human)	PMID:7928442|REF_RGD_ID:6482280
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.V379I, A565T(human)	PMID:7797617|REF_RGD_ID:6482281
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:synonymous mutation: :	PMID:7759306|REF_RGD_ID:6482279
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2893	cervix carcinoma	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNP: :(rs4148876)(human)	PMID:17366619|REF_RGD_ID:6482264
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:9062973|REF_RGD_ID:5147851
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:3042	allergic contact dermatitis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9303338|REF_RGD_ID:6482276
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		protein:decreased expression:esophagus	PMID:19492245|REF_RGD_ID:6482249
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:18248301|REF_RGD_ID:6482260
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:4362	cervical cancer	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:12648582|REF_RGD_ID:6482272
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6039	uveal melanoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6196	reactive arthritis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:7748224|REF_RGD_ID:6482278
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:630	genetic disease		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19480848|REF_RGD_ID:6482250
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9645419|REF_RGD_ID:6482275
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.T665A, Q687Q(human)	PMID:17581627|REF_RGD_ID:6482263
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006078	MHC CLASS I DEFICIENCY 2		ISO	RGD:1348865	D	RGD:7240710	20240619	OMIM			
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006078	MHC CLASS I DEFICIENCY 2		ISO	RGD:1348865	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MHC CLASS I DEFICIENCY 2 | ClinVar Annotator: match by term: MHC class I deficiency 2 | ClinVar Annotator: match by term: TAP2-related condition	PMID:11529920|PMID:12067308|PMID:23662797|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36229627|PMID:7517574
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9007425	Diffuse Panbronchiolitis	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:exon:	PMID:10323341|REF_RGD_ID:5147847
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9009393	MHC CLASS I DEFICIENCY 1		ISO	RGD:1348865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MHC class I deficiency 1	PMID:24033266|PMID:25741868|PMID:26122175|PMID:28492532
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:9014588|REF_RGD_ID:6482277
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:12634240|REF_RGD_ID:6482273
12086523	TAP2	transporter 2, ATP binding cassette subfamily B member	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1348865	D	RGD:9068941	20200609	RGD			PMID:1300236|PMID:17192492|REF_RGD_ID:2312368|REF_RGD_ID:2312373
12086547	PRIM2	DNA primase subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353751	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353751	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086547	PRIM2	DNA primase subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086565	NUDT22	nudix hydrolase 22	gene	DOID:10534	stomach cancer		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086565	NUDT22	nudix hydrolase 22	gene	DOID:1909	melanoma		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086565	NUDT22	nudix hydrolase 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086565	NUDT22	nudix hydrolase 22	gene	DOID:4362	cervical cancer		ISO	RGD:1601846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:0080695	Burn-McKeown syndrome		ISO	RGD:1347193	D	RGD:7240710	20180130	OMIM			
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:0080695	Burn-McKeown syndrome		ISO	RGD:1347193	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BURN-MCKEOWN SYNDROME | ClinVar Annotator: match by term: Burn-McKeown syndrome | ClinVar Annotator: match by term: Burn-Mckeown syndrome | ClinVar Annotator: match by term: TXNL4A-related condition	PMID:25434003|PMID:25741868|PMID:32735620
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:1324	lung cancer		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:630	genetic disease		ISO	RGD:1347193	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12086575	TXNL4A	thioredoxin like 4A	gene	DOID:9001156	Oculootofacial Dysplasia		ISO	RGD:1347193	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OCULOOTOFACIAL DYSPLASIA	PMID:25434003|PMID:25741868|PMID:32735620
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:0060478	Zika fever		ISO	RGD:1557813	D	RGD:9068941	20200702	RGD		mRNA:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:1909	melanoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349759	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12086593	EDEM1	ER degradation enhancing alpha-mannosidase like protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:10591	pre-eclampsia		ISO	RGD:1607067	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:chorionic villus (human)	PMID:22840297|REF_RGD_ID:155631283
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:423	myopathy		ISO	RGD:1607067	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:28492532
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:1607067	D	RGD:9068941	20220930	RGD		mRNA,protein:decreased expression:kidney (human)	PMID:23449350|REF_RGD_ID:155260320
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:630	genetic disease		ISO	RGD:1607067	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:9006323	Myopathy with Lactic Acidosis, Hereditary		ISO	RGD:1607067	D	RGD:7240710	20180130	OMIM			
12086610	ISCU	iron-sulfur cluster assembly enzyme	gene	DOID:9006323	Myopathy with Lactic Acidosis, Hereditary		ISO	RGD:1607067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ISCU-related condition | ClinVar Annotator: match by term: MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY | ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary	PMID:18296749|PMID:18304497|PMID:19567699|PMID:19846308|PMID:20206689|PMID:24573684|PMID:25741868|PMID:28492532|PMID:30209894
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:10534	stomach cancer		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:1115	sarcoma		ISO	RGD:731692	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:1909	melanoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:5041	esophageal cancer		ISO	RGD:731692	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086625	PRPF18	pre-mRNA processing factor 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:1115	sarcoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:1324	lung cancer		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1605602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1605602	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086643	ANKRD44	ankyrin repeat domain 44	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:1059	intellectual disability		ISO	RGD:42723466	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:1909	melanoma		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:2394	ovarian cancer		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:6039	uveal melanoma		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086696	PCSK7	proprotein convertase subtilisin/kexin type 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:1909	melanoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:3275	thymoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:9005834	Ependymomas		ISO	RGD:1316673	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086749	BANP	BTG3 associated nuclear protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1316673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12086777	SEPTIN3	septin 3	gene	DOID:1115	sarcoma		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086777	SEPTIN3	septin 3	gene	DOID:1909	melanoma		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086777	SEPTIN3	septin 3	gene	DOID:3275	thymoma		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086777	SEPTIN3	septin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086777	SEPTIN3	septin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086777	SEPTIN3	septin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:1115	sarcoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:1324	lung cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:1909	melanoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:3070	high grade glioma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:318	progressive muscular atrophy		ISO	RGD:1319800	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Progressive spinal muscular atrophy	PMID:25741868
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:3275	thymoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1319800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086803	SEC24A	SEC24 homolog A, COPII coat complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:0060058	lymphoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:1324	lung cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:1909	melanoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:3275	thymoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1350670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9004283	Transplant Rejection	susceptibility	ISO	RGD:1350670	D	RGD:9068941	20200609	RGD		DNA:haplotype: :rs11538264(human)	PMID:25111513|REF_RGD_ID:14390152
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1350670	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15842729|REF_RGD_ID:2306963
12086830	PRRC2A	proline rich coiled-coil 2A	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:1350670	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:10987645|REF_RGD_ID:2306964
12086867	SLC22A7	solute carrier family 22 member 7	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732686	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs2270860|rs4149178 (human)	PMID:28347776|REF_RGD_ID:152995291
12086880	LY6H	lymphocyte antigen 6 family member H	gene	DOID:10534	stomach cancer		ISO	RGD:1323593	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086880	LY6H	lymphocyte antigen 6 family member H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323593	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086888	ZNF672	zinc finger protein 672	gene	DOID:0060058	lymphoma		ISO	RGD:1602674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12086888	ZNF672	zinc finger protein 672	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602674	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086914	MYO1F	myosin IF	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086914	MYO1F	myosin IF	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086914	MYO1F	myosin IF	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: bilateral sensorineural hearing impairment	
12086914	MYO1F	myosin IF	gene	DOID:10534	stomach cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086914	MYO1F	myosin IF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086914	MYO1F	myosin IF	gene	DOID:1115	sarcoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086914	MYO1F	myosin IF	gene	DOID:1909	melanoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086914	MYO1F	myosin IF	gene	DOID:4362	cervical cancer		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086914	MYO1F	myosin IF	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086914	MYO1F	myosin IF	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086914	MYO1F	myosin IF	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12086914	MYO1F	myosin IF	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086914	MYO1F	myosin IF	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:1317337	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0050857	Perrault syndrome		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Perrault syndrome	PMID:25355836|PMID:25741868|PMID:26206283|PMID:26243799|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31455392|PMID:31852434|PMID:32234020|PMID:32281099|PMID:32283748|PMID:34338890|PMID:34426522|PMID:35035228|PMID:35914129|PMID:36400570|PMID:36838782|PMID:37932750|PMID:39095891
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0060260	ptosis		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0070329	mitochondrial DNA depletion syndrome		ISO	RGD:1317338	D	RGD:9068941	20260604	MouseDO			
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0080126	mitochondrial DNA depletion syndrome 7		ISO	RGD:1317337	D	RGD:7240710	20180130	OMIM			
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0080126	mitochondrial DNA depletion syndrome 7		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile onset spinocerebellar ataxia | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | ClinVar Annotator: match by term: Mitochondrial hepatopathy | ClinVar Annotator: match by term: OHAHA SYNDROME | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, HYPOTONIA, ATAXIA, HYPOACUSIS, AND ATHETOSIS | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, INFANTILE, WITH SENSORY NEUROPATHY | ClinVar Annotator: match by term: Spinocerebellar ataxia, infantile-onset | ClinVar Annotator: match by term: mitochondrial hepatopathy	PMID:16135556|PMID:17722119|PMID:17921179|PMID:18775955|PMID:20659899|PMID:21681116|PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31055809|PMID:31455392|PMID:31852434|PMID:33486010|PMID:35641312|PMID:36099812|PMID:37349538|PMID:38703036
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1317337	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ataxia Neuropathy Spectrum Disorders | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:15668446|PMID:17614277|PMID:20479361|PMID:20659899|PMID:21689831|PMID:24018892|PMID:25355836|PMID:25741868|PMID:26206283|PMID:26467025|PMID:27551684|PMID:28492532|PMID:29458409
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1317337	D	RGD:7240710	20180130	OMIM			
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0111520	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3		ISO	RGD:1317337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	PMID:003|PMID:01|PMID:10|PMID:1016|PMID:11431692|PMID:12163192|PMID:12707443|PMID:15668446|PMID:16639411|PMID:17272269|PMID:17614277|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:19353676|PMID:19428252|PMID:19513767|PMID:2011|PMID:2012|PMID:20301746|PMID:20479361|PMID:20659899|PMID:20880070|PMID:21681116|PMID:21689831|PMID:24014582|PMID:24018892|PMID:24076137|PMID:25133958|PMID:25741868|PMID:25989649|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:28812649|PMID:29095814|PMID:29458409|PMID:30770810|PMID:30799093|PMID:31271879|PMID:31455392|PMID:31852434|PMID:32161153|PMID:32283748|PMID:33396418|PMID:34409151|PMID:35011763|PMID:35286480|PMID:35289132|PMID:35641312|PMID:36099812|PMID:37349538|PMID:38703036
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:1317337	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	PMID:11431692|PMID:18575922|PMID:18971204|PMID:20659899|PMID:25741868|PMID:28492532
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:12558	chronic progressive external ophthalmoplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:12558	chronic progressive external ophthalmoplegia	susceptibility	ISO	RGD:1317337	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:11431692|REF_RGD_ID:1600544
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:13938	amenorrhea		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868|PMID:28492532|PMID:33486010
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:14330	Parkinson's disease		ISO	RGD:1317338	D	RGD:9068941	20240425	MouseDO			
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental depression	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532|PMID:33486010
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:539	ophthalmoplegia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:540	strabismus		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:5723	optic atrophy		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:630	genetic disease		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1317337	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder	PMID:11431692|PMID:12707443|PMID:12872260|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18575922|PMID:18971204|PMID:18973250|PMID:19084593|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20818383|PMID:20880070|PMID:24076137|PMID:24086434|PMID:25741868|PMID:26467025|PMID:26469001|PMID:27650058|PMID:28492532|PMID:28812649|PMID:30496414|PMID:31055809|PMID:32161153|PMID:34732400|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:26469001|PMID:27650058|PMID:28492532|PMID:28812649|PMID:31055809|PMID:32161153|PMID:34732400|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9000124	Perrault Syndrome 5		ISO	RGD:1317337	D	RGD:7240710	20180130	OMIM			
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9000124	Perrault Syndrome 5		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PERRAULT SYNDROME 5 | ClinVar Annotator: match by term: Perrault syndrome 5	PMID:18593709|PMID:25355836|PMID:25741868|PMID:26243799|PMID:27551684|PMID:27650058|PMID:28178980|PMID:28492532|PMID:29302074|PMID:30311386|PMID:31055809|PMID:31455392|PMID:31823625|PMID:32234020|PMID:32281099|PMID:32283748|PMID:33486010|PMID:34338890|PMID:34426522|PMID:35035228|PMID:35914129|PMID:36400570|PMID:36838782|PMID:37932750|PMID:39095891
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	PMID:25741868|PMID:27551684|PMID:28492532|PMID:30818899|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinocerebellar Ataxia, Recessive | ClinVar Annotator: match by term: spinocerebellar ataxia	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:27551684|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1317337	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868|PMID:28492532|PMID:33486010
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9004866	Ataxia		ISO	RGD:1317337	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:33486010|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307884	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	PMID:22743328|REF_RGD_ID:8694093
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1317338	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:retina,mitochondrion:	PMID:22229649|REF_RGD_ID:8694187
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9005815	Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive		ISO	RGD:1317337	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC	PMID:12707443|PMID:18575922|PMID:18973250|PMID:19084593|PMID:20659899|PMID:24086434|PMID:25741868|PMID:28492532|PMID:28812649|PMID:30496414
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9006178	Dysphonia		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphonia	PMID:11431692|PMID:16639411|PMID:17272269|PMID:17620490|PMID:18279890|PMID:18971204|PMID:19513767|PMID:20479361|PMID:20659899|PMID:20880070|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28812649|PMID:32161153|PMID:35289132
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:27551684|PMID:28492532|PMID:36099812
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:25741868|PMID:26206283|PMID:26467025|PMID:26970254|PMID:28178980|PMID:28492532|PMID:29458409|PMID:30799093|PMID:31852434|PMID:35641312|PMID:37349538
12086945	TWNK	twinkle mtDNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:1324	lung cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:1909	melanoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:1316362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086958	EIF3A	eukaryotic translation initiation factor 3 subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:1315485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:1909	melanoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1315485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12086995	ATP8B4	ATPase phospholipid transporting 8B4 (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:1349240	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dominant progressive sensorineural hearing loss	PMID:25741868
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347096
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:7240710	20230505	OMIM			
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:0070612	autosomal dominant nonsyndromic deafness 89		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATOH1-related condition	
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12087036	ATOH1	atonal bHLH transcription factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1345935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:30455415
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:0080977	aortic valve disease 3		ISO	RGD:1345935	D	RGD:7240710	20190731	OMIM			
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:0080977	aortic valve disease 3		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 3 | ClinVar Annotator: match by term: Aortic valve disease 3 | ClinVar Annotator: match by term: ROBO4-related condition | ClinVar Annotator: match by term: aortic valve disease 3	PMID:25741868|PMID:28492532|PMID:30455415|PMID:32748548
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:1345935	D	RGD:9068941	20230330	RGD		mRNA,protein:increased expression:placenta	PMID:22262697|REF_RGD_ID:243048428
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:1115	sarcoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:12849	autistic disorder		ISO	RGD:1345935	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18270976
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:1324	lung cancer		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:32748548
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1345935	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: thoracic aortic aneurysms	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:6494870	D	RGD:9068941	20230330	RGD		protein:increased expression:hippocampus	PMID:26764532|REF_RGD_ID:11573340
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1345935	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1345935	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087041	ROBO4	roundabout guidance receptor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087068	PLD6	phospholipase D family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087068	PLD6	phospholipase D family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087068	PLD6	phospholipase D family member 6	gene	DOID:12336	male infertility		ISO	RGD:1602058	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
12087068	PLD6	phospholipase D family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12087074	KLHL17	kelch like family member 17	gene	DOID:0060313	tracheomalacia		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:32641753
12087074	KLHL17	kelch like family member 17	gene	DOID:0080171	esophageal atresia/tracheoesophageal fistula		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia/tracheoesophageal fistula	PMID:32641753
12087074	KLHL17	kelch like family member 17	gene	DOID:10485	esophageal atresia		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	PMID:32641753
12087074	KLHL17	kelch like family member 17	gene	DOID:10534	stomach cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087074	KLHL17	kelch like family member 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087074	KLHL17	kelch like family member 17	gene	DOID:1115	sarcoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087074	KLHL17	kelch like family member 17	gene	DOID:3275	thymoma		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087074	KLHL17	kelch like family member 17	gene	DOID:4667	kyphosis		ISO	RGD:1348319	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:32641753
12087074	KLHL17	kelch like family member 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1348319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087074	KLHL17	kelch like family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087074	KLHL17	kelch like family member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348266	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:1324	lung cancer		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:3275	thymoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087100	TXNDC11	thioredoxin domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:0060058	lymphoma		ISO	RGD:1312502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1312502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:1909	melanoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087127	RC3H2	ring finger and CCCH-type domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087163	SLC25A53	solute carrier family 25 member 53	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087163	SLC25A53	solute carrier family 25 member 53	gene	DOID:1909	melanoma		ISO	RGD:1603463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087163	SLC25A53	solute carrier family 25 member 53	gene	DOID:3070	high grade glioma		ISO	RGD:1603463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12087163	SLC25A53	solute carrier family 25 member 53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087180	TIMM9	translocase of inner mitochondrial membrane 9	gene	DOID:3275	thymoma		ISO	RGD:1352655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087180	TIMM9	translocase of inner mitochondrial membrane 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1352655	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087180	TIMM9	translocase of inner mitochondrial membrane 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1603708	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23252400|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066|PMID:9536098
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080414	developmental and epileptic encephalopathy 15		ISO	RGD:1603708	D	RGD:7240710	20180130	OMIM			
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080414	developmental and epileptic encephalopathy 15		ISO	RGD:1603708	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 15 | ClinVar Annotator: match by term: ST3GAL3-related condition	PMID:16199547|PMID:18414213|PMID:25741868|PMID:28492532|PMID:31584066
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1603708	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0081180	autosomal recessive intellectual developmental disorder 12		ISO	RGD:1603708	D	RGD:7240710	20180130	OMIM			
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0081180	autosomal recessive intellectual developmental disorder 12		ISO	RGD:1603708	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 12	PMID:25741868|PMID:28492532|PMID:31584066
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31584066|PMID:9536098
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:3070	high grade glioma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1603708	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31584066
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087204	ST3GAL3	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087226	NME4	NME/NM23 nucleoside diphosphate kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087226	NME4	NME/NM23 nucleoside diphosphate kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1318408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087226	NME4	NME/NM23 nucleoside diphosphate kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087226	NME4	NME/NM23 nucleoside diphosphate kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087226	NME4	NME/NM23 nucleoside diphosphate kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1318408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:1324	lung cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:1909	melanoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1322310	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain metastases:10-fold lower expression in metastases vs primary tumors	PMID:15592684|REF_RGD_ID:2289400
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1322310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27501413
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27501413
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087235	BRMS1	BRMS1 transcriptional repressor and anoikis regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1322310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12087256	LRRC71	leucine rich repeat containing 71	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087256	LRRC71	leucine rich repeat containing 71	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087256	LRRC71	leucine rich repeat containing 71	gene	DOID:1115	sarcoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087256	LRRC71	leucine rich repeat containing 71	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087256	LRRC71	leucine rich repeat containing 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087292	TMEM273	transmembrane protein 273	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087292	TMEM273	transmembrane protein 273	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087292	TMEM273	transmembrane protein 273	gene	DOID:10534	stomach cancer		ISO	RGD:1344407	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087292	TMEM273	transmembrane protein 273	gene	DOID:4362	cervical cancer		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087292	TMEM273	transmembrane protein 273	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087292	TMEM273	transmembrane protein 273	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087292	TMEM273	transmembrane protein 273	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087292	TMEM273	transmembrane protein 273	gene	DOID:9256	colorectal cancer		ISO	RGD:1344407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12087308	TSPAN16	tetraspanin 16	gene	DOID:1115	sarcoma		ISO	RGD:1349307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:10534	stomach cancer		ISO	RGD:733878	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:1324	lung cancer		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087371	ACOT7	acyl-CoA thioesterase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:1324	lung cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:3275	thymoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:4362	cervical cancer		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1312331	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087387	CADM4	cell adhesion molecule 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:7240710	20180130	OMIM			
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0070654	desmosterolosis		ISO	RGD:1315197	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DESMOSTEROLOSIS | ClinVar Annotator: match by term: DHCR24-related condition | ClinVar Annotator: match by term: Desmosterolosis | ClinVar Annotator: match by term: desmosterolosis	PMID:11519011|PMID:21671375|PMID:21902244|PMID:25741868|PMID:28492532|PMID:33098801|PMID:33619735|PMID:35872528
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:0080600	COVID-19		ISO	RGD:1315197	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:10534	stomach cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042211
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:11100	Q fever		ISO	RGD:1315197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:1115	sarcoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:1324	lung cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:1315197	D	RGD:9068941	20200609	RGD		desmosterolosis, OMIM:602398, Y471S, N294T, K306N	PMID:11519011|REF_RGD_ID:1600897
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1315197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:5419	schizophrenia		ISO	RGD:1315197	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:630	genetic disease		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:9005616	Micrognathism		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087399	DHCR24	24-dehydrocholesterol reductase	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315197	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868|PMID:33027564|PMID:37236975
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:10534	stomach cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:6000	congestive heart failure		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030|PMID:28108177
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
12087412	CIDEA	cell death inducing DFFA like effector a	gene	DOID:9970	obesity		ISO	RGD:1312942	D	RGD:9068941	20200609	RGD		protein:amino acid substitution:V115F	PMID:16186410|REF_RGD_ID:1625390
12087421	PROCA1	protein interacting with cyclin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087421	PROCA1	protein interacting with cyclin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087421	PROCA1	protein interacting with cyclin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087421	PROCA1	protein interacting with cyclin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087421	PROCA1	protein interacting with cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1349288	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Multiminicore myopathy	PMID:25741868
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1349288	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25741868|PMID:38429495
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1349288	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:12849	autistic disorder		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25679214|PMID:25741868
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349288	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:9009260	Non-syndromic X-linked intellectual developmental disorder 114		ISO	RGD:1349288	D	RGD:7240710	20241113	OMIM			
12087439	SRPK3	SRSF protein kinase 3	gene	DOID:9009260	Non-syndromic X-linked intellectual developmental disorder 114		ISO	RGD:1349288	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 114 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked 114	PMID:25741868|PMID:38429495
12087461	TPD52L1	TPD52 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087461	TPD52L1	TPD52 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320807	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087461	TPD52L1	TPD52 like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087461	TPD52L1	TPD52 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087461	TPD52L1	TPD52 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087461	TPD52L1	TPD52 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320807	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12087461	TPD52L1	TPD52 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1607035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2T | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:25681410|PMID:25741868|PMID:25770200|PMID:26133662|PMID:26310427|PMID:27147698|PMID:27766311|PMID:28433477|PMID:28492532|PMID:28554332|PMID:28914264|PMID:29437916|PMID:30126629|PMID:30257713|PMID:31378432|PMID:32115343|PMID:33060286|PMID:33756069|PMID:34008892|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0111233	congenital muscular dystrophy-dystroglycanopathy type A14		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14	PMID:16199547|PMID:17576681|PMID:23768512|PMID:23894383|PMID:25681410|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28433477|PMID:28492532|PMID:28554332|PMID:28914264|PMID:29437916|PMID:30126629|PMID:30257713|PMID:31378432|PMID:33060286|PMID:33756069|PMID:34333724|PMID:35006422|PMID:37853563|PMID:9536098
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy	PMID:23768512|PMID:25741868|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:7240710	20180130	OMIM			
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:0112377	muscular dystrophy-dystroglycanopathy type B14		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14	PMID:17576681|PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286|PMID:34333724|PMID:35006422|PMID:9536098
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:10376	amblyopia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:10534	stomach cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:1059	intellectual disability		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:12849	autistic disorder		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:1826	epilepsy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28433477|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:1909	melanoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:4362	cervical cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:630	genetic disease		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:26310427|PMID:27766311|PMID:28492532|PMID:29437916|PMID:30257713|PMID:33060286|PMID:34333724|PMID:9536098
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9007661	Dwarfism		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9840	esotropia		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23768512|PMID:25681410|PMID:25741868|PMID:28492532|PMID:28554332|PMID:30257713
12087481	GMPPB	GDP-mannose pyrophosphorylase B	gene	DOID:9884	muscular dystrophy		ISO	RGD:1607035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:23768512|PMID:23894383|PMID:25741868|PMID:26133662|PMID:28492532|PMID:29437916|PMID:34333724
12087506	MAGEB10	melanoma antigen family B, 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:0050679	blue cone monochromacy		ISO	RGD:1346667	D	RGD:7240710	20180130	OMIM			
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:0050679	blue cone monochromacy		ISO	RGD:1346667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLUE CONE MONOCHROMACY | ClinVar Annotator: match by term: Blue cone monochromacy	PMID:25741868
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:11830	myopia		ISO	RGD:1346667	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:13910	red color blindness		ISO	RGD:1346667	D	RGD:7240710	20180130	OMIM			
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:13910	red color blindness		ISO	RGD:1346667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Protan defect | ClinVar Annotator: match by term: Red color blindness	PMID:25741868
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:9000343	Vision Disorders		ISO	RGD:1346667	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12087512	OPN1LW	opsin 1, long wave sensitive	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050606	acrokeratosis verruciformis		ISO	RGD:731733	D	RGD:7240710	20260812	OMIM			
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050606	acrokeratosis verruciformis		ISO	RGD:731733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACROKERATOSIS VERRUCIFORMIS | ClinVar Annotator: match by term: ATP2A2-related condition | ClinVar Annotator: match by term: Acrokeratosis verruciformis of Hopf	PMID:11244492|PMID:12542527|PMID:22814319|PMID:25622760|PMID:25741868|PMID:26467025|PMID:28035777|PMID:28492532|PMID:28498512
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21217071
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:731733	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.A724A (c.2171G>A)(human)	PMID:20687374|REF_RGD_ID:13507310
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1115	sarcoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:114	heart disease		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:23458196|REF_RGD_ID:7327178
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:114	heart disease		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19328205
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:increased oxidation:cardiac muscle cell	PMID:23997093|REF_RGD_ID:13782087
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1459	hypothyroidism		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:21217071|REF_RGD_ID:6904140
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:1824	status epilepticus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15288437
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2734	keratosis follicularis		ISO	RGD:731733	D	RGD:7240710	20260812	OMIM			
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2734	keratosis follicularis		ISO	RGD:731733	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE | ClinVar Annotator: match by term: Darier disease | ClinVar Annotator: match by term: Darier's disease | ClinVar Annotator: match by term: Keratosis follicularis	PMID:10441323|PMID:10441324|PMID:12975374|PMID:15186327|PMID:16467572|PMID:16766529|PMID:17635506|PMID:19528419|PMID:21519848|PMID:23356892|PMID:25741868|PMID:28492532|PMID:30345710|PMID:39434542
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:2856	euthyroid sick syndrome	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with congestive heart failure	PMID:27737323|REF_RGD_ID:13782084
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:3070	high grade glioma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:4362	cervical cancer		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6000	congestive heart failure		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:21691940|REF_RGD_ID:6903963
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776660
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:630	genetic disease		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:27144451|REF_RGD_ID:13782086
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:731733	D	RGD:9068941	20200609	RGD			PMID:23804254|REF_RGD_ID:13782089
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:decreased expression:tail, skeletal muscle	PMID:21930674|REF_RGD_ID:13782071
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9001636	Darier Disease, Segmental		ISO	RGD:731733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE, SEGMENTAL	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9001956	Darier Disease, Acral Hemorrhagic Type		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DARIER DISEASE, ACRAL HEMORRHAGIC TYPE | ClinVar Annotator: match by term: Darier disease, acral hemorrhagic type	PMID:10441324|PMID:16467572|PMID:16766529|PMID:17635506|PMID:23356892|PMID:25741868|PMID:28492532
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9002514	Neointima	treatment	ISO	RGD:731733	D	RGD:9068941	20200609	RGD			PMID:23535897|REF_RGD_ID:13782090
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11679415
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:29792884|REF_RGD_ID:13782078
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005141	Ventricular Tachycardia	susceptibility	ISO	RGD:731733	D	RGD:9068941	20200609	RGD		associated with heart failure;DNA:SNP: :rs186056(human)	PMID:24048583|REF_RGD_ID:13507307
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:20122173|PMID:28483572|REF_RGD_ID:12910731|REF_RGD_ID:13782130
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		protein:increased carbonylation:heart	PMID:21300842|REF_RGD_ID:6904139
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9005725	Iron Overload		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus	PMID:27222135|REF_RGD_ID:13782085
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21441944|REF_RGD_ID:6771209
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16685413
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007346	Cachexia		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma	PMID:23200745|REF_RGD_ID:13782066
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:18416460|REF_RGD_ID:13782074
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10734148
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:28637456|REF_RGD_ID:13782080
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9009352	Rhabdomyolysis 2		ISO	RGD:731733	D	RGD:7240710	20260812	OMIM			
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9009352	Rhabdomyolysis 2		ISO	RGD:731733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RHABDOMYOLYSIS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Rhabdomyolysis, susceptibility to, 2	PMID:25741868
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD			PMID:22009485|PMID:27222135|REF_RGD_ID:13782085|REF_RGD_ID:6771327
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2174	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:21216827|REF_RGD_ID:6892953
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12087520	ATP2A2	ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2	gene	DOID:9767	myocardial stunning		ISO	RGD:731733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16317512
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:1909	melanoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:3275	thymoma		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087549	RPF2	ribosome production factor 2 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087570	EPPK1	epiplakin 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1343625	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12087570	EPPK1	epiplakin 1	gene	DOID:9001341	Chloracne		ISO	RGD:1343625	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1321287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050881	inclusion body myopathy with Paget disease of bone and frontotemporal dementia		ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.D290V (human)	PMID:23455423|REF_RGD_ID:10395280
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0060058	lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:7240710	20190315	OMIM			
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:11891683|PMID:16199547|PMID:17576681|PMID:23455423|PMID:25741868|PMID:28389692|PMID:28492532|PMID:29358076|PMID:9536098
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:0111384	inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2		ISO	RGD:1321287	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HNRNPA2B1-related condition | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27990297|PMID:28389692|PMID:28492532|PMID:29358076|PMID:35484142|PMID:9536098
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10534	stomach cancer		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		protein:decreased expression:entorhinal cortex (human)	PMID:22628224|REF_RGD_ID:9999191
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1115	sarcoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:1909	melanoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:altered expression:cerebral cortex, hippocampus (rat)	PMID:20421594|REF_RGD_ID:10041006
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3275	thymoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1321287	D	RGD:9068941	20200609	RGD		antibody 703D4 recognizes Hnrnpa2b1 protein (RGD:9685415);protein:increased expression:sputum (human)	PMID:2846790|REF_RGD_ID:9685413
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:4905	pancreatic carcinoma	severity	ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:21472101|REF_RGD_ID:9587766
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:630	genetic disease		ISO	RGD:1321287	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:1310403	D	RGD:9068941	20200609	RGD			PMID:18025202|REF_RGD_ID:9685481
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:7240710	20230809	OMIM			
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9000844	Oculopharyngeal Muscular Dystrophy 2		ISO	RGD:1321287	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: OCULOPHARYNGEAL MUSCULAR DYSTROPHY 2 | ClinVar Annotator: match by term: Oculopharyngeal muscular dystrophy 2	PMID:25741868|PMID:28492532|PMID:35484142
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1310403	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder (rat)	PMID:18337374|REF_RGD_ID:9685410
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087575	HNRNPA2B1	heterogeneous nuclear ribonucleoprotein A2/B1	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321287	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23455423|PMID:25741868
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:3275	thymoma		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:3652	Leigh disease		ISO	RGD:1348190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:17576681|PMID:22152682|PMID:25741868|PMID:28492532|PMID:9536098
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:543	dystonia		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:630	genetic disease		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22152682|PMID:25741868|PMID:28492532|PMID:28747443|PMID:28856750|PMID:29269382|PMID:30483896
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:9003549	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)		ISO	RGD:1348190	D	RGD:7240710	20180130	OMIM			
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:9003549	Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)		ISO	RGD:1348190	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE) | ClinVar Annotator: match by term: TPK1-related condition | ClinVar Annotator: match by term: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	PMID:16199547|PMID:17576681|PMID:22152682|PMID:25458521|PMID:25741868|PMID:26975778|PMID:28431625|PMID:28492532|PMID:30483896|PMID:31288420|PMID:31404531|PMID:9536098
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12087607	TPK1	thiamin pyrophosphokinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:4440	seminoma		ISO	RGD:737532	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors	PMID:11526504|REF_RGD_ID:2290002
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:737532	D	RGD:9068941	20200609	RGD		non-seminoma testicular germ cell tumors;  mRNA:decreased expression:tumor:strong expression in normal tesis and preinvasive carcinoma in situ, no expression in malignant tumors	PMID:11526504|REF_RGD_ID:2290002
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9008877	Familial Partial Lipodystrophy Type 9		ISO	RGD:737532	D	RGD:7240710	20240131	OMIM			
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9008877	Familial Partial Lipodystrophy Type 9		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 9 | ClinVar Annotator: match by term: Lipodystrophy, familial partial, type 9	PMID:25741868
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734412	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:tumor:mRNA decreased and protein undetectable in HRAS transgene-induced tumors	PMID:9049257|REF_RGD_ID:2290001
12087628	PLAAT3	phospholipase A and acyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24656866|PMID:25471517|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:1346181	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	PMID:24656866|PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346181	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:10892	hypospadias		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADHD | ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:24656866|PMID:25741868|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1359448	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:dorsal root ganglion:	PMID:25467976|REF_RGD_ID:12910554
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:24656866|PMID:25471517|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:540	strabismus		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:1346181	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32042906|PMID:33256324|PMID:9536098
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346181	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:7240710	20180130	OMIM			
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1346181	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY | ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy | ClinVar Annotator: match by term: QARS1-related condition	PMID:17576681|PMID:24656866|PMID:25471517|PMID:25741868|PMID:26467025|PMID:26869582|PMID:27572814|PMID:28492532|PMID:28620870|PMID:30755392|PMID:31618474|PMID:32042906|PMID:33057194|PMID:33256324|PMID:35304488|PMID:35982159|PMID:36672771|PMID:9536098
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:28492532|PMID:30755392|PMID:31618474
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:24656866|PMID:25471517|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24656866|PMID:25471517|PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:28492532
12087643	QARS1	glutaminyl-tRNA synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24656866|PMID:25471517|PMID:25741868|PMID:28492532
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050970	spinocerebellar ataxia 19/22		ISO	RGD:1343628	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22	PMID:25741868
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050975	spinocerebellar ataxia 26		ISO	RGD:1343628	D	RGD:7240710	20180130	OMIM			
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0050975	spinocerebellar ataxia 26		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 26	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33355653
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0070476	diphthamide deficiency syndrome		ISO	RGD:1343628	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: EEF2-related condition	PMID:25741868|PMID:26467025|PMID:28492532
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1343628	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:antibody secreting B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:prostate (human)	PMID:24589652|REF_RGD_ID:153297816
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1343628	D	RGD:9068941	20220804	RGD		human cells in mouse model	PMID:19360331|REF_RGD_ID:153298969
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:1059	intellectual disability		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1343628	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:brain:	PMID:1331687|REF_RGD_ID:10401652
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:11830	myopia		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:1686	glaucoma		ISO	RGD:1343628	D	RGD:9068941	20200609	RGD		associated with Exfoliation Syndrome;	PMID:20107165|REF_RGD_ID:10401222
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1343628	D	RGD:9068941	20220804	RGD		protein:increased expression:rectum (human)	PMID:19360331|REF_RGD_ID:153298969
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343628	D	RGD:9068941	20220804	RGD		protein:increased expression:colon(human)	PMID:19360331|REF_RGD_ID:153298969
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:299	adenocarcinoma		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21554491
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:3073	brain glioblastoma multiforme		ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:brain (human)	PMID:24589652|REF_RGD_ID:153297816
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:3087	gingivitis		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:blood serum (human)	PMID:24377563|REF_RGD_ID:153298905
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:lung (human)	PMID:21554491|REF_RGD_ID:153298904
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343628	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:lung (human)	PMID:24589652|REF_RGD_ID:153297816
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1343628	D	RGD:9068941	20220804	RGD		protein:increased expression, increased phosphorylation:liver (human)	PMID:28060762|REF_RGD_ID:153298915
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9002801	Recurrence		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21554491
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61979	D	RGD:9068941	20200609	RGD		protein:hypophosphorylation:cortex, hippocampus:	PMID:15211596|REF_RGD_ID:10401223
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21554491
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21554491
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:61979	D	RGD:9068941	20200609	RGD		protein:decreased expression:cardiac muscle:	PMID:7513958|REF_RGD_ID:10401649
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:61979	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:prefrontal cortex, dentate gyrus;	PMID:22917528|REF_RGD_ID:10401259
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343628	D	RGD:9068941	20220728	RGD		protein:increased expression:colon (human)	PMID:24589652|REF_RGD_ID:153297816
12087674	EEF2	eukaryotic translation elongation factor 2	gene	DOID:9834	hyperopia		ISO	RGD:1343628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:3275	thymoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087693	ZDHHC6	zinc finger DHHC-type palmitoyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087720	MTARC2	mitochondrial amidoxime reducing component 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087720	MTARC2	mitochondrial amidoxime reducing component 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606267	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12087720	MTARC2	mitochondrial amidoxime reducing component 2	gene	DOID:670	amphetamine abuse		ISO	RGD:1606267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12087720	MTARC2	mitochondrial amidoxime reducing component 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087730	FST	follistatin	gene	DOID:0050567	orofacial cleft		ISO	RGD:734008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofacial clefting	
12087730	FST	follistatin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087730	FST	follistatin	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:10603	D	RGD:9068941	20220825	MouseDO		OMIM:275210	
12087730	FST	follistatin	gene	DOID:11162	respiratory failure		ISO	RGD:10603	D	RGD:9068941	20200609	RGD			PMID:7885475|REF_RGD_ID:737711
12087730	FST	follistatin	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:734008	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:10411917|REF_RGD_ID:1601259
12087730	FST	follistatin	gene	DOID:1324	lung cancer		ISO	RGD:734008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087730	FST	follistatin	gene	DOID:3070	high grade glioma		ISO	RGD:734008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12087730	FST	follistatin	gene	DOID:4362	cervical cancer		ISO	RGD:734008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087730	FST	follistatin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087730	FST	follistatin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203361|PMID:19363144
12087730	FST	follistatin	gene	DOID:767	muscular atrophy		ISO	RGD:734008	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: therapeutic	PMID:33034787
12087730	FST	follistatin	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12087730	FST	follistatin	gene	DOID:9001981	Weight Loss		ISO	RGD:734008	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: therapeutic	PMID:33034787
12087730	FST	follistatin	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12087730	FST	follistatin	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2633	D	RGD:9068941	20230427	RGD		mRNA:decreased expression:brain (rat)	PMID:10415398|REF_RGD_ID:329322882
12087730	FST	follistatin	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12560755
12087730	FST	follistatin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203361
12087730	FST	follistatin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:11870	Pick's disease		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:12392790|REF_RGD_ID:7495833
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:1205	allergic disease		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21544193
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:3275	thymoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:11593045|REF_RGD_ID:1302548
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:4001	ovarian carcinoma	disease_progression	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	PMID:16489030|REF_RGD_ID:2293338
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:20980434|REF_RGD_ID:7495806
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:12392790|REF_RGD_ID:7495833
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17577251|REF_RGD_ID:2293334
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9000197	Edema		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21544193
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1313499	D	RGD:9068941	20200609	RGD			PMID:17016428|REF_RGD_ID:7495832
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9000774	Brain Death		ISO	RGD:620666	D	RGD:9068941	20200609	RGD			PMID:23157661|REF_RGD_ID:7495829
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9002304	Prostatic Neoplasms	no_association	ISO	RGD:732805	D	RGD:9068941	20200609	RGD		expression has no effect on metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	PMID:16322247|REF_RGD_ID:2293337
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732805	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15037631
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD			PMID:12750397|PMID:15722372|REF_RGD_ID:13782145|REF_RGD_ID:1582275
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620666	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney, glomerulus	PMID:11473637|REF_RGD_ID:7495813
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1552419	D	RGD:9068941	20200609	RGD			PMID:14749328|REF_RGD_ID:7495840
12087741	MAP2K6	mitogen-activated protein kinase kinase 6	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732805	D	RGD:9068941	20200609	RGD			PMID:15492008|REF_RGD_ID:1582277
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:731681	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:0090111	PCWH syndrome		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:0090111	PCWH syndrome	severity	ISO	RGD:731681	D	RGD:9068941	20200609	RGD			PMID:25959061|REF_RGD_ID:12802339
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:0110955	Waardenburg syndrome type 4C		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:0110956	Waardenburg syndrome type 2E		ISO	RGD:731681	D	RGD:7240710	20180130	OMIM			
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:735897	D	RGD:9068941	20250724	RGD		DNA:frameshift:cds:	PMID:9560246|REF_RGD_ID:12802335
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:3614	Kallmann syndrome		ISO	RGD:731681	D	RGD:9068941	20250724	RGD		DNA:mutations:cds:	PMID:23643381|REF_RGD_ID:12832748
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:3614	Kallmann syndrome		ISO	RGD:735897	D	RGD:9068941	20250724	MouseDO			
12087765	SOX10	SRY-box transcription factor 10	gene	DOID:9005027	Waardenburg Syndrome Type 4		ISO	RGD:731681	D	RGD:9068941	20200609	RGD		DNA:missense mutations,insertion,deletion:cds:	PMID:9462749|REF_RGD_ID:12832744
12087773	KIF6	kinesin family member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087773	KIF6	kinesin family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087773	KIF6	kinesin family member 6	gene	DOID:0051061	stroke		ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:19752551|REF_RGD_ID:2317144
12087773	KIF6	kinesin family member 6	gene	DOID:0080685	aortic dissection		ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:28097184|REF_RGD_ID:243048448
12087773	KIF6	kinesin family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087773	KIF6	kinesin family member 6	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP, haplotype: :rs20455 (p.W719R), rs6930913  (human)	PMID:34961832|REF_RGD_ID:243048456
12087773	KIF6	kinesin family member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087773	KIF6	kinesin family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087773	KIF6	kinesin family member 6	gene	DOID:1287	cardiovascular system disease	no_association	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human)	PMID:21871624|REF_RGD_ID:243048453
12087773	KIF6	kinesin family member 6	gene	DOID:1909	melanoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087773	KIF6	kinesin family member 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :rs20455 (human)	PMID:18222354|REF_RGD_ID:243048446
12087773	KIF6	kinesin family member 6	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:19371834|PMID:21458191|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048451
12087773	KIF6	kinesin family member 6	gene	DOID:3393	coronary artery disease	sexual_dimorphism	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		associated with type 2 diabetes mellitus;DNA:SNP: :p.W719R (rs20455) (human)	PMID:25629058|REF_RGD_ID:243048454
12087773	KIF6	kinesin family member 6	gene	DOID:3393	coronary artery disease	treatment	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:26443250|REF_RGD_ID:11527801
12087773	KIF6	kinesin family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12087773	KIF6	kinesin family member 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087773	KIF6	kinesin family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087773	KIF6	kinesin family member 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :rs20455 (human)	PMID:18222354|REF_RGD_ID:243048446
12087773	KIF6	kinesin family member 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1346574	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21943003
12087773	KIF6	kinesin family member 6	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:19371834|PMID:20927332|PMID:26997531|REF_RGD_ID:243048447|REF_RGD_ID:243048449|REF_RGD_ID:243048450
12087773	KIF6	kinesin family member 6	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:20403483|REF_RGD_ID:11097528
12087773	KIF6	kinesin family member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087773	KIF6	kinesin family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087773	KIF6	kinesin family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087773	KIF6	kinesin family member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087773	KIF6	kinesin family member 6	gene	DOID:9352	type 2 diabetes mellitus	sexual_dimorphism	ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:25629058|REF_RGD_ID:243048454
12087773	KIF6	kinesin family member 6	gene	DOID:9408	acute myocardial infarction		ISO	RGD:1346574	D	RGD:9068941	20230401	RGD		DNA:SNP: :p.W719R (rs20455) (human)	PMID:20044086|REF_RGD_ID:243048455
12087796	MYF5	myogenic factor 5	gene	DOID:9003625	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES		ISO	RGD:1318025	D	RGD:7240710	20210414	OMIM			
12087796	MYF5	myogenic factor 5	gene	DOID:9003625	OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES		ISO	RGD:1318025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYF5-related condition | ClinVar Annotator: match by term: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES | ClinVar Annotator: match by term: Ophthalmoplegia, external, with rib and vertebral anomalies	PMID:25741868|PMID:28492532
12087802	OR4C12C	olfactory receptor family 4 subfamily C member 12C	gene	DOID:10283	prostate cancer		ISO	RGD:1350996	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12087802	OR4C12C	olfactory receptor family 4 subfamily C member 12C	gene	DOID:10283	prostate cancer		ISO	RGD:1350996	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0050882	spinocerebellar ataxia 5		ISO	RGD:731487	D	RGD:7240710	20180130	OMIM			
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0050882	spinocerebellar ataxia 5		ISO	RGD:731487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 5 | ClinVar Annotator: match by term: Spinocerebellar ataxia 5 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 5	PMID:16429157|PMID:20368622|PMID:20603325|PMID:22914369|PMID:23236289|PMID:25057192|PMID:25401298|PMID:25741868|PMID:25981959|PMID:26257771|PMID:26467025|PMID:26633542|PMID:26883385|PMID:28440294|PMID:28492532|PMID:2914369|PMID:29389947|PMID:29795474|PMID:31066025|PMID:31617442|PMID:31721007|PMID:31819260|PMID:33318253|PMID:33797620|PMID:33801522|PMID:34211179|PMID:38177409
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:25741868
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0080058	autosomal recessive spinocerebellar ataxia 14		IAGP		D	RGD:12801476	20250113	OMIA		Ataxia, spinocerebellar, SPTBN2-related	PMID:22781464|PMID:37341581|PMID:38003185
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0080058	autosomal recessive spinocerebellar ataxia 14		ISO	RGD:731487	D	RGD:7240710	20180130	OMIM			
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0080058	autosomal recessive spinocerebellar ataxia 14		ISO	RGD:731487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14 | ClinVar Annotator: match by term: CEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, SPECTRIN-ASSOCIATED, 1 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 | ClinVar Annotator: match by term: SPTBN2-related condition	PMID:25741868|PMID:26257771|PMID:26467025|PMID:28440294|PMID:28492532|PMID:31819260
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:0111428	essential tremor 1		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:26467025
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:10534	stomach cancer		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:1059	intellectual disability		ISO	RGD:731487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:25741868
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:1115	sarcoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:1324	lung cancer		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25401298|PMID:25741868
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:1909	melanoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:3275	thymoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:3459	breast carcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:4362	cervical cancer		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:630	genetic disease		ISO	RGD:731487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17121810|PMID:17940722|PMID:22914369|PMID:23236289|PMID:25741868|PMID:25981959|PMID:26257771|PMID:26467025|PMID:28440294|PMID:28492532|PMID:2914369|PMID:29389947|PMID:29795474|PMID:31066025|PMID:31617442|PMID:31819260|PMID:33318253
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:731487	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:26467025
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9004866	Ataxia		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087805	SPTBN2	spectrin beta, non-erythrocytic 2	gene	DOID:9256	colorectal cancer		ISO	RGD:731487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:7240710	20180307	OMIM			
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:0080575	Larsen-like syndrome B3GAT3 type		ISO	RGD:1323698	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Larsen-like syndrome, B3GAT3 type | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	PMID:16199547|PMID:17576681|PMID:21763480|PMID:25741868|PMID:25893793|PMID:26086840|PMID:26633542|PMID:27271787|PMID:27871226|PMID:28229453|PMID:28492532|PMID:28771243|PMID:31196143|PMID:31438591|PMID:31988067|PMID:34537402|PMID:35000503|PMID:9536098
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:11111	hydronephrosis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16815917|PMID:25741868
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:1909	melanoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16815917|PMID:25741868
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:630	genetic disease		ISO	RGD:1323698	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35000503
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16815917|PMID:25741868
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008189	Pyelectasis		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:16815917|PMID:25741868
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12087852	B3GAT3	beta-1,3-glucuronyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular adenoma	PMID:25741868
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:10534	stomach cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:1324	lung cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:1909	melanoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:4362	cervical cancer		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:4977	lymphedema		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603630	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:630	genetic disease		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:6691	Aagenaes syndrome		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aagenaes syndrome	PMID:25741868
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9003507	Premature Birth		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9004291	Osteootohepatoenteric Syndrome		ISO	RGD:1603630	D	RGD:7240710	20210616	OMIM			
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9004291	Osteootohepatoenteric Syndrome		ISO	RGD:1603630	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: OSTEOOTOHEPATOENTERIC SYNDROME | ClinVar Annotator: match by term: Osteootohepatoenteric syndrome | ClinVar Annotator: match by term: UNC45A-related condition	PMID:25741868|PMID:28492532|PMID:29429573|PMID:31231135|PMID:35575086
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12087869	UNC45A	unc-45 myosin chaperone A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32107557|PMID:32295079|PMID:32566746|PMID:32885271
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30374176|PMID:30651582|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32566746|PMID:32885271|PMID:33471991|PMID:34200360
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, protection against | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34200360
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16717288|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24784581|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26057125|PMID:26261251|PMID:26467025|PMID:26485759|PMID:26689913|PMID:26764160|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27153395|PMID:27273131|PMID:27616075|PMID:27878467|PMID:27978560|PMID:28135145|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28961279|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29470806|PMID:29522266|PMID:30086788|PMID:30111881|PMID:30165555|PMID:30374176|PMID:30651582|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32295079|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32885271|PMID:33471991|PMID:34117267|PMID:34200360
12087896	RAD51D	RAD51 paralog D	gene	DOID:1612	breast cancer		ISO	RGD:1315846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27854218|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29625052|PMID:30086788|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32359370|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:34200360|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34923718|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33151324|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31589614|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36988593|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33430302|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25786579|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10749867|PMID:11125122|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26292667|PMID:26296696|PMID:26328243|PMID:26432245|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681310|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27941862|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30192042|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30441849|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31341520|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31802016|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32029870|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32461613|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33430302|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33568819|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35977101|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344587|PMID:37344589|PMID:37461096|PMID:37723522|PMID:37833926|PMID:38118367|PMID:38153744|PMID:38905575|PMID:39126233|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1315846	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10749867|PMID:14704354|PMID:16717288|PMID:19327148|PMID:21111057|PMID:21822267|PMID:22986143|PMID:25186627|PMID:25741868|PMID:26681312|PMID:26720728|PMID:26845104|PMID:26976419|PMID:28492532|PMID:28646019|PMID:28888541|PMID:30192042|PMID:32427313
12087896	RAD51D	RAD51 paralog D	gene	DOID:5683	hereditary breast ovarian cancer syndrome	susceptibility	ISO	RGD:1315846	D	RGD:7240710	20190502	OMIM			
12087896	RAD51D	RAD51 paralog D	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1315846	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822267
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:32068069|PMID:32107557|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33471991|PMID:33901219|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33901219|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35565380|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34923718|PMID:35263119|PMID:35264596|PMID:35534704|PMID:35565380|PMID:35710434|PMID:36988593|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33203166|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:20665887|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30927251|PMID:30980208|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32008151|PMID:32068069|PMID:32107557|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33203166|PMID:33309985|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34838098|PMID:34887416|PMID:34923718|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35534704|PMID:35565380|PMID:35710434|PMID:35849291|PMID:35980532|PMID:36011273|PMID:36095024|PMID:36185283|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36988593|PMID:37024097|PMID:37231433|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344589|PMID:37461096|PMID:37833926|PMID:38153744|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1315846	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10749867|PMID:14704354|PMID:15170666|PMID:15537659|PMID:16199547|PMID:16236763|PMID:16717288|PMID:17576681|PMID:18058226|PMID:19033885|PMID:19327148|PMID:19347880|PMID:20054644|PMID:21111057|PMID:21822267|PMID:22275364|PMID:22415235|PMID:22652533|PMID:22986143|PMID:23372765|PMID:23810717|PMID:24130102|PMID:24139550|PMID:24240112|PMID:24784581|PMID:25085752|PMID:25111073|PMID:25186627|PMID:25318351|PMID:25340522|PMID:25445424|PMID:25452441|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26046366|PMID:26057125|PMID:26083025|PMID:26261251|PMID:26296696|PMID:26328243|PMID:26467025|PMID:26485759|PMID:26534844|PMID:26556299|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26720727|PMID:26720728|PMID:26764160|PMID:26822949|PMID:26824983|PMID:26845104|PMID:26976419|PMID:26979391|PMID:27016235|PMID:27083178|PMID:27153395|PMID:27273131|PMID:27433846|PMID:27443514|PMID:27616075|PMID:27720647|PMID:27878467|PMID:27913932|PMID:27941862|PMID:27978560|PMID:28008555|PMID:28135145|PMID:28152038|PMID:28281021|PMID:28301460|PMID:28423363|PMID:28492532|PMID:28495237|PMID:28522256|PMID:28591191|PMID:28640387|PMID:28646019|PMID:28709830|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28821472|PMID:28852190|PMID:28864920|PMID:28874143|PMID:28888541|PMID:28905878|PMID:28961279|PMID:29020732|PMID:29053726|PMID:29255180|PMID:29263802|PMID:29338689|PMID:29348823|PMID:29360550|PMID:29371908|PMID:29409816|PMID:29470806|PMID:29506128|PMID:29507080|PMID:29522266|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29758562|PMID:29778231|PMID:29915322|PMID:30086788|PMID:30093976|PMID:30103829|PMID:30111881|PMID:30165555|PMID:30257646|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30613976|PMID:30623411|PMID:30651582|PMID:30706980|PMID:30836272|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30927251|PMID:30980208|PMID:30982232|PMID:31007844|PMID:31159747|PMID:31206626|PMID:31248605|PMID:31300551|PMID:31575519|PMID:31589614|PMID:31642931|PMID:31780705|PMID:31843900|PMID:31844177|PMID:31911633|PMID:31922703|PMID:31948886|PMID:32068069|PMID:32091409|PMID:32107557|PMID:32191290|PMID:32242007|PMID:32255556|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32355288|PMID:32359370|PMID:32426482|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32620917|PMID:32658311|PMID:32756499|PMID:32832836|PMID:32863928|PMID:32885271|PMID:32906206|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33047316|PMID:33062672|PMID:33151324|PMID:33203166|PMID:33309985|PMID:33385275|PMID:33432021|PMID:33452952|PMID:33471991|PMID:33504652|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33649982|PMID:33785725|PMID:33804961|PMID:33858678|PMID:33901219|PMID:33939675|PMID:34117267|PMID:34200360|PMID:34284872|PMID:34298626|PMID:34326862|PMID:34433815|PMID:34601666|PMID:34606182|PMID:34793666|PMID:34838098|PMID:34887416|PMID:34917121|PMID:34923718|PMID:35014770|PMID:35039564|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35358259|PMID:35534704|PMID:35565380|PMID:35641994|PMID:35710434|PMID:35712480|PMID:35849291|PMID:35861108|PMID:35884425|PMID:35977101|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36095024|PMID:36113475|PMID:36185283|PMID:36225625|PMID:36243179|PMID:36315097|PMID:36537080|PMID:36544182|PMID:36685941|PMID:36744932|PMID:36988593|PMID:37024097|PMID:37069702|PMID:37193789|PMID:37231433|PMID:37344587|PMID:37344589|PMID:37461096|PMID:37723522|PMID:37833926|PMID:38118367|PMID:38153744|PMID:38905575|PMID:39126233|PMID:6329717|PMID:9536098
12087896	RAD51D	RAD51 paralog D	gene	DOID:9008165	Chromosome Deletion		ISO	RGD:1315846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27924006
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1319493	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:0061283	Senior-Loken syndrome 9		ISO	RGD:1319493	D	RGD:7240710	20180130	OMIM			
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:0061283	Senior-Loken syndrome 9		ISO	RGD:1319493	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 9 | ClinVar Annotator: match by term: Senior-Loken syndrome 9 | ClinVar Annotator: match by term: TRAF3IP1-related condition	PMID:16199547|PMID:21945076|PMID:25741868|PMID:26487268|PMID:28492532|PMID:29068549
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1319493	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:1148	polydactyly		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1319493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ellis-van Creveld syndrome	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:28492532
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087910	TRAF3IP1	TRAF3 interacting protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12087933	RHEX	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087933	RHEX	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:1115	sarcoma		ISO	RGD:1606860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087933	RHEX	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:5041	esophageal cancer		ISO	RGD:1606860	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087933	RHEX	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087933	RHEX	regulator of hemoglobinization and erythroid cell expansion	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12087943	STXBP6	syntaxin binding protein 6	gene	DOID:12849	autistic disorder		ISO	RGD:1314544	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20071347
12087943	STXBP6	syntaxin binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314544	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:1115	sarcoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1317405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12087959	DENND1A	DENN domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12087993	CDC25C	cell division cycle 25C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12087993	CDC25C	cell division cycle 25C	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD			PMID:12931023|REF_RGD_ID:4105452
12087993	CDC25C	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD			PMID:12896904|PMID:16140946|PMID:17460776|REF_RGD_ID:2756028|REF_RGD_ID:2774210|REF_RGD_ID:4105453
12087993	CDC25C	cell division cycle 25C	gene	DOID:10283	prostate cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		mRNA, protein:alternative form, increased expression, increased activity:prostate gland	PMID:16000564|REF_RGD_ID:2776427
12087993	CDC25C	cell division cycle 25C	gene	DOID:10534	stomach cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12087993	CDC25C	cell division cycle 25C	gene	DOID:1115	sarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12087993	CDC25C	cell division cycle 25C	gene	DOID:1380	endometrial cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		DNA:mutation (human)	PMID:12124347|REF_RGD_ID:4105455
12087993	CDC25C	cell division cycle 25C	gene	DOID:1612	breast cancer		ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15567944|REF_RGD_ID:4105448
12087993	CDC25C	cell division cycle 25C	gene	DOID:2101	vulva squamous cell carcinoma	disease_progression	ISO	RGD:1323559	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:20500813|REF_RGD_ID:2729590
12087993	CDC25C	cell division cycle 25C	gene	DOID:2394	ovarian cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12087993	CDC25C	cell division cycle 25C	gene	DOID:4362	cervical cancer		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12087993	CDC25C	cell division cycle 25C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12087993	CDC25C	cell division cycle 25C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12087993	CDC25C	cell division cycle 25C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12087993	CDC25C	cell division cycle 25C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12087993	CDC25C	cell division cycle 25C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323559	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:734036	D	RGD:9068941	20220825	MouseDO			
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:734035	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy	PMID:25741868|PMID:26392352|PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:734035	D	RGD:7240710	20211020	OMIM			
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:734035	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:18303054|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29289840|PMID:32296180
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:734035	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:11179008|PMID:11179021|PMID:12116234|PMID:16199547|PMID:16964593|PMID:17206408|PMID:17576681|PMID:18303054|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:24173031|PMID:25741868|PMID:26392352|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29762696|PMID:32296180|PMID:9536098
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:734035	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:16199547|PMID:17576681|PMID:18303054|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:32296180|PMID:34687117|PMID:35199222|PMID:9536098
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:0060249	scoliosis		ISO	RGD:734035	D	RGD:9068941	20200609	RGD			PMID:11097445|REF_RGD_ID:5129159
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:734035	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10090896|PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16964593|PMID:17206408|PMID:18091349|PMID:18197058|PMID:20301359|PMID:22190446|PMID:22850346|PMID:22975760|PMID:23515154|PMID:24033266|PMID:25741868|PMID:27065010|PMID:28492532|PMID:29289840|PMID:29290691|PMID:9536098
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:11589	familial dysautonomia		ISO	RGD:734035	D	RGD:7240710	20180130	OMIM			
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:11589	familial dysautonomia		ISO	RGD:734035	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DYSAUTONOMIA, FAMILIAL | ClinVar Annotator: match by term: Dysautonomia, familial | ClinVar Annotator: match by term: ELP1-related condition | ClinVar Annotator: match by term: FD | ClinVar Annotator: match by term: Familial dysautonomia | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type III	PMID:11179008|PMID:11179021|PMID:12116234|PMID:12687659|PMID:16199547|PMID:17576681|PMID:18091349|PMID:18197058|PMID:18303054|PMID:19262150|PMID:22975760|PMID:24173031|PMID:25741868|PMID:26392352|PMID:28492532|PMID:29290691|PMID:32296180|PMID:34687117|PMID:35199222|PMID:36413997|PMID:9536098
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:11830	myopia		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:734035	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Gaucher disease	PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:2841	asthma		ISO	RGD:734035	D	RGD:9068941	20200609	RGD			PMID:11281413|REF_RGD_ID:5129157
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:2841	asthma	no_association	ISO	RGD:734035	D	RGD:9068941	20200609	RGD			PMID:12774215|REF_RGD_ID:5129158
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:4667	kyphosis		ISO	RGD:734035	D	RGD:9068941	20200609	RGD			PMID:11097445|REF_RGD_ID:5129159
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9001733	Tinnitus		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9002669	Hypoxia		ISO	RGD:734035	D	RGD:9068941	20260205	RGD		associated with chronic obstructive pulmonary disease;mRNA:increased expression:white adipose tissue	PMID:22798194|REF_RGD_ID:632517892
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9003171	Primary Dysautonomias		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: primary dysautonomia	PMID:25741868
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088032	ELP1	elongator acetyltransferase complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:1324	lung cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:3070	high grade glioma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088079	NUDT14	nudix hydrolase 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12088092	LOC100685852	protein WFDC9-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088121	LOC100687870	metallothionein-2-like	gene	DOID:0080600	COVID-19		ISO	RGD:1349010	D	RGD:9068941	20230727	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12088121	LOC100687870	metallothionein-2-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12088121	LOC100687870	metallothionein-2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088121	LOC100687870	metallothionein-2-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1316469	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088122	POFUT2	protein O-fucosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318953	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1318953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671688
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:9004592	Oocyte/Zygote/Embryo Maturation Arrest 13		ISO	RGD:1318953	D	RGD:7240710	20221214	OMIM			
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:9004592	Oocyte/Zygote/Embryo Maturation Arrest 13		ISO	RGD:1318953	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 13	PMID:25741868|PMID:34611029
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088136	ZFP36L2	ZFP36 ring finger protein like 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12088142	ZFX	zinc finger protein X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:0060313	tracheomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:10892	hypospadias		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:11202	primary hyperparathyroidism		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary hyperparathyroidism	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:11836	clubfoot		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:1909	melanoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1344344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:769	neuroblastoma		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:850	lung disease		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9001510	Funnel Chest		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9001809	Urinary Retention		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urinary retention	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9003700	Tracheobronchomalacia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheobronchomalacia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9005616	Micrognathism		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9007817	Macroglossia		ISO	RGD:1344344	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:7240710	20240515	OMIM			
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9008780	syndromic X-linked intellectual developmental disorder 37		ISO	RGD:1344344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37 | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic 37	PMID:25741868|PMID:32406922|PMID:38325380|PMID:41074764
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088142	ZFX	zinc finger protein X-linked	gene	DOID:9256	colorectal cancer		ISO	RGD:1344344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12088259	ATP5MC2	ATP synthase membrane subunit c locus 2	gene	DOID:9970	obesity		ISO	RGD:731824	D	RGD:9068941	20200609	RGD			PMID:26709097|REF_RGD_ID:11535661
12088272	ITPKA	inositol-trisphosphate 3-kinase A	gene	DOID:3070	high grade glioma		ISO	RGD:732603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12088272	ITPKA	inositol-trisphosphate 3-kinase A	gene	DOID:3275	thymoma		ISO	RGD:732603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088272	ITPKA	inositol-trisphosphate 3-kinase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088284	BEST2	bestrophin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088284	BEST2	bestrophin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088284	BEST2	bestrophin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12088306	ZP2	zona pellucida glycoprotein 2	gene	DOID:0080436	developmental and epileptic encephalopathy 4		ISO	RGD:735363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4	PMID:25741868
12088306	ZP2	zona pellucida glycoprotein 2	gene	DOID:9001599	Oocyte/Zygote/Embryo Maturation Arrest 6		ISO	RGD:735363	D	RGD:7240710	20190315	OMIM			
12088306	ZP2	zona pellucida glycoprotein 2	gene	DOID:9001599	Oocyte/Zygote/Embryo Maturation Arrest 6		ISO	RGD:735363	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 6 | ClinVar Annotator: match by term: Oocyte maturation defect 6	PMID:25741868|PMID:28971300|PMID:35211729
12088306	ZP2	zona pellucida glycoprotein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088328	C15H1orf94	chromosome 15 C1orf94 homolog	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12088328	C15H1orf94	chromosome 15 C1orf94 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088328	C15H1orf94	chromosome 15 C1orf94 homolog	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1602848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1560027	D	RGD:9068941	20200609	RGD			PMID:12957493|REF_RGD_ID:1579851
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:1459	hypothyroidism		ISO	RGD:1560027	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain:	PMID:12859688|REF_RGD_ID:1579855
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:1824	status epilepticus		ISO	RGD:1560027	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus:	PMID:17577668|REF_RGD_ID:9685310
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1348119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:8927	learning disability		ISO	RGD:1560027	D	RGD:9068941	20200609	RGD			PMID:23545166|REF_RGD_ID:9685325
12088340	ELAVL4	ELAV like RNA binding protein 4	gene	DOID:9002189	High Myopia		ISO	RGD:1348119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:7240710	20180130	OMIM			
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OGDH-related disorder | ClinVar Annotator: match by term: OXOGLUTARATE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: Oxoglutaricaciduria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32383294|PMID:36520152|PMID:40794449|PMID:9536098
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:1353072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12088367	OGDH	oxoglutarate dehydrogenase	gene	DOID:9256	colorectal cancer		ISO	RGD:1353072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:10534	stomach cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:1115	sarcoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:1909	melanoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:4362	cervical cancer		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:5041	esophageal cancer		ISO	RGD:1314899	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:1314899	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088368	ACP6	acid phosphatase 6, lysophosphatidic	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088399	TCTN2	tectonic family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:17576681|PMID:21462283|PMID:21565611|PMID:25118024|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0070120	Meckel syndrome 6		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 6	PMID:16199547|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25741868|PMID:26729329|PMID:27894351|PMID:28492532|PMID:31428121|PMID:32552793
12088399	TCTN2	tectonic family member 2	gene	DOID:0070122	Meckel syndrome 8		ISO	RGD:1605624	D	RGD:7240710	20180130	OMIM			
12088399	TCTN2	tectonic family member 2	gene	DOID:0070122	Meckel syndrome 8		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meckel syndrome 8 | ClinVar Annotator: match by term: Meckel syndrome, type 8 | ClinVar Annotator: match by term: TCTN2-Related Disorders | ClinVar Annotator: match by term: TCTN2-related disorder	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis	PMID:16199547|PMID:17576681|PMID:21565611|PMID:22331178|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:28492532|PMID:28771248|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:28492532|PMID:28771248|PMID:31428121|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:22331178|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:24033266|PMID:25118024|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:0110993	Joubert syndrome 24		ISO	RGD:1605624	D	RGD:7240710	20180130	OMIM			
12088399	TCTN2	tectonic family member 2	gene	DOID:0110993	Joubert syndrome 24		ISO	RGD:1605624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 24 | ClinVar Annotator: match by term: Joubert syndrome 24	PMID:16199547|PMID:17576681|PMID:21462283|PMID:21565611|PMID:23169490|PMID:25118024|PMID:25741868|PMID:26092869|PMID:26729329|PMID:27894351|PMID:28492532|PMID:28771248|PMID:31428121|PMID:32552793|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088399	TCTN2	tectonic family member 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
12088399	TCTN2	tectonic family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088399	TCTN2	tectonic family member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088399	TCTN2	tectonic family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12088399	TCTN2	tectonic family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088399	TCTN2	tectonic family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:576	proteinuria		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12088399	TCTN2	tectonic family member 2	gene	DOID:630	genetic disease		ISO	RGD:1605624	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12088399	TCTN2	tectonic family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088399	TCTN2	tectonic family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312753	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:7240710	20240306	OMIM			
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:9007532	TAN-ALMURSHEDI SYNDROME		ISO	RGD:1312753	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: TAN-ALMURSHEDI SYNDROME	PMID:25741868|PMID:37179472
12088423	DRG1	developmentally regulated GTP binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088436	KLHDC2	kelch domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:1115	sarcoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:1324	lung cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:1909	melanoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:2394	ovarian cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:3275	thymoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:4362	cervical cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:5041	esophageal cancer		ISO	RGD:1312596	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088456	DDX31	DEAD-box helicase 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312596	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313344	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088501	MAPKAP1	MAPK associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20075336
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27765815
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16574099|PMID:29289645
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:10534	stomach cancer		ISO	RGD:736289	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:736289	D	RGD:9068941	20200609	RGD			PMID:17652168|REF_RGD_ID:2324872
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:1909	melanoma		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28962521
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:4607	biliary tract cancer		ISO	RGD:736289	D	RGD:9068941	20200609	RGD			PMID:18497548|REF_RGD_ID:2324871
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:574	peripheral nervous system disease		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405|PMID:21245421
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3370	D	RGD:9068941	20200609	RGD			PMID:20058304|REF_RGD_ID:2324875
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3370	D	RGD:9068941	20200609	RGD			PMID:15728586|REF_RGD_ID:1580656
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9003936	Cardiomegaly		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20075336
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19748995|PMID:21159610
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9004657	Weight Gain		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20176998
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3370	D	RGD:9068941	20200609	RGD			PMID:17461989|REF_RGD_ID:2324886
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3370	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart	PMID:18573863|REF_RGD_ID:2313781
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3370	D	RGD:9068941	20200609	RGD			PMID:19997057|REF_RGD_ID:2324876
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736289	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16804087|REF_RGD_ID:1625186
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9452	steatotic liver disease		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23851158
12088534	PPARD	peroxisome proliferator activated receptor delta	gene	DOID:9970	obesity		ISO	RGD:736289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052|PMID:20176998
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088562	SLC45A4	solute carrier family 45 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26220752
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:1380	endometrial cancer		ISO	RGD:1351097	D	RGD:9068941	20200609	RGD		DNA:SNP:haplotype:rs3736599 (GA+AA) combined with SULT1A1 SNP rs9282861 (GA + AA) or with CYP1A1 SNP rs4646903 (TT)	PMID:18318428|REF_RGD_ID:2301040
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1351097	D	RGD:9068941	20200609	RGD		DNA:SNP:intron, 3' utr:IVS4-1653T>C, *959G>A	PMID:15894657|REF_RGD_ID:1581439
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1351097	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-64G>A	PMID:17372239|REF_RGD_ID:2302563
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:409	liver disease		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25922074
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:3776	D	RGD:9068941	20200609	RGD		associated with Colonic Neoplasms;protein:increased expression:liver	PMID:16895976|REF_RGD_ID:2302565
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25922074
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3776	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16908442|REF_RGD_ID:2302564
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351097	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12088584	LOC482182	sulfotransferase 1E1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088596	HOXA1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:7240710	20180130	OMIM			
12088596	HOXA1	homeobox A1	gene	DOID:0050682	Athabaskan brainstem dysgenesis syndrome		ISO	RGD:737614	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BOSLEY-SALIH-ALORAINY SYNDROME | ClinVar Annotator: match by term: Bosley-Salih-Alorainy syndrome | ClinVar Annotator: match by term: HOXA1-related condition | ClinVar Annotator: match by term: HOXA1-related disorder	PMID:25741868|PMID:28492532
12088596	HOXA1	homeobox A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088596	HOXA1	homeobox A1	gene	DOID:0060041	autism spectrum disorder	no_association	ISO	RGD:737614	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:218A>G(human)	PMID:14681917|REF_RGD_ID:11553826
12088596	HOXA1	homeobox A1	gene	DOID:10534	stomach cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088596	HOXA1	homeobox A1	gene	DOID:1059	intellectual disability		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12088596	HOXA1	homeobox A1	gene	DOID:1115	sarcoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088596	HOXA1	homeobox A1	gene	DOID:12849	autistic disorder		ISO	RGD:737614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11091361
12088596	HOXA1	homeobox A1	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:737614	D	RGD:9068941	20200806	RGD		DNA:missense mutation:cds:p.H73R (human)	PMID:14960295|REF_RGD_ID:1358730
12088596	HOXA1	homeobox A1	gene	DOID:1324	lung cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088596	HOXA1	homeobox A1	gene	DOID:1682	congenital heart disease		ISO	RGD:737614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21940751
12088596	HOXA1	homeobox A1	gene	DOID:3275	thymoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088596	HOXA1	homeobox A1	gene	DOID:4362	cervical cancer		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088596	HOXA1	homeobox A1	gene	DOID:5041	esophageal cancer		ISO	RGD:737614	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088596	HOXA1	homeobox A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088596	HOXA1	homeobox A1	gene	DOID:630	genetic disease		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12088596	HOXA1	homeobox A1	gene	DOID:9003270	Microtia-Anotia		ISO	RGD:13932952	D	RGD:9068941	20210604	OMIA		Microtia	PMID:26035869
12088596	HOXA1	homeobox A1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
12088596	HOXA1	homeobox A1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737614	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10529420
12088596	HOXA1	homeobox A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088608	CFD	complement factor D	gene	DOID:10320	asbestosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22832039
12088608	CFD	complement factor D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088608	CFD	complement factor D	gene	DOID:1556	arthus reaction		ISO	RGD:2498	D	RGD:9068941	20200609	RGD			PMID:10605043|REF_RGD_ID:1624328
12088608	CFD	complement factor D	gene	DOID:289	endometriosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12088608	CFD	complement factor D	gene	DOID:2921	glomerulonephritis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14675043
12088608	CFD	complement factor D	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22832039
12088608	CFD	complement factor D	gene	DOID:5119	ovarian cyst		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12088608	CFD	complement factor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12088608	CFD	complement factor D	gene	DOID:6000	congestive heart failure		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
12088608	CFD	complement factor D	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11457876|PMID:16527897
12088608	CFD	complement factor D	gene	DOID:9001385	Complement Factor D Deficiency		ISO	RGD:736531	D	RGD:7240710	20180130	OMIM			
12088608	CFD	complement factor D	gene	DOID:9001385	Complement Factor D Deficiency		ISO	RGD:736531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CFD-related condition | ClinVar Annotator: match by term: Recurrent Neisseria infections due to factor D deficiency	PMID:25741868|PMID:28492532|PMID:38096369
12088608	CFD	complement factor D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12088608	CFD	complement factor D	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2498	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:8372111|REF_RGD_ID:1624344
12088608	CFD	complement factor D	gene	DOID:9006474	Arterial Occlusive Diseases		ISO	RGD:736531	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:leg blood vessel (human)	PMID:22721676|REF_RGD_ID:401793723
12088608	CFD	complement factor D	gene	DOID:9008366	Meningococcal Infections		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16527897
12088608	CFD	complement factor D	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:736531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11457876
12088608	CFD	complement factor D	gene	DOID:9008632	gastrointestinal toxicity		ISO	RGD:2498	D	RGD:9068941	20260409	RGD		mRNA,protein:increased expression: ileum,plasma, feces :	PMID:12949072|REF_RGD_ID:1298875
12088608	CFD	complement factor D	gene	DOID:9970	obesity		ISO	RGD:2498	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:adipocyte, serum	PMID:2197880|REF_RGD_ID:1624327
12088608	CFD	complement factor D	gene	DOID:9970	obesity		ISO	RGD:736531	D	RGD:9068941	20200609	RGD			PMID:14564690|REF_RGD_ID:1624324
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1312414	D	RGD:9068941	20220825	MouseDO			
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:9000046	Poisoning		ISO	RGD:1312413	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21964422
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12088622	XIRP1	xin actin binding repeat containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12088634	MATN4	matrilin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088634	MATN4	matrilin 4	gene	DOID:10907	microcephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12088634	MATN4	matrilin 4	gene	DOID:1324	lung cancer		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088634	MATN4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25558065
12088634	MATN4	matrilin 4	gene	DOID:1826	epilepsy		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	
12088634	MATN4	matrilin 4	gene	DOID:4621	holoprosencephaly		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly | ClinVar Annotator: match by term: Holoprosencephaly sequence	
12088634	MATN4	matrilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088634	MATN4	matrilin 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320229	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12088634	MATN4	matrilin 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12088634	MATN4	matrilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088634	MATN4	matrilin 4	gene	DOID:930	orbital disease		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	
12088634	MATN4	matrilin 4	gene	DOID:9409	diabetes insipidus		ISO	RGD:1320229	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	
12088656	CPN2	carboxypeptidase N subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088656	CPN2	carboxypeptidase N subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346122	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088662	THBS4	thrombospondin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:735475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088662	THBS4	thrombospondin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088662	THBS4	thrombospondin 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12088662	THBS4	thrombospondin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088662	THBS4	thrombospondin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088687	TAOK2	TAO kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1351729	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12088687	TAOK2	TAO kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088687	TAOK2	TAO kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088687	TAOK2	TAO kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1351729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12088687	TAOK2	TAO kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351729	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088687	TAOK2	TAO kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088687	TAOK2	TAO kinase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: TAOK2-associated neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:29467497|PMID:39737487
12088687	TAOK2	TAO kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:10534	stomach cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1115	sarcoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1324	lung cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:1909	melanoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:3275	thymoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4362	cervical cancer		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088727	NAGPA	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:1324	lung cancer		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:3275	thymoma		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:4362	cervical cancer		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088742	NCS1	neuronal calcium sensor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20657642
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20207350
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:2913	acute pancreatitis		ISO	RGD:620798	D	RGD:9068941	20200609	RGD			PMID:12510864|REF_RGD_ID:9588676
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736711	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO	
12088754	MTNR1B	melatonin receptor 1B	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736711	D	RGD:7240710	20230505	OMIM			
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:10534	stomach cancer		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:1059	intellectual disability		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:1324	lung cancer		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:733156	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:1389	polyneuropathy		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:1909	melanoma		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:423	myopathy		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:540	strabismus		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:630	genetic disease		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532|PMID:36325899
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:870	neuropathy		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9001603	Hypertriglyceridemia, Transient Infantile		ISO	RGD:733156	D	RGD:7240710	20180130	OMIM			
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9001603	Hypertriglyceridemia, Transient Infantile		ISO	RGD:733156	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPD1-related condition | ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE | ClinVar Annotator: match by term: Transient infantile hypertriglyceridemia and hepatosteatosis	PMID:22226083|PMID:25741868|PMID:28492532|PMID:32591995|PMID:32685347|PMID:36325899|PMID:36588760
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:733156	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12088761	GPD1	glycerol-3-phosphate dehydrogenase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:733156	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
12088777	PRSS56	serine protease 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088777	PRSS56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:7240710	20180130	OMIM			
12088777	PRSS56	serine protease 56	gene	DOID:0060835	isolated microphthalmia 6		ISO	RGD:5128927	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, ISOLATED 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC | ClinVar Annotator: match by term: Microphthalmia, isolated 6 | ClinVar Annotator: match by term: PRSS56-related condition	PMID:16199547|PMID:17576681|PMID:19526372|PMID:21397065|PMID:21532570|PMID:21670352|PMID:21850159|PMID:22908982|PMID:23127749|PMID:24033266|PMID:24227917|PMID:25587058|PMID:25741868|PMID:28492532|PMID:29450879|PMID:31266062|PMID:31992737|PMID:32052405|PMID:32830442|PMID:32996714|PMID:33203948|PMID:35610621|PMID:38749530|PMID:9536098
12088777	PRSS56	serine protease 56	gene	DOID:0080634	nanophthalmos		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nanophthalmia	PMID:25741868
12088777	PRSS56	serine protease 56	gene	DOID:10629	microphthalmia		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
12088777	PRSS56	serine protease 56	gene	DOID:11830	myopia		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23396134
12088777	PRSS56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1620006	D	RGD:9068941	20250626	MouseDO			
12088777	PRSS56	serine protease 56	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:5128927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532570
12088777	PRSS56	serine protease 56	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:5128927	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12088777	PRSS56	serine protease 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088777	PRSS56	serine protease 56	gene	DOID:630	genetic disease		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12088777	PRSS56	serine protease 56	gene	DOID:9834	hyperopia		ISO	RGD:5128927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12088801	S100P	S100 calcium binding protein P	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1344746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12088801	S100P	S100 calcium binding protein P	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1344746	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31066245
12088807	TSPAN9	tetraspanin 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12088807	TSPAN9	tetraspanin 9	gene	DOID:1324	lung cancer		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088807	TSPAN9	tetraspanin 9	gene	DOID:1909	melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088807	TSPAN9	tetraspanin 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088807	TSPAN9	tetraspanin 9	gene	DOID:6039	uveal melanoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12088807	TSPAN9	tetraspanin 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088807	TSPAN9	tetraspanin 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0050564	autosomal dominant nonsyndromic deafness		ISO	RGD:735396	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0060260	ptosis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0060305	megalocornea		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0060465	fibrochondrogenesis		ISO	RGD:735396	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: FIBROCHONDROGENESIS | ClinVar Annotator: match by term: Fibrochondrogenesis	PMID:21035103|PMID:23922384|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0070601	autosomal dominant nonsyndromic deafness 37		ISO	RGD:735396	D	RGD:7240710	20260805	OMIM			
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0070601	autosomal dominant nonsyndromic deafness 37		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 37 | ClinVar Annotator: match by term: Deafness, autosomal dominant 37	PMID:10486316|PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:29620724|PMID:30311386|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33169910|PMID:33348901|PMID:33951325|PMID:34515852|PMID:35325889|PMID:38410152|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:10486316|PMID:10573014|PMID:15286167|PMID:16199547|PMID:17576681|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28000701|PMID:28492532|PMID:29453956|PMID:32427345|PMID:32756486|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080672	fibrochondrogenesis 1		ISO	RGD:735396	D	RGD:7240710	20260805	OMIM			
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080672	fibrochondrogenesis 1		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Fibrochondrogenesis 1	PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:23967202|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29620724|PMID:31848469|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33348901|PMID:33951325|PMID:34515852|PMID:35325889|PMID:35682719|PMID:37079061|PMID:38410152|PMID:38712494|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080675	Stickler syndrome 2		ISO	RGD:735396	D	RGD:7240710	20260805	OMIM			
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080675	Stickler syndrome 2		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE II | ClinVar Annotator: match by term: STICKLER SYNDROME, VITREOUS TYPE 2 | ClinVar Annotator: match by term: Stickler syndrome type 2 | ClinVar Annotator: match by term: Stickler syndrome, beaded vitreous type	PMID:10486316|PMID:10725403|PMID:11668615|PMID:16199547|PMID:17576681|PMID:19344236|PMID:19449424|PMID:20301479|PMID:20513134|PMID:21035103|PMID:21668896|PMID:22499343|PMID:23026214|PMID:23922384|PMID:23967202|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:27081549|PMID:27081569|PMID:27124789|PMID:28492532|PMID:28983407|PMID:29453956|PMID:29620724|PMID:30020262|PMID:30919572|PMID:31848469|PMID:32371413|PMID:32427345|PMID:32552793|PMID:32578940|PMID:32756486|PMID:33348901|PMID:33951325|PMID:34515852|PMID:34589056|PMID:34627339|PMID:35325889|PMID:35682719|PMID:35741851|PMID:35885918|PMID:37079061|PMID:37644014|PMID:38410152|PMID:38712494|PMID:9529347|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0080918	polymicrogyria		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:735396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:735396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0111510	Marshall syndrome		ISO	RGD:735396	D	RGD:7240710	20260805	OMIM			
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0111510	Marshall syndrome		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: MARSHALL SYNDROME | ClinVar Annotator: match by term: Marshall syndrome	PMID:10486316|PMID:16199547|PMID:17576681|PMID:19449424|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29620724|PMID:30020262|PMID:32427345|PMID:32552793|PMID:32756486|PMID:32963807|PMID:33348901|PMID:33951325|PMID:34589056|PMID:34627339|PMID:35325889|PMID:9529347|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:0111510	Marshall syndrome	susceptibility	ISO	RGD:735396	D	RGD:9068941	20260806	RGD		DNA:SNP:splice junction:	PMID:9529347|REF_RGD_ID:1600881
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:11383	cryptorchidism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:735396	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922875|PMID:27064256
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1657	ventricular septal defect		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:735396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25073711|PMID:25741868|PMID:27081569|PMID:28983407|PMID:32558342|PMID:32578940
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:1969	cerebral palsy		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:2355	anemia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:3070	high grade glioma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:3087	gingivitis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:4977	lymphedema		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23967202|PMID:25741868|PMID:28492532|PMID:38712494
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:5119	ovarian cyst		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30020262|PMID:30311386|PMID:32427345|PMID:32756486|PMID:33951325|PMID:34589056|PMID:34627339|PMID:35325889|PMID:9529347
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:65	connective tissue disease		ISO	RGD:735396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:15922184|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30753492|PMID:31848469|PMID:37086329|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:674	cleft palate		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:735396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: sporadic abdominal aortic aneurysm	PMID:17182944
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:83	cataract		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:10486316|PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:8398	osteoarthritis		ISO	RGD:735397	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:8501	fundus dystrophy		ISO	RGD:735396	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532|PMID:37079061
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:735396	D	RGD:7240710	20260805	OMIM			
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:735396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTERVERTEBRAL DISC DISEASE | ClinVar Annotator: match by term: Intervertebral disc disease	PMID:17576681|PMID:20513134|PMID:21035103|PMID:21668896|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:29620724|PMID:32427345|PMID:32552793|PMID:32756486|PMID:33348901|PMID:33951325|PMID:35325889|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9000660	Choristoma		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopic tissue	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9001224	Striae Distensae		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9001510	Funnel Chest		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10486316|PMID:16199547|PMID:17576681|PMID:19449424|PMID:20513134|PMID:21035103|PMID:23922384|PMID:23967202|PMID:25073711|PMID:25240749|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30020262|PMID:32427345|PMID:32756486|PMID:33951325|PMID:34589056|PMID:34627339|PMID:38712494|PMID:9529347|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9003591	Telecanthus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30311386|PMID:9536098
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9005444	Torsades de Pointes		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torsades de pointes	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9005570	Marshall/Stickler Syndrome		ISO	RGD:735396	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARSHALL/STICKLER SYNDROME	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9005616	Micrognathism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17999364
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9007114	Mobility Limitation		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:20513134|PMID:21035103|PMID:23922384|PMID:25240749|PMID:25741868|PMID:28492532|PMID:32427345|PMID:32756486
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9007923	Back Pain		ISO	RGD:735396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:735396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19638309
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12088835	COL11A1	collagen type XI alpha 1 chain	gene	DOID:9849	Meniere's disease		ISO	RGD:735396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868|PMID:28492532|PMID:31848469
12088921	CCDC168	coiled-coil domain containing 168	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:4109693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1614795	D	RGD:9068941	20220825	MouseDO		OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:31456290|PMID:33584783|PMID:34008892|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34582790|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:36788019|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:19763152|PMID:20307669|PMID:22353939|PMID:22406018|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30902645|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35360848|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17397051|PMID:17576681|PMID:18327255|PMID:18414213|PMID:19466712|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:28125082|PMID:28492532|PMID:28497568|PMID:28771248|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:35587316|PMID:36788019|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meckel Gruber syndrome | ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18414213|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ciliopathy	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:7240710	20180130	OMIM			
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35587316|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35587316|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: MECKEL SYNDROME, TYPE 1 | ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Meckel syndrome type 1 | ClinVar Annotator: match by term: Meckel syndrome type1 | ClinVar Annotator: match by term: Meckel syndrome, type 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19466712|PMID:19776033|PMID:21228398|PMID:23169490|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28125082|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:35587316|PMID:36460718|PMID:36658419|PMID:36788019|PMID:37131188|PMID:37880672|PMID:38039006|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:7240710	20180130	OMIM			
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110135	Bardet-Biedl syndrome 13		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 13 | ClinVar Annotator: match by term: Bardet-Biedl syndrome 13	PMID:16199547|PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:28981474|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110329	Leber congenital amaurosis 6		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 6	PMID:17397051|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31191208|PMID:35587316|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:29620724|PMID:30076350|PMID:30718709|PMID:31191208|PMID:33584783|PMID:34008892|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:17185389|PMID:17397051|PMID:19466712|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26490104|PMID:28492532|PMID:34008892
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30076350|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34359301|PMID:34582790|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:20301500|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:23169490|PMID:23351400|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:19763152|PMID:20301500|PMID:20307669|PMID:21068128|PMID:21228398|PMID:21258341|PMID:22353939|PMID:22406018|PMID:23169490|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:26862157|PMID:27353947|PMID:27377014|PMID:27570071|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:30902645|PMID:31191208|PMID:31456290|PMID:31964843|PMID:33193692|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34359301|PMID:34426522|PMID:34573333|PMID:34582790|PMID:35360848|PMID:35587316|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:16415886|PMID:17185389|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:18327255|PMID:19430481|PMID:19466712|PMID:21068128|PMID:21258341|PMID:23351400|PMID:23602711|PMID:23736532|PMID:24033266|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:25966130|PMID:26092869|PMID:26490104|PMID:27353947|PMID:27377014|PMID:28224992|PMID:28289063|PMID:28492532|PMID:28497568|PMID:28771248|PMID:29620724|PMID:30055837|PMID:30076350|PMID:30679815|PMID:30718709|PMID:30793526|PMID:31456290|PMID:31964843|PMID:32483926|PMID:33584783|PMID:34008892|PMID:34011629|PMID:34426522|PMID:34573333|PMID:34582790|PMID:37431782|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:7240710	20190315	OMIM			
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0110997	Joubert Syndrome 28		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 28 | ClinVar Annotator: match by term: Joubert syndrome 28	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:19466712|PMID:23351400|PMID:24608809|PMID:24886560|PMID:25363768|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:28497568|PMID:30055837|PMID:30076350|PMID:31191208|PMID:31964843|PMID:33584783|PMID:34011629|PMID:35587316|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:10907	microcephaly		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:24608809|PMID:25741868|PMID:27377014|PMID:28492532|PMID:30076350|PMID:33584783|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1148	polydactyly		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1283	enterocele		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:2846	bruxism		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:3086	gingival overgrowth		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:28492532
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:535	sleep disorder		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:5723	optic atrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1614795	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23105016|PMID:25741868|PMID:28492532|PMID:3442652
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intracranial hemorrhage	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:18327255|PMID:25741868|PMID:28125082|PMID:28492532|PMID:28497568|PMID:34008892|PMID:36788019
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:25741868
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9006617	Fatigue		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27377014|PMID:27570071|PMID:28492532|PMID:37131188|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9008268	Enuresis		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:24608809|PMID:25741868|PMID:28492532|PMID:30076350|PMID:33584783
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1352123	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Rotary nystagmus	PMID:24886560|PMID:25741868|PMID:26092869|PMID:26490104|PMID:27570071|PMID:28492532|PMID:37131188
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:9840	esotropia		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088929	MKS1	MKS transition zone complex subunit 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1352123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:16415886|PMID:17377820|PMID:17397051|PMID:17437276|PMID:17576681|PMID:17935508|PMID:23351400|PMID:25741868|PMID:27377014|PMID:28492532|PMID:9536098
12088973	LOC102153034	calmodulin-like protein 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1313562	D	RGD:9068941	20220318	RGD		protein:decreased expression:liver (human)	PMID:29445139|REF_RGD_ID:151665319
12088973	LOC102153034	calmodulin-like protein 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313562	D	RGD:9068941	20220318	RGD		associated with hepatocellular carcinoma; protein:decreased expression:liver (human)	PMID:29445139|REF_RGD_ID:151665319
12088973	LOC102153034	calmodulin-like protein 3	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1313562	D	RGD:9068941	20220318	RGD		associated with hepatocellular carcinoma; human cells in mouse model	PMID:29445139|REF_RGD_ID:151665319
12088973	LOC102153034	calmodulin-like protein 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313562	D	RGD:9068941	20211217	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12089015	DUSP23	dual specificity phosphatase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089015	DUSP23	dual specificity phosphatase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089015	DUSP23	dual specificity phosphatase 23	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:1324	lung cancer		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:14330	Parkinson's disease		ISO	RGD:1312599	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:18353766
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:1909	melanoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:3275	thymoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312599	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089020	LOC106558887	60S ribosomal protein L23a	gene	DOID:9256	colorectal cancer		ISO	RGD:1312599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:0110161	Charcot-Marie-Tooth disease type 2R		ISO	RGD:1322189	D	RGD:7240710	20210113	OMIM			
12089025	TRIM2	tripartite motif containing 2	gene	DOID:0110161	Charcot-Marie-Tooth disease type 2R		ISO	RGD:1322189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2R | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2R	PMID:16199547|PMID:17576681|PMID:23562820|PMID:25741868|PMID:25893792|PMID:26257172|PMID:28492532|PMID:9536098
12089025	TRIM2	tripartite motif containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:1322189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	
12089025	TRIM2	tripartite motif containing 2	gene	DOID:8398	osteoarthritis		ISO	RGD:1322189	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12089025	TRIM2	tripartite motif containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12089048	GLRB	glycine receptor beta	gene	DOID:0060695	hyperekplexia		ISO	RGD:731361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hyperekplexia	PMID:11929858|PMID:17576681|PMID:25741868|PMID:28492532|PMID:32911248|PMID:9536098
12089048	GLRB	glycine receptor beta	gene	DOID:0060697	hyperekplexia 2		ISO	RGD:731361	D	RGD:7240710	20180130	OMIM			
12089048	GLRB	glycine receptor beta	gene	DOID:0060697	hyperekplexia 2		ISO	RGD:731361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLRB-related condition | ClinVar Annotator: match by term: HYPEREKPLEXIA 2 | ClinVar Annotator: match by term: Hyperekplexia 2	PMID:16199547|PMID:17576681|PMID:22532536|PMID:23182654|PMID:23184146|PMID:25640679|PMID:25741868|PMID:28173650|PMID:28492532|PMID:35526563|PMID:35841715|PMID:9536098
12089048	GLRB	glycine receptor beta	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:731361	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12089048	GLRB	glycine receptor beta	gene	DOID:1826	epilepsy		ISO	RGD:731361	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12089048	GLRB	glycine receptor beta	gene	DOID:630	genetic disease		ISO	RGD:731361	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23184146|PMID:25741868|PMID:28492532
12089048	GLRB	glycine receptor beta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731361	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:450	myotonic disease		ISO	RGD:1552938	D	RGD:9068941	20220825	MouseDO			
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:5419	schizophrenia		ISO	RGD:1606580	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Brodmann (1909) area 46	PMID:17464717|REF_RGD_ID:10041058
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9008993	Myotonia		ISO	RGD:1606580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24039817
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089064	MBNL1	muscleblind like splicing regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12089106	CASP2	caspase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089106	CASP2	caspase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089106	CASP2	caspase 2	gene	DOID:0051061	stroke		ISO	RGD:69274	D	RGD:9068941	20200609	RGD			PMID:12067235|REF_RGD_ID:4107080
12089106	CASP2	caspase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12089106	CASP2	caspase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1604850	D	RGD:9068941	20200609	RGD			PMID:12633148|REF_RGD_ID:13782269
12089106	CASP2	caspase 2	gene	DOID:1115	sarcoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089106	CASP2	caspase 2	gene	DOID:1324	lung cancer		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089106	CASP2	caspase 2	gene	DOID:1824	status epilepticus	disease_progression	ISO	RGD:69274	D	RGD:9068941	20200609	RGD			PMID:17627033|REF_RGD_ID:4107076
12089106	CASP2	caspase 2	gene	DOID:3328	temporal lobe epilepsy	disease_progression	ISO	RGD:1604850	D	RGD:9068941	20200609	RGD			PMID:17627033|REF_RGD_ID:4107076
12089106	CASP2	caspase 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12089106	CASP2	caspase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089106	CASP2	caspase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1604850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208132
12089106	CASP2	caspase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12089106	CASP2	caspase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12089106	CASP2	caspase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089106	CASP2	caspase 2	gene	DOID:9003849	Autosomal Recessive Intellectual Developmental Disorder 80		ISO	RGD:1604850	D	RGD:7240710	20231220	OMIM			
12089106	CASP2	caspase 2	gene	DOID:9003849	Autosomal Recessive Intellectual Developmental Disorder 80		ISO	RGD:1604850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY	PMID:25741868
12089106	CASP2	caspase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089106	CASP2	caspase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089106	CASP2	caspase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12089162	GRAMD2B	GRAM domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089187	CEP89	centrosomal protein 89	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:10534	stomach cancer		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089187	CEP89	centrosomal protein 89	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089187	CEP89	centrosomal protein 89	gene	DOID:1115	sarcoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:1909	melanoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:4362	cervical cancer		ISO	RGD:1605924	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089187	CEP89	centrosomal protein 89	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12089187	CEP89	centrosomal protein 89	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12089187	CEP89	centrosomal protein 89	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12089187	CEP89	centrosomal protein 89	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089187	CEP89	centrosomal protein 89	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089187	CEP89	centrosomal protein 89	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089218	ROMO1	reactive oxygen species modulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089218	ROMO1	reactive oxygen species modulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12089218	ROMO1	reactive oxygen species modulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089218	ROMO1	reactive oxygen species modulator 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:1587111	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney	PMID:28791399|REF_RGD_ID:13463462
12089218	ROMO1	reactive oxygen species modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089225	NUDT21	nudix hydrolase 21	gene	DOID:1324	lung cancer		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089225	NUDT21	nudix hydrolase 21	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12089225	NUDT21	nudix hydrolase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089225	NUDT21	nudix hydrolase 21	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313996	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0080000	muscular disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081268	pulmonary venoocclusive disease 1		ISO	RGD:1322904	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary venoocclusive disease 1	PMID:24033266
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:7240710	20180130	OMIM			
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:0081269	pulmonary venoocclusive disease 2		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EIF2AK4-related condition | ClinVar Annotator: match by term: Familial pulmonary capillary hemangiomatosis | ClinVar Annotator: match by term: PULMONARY VENOOCCLUSIVE DISEASE 2 | ClinVar Annotator: match by term: Pulmonary venoocclusive disease 2	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25512148|PMID:25741868|PMID:27684876|PMID:28492532|PMID:28972005|PMID:29631995|PMID:29743074|PMID:30285736|PMID:30679663|PMID:31711431|PMID:32581362|PMID:36451176
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:2914	immune system disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1322904	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:421	hair disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322904	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:9068941	20200903	RGD		protein:decreased expression:lung	PMID:32209028|REF_RGD_ID:38549370
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5453	pulmonary venoocclusive disease	disease_progression	ISO	RGD:1311439	D	RGD:9068941	20200903	RGD			PMID:32209028|REF_RGD_ID:38549370
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1322904	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:24292273
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1322904	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:12215525|PMID:24135949|PMID:24292273|PMID:24310610|PMID:25741868|PMID:28492532|PMID:28972005|PMID:29743074|PMID:32581362
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089236	EIF2AK4	eukaryotic translation initiation factor 2 alpha kinase 4	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1322904	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239484
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:7240710	20190315	OMIM			
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:0051078	congenital anomalies of the kidney and urinary tract 3		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition	PMID:25741868|PMID:28381549|PMID:28492532
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1323522	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1323522	D	RGD:9068941	20200609	RGD		DNA:silent mutation, haplotype:p.G75G (human)	PMID:16530497|REF_RGD_ID:10045825
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1323522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22503866
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1323522	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:9004914	Postmenopausal Osteoporosis	susceptibility	ISO	RGD:1323522	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:p.G75G (human)	PMID:22335445|REF_RGD_ID:10045849
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27348297
12089291	NRIP1	nuclear receptor interacting protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22267197
12089312	CFAP44	cilia and flagella associated protein 44	gene	DOID:0070166	spermatogenic failure 20		ISO	RGD:1343890	D	RGD:7240710	20190315	OMIM			
12089351	CDC73	cell division cycle 73	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089351	CDC73	cell division cycle 73	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1323393	D	RGD:9068941	20211224	RGD		mRNA:altered expression: tongue, oral cavity (human)	PMID:24257751|REF_RGD_ID:150537040
12089351	CDC73	cell division cycle 73	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:1323393	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1	PMID:25741868
12089351	CDC73	cell division cycle 73	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:mucosa of stomach (human)	PMID:29221126|REF_RGD_ID:150539444
12089351	CDC73	cell division cycle 73	gene	DOID:1115	sarcoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089351	CDC73	cell division cycle 73	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:lung (human)	PMID:29221126|REF_RGD_ID:150539444
12089351	CDC73	cell division cycle 73	gene	DOID:13543	hyperparathyroidism		ISO	RGD:1614198	D	RGD:9068941	20260521	MouseDO		OMIM:145000 | OMIM:145001 | OMIM:610071	
12089351	CDC73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
12089351	CDC73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PARATHYROID CARCINOMA | ClinVar Annotator: match by term: PARATHYROID CARCINOMA, SOMATIC | ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17314275|PMID:17468190|PMID:17576681|PMID:18755853|PMID:19017757|PMID:19092296|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21652691|PMID:21732217|PMID:22187299|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23757631|PMID:24121387|PMID:24340015|PMID:24716902|PMID:24728327|PMID:24823466|PMID:25388829|PMID:25444225|PMID:25640679|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:26650250|PMID:27507909|PMID:28394026|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29142233|PMID:29225260|PMID:29324469|PMID:29641532|PMID:29755684|PMID:30452964|PMID:30885698|PMID:32590342|PMID:32761341|PMID:33150274|PMID:37339334|PMID:37449924|PMID:39044678|PMID:39677927|PMID:41497294|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:1540	parathyroid carcinoma	disease_progression	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		protein:decreased expression:parathyroid gland (human)	PMID:27490759|REF_RGD_ID:150539446
12089351	CDC73	cell division cycle 73	gene	DOID:1558	angioedema		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:12434154
12089351	CDC73	cell division cycle 73	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:breast (human)	PMID:29221126|REF_RGD_ID:150539444
12089351	CDC73	cell division cycle 73	gene	DOID:180	ossifying fibroma		ISO	RGD:1323393	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ossifying fibroma of the jaw	
12089351	CDC73	cell division cycle 73	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:ovary (human)	PMID:29221126|REF_RGD_ID:150539444
12089351	CDC73	cell division cycle 73	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		protein:decreased expression:larynx (human)	PMID:27334641|REF_RGD_ID:150539447
12089351	CDC73	cell division cycle 73	gene	DOID:3275	thymoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089351	CDC73	cell division cycle 73	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		protein:decreased expression:stomach (human)	PMID:18080135|REF_RGD_ID:150539445
12089351	CDC73	cell division cycle 73	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211224	RGD		mRNA:decreased expression:lung (human)	PMID:21692036|REF_RGD_ID:150537041
12089351	CDC73	cell division cycle 73	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12089351	CDC73	cell division cycle 73	gene	DOID:4362	cervical cancer		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089351	CDC73	cell division cycle 73	gene	DOID:5520	head and neck squamous cell carcinoma	exacerbates	ISO	RGD:1323393	D	RGD:9068941	20211224	RGD		protein:increased expression:squamous epithelium (human)	PMID:26124004|REF_RGD_ID:11065919
12089351	CDC73	cell division cycle 73	gene	DOID:576	proteinuria		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532
12089351	CDC73	cell division cycle 73	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089351	CDC73	cell division cycle 73	gene	DOID:7608	parathyroid adenoma		ISO	RGD:1323393	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parathyroid adenoma, somatic	PMID:12434154|PMID:15531515|PMID:16061557|PMID:16199547|PMID:25741868|PMID:28492532
12089351	CDC73	cell division cycle 73	gene	DOID:9002327	Hyperparathyroidism 2		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
12089351	CDC73	cell division cycle 73	gene	DOID:9002327	Hyperparathyroidism 2		ISO	RGD:1323393	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CYSTIC PARATHYROID ADENOMA, SOMATIC | ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME | ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors | ClinVar Annotator: match by term: Hyperparathyroidism-jaw tumor syndrome	PMID:12434154|PMID:14585940|PMID:15070940|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:18755853|PMID:20052758|PMID:20301744|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25637381|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28881068|PMID:29040582|PMID:29324469|PMID:29641532|PMID:30452964|PMID:32590342|PMID:39044678|PMID:41497294
12089351	CDC73	cell division cycle 73	gene	DOID:9004331	Parathyroid Neoplasms		ISO	RGD:1323393	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12089351	CDC73	cell division cycle 73	gene	DOID:9006675	Hyperparathyroidism 1		ISO	RGD:1323393	D	RGD:7240710	20190315	OMIM			
12089351	CDC73	cell division cycle 73	gene	DOID:9006675	Hyperparathyroidism 1		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPERPARATHYROIDISM 1 | ClinVar Annotator: match by term: HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY | ClinVar Annotator: match by term: Hyperparathyroidism 1	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:15580289|PMID:15632063|PMID:16061557|PMID:16199547|PMID:16817812|PMID:17468190|PMID:19017757|PMID:20052758|PMID:20979880|PMID:21360064|PMID:22987117|PMID:23029104|PMID:23293331|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29324469|PMID:29641532|PMID:36780067|PMID:39044678|PMID:41497294
12089351	CDC73	cell division cycle 73	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:12960210|PMID:14985403|PMID:17065424|PMID:19332451|PMID:20052758|PMID:25741868|PMID:28166811|PMID:28492532
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:12960210|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:16487440|PMID:16728578|PMID:17065424|PMID:17468190|PMID:17576681|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22187299|PMID:22703879|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:25959515|PMID:26121439|PMID:26580448|PMID:27679651|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:30262796|PMID:32590342|PMID:33332384|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:17576681|PMID:18436011|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22302605|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:32590342|PMID:39677927|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323393	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:12434154|PMID:14585940|PMID:14985403|PMID:15531515|PMID:16061557|PMID:16199547|PMID:17468190|PMID:17576681|PMID:18436011|PMID:19332451|PMID:20052758|PMID:20304979|PMID:20979880|PMID:21360064|PMID:21732217|PMID:22302605|PMID:22987117|PMID:23029104|PMID:23293331|PMID:23709761|PMID:24716902|PMID:24728327|PMID:25444225|PMID:25741868|PMID:26121439|PMID:28492532|PMID:28833384|PMID:28870973|PMID:28881068|PMID:29040582|PMID:29225260|PMID:29324469|PMID:29641532|PMID:32590342|PMID:39044678|PMID:39677927|PMID:41497294|PMID:9536098
12089351	CDC73	cell division cycle 73	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089351	CDC73	cell division cycle 73	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089351	CDC73	cell division cycle 73	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1323393	D	RGD:9068941	20211231	RGD		mRNA:increased expression:colorectum (human)	PMID:21315421|REF_RGD_ID:150539448
12089370	ACTN2	actinin alpha 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1317671	D	RGD:9068941	20260521	RGD		DNA:polymorphism: :	PMID:11078270|REF_RGD_ID:13506947
12089370	ACTN2	actinin alpha 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:14567970|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26498160|PMID:26899768|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:30165862|PMID:30847666|PMID:30959811|PMID:31506931|PMID:31983221|PMID:32492895|PMID:32746448|PMID:34935411|PMID:37461109|PMID:37477868|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089370	ACTN2	actinin alpha 2	gene	DOID:0060036	intrinsic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intrinsic cardiomyopathy | ClinVar Annotator: match by term: intrinsic cardiomyopathy	PMID:14567970|PMID:22767232|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28436997|PMID:28492532|PMID:28640247|PMID:31333075|PMID:32746448|PMID:32973354|PMID:33500567|PMID:34802252|PMID:34935411
12089370	ACTN2	actinin alpha 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	
12089370	ACTN2	actinin alpha 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, idiopathic dilated, mitochondrial | ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37477868|PMID:37904629|PMID:38296580|PMID:38311799|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:14567970|PMID:16199547|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33476543|PMID:33500567|PMID:34471957|PMID:34540771|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37937352|PMID:38311799|PMID:39068400|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:0081342	congenital myopathy 8		ISO	RGD:1317671	D	RGD:7240710	20200115	OMIM			
12089370	ACTN2	actinin alpha 2	gene	DOID:0081342	congenital myopathy 8		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 8 | ClinVar Annotator: match by term: MULTIPLE STRUCTURED CORE DISEASE | ClinVar Annotator: match by term: Myopathy, congenital, with structured cores and z-line abnormalities	PMID:14567970|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29915097|PMID:30701273|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:34935411|PMID:35026164|PMID:37477868|PMID:37834023|PMID:39068400
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:17097056|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27896284|PMID:28166811|PMID:28301460|PMID:28492532|PMID:28790153|PMID:28798025|PMID:29247119|PMID:30615648|PMID:30775854|PMID:31110529|PMID:31333075|PMID:31568572
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27854218|PMID:27896284|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32931854|PMID:35656879|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879|PMID:36005429|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32826072|PMID:32931854|PMID:34471957|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36005429|PMID:37477868|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:36005429|PMID:36252119|PMID:37477868|PMID:37904629|PMID:38296580|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37904629|PMID:38296580|PMID:38311799|PMID:38757491|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24503780|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29760345|PMID:29773157|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30086531|PMID:30165862|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32492895|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32931854|PMID:33057194|PMID:33500567|PMID:34471957|PMID:34598319|PMID:34935411|PMID:35026164|PMID:35063694|PMID:35656879|PMID:35975100|PMID:36005429|PMID:36252119|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37904629|PMID:38296580|PMID:38311799|PMID:38757491|PMID:39068400|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:16199547|PMID:17576681|PMID:20022194|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26688388|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28798025|PMID:28986455|PMID:29247119|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31983221|PMID:32931854|PMID:33500567|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:14567970|PMID:16199547|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25173926|PMID:25224718|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27896284|PMID:27930701|PMID:28492532|PMID:28640247|PMID:28986455|PMID:29247119|PMID:29875424|PMID:29915097|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31513939|PMID:31568572|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35026164|PMID:35656879|PMID:36252119|PMID:37477868|PMID:37834023|PMID:39068400|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1317671	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868
12089370	ACTN2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:7240710	20180130	OMIM			
12089370	ACTN2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25179549|PMID:25224718|PMID:25611685|PMID:25626705|PMID:25741868|PMID:26084686|PMID:26498160|PMID:26573135|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28123168|PMID:28301460|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28798025|PMID:28878402|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29875424|PMID:29892087|PMID:30086531|PMID:30615648|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32527005|PMID:32746448|PMID:32880476|PMID:32931854|PMID:33500567|PMID:34540771|PMID:34802252|PMID:35656879|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110428	dilated cardiomyopathy 1AA		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction | ClinVar Annotator: match by term: Dilated cardiomyopathy 1AA	PMID:14567970|PMID:16199547|PMID:17097056|PMID:17576681|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24082139|PMID:24274751|PMID:24503780|PMID:25173926|PMID:25224718|PMID:25640679|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27114410|PMID:27287556|PMID:27532257|PMID:27600370|PMID:27707468|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28087566|PMID:28123168|PMID:28436997|PMID:28492532|PMID:28640247|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29447731|PMID:29760345|PMID:29875424|PMID:29892087|PMID:29915097|PMID:29961767|PMID:30615648|PMID:30847666|PMID:31110529|PMID:31333075|PMID:31506931|PMID:31513939|PMID:31568572|PMID:31680489|PMID:31737537|PMID:31956495|PMID:31983221|PMID:32746448|PMID:32880476|PMID:32931854|PMID:32973354|PMID:33476543|PMID:33500567|PMID:34471957|PMID:34540771|PMID:34598319|PMID:34802252|PMID:34935411|PMID:35026164|PMID:35352813|PMID:35656879|PMID:36005429|PMID:36078153|PMID:36116040|PMID:36252119|PMID:37271035|PMID:37461109|PMID:37477868|PMID:37834023|PMID:37937352|PMID:38296580|PMID:38311799|PMID:39068400|PMID:39554508|PMID:9536098
12089370	ACTN2	actinin alpha 2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:20022194|PMID:23861362|PMID:24033266|PMID:25224718|PMID:25741868|PMID:27287556|PMID:27532257|PMID:28492532|PMID:28771489|PMID:30165862|PMID:31513939|PMID:31983221|PMID:32931854|PMID:35656879|PMID:39554508
12089370	ACTN2	actinin alpha 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:14567970|PMID:20022194|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25224718|PMID:25741868|PMID:26899768|PMID:27287556|PMID:27896284|PMID:28492532|PMID:32746448|PMID:32931854|PMID:34935411|PMID:35656879
12089370	ACTN2	actinin alpha 2	gene	DOID:1909	melanoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089370	ACTN2	actinin alpha 2	gene	DOID:219	colon cancer		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28640247
12089370	ACTN2	actinin alpha 2	gene	DOID:3529	congenital myopathy 1A		ISO	RGD:1317671	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Central core myopathy	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1317671	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:423	myopathy		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
12089370	ACTN2	actinin alpha 2	gene	DOID:440	neuromuscular disease		ISO	RGD:1317671	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disorder	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089370	ACTN2	actinin alpha 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1317671	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868|PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12089370	ACTN2	actinin alpha 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1317671	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:20022194|PMID:24033266|PMID:25741868|PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:767	muscular atrophy		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:893	Wilson disease		ISO	RGD:1317671	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:24082139|PMID:25326637|PMID:25741868|PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:28492532
12089370	ACTN2	actinin alpha 2	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1317671	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy with left ventricular noncompaction | ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532|PMID:29447731|PMID:31110529|PMID:31333075|PMID:31568572|PMID:33476543|PMID:33500567|PMID:34540771|PMID:39068400
12089370	ACTN2	actinin alpha 2	gene	DOID:9004033	Distal Myopathy 6		ISO	RGD:1317671	D	RGD:7240710	20191127	OMIM			
12089370	ACTN2	actinin alpha 2	gene	DOID:9004033	Distal Myopathy 6		ISO	RGD:1317671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, DISTAL, 6, ADULT-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Myopathy, distal, 6, adult-onset, autosomal dominant	PMID:14567970|PMID:20022194|PMID:20474083|PMID:23299917|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26688388|PMID:26899768|PMID:27532257|PMID:27896284|PMID:28492532|PMID:28771489|PMID:28790153|PMID:28986455|PMID:29247119|PMID:29386531|PMID:29915097|PMID:30847666|PMID:30900782|PMID:31110529|PMID:31333075|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:34935411|PMID:35026164|PMID:37477868|PMID:37834023|PMID:38311799|PMID:39068400
12089370	ACTN2	actinin alpha 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:38311799
12089370	ACTN2	actinin alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089370	ACTN2	actinin alpha 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089370	ACTN2	actinin alpha 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089370	ACTN2	actinin alpha 2	gene	DOID:9834	hyperopia		ISO	RGD:1317671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28640247
12089397	AIFM2	AIF family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089397	AIFM2	AIF family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089397	AIFM2	AIF family member 2	gene	DOID:1909	melanoma		ISO	RGD:1312709	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089397	AIFM2	AIF family member 2	gene	DOID:3275	thymoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089397	AIFM2	AIF family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12089397	AIFM2	AIF family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312709	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089397	AIFM2	AIF family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089397	AIFM2	AIF family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089397	AIFM2	AIF family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312709	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089434	PLD2	phospholipase D2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089434	PLD2	phospholipase D2	gene	DOID:10534	stomach cancer		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089434	PLD2	phospholipase D2	gene	DOID:1909	melanoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089434	PLD2	phospholipase D2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089434	PLD2	phospholipase D2	gene	DOID:3275	thymoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089434	PLD2	phospholipase D2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089434	PLD2	phospholipase D2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12089434	PLD2	phospholipase D2	gene	DOID:4362	cervical cancer		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089434	PLD2	phospholipase D2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733873	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:11185526|REF_RGD_ID:2299898
12089434	PLD2	phospholipase D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089434	PLD2	phospholipase D2	gene	DOID:6000	congestive heart failure		ISO	RGD:3350	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:15601581|REF_RGD_ID:2299908
12089434	PLD2	phospholipase D2	gene	DOID:6039	uveal melanoma		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12089434	PLD2	phospholipase D2	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:733873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25065577
12089434	PLD2	phospholipase D2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:733873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15988127
12089434	PLD2	phospholipase D2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3350	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brainstem, cerebellum	PMID:17024567|REF_RGD_ID:2299902
12089434	PLD2	phospholipase D2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3350	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus CA1, hippocampus granule cell layer	PMID:17393174|REF_RGD_ID:2299901
12089434	PLD2	phospholipase D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089434	PLD2	phospholipase D2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3350	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus	PMID:15330336|REF_RGD_ID:2299910
12089434	PLD2	phospholipase D2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3350	D	RGD:9068941	20200609	RGD		protein:altered activity:sarcolemma, sarcoplasmic reticulum, heart left ventricle	PMID:15752718|REF_RGD_ID:2299906
12089434	PLD2	phospholipase D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:1324	lung cancer		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1300038	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:25741868
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:1909	melanoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:3275	thymoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1300038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9006967	Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia		ISO	RGD:1300038	D	RGD:7240710	20190315	OMIM			
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9006967	Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia		ISO	RGD:1300038	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCA5-related condition | ClinVar Annotator: match by term: Gingival fibromatosis-hypertrichosis syndrome | ClinVar Annotator: match by term: gingival fibromatosis-hypertrichosis syndrome	PMID:25741868|PMID:28492532
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1300038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089460	ABCA5	ATP binding cassette subfamily A member 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1300038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089513	UNC5D	unc-5 netrin receptor D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089513	UNC5D	unc-5 netrin receptor D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089513	UNC5D	unc-5 netrin receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:1115	sarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:1324	lung cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:1909	melanoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:3275	thymoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089536	NCKIPSD	NCK interacting protein with SH3 domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089554	CMTM8	CKLF like MARVEL transmembrane domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089554	CMTM8	CKLF like MARVEL transmembrane domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1351246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089554	CMTM8	CKLF like MARVEL transmembrane domain containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12089562	ZNF217	zinc finger protein 217	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1318226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
12089562	ZNF217	zinc finger protein 217	gene	DOID:10534	stomach cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089562	ZNF217	zinc finger protein 217	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089562	ZNF217	zinc finger protein 217	gene	DOID:1909	melanoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089562	ZNF217	zinc finger protein 217	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089562	ZNF217	zinc finger protein 217	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089562	ZNF217	zinc finger protein 217	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:0050851	glomerulosclerosis	susceptibility	ISO	RGD:621665	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:26606876|REF_RGD_ID:13524570
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:10534	stomach cancer		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:17986358|REF_RGD_ID:2289116
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1798635
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:10763	hypertension		ISO	RGD:732361	D	RGD:9068941	20200609	RGD			PMID:14608379|REF_RGD_ID:13524579
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:1115	sarcoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:11206	opioid abuse		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:19664213|REF_RGD_ID:13524573
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:1324	lung cancer		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18347610
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:3070	high grade glioma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:365	bladder disease	treatment	ISO	RGD:621665	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:19689474|REF_RGD_ID:9684972
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:19003918|REF_RGD_ID:10449440
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:724	female stress incontinence		ISO	RGD:621665	D	RGD:9068941	20200609	RGD			PMID:18372098|REF_RGD_ID:13524574
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089570	RGS2	regulator of G protein signaling 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732360	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:0111884	Diamond-Blackfan anemia 9		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 9	PMID:25741868
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:1115	sarcoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:1909	melanoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1354110	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578367
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:3275	thymoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:9002173	osteogenesis imperfecta type 23		ISO	RGD:1354110	D	RGD:7240710	20240214	OMIM			
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:9002173	osteogenesis imperfecta type 23		ISO	RGD:1354110	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XXIII	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089579	PHLDB1	pleckstrin homology like domain family B member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:0111623	ACTH-independent macronodular adrenal hyperplasia 1		ISO	RGD:1315235	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:0111624	ACTH-independent macronodular adrenal hyperplasia 2		ISO	RGD:1315235	D	RGD:7240710	20180130	OMIM			
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:0111624	ACTH-independent macronodular adrenal hyperplasia 2		ISO	RGD:1315235	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2 | ClinVar Annotator: match by term: ACTH-independent macronodular adrenal hyperplasia 2 | ClinVar Annotator: match by term: ARMC5-related condition	PMID:24283224|PMID:24708098|PMID:25741868|PMID:26604299|PMID:27094308|PMID:28492532|PMID:32117062|PMID:35687106|PMID:36548967|PMID:36727580|PMID:38225631
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:1909	melanoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:630	genetic disease		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12089644	ARMC5	armadillo repeat containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089664	SAYSD1	SAYSVFN motif domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089664	SAYSD1	SAYSVFN motif domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:0070753	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		ISO	RGD:68529	D	RGD:7240710	20190315	OMIM			
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:0070753	neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER | ClinVar Annotator: match by term: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | ClinVar Annotator: match by term: RAB11B-related condition	PMID:25741868|PMID:28492532|PMID:29106825|PMID:36553572|PMID:37734130
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:68529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:68529	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29106825
12089684	RAB11B	RAB11B, member RAS oncogene family	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68529	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:29106825|PMID:37734130
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:0051005	congenital nonspherocytic hemolytic anemia 4		ISO	RGD:1344852	D	RGD:7240710	20180130	OMIM			
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:0051005	congenital nonspherocytic hemolytic anemia 4		ISO	RGD:1344852	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4 | ClinVar Annotator: match by term: GPI-related condition | ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	PMID:10916680|PMID:19064002|PMID:24033266|PMID:24166850|PMID:25741868|PMID:26509025|PMID:28492532|PMID:30585945|PMID:31133865|PMID:8499925|PMID:8822952|PMID:8822954|PMID:9266190|PMID:9616041
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:10534	stomach cancer		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:1059	intellectual disability		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		Severe GPI deficiency with neurologic deficits    DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)	PMID:9856489|REF_RGD_ID:1600632
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:1115	sarcoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1344852	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis	PMID:25741868
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:1324	lung cancer		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:1826	epilepsy		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizure	PMID:25741868
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:1909	melanoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:2355	anemia		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:10680	D	RGD:9068941	20200609	RGD			PMID:8417789|REF_RGD_ID:11051955
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:10680	D	RGD:9068941	20220825	MouseDO		OMIM:206300 | OMIM:206400 | OMIM:300908 | OMIM:613470	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:9446754|REF_RGD_ID:11051849
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		DNA:point_mutation:CDS:1648A>G amino acid K550E	PMID:17041899|REF_RGD_ID:1600633
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:10680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:440	neuromuscular disease		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		Severe GPI deficiency with neurologic deficits    DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)	PMID:9856489|REF_RGD_ID:1600632
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344852	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:583	hemolytic anemia		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:32581362
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:589	congenital hemolytic anemia		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		DNA:point_mutations:CDS:compound heterozygote for amino acids G158S and R346H	PMID:8499925|REF_RGD_ID:1600631
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:589	congenital hemolytic anemia		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD		Severe GPI deficiency with neurologic deficits    DNA:point_mutations:CDS:compound heterozygote for 59A>C (amino acid H20P), and 1016T>C (amino acid L339P)	PMID:9856489|REF_RGD_ID:1600632
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:6039	uveal melanoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:630	genetic disease		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10680	D	RGD:9068941	20200609	RGD			PMID:20978190|REF_RGD_ID:11051956
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD			PMID:23911657|REF_RGD_ID:11051957
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:10680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344852	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659439
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12089693	GPI	glucose-6-phosphate isomerase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1344852	D	RGD:9068941	20200609	RGD			PMID:6589021|REF_RGD_ID:11051848
12089715	TMEM154	transmembrane protein 154	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089715	TMEM154	transmembrane protein 154	gene	DOID:1324	lung cancer		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089715	TMEM154	transmembrane protein 154	gene	DOID:3070	high grade glioma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12089715	TMEM154	transmembrane protein 154	gene	DOID:3275	thymoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089715	TMEM154	transmembrane protein 154	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12089715	TMEM154	transmembrane protein 154	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12089715	TMEM154	transmembrane protein 154	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12089715	TMEM154	transmembrane protein 154	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089715	TMEM154	transmembrane protein 154	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12089733	TMEM200A	transmembrane protein 200A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089733	TMEM200A	transmembrane protein 200A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089733	TMEM200A	transmembrane protein 200A	gene	DOID:1115	sarcoma		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089733	TMEM200A	transmembrane protein 200A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:10283	prostate cancer		ISO	RGD:1315737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:10534	stomach cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:1115	sarcoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:1324	lung cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:1909	melanoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1315737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089740	DOCK5	dedicator of cytokinesis 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12089819	ZBTB9	zinc finger and BTB domain containing 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1354226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089819	ZBTB9	zinc finger and BTB domain containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:1324	lung cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:1909	melanoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:3275	thymoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731557	D	RGD:9068941	20220825	MouseDO			
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:4362	cervical cancer		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12089827	PSMC4	proteasome 26S subunit, ATPase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12089853	CLPSL2	colipase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605196	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12089858	MIR30B	microRNA mir-30b	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12089858	MIR30B	microRNA mir-30b	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12089858	MIR30B	microRNA mir-30b	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1349241	D	RGD:9068941	20220825	RGD		human cells in mouse model;RNA:increased expression:colon,exosome (human)	PMID:28211508|REF_RGD_ID:153344546
12089858	MIR30B	microRNA mir-30b	gene	DOID:4989	pancreatitis		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12089858	MIR30B	microRNA mir-30b	gene	DOID:5082	liver cirrhosis		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12089858	MIR30B	microRNA mir-30b	gene	DOID:6000	congestive heart failure		ISO	RGD:1349241	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12089858	MIR30B	microRNA mir-30b	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12089858	MIR30B	microRNA mir-30b	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2325392	D	RGD:9068941	20200609	RGD		RNA:decreased expression:heart left ventricle	PMID:23326547|REF_RGD_ID:11561904
12089858	MIR30B	microRNA mir-30b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1349241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12089858	MIR30B	microRNA mir-30b	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1349241	D	RGD:9068941	20200609	RGD			PMID:24293274|REF_RGD_ID:13432037
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:0070407	hypomyelinating leukodystrophy 21		ISO	RGD:1350025	D	RGD:7240710	20210526	OMIM			
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:0070407	hypomyelinating leukodystrophy 21		ISO	RGD:1350025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOMYELINATING LEUKODYSTROPHY 21 | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 21	PMID:25741868
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:0081238	acromesomelic dysplasia 4		ISO	RGD:1350025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 4	PMID:25741868
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:9000918	Disease Progression		ISO	RGD:1350025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12090001	POLR3K	RNA polymerase III subunit K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:19865100|PMID:24705251|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29763623|PMID:31348837
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:decreased expression:aganglionic colon:	PMID:8831584|REF_RGD_ID:12910727
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine smooth muscle"	PMID:9247236|REF_RGD_ID:12910747
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:11044	gastroschisis	severity	ISO	RGD:620568	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine:	PMID:15486901|REF_RGD_ID:12910745
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		urinary bladder small cell carcinoma; protein:increased expression:tumor:14/52 (27%) positive (>10% staining)	PMID:15502806|REF_RGD_ID:2292430
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:11162	respiratory failure		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:12309	urticaria pigmentosa		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS	PMID:11208730|PMID:11505412|PMID:15837988|PMID:23020152|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:32721511|PMID:32999426|PMID:36451132|PMID:9438854
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:12336	male infertility		ISO	RGD:620568	D	RGD:9068941	20200609	RGD			PMID:12932303|REF_RGD_ID:1600050
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:12449	aplastic anemia	severity	ISO	RGD:620568	D	RGD:9068941	20200609	RGD			PMID:7694680|REF_RGD_ID:12910751
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23020152|PMID:28492532|PMID:35101336
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1612	breast cancer		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:731382	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10224103|PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12697809|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16226710|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:29098070|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10362788|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:28492532|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10362788|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:16046538|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:21131919|PMID:21159146|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22932406|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28710566|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10224103|PMID:10362788|PMID:10485475|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:11984533|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:15897563|PMID:16046538|PMID:16226710|PMID:16327443|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17145623|PMID:17255767|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18724244|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:25832938|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:29434135|PMID:29923175|PMID:31497890|PMID:33212994|PMID:34338390|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10224103|PMID:10362788|PMID:10485475|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11505412|PMID:11526490|PMID:11984533|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:15897563|PMID:16046538|PMID:16226710|PMID:16327443|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16954519|PMID:17145623|PMID:17255767|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17699867|PMID:17824795|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18724244|PMID:18936790|PMID:18955458|PMID:18980976|PMID:19164557|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20147452|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21131919|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21969494|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22626674|PMID:22932406|PMID:23106360|PMID:23149070|PMID:23375402|PMID:23582185|PMID:23598963|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24531699|PMID:24661573|PMID:24755198|PMID:25157968|PMID:25741868|PMID:25832938|PMID:26619011|PMID:26822237|PMID:27771813|PMID:27981619|PMID:28492532|PMID:28506695|PMID:28710566|PMID:29098070|PMID:29434135|PMID:29923175|PMID:31497890|PMID:33212994|PMID:34338390|PMID:38538628|PMID:7513208|PMID:7530509|PMID:8589724|PMID:9438854|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15790786|PMID:17699867|PMID:18724244|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21689725|PMID:22614970|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:731382	D	RGD:9068941	20200609	RGD			PMID:9310959|REF_RGD_ID:12910725
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:1967	leiomyosarcoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		Uterine; protein:increased expression:tumor:10/14 tumors (71%)	PMID:17367465|REF_RGD_ID:2292170
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:731382	D	RGD:9068941	20200609	RGD			PMID:19010635|REF_RGD_ID:12910726
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2361	macrocytic anemia		ISO	RGD:731383	D	RGD:9068941	20220825	MouseDO			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532|PMID:31911633|PMID:32091409
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2841	asthma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2913	acute pancreatitis		ISO	RGD:620568	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:jejunum	PMID:23599644|REF_RGD_ID:12910752
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2998	testicular cancer		ISO	RGD:731382	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Testicular cancer	PMID:25741868|PMID:28492532|PMID:28724667|PMID:31350202
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:2999	granulosa cell tumor		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary	PMID:18028988|REF_RGD_ID:2302173
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3008	invasive ductal carcinoma	severity	ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:loss of expression associated with lymph node metastasis (p<0.0001) and reduced disease-free survival (p=0.0041)	PMID:16721362|REF_RGD_ID:2292426
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:731382	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3082	interstitial lung disease		ISO	RGD:731382	D	RGD:9068941	20200609	RGD			PMID:15887294|REF_RGD_ID:12910743
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3263	piebaldism		ISO	RGD:731382	D	RGD:7240710	20180130	OMIM			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3263	piebaldism		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PIEBALDISM | ClinVar Annotator: match by term: PIEBALDISM WITH SENSORINEURAL DEAFNESS | ClinVar Annotator: match by term: PIEBALDISM, PROGRESSIVE | ClinVar Annotator: match by term: Piebaldism | ClinVar Annotator: match by term: piebaldism	PMID:10554798|PMID:11074500|PMID:11380399|PMID:1370874|PMID:1376329|PMID:1384325|PMID:15194144|PMID:16081693|PMID:17065430|PMID:17124503|PMID:1717985|PMID:1720553|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:22670867|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24627108|PMID:25079768|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27258816|PMID:28492532|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29896733|PMID:30019023|PMID:31350202|PMID:32220041|PMID:33155701|PMID:34008892|PMID:36451132|PMID:7529964|PMID:7687267
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3304	germinoma		ISO	RGD:731382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Germinoma	PMID:11208730|PMID:11505412|PMID:11984533|PMID:15790786|PMID:15837988|PMID:16741525|PMID:16954519|PMID:17699867|PMID:18623623|PMID:18724244|PMID:18955458|PMID:19847891|PMID:19865100|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21689725|PMID:22614970|PMID:23803604|PMID:23840364|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25435369|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28506695|PMID:32721511|PMID:32999426|PMID:9438854
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:349	systemic mastocytosis		ISO	RGD:731382	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Mast cell disease, systemic	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:350	mastocytosis		ISO	RGD:731382	D	RGD:7240710	20180130	OMIM			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:350	mastocytosis		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis	PMID:10554798|PMID:11380399|PMID:16081693|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:23020152|PMID:23593539|PMID:24205792|PMID:25079768|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27258816|PMID:28492532|PMID:28724667|PMID:30019023|PMID:31350202|PMID:7529964
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3663	cutaneous mastocytosis		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutaneous mastocytosis | ClinVar Annotator: match by term: MASTOCYTOSIS, CUTANEOUS	PMID:10554798|PMID:11208730|PMID:11380399|PMID:11505412|PMID:15837988|PMID:16081693|PMID:17065430|PMID:17525721|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27258816|PMID:27391150|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29146883|PMID:29625052|PMID:30019023|PMID:31350202|PMID:32721511|PMID:32999426|PMID:36451132|PMID:7529964|PMID:9438854
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3665	diffuse cutaneous mastocytosis		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS	PMID:11208730|PMID:11505412|PMID:15837988|PMID:23020152|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:32721511|PMID:32999426|PMID:36451132|PMID:9438854
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma | ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:15790786|PMID:17699867|PMID:18724244|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21689725|PMID:22614970|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731382	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:24688052
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4226	endometrial stromal sarcoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in 6/8 (75%) of tumors	PMID:17367465|REF_RGD_ID:2292170
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4438	central nervous system germinoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system germinoma	PMID:16741525|PMID:23803604|PMID:24452629|PMID:24896186|PMID:25435369|PMID:27391150|PMID:27993330|PMID:32721511|PMID:32999426
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4440	seminoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		DNA:transversion:CDS:2467G>C, amino acid D816H	PMID:10362788|REF_RGD_ID:2292181
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4441	dysgerminoma		ISO	RGD:731382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSGERMINOMA	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		chromophobe RCC only;  mRNA:increased expression:tumor:positive in 6/7 chromophobe RCCs, but 0/15 clear cell RCCs and 1/15 papillary RCCs	PMID:15780567|REF_RGD_ID:2292414
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		papillary RCC only; DNA:mutation:intron:heterozygous T>A mutation in intron 17 found in 94% of cases, also protein found to be cytoplasmic not membrane-bound in 100% of cases	PMID:15073597|REF_RGD_ID:2292421
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:480	movement disease		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:731382	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5389	oxyphilic adenoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:positive in 7/8 renal oncocytomas	PMID:15780567|REF_RGD_ID:2292414
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15499612
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5419	schizophrenia		ISO	RGD:731382	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:15790786|PMID:17699867|PMID:18724244|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21689725|PMID:22614970|PMID:23020152|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:36451132
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:731383	D	RGD:9068941	20200609	RGD			PMID:12354381|REF_RGD_ID:12910746
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		Uterine Carcinosarcomas; protein:increased expression:tumor:10/12 tumors (83%)	PMID:17367465|REF_RGD_ID:2292170
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:7998	hyperthyroidism		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:8440	ileus	treatment	ISO	RGD:620568	D	RGD:9068941	20220421	RGD			PMID:30852906|REF_RGD_ID:151893492
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:850	lung disease		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21471107
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :multiple (human)	PMID:17768701|REF_RGD_ID:2302175
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		DNA:mutations:exon (human)	PMID:18006222|REF_RGD_ID:2302174
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9001581	Constipation		ISO	RGD:620568	D	RGD:9068941	20220505	RGD		mRNA, protein:decreased expression:colon	PMID:33792838|REF_RGD_ID:152025536
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9001733	Tinnitus		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9002566	Gastric Reperfusion Injury		ISO	RGD:620568	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:stomach:	PMID:20040059|REF_RGD_ID:12911222
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:731382	D	RGD:9068941	20200609	RGD		advanced serous ovarian carcinoma; protein:increased expression:tumor:expression correlated with disease progression after first-line chemotherapy (i.e. chemotherapy resistance), p=0.029	PMID:15033665|REF_RGD_ID:2292422
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:731383	D	RGD:9068941	20200609	RGD			PMID:25972476|REF_RGD_ID:12910744
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9003539	Hyperacusis		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:731382	D	RGD:7240710	20180130	OMIM			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis | ClinVar Annotator: match by term: Testicular germ cell tumor	PMID:15790786|PMID:17699867|PMID:18724244|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21689725|PMID:22614970|PMID:23020152|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:36451132
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9004240	Phyllodes Tumor	severity	ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significantly more malignant tumors positive for KIT (46%) vs benign (17%) or borderline (24%), p=0.001	PMID:15044924|REF_RGD_ID:2292419
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9004283	Transplant Rejection		ISO	RGD:620568	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:9862859|REF_RGD_ID:12910749
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:10385646|REF_RGD_ID:12910730
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22277784
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:620568	D	RGD:9068941	20200609	RGD		DNA:mutation (rat)	PMID:18445266|REF_RGD_ID:2302172
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620568	D	RGD:9068941	20221020	RGD		protein:increased expression:pancreas	PMID:17235568|REF_RGD_ID:2311225
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9006796	Gastrointestinal Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		Gastrointestinal Stromal Tumors	PMID:9697690|REF_RGD_ID:1600047
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007058	Primitive Peripheral Neuroectodermal Tumors		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15618851
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28166811|PMID:28492532|PMID:29146883|PMID:31775759|PMID:7529964
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10554798|PMID:11380399|PMID:16081693|PMID:16307017|PMID:17065430|PMID:18830255|PMID:19861435|PMID:20140688|PMID:20205869|PMID:20339585|PMID:22703879|PMID:23020152|PMID:23593539|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25637381|PMID:25741868|PMID:26158763|PMID:27023146|PMID:27214377|PMID:27258816|PMID:28492532|PMID:29146883|PMID:29625052|PMID:31775759|PMID:7529964
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10554798|PMID:10680913|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22703879|PMID:23020152|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:36451132|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17259998|PMID:17372901|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:35753512|PMID:36451132|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16731599|PMID:16908931|PMID:16912224|PMID:17001171|PMID:17065430|PMID:17145623|PMID:17255767|PMID:17259998|PMID:17372901|PMID:17504295|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25832938|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:35753512|PMID:36451132|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11276010|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15685537|PMID:15790786|PMID:15897563|PMID:15972446|PMID:16081693|PMID:16226710|PMID:16307017|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17145623|PMID:17255767|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18830255|PMID:18936790|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19262599|PMID:19671763|PMID:19812602|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:22083669|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24661573|PMID:24728327|PMID:25079768|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25832938|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:33212994|PMID:35753512|PMID:36451132|PMID:38538628|PMID:7479840|PMID:7529964|PMID:7530509|PMID:7691885|PMID:8589724|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11380399|PMID:11493470|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15897563|PMID:16081693|PMID:16226710|PMID:16352739|PMID:16460801|PMID:17001171|PMID:17065430|PMID:17145623|PMID:17255767|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18830255|PMID:19262599|PMID:19861435|PMID:19865100|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21569090|PMID:22083669|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23106360|PMID:23567324|PMID:23593539|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24728327|PMID:25079768|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25832938|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:33212994|PMID:35753512|PMID:36451132|PMID:38538628|PMID:7479840|PMID:7529964|PMID:7691885|PMID:8589724|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11208730|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11984533|PMID:12960119|PMID:14977822|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16081693|PMID:16226710|PMID:16327443|PMID:16352739|PMID:16460801|PMID:17001171|PMID:17065430|PMID:17145623|PMID:17255767|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18830255|PMID:19262599|PMID:19847891|PMID:19861435|PMID:19865100|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21569090|PMID:22083669|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23106360|PMID:23567324|PMID:23593539|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24728327|PMID:24847623|PMID:25079768|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25832938|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28074523|PMID:28314314|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32146645|PMID:33212994|PMID:35753512|PMID:36451132|PMID:38538628|PMID:7479840|PMID:7529964|PMID:7691885|PMID:8589724|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11208730|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11984533|PMID:12960119|PMID:14977822|PMID:15194144|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16081693|PMID:16226710|PMID:16327443|PMID:16352739|PMID:16460801|PMID:17001171|PMID:17065430|PMID:17145623|PMID:17255767|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17576681|PMID:17824795|PMID:17943734|PMID:18098338|PMID:18830255|PMID:19262599|PMID:19847891|PMID:19861435|PMID:19865100|PMID:20140688|PMID:20205869|PMID:20339585|PMID:21569090|PMID:22083669|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23106360|PMID:23567324|PMID:23593539|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24728327|PMID:24847623|PMID:25079768|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25832938|PMID:25886408|PMID:26158763|PMID:26822237|PMID:27023146|PMID:27258816|PMID:27263309|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28074523|PMID:28314314|PMID:28327988|PMID:28492532|PMID:28520972|PMID:28710566|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32146645|PMID:33155701|PMID:33212994|PMID:35753512|PMID:36451132|PMID:38538628|PMID:7479840|PMID:7529964|PMID:7691885|PMID:8589724|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11073817|PMID:11208730|PMID:11505412|PMID:15194144|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16460801|PMID:17001171|PMID:1717985|PMID:17372901|PMID:17525721|PMID:17699867|PMID:17824795|PMID:17943734|PMID:18830255|PMID:20140688|PMID:20205869|PMID:20890793|PMID:21262832|PMID:22626674|PMID:22703879|PMID:23020152|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24452629|PMID:24728327|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27023146|PMID:27263309|PMID:27391150|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31911633|PMID:32091409|PMID:32721511|PMID:32999426|PMID:33155701|PMID:34338390|PMID:35101336|PMID:36451132|PMID:7529964|PMID:8875953|PMID:9438854|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11073817|PMID:11208730|PMID:11505412|PMID:15194144|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16460801|PMID:17001171|PMID:1717985|PMID:17372901|PMID:17525721|PMID:17699867|PMID:17824795|PMID:17943734|PMID:18830255|PMID:20140688|PMID:20205869|PMID:20890793|PMID:21262832|PMID:22626674|PMID:23020152|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27023146|PMID:27263309|PMID:27391150|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31911633|PMID:32091409|PMID:32721511|PMID:32999426|PMID:33155701|PMID:34338390|PMID:35101336|PMID:36451132|PMID:7529964|PMID:8875953|PMID:9438854|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11073817|PMID:11208730|PMID:11505412|PMID:15194144|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16460801|PMID:17001171|PMID:1717985|PMID:17372901|PMID:17525721|PMID:17699867|PMID:17824795|PMID:17943734|PMID:18830255|PMID:20140688|PMID:20205869|PMID:20890793|PMID:21262832|PMID:22264755|PMID:22626674|PMID:23020152|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27023146|PMID:27263309|PMID:27391150|PMID:27535533|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31911633|PMID:32091409|PMID:32721511|PMID:32999426|PMID:33155701|PMID:34338390|PMID:35101336|PMID:36451132|PMID:7529964|PMID:8875953|PMID:9438854|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10554798|PMID:11073817|PMID:11208730|PMID:11380399|PMID:11505412|PMID:15194144|PMID:15737214|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16081693|PMID:16460801|PMID:17001171|PMID:17065430|PMID:1717985|PMID:17372901|PMID:17525721|PMID:17699867|PMID:17824795|PMID:17943734|PMID:18830255|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20890793|PMID:21262832|PMID:22626674|PMID:23020152|PMID:23593539|PMID:23598963|PMID:23648119|PMID:24205792|PMID:24452629|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25504284|PMID:25637381|PMID:25741868|PMID:25975190|PMID:27258816|PMID:27263309|PMID:27391150|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28492532|PMID:28724667|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:30019023|PMID:30280421|PMID:31350202|PMID:31911633|PMID:32091409|PMID:32721511|PMID:32999426|PMID:33155701|PMID:34338390|PMID:35101336|PMID:36451132|PMID:7529964|PMID:8875953|PMID:9438854|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007432	Latent Tuberculosis		ISO	RGD:731382	D	RGD:9068941	20210212	RGD		mRNA, protein:increased expression: peripheral blood mononuclear cell, CD4-positive, alpha-beta memory T cell (human	PMID:29602771|REF_RGD_ID:41404732
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9007736	Vertigo		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008023	Memory Disorders		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:620568	D	RGD:9068941	20250109	RGD		mRNA:increased expression:liver (rat)	PMID:24331700|REF_RGD_ID:596948405
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20941507
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:mean immunoreactive score = 5.90 in normal breast, 0.90 in malignant tissue (p=0.001)	PMID:14669790|REF_RGD_ID:2292423
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significantly increased vs fibroadenoma (p=0.035)	PMID:17848740|REF_RGD_ID:2292424
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:731382	D	RGD:9068941	20200609	RGD			PMID:21388062|REF_RGD_ID:12910741
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:731382	D	RGD:9068941	20200609	RGD		protein:expression:tumor:expression correlated with poor overall survival (p=0.051) and with high grade (p=0.019)	PMID:17867595|REF_RGD_ID:2292425
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731382	D	RGD:7240710	20180130	OMIM			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731382	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:19865100|PMID:25741868|PMID:28492532|PMID:28724667|PMID:31350202|PMID:7513208|PMID:8589724|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: LEUKEMIA, ACUTE MYELOID, SOMATIC | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:15790786|PMID:16605139|PMID:16873565|PMID:17699867|PMID:17976525|PMID:18724244|PMID:19865100|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21640708|PMID:21689725|PMID:22614970|PMID:23020152|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25637381|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:36451132|PMID:7513208|PMID:8589724|PMID:9657776
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: LEUKEMIA, ACUTE MYELOID, SOMATIC | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:15790786|PMID:16605139|PMID:16873565|PMID:17699867|PMID:17976525|PMID:18724244|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21640708|PMID:21689725|PMID:22614970|PMID:23020152|PMID:23840364|PMID:24452629|PMID:24896186|PMID:25741868|PMID:27391150|PMID:27993330|PMID:28492532|PMID:28506695|PMID:28724667|PMID:29146883|PMID:29625052|PMID:31350202|PMID:36451132
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		IAGP		D	RGD:12801476	20250604	OMIA		Gastrointestinal stromal tumour	PMID:20950418|PMID:26631948|PMID:36435800|PMID:36382620|PMID:36335646|PMID:40427321
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:7240710	20180130	OMIM			
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:10224103|PMID:10362788|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1384325|PMID:14645423|PMID:14695343|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18724244|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21854415|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27527414|PMID:27577211|PMID:27771813|PMID:27777718|PMID:27854218|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:29098070|PMID:29146883|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:31350202|PMID:31497890|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32220041|PMID:33212994|PMID:34338390|PMID:36315513|PMID:36451132|PMID:36669190|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:10224103|PMID:10362788|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1376329|PMID:1384325|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:17145623|PMID:1720553|PMID:17255767|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18724244|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20861712|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21854415|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24627108|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25832938|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27527414|PMID:27771813|PMID:27777718|PMID:27854218|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:31350202|PMID:31497890|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32220041|PMID:33212994|PMID:34338390|PMID:35753512|PMID:36315513|PMID:36451132|PMID:36669190|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:10224103|PMID:10362788|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11276010|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11526490|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1376329|PMID:1384325|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:15972446|PMID:16046538|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16307017|PMID:16327443|PMID:16352739|PMID:16384925|PMID:16460801|PMID:16638875|PMID:16731599|PMID:16741525|PMID:16751810|PMID:16908931|PMID:16912224|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:17145623|PMID:1720553|PMID:17255767|PMID:17259998|PMID:17363509|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18024392|PMID:18421059|PMID:18448188|PMID:18510589|PMID:18567837|PMID:18724244|PMID:18830255|PMID:18936790|PMID:18955458|PMID:18980976|PMID:18986703|PMID:19164557|PMID:19175693|PMID:19262599|PMID:19671763|PMID:19737976|PMID:19812602|PMID:19847891|PMID:19861435|PMID:19865100|PMID:19996579|PMID:20088873|PMID:20137753|PMID:20140688|PMID:20147452|PMID:20205869|PMID:20339585|PMID:20545949|PMID:20736294|PMID:20861712|PMID:20890793|PMID:21119596|PMID:21159146|PMID:21262832|PMID:21569090|PMID:21642685|PMID:21689725|PMID:21690468|PMID:21854415|PMID:22083669|PMID:22160160|PMID:22261812|PMID:22355224|PMID:22357254|PMID:22504184|PMID:22626674|PMID:22670867|PMID:22703879|PMID:22932406|PMID:23020152|PMID:23106360|PMID:23149070|PMID:23567324|PMID:23582185|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23714533|PMID:23775962|PMID:24045550|PMID:24205792|PMID:24531699|PMID:24565205|PMID:24582309|PMID:24627108|PMID:24661573|PMID:24687822|PMID:24728327|PMID:24755198|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25157968|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25832938|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26619011|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27527414|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:31350202|PMID:31497890|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32220041|PMID:33212994|PMID:34338390|PMID:35753512|PMID:36315513|PMID:36451132|PMID:36669190|PMID:7479840|PMID:7513208|PMID:7529964|PMID:7530509|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9657776|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, familial | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:10224103|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11380399|PMID:11493470|PMID:11505412|PMID:11984533|PMID:1279971|PMID:12878163|PMID:12960119|PMID:1370874|PMID:1376329|PMID:1384325|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15790786|PMID:15824741|PMID:15837988|PMID:15897563|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16327443|PMID:16352739|PMID:16460801|PMID:16751810|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:1720553|PMID:17259998|PMID:17372901|PMID:17489795|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18567837|PMID:18724244|PMID:18830255|PMID:19262599|PMID:19847891|PMID:19861435|PMID:19865100|PMID:20137753|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20861712|PMID:20890793|PMID:21119596|PMID:21262832|PMID:21569090|PMID:21689725|PMID:21854415|PMID:22083669|PMID:22626674|PMID:22670867|PMID:22703879|PMID:23020152|PMID:23106360|PMID:23567324|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:24205792|PMID:24565205|PMID:24582309|PMID:24627108|PMID:24728327|PMID:24847623|PMID:25079768|PMID:25139846|PMID:25176472|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25886408|PMID:25975190|PMID:26158763|PMID:26689913|PMID:26822237|PMID:27023146|PMID:27068398|PMID:27214377|PMID:27258816|PMID:27263309|PMID:27527414|PMID:27771813|PMID:27777718|PMID:27981619|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:29098070|PMID:29146883|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:31350202|PMID:31497890|PMID:31775759|PMID:31911633|PMID:32091409|PMID:32220041|PMID:33212994|PMID:34338390|PMID:35753512|PMID:36315513|PMID:36451132|PMID:36669190|PMID:38538628|PMID:7479840|PMID:7529964|PMID:7687267|PMID:7691885|PMID:7694728|PMID:8589724|PMID:8875953|PMID:9029028|PMID:9438854|PMID:9536098|PMID:9797363|PMID:9827716|PMID:9990072
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine	PMID:10224103|PMID:10485475|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11369651|PMID:11505412|PMID:11526490|PMID:11719439|PMID:11984533|PMID:12481435|PMID:12697809|PMID:1279971|PMID:12878163|PMID:12960119|PMID:14645423|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15737214|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16327443|PMID:16397263|PMID:16434489|PMID:16460801|PMID:16751810|PMID:16954519|PMID:17001171|PMID:17107413|PMID:17124503|PMID:17145623|PMID:1717985|PMID:1720553|PMID:17255767|PMID:17259998|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18098338|PMID:18567837|PMID:18623623|PMID:18724244|PMID:18830255|PMID:18955458|PMID:19847891|PMID:20137753|PMID:20140688|PMID:20205869|PMID:20861712|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21569090|PMID:21689725|PMID:21854415|PMID:21953054|PMID:22083669|PMID:22264755|PMID:22614970|PMID:22626674|PMID:22640790|PMID:23020152|PMID:23106360|PMID:23416972|PMID:23567324|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23840364|PMID:24205792|PMID:24452629|PMID:24565205|PMID:24582309|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25139846|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25832938|PMID:25886408|PMID:25910686|PMID:25975190|PMID:26956871|PMID:27023146|PMID:27068398|PMID:27391150|PMID:27527414|PMID:27535533|PMID:27577211|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28314314|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:28966033|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29898407|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:30896089|PMID:31350202|PMID:31497890|PMID:31911633|PMID:32091409|PMID:32146645|PMID:32220041|PMID:32721511|PMID:32994724|PMID:32999426|PMID:33212994|PMID:33258138|PMID:33739378|PMID:34117242|PMID:34338390|PMID:34553465|PMID:35101336|PMID:35753512|PMID:35821557|PMID:36315513|PMID:36451132|PMID:36614290|PMID:36669190|PMID:38538628|PMID:7529964|PMID:7687267|PMID:8875953|PMID:9438854|PMID:9536098|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, FAMILIAL | ClinVar Annotator: match by term: GASTROINTESTINAL STROMAL TUMOR, SOMATIC | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor of small intestine	PMID:10224103|PMID:10485475|PMID:10554798|PMID:10680913|PMID:11073817|PMID:11074500|PMID:11208730|PMID:11369651|PMID:11380399|PMID:11505412|PMID:11526490|PMID:11719439|PMID:11984533|PMID:12481435|PMID:12697809|PMID:1279971|PMID:12878163|PMID:12960119|PMID:14645423|PMID:14977822|PMID:15194144|PMID:15236194|PMID:15685537|PMID:15737214|PMID:15790786|PMID:15837988|PMID:15897563|PMID:16081693|PMID:16143141|PMID:16183119|PMID:16199547|PMID:16220461|PMID:16226710|PMID:16327443|PMID:16397263|PMID:16434489|PMID:16460801|PMID:16751810|PMID:16954519|PMID:17001171|PMID:17065430|PMID:17107413|PMID:17124503|PMID:17145623|PMID:1717985|PMID:1720553|PMID:17255767|PMID:17259998|PMID:17372901|PMID:17489795|PMID:17504295|PMID:17525721|PMID:17576681|PMID:17699867|PMID:17710669|PMID:17824795|PMID:17904548|PMID:17943734|PMID:18098338|PMID:18567837|PMID:18623623|PMID:18724244|PMID:18830255|PMID:18955458|PMID:19847891|PMID:20137753|PMID:20140688|PMID:20205869|PMID:20339585|PMID:20861712|PMID:20890793|PMID:21262832|PMID:21482694|PMID:21569090|PMID:21689725|PMID:21854415|PMID:21953054|PMID:22083669|PMID:22614970|PMID:22626674|PMID:22640790|PMID:23020152|PMID:23106360|PMID:23416972|PMID:23567324|PMID:23593539|PMID:23598963|PMID:23610110|PMID:23648119|PMID:23840364|PMID:24205792|PMID:24452629|PMID:24565205|PMID:24582309|PMID:24847623|PMID:24896186|PMID:25079768|PMID:25139846|PMID:25243845|PMID:25504284|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25832938|PMID:25886408|PMID:25910686|PMID:25975190|PMID:26956871|PMID:27068398|PMID:27258816|PMID:27391150|PMID:27527414|PMID:27577211|PMID:27771813|PMID:27981619|PMID:27993330|PMID:28074523|PMID:28314314|PMID:28327988|PMID:28492532|PMID:28506695|PMID:28520972|PMID:28710566|PMID:28724667|PMID:28915580|PMID:28966033|PMID:29098070|PMID:29146883|PMID:29434135|PMID:29439183|PMID:29625052|PMID:29641532|PMID:29896733|PMID:29898407|PMID:29923175|PMID:30019023|PMID:30280421|PMID:30374176|PMID:30792533|PMID:30896089|PMID:31350202|PMID:31497890|PMID:31911633|PMID:32091409|PMID:32146645|PMID:32220041|PMID:32721511|PMID:32994724|PMID:32999426|PMID:33212994|PMID:33258138|PMID:33739378|PMID:34117242|PMID:34338390|PMID:34553465|PMID:35101336|PMID:35753512|PMID:35821557|PMID:36315513|PMID:36451132|PMID:36614290|PMID:36669190|PMID:38538628|PMID:7529964|PMID:7687267|PMID:8875953|PMID:9438854|PMID:9536098|PMID:9797363
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9253	gastrointestinal stromal tumor	disease_progression	ISO	RGD:731382	D	RGD:9068941	20220421	RGD		DNA:SNP: :rs17084733 (human)	PMID:30983504|REF_RGD_ID:151709007
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:962	neurofibroma		ISO	RGD:731382	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin:	PMID:7692836|REF_RGD_ID:12910728
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9834	hyperopia		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12090012	KIT	KIT proto-oncogene, receptor tyrosine kinase	gene	DOID:9970	obesity		ISO	RGD:731382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MC4R-related disorder | ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12090048	CEP162	centrosomal protein 162	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:10534	stomach cancer		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090048	CEP162	centrosomal protein 162	gene	DOID:1115	sarcoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:3070	high grade glioma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12090048	CEP162	centrosomal protein 162	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:5041	esophageal cancer		ISO	RGD:1316522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090048	CEP162	centrosomal protein 162	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12090048	CEP162	centrosomal protein 162	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090048	CEP162	centrosomal protein 162	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090101	ATG5	autophagy related 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090101	ATG5	autophagy related 5	gene	DOID:0080259	autosomal recessive spinocerebellar ataxia 25		ISO	RGD:1353398	D	RGD:7240710	20190315	OMIM			
12090101	ATG5	autophagy related 5	gene	DOID:0080259	autosomal recessive spinocerebellar ataxia 25		ISO	RGD:1353398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 25	
12090101	ATG5	autophagy related 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1359580	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
12090101	ATG5	autophagy related 5	gene	DOID:10534	stomach cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090101	ATG5	autophagy related 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090101	ATG5	autophagy related 5	gene	DOID:2355	anemia		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12090101	ATG5	autophagy related 5	gene	DOID:326	ischemia		ISO	RGD:1359580	D	RGD:9068941	20200609	RGD			PMID:25435100|REF_RGD_ID:11561945
12090101	ATG5	autophagy related 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1556965	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:23851366|REF_RGD_ID:11561951
12090101	ATG5	autophagy related 5	gene	DOID:4362	cervical cancer		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090101	ATG5	autophagy related 5	gene	DOID:5082	liver cirrhosis		ISO	RGD:1353398	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33549628
12090101	ATG5	autophagy related 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090101	ATG5	autophagy related 5	gene	DOID:614	lymphopenia		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12090101	ATG5	autophagy related 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
12090101	ATG5	autophagy related 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1359580	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:25040536|REF_RGD_ID:11553820
12090101	ATG5	autophagy related 5	gene	DOID:9001981	Weight Loss		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12090101	ATG5	autophagy related 5	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1353398	D	RGD:9068941	20231102	CTD		CTD Direct Evidence: marker/mechanism	PMID:37506864
12090101	ATG5	autophagy related 5	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
12090101	ATG5	autophagy related 5	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1359580	D	RGD:9068941	20200609	RGD			PMID:24998254|REF_RGD_ID:11561938
12090101	ATG5	autophagy related 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22491424
12090101	ATG5	autophagy related 5	gene	DOID:9005749	Necrosis		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20578144
12090101	ATG5	autophagy related 5	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22491424
12090101	ATG5	autophagy related 5	gene	DOID:9008617	Lethargy		ISO	RGD:1353398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration	PMID:28492532|PMID:30319355
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0110016	Leber congenital amaurosis 2		ISO	RGD:1343485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: early onset retinal dystrophy	PMID:15024725
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1343485	D	RGD:7240710	20180130	OMIM			
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:10527670|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11709018|PMID:12623820|PMID:15024725|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20683928|PMID:21602930|PMID:22695961|PMID:23035049|PMID:23484092|PMID:23847139|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26626312|PMID:26957854|PMID:27422788|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29548835|PMID:29559409|PMID:30718709|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31704230|PMID:31816670|PMID:31964843|PMID:32165824|PMID:32483926|PMID:32531858|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:33970760|PMID:34008892|PMID:34048777|PMID:34426522|PMID:35836572|PMID:36084042|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:8944027|PMID:9536098|PMID:9888789
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0111011	cone-rod dystrophy 6		ISO	RGD:1343485	D	RGD:7240710	20180130	OMIM			
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:0111011	cone-rod dystrophy 6		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 6 | ClinVar Annotator: match by term: Cone-rod dystrophy 6 | ClinVar Annotator: match by term: Retinal cone dystrophy 2	PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11709018|PMID:12623820|PMID:15024725|PMID:15691574|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22695961|PMID:23035049|PMID:23563732|PMID:23661368|PMID:23734073|PMID:23847139|PMID:24265693|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26352687|PMID:26626312|PMID:27375279|PMID:27422788|PMID:27881908|PMID:28041643|PMID:28341476|PMID:28492532|PMID:28838317|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29559409|PMID:30718709|PMID:30820146|PMID:31429209|PMID:31589614|PMID:31630094|PMID:31704230|PMID:31816670|PMID:31964843|PMID:32141364|PMID:32165824|PMID:32255808|PMID:32483926|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33970760|PMID:34008892|PMID:34048777|PMID:34426522|PMID:35754085|PMID:35836572|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:37734845|PMID:38219857|PMID:38540785|PMID:38662103|PMID:9536098|PMID:9618177
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10951519|PMID:11328726|PMID:16199547|PMID:25741868|PMID:28492532
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1343485	D	RGD:9068941	20200609	RGD		DNA:mutation:exon	PMID:11565546|REF_RGD_ID:1599624
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:11162	respiratory failure		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:11830	myopia		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:12552567|PMID:16505055|PMID:17724218|PMID:17964524|PMID:20050595|PMID:20683928|PMID:23035049|PMID:24875811|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26298565|PMID:26626312|PMID:28041643|PMID:28492532|PMID:29061346|PMID:29559409|PMID:30718709|PMID:32165824|PMID:33546218|PMID:34008892|PMID:8944027|PMID:9683616
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:11709018|PMID:12325031|PMID:12552567|PMID:15024725|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:20050595|PMID:20683928|PMID:21153841|PMID:21602930|PMID:23035049|PMID:23847139|PMID:24875811|PMID:25097241|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:26806561|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31456290|PMID:31630094|PMID:31704230|PMID:32141364|PMID:32165824|PMID:32483926|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:33997691|PMID:34008892|PMID:34048777|PMID:34906470|PMID:35052368|PMID:36274938|PMID:36909829|PMID:37327959|PMID:37947821|PMID:8944027|PMID:9536098|PMID:9683616
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10676808|PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11565546|PMID:11709018|PMID:12325031|PMID:12552567|PMID:15024725|PMID:15175914|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:20050595|PMID:20683928|PMID:21153841|PMID:21602930|PMID:22183351|PMID:22194653|PMID:22968130|PMID:23035049|PMID:23847139|PMID:24480840|PMID:24875811|PMID:25097241|PMID:25283059|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:26806561|PMID:28041643|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068140|PMID:29068479|PMID:29178642|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31704230|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32141364|PMID:32165824|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32811265|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:33691693|PMID:33749171|PMID:33997691|PMID:34008892|PMID:34048777|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35052368|PMID:35119454|PMID:35836572|PMID:36274938|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37327959|PMID:37947821|PMID:8944027|PMID:9536098|PMID:9683616
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: RETINAL BLINDNESS, CONGENITAL | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:11709018|PMID:12325031|PMID:12552567|PMID:12623820|PMID:15024725|PMID:15111605|PMID:15175914|PMID:15691574|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18682808|PMID:18936139|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20683928|PMID:20981092|PMID:21153841|PMID:21602930|PMID:22183351|PMID:22194653|PMID:22968130|PMID:23035049|PMID:23424971|PMID:23847139|PMID:24033266|PMID:24480840|PMID:24616660|PMID:24875811|PMID:24997176|PMID:25097241|PMID:25283059|PMID:25477517|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26806561|PMID:27881908|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068140|PMID:29068479|PMID:29178642|PMID:29548835|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31704230|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32141364|PMID:32165824|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32811265|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:33691693|PMID:33749171|PMID:33997691|PMID:34008892|PMID:34048777|PMID:34426522|PMID:34758253|PMID:34906470|PMID:35052368|PMID:35119454|PMID:35836572|PMID:36274938|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37327959|PMID:37947821|PMID:8944027|PMID:9536098|PMID:9683616|PMID:9888789
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10676808|PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11565546|PMID:11709018|PMID:12325031|PMID:12365911|PMID:12552567|PMID:12623820|PMID:15024725|PMID:15111605|PMID:15123990|PMID:15175914|PMID:15691574|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18682808|PMID:18936139|PMID:19959640|PMID:20050595|PMID:20079931|PMID:20683928|PMID:20981092|PMID:21153841|PMID:21602930|PMID:22183351|PMID:22194653|PMID:22968130|PMID:23035049|PMID:23424971|PMID:23847139|PMID:24033266|PMID:24480840|PMID:24616660|PMID:24875811|PMID:24997176|PMID:25097241|PMID:25283059|PMID:25477517|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26352687|PMID:26626312|PMID:26806561|PMID:27208204|PMID:27881908|PMID:27884173|PMID:28041643|PMID:28181551|PMID:28224992|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068140|PMID:29068479|PMID:29178642|PMID:29548835|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31704230|PMID:31816670|PMID:31964843|PMID:32036094|PMID:32141364|PMID:32165824|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32811265|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33546218|PMID:33691693|PMID:33749171|PMID:33997691|PMID:34008892|PMID:34048777|PMID:34426522|PMID:34662339|PMID:34758253|PMID:34906470|PMID:35052368|PMID:35119454|PMID:35836572|PMID:36274938|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37327959|PMID:37947821|PMID:8944027|PMID:9536098|PMID:9683616|PMID:9888789
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital | ClinVar Annotator: match by term: leber congenital amaurosis	PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11709018|PMID:12623820|PMID:15024725|PMID:15691574|PMID:16199547|PMID:16205573|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19959640|PMID:20050595|PMID:20079931|PMID:21602930|PMID:22695961|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26626312|PMID:27475985|PMID:28492532|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:33997691|PMID:34008892|PMID:34048777|PMID:34426522|PMID:34662339|PMID:35052368|PMID:35836572|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36909829|PMID:37327959|PMID:37947821|PMID:39728598
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:1596	depressive disorder		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:1826	epilepsy		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:2030	anxiety disorder		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:2841	asthma		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:480	movement disease		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:5679	retinal disease		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10951519|PMID:11115851|PMID:11565546|PMID:12552567|PMID:15175914|PMID:17724218|PMID:19959640|PMID:22183351|PMID:24875811|PMID:25741868|PMID:26298565|PMID:26352687|PMID:26747767|PMID:26957898|PMID:27422788|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29555955|PMID:29559409|PMID:30588428|PMID:30653986|PMID:31429209|PMID:31456290|PMID:31630094|PMID:31816670|PMID:32531858|PMID:32811265|PMID:32821499|PMID:33109612|PMID:33369172|PMID:33749171|PMID:34048777|PMID:34758253|PMID:35119454|PMID:35260635|PMID:36284460|PMID:36460718|PMID:36819107|PMID:8554074|PMID:9618177
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:5723	optic atrophy		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:630	genetic disease		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10951519|PMID:11328726|PMID:15024725|PMID:16199547|PMID:28492532
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:8501	fundus dystrophy		ISO	RGD:1343485	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10766140|PMID:10951519|PMID:11035546|PMID:11115851|PMID:11328726|PMID:11709018|PMID:12365911|PMID:15024725|PMID:1512399|PMID:15123990|PMID:15175914|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18936139|PMID:19959640|PMID:20050595|PMID:21602930|PMID:22261762|PMID:22695961|PMID:23035049|PMID:24516651|PMID:24997176|PMID:25189253|PMID:25477517|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26253563|PMID:26298565|PMID:26626312|PMID:26806561|PMID:27208204|PMID:28492532|PMID:28966547|PMID:29061346|PMID:29068479|PMID:29178642|PMID:29555955|PMID:29559409|PMID:30319355|PMID:30718709|PMID:31144483|PMID:31429209|PMID:31589614|PMID:31736247|PMID:31816670|PMID:31964843|PMID:32141364|PMID:32165824|PMID:32821499|PMID:32865313|PMID:33109612|PMID:34008892|PMID:34048777|PMID:34426522|PMID:34662339|PMID:35260635|PMID:35836572|PMID:36274938|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:37327959|PMID:38091967|PMID:9618177
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9001733	Tinnitus		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9004519	Congenital Stationary Night Blindness 1I		ISO	RGD:1343485	D	RGD:7240710	20190911	OMIM			
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9004519	Congenital Stationary Night Blindness 1I		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1I	PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11709018|PMID:15024725|PMID:16199547|PMID:16505055|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:20050595|PMID:22695961|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30718709|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32483926|PMID:32865313|PMID:33109612|PMID:34008892|PMID:34048777|PMID:34426522|PMID:35836572|PMID:36369640|PMID:36460718
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9005850	Hereditary Optic Atrophies		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive optic atrophy	PMID:25741868
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9007736	Vertigo		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10951519|PMID:11328726|PMID:23035049|PMID:25741868|PMID:28492532|PMID:29178642
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:25741868|PMID:28492532
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:980	choroidal sclerosis		ISO	RGD:1343485	D	RGD:7240710	20190315	OMIM			
12090138	GUCY2D	guanylate cyclase 2D, retinal	gene	DOID:980	choroidal sclerosis		ISO	RGD:1343485	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Choroidal dystrophy, central areolar, 1 | ClinVar Annotator: match by term: Choroidal sclerosis	PMID:10766140|PMID:10951519|PMID:11115851|PMID:11328726|PMID:11709018|PMID:15024725|PMID:16199547|PMID:16505055|PMID:17724218|PMID:18055816|PMID:18682808|PMID:20050595|PMID:22695961|PMID:23035049|PMID:25477517|PMID:25741868|PMID:26253563|PMID:26626312|PMID:28492532|PMID:29061346|PMID:29178642|PMID:29559409|PMID:30718709|PMID:31429209|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32483926|PMID:32865313|PMID:33109612|PMID:34008892|PMID:34048777|PMID:34426522|PMID:35836572|PMID:36369640|PMID:36460718|PMID:36819107
12090160	KCTD20	potassium channel tetramerization domain containing 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090160	KCTD20	potassium channel tetramerization domain containing 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090160	KCTD20	potassium channel tetramerization domain containing 20	gene	DOID:3275	thymoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090160	KCTD20	potassium channel tetramerization domain containing 20	gene	DOID:4362	cervical cancer		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090160	KCTD20	potassium channel tetramerization domain containing 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:0112332	pontocerebellar hypoplasia type 13		ISO	RGD:1351540	D	RGD:7240710	20191030	OMIM			
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:0112332	pontocerebellar hypoplasia type 13		ISO	RGD:1351540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 13 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 13 | ClinVar Annotator: match by term: VPS51-related condition	PMID:25741868|PMID:30624672|PMID:31207318
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:10534	stomach cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:1324	lung cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:1826	epilepsy		ISO	RGD:1351540	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:1909	melanoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:3275	thymoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:4362	cervical cancer		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:5041	esophageal cancer		ISO	RGD:1351540	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12090180	VPS51	VPS51 subunit of GARP complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090194	ZNF304	zinc finger protein 304	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090194	ZNF304	zinc finger protein 304	gene	DOID:10283	prostate cancer		ISO	RGD:1352206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12090194	ZNF304	zinc finger protein 304	gene	DOID:10283	prostate cancer		ISO	RGD:1352206	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12090194	ZNF304	zinc finger protein 304	gene	DOID:1115	sarcoma		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090194	ZNF304	zinc finger protein 304	gene	DOID:1324	lung cancer		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090194	ZNF304	zinc finger protein 304	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090194	ZNF304	zinc finger protein 304	gene	DOID:4362	cervical cancer		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090194	ZNF304	zinc finger protein 304	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090194	ZNF304	zinc finger protein 304	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090194	ZNF304	zinc finger protein 304	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:7240710	20200226	OMIM			
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:0080975	intracranial berry aneurysm 12		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aneurysm, intracranial berry, 12 | ClinVar Annotator: match by term: THSD1-related condition	PMID:25741868
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1315930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:27895300
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:8725	vascular dementia		ISO	RGD:1315930	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:7240710	20230215	OMIM			
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:9008230	Lymphatic Malformation 13		ISO	RGD:1315930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 13 | ClinVar Annotator: match by term: Lymphatic malformation 13	PMID:25741868|PMID:26036949|PMID:33569873
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:25741868|PMID:26036949
12090201	THSD1	thrombospondin type 1 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:1324	lung cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:3275	thymoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1351757	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1351757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090212	HERC3	HECT and RLD domain containing E3 ubiquitin protein ligase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090255	ECI2	enoyl-CoA delta isomerase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:1115	sarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:1324	lung cancer		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:1909	melanoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313018	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090269	ADAMTSL3	ADAMTS like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:11438011|PMID:16199547|PMID:22444671|PMID:25741868|PMID:28492532
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:0070433	hyperphosphatasia with impaired intellectual development syndrome 1		ISO	RGD:1342664	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hyperphosphatasia with intellectual disability syndrome 1	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:0112152	CHIME syndrome		ISO	RGD:1342664	D	RGD:7240710	20180130	OMIM			
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:0112152	CHIME syndrome		ISO	RGD:1342664	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHIME syndrome | ClinVar Annotator: match by term: COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME | ClinVar Annotator: match by term: PIGL-related condition | ClinVar Annotator: match by term: Zunich neuroectodermal syndrome	PMID:11438011|PMID:16199547|PMID:18414213|PMID:22444671|PMID:25741868|PMID:28492532|PMID:30023290
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:11830	myopia		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:1826	epilepsy		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:630	genetic disease		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:674	cleft palate		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:8488	polyhydramnios		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:9003133	Hypertelorism		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	
12090312	PIGL	phosphatidylinositol glycan anchor biosynthesis class L	gene	DOID:9003507	Premature Birth		ISO	RGD:1342664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:0051062	ischemic stroke		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:0060885	renal hypomagnesemia 2		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal magnesium wasting	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:0070297	primary microcephaly		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:0080016	spina bifida		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090330	GNB2	G protein subunit beta 2	gene	DOID:11111	hydronephrosis		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:11486	Horner's syndrome		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Horner syndrome	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:11836	clubfoot		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:12215	oligohydramnios		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:12849	autistic disorder		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:1555	urticaria		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:1682	congenital heart disease		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:1909	melanoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Melanoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:2846	bruxism		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090330	GNB2	G protein subunit beta 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733685	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090330	GNB2	G protein subunit beta 2	gene	DOID:535	sleep disorder		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12090330	GNB2	G protein subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090330	GNB2	G protein subunit beta 2	gene	DOID:583	hemolytic anemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:733685	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12090330	GNB2	G protein subunit beta 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:9001288	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:733685	D	RGD:7240710	20211027	OMIM			
12090330	GNB2	G protein subunit beta 2	gene	DOID:9001288	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:733685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and dysmorphic facies	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:9002070	Sick Sinus Syndrome 4		ISO	RGD:733685	D	RGD:7240710	20210818	OMIM			
12090330	GNB2	G protein subunit beta 2	gene	DOID:9002070	Sick Sinus Syndrome 4		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome 4	
12090330	GNB2	G protein subunit beta 2	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive spastic paraparesis	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12090330	GNB2	G protein subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090330	GNB2	G protein subunit beta 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31698099|PMID:33971351|PMID:34183358
12090330	GNB2	G protein subunit beta 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090351	SYAP1	synapse associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090351	SYAP1	synapse associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090351	SYAP1	synapse associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090351	SYAP1	synapse associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090351	SYAP1	synapse associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090351	SYAP1	synapse associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090351	SYAP1	synapse associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090364	MGAT3	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1343088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090364	MGAT3	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090364	MGAT3	beta-1,4-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090379	FBN2	fibrillin 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:733429	D	RGD:9068941	20220825	MouseDO		OMIM:108120 | OMIM:108145 | OMIM:108200 | OMIM:114300 | OMIM:121050 | OMIM:121070 | OMIM:158300 | OMIM:178110 | OMIM:187370 | OMIM:193700 | OMIM:601680 | OMIM:609128 | OMIM:614335 | OMIM:615065	
12090379	FBN2	fibrillin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733428	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12090379	FBN2	fibrillin 2	gene	DOID:0060249	scoliosis		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12090379	FBN2	fibrillin 2	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:733428	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B	PMID:25326637|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:733428	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, limb-girdle, type 3	PMID:16199547|PMID:25326637|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:733428	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE	PMID:25326637|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:733428	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1	PMID:25326637|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:0111595	congenital contractural arachnodactyly		ISO	RGD:733428	D	RGD:7240710	20180130	OMIM			
12090379	FBN2	fibrillin 2	gene	DOID:0111595	congenital contractural arachnodactyly		ISO	RGD:733428	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28166811|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29907982|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32534992|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35419902|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9714438|PMID:9737771
12090379	FBN2	fibrillin 2	gene	DOID:0111595	congenital contractural arachnodactyly		ISO	RGD:733428	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis	PMID:10797416|PMID:11285249|PMID:11470817|PMID:11754102|PMID:15121784|PMID:16199547|PMID:16531736|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:20799338|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25326635|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27196565|PMID:28383543|PMID:28492532|PMID:28831199|PMID:29501612|PMID:29742989|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30029678|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32702406|PMID:33340101|PMID:33435129|PMID:33571691|PMID:33638605|PMID:33895855|PMID:34008892|PMID:34355836|PMID:3495735|PMID:35360850|PMID:35419902|PMID:4750422|PMID:7493032|PMID:7633409|PMID:8653794|PMID:8900230|PMID:9106527|PMID:9199560|PMID:9536098|PMID:9605585|PMID:9714438|PMID:9737771
12090379	FBN2	fibrillin 2	gene	DOID:0111595	congenital contractural arachnodactyly		ISO	RGD:733428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: CONTRACTURAL ARACHNODACTYLY, CONGENITAL | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractural arachnodactyly, congenital	PMID:10612827|PMID:10797416|PMID:11285249|PMID:11470817|PMID:11536364|PMID:11754102|PMID:12511552|PMID:15121784|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26854089|PMID:26934577|PMID:27196565|PMID:28087566|PMID:28492532|PMID:28831199|PMID:29386531|PMID:29501612|PMID:29650765|PMID:29742989|PMID:29907982|PMID:30029678|PMID:30675029|PMID:31316167|PMID:31506931|PMID:32123317|PMID:32277046|PMID:32381728|PMID:32518143|PMID:33029862|PMID:33060286|PMID:33190788|PMID:33243733|PMID:33340101|PMID:33571691|PMID:33638605|PMID:34008892|PMID:34355836|PMID:3495735|PMID:35079579|PMID:35360850|PMID:35419902|PMID:35753512|PMID:35830949|PMID:35982159|PMID:36360262|PMID:36653407|PMID:37116669|PMID:37342443|PMID:40406865|PMID:40709559|PMID:4750422|PMID:6465201|PMID:7493032|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9106527|PMID:9536098|PMID:9605585|PMID:9714438
12090379	FBN2	fibrillin 2	gene	DOID:0111595	congenital contractural arachnodactyly		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: CONTRACTURAL ARACHNODACTYLY, CONGENITAL | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractural arachnodactyly, congenital	PMID:10612827|PMID:10797416|PMID:11285249|PMID:11470817|PMID:11536364|PMID:11754102|PMID:12511552|PMID:15121784|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:23148498|PMID:23665959|PMID:24033266|PMID:24585410|PMID:24833718|PMID:24899048|PMID:25046119|PMID:25640679|PMID:25741868|PMID:25944730|PMID:26934577|PMID:27196565|PMID:28087566|PMID:28492532|PMID:28831199|PMID:29386531|PMID:29501612|PMID:29650765|PMID:29742989|PMID:29907982|PMID:30029678|PMID:30675029|PMID:31316167|PMID:31506931|PMID:31785789|PMID:32123317|PMID:32277046|PMID:32381728|PMID:32518143|PMID:33029862|PMID:33057194|PMID:33190788|PMID:33243733|PMID:33340101|PMID:33571691|PMID:33638605|PMID:34008892|PMID:34355836|PMID:3495735|PMID:35079579|PMID:35360850|PMID:35419902|PMID:35753512|PMID:35830949|PMID:35982159|PMID:36360262|PMID:36653407|PMID:37116669|PMID:37342443|PMID:40406865|PMID:40709559|PMID:4750422|PMID:6465201|PMID:7493032|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9106527|PMID:9536098|PMID:9605585|PMID:9714438
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome	PMID:11754102|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:28166811|PMID:28492532|PMID:29926239|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32461654|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32461654|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome | ClinVar Annotator: match by term: MYH8-related condition	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32461654|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32461654|PMID:33029862|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:35583931|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:35583931|PMID:4750422|PMID:8653794|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35583931|PMID:4750422|PMID:7606779|PMID:8653794|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:22325249|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:33571691|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35583931|PMID:35830949|PMID:4750422|PMID:7606779|PMID:8653794|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:0111603	distal arthrogryposis type 7		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome	PMID:11536364|PMID:11754102|PMID:12511552|PMID:15121784|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:20301560|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25741868|PMID:25944730|PMID:28492532|PMID:28831199|PMID:29386531|PMID:29650765|PMID:29742989|PMID:30675029|PMID:31316167|PMID:31506931|PMID:31785789|PMID:32381728|PMID:33029862|PMID:33057194|PMID:33190788|PMID:33571691|PMID:34008892|PMID:34355836|PMID:3495735|PMID:35079579|PMID:35830949|PMID:37342443|PMID:4750422|PMID:7606779|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:10283	prostate cancer		ISO	RGD:733428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12090379	FBN2	fibrillin 2	gene	DOID:10283	prostate cancer		ISO	RGD:733428	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12090379	FBN2	fibrillin 2	gene	DOID:10534	stomach cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090379	FBN2	fibrillin 2	gene	DOID:1059	intellectual disability		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090379	FBN2	fibrillin 2	gene	DOID:1115	sarcoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:11155	hypohidrosis		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:11193	syndactyly		ISO	RGD:733429	D	RGD:9068941	20200609	RGD			PMID:11285249|REF_RGD_ID:1300320
12090379	FBN2	fibrillin 2	gene	DOID:11383	cryptorchidism		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1143	exotropia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:11830	myopia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:11836	clubfoot		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	
12090379	FBN2	fibrillin 2	gene	DOID:12849	autistic disorder		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1324	lung cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090379	FBN2	fibrillin 2	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:23148498|PMID:24033266|PMID:24833718|PMID:25741868|PMID:26934577|PMID:28492532|PMID:28831199|PMID:31785789|PMID:32518143|PMID:33057194
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:27854218|PMID:28166811|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28831199|PMID:29907982|PMID:29910053|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32461654|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32461654|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32461654|PMID:33029862|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:34008892|PMID:3495735|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:34008892|PMID:3495735|PMID:35583931|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:34008892|PMID:3495735|PMID:35583931|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25326637|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35583931|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11536364|PMID:11754102|PMID:12511552|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:19006240|PMID:22325249|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24833718|PMID:24899048|PMID:25525159|PMID:25741868|PMID:25944730|PMID:26038974|PMID:26133393|PMID:26257771|PMID:27625873|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:29926239|PMID:30675029|PMID:31096651|PMID:31316167|PMID:31506931|PMID:32277046|PMID:32381728|PMID:32461654|PMID:33029862|PMID:33190788|PMID:33435129|PMID:34008892|PMID:3495735|PMID:35360850|PMID:35583931|PMID:35830949|PMID:4750422|PMID:7606779|PMID:8653794|PMID:8900230|PMID:9054436|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11754102|PMID:16199547|PMID:16677079|PMID:16835936|PMID:17345643|PMID:17576681|PMID:17935258|PMID:18414213|PMID:18767143|PMID:23148498|PMID:24033266|PMID:24833718|PMID:24899048|PMID:25741868|PMID:25944730|PMID:26934577|PMID:28492532|PMID:28831199|PMID:29650765|PMID:29907982|PMID:30675029|PMID:32381728|PMID:32518143|PMID:33029862|PMID:33190788|PMID:34008892|PMID:3495735|PMID:35830949|PMID:4750422|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:733428	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:16677079|PMID:18767143|PMID:25741868|PMID:28492532|PMID:29501612|PMID:3495735|PMID:4750422
12090379	FBN2	fibrillin 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:1596	depressive disorder		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:30311386
12090379	FBN2	fibrillin 2	gene	DOID:1826	epilepsy		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1891	optic nerve disease		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:1909	melanoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090379	FBN2	fibrillin 2	gene	DOID:1924	hypogonadism		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:2030	anxiety disorder		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:219	colon cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:2841	asthma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:3275	thymoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:4188	echolalia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	
12090379	FBN2	fibrillin 2	gene	DOID:4362	cervical cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090379	FBN2	fibrillin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:480	movement disease		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090379	FBN2	fibrillin 2	gene	DOID:520	aortic disease		ISO	RGD:733428	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	
12090379	FBN2	fibrillin 2	gene	DOID:540	strabismus		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:30311386
12090379	FBN2	fibrillin 2	gene	DOID:543	dystonia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:630	genetic disease		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:65	connective tissue disease		ISO	RGD:733428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:16835936|PMID:17345643|PMID:17935258|PMID:18414213|PMID:23148498|PMID:24033266|PMID:24833718|PMID:25741868|PMID:25944730|PMID:28087566|PMID:28492532|PMID:31316167|PMID:32381728
12090379	FBN2	fibrillin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:8488	polyhydramnios		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9000363	Hematuria		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9001211	cerebral venous thrombosis		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral venous thrombosis	
12090379	FBN2	fibrillin 2	gene	DOID:9001224	Striae Distensae		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9001239	Delayed Puberty		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9001733	Tinnitus		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9002134	Heart Murmurs		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9002189	High Myopia		ISO	RGD:733428	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:733428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:6465201|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12090379	FBN2	fibrillin 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12090379	FBN2	fibrillin 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:733428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:6465201
12090379	FBN2	fibrillin 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9005077	Joint Instability		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	
12090379	FBN2	fibrillin 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:733428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:6465201|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:733428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:6465201
12090379	FBN2	fibrillin 2	gene	DOID:9006437	Macular Degeneration, Early-Onset		ISO	RGD:733428	D	RGD:7240710	20180130	OMIM			
12090379	FBN2	fibrillin 2	gene	DOID:9006437	Macular Degeneration, Early-Onset		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FBN2-related condition | ClinVar Annotator: match by term: Macular degeneration, early-onset	PMID:11754102|PMID:16199547|PMID:16835936|PMID:17345643|PMID:17576681|PMID:18414213|PMID:19006240|PMID:20301560|PMID:22438950|PMID:23148498|PMID:24033266|PMID:24035709|PMID:24899048|PMID:25741868|PMID:26038974|PMID:26133393|PMID:28492532|PMID:28518168|PMID:28831199|PMID:29907982|PMID:31316167|PMID:31506931|PMID:32381728|PMID:32461654|PMID:33190788|PMID:33435129|PMID:33571691|PMID:34422331|PMID:35583931|PMID:36675693|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9006617	Fatigue		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:17576681|PMID:28492532|PMID:9536098
12090379	FBN2	fibrillin 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:733428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12090379	FBN2	fibrillin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090379	FBN2	fibrillin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9007573	Flatfoot		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:30311386
12090379	FBN2	fibrillin 2	gene	DOID:9007736	Vertigo		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:30311386
12090379	FBN2	fibrillin 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
12090379	FBN2	fibrillin 2	gene	DOID:9008539	Perinatal Death		ISO	RGD:733428	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal death	
12090379	FBN2	fibrillin 2	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:30311386
12090379	FBN2	fibrillin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090379	FBN2	fibrillin 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12090379	FBN2	fibrillin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:9834	hyperopia		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:28492532
12090379	FBN2	fibrillin 2	gene	DOID:988	mitral valve prolapse		ISO	RGD:733428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:28492532
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:1115	sarcoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:1324	lung cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:234	colon adenocarcinoma	severity	ISO	RGD:1313128	D	RGD:9068941	20220224	RGD		human cell line in a mouse model	PMID:23095742|REF_RGD_ID:151356955
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:3275	thymoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1313128	D	RGD:9068941	20220224	RGD		assoc. w/gastric cancer;DNA:frameshift mutations:exon 6, exon 17:K188fsX5, T751fsX9 (human)	PMID:24483990|REF_RGD_ID:151356954
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090451	SMC2	structural maintenance of chromosomes 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313128	D	RGD:9068941	20220224	RGD		mRNA:decreased expression:colorectum (human)	PMID:31357676|REF_RGD_ID:151356956
12090492	MYO7B	myosin VIIB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:10534	stomach cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090492	MYO7B	myosin VIIB	gene	DOID:1909	melanoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090492	MYO7B	myosin VIIB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:3275	thymoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090492	MYO7B	myosin VIIB	gene	DOID:4362	cervical cancer		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090492	MYO7B	myosin VIIB	gene	DOID:440	neuromuscular disease		ISO	RGD:1352567	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
12090492	MYO7B	myosin VIIB	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090492	MYO7B	myosin VIIB	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
12090492	MYO7B	myosin VIIB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090492	MYO7B	myosin VIIB	gene	DOID:9007661	Dwarfism		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12090492	MYO7B	myosin VIIB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090492	MYO7B	myosin VIIB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090555	STX11	syntaxin 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090555	STX11	syntaxin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090555	STX11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISO	RGD:1312365	D	RGD:7240710	20180130	OMIM			
12090555	STX11	syntaxin 11	gene	DOID:0110924	familial hemophagocytic lymphohistiocytosis 4		ISO	RGD:1312365	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 4 | ClinVar Annotator: match by term: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 | ClinVar Annotator: match by term: Hemophagocytic lymphohistiocytosis, familial, 4 | ClinVar Annotator: match by term: STX11-related condition	PMID:15703195|PMID:16582076|PMID:17525286|PMID:19967551|PMID:20486178|PMID:24459464|PMID:24524345|PMID:24916509|PMID:25741868|PMID:26004995|PMID:26176172|PMID:28399723|PMID:28492532|PMID:28750028|PMID:29113160|PMID:29665027|PMID:30290665|PMID:30899265|PMID:32542393|PMID:33746956
12090555	STX11	syntaxin 11	gene	DOID:0110925	familial hemophagocytic lymphohistiocytosis 5		ISO	RGD:1312365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5	PMID:15703195
12090555	STX11	syntaxin 11	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312365	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:24524345|PMID:25741868|PMID:28492532
12090555	STX11	syntaxin 11	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1312365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24524345|PMID:25741868|PMID:28399723|PMID:28492532|PMID:30290665
12090555	STX11	syntaxin 11	gene	DOID:630	genetic disease		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12090555	STX11	syntaxin 11	gene	DOID:9004404	Familial Hemophagocytic Lymphohistiocytoses		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis	
12090555	STX11	syntaxin 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:1115	sarcoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:1909	melanoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:3275	thymoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090566	FBXL2	F-box and leucine rich repeat protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090586	ARSJ	arylsulfatase family member J	gene	DOID:10534	stomach cancer		ISO	RGD:1606235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		IAGP		D	RGD:12801476	20250924	OMIA		Neuronal ceroid lipofuscinosis, 8	PMID:2350897|PMID:1609842|PMID:1609843|PMID:8144584|PMID:7942092|PMID:7668343|PMID:7668347|PMID:7668340|PMID:9590435|PMID:9690741|PMID:9800325|PMID:15629147|PMID:3146311|PMID:11588988|PMID:3146315|PMID:11332773|PMID:23338040|PMID:20487751|PMID:7350137|PMID:6681808|PMID:6321656|PMID:1609837|PMID:8821336|PMID:9474321|PMID:11850114|PMID:24953404|PMID:28024876|PMID:28860089|PMID:29446145|PMID:31687336|PMID:32219101|PMID:33769611|PMID:37582787|PMID:38003185|PMID:40965331
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:7240710	20180130	OMIM			
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110723	neuronal ceroid lipofuscinosis 8		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8 | ClinVar Annotator: match by term: CLN8-related disorder | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 8 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 8 | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16570191|PMID:16828266|PMID:19201763|PMID:19431184|PMID:19807737|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29915382|PMID:30293248|PMID:30397314|PMID:30741402|PMID:30919163|PMID:31069529|PMID:31130284|PMID:31440721|PMID:31741823|PMID:32348865|PMID:33358637|PMID:34532411|PMID:36011304|PMID:36912596|PMID:37074398|PMID:38229148|PMID:38277958|PMID:38751748|PMID:38857616|PMID:39675099
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:7240710	20181017	OMIM			
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:0110724	neuronal ceroid lipofuscinosis 8 northern epilepsy variant		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT | ClinVar Annotator: match by term: NORTHERN EPILEPSY | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 8 northern epilepsy variant | ClinVar Annotator: match by term: Northern epilepsy	PMID:10508524|PMID:10861296|PMID:15160397|PMID:16828266|PMID:20301601|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1059	intellectual disability		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1115	sarcoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:30741402|PMID:30919163
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15074367|PMID:15160397|PMID:16570191|PMID:16828266|PMID:18414213|PMID:19431184|PMID:19807737|PMID:2199011|PMID:21990111|PMID:22220808|PMID:23374165|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27553520|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29503925|PMID:29961513|PMID:30741402|PMID:30919163|PMID:31741823
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: neuronal ceroid lipofuscinosis	PMID:10508524|PMID:10861296|PMID:11589000|PMID:15024724|PMID:15160397|PMID:16828266|PMID:17576681|PMID:19201763|PMID:19807737|PMID:21990111|PMID:22220808|PMID:24767253|PMID:25326637|PMID:25741868|PMID:25806950|PMID:25976102|PMID:26075876|PMID:26443629|PMID:26467025|PMID:26657971|PMID:27629047|PMID:27844444|PMID:27884173|PMID:28116333|PMID:28454995|PMID:28468868|PMID:28492532|PMID:29422019|PMID:30741402|PMID:30919163|PMID:31069529|PMID:32348865|PMID:33358637|PMID:33694307|PMID:34201538|PMID:36912596|PMID:38751748|PMID:9422019|PMID:9536098
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:21990111|PMID:25741868|PMID:26467025|PMID:26657971|PMID:28454995|PMID:28492532|PMID:29503925|PMID:29961513|PMID:31741823
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:1826	epilepsy		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10861296|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2468	psychotic disorder		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:2841	asthma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:540	strabismus		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:630	genetic disease		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10508524|PMID:10861296|PMID:21990111|PMID:22220808|PMID:25741868|PMID:26075876|PMID:26467025|PMID:26657971|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532|PMID:32348865|PMID:36912596|PMID:38751748
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10861296|PMID:22220808|PMID:25741868|PMID:26075876|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:21990111|PMID:25741868|PMID:27884173|PMID:28454995|PMID:28468868|PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346223	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: marker/mechanism	PMID:22302580
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12090590	CLN8	CLN8 transmembrane ER and ERGIC protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1346223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12090602	ZBTB49	zinc finger and BTB domain containing 49	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090602	ZBTB49	zinc finger and BTB domain containing 49	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090602	ZBTB49	zinc finger and BTB domain containing 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1315520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090602	ZBTB49	zinc finger and BTB domain containing 49	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090602	ZBTB49	zinc finger and BTB domain containing 49	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:10283	prostate cancer		ISO	RGD:1345970	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:10534	stomach cancer		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:1909	melanoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090627	OIT3	oncoprotein induced transcript 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:7240710	20190612	OMIM			
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:0112211	developmental and epileptic encephalopathy 75		ISO	RGD:1603670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 75 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 75 | ClinVar Annotator: match by term: PARS2-related condition	PMID:25629079|PMID:25705216|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28077841|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31130284|PMID:31487502|PMID:32071833|PMID:32514400|PMID:32533790|PMID:33339579|PMID:34484863|PMID:37956963|PMID:38087948|PMID:38469956|PMID:38703036
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:2661	myoepithelioma		ISO	RGD:1603670	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1603670	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10447505|PMID:25741868|PMID:27290639|PMID:27348859|PMID:28492532|PMID:29410512|PMID:29915213|PMID:30237576|PMID:31487502|PMID:32071833|PMID:32514400|PMID:33339579|PMID:34484863|PMID:35012964|PMID:37956963|PMID:38087948|PMID:38469956
12090641	PARS2	prolyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12090655	FCMR	Fc mu receptor	gene	DOID:0080600	COVID-19		ISO	RGD:1603318	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:memory B cells (human)	PMID:32377375|REF_RGD_ID:32716422
12090655	FCMR	Fc mu receptor	gene	DOID:1115	sarcoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090655	FCMR	Fc mu receptor	gene	DOID:3275	thymoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090655	FCMR	Fc mu receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090655	FCMR	Fc mu receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090655	FCMR	Fc mu receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603318	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12090670	DERL2	derlin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090670	DERL2	derlin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090670	DERL2	derlin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090693	ANGPT2	angiopoietin 2	gene	DOID:0001816	angiosarcoma		ISO	RGD:730844	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
12090693	ANGPT2	angiopoietin 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:730844	D	RGD:9068941	20220811	RGD		protein:increased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
12090693	ANGPT2	angiopoietin 2	gene	DOID:0050876	Caroli disease		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct (rat)	PMID:16628643|REF_RGD_ID:2314213
12090693	ANGPT2	angiopoietin 2	gene	DOID:0051061	stroke		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:15637314|REF_RGD_ID:1626166
12090693	ANGPT2	angiopoietin 2	gene	DOID:0070658	alcohol-associated liver disease	severity	ISO	RGD:730844	D	RGD:9068941	20200609	RGD			PMID:24959006|REF_RGD_ID:15014784
12090693	ANGPT2	angiopoietin 2	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730844	D	RGD:9068941	20200626	RGD		protein:increased expression:plasma (human)	PMID:32458111|REF_RGD_ID:32716385
12090693	ANGPT2	angiopoietin 2	gene	DOID:1059	intellectual disability		ISO	RGD:11580996	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532|PMID:34670123
12090693	ANGPT2	angiopoietin 2	gene	DOID:10762	portal hypertension		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:19070926|REF_RGD_ID:2314171
12090693	ANGPT2	angiopoietin 2	gene	DOID:10808	gastric ulcer		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach (rat)	PMID:12768384|REF_RGD_ID:1601496
12090693	ANGPT2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1550503	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (mouse)	PMID:17065527|REF_RGD_ID:2314207
12090693	ANGPT2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:17692314|REF_RGD_ID:2314205
12090693	ANGPT2	angiopoietin 2	gene	DOID:13025	retinopathy of prematurity	susceptibility	ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:17692314|REF_RGD_ID:2314205
12090693	ANGPT2	angiopoietin 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus (rat)	PMID:16628643|REF_RGD_ID:2314213
12090693	ANGPT2	angiopoietin 2	gene	DOID:2316	brain ischemia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:17494864|REF_RGD_ID:2314206
12090693	ANGPT2	angiopoietin 2	gene	DOID:2527	nephrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:18929866|REF_RGD_ID:2314177
12090693	ANGPT2	angiopoietin 2	gene	DOID:2527	nephrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:18929864|REF_RGD_ID:2314178
12090693	ANGPT2	angiopoietin 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:730844	D	RGD:9068941	20200609	RGD			PMID:15705099|REF_RGD_ID:2293853
12090693	ANGPT2	angiopoietin 2	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium epithelium	PMID:17295646|REF_RGD_ID:2293852
12090693	ANGPT2	angiopoietin 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:16014048|REF_RGD_ID:2314222
12090693	ANGPT2	angiopoietin 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus (rat)	PMID:18272601|REF_RGD_ID:2314193
12090693	ANGPT2	angiopoietin 2	gene	DOID:299	adenocarcinoma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrum, blood vessels (rat)	PMID:10373119|REF_RGD_ID:2314294
12090693	ANGPT2	angiopoietin 2	gene	DOID:3070	high grade glioma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (rat)	PMID:18615861|REF_RGD_ID:2314189
12090693	ANGPT2	angiopoietin 2	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:blood vessel (rat)	PMID:17849463|REF_RGD_ID:2314204
12090693	ANGPT2	angiopoietin 2	gene	DOID:326	ischemia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:19672036|REF_RGD_ID:2313934
12090693	ANGPT2	angiopoietin 2	gene	DOID:4762	vasculogenic impotence		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia; mRNA, protein:decreased expression:cavernous body of penis (rat)	PMID:16750245|REF_RGD_ID:2314210
12090693	ANGPT2	angiopoietin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:left ventricular wall, heart septum (rat)	PMID:16714360|REF_RGD_ID:1601493
12090693	ANGPT2	angiopoietin 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:pulmonary artery (rat)	PMID:19712575|REF_RGD_ID:2314185
12090693	ANGPT2	angiopoietin 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct (rat)	PMID:16628643|REF_RGD_ID:2314213
12090693	ANGPT2	angiopoietin 2	gene	DOID:9000037	Lymphatic Malformation 10		ISO	RGD:730844	D	RGD:7240710	20210616	OMIM			
12090693	ANGPT2	angiopoietin 2	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:decreased expression:plasma	PMID:15209761|REF_RGD_ID:2313816
12090693	ANGPT2	angiopoietin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:multiple organs (rat)	PMID:18978178|REF_RGD_ID:2314174
12090693	ANGPT2	angiopoietin 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:730844	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:41092397
12090693	ANGPT2	angiopoietin 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:18692629|REF_RGD_ID:2314184
12090693	ANGPT2	angiopoietin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:15047628|REF_RGD_ID:2313817
12090693	ANGPT2	angiopoietin 2	gene	DOID:9005749	Necrosis		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, stellate cell, macrophage (rat)	PMID:15135347|REF_RGD_ID:2314239
12090693	ANGPT2	angiopoietin 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium (rat)	PMID:12737621|REF_RGD_ID:1601505
12090693	ANGPT2	angiopoietin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730844	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15823283|REF_RGD_ID:2313815
12090693	Angpt2	angiopoietin 2	gene	DOID:4676	uremia		ISO	RGD:621861	D	RGD:9068941	20200609	RGD			PMID:18751736|REF_RGD_ID:2314180
12090693	Angpt2	angiopoietin 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:621861	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (rat)	PMID:16520919|REF_RGD_ID:2314216
12090718	SP7	Sp7 transcription factor	gene	DOID:0110348	osteogenesis imperfecta type 12		ISO	RGD:736995	D	RGD:7240710	20180130	OMIM			
12090718	SP7	Sp7 transcription factor	gene	DOID:0110348	osteogenesis imperfecta type 12		ISO	RGD:736995	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 12 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type XII | ClinVar Annotator: match by term: SP7-related condition	PMID:25741868|PMID:28492532
12090718	SP7	Sp7 transcription factor	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:736995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25741868|PMID:28492532
12090718	SP7	Sp7 transcription factor	gene	DOID:1712	aortic valve stenosis	severity	ISO	RGD:736995	D	RGD:9068941	20230420	RGD			PMID:23578508|REF_RGD_ID:267010069
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601999	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090730	UIMC1	ubiquitin interaction motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090757	ZNF613	zinc finger protein 613	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090757	ZNF613	zinc finger protein 613	gene	DOID:1115	sarcoma		ISO	RGD:1346771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090757	ZNF613	zinc finger protein 613	gene	DOID:1909	melanoma		ISO	RGD:1346771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12090757	ZNF613	zinc finger protein 613	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346771	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090769	IGLON5	IgLON family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090780	GARIN3	golgi associated RAB2B interactor family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090798	ENKD1	enkurin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12090798	ENKD1	enkurin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090798	ENKD1	enkurin domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090798	ENKD1	enkurin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:1115	sarcoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:3275	thymoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1316739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090809	NOC3L	NOC3 like DNA replication regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12090856	MUCL3	mucin like 3	gene	DOID:9007425	Diffuse Panbronchiolitis		ISO	RGD:1346376	D	RGD:9068941	20230506	CTD		CTD Direct Evidence: marker/mechanism	PMID:22152429
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0060254	Robinow syndrome		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome | ClinVar Annotator: match by term: Robinow syndrome	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	PMID:29276006
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1	PMID:25741868
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:1318833	D	RGD:7240710	20190315	OMIM			
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:1318833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3 | ClinVar Annotator: match by term: DVL3-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: Robinow syndrome, autosomal dominant 3 | ClinVar Annotator: match by term: autosomal dominant Robinow syndrome 3	PMID:17576681|PMID:25741868|PMID:26924530|PMID:28492532|PMID:9536098
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1318833	D	RGD:9068941	20220721	RGD		DNA:SNP:intron:rs1969253 (human)	PMID:29193083|REF_RGD_ID:153297750
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:630	genetic disease		ISO	RGD:1318833	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1318833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:9008214	Genu Valgum		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
12090940	DVL3	dishevelled segment polarity protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:10534	stomach cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:1115	sarcoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:3082	interstitial lung disease		ISO	RGD:1314983	D	RGD:9068941	20260212	RGD		associated with diffuse scleroderma; protein:increased expression:dermis	PMID:32686186|REF_RGD_ID:631734365
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:4362	cervical cancer		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:5041	esophageal cancer		ISO	RGD:1314983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:6039	uveal melanoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1306392	D	RGD:9068941	20220331	RGD			PMID:30346985|REF_RGD_ID:151665755
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314983	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17603628
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9005487	Candidiasis, Familial, 9		ISO	RGD:1314983	D	RGD:7240710	20180130	OMIM			
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9005487	Candidiasis, Familial, 9		ISO	RGD:1314983	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CANDIDIASIS, FAMILIAL, 9 | ClinVar Annotator: match by term: Candidiasis, familial, 9 | ClinVar Annotator: match by term: IL17RC-related condition	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25918342|PMID:28492532|PMID:37395078|PMID:9536098
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12090963	IL17RC	interleukin 17 receptor C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:0060500	drug allergy		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14616128
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:1205	allergic disease		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD			PMID:17548626|REF_RGD_ID:4891484
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNP: :1265A>G (human)	PMID:12761043|REF_RGD_ID:5130932
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :304C>A, 1272A>G (human)	PMID:18712274|REF_RGD_ID:4891483
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16304252|REF_RGD_ID:5130930
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:12952266|REF_RGD_ID:4891496
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma		ISO	RGD:1321034	D	RGD:9068941	20200609	RGD			PMID:17060636|REF_RGD_ID:4891485
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :179T>C, 275C>T (human)	PMID:15207712|REF_RGD_ID:4891495
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		DNA:SNPs: :179T>C, 275C>T (human)	PMID:15580493|REF_RGD_ID:4891493
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:4483	rhinitis		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:17982926|REF_RGD_ID:4145109
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:552	pneumonia		ISO	RGD:1321033	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:9001371	Eosinophilia		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:19296494|REF_RGD_ID:4891487
12091027	CCL24	C-C motif chemokine ligand 24	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1321033	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:10415058|REF_RGD_ID:4145448
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:3275	thymoma		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091032	SAMTOR	S-adenosylmethionine sensor upstream of mTORC1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:10534	stomach cancer		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:1115	sarcoma		ISO	RGD:735866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:3070	high grade glioma		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:3275	thymoma		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:6039	uveal melanoma		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091044	SLC6A15	solute carrier family 6 member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:1324	lung cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:4362	cervical cancer		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320967	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091060	MRPL21	mitochondrial ribosomal protein L21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:10534	stomach cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:2661	myoepithelioma		ISO	RGD:1351078	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:4362	cervical cancer		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091073	CCDC28A	coiled-coil domain containing 28A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:0080600	COVID-19		ISO	RGD:735921	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:0080600	COVID-19		ISO	RGD:735921	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:1205	allergic disease		ISO	RGD:735921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:735921	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, eosinophil	PMID:16734609|REF_RGD_ID:5128618
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:2841	asthma		ISO	RGD:735921	D	RGD:9068941	20200609	RGD			PMID:10224351|PMID:20513521|REF_RGD_ID:5128623|REF_RGD_ID:5128625
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:2841	asthma		ISO	RGD:735921	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.25091G>A (human)	PMID:20592918|REF_RGD_ID:5128614
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:2841	asthma		ISO	RGD:735921	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:16217591|REF_RGD_ID:5128626
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:2841	asthma		ISO	RGD:735922	D	RGD:9068941	20200609	RGD			PMID:10848907|PMID:17276963|REF_RGD_ID:5128617|REF_RGD_ID:5128627
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:3070	high grade glioma		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735921	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15286446|REF_RGD_ID:5128619
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:350	mastocytosis		ISO	RGD:735921	D	RGD:9068941	20200609	RGD			PMID:21762978|REF_RGD_ID:11354970
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:552	pneumonia		ISO	RGD:735921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:9001371	Eosinophilia		ISO	RGD:735921	D	RGD:9068941	20200609	RGD			PMID:21762978|REF_RGD_ID:11354970
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735921	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus, serum	PMID:12752323|REF_RGD_ID:5128621
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:735921	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12091083	IL5RA	interleukin 5 receptor subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091099	ACTR5	actin related protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091099	ACTR5	actin related protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091099	ACTR5	actin related protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091099	ACTR5	actin related protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091099	ACTR5	actin related protein 5	gene	DOID:1909	melanoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091099	ACTR5	actin related protein 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091099	ACTR5	actin related protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091099	ACTR5	actin related protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091099	ACTR5	actin related protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:1324	lung cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091116	RSRC2	arginine and serine rich coiled-coil 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16543965|PMID:17549292|PMID:17880458|PMID:21812861|PMID:25741868|PMID:28520207|PMID:8584988|PMID:9657440|PMID:9827915
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:0051061	stroke		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11692020|REF_RGD_ID:1581026
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		protein:increased expression:B lymphoblast:	PMID:16894461|REF_RGD_ID:11041855
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:732286	D	RGD:7240710	20200729	OMIM			
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:0111907	thrombophilia due to thrombin defect		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THROMBOPHILIA DUE TO FACTOR 2 DEFECT	PMID:25741868
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:10808	gastric ulcer		ISO	RGD:621495	D	RGD:9068941	20200609	RGD			PMID:11435721|REF_RGD_ID:708325
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:1115	sarcoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:16642548|REF_RGD_ID:1581020
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:1909	melanoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:2211	factor XIII deficiency		ISO	RGD:732286	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Factor XIII deficiency | ClinVar Annotator: match by term: Hereditary factor XIII deficiency disease	PMID:10877543|PMID:1353995|PMID:15456491|PMID:19422454|PMID:21824284|PMID:24329762|PMID:25741868|PMID:26852661|PMID:29604433|PMID:30578706|PMID:37006978|PMID:8555083
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:732286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:2349	arteriosclerosis		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11941274|REF_RGD_ID:1581023
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:2452	thrombophilia		ISO	RGD:732286	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:732286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:3275	thymoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:5844	myocardial infarction		ISO	RGD:732286	D	RGD:7240710	20230505	OMIM			
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:5844	myocardial infarction		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, protection against | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:11057856|PMID:25741868|PMID:35969362|PMID:36369145|PMID:37832789|PMID:38332006|PMID:38540111
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:630	genetic disease		ISO	RGD:732286	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:8778	Crohn's disease		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		associated with Fistula;protein:decreased activity:plasma:	PMID:7611208|REF_RGD_ID:10450739
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:8947	diabetic retinopathy		ISO	RGD:732286	D	RGD:9068941	20200609	RGD		protein:increased expression:optic choroid vascular plexus:	PMID:11375345|REF_RGD_ID:8693344
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9000528	Coronary Disease		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:11391716|REF_RGD_ID:1581030
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:9550516|REF_RGD_ID:1581027
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:12933578|REF_RGD_ID:10450744
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:732286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10365735
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:9920839|REF_RGD_ID:1581032
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:732286	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V34L(human)	PMID:12358922|REF_RGD_ID:10450745
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9005854	Factor XIII, A Subunit, Deficiency Of		ISO	RGD:732286	D	RGD:7240710	20180130	OMIM			
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9005854	Factor XIII, A Subunit, Deficiency Of		ISO	RGD:732286	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: F13A1-related disorder | ClinVar Annotator: match by term: FACTOR XIII, A SUBUNIT, DEFICIENCY OF | ClinVar Annotator: match by term: Factor XIII subunit A deficiency | ClinVar Annotator: match by term: Factor XIII, A subunit, deficiency of	PMID:11057856|PMID:11167856|PMID:12801297|PMID:16543965|PMID:17549292|PMID:17880458|PMID:21812861|PMID:22995991|PMID:24118344|PMID:24194833|PMID:25741868|PMID:26503545|PMID:28492532|PMID:28520207|PMID:29068549|PMID:31064749|PMID:35969362|PMID:36369145|PMID:37832789|PMID:38332006|PMID:38540111|PMID:7727776|PMID:8130686|PMID:8547636|PMID:8584988|PMID:9531026|PMID:9657440|PMID:9827915
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9006889	Uterine Hemorrhage		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:12933578|REF_RGD_ID:10450744
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1550288	D	RGD:9068941	20200609	RGD			PMID:22019897|REF_RGD_ID:11041813
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9008217	Hemorrhage		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:20179087|PMID:25741868|PMID:27363989|PMID:28748566|PMID:31064749|PMID:33114181
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9286	priapism	susceptibility	ISO	RGD:732286	D	RGD:9068941	20200609	RGD		associated with sickle cell anemia;DNA:SNPs::multiple(human)	PMID:17408468|REF_RGD_ID:10450728
12091142	F13A1	coagulation factor XIII A chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:732286	D	RGD:9068941	20200609	RGD			PMID:12958612|REF_RGD_ID:1581021
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:7240710	20211222	OMIM			
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:0112355	spermatogenic failure 60		ISO	RGD:1605833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 60	PMID:25741868
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:14227	azoospermia		ISO	RGD:1605833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091162	TERB1	telomere repeat binding bouquet formation protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:7240710	20180130	OMIM			
12091210	DDX59	DEAD-box helicase 59	gene	DOID:0060375	orofaciodigital syndrome V		ISO	RGD:1606490	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDX59-related condition | ClinVar Annotator: match by term: OROFACIODIGITAL SYNDROME V | ClinVar Annotator: match by term: Orofaciodigital syndrome V	PMID:25741868|PMID:28492532|PMID:29127725|PMID:34008892|PMID:39825153
12091210	DDX59	DEAD-box helicase 59	gene	DOID:10534	stomach cancer		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:3275	thymoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:630	genetic disease		ISO	RGD:1606490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12091210	DDX59	DEAD-box helicase 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091210	DDX59	DEAD-box helicase 59	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:1324	lung cancer		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091228	GPATCH2L	G-patch domain containing 2 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1354438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20852632
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091248	SKAP1	src kinase associated phosphoprotein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091265	RNF135	ring finger protein 135	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091265	RNF135	ring finger protein 135	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456
12091265	RNF135	ring finger protein 135	gene	DOID:0060403	chromosome 17q11.2 deletion syndrome		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb	PMID:25741868
12091265	RNF135	ring finger protein 135	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1313173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	
12091265	RNF135	ring finger protein 135	gene	DOID:10534	stomach cancer		ISO	RGD:1313173	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091265	RNF135	ring finger protein 135	gene	DOID:1115	sarcoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091265	RNF135	ring finger protein 135	gene	DOID:12849	autistic disorder		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:17632510|PMID:21681106
12091265	RNF135	ring finger protein 135	gene	DOID:4362	cervical cancer		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091265	RNF135	ring finger protein 135	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091265	RNF135	ring finger protein 135	gene	DOID:9006257	Growth Disorders		ISO	RGD:1313173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632510
12091265	RNF135	ring finger protein 135	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091275	C1QTNF6	C1q and TNF related 6	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:1307057	D	RGD:9068941	20230330	RGD			PMID:35322553|REF_RGD_ID:242905190
12091275	C1QTNF6	C1q and TNF related 6	gene	DOID:5844	myocardial infarction		ISO	RGD:1307057	D	RGD:9068941	20241205	RGD		protein:decreased expression:heart	PMID:25962701|REF_RGD_ID:529435444
12091275	C1QTNF6	C1q and TNF related 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1316024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD	PMID:18711368|PMID:20952379|PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060264	pontocerebellar hypoplasia		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia	PMID:17576681|PMID:18414213|PMID:20952379|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30315573|PMID:32214227|PMID:32404165|PMID:34580403|PMID:9536098
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1602635	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:16470708|PMID:17576681|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:23757202|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26701950|PMID:27430971|PMID:27570394|PMID:27884173|PMID:28492532|PMID:29410950|PMID:32214227|PMID:9536098
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060266	pontocerebellar hypoplasia type 1B		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic pontocerebellar hypoplasia	PMID:17576681|PMID:18414213|PMID:20952379|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30315573|PMID:32404165|PMID:34580403|PMID:9536098
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060267	pontocerebellar hypoplasia type 2A		ISO	RGD:1602635	D	RGD:7240710	20180130	OMIM			
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060267	pontocerebellar hypoplasia type 2A		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2A | ClinVar Annotator: match by term: VOLENDAM NEURODEGENERATIVE DISEASE	PMID:18414213|PMID:18711368|PMID:20952379|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29302074|PMID:30315573|PMID:32404165|PMID:34580403
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060273	pontocerebellar hypoplasia type 4		ISO	RGD:1602635	D	RGD:7240710	20180221	OMIM			
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060273	pontocerebellar hypoplasia type 4		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 4 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 4 | ClinVar Annotator: match by term: TSEN54-related condition	PMID:18414213|PMID:18711368|PMID:20301773|PMID:20952379|PMID:20956791|PMID:25741868|PMID:26467025|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060274	pontocerebellar hypoplasia type 5		ISO	RGD:1602635	D	RGD:7240710	20180822	OMIM			
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0060274	pontocerebellar hypoplasia type 5		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 5	PMID:18414213|PMID:18711368|PMID:20952379|PMID:25741868|PMID:26467025|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1602635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:15109492|PMID:16470708|PMID:18414213|PMID:18485778|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29286531|PMID:29410950|PMID:38347586
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:10534	stomach cancer		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:1059	intellectual disability		ISO	RGD:1602635	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16470708|PMID:18414213|PMID:18711368|PMID:19459882|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29410950
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:10907	microcephaly		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20952379|PMID:25741868|PMID:28492532|PMID:29302074|PMID:30315573|PMID:32404165|PMID:34580403
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia | ClinVar Annotator: match by term: olivopontocerebellar hypoplasia	PMID:18414213|PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:1826	epilepsy		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15109492|PMID:16470708|PMID:18414213|PMID:18485778|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25326635|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29286531|PMID:29410950|PMID:38347586
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:1909	melanoma		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:480	movement disease		ISO	RGD:1602635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1602635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:630	genetic disease		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18711368|PMID:20952379|PMID:25741868|PMID:26467025|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1602635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9000343	Vision Disorders		ISO	RGD:1602635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711368
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1602635	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:15109492|PMID:16470708|PMID:18414213|PMID:18485778|PMID:18711368|PMID:19459882|PMID:20301773|PMID:20803644|PMID:20952379|PMID:20956791|PMID:21368912|PMID:21468723|PMID:21609947|PMID:23177318|PMID:23307886|PMID:24033266|PMID:24886362|PMID:25741868|PMID:26701950|PMID:27430971|PMID:27570394|PMID:28492532|PMID:29286531|PMID:29410950|PMID:31623504|PMID:38347586
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1602635	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091282	TSEN54	tRNA splicing endonuclease subunit 54	gene	DOID:9256	colorectal cancer		ISO	RGD:1602635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12091297	DHX34	DExH-box helicase 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:1059	intellectual disability		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
12091297	DHX34	DExH-box helicase 34	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091297	DHX34	DExH-box helicase 34	gene	DOID:1115	sarcoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:12849	autistic disorder		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12091297	DHX34	DExH-box helicase 34	gene	DOID:1324	lung cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091297	DHX34	DExH-box helicase 34	gene	DOID:1588	thrombocytopenia		ISO	RGD:1605422	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Predisposition to thrombocytopenia	
12091297	DHX34	DExH-box helicase 34	gene	DOID:1909	melanoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:3070	high grade glioma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12091297	DHX34	DExH-box helicase 34	gene	DOID:3275	thymoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:4362	cervical cancer		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091297	DHX34	DExH-box helicase 34	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091297	DHX34	DExH-box helicase 34	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091297	DHX34	DExH-box helicase 34	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605422	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorders	
12091297	DHX34	DExH-box helicase 34	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091297	DHX34	DExH-box helicase 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605422	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091344	CST8	cystatin 8	gene	DOID:12336	male infertility		ISO	RGD:736077	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20811015
12091344	CST8	cystatin 8	gene	DOID:4362	cervical cancer		ISO	RGD:736077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091344	CST8	cystatin 8	gene	DOID:5041	esophageal cancer		ISO	RGD:736077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:0080600	COVID-19		ISO	RGD:1312823	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:1324	lung cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1312823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1312823	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091354	NET1	neuroepithelial cell transforming 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091378	NAALADL2	N-acetylated alpha-linked acidic dipeptidase like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091474	ISG20L2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:3275	thymoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091474	ISG20L2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12091474	ISG20L2	interferon stimulated exonuclease gene 20 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:1909	melanoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1345232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1345232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12091490	ZDHHC23	zinc finger DHHC-type palmitoyltransferase 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:5419	schizophrenia		ISO	RGD:1602722	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12091500	SAP30BP	SAP30 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602722	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091500	SAP30BP	SAP30 binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1602722	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12091520	PRR5L	proline rich 5 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605618	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091520	PRR5L	proline rich 5 like	gene	DOID:10534	stomach cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091520	PRR5L	proline rich 5 like	gene	DOID:1324	lung cancer		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091520	PRR5L	proline rich 5 like	gene	DOID:3275	thymoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091520	PRR5L	proline rich 5 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091520	PRR5L	proline rich 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091520	PRR5L	proline rich 5 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures		ISO	RGD:1319201	D	RGD:7240710	20190315	OMIM			
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:0070352	stress-induced childhood-onset neurodegeneration with variable ataxia and seizures		ISO	RGD:1319201	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADPRHL2-Related Disorder | ClinVar Annotator: match by term: ADPRS-related condition | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	PMID:25741868|PMID:30100084|PMID:30401461|PMID:34479984|PMID:3566465|PMID:35664652|PMID:37712079|PMID:38915701
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1319201	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:1115	sarcoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1319201	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:630	genetic disease		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30401461
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:9007650	Unconsciousness		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Loss of consciousness	
12091558	ADPRS	ADP-ribosylserine hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091577	SPATA2L	spermatogenesis associated 2 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091577	SPATA2L	spermatogenesis associated 2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091577	SPATA2L	spermatogenesis associated 2 like	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605588	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:11091222|PMID:28492532|PMID:29098742
12091577	SPATA2L	spermatogenesis associated 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091591	H1-8	H1.8 linker histone	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:11907649|PMID:12920079|PMID:16283880|PMID:21786053|PMID:22975204|PMID:24033266|PMID:24526180|PMID:25262649|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:34599368|PMID:37713394|PMID:37811145|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:11137999|PMID:16021470|PMID:17551081|PMID:22975204|PMID:24033266|PMID:25741868|PMID:26445815|PMID:28492532|PMID:29889784|PMID:30311386|PMID:30622556|PMID:34440452|PMID:34868270
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:7240710	20180130	OMIM			
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 8 | ClinVar Annotator: match by term: TMPRSS3-related condition	PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16199547|PMID:16283880|PMID:16460646|PMID:16524950|PMID:17551081|PMID:17576681|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24130743|PMID:24416283|PMID:24526180|PMID:24657061|PMID:24853665|PMID:25262649|PMID:25474651|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26506222|PMID:26969326|PMID:27344577|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:28984810|PMID:29072634|PMID:29196752|PMID:29293505|PMID:29431110|PMID:29889784|PMID:30242206|PMID:30303587|PMID:30311386|PMID:30622556|PMID:30919572|PMID:31016883|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31379920|PMID:31389194|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31835641|PMID:31850270|PMID:31980526|PMID:32235586|PMID:32306631|PMID:3285355|PMID:32853555|PMID:32860223|PMID:33179747|PMID:33297549|PMID:33597575|PMID:34416374|PMID:34440452|PMID:34593925|PMID:3459936|PMID:34599368|PMID:34837038|PMID:34868270|PMID:35802133|PMID:35864128|PMID:36633841|PMID:36871673|PMID:37086329|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166|PMID:9536098
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:0110527	autosomal recessive nonsyndromic deafness 8		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 8 | ClinVar Annotator: match by term: Deafness, autosomal recessive 10 | ClinVar Annotator: match by term: TMPRSS3-related condition	PMID:11137999|PMID:11424922|PMID:11462234|PMID:11907649|PMID:12393794|PMID:12920079|PMID:16021470|PMID:16283880|PMID:16524950|PMID:17551081|PMID:17981648|PMID:18928407|PMID:21534946|PMID:21786053|PMID:22382023|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24416283|PMID:24526180|PMID:24853665|PMID:25262649|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26346818|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29072634|PMID:29196752|PMID:29431110|PMID:29937438|PMID:30242206|PMID:30311386|PMID:30622556|PMID:30919572|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31581539|PMID:31589614|PMID:31850270|PMID:31980526|PMID:32235586|PMID:32860223|PMID:33297549|PMID:34416374|PMID:34426522|PMID:34440452|PMID:34519870|PMID:3459936|PMID:34599368|PMID:34837038|PMID:34868270|PMID:35864128|PMID:35961784|PMID:36147510|PMID:36871673|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11424922|PMID:11907649|PMID:12920079|PMID:15447792|PMID:16021470|PMID:16283880|PMID:16460646|PMID:19170735|PMID:21534946|PMID:21786053|PMID:22975204|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26036852|PMID:26408194|PMID:26969326|PMID:28492532|PMID:28566687|PMID:29293505|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:32853555|PMID:34599368|PMID:34868270|PMID:37331337|PMID:37713394|PMID:37811145
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11424922|PMID:12920079|PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:10316	pneumoconiosis		ISO	RGD:1320861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:10534	stomach cancer		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11424922|PMID:12920079|PMID:24853665|PMID:25741868|PMID:28492532|PMID:28566687
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:10907	microcephaly		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:12849	autistic disorder		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:1826	epilepsy		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1320861	D	RGD:9068941	20200609	RGD			PMID:14695172|REF_RGD_ID:2325152
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320861	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:630	genetic disease		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532|PMID:34519870|PMID:38691166|PMID:39373914
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9001733	Tinnitus		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9003126	Hallucinations		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Auditory hallucination	PMID:16283880|PMID:21786053|PMID:22975204|PMID:23967202|PMID:24033266|PMID:25262649|PMID:25741868|PMID:26969326|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29431110|PMID:30242206|PMID:30311386|PMID:31152317|PMID:31589614|PMID:31980526|PMID:34599368|PMID:36147510|PMID:37713394|PMID:37811145
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:11137999|PMID:11424922|PMID:11907649|PMID:12393794|PMID:12920079|PMID:16021470|PMID:16283880|PMID:16524950|PMID:17551081|PMID:17981648|PMID:18928407|PMID:21786053|PMID:22975204|PMID:23208854|PMID:23958653|PMID:23967202|PMID:24033266|PMID:24526180|PMID:24853665|PMID:25262649|PMID:25741868|PMID:25770132|PMID:26036852|PMID:26408194|PMID:26445815|PMID:26467025|PMID:26969326|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29072634|PMID:29196752|PMID:29431110|PMID:29889784|PMID:29937438|PMID:30242206|PMID:30311386|PMID:30622556|PMID:31045651|PMID:31053783|PMID:31152317|PMID:31412945|PMID:31589614|PMID:31980526|PMID:32860223|PMID:34426522|PMID:34440452|PMID:34519870|PMID:34593925|PMID:34599368|PMID:34868270|PMID:35961784|PMID:36147510|PMID:36871673|PMID:37331337|PMID:37713394|PMID:37811145|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11907649|PMID:12920079|PMID:21786053|PMID:24033266|PMID:24526180|PMID:25741868|PMID:26467025|PMID:28246597|PMID:28263784|PMID:28492532|PMID:28566687|PMID:28695016|PMID:29196752|PMID:30242206|PMID:30311386|PMID:31053783|PMID:31412945|PMID:34599368|PMID:38691166
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9008681	Deafness		ISO	RGD:1320861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1320861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:12920079|PMID:24033266|PMID:25741868|PMID:28492532
12091602	TMPRSS3	transmembrane serine protease 3	gene	DOID:9834	hyperopia		ISO	RGD:1320861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17551081|PMID:21786053|PMID:23208854|PMID:23958653|PMID:24033266|PMID:24526180|PMID:25741868|PMID:28246597|PMID:28492532|PMID:28566687|PMID:28695016|PMID:30311386|PMID:31045651|PMID:31412945|PMID:32860223|PMID:34599368|PMID:37331337
12091622	SPRED3	sprouty related EVH1 domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091622	SPRED3	sprouty related EVH1 domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091622	SPRED3	sprouty related EVH1 domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091622	SPRED3	sprouty related EVH1 domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091622	SPRED3	sprouty related EVH1 domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091643	DACH2	dachshund family transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:0080600	COVID-19		ISO	RGD:1321100	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:4362	cervical cancer		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:5041	esophageal cancer		ISO	RGD:1321100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091659	ZBTB43	zinc finger and BTB domain containing 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:0080375	gastroesophageal adenocarcinoma		ISO	RGD:1351586	D	RGD:9068941	20220224	RGD			PMID:33334899|REF_RGD_ID:151356972
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1115	sarcoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1324	lung cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:1909	melanoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1351586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091673	MAP3K13	mitogen-activated protein kinase kinase kinase 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1351586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12091708	CABS1	calcium binding protein, spermatid associated 1	gene	DOID:9005372	Inflammation	treatment	ISO	RGD:1604567	D	RGD:9068941	20200609	RGD			PMID:25632019|REF_RGD_ID:14400306
12091708	CABS1	calcium binding protein, spermatid associated 1	gene	DOID:9007278	Anaphylaxis	treatment	ISO	RGD:1604567	D	RGD:9068941	20200609	RGD			PMID:25632019|REF_RGD_ID:14400306
12091721	TNFRSF6B	TNF receptor superfamily member 6b	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1353622	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:0070563	glucose-galactose malabsorption		ISO	RGD:732146	D	RGD:7240710	20180130	OMIM			
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:0070563	glucose-galactose malabsorption		ISO	RGD:732146	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital glucose-galactose malabsorption | ClinVar Annotator: match by term: GLUCOSE/GALACTOSE MALABSORPTION | ClinVar Annotator: match by term: Glucose/galactose malabsorption | ClinVar Annotator: match by term: MONOSACCHARIDE MALABSORPTION | ClinVar Annotator: match by term: Monosaccharide malabsorption	PMID:10036327|PMID:12139397|PMID:14673631|PMID:16199547|PMID:17576681|PMID:17903058|PMID:19167319|PMID:19763152|PMID:2008213|PMID:20307669|PMID:20486940|PMID:22314875|PMID:22406018|PMID:24033266|PMID:24048166|PMID:25741868|PMID:28152538|PMID:28283348|PMID:28492532|PMID:28753187|PMID:30656007|PMID:33567694|PMID:34485913|PMID:34737908|PMID:8563765|PMID:9536098|PMID:9815014
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:1324	lung cancer		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:630	genetic disease		ISO	RGD:732146	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9000351	Diarrhea 9		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9002984	Malabsorption Syndromes		ISO	RGD:732146	D	RGD:9068941	20200609	RGD		glucose/galactose malabsorption,OMIM:606824;DNA:point mutation:exon:D28N	PMID:2008213|REF_RGD_ID:1624257
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9005253	Hypernatremia		ISO	RGD:732146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hypernatremia	PMID:25741868
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
12091808	SLC5A1	solute carrier family 5 member 1	gene	DOID:9432	renal glycosuria		ISO	RGD:732146	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Renal glucosuria	PMID:25741868
12091826	PRR19	proline rich 19	gene	DOID:1324	lung cancer		ISO	RGD:1604489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1560747	D	RGD:9068941	20250424	RGD		mRNA:decreased expression:liver	PMID:9113274|REF_RGD_ID:598147064
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1343813	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:17480010
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091840	ST6GALNAC2	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091856	ESR1	estrogen receptor 1	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30165855
12091856	ESR1	estrogen receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091856	ESR1	estrogen receptor 1	gene	DOID:0080001	bone disease		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28505433
12091856	ESR1	estrogen receptor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736559	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: therapeutic	PMID:34274649
12091856	ESR1	estrogen receptor 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:21420980|REF_RGD_ID:8553241
12091856	ESR1	estrogen receptor 1	gene	DOID:0110264	cataract 33		ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:12082175|REF_RGD_ID:734947
12091856	ESR1	estrogen receptor 1	gene	DOID:10247	pleurisy		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:17035596|REF_RGD_ID:4892303
12091856	ESR1	estrogen receptor 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:17908481|REF_RGD_ID:2290023
12091856	ESR1	estrogen receptor 1	gene	DOID:10283	prostate cancer	severity	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17922863|REF_RGD_ID:2290022
12091856	ESR1	estrogen receptor 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:repeat	PMID:18006911|REF_RGD_ID:2290020
12091856	ESR1	estrogen receptor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
12091856	ESR1	estrogen receptor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:10558867|REF_RGD_ID:1358612
12091856	ESR1	estrogen receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736559	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:16712894|PMID:35764155
12091856	ESR1	estrogen receptor 1	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:24872436|REF_RGD_ID:10045676
12091856	ESR1	estrogen receptor 1	gene	DOID:11383	cryptorchidism		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:testis	PMID:20951417|REF_RGD_ID:8553220
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:21421090|REF_RGD_ID:10045841
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:10773580|REF_RGD_ID:10045834
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:g.938C>T (human)	PMID:16530497|REF_RGD_ID:10045825
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:2014G>A (human)	PMID:17953702|REF_RGD_ID:10045839
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:397T>C (human)	PMID:23137636|REF_RGD_ID:10045665
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron: (rs2234693, rs9340799) (human)	PMID:20116372|REF_RGD_ID:10045826
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:repeat:intron:IVS5+225(CA)18-25 (human)	PMID:17896124|REF_RGD_ID:10045828
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:repeat:5' utr:g.-1174(TA)10-27 (human)	PMID:17953702|REF_RGD_ID:10045839
12091856	ESR1	estrogen receptor 1	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:16955786|REF_RGD_ID:8694129
12091856	ESR1	estrogen receptor 1	gene	DOID:12306	vitiligo	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:exon	PMID:15381239|REF_RGD_ID:8552976
12091856	ESR1	estrogen receptor 1	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron	PMID:15381239|REF_RGD_ID:8552976
12091856	ESR1	estrogen receptor 1	gene	DOID:12336	male infertility		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20833731|PMID:23213263
12091856	ESR1	estrogen receptor 1	gene	DOID:1240	leukemia		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18808365
12091856	ESR1	estrogen receptor 1	gene	DOID:127	leiomyoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18701604|PMID:31468104
12091856	ESR1	estrogen receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091856	ESR1	estrogen receptor 1	gene	DOID:14228	oligospermia		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20833731
12091856	ESR1	estrogen receptor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24055055|PMID:24185510|PMID:24185512|PMID:24398047|PMID:25991817|PMID:28945887|PMID:29438694|PMID:29533785|PMID:31362937|PMID:33184106|PMID:35101336|PMID:8114756
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer		ISO	RGD:736559	D	RGD:7240710	20260812	OMIM			
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:19320640|REF_RGD_ID:8552981
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP: :908A>G (p.K303R) (human)	PMID:15034868|REF_RGD_ID:8553053
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2234693, rs9340799 (human)	PMID:20846920|REF_RGD_ID:8552980
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:736559	D	RGD:9068941	20260813	RGD		DNA:SNP:exon:2014G>A (human)	PMID:19636371|REF_RGD_ID:8552982
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:736559	D	RGD:9068941	20260813	RGD		DNA:SNPs, haplotypes:promoter, exon	PMID:15604249|REF_RGD_ID:8552978
12091856	ESR1	estrogen receptor 1	gene	DOID:1612	breast cancer	treatment	ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:19011961|REF_RGD_ID:8552979
12091856	ESR1	estrogen receptor 1	gene	DOID:1909	melanoma	severity	ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:19153340|REF_RGD_ID:8553064
12091856	ESR1	estrogen receptor 1	gene	DOID:1936	atherosclerosis		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11894143
12091856	ESR1	estrogen receptor 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:11160157|REF_RGD_ID:8553067
12091856	ESR1	estrogen receptor 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:24548484|PMID:25098259|REF_RGD_ID:10045843|REF_RGD_ID:10045845
12091856	ESR1	estrogen receptor 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:17903303|REF_RGD_ID:4892301
12091856	ESR1	estrogen receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental;protein:decreased expression:ovary, breast	PMID:16891317|REF_RGD_ID:2290042
12091856	ESR1	estrogen receptor 1	gene	DOID:2696	Leydig cell tumor		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:17656605|REF_RGD_ID:2290041
12091856	ESR1	estrogen receptor 1	gene	DOID:289	endometriosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:16500359|REF_RGD_ID:1580337
12091856	ESR1	estrogen receptor 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20962747
12091856	ESR1	estrogen receptor 1	gene	DOID:299	adenocarcinoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718|PMID:20458558
12091856	ESR1	estrogen receptor 1	gene	DOID:305	carcinoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090|PMID:17173897
12091856	ESR1	estrogen receptor 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24680642
12091856	ESR1	estrogen receptor 1	gene	DOID:3275	thymoma		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091856	ESR1	estrogen receptor 1	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:18285421|REF_RGD_ID:4892300
12091856	ESR1	estrogen receptor 1	gene	DOID:3393	coronary artery disease		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20559769|PMID:9396482
12091856	ESR1	estrogen receptor 1	gene	DOID:3393	coronary artery disease		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:16159931|REF_RGD_ID:1580335
12091856	ESR1	estrogen receptor 1	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation	PMID:15355923|REF_RGD_ID:8552986
12091856	ESR1	estrogen receptor 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:breast	PMID:18234277|REF_RGD_ID:2290017
12091856	ESR1	estrogen receptor 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:hypermethylation: :lung	PMID:19506903|REF_RGD_ID:4892255
12091856	ESR1	estrogen receptor 1	gene	DOID:418	systemic scleroderma	susceptibility	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:	PMID:19032828|REF_RGD_ID:8553058
12091856	ESR1	estrogen receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091856	ESR1	estrogen receptor 1	gene	DOID:4448	macular degeneration		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:intron:c.454-397T>C, c.454-351A>G (rs2234693, rs9340799) (human)	PMID:17325140|REF_RGD_ID:10045664
12091856	ESR1	estrogen receptor 1	gene	DOID:5223	infertility		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:24506075|REF_RGD_ID:8552987
12091856	ESR1	estrogen receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:736559	D	RGD:7240710	20260812	OMIM			
12091856	ESR1	estrogen receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:736559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:25741868
12091856	ESR1	estrogen receptor 1	gene	DOID:6364	migraine		ISO	RGD:736559	D	RGD:7240710	20260812	OMIM			
12091856	ESR1	estrogen receptor 1	gene	DOID:6364	migraine		ISO	RGD:736559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:25741868
12091856	ESR1	estrogen receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:20081107|REF_RGD_ID:4892253
12091856	ESR1	estrogen receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144|PMID:28284560
12091856	ESR1	estrogen receptor 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:736559	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
12091856	ESR1	estrogen receptor 1	gene	DOID:769	neuroblastoma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27366082
12091856	ESR1	estrogen receptor 1	gene	DOID:8029	sporadic breast cancer		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17932744|REF_RGD_ID:2290043
12091856	ESR1	estrogen receptor 1	gene	DOID:8029	sporadic breast cancer	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:17904846|REF_RGD_ID:8552977
12091856	ESR1	estrogen receptor 1	gene	DOID:8283	peritonitis	treatment	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:23063870|REF_RGD_ID:8553243
12091856	ESR1	estrogen receptor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs2234693) (human)	PMID:20417295|REF_RGD_ID:10045662
12091856	ESR1	estrogen receptor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs2234693, rs9340799) (human)	PMID:19884274|REF_RGD_ID:10045830
12091856	ESR1	estrogen receptor 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:22025007|REF_RGD_ID:8553211
12091856	ESR1	estrogen receptor 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16220300
12091856	ESR1	estrogen receptor 1	gene	DOID:8646	substance-induced psychosis		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19386276
12091856	ESR1	estrogen receptor 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17924141|REF_RGD_ID:2290024
12091856	ESR1	estrogen receptor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:25105782|REF_RGD_ID:10045844
12091856	ESR1	estrogen receptor 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:736559	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12091856	ESR1	estrogen receptor 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736559	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090|PMID:17173897|PMID:34606849
12091856	ESR1	estrogen receptor 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus	PMID:23465388|REF_RGD_ID:8553242
12091856	ESR1	estrogen receptor 1	gene	DOID:9000555	Vulvar Lichen Sclerosus		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:18076706|REF_RGD_ID:2293866
12091856	ESR1	estrogen receptor 1	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:16522460|REF_RGD_ID:4892312
12091856	ESR1	estrogen receptor 1	gene	DOID:9000918	Disease Progression		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20104649
12091856	ESR1	estrogen receptor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736559	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:20104649|PMID:35044086
12091856	ESR1	estrogen receptor 1	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15324358|REF_RGD_ID:10045837
12091856	ESR1	estrogen receptor 1	gene	DOID:9001004	Chronic Periodontitis	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15324358|REF_RGD_ID:10045837
12091856	ESR1	estrogen receptor 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736559	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35044086
12091856	ESR1	estrogen receptor 1	gene	DOID:9001708	Hemorrhagic Shock	severity	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:20195535|REF_RGD_ID:4892252
12091856	ESR1	estrogen receptor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10551	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:glomerulus	PMID:15550505|REF_RGD_ID:2314023
12091856	ESR1	estrogen receptor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney	PMID:16464734|REF_RGD_ID:2314020
12091856	ESR1	estrogen receptor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:snps:introns: multiple(human)	PMID:18305958|REF_RGD_ID:2314005
12091856	ESR1	estrogen receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:19285805|REF_RGD_ID:8553066
12091856	ESR1	estrogen receptor 1	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:736559	D	RGD:7240710	20260812	OMIM			
12091856	ESR1	estrogen receptor 1	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:736559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESTROGEN INSENSITIVITY | ClinVar Annotator: match by term: ESTROGEN RESISTANCE | ClinVar Annotator: match by term: Estrogen resistance | ClinVar Annotator: match by term: Estrogen resistance syndrome	PMID:25741868
12091856	ESR1	estrogen receptor 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18505767
12091856	ESR1	estrogen receptor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16220300|PMID:17176215
12091856	ESR1	estrogen receptor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:c.1782G>A (rs2228480) (human)	PMID:20128071|REF_RGD_ID:10045835
12091856	ESR1	estrogen receptor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron: (rs2234693, rs9340799) (human)	PMID:24772413|REF_RGD_ID:10045829
12091856	ESR1	estrogen receptor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:intron, exon	PMID:15380041|REF_RGD_ID:10045840
12091856	ESR1	estrogen receptor 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter:-1174(TA)9-25 (human)	PMID:16098017|REF_RGD_ID:10043199
12091856	ESR1	estrogen receptor 1	gene	DOID:9002407	Spinal Fractures	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:mutation, SNP:intron, exon: , 274G>C (human)	PMID:12183765|REF_RGD_ID:10045833
12091856	ESR1	estrogen receptor 1	gene	DOID:9002407	Spinal Fractures	susceptibility	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron:g.-397T>C, g.-351A>G (human)	PMID:12915669|REF_RGD_ID:10045836
12091856	ESR1	estrogen receptor 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10551	D	RGD:9068941	20200609	RGD		associated with Osteoporosis	PMID:20112355|REF_RGD_ID:10045851
12091856	ESR1	estrogen receptor 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs9340799 (human)	PMID:15523071|REF_RGD_ID:10045827
12091856	ESR1	estrogen receptor 1	gene	DOID:9002589	Bone Fractures	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP, repeat:promoter:rs2234693 (human)	PMID:15523071|REF_RGD_ID:10045827
12091856	ESR1	estrogen receptor 1	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12091856	ESR1	estrogen receptor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718|PMID:17659810
12091856	ESR1	estrogen receptor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:736559	D	RGD:9068941	20200609	RGD			PMID:17659810|REF_RGD_ID:4892302
12091856	ESR1	estrogen receptor 1	gene	DOID:9003919	Urination Disorders	treatment	ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:24259512|REF_RGD_ID:10045674
12091856	ESR1	estrogen receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12091856	ESR1	estrogen receptor 1	gene	DOID:9004265	Endometrioid Carcinomas	severity	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation	PMID:14559803|REF_RGD_ID:4105451
12091856	ESR1	estrogen receptor 1	gene	DOID:9004272	Varicose Ulcer	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:polymorphism:(TA) dinucleotide repeat	PMID:16153823|REF_RGD_ID:1626508
12091856	ESR1	estrogen receptor 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736559	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:26990689|PMID:27366082|PMID:35044086
12091856	ESR1	estrogen receptor 1	gene	DOID:9004914	Postmenopausal Osteoporosis	susceptibility	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron: (rs2234693, rs9340799) (human)	PMID:16972020|REF_RGD_ID:10045838
12091856	ESR1	estrogen receptor 1	gene	DOID:9004914	Postmenopausal Osteoporosis	treatment	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS1T>C (human)	PMID:16604479|REF_RGD_ID:8158082
12091856	ESR1	estrogen receptor 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20556506
12091856	ESR1	estrogen receptor 1	gene	DOID:9005040	Hand Osteoarthritis	no_association	ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons: (rs2077647, rs1801132) (human)	PMID:19884274|REF_RGD_ID:10045830
12091856	ESR1	estrogen receptor 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11872642|PMID:17077188
12091856	ESR1	estrogen receptor 1	gene	DOID:9005228	Musculoskeletal Pain		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25218601
12091856	ESR1	estrogen receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:11759285|REF_RGD_ID:8553057
12091856	ESR1	estrogen receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell, nucleus	PMID:15637090|REF_RGD_ID:8552983
12091856	ESR1	estrogen receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
12091856	ESR1	estrogen receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms	susceptibility	ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:18055862|REF_RGD_ID:2290019
12091856	ESR1	estrogen receptor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		protein:decreased expression:penis	PMID:15596216|REF_RGD_ID:2306775
12091856	ESR1	estrogen receptor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2581	D	RGD:9068941	20200609	RGD		protein:decreased expression:vagina,nucleus	PMID:16734901|REF_RGD_ID:2314014
12091856	ESR1	estrogen receptor 1	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.-397T>C (human)	PMID:17419075|REF_RGD_ID:10045661
12091856	ESR1	estrogen receptor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20962747
12091856	ESR1	estrogen receptor 1	gene	DOID:9006421	Feminization		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22275727
12091856	ESR1	estrogen receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091856	ESR1	estrogen receptor 1	gene	DOID:9007181	Osteoporotic Fractures		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:25085540|REF_RGD_ID:10045675
12091856	ESR1	estrogen receptor 1	gene	DOID:9007181	Osteoporotic Fractures		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:introns: (rs9397448, rs2234693, rs1643821) (human)	PMID:22807154|REF_RGD_ID:10045832
12091856	ESR1	estrogen receptor 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16712894
12091856	ESR1	estrogen receptor 1	gene	DOID:9007456	Female Infertility		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23710174
12091856	ESR1	estrogen receptor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24014025|PMID:27366082
12091856	ESR1	estrogen receptor 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736559	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:37691128
12091856	ESR1	estrogen receptor 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185510
12091856	ESR1	estrogen receptor 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:18314151|REF_RGD_ID:4892299
12091856	ESR1	estrogen receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736559	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:24185510|PMID:24185512|PMID:24398047
12091856	ESR1	estrogen receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736559	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10945602|PMID:16280033|PMID:17545528|PMID:17553133|PMID:23236557|PMID:25741868
12091856	ESR1	estrogen receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091856	ESR1	estrogen receptor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:17097034|REF_RGD_ID:2314012
12091856	ESR1	estrogen receptor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736559	D	RGD:9068941	20200609	RGD		DNA:snps:introns: rs3020314, rs985694, rs1884051(human)	PMID:18854778|REF_RGD_ID:2314003
12091856	ESR1	estrogen receptor 1	gene	DOID:9970	obesity		ISO	RGD:10551	D	RGD:9068941	20200609	RGD			PMID:11095962|REF_RGD_ID:8553065
12091856	ESR1	estrogen receptor 1	gene	DOID:9970	obesity		ISO	RGD:2581	D	RGD:9068941	20200609	RGD			PMID:22230815|REF_RGD_ID:8553199
12091856	ESR1	estrogen receptor 1	gene	DOID:9970	obesity		ISO	RGD:736559	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20667977
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22963039|REF_RGD_ID:7244290
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:19129927|REF_RGD_ID:2317987
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19336590|REF_RGD_ID:5131166
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0061118	autosomal dominant tubulointerstitial kidney disease 2		ISO	RGD:737252	D	RGD:7240710	20180130	OMIM			
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0061118	autosomal dominant tubulointerstitial kidney disease 2		ISO	RGD:737252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUC1-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2	PMID:25741868|PMID:33532864
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:0080600	COVID-19		ISO	RGD:737252	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:10140	dry eye syndrome		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		DNA:splice variant: :rs4072037 (human)	PMID:18619437|REF_RGD_ID:7349376
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:10140	dry eye syndrome		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:conjuctival epithelial cell, tear	PMID:22089171|REF_RGD_ID:7349375
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:10283	prostate cancer	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:16475027|REF_RGD_ID:7349340
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:10534	stomach cancer		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:10754	otitis media		ISO	RGD:3122	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections;mRNA:increased expression:middle ear	PMID:11576628|REF_RGD_ID:2303743
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10468735|REF_RGD_ID:7245967
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1115	sarcoma		ISO	RGD:737252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:11204	allergic conjunctivitis	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:17177679|REF_RGD_ID:7349351
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:11339	pneumocystosis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9617869|REF_RGD_ID:5131424
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with critical illness; protein:increased expression:plasma	PMID:16779848|REF_RGD_ID:5131171
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:114	heart disease		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Bronchiolitis, Viral; protein:increased expression:serum	PMID:19856476|REF_RGD_ID:5131164
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:11650	bronchopulmonary dysplasia	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:cord plasma	PMID:18025794|REF_RGD_ID:5131170
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:14665489|REF_RGD_ID:5131177
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:13891	bird fancier's lung		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15881280|REF_RGD_ID:5131172
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1485	cystic fibrosis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:19960788|REF_RGD_ID:5131272
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1612	breast cancer		ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:8869094|REF_RGD_ID:7349378
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737252	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:18039393|PMID:18383873|PMID:18575732|PMID:19129927|REF_RGD_ID:2317987|REF_RGD_ID:2324635|REF_RGD_ID:2324637|REF_RGD_ID:2324639
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased secretion:bile	PMID:19055478|REF_RGD_ID:2324622
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:14654947|REF_RGD_ID:2317984
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16969297|REF_RGD_ID:5131273
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:2841	asthma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11802251|REF_RGD_ID:5131281
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Pancreatic Diseases	PMID:20357691|REF_RGD_ID:2317980
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3082	interstitial lung disease		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:increased expression:serum	PMID:19286849|REF_RGD_ID:4143496
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3082	interstitial lung disease		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15088311|REF_RGD_ID:5131176
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3082	interstitial lung disease	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15654008|REF_RGD_ID:5131173
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum (human)	PMID:21474912|REF_RGD_ID:5131160
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:breast	PMID:7678777|REF_RGD_ID:2324855
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:pancreas	PMID:14681945|REF_RGD_ID:2317983
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:18713982|PMID:19109152|REF_RGD_ID:2324616|REF_RGD_ID:2324633
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:8694545|REF_RGD_ID:5131260
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:418	systemic scleroderma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19286849|REF_RGD_ID:4143496
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4362	cervical cancer		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:10390012|REF_RGD_ID:7245968
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4481	allergic rhinitis		ISO	RGD:3122	D	RGD:9068941	20210709	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:31425778|REF_RGD_ID:127345100
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4481	allergic rhinitis		ISO	RGD:737252	D	RGD:9068941	20210709	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:31425778|REF_RGD_ID:127345100
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:3122	D	RGD:9068941	20210716	RGD			PMID:31425778|REF_RGD_ID:127345100
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4608	common bile duct neoplasm	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:8766528|REF_RGD_ID:2324856
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3122	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bile duct	PMID:18081149|REF_RGD_ID:2324638
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3122	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct:	PMID:15213623|REF_RGD_ID:2324667
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19260467|REF_RGD_ID:2324664
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased secretion:bile	PMID:19055478|REF_RGD_ID:2324622
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:19639217|REF_RGD_ID:2317986
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:5041	esophageal cancer		ISO	RGD:737252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:552	pneumonia		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11802251|REF_RGD_ID:5131281
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:630	genetic disease		ISO	RGD:737252	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737252	D	RGD:9068941	20260416	RGD		associated with interstitial lung disease; protein:increased expression:blood	PMID:26327779|REF_RGD_ID:645123293
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:850	lung disease		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with arthritis, rheumatoid; protein:increased expression:serum	PMID:15526815|REF_RGD_ID:5131175
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:850	lung disease	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:10931429|REF_RGD_ID:5131182
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:8622	measles	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11802251|REF_RGD_ID:5131281
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000011	Gallbladder Neoplasms	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:gallbladder	PMID:10398137|REF_RGD_ID:2324857
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell;	PMID:10390012|REF_RGD_ID:7245968
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Common Bile Duct Neoplasms	PMID:16222735|REF_RGD_ID:2324649
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Esophageal Neoplasms	PMID:21339746|REF_RGD_ID:7349383
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Gallbladder Neoplasms;protein:altered localization:gallbladder	PMID:11295067|REF_RGD_ID:2324860
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098866
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:12941828|PMID:16707592|REF_RGD_ID:2324648|REF_RGD_ID:2324652
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell;	PMID:10390012|REF_RGD_ID:7245968
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:3122	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:bile duct	PMID:21775928|REF_RGD_ID:7364757
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3122	D	RGD:9068941	20200609	RGD			PMID:19287349|REF_RGD_ID:7349369
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9002661	Diabetes Complications		ISO	RGD:3122	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23977093|REF_RGD_ID:7349380
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9003566	Mesothelioma		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18454162
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3122	D	RGD:9068941	20200609	RGD			PMID:23977093|REF_RGD_ID:7349380
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:737252	D	RGD:9068941	20200609	RGD			PMID:23015160|REF_RGD_ID:7349374
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:3122	D	RGD:9068941	20200609	RGD			PMID:22019164|REF_RGD_ID:7245959
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9006404	Tubulointerstitial Nephritis and Uveitis		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney tubule, serum:	PMID:17162148|REF_RGD_ID:7246892
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9006532	Hematologic Neoplasms		ISO	RGD:737252	D	RGD:9068941	20200609	RGD		associated with Pneumonia, Pneumocystis; protein:increased expression:serum	PMID:12186700|REF_RGD_ID:5131276
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9006928	Viral Bronchiolitis	severity	ISO	RGD:737252	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19856476|REF_RGD_ID:5131164
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22457794
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9423	blepharitis		ISO	RGD:10927	D	RGD:9068941	20200609	RGD			PMID:10359313|REF_RGD_ID:7349379
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9538	multiple myeloma		ISO	RGD:737252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9949172
12091882	MUC1	mucin 1, cell surface associated	gene	DOID:9700	bacterial conjunctivitis		ISO	RGD:10927	D	RGD:9068941	20200609	RGD			PMID:10359313|REF_RGD_ID:7349379
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:5041	esophageal cancer		ISO	RGD:1601875	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091899	USP49	ubiquitin specific peptidase 49	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061203	maple syrup urine disease type IA		ISO	RGD:1351460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:11448970|PMID:19480318|PMID:19715473|PMID:22350544|PMID:22593002|PMID:25741868|PMID:26232051|PMID:26257134|PMID:28197878|PMID:28492532|PMID:30228974
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061206	maple syrup urine disease type IB		ISO	RGD:1351460	D	RGD:7240710	20240214	OMIM			
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:0061206	maple syrup urine disease type IB		ISO	RGD:1351460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BCKDHB-related condition | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE IB | ClinVar Annotator: match by term: Maple syrup urine disease type 1B | ClinVar Annotator: match by term: Maple syrup urine disease, type Ib | ClinVar Annotator: match by term: maple syrup urine disease type 1B	PMID:0228974|PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25525159|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26786177|PMID:26830710|PMID:27507644|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28612395|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30014008|PMID:30228974|PMID:30293248|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35611242|PMID:36874425|PMID:36911408|PMID:37421976|PMID:38837343|PMID:38957900|PMID:39456016|PMID:39519275|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1351460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005627	Metabolic Brain Diseases		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: metabolic encephalopathy	PMID:25741868|PMID:28492532|PMID:33300147
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2197	D	RGD:9068941	20200609	RGD		Protein:increased expression:liver;	PMID:9460082|REF_RGD_ID:1599467
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32193832|PMID:32812330|PMID:33131499|PMID:33300147|PMID:34556729|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Keto acid decarboxylase deficiency | ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27629047|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease | ClinVar Annotator: match by term: Maple syrup urine disease, mild variant	PMID:10903343|PMID:11112664|PMID:11448970|PMID:11509994|PMID:12646665|PMID:14504270|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:17922217|PMID:18378174|PMID:18777518|PMID:19282776|PMID:19480318|PMID:19715473|PMID:20301495|PMID:20307994|PMID:20462274|PMID:21484869|PMID:22326532|PMID:22350544|PMID:22593002|PMID:22727569|PMID:24374108|PMID:24571530|PMID:24770567|PMID:24772966|PMID:24995870|PMID:25255367|PMID:25333063|PMID:25381949|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25748408|PMID:26232051|PMID:26239723|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27629047|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:28830848|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31112740|PMID:31119508|PMID:31251765|PMID:31523617|PMID:31610500|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:32778825|PMID:32812330|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:34883003|PMID:35281663|PMID:37421976|PMID:8161368|PMID:8312380|PMID:8430702|PMID:9375800|PMID:9536098
12091908	BCKDHB	branched chain keto acid dehydrogenase E1 subunit beta	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1351460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:11448970|PMID:11509994|PMID:14517957|PMID:14567968|PMID:14742428|PMID:15884622|PMID:16199547|PMID:16468966|PMID:16786533|PMID:17576681|PMID:18378174|PMID:19480318|PMID:19715473|PMID:22326532|PMID:22593002|PMID:22727569|PMID:24772966|PMID:25333063|PMID:25381949|PMID:25640679|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26786177|PMID:26830710|PMID:27507644|PMID:27682710|PMID:28197878|PMID:28417071|PMID:28492532|PMID:29306928|PMID:29307017|PMID:29740478|PMID:29740775|PMID:29753318|PMID:30228974|PMID:30298499|PMID:31119508|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32515140|PMID:33131499|PMID:33300147|PMID:33955723|PMID:34556729|PMID:37421976|PMID:8161368|PMID:9536098
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:1115	sarcoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:1909	melanoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:3133	acute porphyria		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Porphyria	PMID:28492532
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:3890	acute intermittent porphyria		ISO	RGD:1321507	D	RGD:9068941	20260521	RGD		DNA:missense mutation:exon:p.R59W (mouse)	PMID:11929050|REF_RGD_ID:4145363
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISO	RGD:1321506	D	RGD:7240710	20180207	OMIM			
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:4346	variegate porphyria		ISO	RGD:1321506	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PPOX-related condition | ClinVar Annotator: match by term: VARIEGATE PORPHYRIA | ClinVar Annotator: match by term: Variegate Porphyria | ClinVar Annotator: match by term: Variegate porphyria | ClinVar Annotator: match by term: variegate porphyria	PMID:10486317|PMID:10870850|PMID:11286631|PMID:11298551|PMID:11929051|PMID:12380696|PMID:12655566|PMID:12922165|PMID:16433813|PMID:18570668|PMID:1946837|PMID:21048046|PMID:21910705|PMID:23324528|PMID:23409300|PMID:23430901|PMID:24997713|PMID:25741868|PMID:27982422|PMID:28492532|PMID:30385147|PMID:33159949|PMID:8852667|PMID:9829909
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:4362	cervical cancer		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:630	genetic disease		ISO	RGD:1321506	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10486317|PMID:11474578|PMID:11929051|PMID:12859407|PMID:21048046|PMID:24073655|PMID:25741868|PMID:28492532|PMID:9763307
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:6364	migraine		ISO	RGD:1321506	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9001581	Constipation		ISO	RGD:1321506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.G232R (human)	PMID:8852667|REF_RGD_ID:1599172
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:multiple (human)	PMID:10486317|REF_RGD_ID:1599176
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321506	D	RGD:9068941	20200609	RGD		DNA:transition:cds:p.R59W (human)	PMID:9254745|REF_RGD_ID:1599174
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:1321507	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, kidney (mouse)	PMID:9431441|REF_RGD_ID:4145281
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9007255	Variegate Porphyria, Childhood-Onset		ISO	RGD:1321506	D	RGD:7240710	20230906	OMIM			
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9007255	Variegate Porphyria, Childhood-Onset		ISO	RGD:1321506	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: VARIEGATE PORPHYRIA, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Variegate porphyria, childhood-onset	PMID:12699245|PMID:12922165|PMID:21048046|PMID:21910705|PMID:23409300|PMID:25741868|PMID:28492532|PMID:33159949|PMID:8673113|PMID:8817334|PMID:9540991|PMID:9811936
12091939	PPOX	protoporphyrinogen oxidase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:0060058	lymphoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:1324	lung cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344294	D	RGD:9068941	20200609	RGD		DNA:amplification (human)	PMID:19145645|REF_RGD_ID:2317557
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:5419	schizophrenia		ISO	RGD:1344294	D	RGD:9068941	20200609	RGD		protein:decreased expression:prefrontal cortex (human)	PMID:15098003|REF_RGD_ID:11571619
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091955	ARPC1A	actin related protein 2/3 complex subunit 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1343381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:0070246	X-linked Emery-Dreifuss muscular dystrophy 1		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, tardive, Dreifuss-Emery type, with contractures	PMID:28492532
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:28492532
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:9536098
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159|PMID:9536098
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy	severity	ISO	RGD:1550518	D	RGD:9068941	20200609	RGD			PMID:22541428|REF_RGD_ID:10044242
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:3911	progeria	severity	ISO	RGD:1550518	D	RGD:9068941	20200609	RGD			PMID:22541428|REF_RGD_ID:10044242
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12091969	SUN1	Sad1 and UNC84 domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092018	LRRTM1	leucine rich repeat transmembrane neuronal 1	gene	DOID:5419	schizophrenia		ISO	RGD:1622254	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:1324	lung cancer		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:2661	myoepithelioma		ISO	RGD:1606974	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:3070	high grade glioma		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092029	FAM168B	family with sequence similarity 168 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606974	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050847	sleep apnea		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316702	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:30504930|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0060058	lymphoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0060249	scoliosis		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:22405089|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0060260	ptosis		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:10361086|PMID:17576681|PMID:22405089|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0060313	tracheomalacia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:7240710	20180725	OMIM			
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES	PMID:10361086|PMID:15057123|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25249037|PMID:25326635|PMID:25326637|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30504930|PMID:31132234|PMID:32860008|PMID:33098347|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES	PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24033266|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES	PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24033266|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25326635|PMID:25363768|PMID:25473036|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26506440|PMID:26822237|PMID:27474218|PMID:27570168|PMID:27824329|PMID:28323383|PMID:28492532|PMID:28708303|PMID:29286531|PMID:30349098|PMID:30459321|PMID:30504930|PMID:31132234|PMID:31164752|PMID:32860008|PMID:33098347|PMID:33619735|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARID1B-Related Disorder | ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related condition | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 1 | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12	PMID:16199547|PMID:1724113|PMID:17576681|PMID:18414213|PMID:21163964|PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:22820256|PMID:22832583|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:24674232|PMID:25217958|PMID:25249037|PMID:25363768|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26376624|PMID:27112773|PMID:27391121|PMID:27474218|PMID:27570168|PMID:27993330|PMID:28120103|PMID:28252636|PMID:28323383|PMID:28492532|PMID:28708303|PMID:28726809|PMID:28726821|PMID:29286531|PMID:29758562|PMID:30349098|PMID:30459321|PMID:30587507|PMID:31132234|PMID:31164752|PMID:31406558|PMID:31530938|PMID:32161024|PMID:32277047|PMID:32860008|PMID:33584783|PMID:33619735|PMID:33768696|PMID:33949667|PMID:34374989|PMID:34706719|PMID:34906459|PMID:34906496|PMID:35904121|PMID:36413997|PMID:37432431|PMID:37500730|PMID:39355979|PMID:39726094|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:23815551|PMID:23906836|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0080087	nonsyndromic congenital nail disorder 9		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nail dysplasia	PMID:25741868|PMID:30349098|PMID:34706719
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22820256|PMID:22832583|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28708303|PMID:28726821|PMID:30898143|PMID:33619735|PMID:33949667
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:22426309|PMID:25533962|PMID:25741868|PMID:26350204|PMID:27474218|PMID:28492532|PMID:28726809|PMID:30349098|PMID:32277047|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0081441	Nicolaides-Baraitser syndrome		ISO	RGD:1316702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nicolaides-Baraitser syndrome	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0090012	severe combined immunodeficiency with sensitivity to ionizing radiation		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION | ClinVar Annotator: match by term: Severe combined immunodeficiency due to DCLRE1C deficiency	PMID:25533962|PMID:25741868|PMID:27474218|PMID:28492532|PMID:28726809|PMID:30349098|PMID:32277047|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:22426309|PMID:25741868|PMID:26350204
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:22426309|PMID:24674232|PMID:25674384|PMID:25741868|PMID:26350204|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10348	blepharophimosis		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:24674232|PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10376	amblyopia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1316702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1316702	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:26637902|REF_RGD_ID:126848744
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: moderate intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:15057123|PMID:17576681|PMID:22405089|PMID:23160955|PMID:23806086|PMID:23815551|PMID:23906836|PMID:24088041|PMID:24674232|PMID:25249037|PMID:25363768|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:33768696|PMID:35101336|PMID:35904121|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: moderate intellectual disability	PMID:17576681|PMID:22405089|PMID:23160955|PMID:23815551|PMID:23906836|PMID:24674232|PMID:25249037|PMID:25363768|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:33768696|PMID:35101336|PMID:35904121|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1316702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: moderate intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:17576681|PMID:22405089|PMID:23160955|PMID:23815551|PMID:23906836|PMID:24674232|PMID:25249037|PMID:25363768|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31164752|PMID:31406558|PMID:33768696|PMID:35101336|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10763	hypertension	treatment	ISO	RGD:708504	D	RGD:9068941	20200609	RGD			PMID:17489020|REF_RGD_ID:9587762
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10907	microcephaly		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:10908	hydrocephalus		ISO	RGD:1316703	D	RGD:9068941	20200609	RGD			PMID:28867767|REF_RGD_ID:13439722
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11111	hydronephrosis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1115	sarcoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11383	cryptorchidism		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism | ClinVar Annotator: match by term: Cryptorchidism | ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:10361086|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25363768|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:31164752|PMID:35101336
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1143	exotropia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic ovaries	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11782	astigmatism		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11830	myopia		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:25249037|PMID:25363768|PMID:25674384|PMID:25741868|PMID:27112773|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:33768696|PMID:35904121|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:11836	clubfoot		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1205	allergic disease		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:12215	oligohydramnios		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:12639	pyloric stenosis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:12698	gynecomastia		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1283	enterocele		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:12849	autistic disorder		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:10361086|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1324	lung cancer		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:13620	patent foramen ovale		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:13938	amenorrhea		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:23815551|PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:35101336
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1459	hypothyroidism		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1682	congenital heart disease		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:17576681|PMID:22405089|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1686	glaucoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1824	status epilepticus		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1826	epilepsy		ISO	RGD:1316702	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:15057123|PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1826	epilepsy		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17576681|PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:25674384|PMID:25741868|PMID:26350204|PMID:27112773|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1909	melanoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1316702	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Coffin Siris Syndrome | ClinVar Annotator: match by term: Coffin Siris syndrome | ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26376624|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:2340	craniosynostosis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Craniosynostosis | ClinVar Annotator: match by term: Trigonocephaly	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:2340	craniosynostosis		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:2355	anemia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:238	pupil disease		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marcus Gunn pupil	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:2841	asthma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1316702	D	RGD:8554872	20250422	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3070	high grade glioma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3275	thymoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3490	Noonan syndrome		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316702	D	RGD:9068941	20210507	RGD		DNA:mutations	PMID:32791957|REF_RGD_ID:126848874
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:420	hypertrichosis		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868|PMID:30349098|PMID:34706719|PMID:35101336
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:18414213|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:540	strabismus		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:22405089|PMID:22426309|PMID:25741868|PMID:26350204|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:552	pneumonia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:23929686
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:557	kidney disease		ISO	RGD:1316702	D	RGD:9068941	20200609	RGD			PMID:14633620|REF_RGD_ID:1302474
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:5723	optic atrophy		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18414213|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:630	genetic disease		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10361086|PMID:15057123|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25326635|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26411299|PMID:27391121|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:31981384|PMID:32170002|PMID:32369273|PMID:33768696|PMID:34440449|PMID:34706719|PMID:34730517|PMID:34775996|PMID:35904121|PMID:35982159|PMID:36352633|PMID:37500730|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:630	genetic disease		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10361086|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26411299|PMID:27391121|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:31981384|PMID:32170002|PMID:32369273|PMID:33768696|PMID:34440449|PMID:34706719|PMID:34730517|PMID:34775996|PMID:35904121|PMID:35982159|PMID:36352633|PMID:37500730|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:630	genetic disease		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10361086|PMID:17576681|PMID:18414213|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23160955|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25249037|PMID:25356970|PMID:25363768|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:26411299|PMID:27391121|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:29504208|PMID:30349098|PMID:30587507|PMID:31164752|PMID:31406558|PMID:31981384|PMID:32170002|PMID:32369273|PMID:33768696|PMID:34440449|PMID:34706719|PMID:34730517|PMID:34775996|PMID:35904121|PMID:35982159|PMID:36352633|PMID:36413997|PMID:37500730|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:674	cleft palate		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22634756
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:769	neuroblastoma		ISO	RGD:1316702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202128
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:769	neuroblastoma		ISO	RGD:1316702	D	RGD:9068941	20200609	RGD		DNA:deletion,haploinsufficiency: :	PMID:23202128|REF_RGD_ID:13439724
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9000053	Headache		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17576681|PMID:22405089|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9000221	Epiblepharon of Upper Lid		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiblepharon of lower lid	PMID:25533962|PMID:25741868|PMID:27474218|PMID:28492532|PMID:28726809|PMID:30349098|PMID:32277047|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001031	Retrognathia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:22405089|PMID:22426309|PMID:25533962|PMID:25741868|PMID:26350204|PMID:27474218|PMID:28323383|PMID:28492532|PMID:28726809|PMID:29286531|PMID:30349098|PMID:31406558|PMID:32277047|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001581	Constipation		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:17576681|PMID:22405089|PMID:23929686|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:17576681|PMID:22405089|PMID:23815551|PMID:23906836|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9002112	Wiedemann-Steiner syndrome		ISO	RGD:1316702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wiedemann-Steiner syndrome	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9002805	Enterocolitis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocolitis	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9002969	Nevus		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:23929686
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9003132	Sialorrhea		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: drooling	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:17576681|PMID:22405089|PMID:23929686|PMID:25674384|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9003507	Premature Birth		ISO	RGD:1316702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9003671	Hypoventilation		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoventilation	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:23929686
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1316702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: patellar dislocation	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316702	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098|PMID:35904121|PMID:35982159|PMID:35982160|PMID:37500730
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004507	Hirsutism		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:25674384|PMID:25741868|PMID:27112773|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004552	Genu Varum		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	PMID:25674384|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004866	Ataxia		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:23815551|PMID:23906836|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9004992	Apnea		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005077	Joint Instability		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23815551|PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10361086|PMID:15057123|PMID:17576681|PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25217958|PMID:25326635|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:27112773|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10361086|PMID:17576681|PMID:21801163|PMID:22405089|PMID:22426308|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25217958|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:27112773|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:30349098|PMID:31406558|PMID:33768696|PMID:34706719|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9005616	Micrognathism		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:10361086|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9006617	Fatigue		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25533962|PMID:25741868|PMID:27474218|PMID:28492532|PMID:28726809|PMID:30349098|PMID:32277047|PMID:33768696
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007573	Flatfoot		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868|PMID:30587507|PMID:35904121
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007661	Dwarfism		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10361086|PMID:17576681|PMID:22405089|PMID:22426309|PMID:23815551|PMID:23906836|PMID:23929686|PMID:25473036|PMID:25674384|PMID:25741868|PMID:26350204|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Simple febrile seizure	PMID:23815551|PMID:23906836|PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17576681|PMID:22405089|PMID:22426309|PMID:23815551|PMID:23906836|PMID:25217958|PMID:25533962|PMID:25674384|PMID:25741868|PMID:25741885|PMID:26350204|PMID:27474218|PMID:28323383|PMID:28492532|PMID:28726809|PMID:29286531|PMID:30349098|PMID:30587507|PMID:31406558|PMID:32277047|PMID:33768696|PMID:34706719|PMID:35101336|PMID:35904121|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1316702	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008689	Facial Hypertrichosis		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypertrichosis	PMID:25741868
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:25674384|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:930	orbital disease		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25674384|PMID:25741868|PMID:28492532|PMID:30349098
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:22426309|PMID:25741868|PMID:26350204
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:22426309|PMID:23929686|PMID:25741868|PMID:26350204
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9840	esotropia		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia | ClinVar Annotator: match by term: crossed eyes	PMID:22426309|PMID:25741868|PMID:26350204
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:987	alopecia		ISO	RGD:1316702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	
12092042	ARID1B	AT-rich interaction domain 1B	gene	DOID:9970	obesity		ISO	RGD:1316702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:17576681|PMID:22405089|PMID:25741868|PMID:27474218|PMID:28323383|PMID:28492532|PMID:29286531|PMID:31406558|PMID:33768696|PMID:9536098
12092042	Arid1b	AT-rich interaction domain 1B	gene	DOID:326	ischemia		ISO	RGD:708504	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:renal medulla, cortex of kidney	PMID:14633620|REF_RGD_ID:1302474
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:734403	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease, adult type	PMID:25741868
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:1324	lung cancer		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:3275	thymoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:734403	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:557	kidney disease		ISO	RGD:734403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21572414
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:630	genetic disease		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10471498|PMID:11157794|PMID:11260385|PMID:12234930|PMID:12239244|PMID:12820697|PMID:15635077|PMID:18414213|PMID:19782624|PMID:22480232|PMID:25109415|PMID:25296721|PMID:25741868|PMID:25777271|PMID:25964309|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:34805638|PMID:40794449
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:9266	cystinuria		IAGP		D	RGD:12801476	20250514	OMIA		Cystinuria, type II - B	PMID:16845473|PMID:24001348|PMID:34438894|PMID:26002797|PMID:36971195|PMID:27388977|PMID:40298126
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:9266	cystinuria		ISO	RGD:734403	D	RGD:7240710	20180130	OMIM			
12092066	SLC7A9	solute carrier family 7 member 9	gene	DOID:9266	cystinuria		ISO	RGD:734403	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTINURIA | ClinVar Annotator: match by term: Cystine Urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: Cystinuria, non-type I | ClinVar Annotator: match by term: SLC7A9-related condition	PMID:10471498|PMID:11157794|PMID:11260385|PMID:12234283|PMID:12234930|PMID:12239244|PMID:12371955|PMID:12820697|PMID:15635077|PMID:15670723|PMID:16138908|PMID:16199547|PMID:16225397|PMID:16374432|PMID:16609684|PMID:16838140|PMID:17576681|PMID:18414213|PMID:19782624|PMID:20052367|PMID:21255007|PMID:22480232|PMID:23532419|PMID:25109415|PMID:25296721|PMID:25599739|PMID:25741868|PMID:25777271|PMID:25964309|PMID:26123750|PMID:28492532|PMID:28646536|PMID:28717662|PMID:28812535|PMID:32133030|PMID:33349102|PMID:33377691|PMID:33532864|PMID:34758253|PMID:34805638|PMID:34906519|PMID:35149915|PMID:36571637|PMID:37306718|PMID:40794449|PMID:41006421|PMID:9536098
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:0070297	primary microcephaly		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:11720	distal myopathy		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:12215	oligohydramnios		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:2513	basal cell carcinoma		ISO	RGD:731485	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:7319	axonal neuropathy		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:8488	polyhydramnios		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:9003507	Premature Birth		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092083	SH3BP4	SH3 domain binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:1324	lung cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:3275	thymoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092095	SLC37A1	solute carrier family 37 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318445	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12092125	WDR53	WD repeat domain 53	gene	DOID:1115	sarcoma		ISO	RGD:1344468	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092125	WDR53	WD repeat domain 53	gene	DOID:4362	cervical cancer		ISO	RGD:1344468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092125	WDR53	WD repeat domain 53	gene	DOID:5041	esophageal cancer		ISO	RGD:1344468	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092125	WDR53	WD repeat domain 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:1324	lung cancer		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:1909	melanoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092143	GORASP2	golgi reassembly stacking protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092157	F12	coagulation factor XII	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		DNA:polymorphism::46C>T(human)	PMID:15232129|REF_RGD_ID:11041862
12092157	F12	coagulation factor XII	gene	DOID:0060002	C1 inhibitor deficiency		ISO	RGD:11666274	D	RGD:9068941	20260709	ClinVar		ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY	PMID:25741868|PMID:28492532
12092157	F12	coagulation factor XII	gene	DOID:0060903	thrombosis		ISO	RGD:1345372	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
12092157	F12	coagulation factor XII	gene	DOID:0080940	hereditary angioedema type III		ISO	RGD:1345372	D	RGD:7240710	20180130	OMIM			
12092157	F12	coagulation factor XII	gene	DOID:0080940	hereditary angioedema type III		ISO	RGD:1345372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, TYPE III | ClinVar Annotator: match by term: F12-related condition | ClinVar Annotator: match by term: HAE WITH NORMAL C1 INHIBITOR CONCENTRATION AND FUNCTION	PMID:17576681|PMID:18974842|PMID:19933701|PMID:21264442|PMID:21690105|PMID:21849258|PMID:21920016|PMID:23188048|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25113305|PMID:25524745|PMID:25741868|PMID:25744496|PMID:26286125|PMID:27130860|PMID:28483295|PMID:28492532|PMID:29587641|PMID:33727708|PMID:37307703|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:0080941	acquired angioedema	disease_progression	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12092157	F12	coagulation factor XII	gene	DOID:10534	stomach cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:10763	hypertension		ISO	RGD:1345372	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:6383834
12092157	F12	coagulation factor XII	gene	DOID:1115	sarcoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092157	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema		ISO	RGD:1345372	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:19477491
12092157	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema		ISO	RGD:1345372	D	RGD:9068941	20260709	RGD		DNA:deletion mutations:exon,intron:	PMID:21849258|REF_RGD_ID:11041802
12092157	F12	coagulation factor XII	gene	DOID:14735	hereditary angioedema	disease_progression	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12092157	F12	coagulation factor XII	gene	DOID:1558	angioedema		ISO	RGD:1345372	D	RGD:9068941	20260521	RGD		DNA:missense:exon:T309K,T309R	PMID:16638441|REF_RGD_ID:1601106
12092157	F12	coagulation factor XII	gene	DOID:1909	melanoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:7240710	20180130	OMIM			
12092157	F12	coagulation factor XII	gene	DOID:2231	factor XII deficiency		ISO	RGD:1345372	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: F12 deficiency | ClinVar Annotator: match by term: Factor XII deficiency disease	PMID:17576681|PMID:21264442|PMID:21920016|PMID:23348723|PMID:24029428|PMID:24033266|PMID:25524745|PMID:25741868|PMID:28492532|PMID:29587641|PMID:33727708|PMID:37307703|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1552499	D	RGD:9068941	20200609	RGD			PMID:16533887|REF_RGD_ID:11041786
12092157	F12	coagulation factor XII	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:16533887|REF_RGD_ID:11041786
12092157	F12	coagulation factor XII	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:2394	ovarian cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12092157	F12	coagulation factor XII	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1552499	D	RGD:9068941	20200609	RGD			PMID:16533887|REF_RGD_ID:11041786
12092157	F12	coagulation factor XII	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:16533887|REF_RGD_ID:11041786
12092157	F12	coagulation factor XII	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092157	F12	coagulation factor XII	gene	DOID:4362	cervical cancer		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:5041	esophageal cancer		ISO	RGD:1345372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-46C>T(human)	PMID:16411408|REF_RGD_ID:11041803
12092157	F12	coagulation factor XII	gene	DOID:630	genetic disease		ISO	RGD:1345372	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12092157	F12	coagulation factor XII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		protein:decreased activity::	PMID:18021303|REF_RGD_ID:11041785
12092157	F12	coagulation factor XII	gene	DOID:9000543	Death		ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:17388965|REF_RGD_ID:11041782
12092157	F12	coagulation factor XII	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1345372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12092157	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16009717
12092157	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345372	D	RGD:9068941	20200609	RGD			PMID:16009717|REF_RGD_ID:11041771
12092157	F12	coagulation factor XII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1552499	D	RGD:9068941	20200609	RGD			PMID:16009717|REF_RGD_ID:11041771
12092157	F12	coagulation factor XII	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		protein:decreased activity: :	PMID:24597288|REF_RGD_ID:11041799
12092157	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deep vein thrombosis	PMID:25741868
12092157	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		DNA:polymorphism::46C>T(human)	PMID:15116249|REF_RGD_ID:11041808
12092157	F12	coagulation factor XII	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		associated with Pregnancy Complications; DNA:polymorphism::46C>T(human)	PMID:20141580|REF_RGD_ID:11041858
12092157	F12	coagulation factor XII	gene	DOID:9005930	Endotoxemia		ISO	RGD:1359175	D	RGD:9068941	20200609	RGD			PMID:11092686|REF_RGD_ID:7394782
12092157	F12	coagulation factor XII	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:21920016|PMID:23348723|PMID:24029428|PMID:25524745|PMID:25741868|PMID:28492532|PMID:33727708|PMID:8528215|PMID:9354665|PMID:9536098
12092157	F12	coagulation factor XII	gene	DOID:9008217	Hemorrhage		ISO	RGD:1345372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bleeding | ClinVar Annotator: match by term: bleeding	PMID:25741868
12092157	F12	coagulation factor XII	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:1359175	D	RGD:9068941	20200609	RGD			PMID:16046705|REF_RGD_ID:1601105
12092157	F12	coagulation factor XII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345372	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:7974333|REF_RGD_ID:2312416
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:733374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26599507
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0050474	Netherton syndrome		ISO	RGD:733374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20657595
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17163404|REF_RGD_ID:2315089
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0060720	autosomal recessive congenital ichthyosis 11		ISO	RGD:733374	D	RGD:7240710	20180130	OMIM			
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0060720	autosomal recessive congenital ichthyosis 11		ISO	RGD:733374	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 11 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11 | ClinVar Annotator: match by term: ST14-related condition	PMID:25741868|PMID:28492532|PMID:29611532
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:0080600	COVID-19		ISO	RGD:733374	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:10534	stomach cancer		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:1115	sarcoma		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:733375	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:1324	lung cancer		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:1697	ichthyosis		ISO	RGD:733374	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:2999	granulosa cell tumor		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:16439987|REF_RGD_ID:2315091
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:4441	dysgerminoma		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:16439987|REF_RGD_ID:2315091
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:16501837|REF_RGD_ID:2315090
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:5041	esophageal cancer		ISO	RGD:733374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:630	genetic disease		ISO	RGD:733374	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18813126|REF_RGD_ID:2315088
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms	PMID:19443387|REF_RGD_ID:2315087
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:17456594|REF_RGD_ID:2315092
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:18813126|REF_RGD_ID:2315088
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9002189	High Myopia		ISO	RGD:733374	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18813126|REF_RGD_ID:2315088
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:16439987|REF_RGD_ID:2315091
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9003373	Uterine Cervical Neoplasms	severity	ISO	RGD:733374	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:uterine cervix	PMID:16021568|REF_RGD_ID:2315093
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:733374	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms;protein:increased expression:ovary	PMID:16439987|REF_RGD_ID:2315091
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:19443387|REF_RGD_ID:2315087
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:733374	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17163404|REF_RGD_ID:2315089
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092181	ST14	ST14 transmembrane serine protease matriptase	gene	DOID:9256	colorectal cancer		ISO	RGD:733374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:1324	lung cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1606804	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092202	NOC2L	NOC2 like nucleolar associated transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606804	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:0060277	pontocerebellar hypoplasia type 8		ISO	RGD:1346526	D	RGD:7240710	20180130	OMIM			
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:0060277	pontocerebellar hypoplasia type 8		ISO	RGD:1346526	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CHMP1A-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 8 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 8 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 8	PMID:18414213|PMID:23023333|PMID:25741868|PMID:28492532|PMID:30315573|PMID:33528536
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:1059	intellectual disability		ISO	RGD:1346526	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:10908	hydrocephalus		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:11836	clubfoot		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:1324	lung cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:540	strabismus		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:630	genetic disease		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:8488	polyhydramnios		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12092227	CHMP1A	charged multivesicular body protein 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:30628072
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354337	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dysmorphic features	PMID:25741868
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0112045	non-syndromic X-linked intellectual disability 93		ISO	RGD:1354337	D	RGD:7240710	20180130	OMIM			
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:0112045	non-syndromic X-linked intellectual disability 93		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: BRWD3-Related Disorder | ClinVar Annotator: match by term: BRWD3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 93 | ClinVar Annotator: match by term: Intellectual disability, X-linked 93 | ClinVar Annotator: match by term: Mental retardation, X-linked 93 | ClinVar Annotator: match by term: X-linked intellectual developmental disorder-93	PMID:17668385|PMID:23425632|PMID:24462886|PMID:25326637|PMID:25741868|PMID:28492532|PMID:30628072|PMID:31714006|PMID:36414205|PMID:36514184|PMID:39283677
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:1059	intellectual disability		ISO	RGD:1354337	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:2468	psychotic disorder		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:2841	asthma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:4428	dyslexia		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:630	genetic disease		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:36414205|PMID:9536098
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:6364	migraine		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:6543	acne		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9000053	Headache		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9001224	Striae Distensae		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9001581	Constipation		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354337	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:36937954
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12092238	BRWD3	bromodomain and WD repeat domain containing 3	gene	DOID:9970	obesity		ISO	RGD:1354337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:10534	stomach cancer		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:1205	allergic disease		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16979157|REF_RGD_ID:1626088
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:736610	D	RGD:9068941	20200609	RGD			PMID:10913167|REF_RGD_ID:8548674
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:2349	arteriosclerosis		ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16127462|REF_RGD_ID:1626081
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:289	endometriosis		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25446850
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:4195	hyperglycemia		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, liver	PMID:17211565|REF_RGD_ID:1626079
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:4362	cervical cancer		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:4500	hypokalemia		ISO	RGD:2092	D	RGD:9068941	20200609	RGD			PMID:17409277|REF_RGD_ID:1626084
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:5041	esophageal cancer		ISO	RGD:732178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:21683810|REF_RGD_ID:5509919
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732178	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:19422879|REF_RGD_ID:8548685
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:83	cataract		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		associated with Galactosemia	PMID:17444799|REF_RGD_ID:1626083
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:83	cataract		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21329682|PMID:21376710|PMID:25541468|PMID:28137510
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:83	cataract		ISO	RGD:732178	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21329682|REF_RGD_ID:8548638
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:83	cataract	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.(AC)n (human)	PMID:24360973|REF_RGD_ID:8548672
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:83	cataract	treatment	ISO	RGD:2092	D	RGD:9068941	20200609	RGD			PMID:18452283|REF_RGD_ID:8548671
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17003340|REF_RGD_ID:1626080
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		protein:increased expression:retinal astrocyte (rat)	PMID:8150024|REF_RGD_ID:8548684
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:8947	diabetic retinopathy	no_association	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:promoter:repeat:g.-2008(AC)n (rs35839483) (human)	PMID:21067572|REF_RGD_ID:8548676
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:g.-106C>T (human)	PMID:16701918|REF_RGD_ID:8548668
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;DNA:repeats, snp:promoter:multiple (human)	PMID:19587357|REF_RGD_ID:8548640
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9001542	Albuminuria		ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;human gene in a rat model	PMID:12166624|REF_RGD_ID:8548813
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732178	D	RGD:9068941	20200609	RGD			PMID:9215310|REF_RGD_ID:734542
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;DNA:promoter:repeat:g.?(AC)n (human)	PMID:9000706|REF_RGD_ID:8548641
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		associated with Hyperglycemia	PMID:12505670|REF_RGD_ID:1626082
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9002661	Diabetes Complications		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25304492|PMID:25541468
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9005372	Inflammation		ISO	RGD:736610	D	RGD:9068941	20200609	RGD			PMID:17030682|REF_RGD_ID:1626087
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:8204669|REF_RGD_ID:8548781
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		protein:increased activity:heart	PMID:16567803|REF_RGD_ID:1626092
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146748
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9008609	Endotoxin-Induced Uveitis	treatment	ISO	RGD:2092	D	RGD:9068941	20200609	RGD			PMID:17898287|REF_RGD_ID:8548683
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		DNA:repeat, snp:promoter:g.(AC)n, g.-106C>T (human)	PMID:15569136|REF_RGD_ID:8548678
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9743	diabetic neuropathy		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16900242|REF_RGD_ID:1626089
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9743	diabetic neuropathy	susceptibility	ISO	RGD:732178	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;DNA:repeat:promoter:g.(CA)n (human)	PMID:9489533|REF_RGD_ID:8548642
12092288	AKR1B1	aldo-keto reductase family 1 member B	gene	DOID:9870	galactosemia		ISO	RGD:2092	D	RGD:9068941	20200609	RGD		protein:increased expression:endothelial cell, lens	PMID:16936110|REF_RGD_ID:1599728
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1347448	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6	
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5		ISO	RGD:1347448	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE	PMID:20018511|PMID:25741868|PMID:32906214
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:10907	microcephaly		ISO	RGD:1347448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28027978
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:11111	hydronephrosis		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:11836	clubfoot		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1347448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber's disease	PMID:18977334|PMID:20018511|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:32906214|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:9299505
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:10589546|PMID:11102991|PMID:11198278|PMID:11938446|PMID:12624137|PMID:1417830|PMID:14520659|PMID:14730434|PMID:15521990|PMID:16306525|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:20301353|PMID:21131053|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:32906214|PMID:9299505
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:10589546|PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:10894222|PMID:11076946|PMID:11102991|PMID:11198278|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:11938446|PMID:12624137|PMID:1417830|PMID:1436530|PMID:14520659|PMID:14730434|PMID:14735585|PMID:14998933|PMID:1539598|PMID:1550128|PMID:15521990|PMID:16306525|PMID:16380132|PMID:17003408|PMID:17264866|PMID:17317336|PMID:1732158|PMID:17400793|PMID:17452590|PMID:17535832|PMID:1764087|PMID:17940288|PMID:18246027|PMID:18332249|PMID:18524835|PMID:18977334|PMID:1900003|PMID:19667215|PMID:19875463|PMID:20301353|PMID:21131053|PMID:2137962|PMID:22022272|PMID:22780954|PMID:23463613|PMID:24088041|PMID:25701779|PMID:25741868|PMID:26633545|PMID:27422531|PMID:27450679|PMID:29602698|PMID:29987491|PMID:30143805|PMID:32313153|PMID:32906214|PMID:7654063|PMID:8016139|PMID:8042671|PMID:8095070|PMID:8250532|PMID:8395787|PMID:8622678|PMID:9199572|PMID:9221962|PMID:9299505|PMID:9329425|PMID:9556461|PMID:9883875
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11102991|PMID:11198278|PMID:15521990|PMID:17003408|PMID:17264866|PMID:17400793|PMID:17535832|PMID:17940288|PMID:18246027|PMID:18524835|PMID:18977334|PMID:20301353|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:32906214
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3652	Leigh disease		ISO	RGD:1347448	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11102991|PMID:11198278|PMID:15521990|PMID:17003408|PMID:17264866|PMID:17400793|PMID:17535832|PMID:17940288|PMID:18246027|PMID:18977334|PMID:22022272|PMID:22780954|PMID:23463613|PMID:25701779|PMID:25741868|PMID:27422531|PMID:29987491|PMID:30143805|PMID:32906214
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:3687	MELAS syndrome		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MELAS SYNDROME | ClinVar Annotator: match by term: MELAS syndrome	PMID:11102991|PMID:12509858|PMID:15767514|PMID:16816025|PMID:17940288|PMID:18332249|PMID:18977334|PMID:20018511|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:26894521|PMID:28429146|PMID:29479304|PMID:32906214|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347448	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:2507335
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620560	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:2507335|REF_RGD_ID:2302316
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1347448	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder | ClinVar Annotator: match by term: mitochondrial disorder	PMID:10589546|PMID:10590437|PMID:10660580|PMID:10676807|PMID:10889120|PMID:10894222|PMID:11076946|PMID:11102991|PMID:11198278|PMID:11371515|PMID:11730668|PMID:11751691|PMID:11843698|PMID:11925565|PMID:11938446|PMID:12509858|PMID:12624137|PMID:12736867|PMID:12796552|PMID:1436530|PMID:14520659|PMID:14730434|PMID:14735584|PMID:14735585|PMID:14998933|PMID:1539598|PMID:1550128|PMID:15521990|PMID:15767514|PMID:16306525|PMID:16380132|PMID:16816025|PMID:17317336|PMID:17400793|PMID:17452590|PMID:17940288|PMID:18332249|PMID:18977334|PMID:19667215|PMID:19875463|PMID:20018511|PMID:20301352|PMID:20301353|PMID:20301382|PMID:2137962|PMID:21749722|PMID:22249460|PMID:22426787|PMID:22577219|PMID:24088041|PMID:25741868|PMID:26633545|PMID:27015314|PMID:27164671|PMID:27450679|PMID:28503604|PMID:29408632|PMID:29602698|PMID:30143805|PMID:32045392|PMID:32313153|PMID:32652755|PMID:32906214|PMID:39825153|PMID:7654063|PMID:8016139|PMID:8042671|PMID:8095070|PMID:8213825|PMID:8250532|PMID:8395787|PMID:8622678|PMID:9199572|PMID:9221962|PMID:9299505|PMID:9329425|PMID:9556461|PMID:9883875
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1347448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: Mitochondrial disorder	PMID:11102991|PMID:12736867|PMID:17940288|PMID:18977334|PMID:20018511|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:27164671|PMID:28429146|PMID:29479304|PMID:30143805|PMID:32906214|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1347448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER OPTIC ATROPHY | ClinVar Annotator: match by term: Leber optic atrophy | ClinVar Annotator: match by term: Leber's optic atrophy	PMID:18977334|PMID:20018511|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:30143805|PMID:32906214|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9007525	Leigh Syndrome Due To Mitochondrial Complex I Deficiency		ISO	RGD:1347448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	PMID:11938446|PMID:12796552|PMID:17317336
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9007527	Mitochondrial Myopathy, Infantile, Transient		ISO	RGD:15016515	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Mitochondrial myopathy, infantile, transient	PMID:20018511|PMID:25741868
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9007827	Upper Airway Obstruction		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Upper airway obstruction	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:28027978
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9008681	Deafness		ISO	RGD:1347448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:28027978
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9220	central sleep apnea		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Central apnea	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092321	MT-ND5	mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347448	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:18977334|PMID:20818383|PMID:22249460|PMID:22577219|PMID:23918514|PMID:25741868|PMID:28429146|PMID:29479304|PMID:9506874
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0061030	hemophilia		ISO	RGD:1349191	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hemophilia	PMID:26783323|PMID:28492532|PMID:33531381|PMID:37313400
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0061161	infantile onset multisystem autoimmune disease 2		ISO	RGD:1349191	D	RGD:7240710	20190315	OMIM			
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0061161	infantile onset multisystem autoimmune disease 2		ISO	RGD:1349191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 2	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0111943	immunodeficiency 48		ISO	RGD:1349191	D	RGD:7240710	20180130	OMIM			
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0111943	immunodeficiency 48		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to ZAP70 deficiency | ClinVar Annotator: match by term: IMMUNODEFICIENCY 48 | ClinVar Annotator: match by term: ZAP70-related condition	PMID:10574909|PMID:11034358|PMID:11123350|PMID:16199547|PMID:17576681|PMID:18509675|PMID:24164480|PMID:25741868|PMID:27577878|PMID:28124082|PMID:28216435|PMID:28492532|PMID:28603521|PMID:28912049|PMID:29684201|PMID:30150660|PMID:30778343|PMID:33482200|PMID:33484432|PMID:35753512|PMID:36078131|PMID:36669607|PMID:8202712|PMID:9536098
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1349191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:11155	hypohidrosis		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:1324	lung cancer		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:3087	gingivitis		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:3459	breast carcinoma		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:4362	cervical cancer		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:5041	esophageal cancer		ISO	RGD:1349191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1349191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17767948
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:27759478|PMID:28492532|PMID:31589898|PMID:33184721|PMID:35503492|PMID:36669607|PMID:38129328|PMID:38838929
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:630	genetic disease		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349191	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:11501	D	RGD:9068941	20220825	MouseDO		OMIM:180300	
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:9003794	T Cell Immunodeficiency Primary		ISO	RGD:1349191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8124727
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:9007661	Dwarfism		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:9008421	Epistaxis		ISO	RGD:1349191	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:28492532
12092322	ZAP70	zeta chain of T cell receptor associated protein kinase 70	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092359	STAB2	stabilin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092359	STAB2	stabilin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092359	STAB2	stabilin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092359	STAB2	stabilin 2	gene	DOID:1324	lung cancer		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092359	STAB2	stabilin 2	gene	DOID:1909	melanoma		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092359	STAB2	stabilin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349105	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092359	STAB2	stabilin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092359	STAB2	stabilin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092359	STAB2	stabilin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12092359	STAB2	stabilin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092359	STAB2	stabilin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12092359	STAB2	stabilin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12092359	STAB2	stabilin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:0060036	intrinsic cardiomyopathy		ISO	RGD:1315706	D	RGD:9068941	20221110	RGD		protein:increased expression:heart (human)	PMID:27249171|REF_RGD_ID:155646134
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1315707	D	RGD:9068941	20220825	MouseDO		OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:1315707	D	RGD:9068941	20250403	RGD		mRNA:increases expression, decreases expression: cerebral cortex (mouse)	PMID:32937997|REF_RGD_ID:598099545
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:1315706	D	RGD:9068941	20220114	RGD			PMID:20164024|REF_RGD_ID:150573814
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:3275	thymoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:3393	coronary artery disease		ISO	RGD:1315706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20524934
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1315706	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:1306853	D	RGD:9068941	20220121	RGD			PMID:27538408|REF_RGD_ID:151347179
12092431	TRAF6	TNF receptor associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092431	Traf6	TNF receptor-associated factor 6	gene	DOID:11984	hypertrophic cardiomyopathy	treatment	ISO	RGD:1315707	D	RGD:9068941	20221110	RGD		protein:increased expression:heart (human)	PMID:27249171|REF_RGD_ID:155646134
12092478	CITED1	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092478	CITED1	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092478	CITED1	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:734446	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
12092478	CITED1	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092503	FIZ1	FLT3 interacting zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092503	FIZ1	FLT3 interacting zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:3275	thymoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:5041	esophageal cancer		ISO	RGD:1604507	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092598	LOC490972	transmembrane protein C17orf113	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092624	BORCS6	BLOC-1 related complex subunit 6	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:1603302	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
12092636	HGFAC	HGF activator	gene	DOID:4362	cervical cancer		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092636	HGFAC	HGF activator	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12092636	HGFAC	HGF activator	gene	DOID:5041	esophageal cancer		ISO	RGD:1350664	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092636	HGFAC	HGF activator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092636	HGFAC	HGF activator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092636	HGFAC	HGF activator	gene	DOID:8778	Crohn's disease		ISO	RGD:1350664	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
12092636	HGFAC	HGF activator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092636	HGFAC	HGF activator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092660	EDNRA	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19358946|REF_RGD_ID:4145067
12092660	EDNRA	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20083432
12092660	EDNRA	endothelin receptor type A	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737537	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-231G>A (human)	PMID:20083432|REF_RGD_ID:4892306
12092660	EDNRA	endothelin receptor type A	gene	DOID:0050855	renal fibrosis		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Ureteral obstruction;mRNA:increased expression:kidney	PMID:11078391|REF_RGD_ID:7244179
12092660	EDNRA	endothelin receptor type A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092660	EDNRA	endothelin receptor type A	gene	DOID:0051061	stroke		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17597600|REF_RGD_ID:4892584
12092660	EDNRA	endothelin receptor type A	gene	DOID:0051061	stroke		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12092660	EDNRA	endothelin receptor type A	gene	DOID:0060365	mandibulofacial dysostosis with alopecia		ISO	RGD:737537	D	RGD:7240710	20180130	OMIM			
12092660	EDNRA	endothelin receptor type A	gene	DOID:0060365	mandibulofacial dysostosis with alopecia		ISO	RGD:737537	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA | ClinVar Annotator: match by term: Mandibulofacial dysostosis with alopecia	PMID:25741868|PMID:28492532
12092660	EDNRA	endothelin receptor type A	gene	DOID:10247	pleurisy		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:15107459|REF_RGD_ID:4892325
12092660	EDNRA	endothelin receptor type A	gene	DOID:10534	stomach cancer		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092660	EDNRA	endothelin receptor type A	gene	DOID:10762	portal hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17214938|REF_RGD_ID:4892595
12092660	EDNRA	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:16157796|REF_RGD_ID:1581830
12092660	EDNRA	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:20144075|REF_RGD_ID:4892284
12092660	EDNRA	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12600921
12092660	EDNRA	endothelin receptor type A	gene	DOID:10763	hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:14616768|REF_RGD_ID:1580950
12092660	EDNRA	endothelin receptor type A	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Glomerulus	PMID:12972712|REF_RGD_ID:7244242
12092660	EDNRA	endothelin receptor type A	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:737538	D	RGD:9068941	20220825	MouseDO		OMIM:192430	
12092660	EDNRA	endothelin receptor type A	gene	DOID:1682	congenital heart disease		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9811577
12092660	EDNRA	endothelin receptor type A	gene	DOID:1875	impotence		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:17420087|REF_RGD_ID:2292142
12092660	EDNRA	endothelin receptor type A	gene	DOID:1875	impotence		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18823320
12092660	EDNRA	endothelin receptor type A	gene	DOID:2841	asthma		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:17448648|PMID:18632188|REF_RGD_ID:4892288|REF_RGD_ID:4892322
12092660	EDNRA	endothelin receptor type A	gene	DOID:3275	thymoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12092660	EDNRA	endothelin receptor type A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092660	EDNRA	endothelin receptor type A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092660	EDNRA	endothelin receptor type A	gene	DOID:5844	myocardial infarction		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:12524016|REF_RGD_ID:1580948
12092660	EDNRA	endothelin receptor type A	gene	DOID:6000	congestive heart failure		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28095452
12092660	EDNRA	endothelin receptor type A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092660	EDNRA	endothelin receptor type A	gene	DOID:630	genetic disease		ISO	RGD:737537	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12092660	EDNRA	endothelin receptor type A	gene	DOID:6364	migraine		ISO	RGD:737537	D	RGD:7240710	20230505	OMIM			
12092660	EDNRA	endothelin receptor type A	gene	DOID:6364	migraine		ISO	RGD:737537	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EDNRA-related condition | ClinVar Annotator: match by term: MIGRAINE, RESISTANCE TO | ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:25741868|PMID:28492532
12092660	EDNRA	endothelin receptor type A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:15243299|PMID:20531217|REF_RGD_ID:1580949|REF_RGD_ID:4892283
12092660	EDNRA	endothelin receptor type A	gene	DOID:6432	pulmonary hypertension		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:18506008|PMID:20562228|REF_RGD_ID:4144877|REF_RGD_ID:4892320
12092660	EDNRA	endothelin receptor type A	gene	DOID:850	lung disease	severity	ISO	RGD:737537	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:20028935|REF_RGD_ID:4892286
12092660	EDNRA	endothelin receptor type A	gene	DOID:9000918	Disease Progression		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194819
12092660	EDNRA	endothelin receptor type A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737538	D	RGD:9068941	20200609	RGD		associated with Bladder Neoplasms	PMID:21183790|REF_RGD_ID:4892282
12092660	EDNRA	endothelin receptor type A	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21191784|REF_RGD_ID:4892326
12092660	EDNRA	endothelin receptor type A	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:9649553|REF_RGD_ID:734910
12092660	EDNRA	endothelin receptor type A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25194819
12092660	EDNRA	endothelin receptor type A	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17032313
12092660	EDNRA	endothelin receptor type A	gene	DOID:9005372	Inflammation		ISO	RGD:737538	D	RGD:9068941	20200609	RGD			PMID:18632188|REF_RGD_ID:4892288
12092660	EDNRA	endothelin receptor type A	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:20690982|REF_RGD_ID:4892336
12092660	EDNRA	endothelin receptor type A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092660	EDNRA	endothelin receptor type A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737537	D	RGD:9068941	20200609	RGD			PMID:14729387|REF_RGD_ID:1580946
12092660	EDNRA	endothelin receptor type A	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:12799311|REF_RGD_ID:1581841
12092660	EDNRA	endothelin receptor type A	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:18586023|REF_RGD_ID:4892580
12092660	EDNRA	endothelin receptor type A	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:18600494|REF_RGD_ID:4892579
12092660	EDNRA	endothelin receptor type A	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17294360|PMID:9811577
12092660	EDNRA	endothelin receptor type A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092660	EDNRA	endothelin receptor type A	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10693666|PMID:9473106
12092660	EDNRA	endothelin receptor type A	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19371338|REF_RGD_ID:4892572
12092660	EDNRA	endothelin receptor type A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2535	D	RGD:9068941	20200609	RGD		protein:increased expression:mesenteric artery	PMID:19286964|REF_RGD_ID:2313280
12092660	EDNRA	endothelin receptor type A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737537	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16387788
12092660	EDNRA	endothelin receptor type A	gene	DOID:9675	pulmonary emphysema		ISO	RGD:2535	D	RGD:9068941	20200609	RGD			PMID:19897563|REF_RGD_ID:4892307
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:7240710	20180130	OMIM			
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:0081274	peroxisome biogenesis disorder 14B		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 14B | ClinVar Annotator: match by term: PEX11B-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 14B	PMID:25741868|PMID:28129423|PMID:28492532
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:630	genetic disease		ISO	RGD:1321208	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:83	cataract		ISO	RGD:1321208	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital Cataract	
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:9000495	Tremor		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:10704444|PMID:20826455|PMID:25741868|PMID:28129423|PMID:34234304
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321208	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:22581968|PMID:25741868|PMID:26233629|PMID:28129423|PMID:28492532|PMID:31724321
12092681	PEX11B	peroxisomal biogenesis factor 11 beta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321209	D	RGD:9068941	20250703	MouseDO		OMIM:214100	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070221	progressive familial intrahepatic cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive familial intrahepatic cholestasis	PMID:10323248|PMID:14976163|PMID:15239083|PMID:18937870|PMID:19381753|PMID:19731236|PMID:19918981|PMID:20232290|PMID:23060447|PMID:25315773|PMID:25741868|PMID:26382629|PMID:26756876|PMID:26858187|PMID:28045770|PMID:28492532|PMID:31450232|PMID:33437900|PMID:33666275|PMID:34016879|PMID:34543749|PMID:9500542
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070223	progressive familial intrahepatic cholestasis 3		ISO	RGD:1318284	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070226	progressive familial intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:7240710	20180130	OMIM			
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070226	progressive familial intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Byler disease | ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1	PMID:15239083|PMID:15317749|PMID:15888793|PMID:1774530|PMID:18668687|PMID:18785905|PMID:19381753|PMID:19479804|PMID:20301474|PMID:24260417|PMID:25741868|PMID:26823041|PMID:27050426|PMID:28492532|PMID:28733223|PMID:29238877|PMID:33437900|PMID:33666275|PMID:34679599|PMID:34828443|PMID:34942279|PMID:35232966|PMID:40869443|PMID:9500542
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070227	intrahepatic cholestasis of pregnancy		ISO	RGD:1318284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070228	intrahepatic cholestasis of pregnancy 1		ISO	RGD:1318284	D	RGD:7240710	20180912	OMIM			
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070228	intrahepatic cholestasis of pregnancy 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHOLESTASIS, PREGNANCY-RELATED, 1 | ClinVar Annotator: match by term: Cholestasis, intrahepatic, of pregnancy, 1	PMID:15239083|PMID:20232290|PMID:22525741|PMID:25421123|PMID:25741868|PMID:26678486|PMID:28039895|PMID:28492532|PMID:29238877|PMID:32942997|PMID:33070363|PMID:33915153|PMID:37697751
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070231	benign recurrent intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:7240710	20180912	OMIM			
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:0070231	benign recurrent intrahepatic cholestasis 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Summerskill syndrome	PMID:15239083|PMID:15317749|PMID:18668687|PMID:20232290|PMID:20301474|PMID:22525741|PMID:25421123|PMID:25741868|PMID:26678486|PMID:27050426|PMID:28045770|PMID:28492532|PMID:28733223|PMID:29654655|PMID:31160058|PMID:33666275|PMID:34016879|PMID:34283821|PMID:35232966|PMID:35535061|PMID:37361697|PMID:37697751|PMID:39768432|PMID:40851490|PMID:9500542
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:10534	stomach cancer		ISO	RGD:1318284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:23033845
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:1115	sarcoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:13250	diarrhea		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:13580	cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:26678486
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1318284	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATP8B1-related disorder | ClinVar Annotator: match by term: Familial intrahepatic cholestasis | ClinVar Annotator: match by term: Intrahepatic cholestasis | ClinVar Annotator: match by term: Progressive intrahepatic cholestasis	PMID:10323248|PMID:11093741|PMID:11815775|PMID:12149765|PMID:14976163|PMID:15239083|PMID:15317749|PMID:15657619|PMID:15888793|PMID:17576681|PMID:1774530|PMID:18379143|PMID:18668687|PMID:18785905|PMID:18937870|PMID:19381753|PMID:19479804|PMID:19731236|PMID:19918981|PMID:20038848|PMID:20232290|PMID:20301474|PMID:21342337|PMID:21404481|PMID:22525741|PMID:24164717|PMID:24260417|PMID:24627769|PMID:25315773|PMID:25383786|PMID:25421123|PMID:25737299|PMID:25741868|PMID:26126923|PMID:26382629|PMID:26678486|PMID:26756876|PMID:26823041|PMID:27050426|PMID:27323140|PMID:27530795|PMID:27534385|PMID:28045770|PMID:28492532|PMID:28733223|PMID:28776642|PMID:28924228|PMID:28937026|PMID:29104077|PMID:29238877|PMID:29654655|PMID:30366773|PMID:31160058|PMID:31538484|PMID:31555573|PMID:32184942|PMID:32646411|PMID:32917322|PMID:32942997|PMID:33437900|PMID:33666275|PMID:33899189|PMID:34016879|PMID:34283821|PMID:34485338|PMID:34543749|PMID:34679599|PMID:34828443|PMID:34916336|PMID:34961929|PMID:34985190|PMID:35232966|PMID:35349344|PMID:35416773|PMID:35431768|PMID:35535061|PMID:35572954|PMID:35626323|PMID:35844336|PMID:36553407|PMID:37168916|PMID:37208429|PMID:37269902|PMID:37361697|PMID:37471416|PMID:37697751|PMID:39419571|PMID:39634245|PMID:39654666|PMID:39768432|PMID:40851490|PMID:40869443|PMID:41165782|PMID:9500542|PMID:9536098
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:1852	intrahepatic cholestasis	susceptibility	ISO	RGD:1318284	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:9500542|REF_RGD_ID:1599397
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:630	genetic disease		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32917322
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9001981	Weight Loss		ISO	RGD:1318284	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:25741868
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9004898	Jaundice		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:15239083|PMID:22525741|PMID:25741868|PMID:28492532
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9006202	Pruritus		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:26678486
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:35535061
12092695	ATP8B1	ATPase phospholipid transporting 8B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318284	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:733041	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Periventricular Nodular Heterotopia | ClinVar Annotator: match by term: Periventricular nodular heterotopia	PMID:25741868|PMID:30150678
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:0061246	periventricular nodular heterotopia 9		ISO	RGD:733041	D	RGD:7240710	20200701	OMIM			
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:0061246	periventricular nodular heterotopia 9		ISO	RGD:733041	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAP1B-related condition | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 9 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 9	PMID:25741868|PMID:28492532|PMID:29738522|PMID:30150678|PMID:30979967|PMID:31317654|PMID:32720330|PMID:33268592|PMID:33772511
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:0070609	autosomal dominant nonsyndromic deafness 83		ISO	RGD:733041	D	RGD:7240710	20220413	OMIM			
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:0070609	autosomal dominant nonsyndromic deafness 83		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 83	PMID:25741868
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:10534	stomach cancer		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:1059	intellectual disability		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:10907	microcephaly		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:1115	sarcoma		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:1459	hypothyroidism		ISO	RGD:3043	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellum	PMID:3252178|REF_RGD_ID:2304042
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:1909	melanoma		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:2340	craniosynostosis		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:3070	high grade glioma		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:630	genetic disease		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3043	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:spinal cord, neuron	PMID:17880387|REF_RGD_ID:2304007
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9000998	Brain Injuries		ISO	RGD:3043	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:brain	PMID:10906717|REF_RGD_ID:2304029
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9003816	Macrocephaly		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9004420	Periventricular Nodular Heterotopia 5		ISO	RGD:733041	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Chromosome 5Q14.3 deletion syndrome, distal	PMID:25741868
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9004538	Hearing Loss		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3043	D	RGD:9068941	20241121	RGD		mRNA, protein:altered localization:brain	PMID:11395167|REF_RGD_ID:2304062
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3043	D	RGD:9068941	20241121	RGD		mRNA:increased expression:hippocampus	PMID:12598335|REF_RGD_ID:2304015
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733041	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30979967
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092733	MAP1B	microtubule associated protein 1B	gene	DOID:9970	obesity		ISO	RGD:733041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:0070505	mitochondrial complex IV deficiency nuclear type 20		ISO	RGD:732301	D	RGD:7240710	20201111	OMIM			
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:0070505	mitochondrial complex IV deficiency nuclear type 20		ISO	RGD:732301	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COX5A-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 20	PMID:25741868|PMID:28492532
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:0080600	COVID-19		ISO	RGD:732301	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:10534	stomach cancer		ISO	RGD:732301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12092744	COX5A	cytochrome c oxidase subunit Va	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12092753	PLAAT1	phospholipase A and acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092753	PLAAT1	phospholipase A and acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092753	PLAAT1	phospholipase A and acyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1319850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:1115	sarcoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:1909	melanoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:4362	cervical cancer		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092776	GHITM	growth hormone inducible transmembrane protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092795	CCNG1	cyclin G1	gene	DOID:0050933	ovarian serous carcinoma	severity	ISO	RGD:735830	D	RGD:9068941	20220303	RGD		mRNA, protein:increased expression:ovary (human)	PMID:30565428|REF_RGD_ID:151361205
12092795	CCNG1	cyclin G1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092795	CCNG1	cyclin G1	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:2295	D	RGD:9068941	20220218	RGD			PMID:18612315|PMID:24398934|REF_RGD_ID:151356934|REF_RGD_ID:151356935
12092795	CCNG1	cyclin G1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735830	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, neuron	PMID:12214116|REF_RGD_ID:2316025
12092795	CCNG1	cyclin G1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735830	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:bladder (human)	PMID:27982046|REF_RGD_ID:151361200
12092795	CCNG1	cyclin G1	gene	DOID:1115	sarcoma		ISO	RGD:735830	D	RGD:9068941	20220303	RGD		mRNA:decreased expression: (human)	PMID:27982046|REF_RGD_ID:151361200
12092795	CCNG1	cyclin G1	gene	DOID:1115	sarcoma	treatment	ISO	RGD:735830	D	RGD:9068941	20220303	RGD			PMID:19532136|REF_RGD_ID:151361204
12092795	CCNG1	cyclin G1	gene	DOID:11166	Human papillomavirus infectious disease	disease_progression	ISO	RGD:735830	D	RGD:9068941	20220225	RGD		associated with cervix carcinoma; protein:increased expression:cervix (human)	PMID:16845792|REF_RGD_ID:2316022
12092795	CCNG1	cyclin G1	gene	DOID:11934	head and neck cancer		ISO	RGD:735830	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:head and neck (human)	PMID:27982046|REF_RGD_ID:151361200
12092795	CCNG1	cyclin G1	gene	DOID:127	leiomyoma		ISO	RGD:735830	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:uterus, myometrium	PMID:12634633|REF_RGD_ID:2316023
12092795	CCNG1	cyclin G1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:25472877|REF_RGD_ID:151361106
12092795	CCNG1	cyclin G1	gene	DOID:1612	breast cancer	treatment	ISO	RGD:2295	D	RGD:9068941	20220217	RGD			PMID:23791885|REF_RGD_ID:151356928
12092795	CCNG1	cyclin G1	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:11177556|REF_RGD_ID:151361109
12092795	CCNG1	cyclin G1	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		protein:increased expression:ovary (human)	PMID:25981880|REF_RGD_ID:11055572
12092795	CCNG1	cyclin G1	gene	DOID:2394	ovarian cancer		ISO	RGD:735830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12092795	CCNG1	cyclin G1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:5552939	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:33760168|REF_RGD_ID:151356990
12092795	CCNG1	cyclin G1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		DNA:amplification:ovary (human)	PMID:22056875|REF_RGD_ID:151361152
12092795	CCNG1	cyclin G1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		mRNA:increased expression:ovary (human)	PMID:32271408|REF_RGD_ID:151356992
12092795	CCNG1	cyclin G1	gene	DOID:3356	localized osteosarcoma	treatment	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:9322869|REF_RGD_ID:151356969
12092795	CCNG1	cyclin G1	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:735831	D	RGD:9068941	20220303	RGD		mRNA, protein:altered expression:mammary (mouse)	PMID:11146550|REF_RGD_ID:2315939
12092795	CCNG1	cyclin G1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1349177	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:26872615|REF_RGD_ID:11555725
12092795	CCNG1	cyclin G1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:735830	D	RGD:9068941	20220224	RGD		mRNA:increased expression:ovary (human)	PMID:26872615|REF_RGD_ID:11555725
12092795	CCNG1	cyclin G1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735830	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	PMID:25741868
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620761	D	RGD:9068941	20220217	RGD			PMID:25431954|REF_RGD_ID:151356922
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:23804702|REF_RGD_ID:151356967
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735831	D	RGD:9068941	20220303	RGD			PMID:27982046|REF_RGD_ID:151361200
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:23804702|REF_RGD_ID:151356967
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:19584283|REF_RGD_ID:151356981
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:735830	D	RGD:9068941	20220303	RGD		protein:decreased expression:liver (human)	PMID:22835824|REF_RGD_ID:151361198
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2295	D	RGD:9068941	20220218	RGD			PMID:24034575|PMID:26345095|REF_RGD_ID:151356932|REF_RGD_ID:151356933
12092795	CCNG1	cyclin G1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:33543294|REF_RGD_ID:151356970
12092795	CCNG1	cyclin G1	gene	DOID:767	muscular atrophy		ISO	RGD:2295	D	RGD:9068941	20220224	RGD		associated with microgravity; mRNA:increased expression:gastrocnemius (rat)	PMID:14638460|REF_RGD_ID:151361116
12092795	CCNG1	cyclin G1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:735830	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16845792|REF_RGD_ID:2316022
12092795	CCNG1	cyclin G1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12092795	CCNG1	cyclin G1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735831	D	RGD:9068941	20220303	RGD			PMID:27982046|REF_RGD_ID:151361200
12092795	CCNG1	cyclin G1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:735830	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16845792|REF_RGD_ID:2316022
12092795	CCNG1	cyclin G1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2295	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:9698156|REF_RGD_ID:2316027
12092795	CCNG1	cyclin G1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289808
12092795	CCNG1	cyclin G1	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:735830	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:10910035|REF_RGD_ID:151356987
12092795	CCNG1	cyclin G1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092795	CCNG1	cyclin G1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092795	CCNG1	cyclin G1	gene	DOID:9009121	lung metastasis		ISO	RGD:735831	D	RGD:9068941	20220303	RGD			PMID:30565428|REF_RGD_ID:151361205
12092795	CCNG1	cyclin G1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092809	ADPRM	ADP-ribose/CDP-alcohol diphosphatase, manganese dependent	gene	DOID:10534	stomach cancer		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092809	ADPRM	ADP-ribose/CDP-alcohol diphosphatase, manganese dependent	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092809	ADPRM	ADP-ribose/CDP-alcohol diphosphatase, manganese dependent	gene	DOID:4362	cervical cancer		ISO	RGD:1604325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:0111846	X-linked congenital hemolytic anemia		ISO	RGD:1351598	D	RGD:7240710	20190315	OMIM			
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:0111846	X-linked congenital hemolytic anemia		ISO	RGD:1351598	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ATP11C-related condition | ClinVar Annotator: match by term: HEMOLYTIC ANEMIA, CONGENITAL, X-LINKED | ClinVar Annotator: match by term: X-linked congenital hemolytic anemia	PMID:25741868|PMID:26944472|PMID:28492532
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:10534	stomach cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:1115	sarcoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:1324	lung cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:1909	melanoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:3070	high grade glioma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:4362	cervical cancer		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:5041	esophageal cancer		ISO	RGD:1351598	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12092823	ATP11C	ATPase phospholipid transporting 11C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:10534	stomach cancer		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:1909	melanoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:2394	ovarian cancer		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092872	RASGEF1C	RasGEF domain family member 1C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:0051065	chronic pancreatitis	severity	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22549003|REF_RGD_ID:10053701
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:0080855	Parkinsonism		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23251488|REF_RGD_ID:10053712
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:24582457|REF_RGD_ID:13782254
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:10286	prostate carcinoma		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:11781193|REF_RGD_ID:2292676
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:temporal cortex, membrane	PMID:9507158|REF_RGD_ID:10053642
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:15339646|REF_RGD_ID:10053639
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:10763	hypertension	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20065158|REF_RGD_ID:10053702
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:24378970|REF_RGD_ID:10053695
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:11781193|REF_RGD_ID:2292676
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1240	leukemia		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970779
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1380	endometrial cancer	disease progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:altered expression:endometrium (human)	PMID:24645842|REF_RGD_ID:13432164
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1459	hypothyroidism		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22513421|REF_RGD_ID:10053713
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:17004114|REF_RGD_ID:2292674
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1686	glaucoma		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:retina	PMID:16103353|REF_RGD_ID:2292690
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1793	pancreatic cancer	treatment	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:23523869|REF_RGD_ID:13451129
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:1875	impotence	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21235725|REF_RGD_ID:10053666
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:219	colon cancer	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:21214291|REF_RGD_ID:10053668
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:224	transient cerebral ischemia		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12629175
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:2316	brain ischemia		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22843461|REF_RGD_ID:10053716
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:2316	brain ischemia		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:brain	PMID:18078455|REF_RGD_ID:2292681
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20037173|REF_RGD_ID:10053672
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3070	high grade glioma		ISO	RGD:620103	D	RGD:9068941	20250109	RGD		protein:increased phosphorylation:brain (rat)	PMID:16944316|REF_RGD_ID:2292675
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:10582606|REF_RGD_ID:13506907
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:21891976|PMID:22200499|REF_RGD_ID:10053665|REF_RGD_ID:10053704
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3669	intermittent claudication		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:18198484|REF_RGD_ID:2292680
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:24092988|REF_RGD_ID:13434906
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:21918885|REF_RGD_ID:13432584
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:4448	macular degeneration	severity	ISO	RGD:735541	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:22773904|REF_RGD_ID:10053644
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:15851405|REF_RGD_ID:2292677
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:8398	osteoarthritis		ISO	RGD:735541	D	RGD:9068941	20200609	RGD			PMID:19217321|REF_RGD_ID:10053643
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9000998	Brain Injuries		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:15941375|REF_RGD_ID:2292694
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:lung	PMID:15345971|REF_RGD_ID:2292699
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23056591|REF_RGD_ID:10053711
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23643992|REF_RGD_ID:10053660
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:22647552|REF_RGD_ID:10053673
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Non-alcoholic Fatty Liver Disease	PMID:22847887|REF_RGD_ID:10053710
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733062	D	RGD:9068941	20200609	RGD			PMID:17607361|REF_RGD_ID:2292673
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735541	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17542986|PMID:19593445
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:21921241|REF_RGD_ID:10053646
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:altered localization:brain, mitochondria	PMID:18347331|REF_RGD_ID:2292679
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:620103	D	RGD:9068941	20241010	RGD			PMID:31828147|REF_RGD_ID:35316072
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9004484	Sepsis		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased localization:mitochondrion	PMID:24011917|REF_RGD_ID:10053647
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22683079|REF_RGD_ID:10053707
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9004953	Diabetic Cystopathy	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23129268|REF_RGD_ID:10053664
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:733062	D	RGD:9068941	20241010	RGD		protein:increased expression:brain cortex, hippocampus:	PMID:16496378|REF_RGD_ID:407574727
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:20732338|REF_RGD_ID:10053708
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23404339|REF_RGD_ID:10053670
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased serine phosphorylation:cornea	PMID:21330660|REF_RGD_ID:5131482
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased phosphorylation, altered activity:testis	PMID:17870134|REF_RGD_ID:2292685
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21296063|REF_RGD_ID:10053697
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620103	D	RGD:9068941	20241114	RGD		protein:decreased phosphorylation:hippocampus	PMID:15968425|REF_RGD_ID:2292693
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007334	Small-For-Size Syndrome	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:22151301|REF_RGD_ID:10053671
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:25447754|REF_RGD_ID:10053709
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation, increased dimerization, increased glycosylation:heart	PMID:21385329|REF_RGD_ID:10053645
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007730	Burns		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil	PMID:15625305|REF_RGD_ID:2292697
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased serine phosphorylation:heart	PMID:15339931|REF_RGD_ID:2292700
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23364609|REF_RGD_ID:10053674
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620103	D	RGD:9068941	20200609	RGD			PMID:23032698|REF_RGD_ID:10053698
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:620103	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24288572|REF_RGD_ID:10053667
12092902	BAD	BCL2 associated agonist of cell death	gene	DOID:9970	obesity		ISO	RGD:620103	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:18070754|REF_RGD_ID:2292682
12092921	FCER2	Fc epsilon receptor II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092921	FCER2	Fc epsilon receptor II	gene	DOID:10534	stomach cancer		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092921	FCER2	Fc epsilon receptor II	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1354370	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
12092921	FCER2	Fc epsilon receptor II	gene	DOID:14330	Parkinson's disease		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
12092921	FCER2	Fc epsilon receptor II	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11500085
12092921	FCER2	Fc epsilon receptor II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092921	FCER2	Fc epsilon receptor II	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
12092921	FCER2	Fc epsilon receptor II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092921	FCER2	Fc epsilon receptor II	gene	DOID:9588	encephalitis		ISO	RGD:1354370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11500085
12092941	MANBA	mannosidase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092941	MANBA	mannosidase beta	gene	DOID:0060058	lymphoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12092941	MANBA	mannosidase beta	gene	DOID:10534	stomach cancer		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606
12092941	MANBA	mannosidase beta	gene	DOID:1059	intellectual disability		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18980795|PMID:19728872|PMID:22369051|PMID:25741868|PMID:28492532|PMID:30552791
12092941	MANBA	mannosidase beta	gene	DOID:1115	sarcoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12092941	MANBA	mannosidase beta	gene	DOID:1826	epilepsy		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12092941	MANBA	mannosidase beta	gene	DOID:3275	thymoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12092941	MANBA	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1314025	D	RGD:7240710	20180822	OMIM			
12092941	MANBA	mannosidase beta	gene	DOID:3633	beta-mannosidosis		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BETA-MANNOSIDOSIS | ClinVar Annotator: match by term: Beta-D-mannosidosis | ClinVar Annotator: match by term: Beta-mannosidase deficiency | ClinVar Annotator: match by term: Mannosidosis, beta | ClinVar Annotator: match by term: beta-mannosidosis	PMID:12468273|PMID:12890191|PMID:16199547|PMID:16401745|PMID:16904924|PMID:17420068|PMID:17576681|PMID:18565776|PMID:18980795|PMID:19728872|PMID:19763152|PMID:20307669|PMID:2079835|PMID:22369051|PMID:22406018|PMID:24033266|PMID:25640679|PMID:25741867|PMID:25741868|PMID:28492532|PMID:30552791|PMID:30872814|PMID:31115173|PMID:32847582|PMID:34374989|PMID:34906502|PMID:35018184|PMID:35442417|PMID:9384606|PMID:9536098
12092941	MANBA	mannosidase beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1314025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092941	MANBA	mannosidase beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12092941	MANBA	mannosidase beta	gene	DOID:630	genetic disease		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:2079835|PMID:25741868|PMID:28492532
12092941	MANBA	mannosidase beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12092941	MANBA	mannosidase beta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12092941	MANBA	mannosidase beta	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:12468273|PMID:16199547|PMID:18565776|PMID:25741868|PMID:28492532|PMID:30872814|PMID:32847582|PMID:9384606
12092941	MANBA	mannosidase beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12092941	MANBA	mannosidase beta	gene	DOID:9849	Meniere's disease		ISO	RGD:1314025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ménière's disease	PMID:18980795|PMID:19728872|PMID:22369051|PMID:25741868|PMID:28492532|PMID:30552791
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:11162	respiratory failure		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:1324	lung cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1313579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12092962	SENP7	SUMO specific peptidase 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12092995	MYNN	myoneurin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12092995	MYNN	myoneurin	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1317346	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
12092995	MYNN	myoneurin	gene	DOID:10534	stomach cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12092995	MYNN	myoneurin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12092995	MYNN	myoneurin	gene	DOID:1324	lung cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12092995	MYNN	myoneurin	gene	DOID:1909	melanoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12092995	MYNN	myoneurin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12092995	MYNN	myoneurin	gene	DOID:4362	cervical cancer		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12092995	MYNN	myoneurin	gene	DOID:5041	esophageal cancer		ISO	RGD:1317346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12092995	MYNN	myoneurin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12092995	MYNN	myoneurin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093017	BPIFA3	BPI fold containing family A member 3	gene	DOID:1115	sarcoma		ISO	RGD:1347929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093034	CDKN2D	cyclin dependent kinase inhibitor 2D	gene	DOID:1324	lung cancer		ISO	RGD:1346352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093034	CDKN2D	cyclin dependent kinase inhibitor 2D	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346352	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12093045	DCDC2B	doublecortin domain containing 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093045	DCDC2B	doublecortin domain containing 2B	gene	DOID:1909	melanoma		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093045	DCDC2B	doublecortin domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604739	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093045	DCDC2B	doublecortin domain containing 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604739	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:1909	melanoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093066	MCMBP	minichromosome maintenance complex binding protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12093093	UNC13B	unc-13 homolog B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093093	UNC13B	unc-13 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093093	UNC13B	unc-13 homolog B	gene	DOID:0080600	COVID-19		ISO	RGD:734027	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12093093	UNC13B	unc-13 homolog B	gene	DOID:10534	stomach cancer		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093093	UNC13B	unc-13 homolog B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093093	UNC13B	unc-13 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093093	UNC13B	unc-13 homolog B	gene	DOID:12849	autistic disorder		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12093093	UNC13B	unc-13 homolog B	gene	DOID:1324	lung cancer		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093093	UNC13B	unc-13 homolog B	gene	DOID:1826	epilepsy		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12093093	UNC13B	unc-13 homolog B	gene	DOID:4362	cervical cancer		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093093	UNC13B	unc-13 homolog B	gene	DOID:5041	esophageal cancer		ISO	RGD:734027	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093093	UNC13B	unc-13 homolog B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093093	UNC13B	unc-13 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093093	UNC13B	unc-13 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093093	UNC13B	unc-13 homolog B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12093093	UNC13B	unc-13 homolog B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093181	LOC100685292	zinc finger and SCAN domain-containing protein 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093181	LOC100685292	zinc finger and SCAN domain-containing protein 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093199	ANK1	ankyrin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093199	ANK1	ankyrin 1	gene	DOID:0080006	bone development disease		ISO	RGD:1320055	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728347
12093199	ANK1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:1320055	D	RGD:7240710	20180130	OMIM			
12093199	ANK1	ankyrin 1	gene	DOID:0110916	hereditary spherocytosis type 1		ISO	RGD:1320055	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANK1-related condition | ClinVar Annotator: match by term: Hereditary spherocytosis type 1 | ClinVar Annotator: match by term: SPHEROCYTOSIS, TYPE 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spherocytosis, type 1, autosomal recessive	PMID:11102985|PMID:11527968|PMID:12899723|PMID:16199547|PMID:17576681|PMID:21099109|PMID:25741868|PMID:26830532|PMID:28492532|PMID:28694211|PMID:29228571|PMID:29572776|PMID:30317022|PMID:30486584|PMID:30777044|PMID:31016877|PMID:31122244|PMID:31980736|PMID:32436265|PMID:33116287|PMID:33868383|PMID:34201899|PMID:35817016|PMID:36598564|PMID:36816036|PMID:36928866|PMID:37040722|PMID:37246216|PMID:37280519|PMID:37996759|PMID:38655052|PMID:39378964|PMID:40457051|PMID:8640229|PMID:9470011|PMID:9536098|PMID:9887280
12093199	ANK1	ankyrin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093199	ANK1	ankyrin 1	gene	DOID:10907	microcephaly		ISO	RGD:1320055	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12093199	ANK1	ankyrin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093199	ANK1	ankyrin 1	gene	DOID:1115	sarcoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093199	ANK1	ankyrin 1	gene	DOID:12365	malaria		ISO	RGD:1320056	D	RGD:9068941	20220825	MouseDO		OMIM:609148 | OMIM:611162	
12093199	ANK1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spherocytosis | ClinVar Annotator: match by term: Spherocytosis | ClinVar Annotator: match by term: hereditary spherocytosis | ClinVar Annotator: match by term: spherocytosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:37040722|PMID:9536098
12093199	ANK1	ankyrin 1	gene	DOID:12971	hereditary spherocytosis	severity	ISO	RGD:1320056	D	RGD:9068941	20200609	RGD		DNA:deletion mutation:exon:	PMID:14671619|REF_RGD_ID:11251681
12093199	ANK1	ankyrin 1	gene	DOID:1324	lung cancer		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093199	ANK1	ankyrin 1	gene	DOID:1909	melanoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093199	ANK1	ankyrin 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1309620	D	RGD:9068941	20200609	RGD			PMID:9202331|REF_RGD_ID:1599109
12093199	ANK1	ankyrin 1	gene	DOID:2355	anemia		ISO	RGD:1320055	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12093199	ANK1	ankyrin 1	gene	DOID:2355	anemia	severity	ISO	RGD:1320055	D	RGD:9068941	20200609	RGD		associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:	PMID:11372755|REF_RGD_ID:11251706
12093199	ANK1	ankyrin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093199	ANK1	ankyrin 1	gene	DOID:630	genetic disease		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12093199	ANK1	ankyrin 1	gene	DOID:9000582	Reticulocytosis	severity	ISO	RGD:1320055	D	RGD:9068941	20200609	RGD		associated with Spherocytosis, Hereditary;DNA:nonsense, frameshift,splice mutations:exons,introns:	PMID:11372755|REF_RGD_ID:11251706
12093199	ANK1	ankyrin 1	gene	DOID:9000972	Fever		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
12093199	ANK1	ankyrin 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1320055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532|PMID:8640229
12093199	ANK1	ankyrin 1	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:1320056	D	RGD:9068941	20200609	RGD			PMID:23390527|REF_RGD_ID:11041609
12093199	ANK1	ankyrin 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1309620	D	RGD:9068941	20200609	RGD			PMID:9378703|REF_RGD_ID:1599110
12093282	ARPIN	actin related protein 2/3 complex inhibitor	gene	DOID:0080600	COVID-19		ISO	RGD:1604167	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12093282	ARPIN	actin related protein 2/3 complex inhibitor	gene	DOID:9256	colorectal cancer		ISO	RGD:1604167	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:28492532
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:0070452	xanthinuria type I		ISO	RGD:737503	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary xanthinuria type 1	
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:0112177	Mayer-Rokitansky-Kuster-Hauser syndrome		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia of the uterus	PMID:10718838|PMID:10999800|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532|PMID:30695888|PMID:32567554|PMID:35154247|PMID:35700942|PMID:36617173|PMID:8262007
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10283	prostate cancer		ISO	RGD:737503	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:12949937|REF_RGD_ID:2302560
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:737503	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A49T (human)	PMID:10501358|REF_RGD_ID:4891929
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10892	hypospadias		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:28492532|PMID:31031332|PMID:35386187
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10892	hypospadias	susceptibility	ISO	RGD:737503	D	RGD:9068941	20200609	RGD		protein:missense mutations:cds:p.R227Q, p.F186L (human)	PMID:10514539|REF_RGD_ID:1600059
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:10907	microcephaly		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:1406794|PMID:16199547|PMID:1944596|PMID:21147889|PMID:25741868|PMID:28492532|PMID:28938747
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20823678
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:12700	hyperprolactinemia		ISO	RGD:621480	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (rat)	PMID:18379994|REF_RGD_ID:4891877
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:13938	amenorrhea		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:10718838|PMID:10999800|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532|PMID:30695888|PMID:32567554|PMID:35154247|PMID:35700942|PMID:36617173|PMID:8262007
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:1923	disorder of sexual development		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:10718838|PMID:14594182|PMID:1522235|PMID:18097518|PMID:18717241|PMID:19492581|PMID:20190539|PMID:20493473|PMID:20583543|PMID:23329752|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27854360|PMID:28492532
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:1924	hypogonadism		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:12699446|PMID:16181229|PMID:17609295|PMID:21147889|PMID:25266188|PMID:25741868|PMID:27070133|PMID:28492532|PMID:8110760
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:289	endometriosis		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21232532
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:737503	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:15212687|REF_RGD_ID:2302558
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:630	genetic disease		ISO	RGD:737503	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:737503	D	RGD:7240710	20180130	OMIM			
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:737503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | ClinVar Annotator: match by term: Familial incomplete male pseudohermaphroditism, type 2 | ClinVar Annotator: match by term: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS | ClinVar Annotator: match by term: Steroid 5-alpha-reductase deficiency	PMID:10564874|PMID:10718838|PMID:10999800|PMID:1147889|PMID:12008688|PMID:12576851|PMID:12699446|PMID:12843198|PMID:1406794|PMID:14594182|PMID:1522235|PMID:15266301|PMID:15528927|PMID:15770495|PMID:16181229|PMID:16199547|PMID:17576681|PMID:17609295|PMID:18097518|PMID:18314109|PMID:18350250|PMID:18384427|PMID:18391525|PMID:18717241|PMID:19342739|PMID:1944596|PMID:19492581|PMID:20019388|PMID:20190539|PMID:20493473|PMID:20583543|PMID:20736251|PMID:20850730|PMID:21147889|PMID:21402750|PMID:2154055|PMID:21540559|PMID:21631525|PMID:21714467|PMID:22272144|PMID:22362597|PMID:22435390|PMID:22453073|PMID:23329752|PMID:23633205|PMID:24665940|PMID:24737579|PMID:24885102|PMID:25248670|PMID:25266188|PMID:25741868|PMID:25899528|PMID:26446026|PMID:2665940|PMID:26980298|PMID:27070133|PMID:27086719|PMID:27717089|PMID:27854360|PMID:27899157|PMID:28110336|PMID:28492532|PMID:28544750|PMID:28663096|PMID:28938747|PMID:29582157|PMID:29798939|PMID:30132287|PMID:30269266|PMID:30668521|PMID:30695888|PMID:30889611|PMID:30968598|PMID:31031332|PMID:31130284|PMID:31186340|PMID:31219235|PMID:31885560|PMID:31942420|PMID:32346305|PMID:32371413|PMID:32380235|PMID:32567554|PMID:32596280|PMID:32669180|PMID:32713132|PMID:32894851|PMID:33516834|PMID:33742552|PMID:33775494|PMID:35154247|PMID:35331321|PMID:35386187|PMID:35488637|PMID:35700942|PMID:35793650|PMID:36606580|PMID:36617173|PMID:37918676|PMID:39285472|PMID:39314038|PMID:4028464|PMID:755047|PMID:7608269|PMID:8110760|PMID:8262007|PMID:835597|PMID:8626825|PMID:8706317|PMID:8723114|PMID:8768837|PMID:8784107|PMID:9066886|PMID:9135696|PMID:9208814|PMID:9536098|PMID:9745434|PMID:9843052
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16998812|PMID:17136762|PMID:17823934|PMID:18306354|PMID:18500220
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:737503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROPENIS | ClinVar Annotator: match by term: Micropenis	PMID:10898110|PMID:12843198|PMID:14594182|PMID:15064320|PMID:19342739|PMID:20736251|PMID:22453073|PMID:25605705|PMID:25741868|PMID:25899528|PMID:28492532|PMID:31031332|PMID:32713132|PMID:35386187|PMID:8784107
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9296	cleft lip		ISO	RGD:737503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:1406794|PMID:16199547|PMID:1944596|PMID:21147889|PMID:25741868|PMID:28492532|PMID:28938747
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:621480	D	RGD:9068941	20200609	RGD			PMID:12749121|REF_RGD_ID:1600067
12093350	SRD5A2	steroid 5 alpha-reductase 2	gene	DOID:987	alopecia		ISO	RGD:737503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17136762
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:0061215	hepatic fibrosis		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868|PMID:33495992
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868|PMID:33495992
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1354298	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:3070	high grade glioma		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:5082	liver cirrhosis		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic fibrosis	PMID:25741868|PMID:33495992
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093358	PDIA6	protein disulfide isomerase family A member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1354298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:10534	stomach cancer		ISO	RGD:733725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:1324	lung cancer		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:3275	thymoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093385	SLC6A13	solute carrier family 6 member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093421	F9	coagulation factor IX	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093421	F9	coagulation factor IX	gene	DOID:0060903	thrombosis		ISO	RGD:735620	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:1279834
12093421	F9	coagulation factor IX	gene	DOID:0080839	X-linked warfarin sensitivity		ISO	RGD:735620	D	RGD:7240710	20201118	OMIM			
12093421	F9	coagulation factor IX	gene	DOID:0080839	X-linked warfarin sensitivity		ISO	RGD:735620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COUMARIN SENSITIVITY, X-LINKED | ClinVar Annotator: match by term: WARFARIN SENSITIVITY, X-LINKED	PMID:10094553|PMID:10698280|PMID:19699296|PMID:2066105|PMID:22639855|PMID:23617593|PMID:2370049|PMID:24375831|PMID:25741868|PMID:25851415|PMID:2773937|PMID:28492532|PMID:28722788|PMID:29296726|PMID:29450643|PMID:29923114|PMID:30576981|PMID:31064749|PMID:32224444|PMID:40514537|PMID:7937052|PMID:8320491|PMID:8833911
12093421	F9	coagulation factor IX	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:735620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:10094553|PMID:10373456|PMID:10595634|PMID:10739381|PMID:11328285|PMID:12554099|PMID:12709378|PMID:15178576|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:1873221|PMID:1968152|PMID:19699296|PMID:1972560|PMID:2066105|PMID:2087690|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:24219067|PMID:24375831|PMID:24759143|PMID:25326637|PMID:25741868|PMID:26782891|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:28722788|PMID:29296726|PMID:29656491|PMID:31064749|PMID:32224444|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:34708896|PMID:6603618|PMID:7797466|PMID:7873393|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8470048|PMID:8680410
12093421	F9	coagulation factor IX	gene	DOID:0111899	X-linked thrombophilia due to factor IX defect		ISO	RGD:735620	D	RGD:7240710	20180130	OMIM			
12093421	F9	coagulation factor IX	gene	DOID:0111899	X-linked thrombophilia due to factor IX defect		ISO	RGD:735620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEEP VENOUS THROMBOSIS, PROTECTION AGAINST | ClinVar Annotator: match by term: THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT | ClinVar Annotator: match by term: Thrombophilia, X-linked, due to factor 9 defect	PMID:10094553|PMID:10192459|PMID:10373456|PMID:10595634|PMID:10698280|PMID:10739381|PMID:10874302|PMID:11328285|PMID:12554099|PMID:12687663|PMID:12709378|PMID:1517205|PMID:15178576|PMID:1579901|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:17014892|PMID:1740319|PMID:18624698|PMID:1873221|PMID:19262239|PMID:19522246|PMID:1968152|PMID:1969838|PMID:19699296|PMID:1972560|PMID:20301668|PMID:2066105|PMID:2087690|PMID:2198809|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:2270538|PMID:23093250|PMID:23492913|PMID:23617593|PMID:2370049|PMID:23913812|PMID:24219067|PMID:24375831|PMID:24759143|PMID:25326637|PMID:25470321|PMID:2570235|PMID:25741868|PMID:25851415|PMID:26612714|PMID:26782891|PMID:2741941|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27824213|PMID:27865967|PMID:28193338|PMID:28492532|PMID:28722788|PMID:29296726|PMID:29517974|PMID:29656491|PMID:31064749|PMID:31272859|PMID:32155688|PMID:32224444|PMID:32267853|PMID:32581362|PMID:32766856|PMID:33999344|PMID:34173867|PMID:34272389|PMID:34355501|PMID:34426522|PMID:34590426|PMID:34708896|PMID:35770352|PMID:35842956|PMID:36347023|PMID:37647632|PMID:40514537|PMID:6603618|PMID:734633|PMID:7482427|PMID:7797466|PMID:7873393|PMID:7937052|PMID:8076946|PMID:8091381|PMID:8217825|PMID:8257988|PMID:8314564|PMID:8320491|PMID:8401514|PMID:8470048|PMID:8594556|PMID:8680410|PMID:9450791|PMID:9600455
12093421	F9	coagulation factor IX	gene	DOID:12134	factor VIII deficiency		ISO	RGD:735620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:10094553|PMID:10373456|PMID:10595634|PMID:10739381|PMID:11328285|PMID:12554099|PMID:12709378|PMID:15178576|PMID:15921378|PMID:1615486|PMID:16643212|PMID:1680287|PMID:1873221|PMID:1968152|PMID:19699296|PMID:1972560|PMID:2066105|PMID:2087690|PMID:22103590|PMID:2220823|PMID:22544209|PMID:22639855|PMID:23093250|PMID:23617593|PMID:24219067|PMID:24375831|PMID:24759143|PMID:25326637|PMID:25741868|PMID:26782891|PMID:2752109|PMID:27529981|PMID:2773937|PMID:27865967|PMID:28193338|PMID:28492532|PMID:28722788|PMID:29296726|PMID:29656491|PMID:31064749|PMID:32224444|PMID:32581362|PMID:34272389|PMID:34355501|PMID:34590426|PMID:34708896|PMID:6603618|PMID:7797466|PMID:7873393|PMID:8091381|PMID:8257988|PMID:8314564|PMID:8470048|PMID:8680410
12093421	F9	coagulation factor IX	gene	DOID:12259	hemophilia B		ISO	RGD:735620	D	RGD:7240710	20180130	OMIM			
12093421	F9	coagulation factor IX	gene	DOID:12259	hemophilia B		ISO	RGD:735620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Christmas Disease | ClinVar Annotator: match by term: Factor IX deficiency | ClinVar Annotator: match by term: HEMOPHILIA B | ClinVar Annotator: match by term: HEMOPHILIA B BRANDENBURG | ClinVar Annotator: match by term: HEMOPHILIA B LEYDEN | ClinVar Annotator: match by term: HEMOPHILIA B(M) | ClinVar Annotator: match by term: Hemophilia B | ClinVar Annotator: match by term: Hereditary factor IX deficiency disease	PMID:10090477|PMID:10094553|PMID:10192459|PMID:10373456|PMID:10595634|PMID:10612837|PMID:10647899|PMID:10698280|PMID:10739381|PMID:10874302|PMID:11013449|PMID:11122099|PMID:11278305|PMID:11328285|PMID:11583320|PMID:12522212|PMID:12554099|PMID:12588353|PMID:12687663|PMID:12709378|PMID:1346077|PMID:1346975|PMID:14675097|PMID:15086324|PMID:1517205|PMID:15178576|PMID:15569175|PMID:15613048|PMID:1579901|PMID:15921378|PMID:1615486|PMID:16199547|PMID:16270648|PMID:1631121|PMID:16643212|PMID:1680287|PMID:1680373|PMID:17014892|PMID:17576681|PMID:1796396|PMID:18479429|PMID:18540896|PMID:18624698|PMID:1864609|PMID:18721150|PMID:1873221|PMID:1916816|PMID:19262239|PMID:19522246|PMID:1968152|PMID:1969838|PMID:19699296|PMID:1972560|PMID:19763152|PMID:19815722|PMID:2020563|PMID:20301668|PMID:20305539|PMID:20307669|PMID:2066105|PMID:20860608|PMID:2087690|PMID:2111833|PMID:21118338|PMID:21854538|PMID:21910785|PMID:2198809|PMID:22103590|PMID:2212858|PMID:2220823|PMID:22406018|PMID:22544209|PMID:22639855|PMID:2270538|PMID:22707612|PMID:22870602|PMID:22872643|PMID:2303434|PMID:2306516|PMID:23093250|PMID:2342576|PMID:23472758|PMID:2352926|PMID:23617593|PMID:23683429|PMID:23689273|PMID:2370049|PMID:23913812|PMID:23998594|PMID:24138812|PMID:24219067|PMID:24261420|PMID:24375831|PMID:2472424|PMID:24759143|PMID:24816826|PMID:25251685|PMID:25326637|PMID:25470321|PMID:25582609|PMID:2565449|PMID:2570235|PMID:25741868|PMID:25851415|PMID:2592998|PMID:25929987|PMID:26063760|PMID:26612714|PMID:26782891|PMID:26879396|PMID:26964564|PMID:27109384|PMID:27213901|PMID:27227676|PMID:2741941|PMID:2743975|PMID:2752109|PMID:27529981|PMID:27734074|PMID:2773937|PMID:27824213|PMID:27865967|PMID:28168417|PMID:28193338|PMID:28401110|PMID:28492532|PMID:28722788|PMID:28750473|PMID:28752769|PMID:28834196|PMID:2917196|PMID:29296726|PMID:29405493|PMID:29517974|PMID:29656491|PMID:29993188|PMID:3029178|PMID:30648777|PMID:30817051|PMID:30817849|PMID:31026269|PMID:31064749|PMID:31257730|PMID:31395865|PMID:31446339|PMID:31537632|PMID:32155688|PMID:32224444|PMID:32267853|PMID:32346856|PMID:32581362|PMID:3262389|PMID:32766856|PMID:32875744|PMID:32935414|PMID:33427373|PMID:33760382|PMID:33999344|PMID:34272389|PMID:34355501|PMID:34590426|PMID:34689141|PMID:34708896|PMID:34880139|PMID:35391506|PMID:35770352|PMID:35842956|PMID:36163649|PMID:36347023|PMID:3651597|PMID:36595620|PMID:36787808|PMID:37647632|PMID:38196513|PMID:38324470|PMID:38820490|PMID:38964254|PMID:38985830|PMID:39260745|PMID:39875687|PMID:40191713|PMID:4045960|PMID:40514537|PMID:6603618|PMID:7677806|PMID:7734378|PMID:7797466|PMID:7873393|PMID:7937052|PMID:7974379|PMID:8055323|PMID:8076948|PMID:8091381|PMID:8199596|PMID:8217825|PMID:8251390|PMID:8257988|PMID:8304338|PMID:8314564|PMID:8320491|PMID:8392713|PMID:8401514|PMID:8434583|PMID:8463288|PMID:8470048|PMID:8594556|PMID:8602635|PMID:8680410|PMID:8825645|PMID:8990015|PMID:9450791|PMID:9525872|PMID:9536098|PMID:9590153|PMID:9600455
12093421	F9	coagulation factor IX	gene	DOID:12259	hemophilia B	treatment	ISO	RGD:735620	D	RGD:9068941	20200609	RGD			PMID:20351275|PMID:21122306|REF_RGD_ID:10450761|REF_RGD_ID:10450764
12093421	F9	coagulation factor IX	gene	DOID:1247	blood coagulation disease		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:10094553|PMID:12709378|PMID:15921378|PMID:19699296|PMID:1972560|PMID:2066105|PMID:23093250|PMID:24219067|PMID:25326637|PMID:25741868|PMID:27529981|PMID:27865967|PMID:28492532|PMID:29656491|PMID:31064749|PMID:34355501|PMID:34708896|PMID:7937052|PMID:8091381
12093421	F9	coagulation factor IX	gene	DOID:1790	malignant mesothelioma		ISO	RGD:735620	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
12093421	F9	coagulation factor IX	gene	DOID:3572	intracranial sinus thrombosis		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: sinus thrombosis	PMID:19846852|PMID:25741868|PMID:7937052
12093421	F9	coagulation factor IX	gene	DOID:630	genetic disease		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12093421	F9	coagulation factor IX	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2589	D	RGD:9068941	20200609	RGD			PMID:12000738|REF_RGD_ID:1598921
12093421	F9	coagulation factor IX	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093421	F9	coagulation factor IX	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735620	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:7974333|REF_RGD_ID:2312416
12093421	F9	coagulation factor IX	gene	DOID:9834	hyperopia		ISO	RGD:735620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12093433	FBLN1	fibulin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093433	FBLN1	fibulin 1	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1318572	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
12093433	FBLN1	fibulin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093433	FBLN1	fibulin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093433	FBLN1	fibulin 1	gene	DOID:1115	sarcoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093433	FBLN1	fibulin 1	gene	DOID:1324	lung cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093433	FBLN1	fibulin 1	gene	DOID:289	endometriosis		ISO	RGD:1318572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12093433	FBLN1	fibulin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093433	FBLN1	fibulin 1	gene	DOID:3275	thymoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093433	FBLN1	fibulin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093433	FBLN1	fibulin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093433	FBLN1	fibulin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093433	FBLN1	fibulin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093433	FBLN1	fibulin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093433	FBLN1	fibulin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12093433	FBLN1	fibulin 1	gene	DOID:9001994	Synpolydactyly 2		ISO	RGD:1318572	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: FBLN1-related condition	PMID:25741868|PMID:28492532
12093433	FBLN1	fibulin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17929269
12093433	FBLN1	fibulin 1	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868
12093433	FBLN1	fibulin 1	gene	DOID:9004662	Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects		ISO	RGD:1318572	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects	
12093433	FBLN1	fibulin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093433	FBLN1	fibulin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093456	KIFC2	kinesin family member C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:1324	lung cancer		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093456	KIFC2	kinesin family member C2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352702	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093456	KIFC2	kinesin family member C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093456	KIFC2	kinesin family member C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:735850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:0080271	nephrotic syndrome type 15		ISO	RGD:735850	D	RGD:7240710	20190315	OMIM			
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:0080271	nephrotic syndrome type 15		ISO	RGD:735850	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAGI2-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 15 | ClinVar Annotator: match by term: Nephrotic syndrome 15	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28106320|PMID:28492532|PMID:30986657
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:735850	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:10283	prostate cancer		ISO	RGD:735850	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:621855	D	RGD:9068941	20260730	RGD		protein:decreased expression:kidney	PMID:28539383|REF_RGD_ID:736802381
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:735850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25653350
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:735850	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:735850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25653350
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:735850	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25653350
12093478	MAGI2	membrane associated guanylate kinase, WW and PDZ domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1601843	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:1115	sarcoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:1909	melanoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:2351	iron metabolism disease		ISO	RGD:1601843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632513
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12093536	MON1A	MON1 homolog A, secretory trafficking associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:10283	prostate cancer		ISO	RGD:1606317	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:10283	prostate cancer		ISO	RGD:1606317	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:1115	sarcoma		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:9007330	Monomelic Amyotrophy		ISO	RGD:1606317	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Monomelic Amyotrophy	
12093546	ARPP21	cAMP regulated phosphoprotein 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18340010
12093625	ITGB1	integrin subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
12093625	ITGB1	integrin subunit beta 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25668593
12093625	ITGB1	integrin subunit beta 1	gene	DOID:10485	esophageal atresia		ISO	RGD:736631	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:733764	D	RGD:9068941	20220825	MouseDO		OMIM:142623 | OMIM:600155 | OMIM:600156 | OMIM:606874 | OMIM:606875 | OMIM:608462 | OMIM:611644 | OMIM:613711 | OMIM:613712	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:10908	hydrocephalus		ISO	RGD:2927	D	RGD:9068941	20200609	RGD			PMID:19726708|REF_RGD_ID:2325325
12093625	ITGB1	integrin subunit beta 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11884376
12093625	ITGB1	integrin subunit beta 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21401805
12093625	ITGB1	integrin subunit beta 1	gene	DOID:182	calcinosis		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18340010
12093625	ITGB1	integrin subunit beta 1	gene	DOID:289	endometriosis		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12093625	ITGB1	integrin subunit beta 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:2927	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus (rat)	PMID:19662603|REF_RGD_ID:2325666
12093625	ITGB1	integrin subunit beta 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:736631	D	RGD:9068941	20250220	RGD		protein:increased expression:renal glomerulus	PMID:9355070|REF_RGD_ID:597805933
12093625	ITGB1	integrin subunit beta 1	gene	DOID:3275	thymoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21478906
12093625	ITGB1	integrin subunit beta 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736631	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:28537888|REF_RGD_ID:13792830
12093625	ITGB1	integrin subunit beta 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:736631	D	RGD:9068941	20200609	RGD			PMID:21063403|REF_RGD_ID:13792831
12093625	ITGB1	integrin subunit beta 1	gene	DOID:5409	lung small cell carcinoma	treatment	ISO	RGD:736631	D	RGD:9068941	20200609	RGD			PMID:12168902|REF_RGD_ID:13792832
12093625	ITGB1	integrin subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2927	D	RGD:9068941	20200609	RGD			PMID:28367125|REF_RGD_ID:13602094
12093625	ITGB1	integrin subunit beta 1	gene	DOID:6000	congestive heart failure		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11884376
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:736631	D	RGD:9068941	20200609	RGD		associated with non-small cell lung carcinoma,	PMID:28537888|REF_RGD_ID:13792830
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23562787
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2927	D	RGD:9068941	20200609	RGD			PMID:14984413|REF_RGD_ID:2302389
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2927	D	RGD:9068941	20200609	RGD		knock-down using a specific monoclonal antibody or RNAi	PMID:15836982|REF_RGD_ID:2302139
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224397
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2927	D	RGD:9068941	20200609	RGD		protein:decreased expression:epidermal stem cell (rat)	PMID:20187441|REF_RGD_ID:2325322
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9007402	Gliosis		ISO	RGD:736631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12851778
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093625	ITGB1	integrin subunit beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:736631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12093651	KCNH7	potassium voltage-gated channel subfamily H member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093651	KCNH7	potassium voltage-gated channel subfamily H member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093651	KCNH7	potassium voltage-gated channel subfamily H member 7	gene	DOID:1324	lung cancer		ISO	RGD:734396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093651	KCNH7	potassium voltage-gated channel subfamily H member 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:734396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12093651	KCNH7	potassium voltage-gated channel subfamily H member 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:10534	stomach cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:1115	sarcoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:1324	lung cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:4362	cervical cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093678	PLEKHA6	pleckstrin homology domain containing A6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093705	SNTB2	syntrophin beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093705	SNTB2	syntrophin beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093705	SNTB2	syntrophin beta 2	gene	DOID:1115	sarcoma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093705	SNTB2	syntrophin beta 2	gene	DOID:3275	thymoma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093705	SNTB2	syntrophin beta 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12093705	SNTB2	syntrophin beta 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093705	SNTB2	syntrophin beta 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736221	D	RGD:9068941	20220825	MouseDO		OMIM:613282 | OMIM:613387	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:733484	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:10534	stomach cancer		ISO	RGD:733484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25390692
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733484	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733484	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12093716	PGRMC1	progesterone receptor membrane component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:4145242	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12093723	N4BP3	NEDD4 binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4145242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0050580	hereditary lymphedema		ISO	RGD:733488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary congenital lymphedema	PMID:10835628|PMID:12960217|PMID:17250670|PMID:20301417|PMID:23074044|PMID:25741868|PMID:30232381|PMID:30582441|PMID:34681005|PMID:41328432
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:733488	D	RGD:7240710	20180912	OMIM			
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:733488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I | ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 1	PMID:10835628|PMID:12960217|PMID:15904433|PMID:17250670|PMID:19002718|PMID:19289394|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005|PMID:41328432|PMID:9817924
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:0070212	hereditary lymphedema I		ISO	RGD:733488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary lymphedema type I | ClinVar Annotator: match by term: Milroy's disease	PMID:10835628|PMID:12960217|PMID:15904433|PMID:17250670|PMID:19002718|PMID:19289394|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005|PMID:41328432|PMID:9817924
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1475	lymphangioma		ISO	RGD:733488	D	RGD:9068941	20200609	RGD		protein:increased expression:;lymphatic endothelial cell:	PMID:17584927|REF_RGD_ID:8552338
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1520	colon carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19002718|PMID:24167460
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:1909	melanoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:2340	craniosynostosis		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:19002718|PMID:24167460
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:3307	teratoma		ISO	RGD:733488	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:733488	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:3982	Meige syndrome		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharospasm-oromandibular dystonia syndrome	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:418	systemic scleroderma		ISO	RGD:733488	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:21865112|REF_RGD_ID:8552335
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25239121
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:4977	lymphedema		ISO	RGD:733488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Early onset lymphedema | ClinVar Annotator: match by term: Lymphedema	PMID:10835628|PMID:12960217|PMID:17250670|PMID:19002718|PMID:20301417|PMID:23074044|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:34681005|PMID:41328432
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10835628|PMID:15561887|PMID:15904433|PMID:19002718|PMID:24167460|PMID:25741868|PMID:28492532|PMID:31974414|PMID:36538874|PMID:39392797
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:733488	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28991257
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9001525	Congenital Heart Defects, Multiple Types, 7		ISO	RGD:733488	D	RGD:7240710	20200226	OMIM			
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9001525	Congenital Heart Defects, Multiple Types, 7		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7 | ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7	PMID:20301417|PMID:23074044|PMID:25741868|PMID:28991257|PMID:30232381|PMID:30582441|PMID:38713105
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:19002718|PMID:24167460
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19002718|PMID:24167460
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal edema	PMID:12960217|PMID:17250670|PMID:20301417|PMID:24167460|PMID:25741868|PMID:30232381|PMID:30582441|PMID:31564432|PMID:33027564|PMID:34681005
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart defects, multiple types	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:733488	D	RGD:7240710	20180130	OMIM			
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary infantile hemangioma | ClinVar Annotator: match by term: HEMANGIOMA, HEREDITARY CAPILLARY	PMID:25741868
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093731	FLT4	fms related receptor tyrosine kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:0050741	alcohol dependence		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alcohol dependence	PMID:25741868
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1349486	D	RGD:7240710	20260812	OMIM			
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:0112214	developmental and epileptic encephalopathy 78		ISO	RGD:1349486	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 78 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 78 | ClinVar Annotator: match by term: GABRA2-related condition	PMID:25741868|PMID:28492532|PMID:29422393|PMID:29961870|PMID:31032849
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:0112214	developmental and epileptic encephalopathy 78	susceptibility	ISO	RGD:1349486	D	RGD:7240710	20260812	OMIM			
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1059	intellectual disability		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:12849	autistic disorder		ISO	RGD:1349486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18821008
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:12849	autistic disorder		ISO	RGD:1349486	D	RGD:9068941	20200609	RGD		DNA:SNP: :	PMID:16080114|REF_RGD_ID:6480256
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1324	lung cancer		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1349486	D	RGD:9068941	20231026	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:1349486	D	RGD:9068941	20231019	RGD		DNA:SNPs:multiple:	PMID:15024690|REF_RGD_ID:6480257
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1826	epilepsy		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:1909	melanoma		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:2030	anxiety disorder		ISO	RGD:1349486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313124
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:630	genetic disease		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19833324|PMID:20133874
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9006302	Binge Drinking		ISO	RGD:61856	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9975	cocaine dependence		ISO	RGD:61856	D	RGD:9068941	20250529	RGD		mRNA:increased expression: prefrontal cortex (rat)	PMID:34965406|REF_RGD_ID:616363144
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9975	cocaine dependence	sexual_dimorphism	ISO	RGD:61856	D	RGD:9068941	20250529	RGD		mRNA:decreased expression: amygdala (rat)	PMID:34965406|REF_RGD_ID:616363144
12093765	GABRA2	gamma-aminobutyric acid type A receptor subunit alpha2	gene	DOID:9976	heroin dependence		ISO	RGD:1349486	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19833324
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:69113	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:69113	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003426
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12093782	PDK4	pyruvate dehydrogenase kinase 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69113	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:21182459|PMID:31809757|PMID:40480416
12093797	NOTCH2	notch receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733357	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12093797	NOTCH2	notch receptor 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:22006338|PMID:23917401|PMID:24140581|PMID:27993330
12093797	NOTCH2	notch receptor 2	gene	DOID:0111365	benign familial hematuria		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	
12093797	NOTCH2	notch receptor 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:736047	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
12093797	NOTCH2	notch receptor 2	gene	DOID:1074	kidney failure		ISO	RGD:733357	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
12093797	NOTCH2	notch receptor 2	gene	DOID:10892	hypospadias		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:10907	microcephaly		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093797	NOTCH2	notch receptor 2	gene	DOID:11111	hydronephrosis		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:733357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:11836	clubfoot		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:34930662|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093797	NOTCH2	notch receptor 2	gene	DOID:13580	cholestasis		ISO	RGD:733357	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:15897231|PMID:19445024|PMID:21378985|PMID:23389697|PMID:25314575|PMID:25564152|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:1612	breast cancer		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:1682	congenital heart disease		ISO	RGD:733357	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital heart anomalies | ClinVar Annotator: match by term: Congenital heart disease | ClinVar Annotator: match by term: congenital heart defect	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
12093797	NOTCH2	notch receptor 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:733357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16773578|PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:1909	melanoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:2355	anemia		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:2736	Hajdu-Cheney syndrome		ISO	RGD:733357	D	RGD:7240710	20180130	OMIM			
12093797	NOTCH2	notch receptor 2	gene	DOID:2736	Hajdu-Cheney syndrome		ISO	RGD:733357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acroosteolysis with osteoporosis and changes in skull and mandible | ClinVar Annotator: match by term: HAJDU-CHENEY SYNDROME | ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition | ClinVar Annotator: match by term: SERPENTINE FIBULA-POLYCYSTIC KIDNEY SYNDROME	PMID:16199547|PMID:16773578|PMID:17576681|PMID:19445024|PMID:21378985|PMID:21378989|PMID:21681853|PMID:22209762|PMID:22488849|PMID:22891273|PMID:22891276|PMID:23389697|PMID:25016221|PMID:25741868|PMID:26184537|PMID:26627824|PMID:27312922|PMID:27592446|PMID:27993330|PMID:28454995|PMID:28492532|PMID:28512196|PMID:28522570|PMID:28566479|PMID:28776642|PMID:28938420|PMID:28941602|PMID:29100090|PMID:29566451|PMID:29698804|PMID:29844865|PMID:30074189|PMID:30304577|PMID:30366773|PMID:31130284|PMID:31450232|PMID:31595186|PMID:32164334|PMID:32221475|PMID:32368696|PMID:32436246|PMID:32772338|PMID:33448881|PMID:34332988|PMID:34906515|PMID:34930662|PMID:35101336|PMID:35567760|PMID:35885997|PMID:36622389|PMID:39202394|PMID:40336196|PMID:8755249|PMID:9536098
12093797	NOTCH2	notch receptor 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:733357	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	
12093797	NOTCH2	notch receptor 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:733357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:16773578|PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:733357	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
12093797	NOTCH2	notch receptor 2	gene	DOID:3068	glioblastoma		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12093797	NOTCH2	notch receptor 2	gene	DOID:3069	malignant astrocytoma		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12093797	NOTCH2	notch receptor 2	gene	DOID:3070	high grade glioma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093797	NOTCH2	notch receptor 2	gene	DOID:3149	keratoacanthoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratoacanthoma	PMID:27283355|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:3275	thymoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12093797	NOTCH2	notch receptor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:733357	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:733357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093797	NOTCH2	notch receptor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733357	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093797	NOTCH2	notch receptor 2	gene	DOID:540	strabismus		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:733357	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093797	NOTCH2	notch receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:576	proteinuria		ISO	RGD:733357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:16773578|PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:630	genetic disease		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22209762|PMID:22488849|PMID:25741868|PMID:28454995|PMID:28492532|PMID:35567760|PMID:39202394
12093797	NOTCH2	notch receptor 2	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:733357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:16773578|PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093797	NOTCH2	notch receptor 2	gene	DOID:8488	polyhydramnios		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868|PMID:28492532|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30670679
12093797	NOTCH2	notch receptor 2	gene	DOID:9000363	Hematuria		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	
12093797	NOTCH2	notch receptor 2	gene	DOID:9000784	Fibrosis		ISO	RGD:733357	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
12093797	NOTCH2	notch receptor 2	gene	DOID:9000807	Megaduodenum		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megacystis	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:9000812	Acroosteolysis Dominant Type		ISO	RGD:733357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acroosteolysis dominant type	PMID:21378985|PMID:21378989|PMID:22209762|PMID:22488849|PMID:22891273|PMID:22891276|PMID:23389697|PMID:25741868|PMID:26627824|PMID:27312922|PMID:28454995|PMID:28492532|PMID:28512196|PMID:28776642|PMID:28938420|PMID:28941602|PMID:29566451|PMID:30366773|PMID:31595186|PMID:35567760|PMID:39202394|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:733357	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: marker/mechanism	PMID:32715474
12093797	NOTCH2	notch receptor 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:733357	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733357	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:16773578|PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:9002904	Primitive Neuroectodermal Tumors		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12093797	NOTCH2	notch receptor 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
12093797	NOTCH2	notch receptor 2	gene	DOID:9003507	Premature Birth		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:21378989|PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
12093797	NOTCH2	notch receptor 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30670679
12093797	NOTCH2	notch receptor 2	gene	DOID:9004898	Jaundice		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868
12093797	NOTCH2	notch receptor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17804716
12093797	NOTCH2	notch receptor 2	gene	DOID:9005616	Micrognathism		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:34930662
12093797	NOTCH2	notch receptor 2	gene	DOID:9005695	Malnutrition		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	
12093797	NOTCH2	notch receptor 2	gene	DOID:9005883	Pleural Effusion		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
12093797	NOTCH2	notch receptor 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3188	D	RGD:9068941	20200609	RGD			PMID:11971902|REF_RGD_ID:625426
12093797	NOTCH2	notch receptor 2	gene	DOID:9006379	Follicular Cyst		ISO	RGD:733357	D	RGD:9068941	20231102	CTD		CTD Direct Evidence: therapeutic	PMID:37277016
12093797	NOTCH2	notch receptor 2	gene	DOID:9006737	Monoclonal B-Cell Lymphocytosis		ISO	RGD:733357	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Monoclonal B-Cell Lymphocytosis	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093797	NOTCH2	notch receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093797	NOTCH2	notch receptor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:9007840	Chylothorax		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chylothorax	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:28492532
12093797	NOTCH2	notch receptor 2	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	
12093797	NOTCH2	notch receptor 2	gene	DOID:9008932	ALAGILLE SYNDROME 2		ISO	RGD:733357	D	RGD:7240710	20240214	OMIM			
12093797	NOTCH2	notch receptor 2	gene	DOID:9008932	ALAGILLE SYNDROME 2		ISO	RGD:733357	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAGILLE SYNDROME 2 | ClinVar Annotator: match by term: Alagille syndrome 2	PMID:19445024|PMID:21378985|PMID:23389697|PMID:25741868|PMID:26627824|PMID:28492532|PMID:29698804|PMID:30366773|PMID:35101336
12093797	NOTCH2	notch receptor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696
12093797	NOTCH2	notch receptor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093797	NOTCH2	notch receptor 2	gene	DOID:9245	Alagille syndrome		ISO	RGD:733357	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Alagille syndrome 1 | ClinVar Annotator: match by term: Alagille syndrome 2	PMID:16773578|PMID:24728327|PMID:25016221|PMID:25741868|PMID:28492532|PMID:28512196|PMID:28566479|PMID:28776642|PMID:28941602|PMID:31749841
12093797	NOTCH2	notch receptor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372903
12093797	NOTCH2	notch receptor 2	gene	DOID:9538	multiple myeloma		ISO	RGD:733357	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow (human)	PMID:14726396|REF_RGD_ID:1580763
12093797	NOTCH2	notch receptor 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:733357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:21378985|PMID:21378989|PMID:22891273|PMID:22891276|PMID:25741868|PMID:27312922|PMID:28492532|PMID:8755249
12093839	MRO	maestro	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093839	MRO	maestro	gene	DOID:10534	stomach cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093839	MRO	maestro	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093839	MRO	maestro	gene	DOID:1115	sarcoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093839	MRO	maestro	gene	DOID:3070	high grade glioma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093839	MRO	maestro	gene	DOID:3275	thymoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093839	MRO	maestro	gene	DOID:4362	cervical cancer		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093839	MRO	maestro	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12093839	MRO	maestro	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093839	MRO	maestro	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12093839	MRO	maestro	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342837	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12093839	MRO	maestro	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093839	MRO	maestro	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093856	OSCAR	osteoclast associated Ig-like receptor	gene	DOID:1115	sarcoma		ISO	RGD:1603587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093856	OSCAR	osteoclast associated Ig-like receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093856	OSCAR	osteoclast associated Ig-like receptor	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:1559897	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:1324	lung cancer		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:3070	high grade glioma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:3275	thymoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093870	FAM76B	family with sequence similarity 76 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093899	CABP7	calcium binding protein 7	gene	DOID:1909	melanoma		ISO	RGD:1348796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:1324	lung cancer		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:1909	melanoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093908	TMEM39B	transmembrane protein 39B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093924	MYH15	myosin heavy chain 15	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12093924	MYH15	myosin heavy chain 15	gene	DOID:0051061	stroke		ISO	RGD:1348086	D	RGD:9068941	20200609	RGD		DNA:snp:exon:EX28T>C rs3900940 (human)	PMID:19752551|REF_RGD_ID:2317144
12093924	MYH15	myosin heavy chain 15	gene	DOID:10534	stomach cancer		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093924	MYH15	myosin heavy chain 15	gene	DOID:1115	sarcoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093924	MYH15	myosin heavy chain 15	gene	DOID:11830	myopia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12093924	MYH15	myosin heavy chain 15	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
12093924	MYH15	myosin heavy chain 15	gene	DOID:1324	lung cancer		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093924	MYH15	myosin heavy chain 15	gene	DOID:1826	epilepsy		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12093924	MYH15	myosin heavy chain 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12093924	MYH15	myosin heavy chain 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12093924	MYH15	myosin heavy chain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1348086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093924	MYH15	myosin heavy chain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093924	MYH15	myosin heavy chain 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093924	MYH15	myosin heavy chain 15	gene	DOID:9000528	Coronary Disease		ISO	RGD:1348086	D	RGD:9068941	20200609	RGD		DNA:snp:exon:EX28T>C rs3900940 (human)	PMID:18073581|REF_RGD_ID:2317145
12093924	MYH15	myosin heavy chain 15	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12093924	MYH15	myosin heavy chain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12093924	MYH15	myosin heavy chain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28314734
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:10126	keratoconus		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1343110	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291589
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:1115	sarcoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:1909	melanoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:4362	cervical cancer		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:4586	familial meningioma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:25741868
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1343110	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1343110	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093968	FNDC3B	fibronectin type III domain containing 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:737210	D	RGD:9068941	20220825	MouseDO			
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0070789	cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome		ISO	RGD:732575	D	RGD:7240710	20260805	OMIM			
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0070789	cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome		ISO	RGD:732575	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: CATARACT, ALOPECIA, ORAL MUCOSAL DISORDER, AND PSORIASIS-LIKE SYNDROME	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type		ISO	RGD:732575	D	RGD:7240710	20190911	OMIM			
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:0112283	spondyloepiphyseal dysplasia Kondo-Fu type		ISO	RGD:732575	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MBTPS1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE | ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, kondo-fu type	PMID:25741868|PMID:28492532|PMID:30046013|PMID:30099045|PMID:32064983
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:10534	stomach cancer		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:1115	sarcoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:1324	lung cancer		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:1909	melanoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:3070	high grade glioma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:4362	cervical cancer		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:630	genetic disease		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12093997	MBTPS1	membrane bound transcription factor peptidase, site 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094024	RCC1L	RCC1 like	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1316823	D	RGD:9068941	20200609	RGD			PMID:12073013|REF_RGD_ID:1580600
12094024	RCC1L	RCC1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094024	RCC1L	RCC1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1316823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094024	RCC1L	RCC1 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094024	RCC1L	RCC1 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094039	KNDC1	kinase non-catalytic C-lobe domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:1115	sarcoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:14228	oligospermia		ISO	RGD:1351229	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oligospermia	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094066	TBC1D25	TBC1 domain family member 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1321014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
12094080	SALL3	spalt like transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1321014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15282310
12094080	SALL3	spalt like transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094080	SALL3	spalt like transcription factor 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1321014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12094088	PYY	peptide YY	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094088	PYY	peptide YY	gene	DOID:0080074	neural tube defect		ISO	RGD:1348512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17400914
12094088	PYY	peptide YY	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1348512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11709213
12094088	PYY	peptide YY	gene	DOID:13250	diarrhea		ISO	RGD:1348512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19925840
12094088	PYY	peptide YY	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12094088	PYY	peptide YY	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094088	PYY	peptide YY	gene	DOID:9001109	Anorexia		ISO	RGD:1348512	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22903826|PMID:29689362
12094088	PYY	peptide YY	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094088	PYY	peptide YY	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1348512	D	RGD:9068941	20200609	RGD		protein:decreased expression	PMID:17045646|REF_RGD_ID:1625281
12094088	PYY	peptide YY	gene	DOID:9008385	Vomiting		ISO	RGD:1348512	D	RGD:9068941	20231102	CTD		CTD Direct Evidence: marker/mechanism	PMID:33581213|PMID:37286030
12094088	PYY	peptide YY	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348512	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094088	PYY	peptide YY	gene	DOID:9970	obesity		ISO	RGD:1348512	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition	PMID:10898754|PMID:11825645|PMID:16368708
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0081168	HMG-CoA synthase 2 deficiency		ISO	RGD:737571	D	RGD:7240710	20180130	OMIM			
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:0081168	HMG-CoA synthase 2 deficiency		ISO	RGD:737571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HMG-CoA synthase-2 deficiency | ClinVar Annotator: match by term: HMGCS2-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	PMID:11228257|PMID:11479731|PMID:12647205|PMID:16199547|PMID:20346956|PMID:23751782|PMID:25511235|PMID:25741868|PMID:28492532|PMID:30283815|PMID:30477625|PMID:31910233|PMID:32259399|PMID:32952630|PMID:33045405|PMID:35308163|PMID:38469099
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1115	sarcoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver, mitochondrion (rat)	PMID:12399220|REF_RGD_ID:2326121
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:1826	epilepsy		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:20346956|PMID:23751782|PMID:25511235|PMID:28492532
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:3650	lactic acidosis		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:737571	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:630	genetic disease		ISO	RGD:737571	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737571	D	RGD:9068941	20200609	RGD			PMID:28867541|REF_RGD_ID:14975299
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9000972	Fever		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9002801	Recurrence		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925|PMID:27816970
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004108	Fused Kidney		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004484	Sepsis		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9004866	Ataxia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:33045405
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:10892723|REF_RGD_ID:2326126
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737571	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2804	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:7902069|REF_RGD_ID:2326135
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737571	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:28492532|PMID:30477625|PMID:31910233|PMID:33045405|PMID:38469099
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737571	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27816970
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9008972	Hyperammonemia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:936	brain disease		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12094098	HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2	gene	DOID:9993	hypoglycemia		ISO	RGD:737571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:10534	stomach cancer		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:1909	melanoma		ISO	RGD:1352050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:4362	cervical cancer		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094112	PLA2G4D	phospholipase A2 group IVD	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:7240710	20190315	OMIM			
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:0060551	poikiloderma with neutropenia		ISO	RGD:1606230	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POIKILODERMA WITH NEUTROPENIA | ClinVar Annotator: match by term: Poikiloderma with neutropenia | ClinVar Annotator: match by term: USB1-related condition	PMID:16199547|PMID:17576681|PMID:20004881|PMID:20618321|PMID:20817924|PMID:21271650|PMID:21872685|PMID:21967010|PMID:23190533|PMID:24033266|PMID:25044170|PMID:25741868|PMID:27612988|PMID:28492532|PMID:29982244|PMID:31522452|PMID:32897901|PMID:9536098
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606230	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094135	USB1	U6 snRNA biogenesis phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1606230	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12094146	TEX12	testis expressed 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094146	TEX12	testis expressed 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094146	TEX12	testis expressed 12	gene	DOID:10534	stomach cancer		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094146	TEX12	testis expressed 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1351277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094146	TEX12	testis expressed 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094188	ARRDC1	arrestin domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094219	MIR448	microRNA mir-448	gene	DOID:12858	Huntington's disease		ISO	RGD:1607607	D	RGD:9068941	20200609	RGD		up-regulated	PMID:21035445|REF_RGD_ID:11041745
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:0050758	metabolic acidosis	treatment	ISO	RGD:628620	D	RGD:9068941	20200609	RGD			PMID:16954343|REF_RGD_ID:9999224
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:0070388	developmental and epileptic encephalopathy 102		ISO	RGD:730997	D	RGD:7240710	20220608	OMIM			
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:0070388	developmental and epileptic encephalopathy 102		ISO	RGD:730997	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 102 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 102	PMID:25741868
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:3070	high grade glioma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:6039	uveal melanoma		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:630	genetic disease		ISO	RGD:730997	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:628620	D	RGD:9068941	20200609	RGD			PMID:20036385|REF_RGD_ID:9999227
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:9007090	Experimental Seizures		ISO	RGD:628620	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus	PMID:21138736|REF_RGD_ID:9999229
12094290	SLC38A3	solute carrier family 38 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:730997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0050795	cone dystrophy		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISO	RGD:1314604	D	RGD:7240710	20180130	OMIM			
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:0080181	PHARC syndrome		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABHD12-related condition | ClinVar Annotator: match by term: PHARC syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT	PMID:17576681|PMID:20797687|PMID:24697911|PMID:25741868|PMID:26257172|PMID:26467025|PMID:28492532|PMID:29571850|PMID:29625443|PMID:30311386|PMID:31690835|PMID:34085946|PMID:34573385|PMID:37803361|PMID:9536098
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:10534	stomach cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:1115	sarcoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:1324	lung cancer		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:3275	thymoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:5723	optic atrophy		ISO	RGD:1314604	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:630	genetic disease		ISO	RGD:1314604	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22938382|PMID:24027063|PMID:25741868|PMID:28492532
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24027063|PMID:25741868|PMID:28492532|PMID:30311386
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094313	ABHD12	abhydrolase domain containing 12, lysophospholipase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094333	HOXB3	homeobox B3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12094333	HOXB3	homeobox B3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321880	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34652879
12094333	HOXB3	homeobox B3	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1321880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18351244
12094333	HOXB3	homeobox B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094359	LIMS1	LIM zinc finger domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:0070594	spermatogenic failure 95		ISO	RGD:1603569	D	RGD:7240710	20240821	OMIM			
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:12336	male infertility		ISO	RGD:1619670	D	RGD:9068941	20231005	MouseDO			
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:4362	cervical cancer		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:9008934	Van der Woude Syndrome 2		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Van der Woude syndrome 2	PMID:25741868
12094400	CFAP57	cilia and flagella associated protein 57	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094441	ME2	malic enzyme 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094441	ME2	malic enzyme 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094441	ME2	malic enzyme 2	gene	DOID:1115	sarcoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094441	ME2	malic enzyme 2	gene	DOID:1909	melanoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094441	ME2	malic enzyme 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12094441	ME2	malic enzyme 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094441	ME2	malic enzyme 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094441	ME2	malic enzyme 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094441	ME2	malic enzyme 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:39401966
12094441	ME2	malic enzyme 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1310321	D	RGD:9068941	20220224	RGD		mRNA:increased expression:right  and right ventricles	PMID:23794090|REF_RGD_ID:151361111
12094441	ME2	malic enzyme 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094441	ME2	malic enzyme 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094441	ME2	malic enzyme 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094464	BLVRB	biliverdin reductase B	gene	DOID:1324	lung cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094464	BLVRB	biliverdin reductase B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12094464	BLVRB	biliverdin reductase B	gene	DOID:4362	cervical cancer		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094464	BLVRB	biliverdin reductase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094464	BLVRB	biliverdin reductase B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12094464	BLVRB	biliverdin reductase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094464	BLVRB	biliverdin reductase B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12094464	BLVRB	biliverdin reductase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094473	TMEM205	transmembrane protein 205	gene	DOID:1909	melanoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094473	TMEM205	transmembrane protein 205	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094473	TMEM205	transmembrane protein 205	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094473	TMEM205	transmembrane protein 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316516	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094481	BCCIP	BRCA2 and CDKN1A interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:0080600	COVID-19		ISO	RGD:1320943	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:1909	melanoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320943	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1320943	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094494	DAPP1	dual adaptor of phosphotyrosine and 3-phosphoinositides 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:3275	thymoma		ISO	RGD:1606460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094511	CMBL	carboxymethylenebutenolidase homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094531	SGO2	shugoshin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094531	SGO2	shugoshin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094531	SGO2	shugoshin 2	gene	DOID:1115	sarcoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094531	SGO2	shugoshin 2	gene	DOID:1909	melanoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094531	SGO2	shugoshin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12094531	SGO2	shugoshin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094531	SGO2	shugoshin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094531	SGO2	shugoshin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12094531	SGO2	shugoshin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094531	SGO2	shugoshin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:1115	sarcoma		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:1909	melanoma		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1349681	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12094555	USP21	ubiquitin specific peptidase 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:1909	melanoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094572	FAM114A1	family with sequence similarity 114 member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094592	GAK	cyclin G associated kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:10534	stomach cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094592	GAK	cyclin G associated kinase	gene	DOID:1115	sarcoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:1324	lung cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094592	GAK	cyclin G associated kinase	gene	DOID:14330	Parkinson's disease		ISO	RGD:731643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711177
12094592	GAK	cyclin G associated kinase	gene	DOID:1909	melanoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:3275	thymoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:4362	cervical cancer		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094592	GAK	cyclin G associated kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094592	GAK	cyclin G associated kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:731643	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094592	GAK	cyclin G associated kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12094592	GAK	cyclin G associated kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094592	GAK	cyclin G associated kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094592	GAK	cyclin G associated kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094648	DEPDC1	DEP domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12094648	DEPDC1	DEP domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352985	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:0070724	dental radicular dysplasia		ISO	RGD:1352985	D	RGD:7240710	20260603	OMIM			
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:0070724	dental radicular dysplasia		ISO	RGD:1352985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DENTAL RADICULAR DYSPLASIA	
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:0111550	scalp-ear-nipple syndrome		ISO	RGD:1352985	D	RGD:7240710	20180130	OMIM			
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:0111550	scalp-ear-nipple syndrome		ISO	RGD:1352985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Finlay-Marks Syndrome | ClinVar Annotator: match by term: KCTD1-related condition | ClinVar Annotator: match by term: SCALP-EAR-NIPPLE SYNDROME | ClinVar Annotator: match by term: Scalp-ear-nipple syndrome	PMID:17576681|PMID:23541344|PMID:25741868|PMID:28492532|PMID:31324836|PMID:9536098
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1352985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1352985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094666	KCTD1	potassium channel tetramerization domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094679	IPO4	importin 4	gene	DOID:1115	sarcoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094679	IPO4	importin 4	gene	DOID:1324	lung cancer		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094679	IPO4	importin 4	gene	DOID:1909	melanoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094679	IPO4	importin 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12094679	IPO4	importin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094679	IPO4	importin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094679	IPO4	importin 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094679	IPO4	importin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094679	IPO4	importin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094679	IPO4	importin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12094679	IPO4	importin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094679	IPO4	importin 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12094679	IPO4	importin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094679	IPO4	importin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094713	PCNX1	pecanex 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094713	PCNX1	pecanex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12094713	PCNX1	pecanex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352404	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12094713	PCNX1	pecanex 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094713	PCNX1	pecanex 1	gene	DOID:1115	sarcoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094713	PCNX1	pecanex 1	gene	DOID:1324	lung cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094713	PCNX1	pecanex 1	gene	DOID:1909	melanoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094713	PCNX1	pecanex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094713	PCNX1	pecanex 1	gene	DOID:3275	thymoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094713	PCNX1	pecanex 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12094713	PCNX1	pecanex 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094713	PCNX1	pecanex 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094713	PCNX1	pecanex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094713	PCNX1	pecanex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094713	PCNX1	pecanex 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12094713	PCNX1	pecanex 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094713	PCNX1	pecanex 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094713	PCNX1	pecanex 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12094713	PCNX1	pecanex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094713	PCNX1	pecanex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094713	PCNX1	pecanex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:10534	stomach cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:1115	sarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:3275	thymoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1315395	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:4362	cervical cancer		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:5041	esophageal cancer		ISO	RGD:1315395	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094770	USP32	ubiquitin specific peptidase 32	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:0060234	Carpenter syndrome		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acrocephalopolysyndactyly Type II | ClinVar Annotator: match by term: Acrocephalopolysyndactyly type II | ClinVar Annotator: match by term: CARPENTER SYNDROME | ClinVar Annotator: match by term: Carpenter syndrome	PMID:16199547|PMID:17503333|PMID:21412941|PMID:25741868|PMID:27872624|PMID:28213671|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:1315728	D	RGD:7240710	20180130	OMIM			
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition	PMID:17503333|PMID:17576681|PMID:21412941|PMID:23599695|PMID:24458945|PMID:25741868|PMID:27872624|PMID:28213671|PMID:28492532|PMID:33368989|PMID:9536098
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1315728	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:10534	stomach cancer		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:11193	syndactyly		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:1148	polydactyly		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:11836	clubfoot		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:2340	craniosynostosis		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1315728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27872624|PMID:28213671|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:25741868|PMID:28492532
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1315728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12094810	RAB23	RAB23, member RAS oncogene family	gene	DOID:9565	dextrocardia		ISO	RGD:1315728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dextrocardia	PMID:25741868|PMID:28492532
12094821	MYADML2	myeloid associated differentiation marker like 2	gene	DOID:10534	stomach cancer		ISO	RGD:2303467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094821	MYADML2	myeloid associated differentiation marker like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2303467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:0111992	immunodeficiency 53		ISO	RGD:1353567	D	RGD:7240710	20190315	OMIM			
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:0111992	immunodeficiency 53		ISO	RGD:1353567	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 53 | ClinVar Annotator: match by term: Immunodeficiency 53 | ClinVar Annotator: match by term: RELB-related condition	PMID:25741868|PMID:28492532
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:11716	prediabetes syndrome		ISO	RGD:2321078	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic islet	PMID:10630383|REF_RGD_ID:7777162
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:1612	breast cancer		ISO	RGD:1353567	D	RGD:9068941	20200609	RGD		protein:decreased localization:T cell, nucleus	PMID:9724088|REF_RGD_ID:2298697
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:1612	breast cancer		ISO	RGD:1353567	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:21640702|REF_RGD_ID:7777150
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1353567	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:urinary bladder mucosa, nucleus	PMID:12452071|REF_RGD_ID:2300270
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:3275	thymoma		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1558382	D	RGD:9068941	20200609	RGD			PMID:10940923|REF_RGD_ID:7777149
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1558382	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:5199	ureteral obstruction		ISO	RGD:2321078	D	RGD:9068941	20200609	RGD		protein:increased activity:kidney	PMID:9328931|REF_RGD_ID:7777163
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:557	kidney disease		ISO	RGD:2321078	D	RGD:9068941	20200609	RGD		protein:increased localization:kidney tubule epithelium, nucleus	PMID:22017545|REF_RGD_ID:6483553
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:767	muscular atrophy		ISO	RGD:2321078	D	RGD:9068941	20200609	RGD		protein:decreased localization:soleus, nucleus	PMID:11919155|REF_RGD_ID:7777164
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1558382	D	RGD:9068941	20200609	RGD			PMID:12897145|REF_RGD_ID:2300264
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2321078	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:striatum	PMID:17250675|REF_RGD_ID:2302394
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:2321078	D	RGD:9068941	20200609	RGD			PMID:23196258|REF_RGD_ID:7777161
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:1353567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1558382	D	RGD:9068941	20200609	RGD			PMID:16260626|REF_RGD_ID:7777148
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094827	RELB	RELB proto-oncogene, NF-kB subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606261	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:3275	thymoma		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606261	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1606261	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25482527
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094862	GPCPD1	glycerophosphocholine phosphodiesterase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094891	MYO9A	myosin IXA	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12094891	MYO9A	myosin IXA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:1115	sarcoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12094891	MYO9A	myosin IXA	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:33412162
12094891	MYO9A	myosin IXA	gene	DOID:1324	lung cancer		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12094891	MYO9A	myosin IXA	gene	DOID:14159	obstructive hydrocephalus		ISO	RGD:1551281	D	RGD:9068941	20220825	MouseDO			
12094891	MYO9A	myosin IXA	gene	DOID:1826	epilepsy		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12094891	MYO9A	myosin IXA	gene	DOID:1909	melanoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12094891	MYO9A	myosin IXA	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:3275	thymoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12094891	MYO9A	myosin IXA	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:732261	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Presynaptic congenital myasthenic syndromes	PMID:25741868
12094891	MYO9A	myosin IXA	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:4362	cervical cancer		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12094891	MYO9A	myosin IXA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12094891	MYO9A	myosin IXA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:5041	esophageal cancer		ISO	RGD:732261	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12094891	MYO9A	myosin IXA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094891	MYO9A	myosin IXA	gene	DOID:630	genetic disease		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12094891	MYO9A	myosin IXA	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12094891	MYO9A	myosin IXA	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12094891	MYO9A	myosin IXA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094891	MYO9A	myosin IXA	gene	DOID:9007541	Common Variable Immunodeficiency 15		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased circulating antibody concentration	
12094891	MYO9A	myosin IXA	gene	DOID:9007661	Dwarfism		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12094891	MYO9A	myosin IXA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12094891	MYO9A	myosin IXA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094891	MYO9A	myosin IXA	gene	DOID:9009246	Congenital Myasthenic Syndrome 24		ISO	RGD:732261	D	RGD:7240710	20190315	OMIM			
12094891	MYO9A	myosin IXA	gene	DOID:9009246	Congenital Myasthenic Syndrome 24		ISO	RGD:732261	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYO9A-related condition | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 24, presynaptic	PMID:25741868|PMID:26752647|PMID:27259756|PMID:28492532|PMID:30237576|PMID:33412162
12094891	MYO9A	myosin IXA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12094891	MYO9A	myosin IXA	gene	DOID:9563	bronchiectasis		ISO	RGD:732261	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	
12094948	TLR1	toll like receptor 1	gene	DOID:1024	leprosy		ISO	RGD:1320607	D	RGD:7240710	20260812	OMIM			
12094948	TLR1	toll like receptor 1	gene	DOID:1024	leprosy		ISO	RGD:1320607	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TLR1-related condition	PMID:25741868|PMID:28492532
12094948	TLR1	toll like receptor 1	gene	DOID:1024	leprosy	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20260813	RGD		DNA:snp:cds:p.I602S (human)	PMID:17548585|REF_RGD_ID:7246917
12094948	TLR1	toll like receptor 1	gene	DOID:11400	pyelonephritis	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.S602I (human)	PMID:19543401|REF_RGD_ID:7246906
12094948	TLR1	toll like receptor 1	gene	DOID:13564	aspergillosis	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		DNA:SNPs: :p.R80T, p.N248S (human)	PMID:16461792|REF_RGD_ID:4889535
12094948	TLR1	toll like receptor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:18547625|REF_RGD_ID:4889528
12094948	TLR1	toll like receptor 1	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1320608	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (mouse)	PMID:18256364|REF_RGD_ID:7246909
12094948	TLR1	toll like receptor 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:16493059|REF_RGD_ID:4889525
12094948	TLR1	toll like receptor 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20260115	RGD		DNA:SNPs:intron, exon:rs5743557, rs4833095, rs5743596	PMID:37051380|REF_RGD_ID:630350413
12094948	TLR1	toll like receptor 1	gene	DOID:2986	IgA glomerulonephritis	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		DNA:snps:promoter, cds:g.-414C>T, p.N248S (rs5743557, rs4833095) (human)	PMID:21108742|REF_RGD_ID:7246898
12094948	TLR1	toll like receptor 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:1320607	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:cds:p.N248S, p.S602I (human)	PMID:18091991|REF_RGD_ID:7246918
12094948	TLR1	toll like receptor 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1320607	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:32594150
12094948	TLR1	toll like receptor 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1309975	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum	PMID:19608731|REF_RGD_ID:5128779
12094948	TLR1	toll like receptor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1320608	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (mouse)	PMID:21970496|REF_RGD_ID:7246886
12094948	TLR1	toll like receptor 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1320608	D	RGD:9068941	20200609	RGD			PMID:21970496|REF_RGD_ID:7246886
12094948	TLR1	toll like receptor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
12094948	TLR1	toll like receptor 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1320607	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
12094948	TLR1	toll like receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094948	TLR1	toll like receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12094994	VCAN	versican	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12094994	VCAN	versican	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1349729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12094994	VCAN	versican	gene	DOID:10283	prostate cancer		ISO	RGD:1349729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
12094994	VCAN	versican	gene	DOID:10941	intracranial aneurysm		ISO	RGD:1349729	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs173686 (human)	PMID:16917090|REF_RGD_ID:1598495
12094994	VCAN	versican	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12094994	VCAN	versican	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12094994	VCAN	versican	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349729	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12094994	VCAN	versican	gene	DOID:289	endometriosis		ISO	RGD:1349729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12094994	VCAN	versican	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12094994	VCAN	versican	gene	DOID:5844	myocardial infarction		ISO	RGD:619940	D	RGD:9068941	20200609	RGD			PMID:16311904|REF_RGD_ID:1598497
12094994	VCAN	versican	gene	DOID:630	genetic disease		ISO	RGD:1349729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12094994	VCAN	versican	gene	DOID:8501	fundus dystrophy		ISO	RGD:1349729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12094994	VCAN	versican	gene	DOID:9000065	Myopia 25, Autosomal Dominant		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia 25, autosomal dominant	PMID:25741868|PMID:28492532
12094994	VCAN	versican	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1349729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12094994	VCAN	versican	gene	DOID:9005830	Hyaloideoretinal Degeneration of Wagner		ISO	RGD:1349729	D	RGD:7240710	20180130	OMIM			
12094994	VCAN	versican	gene	DOID:9005830	Hyaloideoretinal Degeneration of Wagner		ISO	RGD:1349729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: VCAN-related condition | ClinVar Annotator: match by term: WAGNER SYNDROME 1 | ClinVar Annotator: match by term: WAGNER VITREORETINOPATHY | ClinVar Annotator: match by term: Wagner disease	PMID:25741868|PMID:28492532
12094994	VCAN	versican	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12094994	VCAN	versican	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:619940	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:16311904|REF_RGD_ID:1598497
12094994	VCAN	versican	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095036	TVP23A	trans-golgi network vesicle protein 23 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095036	TVP23A	trans-golgi network vesicle protein 23 homolog A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12095036	TVP23A	trans-golgi network vesicle protein 23 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095036	TVP23A	trans-golgi network vesicle protein 23 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:0060180	colitis		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: colitis	PMID:25741868
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:2394	ovarian cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9007944	IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION		ISO	RGD:732509	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Immune dysregulation, autoimmunity, and autoinflammation	PMID:25741868
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095048	STXBP3	syntaxin binding protein 3	gene	DOID:9256	colorectal cancer		ISO	RGD:732509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:10763	hypertension		ISO	RGD:621137	D	RGD:9068941	20200609	RGD			PMID:3001599|REF_RGD_ID:2325950
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:10763	hypertension		ISO	RGD:621137	D	RGD:9068941	20200609	RGD		protein:increased expression:adrenal gland, neurohypophysis	PMID:9660082|REF_RGD_ID:2325942
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:733030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:621137	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16619500|REF_RGD_ID:1582109
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733030	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16619500
12095077	RNPEP	arginyl aminopeptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095107	AURKAIP1	aurora kinase A interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1606265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095107	AURKAIP1	aurora kinase A interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095107	AURKAIP1	aurora kinase A interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:3275	thymoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1601987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095120	SMCO4	single-pass membrane protein with coiled-coil domains 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095127	EFNB3	ephrin B3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095127	EFNB3	ephrin B3	gene	DOID:1115	sarcoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095127	EFNB3	ephrin B3	gene	DOID:480	movement disease		ISO	RGD:10509	D	RGD:9068941	20220825	MouseDO			
12095127	EFNB3	ephrin B3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095127	EFNB3	ephrin B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095127	EFNB3	ephrin B3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095135	VAV2	vav guanine nucleotide exchange factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1348740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:1115	sarcoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:4362	cervical cancer		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1348740	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348740	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095178	CCDC14	coiled-coil domain containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060309	syndromic X-linked intellectual disability		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked syndromic intellectual disability	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1348501	D	RGD:7240710	20180130	OMIM			
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:0060800	syndromic X-linked intellectual disability 5		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AP1S2-related condition | ClinVar Annotator: match by term: PETTIGREW SYNDROME | ClinVar Annotator: match by term: Pettigrew syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	PMID:17186471|PMID:18414213|PMID:18428203|PMID:25741868|PMID:28492532|PMID:33847015
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17186471|PMID:18428203|PMID:25741868
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:12849	autistic disorder		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17186471|PMID:18428203|PMID:25741868
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:630	genetic disease		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348501	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348501	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17186471|PMID:18428203|PMID:25741868
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095197	AP1S2	adaptor related protein complex 1 subunit sigma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095224	IMMP2L	inner mitochondrial membrane peptidase subunit 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1350569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356265
12095224	IMMP2L	inner mitochondrial membrane peptidase subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19401682
12095224	IMMP2L	inner mitochondrial membrane peptidase subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:0050562	West syndrome		ISO	RGD:731635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:24768767|PMID:26615199
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:731635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:731635	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:9001503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION		ISO	RGD:731635	D	RGD:7240710	20220216	OMIM			
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:9001503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION		ISO	RGD:731635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation | ClinVar Annotator: match by term: RALGAPA1-related condition	PMID:25741868
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731635	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095241	RALGAPA1	Ral GTPase activating protein catalytic subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095288	FAM83G	family with sequence similarity 83 member G	gene	DOID:3390	palmoplantar keratosis		IAGP		D	RGD:12801476	20250716	OMIA		Hyperkeratosis, palmoplantar, FAM83G-related	PMID:10701186|PMID:12828257|PMID:24832243|PMID:26747202|PMID:29963719|PMID:34796560|PMID:34861369|PMID:37582787
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy | ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:11381124|PMID:12840783|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17576681|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19884007|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:25211533|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:27782108|PMID:28492532|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:31949757|PMID:32065942|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:4793163|PMID:7695699|PMID:8218237|PMID:9536098
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0060942	Ullrich congenital muscular dystrophy 1B		ISO	RGD:1313701	D	RGD:7240710	20240320	OMIM			
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0060942	Ullrich congenital muscular dystrophy 1B		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B	PMID:11381124|PMID:15689448|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:11381124|PMID:15689448|PMID:16199547|PMID:18414213|PMID:18825676|PMID:19309692|PMID:19884007|PMID:20576434|PMID:20976770|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25204870|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29419890|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:34167565|PMID:37091313|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24801232|PMID:25204870|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27104957|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27782108|PMID:27854218|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33441455|PMID:33567613|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:15365990|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17078022|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:19949035|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23757202|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27447704|PMID:27782108|PMID:27854218|PMID:28098982|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:40225934|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:11381124|PMID:11865138|PMID:12840783|PMID:15365990|PMID:15563506|PMID:15689448|PMID:16130093|PMID:16199547|PMID:17078022|PMID:17576681|PMID:17785673|PMID:1788629|PMID:17886299|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:18852439|PMID:19309692|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20576434|PMID:20729548|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22075033|PMID:23040494|PMID:23326386|PMID:23940025|PMID:24033266|PMID:24038877|PMID:24271325|PMID:24314752|PMID:24801232|PMID:25204870|PMID:25211533|PMID:25380242|PMID:25533456|PMID:25535305|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27363342|PMID:27421963|PMID:27447704|PMID:27782108|PMID:27854218|PMID:28098982|PMID:28492532|PMID:28600779|PMID:28660205|PMID:28688748|PMID:28831785|PMID:29172004|PMID:29406609|PMID:29419890|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:30963254|PMID:31127727|PMID:31949757|PMID:32053901|PMID:32065942|PMID:32403337|PMID:32528171|PMID:33101984|PMID:33146414|PMID:33250842|PMID:33567613|PMID:34106991|PMID:34167565|PMID:34440373|PMID:35387801|PMID:36982625|PMID:37091313|PMID:37526466|PMID:37569848|PMID:38374194|PMID:39135765|PMID:39367186|PMID:40225934|PMID:4793163|PMID:7695699|PMID:7785673|PMID:8218237|PMID:8782832|PMID:9536098
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061198	Bethlem myopathy 1A	susceptibility	ISO	RGD:1313701	D	RGD:9068941	20211217	RGD		Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)	PMID:8782832|REF_RGD_ID:1600934
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061199	Bethlem myopathy 1B		ISO	RGD:1313701	D	RGD:7240710	20240320	OMIM			
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0061199	Bethlem myopathy 1B		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1B	PMID:11381124|PMID:15689448|PMID:19309692|PMID:19884007|PMID:20576434|PMID:20976770|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0080600	COVID-19		ISO	RGD:1313701	D	RGD:9068941	20211217	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0081337	congenital myopathy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11381124|PMID:17886299|PMID:19309692|PMID:20576434|PMID:20729548|PMID:20981092|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30467950|PMID:30564623|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:8659346	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency	PMID:25741868|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:1115	sarcoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:11162	respiratory failure		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:12840783|PMID:15689448|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1313701	D	RGD:9068941	20211217	RGD			PMID:28302172|REF_RGD_ID:32716376
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1313701	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Leber's amaurosis	PMID:19884007|PMID:25741868|PMID:28492532|PMID:29419890|PMID:30564623|PMID:31127727|PMID:32165824|PMID:34167565
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:1826	epilepsy		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:12840783|PMID:15689448|PMID:16199547|PMID:19884007|PMID:20976770|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:2841	asthma		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:423	myopathy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:12840783|PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1313701	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:12840783|PMID:15689448|PMID:23040494|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:5844	myocardial infarction		ISO	RGD:1313701	D	RGD:9068941	20250918	RGD		mRNA:increased expression:blood	PMID:29399125|REF_RGD_ID:626469561
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:630	genetic disease		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:19344236|PMID:24038877|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9724608
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:12840783|PMID:15689448|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:767	muscular atrophy		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:8398	osteoarthritis		ISO	RGD:1313701	D	RGD:9068941	20211217	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9000495	Tremor		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1305585	D	RGD:9068941	20211217	RGD		Protein:increased expression:liver	PMID:7791542|REF_RGD_ID:1600938
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313701	D	RGD:9068941	20211217	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:11381124|PMID:15689448|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25204870|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12840783|PMID:15689448|PMID:23040494|PMID:25741868|PMID:26467025|PMID:28492532
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:11381124|PMID:19309692|PMID:20576434|PMID:21280092|PMID:24033266|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30609409|PMID:32065942|PMID:34106991|PMID:37526466|PMID:38374194
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9007626	Myosclerosis, Autosomal Recessive		ISO	RGD:1313701	D	RGD:7240710	20211215	OMIM			
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9007626	Myosclerosis, Autosomal Recessive		ISO	RGD:1313701	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOSCLEROSIS, CONGENITAL, OF LOWENTHAL | ClinVar Annotator: match by term: Myosclerosis	PMID:11381124|PMID:12840783|PMID:15689448|PMID:18414213|PMID:18852439|PMID:19309692|PMID:20576434|PMID:21280092|PMID:23040494|PMID:24033266|PMID:24271325|PMID:24314752|PMID:25535305|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27447704|PMID:28492532|PMID:29774307|PMID:30564623|PMID:30609409|PMID:32065942|PMID:33567613|PMID:34106991|PMID:37091313|PMID:37526466|PMID:38374194|PMID:4793163
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:30564623|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15689448|PMID:24271325|PMID:25741868|PMID:27159402|PMID:28492532|PMID:30564623|PMID:33567613|PMID:37091313
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1313701	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:936	brain disease		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095327	COL6A2	collagen type VI alpha 2 chain	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313701	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:17886299|PMID:20729548|PMID:20981092|PMID:25741868|PMID:28492532|PMID:30467950|PMID:30564623
12095375	TEX46	testis expressed 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:7256452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095398	LOC483954	serpin B4	gene	DOID:10283	prostate cancer		ISO	RGD:1351173	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12095398	LOC483954	serpin B4	gene	DOID:10283	prostate cancer		ISO	RGD:1351173	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12095398	LOC483954	serpin B4	gene	DOID:2773	contact dermatitis		ISO	RGD:1351173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12095398	LOC483954	serpin B4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095398	LOC483954	serpin B4	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1351173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12095410	DMTN	dematin actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322873	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095410	DMTN	dematin actin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095410	DMTN	dematin actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095410	DMTN	dematin actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095410	DMTN	dematin actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095410	DMTN	dematin actin binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12095410	DMTN	dematin actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095410	DMTN	dematin actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095446	PDPN	podoplanin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095446	PDPN	podoplanin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095446	PDPN	podoplanin	gene	DOID:1115	sarcoma		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095446	PDPN	podoplanin	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:61819	D	RGD:9068941	20200609	RGD			PMID:11790662|REF_RGD_ID:2292244
12095446	PDPN	podoplanin	gene	DOID:12215	oligohydramnios		ISO	RGD:61819	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:11839536|REF_RGD_ID:2292243
12095446	PDPN	podoplanin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1606573	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12095446	PDPN	podoplanin	gene	DOID:2527	nephrosis		ISO	RGD:61819	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:glomerulus	PMID:9327748|REF_RGD_ID:632934
12095446	PDPN	podoplanin	gene	DOID:3068	glioblastoma		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD			PMID:16979138|REF_RGD_ID:2292241
12095446	PDPN	podoplanin	gene	DOID:3304	germinoma		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD			PMID:16718353|REF_RGD_ID:2292236
12095446	PDPN	podoplanin	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:1606573	D	RGD:9068941	20200609	RGD			PMID:16528371|REF_RGD_ID:2292237
12095446	PDPN	podoplanin	gene	DOID:4440	seminoma		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD			PMID:17951198|REF_RGD_ID:2292234
12095446	PDPN	podoplanin	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1606573	D	RGD:9068941	20200609	RGD			PMID:18291512|REF_RGD_ID:2292239
12095446	PDPN	podoplanin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095446	PDPN	podoplanin	gene	DOID:8719	in situ carcinoma		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:16736189|REF_RGD_ID:2292235
12095446	PDPN	podoplanin	gene	DOID:874	bacterial pneumonia		ISO	RGD:61819	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:7864138|REF_RGD_ID:2292375
12095446	PDPN	podoplanin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18165897|REF_RGD_ID:2292231
12095446	PDPN	podoplanin	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms	PMID:16528371|REF_RGD_ID:2292237
12095446	PDPN	podoplanin	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1606573	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:16736189|REF_RGD_ID:2292235
12095446	PDPN	podoplanin	gene	DOID:9001542	Albuminuria		ISO	RGD:61819	D	RGD:9068941	20200609	RGD			PMID:18199599|REF_RGD_ID:2292240
12095446	PDPN	podoplanin	gene	DOID:9001834	Peritoneal Neoplasms		ISO	RGD:1606573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22784439
12095446	PDPN	podoplanin	gene	DOID:9005372	Inflammation		ISO	RGD:61819	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:15849211|REF_RGD_ID:2292242
12095446	PDPN	podoplanin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095446	PDPN	podoplanin	gene	DOID:9007480	Hyperoxia		ISO	RGD:61819	D	RGD:9068941	20200609	RGD		protein:increased tyrosine nitration:lung	PMID:12922978|REF_RGD_ID:1302251
12095446	PDPN	podoplanin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095456	GNL2	G protein nucleolar 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095456	GNL2	G protein nucleolar 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095456	GNL2	G protein nucleolar 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12095456	GNL2	G protein nucleolar 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095456	GNL2	G protein nucleolar 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12095456	GNL2	G protein nucleolar 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343978	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095456	GNL2	G protein nucleolar 2	gene	DOID:540	strabismus		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12095456	GNL2	G protein nucleolar 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095456	GNL2	G protein nucleolar 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095456	GNL2	G protein nucleolar 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095456	GNL2	G protein nucleolar 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1343978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:3070	high grade glioma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:3275	thymoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1322849	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322849	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095476	COPS8	COP9 signalosome subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050456	Buruli ulcer disease		ISO	RGD:736532	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BURULI ULCER, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: SLC11A1-related condition	PMID:25741868
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050456	Buruli ulcer disease	susceptibility	ISO	RGD:736532	D	RGD:7240710	20190502	OMIM			
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:point mutation:promoter:-237C>T (human)	PMID:16059695|REF_RGD_ID:5684952
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :1730G>A (human)	PMID:21128323|REF_RGD_ID:5684929
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0060180	colitis		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:19016783|REF_RGD_ID:5684975
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:deletion:3' utr:*55_*58delTGTG (human)	PMID:16734634|REF_RGD_ID:5684949
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:1024	leprosy		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:1024	leprosy		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype (human)	PMID:10608779|REF_RGD_ID:5684972
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:1024	leprosy	susceptibility	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter (human)	PMID:15755200|REF_RGD_ID:5684957
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat, polymorphism:promoter, cds:p.D543N (human)	PMID:16516037|REF_RGD_ID:5684951
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:11335	sarcoidosis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:11335	sarcoidosis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat, SNP:promoter, intron (human)	PMID:22160516|REF_RGD_ID:5684925
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:1324	lung cancer		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:13241	Behcet's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:18998137|REF_RGD_ID:5684936
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:13622	campylobacteriosis		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:18656410|REF_RGD_ID:5684976
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter (human)	PMID:18973068|REF_RGD_ID:5684937
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat, polymorphism, deletions:promoter, cds:p.D543N (human)	PMID:15584484|REF_RGD_ID:5684960
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2841	asthma		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:12847242|REF_RGD_ID:5684966
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron (human)	PMID:21169917|REF_RGD_ID:5684974
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:736532	D	RGD:9068941	20200716	RGD		DNA:deletion:3'UTR:	PMID:24024195|REF_RGD_ID:36049753
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:3021	acute kidney failure		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:3044	food allergy		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:399	tuberculosis		ISO	RGD:736532	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO INFECTION BY | ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to	PMID:25741868
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:736532	D	RGD:7240710	20190502	OMIM			
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:418	systemic scleroderma		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat, polymorphism:promoter, intron: (human)	PMID:17876529|REF_RGD_ID:5684940
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:736532	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter (human)	PMID:10857800|REF_RGD_ID:5684977
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, deletion: :823C>T, p.D543N (human)	PMID:10719815|REF_RGD_ID:5684971
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:7148	rheumatoid arthritis	severity	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter (human)	PMID:12135431|REF_RGD_ID:5684967
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:77	gastrointestinal system disease	onset	ISO	RGD:1347984,RGD:1321344,RGD:730978,RGD:619566	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:SNP: :rs17235416	PMID:29635781|REF_RGD_ID:629136812
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16059695
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter (human)	PMID:11929588|REF_RGD_ID:5684968
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:transition, repeat:promoter:-237C>T (human)	PMID:18340647|REF_RGD_ID:5684939
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16059695
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:insertion/deletion:3' utr (human)	PMID:18340647|REF_RGD_ID:5684939
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:point mutation:promoter:-237C>T (human)	PMID:16059695|REF_RGD_ID:5684952
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :823C>T (human)	PMID:17131479|REF_RGD_ID:5684942
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter (human)	PMID:11929588|REF_RGD_ID:5684968
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat, polymorphisms:promoter, intron:p.D543N (human)	PMID:18454481|REF_RGD_ID:5684938
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease	no_association	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter (human)	PMID:15757519|REF_RGD_ID:5684956
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:8778	Crohn's disease	no_association	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter (human)	PMID:17385031|REF_RGD_ID:5684941
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9000099	Experimental Colitis		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:19116231|REF_RGD_ID:5684934
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:736533	D	RGD:9068941	20200609	RGD		DNA:point mutation (mouse)	PMID:11821237|REF_RGD_ID:5684969
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:17122779|REF_RGD_ID:5684943
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype:promoter (human)	PMID:14960532|REF_RGD_ID:5684961
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:14734525|REF_RGD_ID:5684962
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9005372	Inflammation		ISO	RGD:736532	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: marker/mechanism	PMID:38762191
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9005372	Inflammation		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:17035062|REF_RGD_ID:5684948
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9005723	Multibacillary Leprosy		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:insertion/deletion:3' utr (human)	PMID:11791966|REF_RGD_ID:5684970
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:619566	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:SNP: :rs17235416	PMID:28756021|REF_RGD_ID:629136813
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:deletion:3' utr: (human)	PMID:21233146|REF_RGD_ID:5684928
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:insertion/deletion (human)	PMID:20089160|REF_RGD_ID:5684930
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:736532	D	RGD:9068941	20200609	RGD			PMID:17067929|REF_RGD_ID:5684944
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16597321
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3731865 (human)	PMID:21524304|REF_RGD_ID:5684926
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :274C>T (human)	PMID:19768110|REF_RGD_ID:5684932
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736533	D	RGD:9068941	20200609	RGD			PMID:16550170|REF_RGD_ID:5684950
12095488	SLC11A1	solute carrier family 11 member 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:736532	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter (human)	PMID:15877293|REF_RGD_ID:5684955
12095504	PRDX6	peroxiredoxin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095504	PRDX6	peroxiredoxin 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095504	PRDX6	peroxiredoxin 6	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12095504	PRDX6	peroxiredoxin 6	gene	DOID:14250	Down syndrome		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11771762
12095504	PRDX6	peroxiredoxin 6	gene	DOID:2349	arteriosclerosis		ISO	RGD:736132	D	RGD:9068941	20200609	RGD			PMID:15488866|REF_RGD_ID:1580711
12095504	PRDX6	peroxiredoxin 6	gene	DOID:2773	contact dermatitis		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12095504	PRDX6	peroxiredoxin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095504	PRDX6	peroxiredoxin 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1602898	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:71005	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23692979
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1602898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1602898	D	RGD:9068941	20260430	RGD		mRNA:decreased expression:nasal mucosa	PMID:23136082|REF_RGD_ID:645238743
12095504	PRDX6	peroxiredoxin 6	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1602898	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314398	D	RGD:9068941	20230128	RGD		mRNA:increased expression:heart	PMID:18658259|REF_RGD_ID:155882484
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1314398	D	RGD:9068941	20200609	RGD			PMID:15705784|REF_RGD_ID:1580640
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0080169	tricuspid atresia		ISO	RGD:1550372	D	RGD:9068941	20220825	MouseDO		OMIM:605067	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0080169	tricuspid atresia		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:10888889|REF_RGD_ID:155882483
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0111770	46,XY sex reversal 9		ISO	RGD:1314398	D	RGD:7240710	20180130	OMIM			
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0111770	46,XY sex reversal 9		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL, ZFPM2-RELATED | ClinVar Annotator: match by term: 46,XY sex reversal 9	PMID:24469719|PMID:25741868|PMID:28166811|PMID:28492532|PMID:34008892
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:0111772	46,XY sex reversal 3		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:25196150|REF_RGD_ID:155882481
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD		protein:increased expression:heart:	PMID:18658259|REF_RGD_ID:155882484
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:25196150|REF_RGD_ID:155882481
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:25196150|REF_RGD_ID:155882481
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:3275	thymoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1550372	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:6000	congestive heart failure	exacerbates	ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:18658259|REF_RGD_ID:155882484
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:630	genetic disease		ISO	RGD:1314398	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:7240710	20180130	OMIM			
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9000460	Diaphragmatic Hernia 3		ISO	RGD:1314398	D	RGD:7240710	20180130	OMIM			
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9000460	Diaphragmatic Hernia 3		ISO	RGD:1314398	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diaphragmatic hernia 3	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9003505	Venous Thromboembolism	susceptibility	ISO	RGD:1314398	D	RGD:9068941	20230128	RGD		DNA:SNP: :rs4602861(human)	PMID:28373160|REF_RGD_ID:155882487
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:1314398	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 46 XY differences of sex development | ClinVar Annotator: match by term: 46,XY disorder of sex development	PMID:25741868|PMID:28492532
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1550372	D	RGD:9068941	20230128	RGD			PMID:25196150|REF_RGD_ID:155882481
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095513	ZFPM2	zinc finger protein, FOG family member 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1314398	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17436238
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:3275	thymoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095528	DEPTOR	DEP domain containing MTOR interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344261	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:1115	sarcoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:1324	lung cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:2661	myoepithelioma		ISO	RGD:1321946	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:3275	thymoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321946	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095542	RECQL5	RecQ like helicase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095566	CBX2	chromobox 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1342823	D	RGD:9068941	20200609	RGD			PMID:24885002|REF_RGD_ID:9586732
12095566	CBX2	chromobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095566	CBX2	chromobox 2	gene	DOID:0111776	46,XY sex reversal 5		ISO	RGD:1342823	D	RGD:7240710	20180130	OMIM			
12095566	CBX2	chromobox 2	gene	DOID:0111776	46,XY sex reversal 5		ISO	RGD:1342823	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY sex reversal 5 | ClinVar Annotator: match by term: CBX2-related condition	PMID:25741868|PMID:28492532
12095566	CBX2	chromobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095566	CBX2	chromobox 2	gene	DOID:14447	gonadal dysgenesis	no_association	ISO	RGD:1342823	D	RGD:9068941	20200609	RGD			PMID:23219007|REF_RGD_ID:9586730
12095566	CBX2	chromobox 2	gene	DOID:14448	46,XY complete gonadal dysgenesis		ISO	RGD:1342823	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 46,XY complete gonadal dysgenesis	PMID:25741868
12095566	CBX2	chromobox 2	gene	DOID:1923	disorder of sexual development		ISO	RGD:1342823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
12095566	CBX2	chromobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095566	CBX2	chromobox 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095566	CBX2	chromobox 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1342823	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12095566	CBX2	chromobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:1324	lung cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1322490	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:1909	melanoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:3275	thymoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322490	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30431698
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:4972	myelodysplastic/myeloproliferative neoplasm		ISO	RGD:30309588	D	RGD:9068941	20220825	MouseDO			
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322490	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095574	DIDO1	death inducer-obliterator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12095604	ATE1	arginyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095604	ATE1	arginyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1319626	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095604	ATE1	arginyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12095604	ATE1	arginyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095604	ATE1	arginyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095604	ATE1	arginyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095604	ATE1	arginyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095604	ATE1	arginyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095604	ATE1	arginyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095604	ATE1	arginyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Regional enteritis	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12512038|PMID:12650796|PMID:12673278|PMID:12704363|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15571588|PMID:15712650|PMID:16010583|PMID:16416181|PMID:16669960|PMID:17301648|PMID:17489054|PMID:18240302|PMID:18489434|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20047977|PMID:20332463|PMID:20713205|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22939045|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24047397|PMID:24345423|PMID:24586700|PMID:24597572|PMID:25365249|PMID:25741868|PMID:26042516|PMID:26167078|PMID:26500656|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32597225|PMID:32716958|PMID:33394828
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:7240710	20180130	OMIM			
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11528384|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12630966|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14522785|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15086578|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15620648|PMID:15712650|PMID:15770725|PMID:15812565|PMID:15967635|PMID:15998797|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17301648|PMID:17393391|PMID:17489054|PMID:17576681|PMID:17968944|PMID:18056399|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:18942754|PMID:18955195|PMID:19103559|PMID:19116920|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19479836|PMID:19479837|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20039400|PMID:20047977|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20332463|PMID:20565245|PMID:20713205|PMID:20959815|PMID:21097508|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21596301|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22377804|PMID:22440928|PMID:22509093|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22926499|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23334666|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24595243|PMID:24597572|PMID:24713464|PMID:24803813|PMID:24876985|PMID:25093298|PMID:25136265|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26606664|PMID:26768519|PMID:26774591|PMID:27306066|PMID:27339507|PMID:27373512|PMID:27419275|PMID:27625029|PMID:28008999|PMID:28130683|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28658209|PMID:28750667|PMID:28814775|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29697845|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:30574935|PMID:30693132|PMID:30783801|PMID:30806112|PMID:31681265|PMID:32346654|PMID:32463623|PMID:32597225|PMID:32647028|PMID:32707200|PMID:32716958|PMID:33042144|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:35273242|PMID:35314268|PMID:7825454|PMID:9124059|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLAU SYNDROME | ClinVar Annotator: match by term: Blau syndrome | ClinVar Annotator: match by term: Granulomatous inflammatory arthritis, dermatitis and uveitis, familial | ClinVar Annotator: match by term: JABS SYNDROME | ClinVar Annotator: match by term: Jabs syndrome	PMID:11385576|PMID:11528384|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:14522785|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15554080|PMID:15571588|PMID:15770725|PMID:15812565|PMID:15967635|PMID:16199547|PMID:16278823|PMID:16485124|PMID:16804397|PMID:17157607|PMID:17207093|PMID:17393391|PMID:17576681|PMID:17968944|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18718560|PMID:19479836|PMID:19713276|PMID:20039400|PMID:20084402|PMID:20199415|PMID:20230816|PMID:20565245|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22509093|PMID:22684479|PMID:22926499|PMID:24033266|PMID:24595243|PMID:24713464|PMID:24876985|PMID:25093298|PMID:25416713|PMID:25429073|PMID:25619344|PMID:25741868|PMID:25819062|PMID:26070941|PMID:26606664|PMID:27306066|PMID:27625029|PMID:28130683|PMID:28361096|PMID:28422189|PMID:28492532|PMID:28639104|PMID:28836875|PMID:29178652|PMID:29248579|PMID:29503906|PMID:29570830|PMID:29697845|PMID:30159790|PMID:30166421|PMID:30693132|PMID:30783801|PMID:31760574|PMID:32463623|PMID:32647028|PMID:32707200|PMID:32909274|PMID:33394828|PMID:33692434|PMID:34251956|PMID:34440800|PMID:34573280|PMID:38348033|PMID:38741190|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.E383G (human)	PMID:19116920|REF_RGD_ID:8158051
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.E383K (human)	PMID:15812565|REF_RGD_ID:8547515
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps:cds:p.R334Q, p.R334W, p.L469F (human)	PMID:11528384|REF_RGD_ID:8158040
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050678	Blau syndrome	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps:cds:p.R587C, p.C495Y, p.W490L (human)	PMID:19479837|REF_RGD_ID:8547518
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs3135499) C>A (human)	PMID:27354594|REF_RGD_ID:152177496
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:16891783|REF_RGD_ID:1600781
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060180	colitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20921147|PMID:21471573|REF_RGD_ID:5508727|REF_RGD_ID:5508755
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1314945	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:25741868
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0080176	meningococcal meningitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :SNP8(human)	PMID:23691182|REF_RGD_ID:7800668
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0081267	graft-versus-host disease	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snps, insertion:exons:p.R675W, p.G1881R, c.2936_2937insC (human)	PMID:15090455|REF_RGD_ID:8158050
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0081451	PFAPA syndrome		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds	PMID:21914217|REF_RGD_ID:13204855
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0110892	inflammatory bowel disease 1		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 1	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16485124|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22377804|PMID:22684479|PMID:22926499|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28361096|PMID:28492532|PMID:31760574|PMID:32463623
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1024	leprosy		ISO	RGD:1314945	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Leprosy, susceptibility to, 1	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:104	bacterial infectious disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		associated with Virus Diseases	PMID:21669398|REF_RGD_ID:5508748
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:10457	Legionnaires' disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20685341|REF_RGD_ID:5131443
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:11729	Lyme disease		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:21387014|REF_RGD_ID:5508754
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:11830	myopia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:12176	goiter		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13141	uveitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:21296813|REF_RGD_ID:5508729
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:11875755|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion: : 3020_3021insC (human)	PMID:16267612|REF_RGD_ID:5131514
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Behcet disease	PMID:14597055|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	PMID:15515785|REF_RGD_ID:13204711
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp, insertion:exons:p.R702W, p.L1007insC (human)	PMID:19748964|REF_RGD_ID:8158059
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13250	diarrhea		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:13406	pulmonary sarcoidosis	disease_progression	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:2104C>T (human)	PMID:19679608|REF_RGD_ID:4892066
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1596	depressive disorder		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion: : 3020_3021insC (human)	PMID:16267612|REF_RGD_ID:5131514
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1924	hypogonadism		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:1936	atherosclerosis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:24324141|REF_RGD_ID:8158039
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:20863826|REF_RGD_ID:5508733
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2280	hidradenitis suppurativa		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2355	anemia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2378	relapsing-remitting multiple sclerosis	disease_progression	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs3135499,rs2066842(human)	PMID:20595247|REF_RGD_ID:13204725
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2596	larynx cancer	onset	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2723	dermatitis		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:19467619
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD			PMID:18158963|REF_RGD_ID:5131450
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2841	asthma		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:intron, exon/3'UTR (rs1077861, rs3135500) (human)	PMID:16008671|REF_RGD_ID:5131477
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12115249|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14508222|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:24033266|PMID:24047397|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28166811|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11385576|PMID:11385577|PMID:11425413|PMID:11875755|PMID:11910337|PMID:12019468|PMID:12202985|PMID:12512038|PMID:12557156|PMID:12577202|PMID:12626759|PMID:12650796|PMID:12673278|PMID:12704363|PMID:14765395|PMID:15002819|PMID:15024686|PMID:15044951|PMID:15190267|PMID:15198989|PMID:15320482|PMID:15571588|PMID:15712650|PMID:15770725|PMID:15967635|PMID:16010583|PMID:16199547|PMID:16278823|PMID:16416181|PMID:16485124|PMID:16669960|PMID:17301648|PMID:17489054|PMID:17576681|PMID:18240302|PMID:18419343|PMID:18489434|PMID:18507017|PMID:18541930|PMID:18942754|PMID:19103559|PMID:19184348|PMID:19184350|PMID:19185283|PMID:19349988|PMID:19397946|PMID:19467619|PMID:19641059|PMID:19713276|PMID:19748964|PMID:20032092|PMID:20047977|PMID:20230816|PMID:20332463|PMID:20713205|PMID:20959815|PMID:21274544|PMID:21335489|PMID:21460759|PMID:21548950|PMID:21565239|PMID:21745302|PMID:21830272|PMID:21914217|PMID:21951874|PMID:21983784|PMID:21994160|PMID:22275320|PMID:22319155|PMID:22344438|PMID:22440928|PMID:22543157|PMID:22684479|PMID:22859352|PMID:22939045|PMID:22942351|PMID:23102769|PMID:23128233|PMID:23173613|PMID:23615072|PMID:23633568|PMID:23709157|PMID:23806086|PMID:24033266|PMID:24047397|PMID:24088041|PMID:24345423|PMID:24391456|PMID:24583628|PMID:24586700|PMID:24597572|PMID:24803813|PMID:25093298|PMID:25209167|PMID:25365249|PMID:25416713|PMID:25687216|PMID:25741868|PMID:26042516|PMID:26070941|PMID:26164256|PMID:26167078|PMID:26316104|PMID:26500656|PMID:26774591|PMID:27306066|PMID:27373512|PMID:28008999|PMID:28422189|PMID:28492532|PMID:28658209|PMID:28750667|PMID:28814775|PMID:29178652|PMID:29248579|PMID:29321258|PMID:29446656|PMID:29795570|PMID:29867916|PMID:30159790|PMID:30166421|PMID:30167848|PMID:30552907|PMID:30553995|PMID:31681265|PMID:32463623|PMID:32597225|PMID:32716958|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:12626759|PMID:16199547|PMID:16278823|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:38348033|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:11875755|PMID:12202985|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18507017|PMID:20230816|PMID:21983784|PMID:24033266|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28492532|PMID:29503906|PMID:30159790|PMID:32463623|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:11385576|PMID:11875755|PMID:12202985|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16199547|PMID:16485124|PMID:17576681|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25416713|PMID:25741868|PMID:26070941|PMID:26774591|PMID:28361096|PMID:28492532|PMID:29503906|PMID:30159790|PMID:31760574|PMID:32463623|PMID:9536098
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNPs:CDs:p.P268S, R702W, A725G (human)	PMID:18419343|REF_RGD_ID:5131510
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:2987	familial Mediterranean fever	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:p.G908R,p.R702W,p.L1007fsinsC(human)	PMID:22244368|REF_RGD_ID:13204709
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs1077861) (human)	PMID:21943069|REF_RGD_ID:5508720
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:3393	coronary artery disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.G908R, 3020_3021insC (human)	PMID:21565239|REF_RGD_ID:5508725
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1306368	D	RGD:9068941	20200609	RGD			PMID:24842554|REF_RGD_ID:13204729
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:4029	gastritis		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:417	autoimmune disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	PMID:20646002|REF_RGD_ID:5508739
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11875755|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal cavity mucosa	PMID:23858718|REF_RGD_ID:8547523
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:2104C>T,2722G>C (human)	PMID:12704363|REF_RGD_ID:5131484
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:4989	pancreatitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein, mRNA:decreased expression:pancreas, blood cells	PMID:20442679|REF_RGD_ID:5131438
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314945	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:5295	intestinal disease		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation: :p.G908R (human)	PMID:20646002|REF_RGD_ID:5508739
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1314945	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19479836|PMID:25741868|PMID:28492532|PMID:33394828
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:6543	acne		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11875755|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:848	arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:27106250
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:1314945	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20452301
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20580721|REF_RGD_ID:8547529
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:874	bacterial pneumonia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:19360122|REF_RGD_ID:5131449
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:7240710	20180523	OMIM			
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Enteritis, Granulomatous | ClinVar Annotator: match by term: Inflammatory bowel disease 1 | ClinVar Annotator: match by term: Regional enteritis	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:12630966|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:16199547|PMID:16485124|PMID:18240302|PMID:18489434|PMID:18507017|PMID:18541930|PMID:19713276|PMID:20039400|PMID:20230816|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22377804|PMID:22684479|PMID:22926499|PMID:24033266|PMID:25093298|PMID:25416713|PMID:25741868|PMID:26768519|PMID:27419275|PMID:28361096|PMID:28492532|PMID:29503906|PMID:29697845|PMID:30159790|PMID:31760574|PMID:32463623|PMID:32647028|PMID:33394828
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	no_association	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:missense mutations, frameshift mutation: :p.R702W, p.G908R, 3020_3021insC (human)	PMID:21155887|REF_RGD_ID:5508730
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation, missense mutations	PMID:11385576|REF_RGD_ID:1600778
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa:	PMID:22997830|REF_RGD_ID:13204727
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:25443778|REF_RGD_ID:9831197
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000156	Metaplasia		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Helicobacter Infections;DNA:SNP: :c.802C>T (human)	PMID:20230816|REF_RGD_ID:5508759
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000363	Hematuria		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9000972	Fever		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fever	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20493961|REF_RGD_ID:5131444
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002019	Granuloma		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20679225|REF_RGD_ID:5508736
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1314946	D	RGD:9068941	20200609	RGD			PMID:20131263|PMID:21424514|REF_RGD_ID:5508728|REF_RGD_ID:8552884
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002517	Early-Onset Sarcoidosis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoidosis, early-onset	PMID:11385576|PMID:11875755|PMID:12626759|PMID:15024686|PMID:15459013|PMID:15770725|PMID:15812565|PMID:16278823|PMID:16485124|PMID:17968944|PMID:18056399|PMID:18718560|PMID:19116920|PMID:19479836|PMID:19479837|PMID:20039400|PMID:20565245|PMID:21596301|PMID:22859352|PMID:24713464|PMID:25093298|PMID:25136265|PMID:25416713|PMID:25619344|PMID:25741868|PMID:25829188|PMID:26500656|PMID:27339507|PMID:28130683|PMID:28492532|PMID:28639104|PMID:30693132|PMID:30806112|PMID:32647028|PMID:33042144|PMID:35314268|PMID:38348033|PMID:39372397
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002720	Splenomegaly	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Common Variable Immunodeficiency;DNA:missense mutation:cds:p.R702W (rs2066844) (human)	PMID:20646002|REF_RGD_ID:5508739
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:insertion:Cds: 3020_3021insC (human)	PMID:20223031|REF_RGD_ID:5131515
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9003000	Asthenia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthenia	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine	PMID:20107953|REF_RGD_ID:5131440
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis		ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intestine mucosa (rat)	PMID:24059417|REF_RGD_ID:8547531
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004484	Sepsis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:missense mutations, frameshift mutation:cds:p.R702W, p.G908R, 3020_3021insC (human)	PMID:21460759|REF_RGD_ID:5508752
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:7240710	20210127	OMIM			
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004527	YAO SYNDROME		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Susceptibility to Yao syndrome | ClinVar Annotator: match by term: Yao syndrome	PMID:11385576|PMID:11875755|PMID:12512038|PMID:12626759|PMID:15024686|PMID:15044951|PMID:15198989|PMID:15459013|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25416713|PMID:25741868|PMID:28361096|PMID:28492532|PMID:31760574
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1306368	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22575870|REF_RGD_ID:8547530
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9004945	Ocular Toxoplasmosis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:g.*397A>C (rs3135499)(human)	PMID:23100559|REF_RGD_ID:8547527
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9005036	Bacteremia	severity	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		associated with Staphylococcal Infections;	PMID:24086711|REF_RGD_ID:13204726
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9007736	Vertigo		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Psoriatic arthritis, susceptibility to	PMID:11385576|PMID:11875755|PMID:12626759|PMID:15459013|PMID:25416713|PMID:25741868|PMID:28361096|PMID:28492532|PMID:31760574
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:5'UTR/exon, exon:rs5743266, rs2066842 (human)	PMID:16008671|REF_RGD_ID:5131477
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9008385	Vomiting		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte	PMID:21886831|REF_RGD_ID:5508746
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1314945	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.G908R  (rs2066845)(human)	PMID:16642031|REF_RGD_ID:13204710
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095632	NOD2	nucleotide binding oligomerization domain containing 2	gene	DOID:9970	obesity		ISO	RGD:1314945	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11385576|PMID:11875755|PMID:12512038|PMID:15024686|PMID:15198989|PMID:15571588|PMID:15770725|PMID:15967635|PMID:18240302|PMID:18489434|PMID:18541930|PMID:19713276|PMID:20959815|PMID:21274544|PMID:21548950|PMID:21830272|PMID:22684479|PMID:24033266|PMID:25741868|PMID:28492532
12095654	PPP1R8	protein phosphatase 1 regulatory subunit 8	gene	DOID:1324	lung cancer		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095654	PPP1R8	protein phosphatase 1 regulatory subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095654	PPP1R8	protein phosphatase 1 regulatory subunit 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12095654	PPP1R8	protein phosphatase 1 regulatory subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316782	D	RGD:9068941	20210122	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:0111955	immunodeficiency 27A		ISO	RGD:1316782	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 27A	PMID:28492532
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:0111995	immunodeficiency 28		ISO	RGD:1316782	D	RGD:7240710	20210114	OMIM			
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:0111995	immunodeficiency 28		ISO	RGD:1316782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 28 | ClinVar Annotator: match by term: Immunodeficiency 28	PMID:16690980|PMID:16885196|PMID:23161749|PMID:25135595|PMID:25741868|PMID:27522156|PMID:28492532|PMID:31222290
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:13272	Klebsiella pneumonia	disease_progression	ISO	RGD:1316782	D	RGD:9068941	20251004	RGD		mRNA:increased expression:monocyte	PMID:38898888|REF_RGD_ID:628360927
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:1682	congenital heart disease	susceptibility	ISO	RGD:1316782	D	RGD:9068941	20251004	RGD		DNA:SNP: :rs2834213	PMID:33260695|REF_RGD_ID:628360925
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:1316782	D	RGD:9068941	20251004	RGD		DNA:SNPs: :	PMID:25815589|REF_RGD_ID:628360906
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:2957	pulmonary tuberculosis	onset	ISO	RGD:1316782	D	RGD:9068941	20251002	RGD		DNA:SNP:intron:rs2834213	PMID:22057826|REF_RGD_ID:628360903
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316782	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1316782	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1316782	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9004697	Interferon Gamma, Receptor 1, Deficiency		ISO	RGD:1316782	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Interferon gamma receptor deficiency	PMID:16690980|PMID:16885196|PMID:25741868|PMID:28492532
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9408	acute myocardial infarction	susceptibility	ISO	RGD:1316782	D	RGD:9068941	20251002	RGD		DNA:SNP:intron:rs9978223	PMID:29434065|REF_RGD_ID:628360902
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1316782	D	RGD:9068941	20251004	RGD		DNA:SNP: :rs2012075	PMID:25994869|REF_RGD_ID:628360924
12095669	IFNGR2	interferon gamma receptor 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1316783	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12095686	HELQ	helicase, POLQ like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:10534	stomach cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095686	HELQ	helicase, POLQ like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095686	HELQ	helicase, POLQ like	gene	DOID:1115	sarcoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:1324	lung cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095686	HELQ	helicase, POLQ like	gene	DOID:1909	melanoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:2394	ovarian cancer		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12095686	HELQ	helicase, POLQ like	gene	DOID:3275	thymoma		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:4362	cervical cancer		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095686	HELQ	helicase, POLQ like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095686	HELQ	helicase, POLQ like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605893	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12095686	HELQ	helicase, POLQ like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095686	HELQ	helicase, POLQ like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095718	VWA5B2	von Willebrand factor A domain containing 5B2	gene	DOID:10534	stomach cancer		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095718	VWA5B2	von Willebrand factor A domain containing 5B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095718	VWA5B2	von Willebrand factor A domain containing 5B2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12095718	VWA5B2	von Willebrand factor A domain containing 5B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095718	VWA5B2	von Willebrand factor A domain containing 5B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095757	GREM2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:7240710	20190315	OMIM			
12095757	GREM2	gremlin 2, DAN family BMP antagonist	gene	DOID:9008387	Selective Tooth Agenesis 9		ISO	RGD:1350364	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 9 | ClinVar Annotator: match by term: Tooth agenesis, selective, 9	PMID:25741868
12095771	AJM1	apical junction component 1 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:3302853	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12095786	SNAI3	snail family transcriptional repressor 3	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1320115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:1909	melanoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:3275	thymoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314619	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314619	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095793	FKBP11	FKBP prolyl isomerase 11	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1314619	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12095803	SHISA3	shisa family member 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2292184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12095803	SHISA3	shisa family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1603562	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1603562	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095808	ITPRIPL1	ITPRIP like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095823	TMEM138	transmembrane protein 138	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604817	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:22282472|PMID:28102635|PMID:28492532
12095823	TMEM138	transmembrane protein 138	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	
12095823	TMEM138	transmembrane protein 138	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1604817	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Meckel syndrome	
12095823	TMEM138	transmembrane protein 138	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095823	TMEM138	transmembrane protein 138	gene	DOID:0110985	Joubert Syndrome 16		ISO	RGD:1604817	D	RGD:7240710	20191002	OMIM			
12095823	TMEM138	transmembrane protein 138	gene	DOID:0110985	Joubert Syndrome 16		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 16 | ClinVar Annotator: match by term: Joubert syndrome 16 | ClinVar Annotator: match by term: TMEM138-related condition	PMID:16199547|PMID:17576681|PMID:22282472|PMID:25741868|PMID:26092869|PMID:26489029|PMID:27081510|PMID:27434533|PMID:28102635|PMID:28289185|PMID:28492532|PMID:32404165|PMID:34354814|PMID:9536098
12095823	TMEM138	transmembrane protein 138	gene	DOID:1115	sarcoma		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095823	TMEM138	transmembrane protein 138	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:22282472|PMID:25741868|PMID:28492532
12095823	TMEM138	transmembrane protein 138	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12095823	TMEM138	transmembrane protein 138	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095823	TMEM138	transmembrane protein 138	gene	DOID:630	genetic disease		ISO	RGD:1604817	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095840	FUNDC2	FUN14 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095852	C10H2orf15	chromosome 10 C2orf15 homolog	gene	DOID:3652	Leigh disease		ISO	RGD:405281105	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
12095852	C10H2orf15	chromosome 10 C2orf15 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095852	C10H2orf15	chromosome 10 C2orf15 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321082	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095852	C10H2orf15	chromosome 10 C2orf15 homolog	gene	DOID:9008121	Lipoyltransferase 1 Deficiency		ISO	RGD:1321082	D	RGD:7240710	20200527	OMIM			
12095875	LOC100686711	CMRF35-like molecule 7	gene	DOID:1909	melanoma		ISO	RGD:1604243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:3275	thymoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316212	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12095893	JAKMIP3	Janus kinase and microtubule interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316212	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:1115	sarcoma		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:1324	lung cancer		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:3275	thymoma		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1602649	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12095915	FAHD2A	fumarylacetoacetate hydrolase domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12095931	OR51E2	olfactory receptor family 51 subfamily E member 2	gene	DOID:1115	sarcoma		ISO	RGD:736827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12095931	OR51E2	olfactory receptor family 51 subfamily E member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:628858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12095931	OR51E2	olfactory receptor family 51 subfamily E member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:628858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0060272	pontocerebellar hypoplasia type 3		ISO	RGD:69449	D	RGD:7240710	20180130	OMIM			
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0060272	pontocerebellar hypoplasia type 3		ISO	RGD:69449	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PCLO-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 3 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 3	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:10629	microphthalmia		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:10907	microcephaly		ISO	RGD:69449	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:11383	cryptorchidism		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:11836	clubfoot		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:1324	lung cancer		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:13620	patent foramen ovale		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:1459	hypothyroidism		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:1909	melanoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:3275	thymoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:4362	cervical cancer		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:5041	esophageal cancer		ISO	RGD:69449	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:5327	retinal detachment		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:630	genetic disease		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9004327	Colpocephaly		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9008811	Tachypnea		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:28492532|PMID:38177409
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096034	PCLO	piccolo presynaptic cytomatrix protein	gene	DOID:9970	obesity		ISO	RGD:69449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:38177409
12096057	ZNF169	zinc finger protein 169	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096057	ZNF169	zinc finger protein 169	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096057	ZNF169	zinc finger protein 169	gene	DOID:9970	obesity		ISO	RGD:1312178	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
12096079	KLHL8	kelch like family member 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096079	KLHL8	kelch like family member 8	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:1312275	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	
12096079	KLHL8	kelch like family member 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12096079	KLHL8	kelch like family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096079	KLHL8	kelch like family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096079	KLHL8	kelch like family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096100	TMEM171	transmembrane protein 171	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096100	TMEM171	transmembrane protein 171	gene	DOID:10534	stomach cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096100	TMEM171	transmembrane protein 171	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096100	TMEM171	transmembrane protein 171	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096100	TMEM171	transmembrane protein 171	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1352652	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:25741868
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:1324	lung cancer		ISO	RGD:1352652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:1909	melanoma		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:1924	hypogonadism		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:28492532|PMID:31042289
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:3275	thymoma		ISO	RGD:1352652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1352652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1352652	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure | ClinVar Annotator: match by term: Premature ovarian insufficiency | ClinVar Annotator: match by term: Primary Ovarian Insufficiency	PMID:25741868|PMID:28492532|PMID:31042289
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1352652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:28492532|PMID:31042289
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:9006101	Primary Ovarian Failure		ISO	RGD:1352652	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Primary ovarian failure	PMID:28492532|PMID:31042289
12096112	IGSF10	immunoglobulin superfamily member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352652	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:1115	sarcoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:1588	thrombocytopenia		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:1909	melanoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:255	hemangioma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:630	genetic disease		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:7240710	20190315	OMIM			
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9007873	Primary Intraosseous Vascular Malformation		ISO	RGD:1314023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELMO2-related condition | ClinVar Annotator: match by term: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS | ClinVar Annotator: match by term: Vascular malformation, primary intraosseous	PMID:25741868|PMID:28492532
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9008421	Epistaxis		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096125	ELMO2	engulfment and cell motility 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12096155	RIOK1	RIO kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12096155	RIOK1	RIO kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096155	RIOK1	RIO kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1314499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096155	RIOK1	RIO kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12096155	RIOK1	RIO kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096155	RIOK1	RIO kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096155	RIOK1	RIO kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0060249	scoliosis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0080006	bone development disease		ISO	RGD:1601866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0081072	craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebro-facio-thoracic dysplasia | ClinVar Annotator: match by term: Cerebrofaciothoracic dysplasia	PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0081124	craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1		ISO	RGD:1601866	D	RGD:7240710	20220810	OMIM			
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1601866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532571
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:12849	autistic disorder		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:14766	renal agenesis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:3275	thymoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:540	strabismus		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:557	kidney disease		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:628	combined T cell and B cell immunodeficiency		ISO	RGD:1601866	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital combined immunodeficiency	PMID:20018682|PMID:23320496|PMID:24033266|PMID:24194475|PMID:24424126|PMID:25627829
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:630	genetic disease		ISO	RGD:1601866	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:674	cleft palate		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:1601866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:20018682|PMID:23320496|PMID:24194475|PMID:24424126|PMID:25741868|PMID:28492532|PMID:29682451
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30755392|PMID:31102500|PMID:32214227
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1601866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1601866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20018682
12096176	TMCO1	transmembrane and coiled-coil domains 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:1115	sarcoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3275	thymoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322175	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096190	HERC4	HECT and RLD domain containing E3 ubiquitin protein ligase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:1324	lung cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:2394	ovarian cancer		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:7240710	20210825	OMIM			
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:9001117	Aicardi-Goutieres Syndrome 8		ISO	RGD:1354131	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 | ClinVar Annotator: match by term: LSM11-related condition	
12096247	LSM11	LSM11, U7 small nuclear RNA associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096255	RNF216	ring finger protein 216	gene	DOID:0081284	rosette-forming glioneuronal tumor		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor	PMID:26822237
12096255	RNF216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:7240710	20180130	OMIM			
12096255	RNF216	ring finger protein 216	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1604006	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia and hypogonadotropic hypogonadism | ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome | ClinVar Annotator: match by term: GORDON HOLMES SYNDROME | ClinVar Annotator: match by term: Gordon Holmes syndrome | ClinVar Annotator: match by term: RNF216-related condition	PMID:23656588|PMID:25741868|PMID:28492532
12096255	RNF216	ring finger protein 216	gene	DOID:10534	stomach cancer		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096255	RNF216	ring finger protein 216	gene	DOID:10579	leukodystrophy		ISO	RGD:1604006	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
12096255	RNF216	ring finger protein 216	gene	DOID:1115	sarcoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096255	RNF216	ring finger protein 216	gene	DOID:1909	melanoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096255	RNF216	ring finger protein 216	gene	DOID:3070	high grade glioma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12096255	RNF216	ring finger protein 216	gene	DOID:3275	thymoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096255	RNF216	ring finger protein 216	gene	DOID:5041	esophageal cancer		ISO	RGD:1604006	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096255	RNF216	ring finger protein 216	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096255	RNF216	ring finger protein 216	gene	DOID:630	genetic disease		ISO	RGD:1604006	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12096255	RNF216	ring finger protein 216	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096255	RNF216	ring finger protein 216	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:0060559	lethal congenital contracture syndrome 1		ISO	RGD:1316460	D	RGD:7240710	20180130	OMIM			
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:0060559	lethal congenital contracture syndrome 1		ISO	RGD:1316460	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Lethal congenital contractural syndrome Finnish type | ClinVar Annotator: match by term: Lethal congenital contracture syndrome 1 | ClinVar Annotator: match by term: Multiple contracture syndrome, Finnish type	PMID:16892327|PMID:18204449|PMID:24243016|PMID:25741868|PMID:27684565|PMID:28492532|PMID:7770128
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:10534	stomach cancer		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:1115	sarcoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:4362	cervical cancer		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:5041	esophageal cancer		ISO	RGD:1316460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:630	genetic disease		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease		ISO	RGD:1316460	D	RGD:7240710	20180130	OMIM			
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:9003573	Congenital Arthrogryposis with Anterior Horn Cell Disease		ISO	RGD:1316460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE | ClinVar Annotator: match by term: GLE1-related condition	PMID:25741868|PMID:28492532
12096279	GLE1	GLE1 RNA export mediator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096299	DMRTA1	DMRT like family A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096304	FOXO3	forkhead box O3	gene	DOID:0050902	medulloblastoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA	
12096304	FOXO3	forkhead box O3	gene	DOID:0080147	lymphoblastic lymphoma		ISO	RGD:1553155	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
12096304	FOXO3	forkhead box O3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12096304	FOXO3	forkhead box O3	gene	DOID:10283	prostate cancer		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in tumor vs adjacent normal tissue (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
12096304	FOXO3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:23585551|REF_RGD_ID:7327146
12096304	FOXO3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphoblast,nucleus:	PMID:23153928|REF_RGD_ID:10402185
12096304	FOXO3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:altered expression:cortical neuron,nucleus:	PMID:23661003|REF_RGD_ID:10402187
12096304	FOXO3	forkhead box O3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1553155	D	RGD:9068941	20211126	RGD		protein:increased expression:hippocampal neuron (mouse)	PMID:28157684|REF_RGD_ID:11061905
12096304	FOXO3	forkhead box O3	gene	DOID:1824	status epilepticus		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus,mitochondrion:	PMID:23278239|REF_RGD_ID:10402198
12096304	FOXO3	forkhead box O3	gene	DOID:255	hemangioma		ISO	RGD:1553155	D	RGD:9068941	20221027	RGD			PMID:17254969|REF_RGD_ID:155630604
12096304	FOXO3	forkhead box O3	gene	DOID:2870	endometrial adenocarcinoma	severity	ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:decreased expression:endometrium (human)	PMID:26045339|REF_RGD_ID:11530998
12096304	FOXO3	forkhead box O3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23099361
12096304	FOXO3	forkhead box O3	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus,mitochondrion:	PMID:23278239|REF_RGD_ID:10402198
12096304	FOXO3	forkhead box O3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
12096304	FOXO3	forkhead box O3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19380174
12096304	FOXO3	forkhead box O3	gene	DOID:5082	liver cirrhosis		ISO	RGD:1319403	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:33372984
12096304	FOXO3	forkhead box O3	gene	DOID:5117	dermoid cyst of ovary		ISO	RGD:1553155	D	RGD:9068941	20220825	MouseDO		OMIM:166950	
12096304	FOXO3	forkhead box O3	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:1319403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS CARCINOMA	
12096304	FOXO3	forkhead box O3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096304	FOXO3	forkhead box O3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, polymorphonuclear cell,synovium:	PMID:19435720|REF_RGD_ID:10402186
12096304	FOXO3	forkhead box O3	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord,neuron, astrocyte:	PMID:22930444|REF_RGD_ID:10402202
12096304	FOXO3	forkhead box O3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27742544
12096304	FOXO3	forkhead box O3	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex,nucleus:	PMID:24229603|REF_RGD_ID:10402203
12096304	FOXO3	forkhead box O3	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:decreased phosphorylation:heart:	PMID:18192848|REF_RGD_ID:2293330
12096304	FOXO3	forkhead box O3	gene	DOID:9004994	Embryo Loss		ISO	RGD:1319403	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
12096304	FOXO3	forkhead box O3	gene	DOID:9005396	Intimal Hyperplasia		ISO	RGD:1319403	D	RGD:9068941	20200609	RGD			PMID:15662024|REF_RGD_ID:10402197
12096304	FOXO3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:12683947|REF_RGD_ID:10402199
12096304	FOXO3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	PMID:17082237|REF_RGD_ID:10402196
12096304	FOXO3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23090186|PMID:23792339
12096304	FOXO3	forkhead box O3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1553155	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation, increased expression:glomerulus, cytoplasm:	PMID:17082237|REF_RGD_ID:10402196
12096304	FOXO3	forkhead box O3	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD			PMID:15662024|REF_RGD_ID:10402197
12096304	FOXO3	forkhead box O3	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1319403	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35038060
12096304	FOXO3	forkhead box O3	gene	DOID:9970	obesity		ISO	RGD:1309196	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium:	PMID:16467659|REF_RGD_ID:10402201
12096304	FOXO3	forkhead box O3	gene	DOID:9970	obesity		ISO	RGD:1319403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23954404
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:3275	thymoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096311	TRMT9B	tRNA methyltransferase 9B (putative)	gene	DOID:9256	colorectal cancer		ISO	RGD:1602875	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelodysplasia	PMID:28492532
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11980663
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24141364
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	disease_progression	ISO	RGD:1345718	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:22699455|REF_RGD_ID:11075072
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0081155	common variable immunodeficiency 13		ISO	RGD:1345718	D	RGD:7240710	20190315	OMIM			
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:0081155	common variable immunodeficiency 13		ISO	RGD:1345718	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IKZF1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY, COMMON VARIABLE, 13 | ClinVar Annotator: match by term: Immunodeficiency, common variable, 13	PMID:10463586|PMID:19129520|PMID:22699455|PMID:22868967|PMID:25741868|PMID:26202931|PMID:26981933|PMID:27067989|PMID:27815723|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:31057532|PMID:34329649|PMID:35566429|PMID:7585946|PMID:8986714
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:12450	pancytopenia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:28492532
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure red-cell aplasia	PMID:28492532|PMID:29681510|PMID:34162668
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:13774	Addison's disease		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary adrenal insufficiency	PMID:25741868|PMID:28492532|PMID:31057532|PMID:32531373|PMID:33122583
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:31057532|PMID:35101336
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:1826	epilepsy		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:3307	teratoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:28492532
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1345718	D	RGD:9068941	20220204	RGD		mRNA:increased expression:lung (human)	PMID:33738286|REF_RGD_ID:151347632
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		protein:increased expression:lung (human)	PMID:32787735|REF_RGD_ID:150540324
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:4409	folliculitis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Folliculitis	PMID:28492532
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:28492532
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1345718	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28096536|PMID:28492532|PMID:29889099|PMID:31069201|PMID:31089937|PMID:32319000|PMID:32499645|PMID:32531373|PMID:32888943|PMID:36964972
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		protein:increased expression:liver (human)	PMID:25301737|REF_RGD_ID:150540326
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:7177	anal canal squamous cell carcinoma		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anal canal squamous cell carcinoma	PMID:25741868|PMID:28492532|PMID:32499645|PMID:32531373
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1345718	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:21548011|PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic myeloid leukemia	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:32531373|PMID:33122583|PMID:35333544|PMID:38129715|PMID:38320737
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		associated with colorectal cancer;DNA:polymorphisms:	PMID:31320627|REF_RGD_ID:150540328
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345718	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532|PMID:31057532|PMID:32531373|PMID:33122583
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9004484	Sepsis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:35333544|PMID:38129715|PMID:38320737
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9009142	Diamond-Blackfan Anemia-Like		ISO	RGD:1345718	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia-like	PMID:28492532|PMID:29681510|PMID:34162668
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1345718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838193
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		DNA:hypermethylation:promoter (human)	PMID:29780264|PMID:31010820|REF_RGD_ID:150540322|REF_RGD_ID:150540329
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		DNA:hypermethylation: (human)	PMID:25928810|PMID:29796114|PMID:33478584|REF_RGD_ID:150540320|REF_RGD_ID:150540323|REF_RGD_ID:150540327
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		DNA:hypermethylation:promoter (human)	PMID:21737484|REF_RGD_ID:150540325
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1345718	D	RGD:9068941	20220204	RGD		DNA:hypermethylation: (human)	PMID:27726312|PMID:29992492|PMID:31909823|PMID:32958500|REF_RGD_ID:150540317|REF_RGD_ID:150540319|REF_RGD_ID:150540321|REF_RGD_ID:151347633
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		DNA:polymorphisms: (human)	PMID:31320627|REF_RGD_ID:150540328
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1345718	D	RGD:9068941	20211231	RGD		DNA:SNP:3' utr: (rs6964823) (human)	PMID:33723131|REF_RGD_ID:150540318
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9471	meningitis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868|PMID:26981933|PMID:27939403|PMID:28492532|PMID:28927821|PMID:30940614|PMID:31057532|PMID:31089937|PMID:35333544|PMID:38129715|PMID:38320737
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1345718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
12096335	IKZF1	IKAROS family zinc finger 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345718	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Acute lymphocytic leukemia | ClinVar Annotator: match by term: Acute lymphoid leukemia | ClinVar Annotator: match by term: Leukemia, acute lymphocytic, susceptibility to, 2	PMID:25741868|PMID:27993330|PMID:28492532
12096365	AMT	aminomethyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096365	AMT	aminomethyltransferase	gene	DOID:0061001	glycine encephalopathy 2		ISO	RGD:1343884	D	RGD:7240710	20230614	OMIM			
12096365	AMT	aminomethyltransferase	gene	DOID:0061001	glycine encephalopathy 2		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Glycine encephalopathy 2	PMID:16450403|PMID:23352163|PMID:25231368|PMID:25741868|PMID:26179960|PMID:27362913|PMID:28244183|PMID:28492532|PMID:8005589|PMID:9621520
12096365	AMT	aminomethyltransferase	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:10873393|PMID:12948742|PMID:22171071|PMID:25741868|PMID:26179960|PMID:26467025|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28492532|PMID:36471344
12096365	AMT	aminomethyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096365	AMT	aminomethyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096365	AMT	aminomethyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1343884	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096365	AMT	aminomethyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096365	AMT	aminomethyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11139253|PMID:12948742|PMID:25741868|PMID:27362913|PMID:27620832|PMID:28492532|PMID:30350008|PMID:33528079|PMID:34440436
12096365	AMT	aminomethyltransferase	gene	DOID:9002802	Acidoses		ISO	RGD:1359408	D	RGD:9068941	20200609	RGD			PMID:3877504|REF_RGD_ID:1599107
12096365	AMT	aminomethyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096365	AMT	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1343884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCINE ENCEPHALOPATHY | ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia | ClinVar Annotator: match by term: glycine encephalopathy	PMID:10451514|PMID:10873393|PMID:11139253|PMID:11286506|PMID:12948742|PMID:15272469|PMID:16051266|PMID:16199547|PMID:16450403|PMID:17576681|PMID:19299230|PMID:20301531|PMID:21520333|PMID:22171071|PMID:22261077|PMID:22532538|PMID:23352163|PMID:24033266|PMID:25231368|PMID:25640679|PMID:25741868|PMID:26179960|PMID:26371980|PMID:26467025|PMID:27164344|PMID:27362913|PMID:27620832|PMID:27884173|PMID:28244183|PMID:28462797|PMID:28492532|PMID:29300369|PMID:29789446|PMID:30105116|PMID:30350008|PMID:31319225|PMID:31395954|PMID:31589614|PMID:33101984|PMID:33528079|PMID:33726816|PMID:33791923|PMID:34440436|PMID:34568804|PMID:34630504|PMID:35357708|PMID:35616651|PMID:35646099|PMID:36471344|PMID:36964972|PMID:38259611|PMID:38589924|PMID:39206282|PMID:6179960|PMID:8005589|PMID:9536098|PMID:9600239
12096365	AMT	aminomethyltransferase	gene	DOID:9268	glycine encephalopathy	susceptibility	ISO	RGD:1343884	D	RGD:9068941	20200609	RGD			PMID:8005589|REF_RGD_ID:1599106
12096383	ZNF335	zinc finger protein 335	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096383	ZNF335	zinc finger protein 335	gene	DOID:0060249	scoliosis		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:0070294	primary autosomal recessive microcephaly 10		ISO	RGD:732123	D	RGD:7240710	20180130	OMIM			
12096383	ZNF335	zinc finger protein 335	gene	DOID:0070294	primary autosomal recessive microcephaly 10		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 10, primary, autosomal recessive | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 10 | ClinVar Annotator: match by term: ZNF335-related condition	PMID:18414213|PMID:23178126|PMID:25741868|PMID:28492532|PMID:29652087
12096383	ZNF335	zinc finger protein 335	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:732123	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:0070297	primary microcephaly		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:10534	stomach cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096383	ZNF335	zinc finger protein 335	gene	DOID:1059	intellectual disability		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096383	ZNF335	zinc finger protein 335	gene	DOID:12849	autistic disorder		ISO	RGD:732123	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	
12096383	ZNF335	zinc finger protein 335	gene	DOID:12849	autistic disorder		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:1324	lung cancer		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096383	ZNF335	zinc finger protein 335	gene	DOID:1826	epilepsy		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:29652087
12096383	ZNF335	zinc finger protein 335	gene	DOID:1909	melanoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096383	ZNF335	zinc finger protein 335	gene	DOID:1969	cerebral palsy		ISO	RGD:732123	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12096383	ZNF335	zinc finger protein 335	gene	DOID:3275	thymoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096383	ZNF335	zinc finger protein 335	gene	DOID:480	movement disease		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:19131338|PMID:22495306|PMID:23178126|PMID:26795593|PMID:27540107
12096383	ZNF335	zinc finger protein 335	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12096383	ZNF335	zinc finger protein 335	gene	DOID:5041	esophageal cancer		ISO	RGD:732123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096383	ZNF335	zinc finger protein 335	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12096383	ZNF335	zinc finger protein 335	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096383	ZNF335	zinc finger protein 335	gene	DOID:630	genetic disease		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19131338|PMID:22495306|PMID:23178126|PMID:25741868|PMID:26795593|PMID:27540107|PMID:28492532
12096383	ZNF335	zinc finger protein 335	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29652087
12096383	ZNF335	zinc finger protein 335	gene	DOID:9003016	Aminoacylase 1 Deficiency		ISO	RGD:732123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aminoacylase 1 deficiency	
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1350827	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:1115	sarcoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1350827	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12096420	EFHD1	EF-hand domain family member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:0080690	RASopathy		ISO	RGD:1553608	D	RGD:9068941	20221006	MouseDO			
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:13938	amenorrhea		ISO	RGD:1322078	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322078	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096427	RREB1	ras responsive element binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050486	exanthem		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050581	brachydactyly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315433	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0060135	apraxia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0060249	scoliosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0060260	ptosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35861666|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10376	amblyopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: amblyopia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35833929|PMID:35861666|PMID:37586838|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25424714|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:32725632|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1059	intellectual disability		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual deficiency | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17576681|PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:29258554|PMID:30544257|PMID:32124548|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10754	otitis media		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10892	hypospadias		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:10907	microcephaly		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532|PMID:35330407|PMID:35599849|PMID:37586838
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:18414213|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:29258554|PMID:34971082
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11111	hydronephrosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1115	sarcoma		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11383	cryptorchidism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28449295|PMID:28492532|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11782	astigmatism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11830	myopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:11836	clubfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:12270	coloboma		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:27667800|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:12849	autistic disorder		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:28492532|PMID:32124548|PMID:32581362|PMID:35346031|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:13636	Fanconi anemia		ISO	RGD:1315433	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Eosinophilic esophagitis	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1459	hypothyroidism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:7240710	20180130	OMIM			
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG syndrome	PMID:1218237|PMID:15378538|PMID:15384099|PMID:15523620|PMID:15955779|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19863550|PMID:19920853|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:24088041|PMID:25125236|PMID:25326635|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25464108|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:26633545|PMID:27055092|PMID:27605097|PMID:27620904|PMID:27651234|PMID:27667800|PMID:27900361|PMID:28250421|PMID:28333917|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28708303|PMID:28976722|PMID:29100083|PMID:29258554|PMID:29517769|PMID:29565525|PMID:29758562|PMID:30182498|PMID:30202406|PMID:30544257|PMID:30642272|PMID:30919572|PMID:30945278|PMID:31144778|PMID:31191201|PMID:31337854|PMID:31501239|PMID:31602316|PMID:31607427|PMID:31690835|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:32725632|PMID:32766464|PMID:33057194|PMID:33144682|PMID:33461977|PMID:33955014|PMID:34012832|PMID:34547584|PMID:34971082|PMID:35330407|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35906703|PMID:35970914|PMID:35982159|PMID:36446582|PMID:36628575|PMID:37964495|PMID:38317675|PMID:39039281|PMID:39825153|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:14780	KBG syndrome		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANKRD11-related condition | ClinVar Annotator: match by term: KBG SYNDROME | ClinVar Annotator: match by term: KBG syndrome	PMID:1218237|PMID:15378538|PMID:15384099|PMID:15523620|PMID:15955779|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:19920853|PMID:21654729|PMID:21782149|PMID:23463723|PMID:23494856|PMID:24033266|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27055092|PMID:27605097|PMID:27620904|PMID:27667800|PMID:27900361|PMID:28250421|PMID:28333917|PMID:28422132|PMID:28449295|PMID:28492532|PMID:28529015|PMID:28976722|PMID:29258554|PMID:29565525|PMID:29758562|PMID:30544257|PMID:30642272|PMID:30919572|PMID:30945278|PMID:31191201|PMID:31337854|PMID:31501239|PMID:31607427|PMID:31690835|PMID:32005694|PMID:32124548|PMID:32222090|PMID:32238909|PMID:32581362|PMID:32725632|PMID:33057194|PMID:33144682|PMID:33955014|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35175682|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35906703|PMID:35970914|PMID:35982159|PMID:36446582|PMID:36628575|PMID:37226940|PMID:37471090|PMID:37586838|PMID:37658852|PMID:37964495|PMID:38259611|PMID:38317675|PMID:39039281|PMID:39135054|PMID:40127276|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1588	thrombocytopenia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1657	ventricular septal defect		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28449295|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1826	epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:27605097|PMID:28422132|PMID:28492532|PMID:29565525|PMID:32581362|PMID:34012832|PMID:35330407|PMID:36446582|PMID:38317675
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:1969	cerebral palsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28449295|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2030	anxiety disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2234	focal epilepsy		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:30544257
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2340	craniosynostosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2355	anemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2841	asthma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:3652	Leigh disease		ISO	RGD:1315433	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Leigh's disease	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:420	hypertrichosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:4428	dyslexia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:4702	mongolian spot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:535	sleep disorder		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder | ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:27605097
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:540	strabismus		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:557	kidney disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:24828792|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:630	genetic disease		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15378538|PMID:15955779|PMID:17576681|PMID:19344873|PMID:21782149|PMID:25125236|PMID:25356970|PMID:25413698|PMID:25424714|PMID:25473036|PMID:25652421|PMID:25741868|PMID:25954003|PMID:26467025|PMID:26615199|PMID:26633542|PMID:27605097|PMID:27618451|PMID:27667800|PMID:28422132|PMID:28490743|PMID:28492532|PMID:28600779|PMID:29258554|PMID:29565525|PMID:30544257|PMID:32124548|PMID:34012832|PMID:34440431|PMID:34971082|PMID:35330407|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:36413997|PMID:36446582|PMID:37471090|PMID:37658852|PMID:38259611|PMID:38317675|PMID:39039281|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:6364	migraine		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:674	cleft palate		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:83	cataract		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:17576681|PMID:28492532|PMID:35861666|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9000495	Tremor		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9001031	Retrognathia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28449295|PMID:28492532|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:28449295|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9001510	Funnel Chest		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9001722	Dysarthria		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1315433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17986521
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9002720	Splenomegaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9002914	Familial Sudden Death		ISO	RGD:1315433	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death in childhood	PMID:25413698|PMID:25741868|PMID:31191201
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9003163	Heart Block		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9003760	Myalgia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9004147	Anosmia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing impairment	PMID:25741868|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005077	Joint Instability		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: speech delay	PMID:25741868|PMID:28492532
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005560	Congenital Hip Dislocation		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hip dislocation	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548|PMID:32581362|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35861666|PMID:35970914|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9005616	Micrognathism		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1315433	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:32581362
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9007573	Flatfoot		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970|PMID:25741868
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9007661	Dwarfism		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:21782149|PMID:25125236|PMID:25413698|PMID:25473036|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28449295|PMID:28492532|PMID:29258554|PMID:35330407|PMID:35346031|PMID:35599849|PMID:35833929|PMID:35861666|PMID:35970914|PMID:37471090|PMID:37586838|PMID:37658852|PMID:38259611|PMID:9536098
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315433	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25533962|PMID:25652421|PMID:25741868|PMID:26633542|PMID:27605097|PMID:27667800|PMID:28492532|PMID:31607427|PMID:32124548|PMID:32581362|PMID:33955014|PMID:34440431|PMID:35346031|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611|PMID:39039281
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008327	Bone Cysts		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone cyst	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008582	Developmental Disease		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:32124548
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008681	Deafness		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness | ClinVar Annotator: match by term: deafness	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:26633542|PMID:28492532|PMID:39039281
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:1315433	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Otitis media with effusion	PMID:25413698|PMID:25741868|PMID:26633542|PMID:27605097|PMID:35346031|PMID:35833929|PMID:35970914|PMID:37471090|PMID:37658852|PMID:38259611
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1315433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:25741868|PMID:28492532|PMID:34971082
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9834	hyperopia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:34440431|PMID:35682590|PMID:35710456|PMID:35833929|PMID:35970914
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9970	obesity		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12096462	ANKRD11	ankyrin repeat domain containing 11	gene	DOID:9993	hypoglycemia		ISO	RGD:1315433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
12096499	TRIM50	tripartite motif containing 50	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096499	TRIM50	tripartite motif containing 50	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096499	TRIM50	tripartite motif containing 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:1115	sarcoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:1324	lung cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:4362	cervical cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314352	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096513	TRIM46	tripartite motif containing 46	gene	DOID:9256	colorectal cancer		ISO	RGD:1314352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:10534	stomach cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:1909	melanoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096541	DCAF11	DDB1 and CUL4 associated factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096570	CNTD1	cyclin N-terminal domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096570	CNTD1	cyclin N-terminal domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096570	CNTD1	cyclin N-terminal domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096570	CNTD1	cyclin N-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096582	C17H1orf56	chromosome 17 C1orf56 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096582	C17H1orf56	chromosome 17 C1orf56 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12096582	C17H1orf56	chromosome 17 C1orf56 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:1115	sarcoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:3275	thymoma		ISO	RGD:1604050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1604050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12096588	FAM168A	family with sequence similarity 168 member A	gene	DOID:9000918	Disease Progression		ISO	RGD:1604050	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:0050475	Weill-Marchesani syndrome		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani Syndrome, Autosomal Recessive | ClinVar Annotator: match by term: Weill-Marchesani syndrome	PMID:19836009|PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:0050475	Weill-Marchesani syndrome	susceptibility	ISO	RGD:1557306	D	RGD:9068941	20230413	RGD		DNA:SNP:cd: p.G661R (mouse)	PMID:34424262|REF_RGD_ID:243065144
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:0061273	Weill-Marchesani syndrome 1		ISO	RGD:1314467	D	RGD:7240710	20200101	OMIM			
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:0061273	Weill-Marchesani syndrome 1		ISO	RGD:1314467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMTS10-related condition | ClinVar Annotator: match by term: WEILL-MARCHESANI SYNDROME 1 | ClinVar Annotator: match by term: Weill-Marchesani syndrome 1	PMID:15368195|PMID:16199547|PMID:18567016|PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:10534	stomach cancer		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:1070	primary open angle glaucoma		IAGP		D	RGD:12801476	20250219	OMIA		Glaucoma, primary open angle, ADAMTS10-related	PMID:2925324|PMID:7325430|PMID:7720807|PMID:18435660|PMID:1428571|PMID:22524196|PMID:23518772|PMID:23422823|PMID:21379321|PMID:924743|PMID:7212410|PMID:27212875|PMID:26277300|PMID:25372548|PMID:26456751|PMID:27271467|PMID:27681326|PMID:29708978|PMID:36855027|PMID:2764346|PMID:3710885|PMID:2764345|PMID:37582787|PMID:38130820|PMID:31106969|PMID:38930749|PMID:39949047
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:1115	sarcoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:1324	lung cancer		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:1891	optic nerve disease		ISO	RGD:1557306	D	RGD:9068941	20230413	RGD		DNA:SNP:cd: p.G661R (mouse)	PMID:36216203|REF_RGD_ID:243065145
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:3070	high grade glioma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:3275	thymoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:4362	cervical cancer		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:630	genetic disease		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12096613	ADAMTS10	ADAM metallopeptidase with thrombospondin type 1 motif 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12096665	PHF6	PHD finger protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096665	PHF6	PHD finger protein 6	gene	DOID:0050681	Borjeson-Forssman-Lehmann syndrome		ISO	RGD:1354174	D	RGD:7240710	20180130	OMIM			
12096665	PHF6	PHD finger protein 6	gene	DOID:0050681	Borjeson-Forssman-Lehmann syndrome		ISO	RGD:1354174	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: Mental deficiency, epilepsy and endocrine disorders	PMID:12415272|PMID:13871358|PMID:15241480|PMID:15466013|PMID:15580208|PMID:15994862|PMID:18414213|PMID:23906836|PMID:24092917|PMID:24728327|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26648834|PMID:27633282|PMID:27698851|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30403997|PMID:30630810|PMID:33772537|PMID:34041787|PMID:35662002|PMID:36999477
12096665	PHF6	PHD finger protein 6	gene	DOID:0050681	Borjeson-Forssman-Lehmann syndrome		ISO	RGD:1354174	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BORJESON-FORSSMAN-LEHMANN SYNDROME | ClinVar Annotator: match by term: Borjeson-Forssman-Lehmann syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE | ClinVar Annotator: match by term: PHF6-related condition	PMID:12415272|PMID:12676923|PMID:15241480|PMID:15580208|PMID:15994862|PMID:18414213|PMID:19161141|PMID:24092917|PMID:25099957|PMID:25741868|PMID:25741869|PMID:26467025|PMID:26648834|PMID:27633282|PMID:27698851|PMID:28492532|PMID:28539120|PMID:28554332|PMID:30403997|PMID:30630810|PMID:33772537|PMID:34041787|PMID:35662002|PMID:36008597|PMID:36999477
12096665	PHF6	PHD finger protein 6	gene	DOID:0060058	lymphoma		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12096665	PHF6	PHD finger protein 6	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1354174	D	RGD:9068941	20220929	RGD		mRNA:increased expression:colorectal mucosa (human)	PMID:28675510|REF_RGD_ID:150524297
12096665	PHF6	PHD finger protein 6	gene	DOID:0110792	hereditary spastic paraplegia 4		ISO	RGD:1354174	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial spastic paraplegia autosomal dominant 2	PMID:12415272|PMID:15994862|PMID:25741868|PMID:25741869|PMID:28492532
12096665	PHF6	PHD finger protein 6	gene	DOID:1059	intellectual disability		ISO	RGD:1354174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:12415272|PMID:15241480|PMID:25741868|PMID:28492532|PMID:28554332
12096665	PHF6	PHD finger protein 6	gene	DOID:10892	hypospadias		ISO	RGD:1354174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:12415272|PMID:15241480|PMID:25741868|PMID:28492532|PMID:28554332
12096665	PHF6	PHD finger protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096665	PHF6	PHD finger protein 6	gene	DOID:11193	syndactyly		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:12415272|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:35662002
12096665	PHF6	PHD finger protein 6	gene	DOID:11383	cryptorchidism		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1354174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:12415272|PMID:15241480|PMID:25741868|PMID:28492532|PMID:28554332
12096665	PHF6	PHD finger protein 6	gene	DOID:1909	melanoma		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096665	PHF6	PHD finger protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096665	PHF6	PHD finger protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1354174	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096665	PHF6	PHD finger protein 6	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1354174	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228800
12096665	PHF6	PHD finger protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096665	PHF6	PHD finger protein 6	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:1354174	D	RGD:9068941	20221027	RGD		DNA:mutations: :	PMID:33779075|REF_RGD_ID:155630627
12096665	PHF6	PHD finger protein 6	gene	DOID:630	genetic disease		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12415272|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:30630810|PMID:35662002
12096665	PHF6	PHD finger protein 6	gene	DOID:674	cleft palate		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12096665	PHF6	PHD finger protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354174	D	RGD:9068941	20220929	RGD		mRNA:increased expression:liver (human)	PMID:31329335|REF_RGD_ID:155260288
12096665	PHF6	PHD finger protein 6	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1354174	D	RGD:9068941	20220929	RGD		mRNA:increased expression:liver (human)	PMID:30888215|REF_RGD_ID:155260308
12096665	PHF6	PHD finger protein 6	gene	DOID:769	neuroblastoma		ISO	RGD:1354174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
12096665	PHF6	PHD finger protein 6	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1354174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:9004108	Fused Kidney		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:12415272|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:35662002
12096665	PHF6	PHD finger protein 6	gene	DOID:9004507	Hirsutism		ISO	RGD:1354174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirsutism	
12096665	PHF6	PHD finger protein 6	gene	DOID:9005077	Joint Instability		ISO	RGD:1354174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:12415272|PMID:15241480|PMID:25741868|PMID:28492532|PMID:28554332
12096665	PHF6	PHD finger protein 6	gene	DOID:9005616	Micrognathism		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:12415272|PMID:24092917|PMID:25099957|PMID:25741868|PMID:26648834|PMID:28492532|PMID:28539120|PMID:35662002
12096665	PHF6	PHD finger protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12096665	PHF6	PHD finger protein 6	gene	DOID:9008582	Developmental Disease		ISO	RGD:1354174	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12096665	PHF6	PHD finger protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096665	PHF6	PHD finger protein 6	gene	DOID:9119	acute myeloid leukemia	severity	ISO	RGD:1354174	D	RGD:9068941	20220929	RGD		DNA:mutations:multiple (human)	PMID:31186809|REF_RGD_ID:155260286
12096665	PHF6	PHD finger protein 6	gene	DOID:9970	obesity		ISO	RGD:1354174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12096704	ADAM29	ADAM metallopeptidase domain 29	gene	DOID:3070	high grade glioma		ISO	RGD:1342886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12096704	ADAM29	ADAM metallopeptidase domain 29	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096803	LGALS2	galectin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096803	LGALS2	galectin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096803	LGALS2	galectin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096803	LGALS2	galectin 2	gene	DOID:5844	myocardial infarction		ISO	RGD:735390	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO	
12096803	LGALS2	galectin 2	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:735390	D	RGD:7240710	20190502	OMIM			
12096803	LGALS2	galectin 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:735390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18806098
12096803	LGALS2	galectin 2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:735390	D	RGD:9068941	20200609	RGD			PMID:17040205|REF_RGD_ID:1581853
12096803	LGALS2	galectin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096815	SETD3	SET domain containing 3, actin N3(tau)-histidine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096836	CISD3	CDGSH iron sulfur domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096836	CISD3	CDGSH iron sulfur domain 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1626692	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12096836	CISD3	CDGSH iron sulfur domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1626692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096865	EDN3	endothelin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096865	EDN3	endothelin 3	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:1344952	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:8696331
12096865	EDN3	endothelin 3	gene	DOID:0110954	Waardenburg syndrome type 4B		ISO	RGD:1344952	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 4B | ClinVar Annotator: match by term: WAARDENBURG SYNDROME, TYPE 4B, WITH HIRSCHSPRUNG DISEASE | ClinVar Annotator: match by term: Waardenburg syndrome type 4B	PMID:24033266|PMID:25741868|PMID:28492532|PMID:9359047|PMID:9587491
12096865	EDN3	endothelin 3	gene	DOID:0110954	Waardenburg syndrome type 4B	susceptibility	ISO	RGD:1344952	D	RGD:7240710	20260805	OMIM			
12096865	EDN3	endothelin 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12096865	EDN3	endothelin 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1344952	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EDN3-related condition | ClinVar Annotator: match by term: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 4	PMID:14633923|PMID:19556619|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8696331|PMID:9359047|PMID:9587491
12096865	EDN3	endothelin 3	gene	DOID:10487	Hirschsprung's disease	susceptibility	ISO	RGD:1344952	D	RGD:7240710	20260805	OMIM			
12096865	EDN3	endothelin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096865	EDN3	endothelin 3	gene	DOID:10763	hypertension		ISO	RGD:1344952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2059916
12096865	EDN3	endothelin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096865	EDN3	endothelin 3	gene	DOID:630	genetic disease		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25356970|PMID:25741868|PMID:28492532
12096865	EDN3	endothelin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12096865	EDN3	endothelin 3	gene	DOID:9000166	Intrinsic Sleep Disorders		ISO	RGD:1344952	D	RGD:9068941	20200609	RGD		congenital central hypoventilation syndrome (CCHS), OMIM:209880;DNA:insertion:exon	PMID:8696331|REF_RGD_ID:1601002
12096865	EDN3	endothelin 3	gene	DOID:9004866	Ataxia		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyssynergia	PMID:25356970|PMID:25741868
12096865	EDN3	endothelin 3	gene	DOID:9005027	Waardenburg Syndrome Type 4		ISO	RGD:1344952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17516928|PMID:8630502|PMID:8630503
12096865	EDN3	endothelin 3	gene	DOID:9006024	Hypotension		ISO	RGD:1344952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1309933|PMID:7982458
12096865	EDN3	endothelin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096865	EDN3	endothelin 3	gene	DOID:9007001	Bradycardia		ISO	RGD:1344952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1309933
12096865	EDN3	endothelin 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1344952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25356970|PMID:25741868
12096865	EDN3	endothelin 3	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1344952	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Waardenburg syndrome	PMID:25741868
12096879	KCNJ12	potassium inwardly rectifying channel subfamily J member 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733298	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
12096879	KCNJ12	potassium inwardly rectifying channel subfamily J member 12	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:733298	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
12096879	KCNJ12	potassium inwardly rectifying channel subfamily J member 12	gene	DOID:9000918	Disease Progression		ISO	RGD:733298	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34755307
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0050591	tooth agenesis		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:25741868
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHONDRODYSPLASIA, BLOMSTRAND TYPE | ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type	PMID:10523019|PMID:21404329|PMID:23771181|PMID:23910200|PMID:25741868|PMID:28492532|PMID:28643929|PMID:31986066|PMID:9649554
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0080020	Jansen's metaphyseal chondrodysplasia		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0080020	Jansen's metaphyseal chondrodysplasia		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia Murk Jansen type | ClinVar Annotator: match by term: Metaphyseal chondrodysplasia, Jansen type	PMID:10487664|PMID:22278430|PMID:23950054|PMID:25741868|PMID:28492532|PMID:7701349
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0110972	brachydactyly type E1		ISO	RGD:731312	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Brachydactyly type E1	PMID:25741868|PMID:28492532
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0111341	primary failure of tooth eruption		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0111341	primary failure of tooth eruption		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FAILURE OF TOOTH ERUPTION, PRIMARY | ClinVar Annotator: match by term: POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL | ClinVar Annotator: match by term: Primary failure of tooth eruption	PMID:22278430|PMID:24058597|PMID:25741868|PMID:28492532|PMID:31730001|PMID:7701349
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0111732	Eiken syndrome		ISO	RGD:731312	D	RGD:7240710	20190315	OMIM			
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:0111732	Eiken syndrome		ISO	RGD:731312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BONE MODELING DEFECT OF HANDS AND FEET | ClinVar Annotator: match by term: EIKEN SYNDROME | ClinVar Annotator: match by term: Eiken syndrome	PMID:25741868|PMID:28492532
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:10609	rickets		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10375030
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:12678	hypercalcemia		ISO	RGD:3442	D	RGD:9068941	20200609	RGD		protein:increased expression:odontoblast; associated with neoplasms	PMID:16036863|REF_RGD_ID:1599980
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:13543	hyperparathyroidism		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11014383
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:731312	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon; metaphyseal chondrodysplasia, OMIM:156400	PMID:8703170|REF_RGD_ID:1599978
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:3070	high grade glioma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:4184	pseudohypoparathyroidism		ISO	RGD:731312	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Pseudohypoparathyroidism	PMID:25741868|PMID:35846276
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:731312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:630	genetic disease		ISO	RGD:731312	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:65	connective tissue disease		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:850	lung disease		ISO	RGD:731312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20857298
12096900	PTH1R	parathyroid hormone 1 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096918	P2RY1	purinergic receptor P2Y1	gene	DOID:0060903	thrombosis		ISO	RGD:736104	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17334511
12096918	P2RY1	purinergic receptor P2Y1	gene	DOID:1875	impotence		ISO	RGD:3242	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19303093|REF_RGD_ID:2315809
12096918	P2RY1	purinergic receptor P2Y1	gene	DOID:9000998	Brain Injuries		ISO	RGD:3242	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte	PMID:19115395|REF_RGD_ID:2315811
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:7240710	20210728	OMIM			
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:0070410	autosomal recessive spinocerebellar ataxia 29		ISO	RGD:1353898	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 29	PMID:25741868
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:10534	stomach cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:1115	sarcoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:1324	lung cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:1909	melanoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:3275	thymoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:4362	cervical cancer		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:630	genetic disease		ISO	RGD:1353898	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33764426
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096923	VPS41	VPS41 subunit of HOPS complex	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:1324	lung cancer		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:5041	esophageal cancer		ISO	RGD:733856	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733856	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12096956	POLR2G	RNA polymerase II subunit G	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12096969	EMB	embigin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096969	EMB	embigin	gene	DOID:0060058	lymphoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12096969	EMB	embigin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12096969	EMB	embigin	gene	DOID:1115	sarcoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12096969	EMB	embigin	gene	DOID:1909	melanoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12096969	EMB	embigin	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1342878	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12096969	EMB	embigin	gene	DOID:4362	cervical cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096969	EMB	embigin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12096969	EMB	embigin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342878	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12096969	EMB	embigin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12096969	EMB	embigin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:25363760|REF_RGD_ID:11099981
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0060135	apraxia		ISO	RGD:1320527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1320527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:31474318
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1320527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:0080600	COVID-19		ISO	RGD:1320527	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:35255492
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:10534	stomach cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:1059	intellectual disability		ISO	RGD:1320527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)	PMID:18667698|REF_RGD_ID:11099970
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:1320528	D	RGD:9068941	20200609	RGD			PMID:21998251|REF_RGD_ID:11099996
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD			PMID:22360576|REF_RGD_ID:11100007
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1320527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia		ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:intron:c.386-24983T>C (rs4671393) (human)	PMID:22258351|REF_RGD_ID:11100005
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	severity	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.386-17267T>C (rs10189857) (human)	PMID:25751242|REF_RGD_ID:11100008
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	severity	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:snps:intron:c. 386-24002G>T, c.386-24278G>A (rs766432, rs11886868) (human)	PMID:23541515|REF_RGD_ID:11099969
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:12241	beta thalassemia	treatment	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD			PMID:25574177|REF_RGD_ID:11100011
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:1324	lung cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:2030	anxiety disorder		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:2786	cerebellar disease		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cerebellar syndrome	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:23758992|REF_RGD_ID:11099968
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:4362	cervical cancer		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:5041	esophageal cancer		ISO	RGD:1320527	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:5419	schizophrenia		ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:25938782|REF_RGD_ID:11099977
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:630	genetic disease		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22542183|PMID:25418537|PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1320527	D	RGD:9068941	20200609	RGD		DNA:translocation:5' utr: (human)	PMID:11719382|REF_RGD_ID:11100004
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1320527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1320527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320527	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1320527	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9006994	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN		ISO	RGD:1320527	D	RGD:7240710	20190315	OMIM			
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9006994	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN		ISO	RGD:1320527	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCL11A-related condition | ClinVar Annotator: match by term: BCL11A-related intellectual disability | ClinVar Annotator: match by term: Dias-Logan syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Intellectual developmental disorder with persistence of fetal hemoglobin	PMID:22542183|PMID:25418537|PMID:25741868|PMID:27453576|PMID:28492532|PMID:28891213|PMID:29758562|PMID:31474318|PMID:33116287
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9007573	Flatfoot		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9007661	Dwarfism		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12196208|PMID:25741868|PMID:25741869|PMID:29985992
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320527	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12096984	BCL11A	BCL11 transcription factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12097005	LGALSL	galectin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097005	LGALSL	galectin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097005	LGALSL	galectin like	gene	DOID:10534	stomach cancer		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097005	LGALSL	galectin like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606012	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12097005	LGALSL	galectin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097005	LGALSL	galectin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0060249	scoliosis		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:7240710	20180130	OMIM			
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0070065	autosomal dominant intellectual developmental disorder 35		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOUGE-JANSSENS SYNDROME 1 | ClinVar Annotator: match by term: Houge-Janssens syndrome 1 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35 | ClinVar Annotator: match by term: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome | ClinVar Annotator: match by term: PPP2R5D-related condition	PMID:19344873|PMID:19716788|PMID:24896178|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32595695|PMID:32743835|PMID:33004838|PMID:33338668|PMID:34490615|PMID:35586607|PMID:35887114|PMID:36216457|PMID:38150499|PMID:38764027|PMID:40712571
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:0080380	nephrotic syndrome type 5		ISO	RGD:10448644	D	RGD:9068941	20250410	ClinVar		ClinVar Annotator: match by term: Mesangial sclerosis, diffuse renal, with ocular abnormalities	PMID:25741868|PMID:30676711|PMID:32295525
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10376	amblyopia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10534	stomach cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1059	intellectual disability		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:30676711|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33098144|PMID:33338668|PMID:34490615|PMID:34906502|PMID:35887114|PMID:36216457|PMID:39169681
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1059	intellectual disability		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30676711|PMID:33098144|PMID:34906502|PMID:36216457|PMID:39169681
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:10754	otitis media		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Otitis media	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1115	sarcoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11383	cryptorchidism		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11782	astigmatism		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:11830	myopia		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1205	allergic disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergy	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:12849	autistic disorder		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1826	epilepsy		ISO	RGD:1315410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:19344873|PMID:25741868|PMID:26168268|PMID:27350047|PMID:28492532|PMID:28867141|PMID:31785789|PMID:32074998|PMID:32371413|PMID:35586607|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:1909	melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:2340	craniosynostosis		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:3044	food allergy		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Food allergy	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:3070	high grade glioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:4481	allergic rhinitis		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868|PMID:26576547|PMID:28492532
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:535	sleep disorder		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: sleep disturbance	PMID:25741868
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:540	strabismus		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:630	genetic disease		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:6364	migraine		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:680	tauopathy		ISO	RGD:1315411	D	RGD:9068941	20200609	RGD			PMID:21482799|REF_RGD_ID:13515115
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:8488	polyhydramnios		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9001581	Constipation		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003507	Premature Birth		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003591	Telecanthus		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9003816	Macrocephaly		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315410	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19344873|PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:29051493|PMID:32005694|PMID:32074998|PMID:32371413|PMID:32743835|PMID:33338668|PMID:34490615|PMID:35887114|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9007356	Eczema		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	PMID:25741868|PMID:28492532
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19344873|PMID:25533962|PMID:25741868|PMID:25972378|PMID:26168268|PMID:28492532|PMID:28867141|PMID:32371413|PMID:35586607
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:28492532|PMID:28867141|PMID:32371413|PMID:36216457
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1315410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:25972378|PMID:26168268|PMID:26576547|PMID:28492532|PMID:32074998|PMID:35813072|PMID:36216457|PMID:36833222|PMID:39201832|PMID:39825153
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12097013	PPP2R5D	protein phosphatase 2 regulatory subunit B'delta	gene	DOID:936	brain disease		ISO	RGD:1315410	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868|PMID:28492532
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:3275	thymoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:674	cleft palate		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322239	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35841383
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9000918	Disease Progression		ISO	RGD:1322239	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:35841383
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9002189	High Myopia		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:28492532
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9004584	Myopia 28		ISO	RGD:1322239	D	RGD:7240710	20220316	OMIM			
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9004584	Myopia 28		ISO	RGD:1322239	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LOXL3-related condition | ClinVar Annotator: match by term: MYOPIA 28, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopia 28, autosomal recessive	PMID:25741868|PMID:28492532|PMID:30362103|PMID:32531858|PMID:33456446
12097033	LOXL3	lysyl oxidase like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:11346394|RGD:11347479|RGD:11349237|RGD:11349413|RGD:126728028|RGD:126735089|RGD:126737044|RGD:126737710|RGD:126740947|RGD:126747196|RGD:126748226|RGD:126748242|RGD:126751537|RGD:126753485|RGD:126754241|RGD:126755872|RGD:126760876|RGD:126764072|RGD:126765018|RGD:126767359|RGD:126768148|RGD:126769005|RGD:126769305|RGD:126773539|RGD:126774747|RGD:126913668|RGD:126916173|RGD:126916897|RGD:126916954|RGD:126917823|RGD:126918930|RGD:126919337|RGD:126921912|RGD:127233370|RGD:127238397|RGD:127245650|RGD:127246123|RGD:127251883|RGD:127253537|RGD:127258569|RGD:127262861|RGD:127266782|RGD:127267667|RGD:127268581|RGD:127271403|RGD:127272257|RGD:127275652|RGD:127276422|RGD:127277283|RGD:127277918|RGD:127279433|RGD:127282231|RGD:127282745|RGD:127283141|RGD:127283302|RGD:127292911|RGD:127293456|RGD:127294375|RGD:127298609|RGD:127299309|RGD:127299817|RGD:127302193|RGD:127305161|RGD:127314533|RGD:127315195|RGD:127316498|RGD:127318402|RGD:127323781|RGD:127324653|RGD:127326639|RGD:127327297|RGD:127332035|RGD:127334957|RGD:127335421|RGD:127336650|RGD:12741261|RGD:12836353|RGD:12837120|RGD:12839006|RGD:12841911|RGD:12842336|RGD:12842476|RGD:12844300|RGD:12846731|RGD:12880796|RGD:12882820|RGD:12883067|RGD:12883887|RGD:12885599|RGD:12888890|RGD:12890371|RGD:12890815|RGD:12890843|RGD:12890998|RGD:12891199|RGD:12892034|RGD:12913615|RGD:13470429|RGD:13473171|RGD:13474758|RGD:13488113|RGD:13494370|RGD:13495553|RGD:13501393|RGD:13519923|RGD:13527898|RGD:13528930|RGD:13529657|RGD:13538494|RGD:13605866|RGD:13605867|RGD:13605868|RGD:13605869|RGD:13605870|RGD:13605871|RGD:13605872|RGD:13797295|RGD:13808523|RGD:13811430|RGD:13812286|RGD:13813479|RGD:14691366|RGD:14702869|RGD:14705936|RGD:14706147	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:11346394|RGD:11347479|RGD:11349237|RGD:11349413|RGD:126728028|RGD:126735089|RGD:126737044|RGD:126737710|RGD:126740947|RGD:126747196|RGD:126748226|RGD:126748242|RGD:126751537|RGD:126753485|RGD:126754241|RGD:126755872|RGD:126760876|RGD:126764072|RGD:126765018|RGD:126767359|RGD:126768148|RGD:126769005|RGD:126769305|RGD:126773539|RGD:126774747|RGD:126913668|RGD:126916173|RGD:126916897|RGD:126916954|RGD:126917823|RGD:126918930|RGD:126919337|RGD:126921912|RGD:127233370|RGD:127238397|RGD:127245650|RGD:127246123|RGD:127251883|RGD:127253537|RGD:127258569|RGD:127262861|RGD:127266782|RGD:127267667|RGD:127268581|RGD:127271403|RGD:127272257|RGD:127275652|RGD:127276422|RGD:127277283|RGD:127277918|RGD:127279433|RGD:127282231|RGD:127282745|RGD:127283141|RGD:127283302|RGD:127292911|RGD:127293456|RGD:127294375|RGD:127298609|RGD:127299309|RGD:127299817|RGD:127302193|RGD:127305161|RGD:127314533|RGD:127315195|RGD:127316498|RGD:127318402|RGD:127323781|RGD:127324653|RGD:127326639|RGD:127327297|RGD:127332035|RGD:127334957|RGD:127335421|RGD:127336650|RGD:12741261|RGD:12836353|RGD:12837120|RGD:12839006|RGD:12841911|RGD:12842336|RGD:12842476|RGD:12844300|RGD:12846731|RGD:12880796|RGD:12882820|RGD:12883067|RGD:12883887|RGD:12885599|RGD:12888890|RGD:12890371|RGD:12890815|RGD:12890843|RGD:12890998|RGD:12891199|RGD:12892034|RGD:12913615|RGD:13470429|RGD:13474758|RGD:13488113|RGD:13494370|RGD:13495553|RGD:13501393|RGD:13519923|RGD:13527898|RGD:13528930|RGD:13529657|RGD:13538494|RGD:13605866|RGD:13605867|RGD:13605868|RGD:13605869|RGD:13605870|RGD:13605871|RGD:13605872|RGD:13797295|RGD:13808523|RGD:13811430|RGD:13812286|RGD:13813479|RGD:14691366|RGD:14702869|RGD:14705936|RGD:14706147|RGD:14712555	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:14712555|RGD:14721250|RGD:14728459|RGD:14731302|RGD:14743746|RGD:150409896|RGD:150533930|RGD:15105267|RGD:15105657|RGD:15107782|RGD:15116581|RGD:15119704|RGD:15124549|RGD:15130463|RGD:15132061|RGD:15136997|RGD:15137589|RGD:15138651|RGD:15157081|RGD:151713422|RGD:151723704|RGD:151724649|RGD:151733618|RGD:15174039|RGD:151745714|RGD:151748478|RGD:151751647|RGD:151753327|RGD:151757455|RGD:151757979|RGD:151758719|RGD:15176688|RGD:151769521|RGD:151772243|RGD:151774387|RGD:151782158|RGD:151795093|RGD:151796281|RGD:151797054|RGD:151799677|RGD:151800661|RGD:151804301|RGD:151804627|RGD:151805445|RGD:151811769|RGD:151812531|RGD:151817366|RGD:151821173|RGD:151823285|RGD:151830409|RGD:151836019|RGD:151836745|RGD:151837109|RGD:151845901|RGD:151853779|RGD:151854252|RGD:151856537|RGD:151856966|RGD:151861255|RGD:151862952|RGD:151865163|RGD:151872713|RGD:151889144|RGD:151889640|RGD:151890890|RGD:15194268|RGD:15194390|RGD:15195861|RGD:15200610|RGD:152026978|RGD:152033988|RGD:152035125|RGD:152035260|RGD:152038875|RGD:152041040|RGD:152043208|RGD:152047720|RGD:152050269|RGD:152050475|RGD:152053995|RGD:152057659|RGD:152057790|RGD:152059484|RGD:152075738|RGD:152082086|RGD:152086419|RGD:152086907|RGD:152087997|RGD:152088874|RGD:152094078|RGD:152097117|RGD:152101804|RGD:152104703|RGD:152110065|RGD:152113149|RGD:152115513|RGD:152115569|RGD:152116512|RGD:152117932|RGD:152122046|RGD:152122457|RGD:152122799|RGD:152123450|RGD:152123703|RGD:152124380|RGD:152125316|RGD:152126997|RGD:152133337|RGD:152137719|RGD:152141917|RGD:152142270|RGD:152143507|RGD:152145122|RGD:152147049|RGD:152148758|RGD:152149288|RGD:152152420|RGD:152156235|RGD:152158732|RGD:152159429|RGD:152159805|RGD:152159967|RGD:152170961	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:14721250|RGD:14728459|RGD:14731302|RGD:14743746|RGD:150409896|RGD:150533930|RGD:15105267|RGD:15105657|RGD:15107782|RGD:15116581|RGD:15119704|RGD:15124549|RGD:15130463|RGD:15132061|RGD:15136997|RGD:15137589|RGD:15138651|RGD:15157081|RGD:151713422|RGD:151723704|RGD:151724649|RGD:151733618|RGD:15174039|RGD:151745714|RGD:151748478|RGD:151751647|RGD:151753327|RGD:151757455|RGD:151757979|RGD:151758719|RGD:15176688|RGD:151769521|RGD:151772243|RGD:151774387|RGD:151782158|RGD:151795093|RGD:151796281|RGD:151797054|RGD:151799677|RGD:151800661|RGD:151804301|RGD:151804627|RGD:151805445|RGD:151811769|RGD:151812531|RGD:151817366|RGD:151821173|RGD:151823285|RGD:151830409|RGD:151836019|RGD:151836745|RGD:151837109|RGD:151845901|RGD:151853779|RGD:151854252|RGD:151856537|RGD:151856966|RGD:151861255|RGD:151862952|RGD:151865163|RGD:151872713|RGD:151889144|RGD:151889640|RGD:151890890|RGD:15194268|RGD:15194390|RGD:15195861|RGD:15200610|RGD:152026978|RGD:152033988|RGD:152035125|RGD:152035260|RGD:152038875|RGD:152041040|RGD:152043208|RGD:152047720|RGD:152050269|RGD:152050475|RGD:152053995|RGD:152057659|RGD:152057790|RGD:152059484|RGD:152075738|RGD:152082086|RGD:152086419|RGD:152086907|RGD:152087997|RGD:152088874|RGD:152094078|RGD:152097117|RGD:152101804|RGD:152104703|RGD:152110065|RGD:152113149|RGD:152115513|RGD:152115569|RGD:152116512|RGD:152117932|RGD:152122046|RGD:152122457|RGD:152122799|RGD:152123450|RGD:152123703|RGD:152124380|RGD:152125316|RGD:152126997|RGD:152133337|RGD:152137719|RGD:152141917|RGD:152142270|RGD:152143507|RGD:152145122|RGD:152147049|RGD:152148758|RGD:152149288|RGD:152152420|RGD:152156235|RGD:152158732|RGD:152159429|RGD:152159805|RGD:152159967|RGD:152170961|RGD:152175999	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:152175999|RGD:152176427|RGD:153002530|RGD:155689800|RGD:155705445|RGD:155706794|RGD:155721355|RGD:155742325|RGD:155749055|RGD:155904587|RGD:155928557|RGD:155937438|RGD:155947378|RGD:155950882|RGD:155958320|RGD:155964988|RGD:155967986|RGD:155982050|RGD:155996255|RGD:156008542|RGD:156016331|RGD:156026702|RGD:156026948|RGD:156035025|RGD:156041509|RGD:156046443|RGD:156046674|RGD:156049046|RGD:156052197|RGD:156074101|RGD:156077388|RGD:156096507|RGD:156115691|RGD:156116773|RGD:156122682|RGD:156125026|RGD:156145308|RGD:156152395|RGD:156155655|RGD:156161815|RGD:156182077|RGD:156187878|RGD:156194757|RGD:156197205|RGD:156197279|RGD:156207568|RGD:156259739|RGD:156265213|RGD:156272397|RGD:156274898|RGD:156280288|RGD:156285008|RGD:156293414|RGD:156294983|RGD:156297813|RGD:156315560|RGD:156316703|RGD:156330206|RGD:156332175|RGD:156343607|RGD:156350316|RGD:156351689|RGD:156359400|RGD:156363736|RGD:156396931|RGD:156405714|RGD:156409573|RGD:156411107|RGD:156415069|RGD:156419401|RGD:156436132|RGD:156439209|RGD:156441481|RGD:156441484|RGD:156445095|RGD:156445411|RGD:26886955|RGD:26895536|RGD:26905952|RGD:26913173|RGD:26917036|RGD:26922167|RGD:34891285|RGD:34896629|RGD:34896633|RGD:38457167|RGD:38470724|RGD:38473071|RGD:38475491|RGD:38475724|RGD:38477031|RGD:38478725|RGD:38480299|RGD:38480442|RGD:38481252|RGD:38485038|RGD:38485103|RGD:38486161|RGD:38488591|RGD:38489881|RGD:38490571|RGD:38492752|RGD:38493267|RGD:38493339|RGD:402484831|RGD:402486229|RGD:402486375|RGD:402488381|RGD:402490650|RGD:402490931|RGD:402490971|RGD:402491304|RGD:402494219|RGD:402496660|RGD:402496845|RGD:402497112|RGD:402497335|RGD:402497975|RGD:402498221|RGD:402498350|RGD:402499217|RGD:402499377|RGD:402499551	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:152176427|RGD:153002530|RGD:155689800|RGD:155705445|RGD:155706794|RGD:155721355|RGD:155742325|RGD:155749055|RGD:155904587|RGD:155928557|RGD:155937438|RGD:155947378|RGD:155950882|RGD:155958320|RGD:155964988|RGD:155967986|RGD:155982050|RGD:155996255|RGD:156008542|RGD:156016331|RGD:156026702|RGD:156026948|RGD:156035025|RGD:156041509|RGD:156046443|RGD:156046674|RGD:156049046|RGD:156052197|RGD:156074101|RGD:156077388|RGD:156096507|RGD:156115691|RGD:156116773|RGD:156122682|RGD:156125026|RGD:156145308|RGD:156152395|RGD:156155655|RGD:156161815|RGD:156182077|RGD:156187878|RGD:156194757|RGD:156197205|RGD:156197279|RGD:156207568|RGD:156259739|RGD:156265213|RGD:156272397|RGD:156274898|RGD:156280288|RGD:156285008|RGD:156293414|RGD:156294983|RGD:156297813|RGD:156315560|RGD:156316703|RGD:156330206|RGD:156332175|RGD:156343607|RGD:156350316|RGD:156351689|RGD:156359400|RGD:156363736|RGD:156396931|RGD:156405714|RGD:156409573|RGD:156411107|RGD:156415069|RGD:156419401|RGD:156436132|RGD:156439209|RGD:156441481|RGD:156441484|RGD:156445095|RGD:156445411|RGD:26886955|RGD:26895536|RGD:26905952|RGD:26913173|RGD:26917036|RGD:26922167|RGD:34891285|RGD:34896629|RGD:34896633|RGD:38457167|RGD:38470724|RGD:38473071|RGD:38475491|RGD:38475724|RGD:38477031|RGD:38478725|RGD:38480299|RGD:38480442|RGD:38481252|RGD:38485038|RGD:38485103|RGD:38486161|RGD:38488591|RGD:38489881|RGD:38490571|RGD:38492752|RGD:38493267|RGD:38493339|RGD:402484831|RGD:402486229|RGD:402486375|RGD:402488381|RGD:402490650|RGD:402490931|RGD:402490971|RGD:402491304|RGD:402494219|RGD:402496660|RGD:402496845|RGD:402497112|RGD:402497335|RGD:402497975|RGD:402498221|RGD:402498350|RGD:402499217|RGD:402499377|RGD:402499551|RGD:402499794	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:402499794|RGD:402501104|RGD:402501147|RGD:402501751|RGD:402503186|RGD:402503591|RGD:405000808|RGD:405003483|RGD:405004453|RGD:405004725|RGD:405007991|RGD:405008048|RGD:405009272|RGD:405010035|RGD:405010631|RGD:405010972|RGD:405012219|RGD:405012956|RGD:405013631|RGD:405015602|RGD:405015639|RGD:405016332|RGD:405016735|RGD:405018047|RGD:405020319|RGD:405021229|RGD:405021490|RGD:405026268|RGD:405029623|RGD:405031586|RGD:405143425|RGD:405145049|RGD:405160217|RGD:405181744|RGD:405221846|RGD:405249485|RGD:405253520|RGD:405875190|RGD:40813850|RGD:40903250|RGD:9586841|RGD:9832737|RGD:9832739|RGD:9832740|RGD:9832742	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:402501104|RGD:402501147|RGD:402501751|RGD:402503186|RGD:402503591|RGD:405000808|RGD:405003483|RGD:405004453|RGD:405004725|RGD:405007991|RGD:405008048|RGD:405009272|RGD:405010035|RGD:405010631|RGD:405010972|RGD:405012219|RGD:405012956|RGD:405013631|RGD:405015602|RGD:405015639|RGD:405016332|RGD:405016735|RGD:405018047|RGD:405020319|RGD:405021229|RGD:405021490|RGD:405026268|RGD:405029623|RGD:405031586|RGD:405143425|RGD:405145049|RGD:405160217|RGD:405181744|RGD:405221846|RGD:405249485|RGD:405253520|RGD:405875190|RGD:40813850|RGD:40903250|RGD:9586841|RGD:9832737|RGD:9832739|RGD:9832740|RGD:9832742	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8563224	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31775759|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8569126	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:16170316|PMID:16372351|PMID:16443854|PMID:16835863|PMID:17601930|PMID:18039947|PMID:18042262|PMID:19382114|PMID:21850009|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25741868|PMID:26619011|PMID:28027064|PMID:28492532|PMID:31394527
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8569127	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:12835555|PMID:20937837|PMID:22499344|PMID:22683711|PMID:23096712|PMID:23884457|PMID:24006476|PMID:24129065|PMID:24390138|PMID:25741868|PMID:27444071|PMID:30191474|PMID:31775759|PMID:33027564
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050469	Costello syndrome		ISO	RGD:8599073	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: FCS syndrome	PMID:16329078|PMID:16372351|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19773371|PMID:21438134|PMID:21495179|PMID:21850009|PMID:23093928|PMID:23406027|PMID:23429430|PMID:24033266|PMID:25157968|PMID:25326635|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29493581
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26580448|PMID:26619011|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0080690	RASopathy		ISO	RGD:1604547	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:10716188|PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20301680|PMID:20658932|PMID:20660566|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21779495|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:2674130|PMID:26916728|PMID:27102959|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:3004741|PMID:31222966|PMID:31394527|PMID:31775759|PMID:3283542|PMID:3304147|PMID:33372952|PMID:34008892|PMID:6287572|PMID:6287573|PMID:6288698
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0111162	epidermal nevus		ISO	RGD:1604547	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epidermal nevus | ClinVar Annotator: match by term: NEVUS, KERATINOCYTIC, NONEPIDERMOLYTIC | ClinVar Annotator: match by term: Nevus sebaceous	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:25914166|PMID:26467025|PMID:26561417|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:33027564|PMID:33372952|PMID:34008892|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0111359	large congenital melanocytic nevus		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Congenital giant melanocytic nevus | ClinVar Annotator: match by term: Large congenital melanocytic nevus | ClinVar Annotator: match by term: MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC	PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:31394527|PMID:32165824
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:7240710	20190315	OMIM			
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition	PMID:25741868|PMID:28492532|PMID:30388400
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:0111854	primary ciliary dyskinesia 39		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 39 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30388400|PMID:9536098
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Urinary bladder cancer	PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:19213030|PMID:19255327|PMID:19382114|PMID:19773371|PMID:20301680|PMID:20979192|PMID:21403836|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22190897|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23406027|PMID:23429430|PMID:23487764|PMID:23751039|PMID:24033266|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26561417|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28371260|PMID:28492532|PMID:29493581|PMID:2999610|PMID:31222966|PMID:31394527|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:1107	esophageal carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:12849	autistic disorder		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:2999610|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078|PMID:3537694|PMID:6092966|PMID:6330729|PMID:7177195|PMID:8960317
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:1909	melanoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:1969	cerebral palsy		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3490	Noonan syndrome		ISO	RGD:1604547	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17412879|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19371735|PMID:19669404|PMID:20301680|PMID:20660566|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22683711|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24224811|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26580448|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31222966|PMID:31775759|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung | ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32165824|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:30191474|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:4362	cervical cancer		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:4465	papillary renal cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Papillary renal cell carcinoma, sporadic	PMID:11150980|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19371735|PMID:19382114|PMID:19669404|PMID:20660566|PMID:20979192|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22926243|PMID:23093928|PMID:23429430|PMID:23751039|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24803665|PMID:25157968|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31222966|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:8923	skin melanoma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:21403836|PMID:24033266|PMID:25346259|PMID:25741868|PMID:25742471|PMID:26580448|PMID:28492532
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:11150980|PMID:12727991|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18642361|PMID:18978862|PMID:1904555|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:19855393|PMID:20658932|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:2105486|PMID:21344638|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25695684|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26916728|PMID:27102959|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143|PMID:3510078
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acute myelogenous leukemia	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia, adult	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:31394527|PMID:31775759|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17979197|PMID:18039947|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:33372952|PMID:34008892
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25815234|PMID:25914166|PMID:26467025|PMID:26619011|PMID:26778095|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28328122|PMID:28492532|PMID:29493581|PMID:30055033|PMID:30138938|PMID:31394527|PMID:31560489|PMID:31564432|PMID:31775759|PMID:32371413|PMID:32732226|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097056	LRRC56	leucine rich repeat containing 56	gene	DOID:9538	multiple myeloma		ISO	RGD:1604547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:11150980|PMID:12835555|PMID:16155195|PMID:16170316|PMID:16329078|PMID:16372351|PMID:16443854|PMID:168335863|PMID:16835863|PMID:16881968|PMID:16969868|PMID:17054105|PMID:17211612|PMID:17384584|PMID:17412879|PMID:17601930|PMID:17979197|PMID:18039947|PMID:18042262|PMID:18247425|PMID:18978862|PMID:19206176|PMID:19213030|PMID:19255327|PMID:19371735|PMID:19382114|PMID:19669404|PMID:19773371|PMID:20301680|PMID:20660566|PMID:20859122|PMID:20937837|PMID:20979192|PMID:21438134|PMID:21495179|PMID:21686750|PMID:21834037|PMID:21850009|PMID:22087699|PMID:22256804|PMID:22317973|PMID:22420426|PMID:22495892|PMID:22499344|PMID:22683711|PMID:22726224|PMID:22926243|PMID:23093928|PMID:23096712|PMID:23406027|PMID:23429430|PMID:23751039|PMID:23884457|PMID:24006476|PMID:24033266|PMID:24129065|PMID:24169525|PMID:24224811|PMID:24390138|PMID:24803665|PMID:25157968|PMID:25326635|PMID:25741868|PMID:25914166|PMID:26467025|PMID:26619011|PMID:27195699|PMID:27283355|PMID:27444071|PMID:27589201|PMID:28027064|PMID:28139825|PMID:28492532|PMID:29493581|PMID:30191474|PMID:31222966|PMID:31394527|PMID:31775759|PMID:32732226|PMID:33027564|PMID:33372952|PMID:34008892|PMID:34958143
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:10283	prostate cancer		ISO	RGD:1346745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:10283	prostate cancer		ISO	RGD:1346745	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:10534	stomach cancer		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:1115	sarcoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:1324	lung cancer		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:1909	melanoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:3070	high grade glioma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:3275	thymoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:4362	cervical cancer		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1346745	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097084	PLEKHA4	pleckstrin homology domain containing A4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346745	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097109	MED26	mediator complex subunit 26	gene	DOID:10534	stomach cancer		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097109	MED26	mediator complex subunit 26	gene	DOID:1115	sarcoma		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097109	MED26	mediator complex subunit 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12097109	MED26	mediator complex subunit 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097109	MED26	mediator complex subunit 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733372	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:10534	stomach cancer		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:1324	lung cancer		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:3275	thymoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:4362	cervical cancer		ISO	RGD:733372	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:5041	esophageal cancer		ISO	RGD:733372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097129	HIP1R	huntingtin interacting protein 1 related	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097164	SLC25A28	solute carrier family 25 member 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097164	SLC25A28	solute carrier family 25 member 28	gene	DOID:1115	sarcoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097164	SLC25A28	solute carrier family 25 member 28	gene	DOID:1909	melanoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097164	SLC25A28	solute carrier family 25 member 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097164	SLC25A28	solute carrier family 25 member 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:0060058	lymphoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:10534	stomach cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:1324	lung cancer		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097175	MEPCE	methylphosphate capping enzyme	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:0080600	COVID-19		ISO	RGD:736539	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:10283	prostate cancer		ISO	RGD:736539	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:10283	prostate cancer		ISO	RGD:736539	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:1115	sarcoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:1324	lung cancer		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:736539	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium	PMID:15745937|REF_RGD_ID:1579943
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:65	connective tissue disease		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097183	TGFBR3	transforming growth factor beta receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:10534	stomach cancer		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:3070	high grade glioma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:3275	thymoma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350050	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097208	DCP1A	decapping mRNA 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350050	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097225	WBP2	WW domain binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097225	WBP2	WW domain binding protein 2	gene	DOID:0080262	autosomal recessive nonsyndromic deafness 107		ISO	RGD:1348215	D	RGD:7240710	20190315	OMIM			
12097225	WBP2	WW domain binding protein 2	gene	DOID:0080262	autosomal recessive nonsyndromic deafness 107		ISO	RGD:1348215	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 107 | ClinVar Annotator: match by term: Deafness, autosomal recessive 107 | ClinVar Annotator: match by term: WBP2-related condition	PMID:25741868|PMID:28492532
12097225	WBP2	WW domain binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097225	WBP2	WW domain binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097225	WBP2	WW domain binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097225	WBP2	WW domain binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097225	WBP2	WW domain binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097225	WBP2	WW domain binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097225	WBP2	WW domain binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097225	WBP2	WW domain binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097243	TUSC2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097243	TUSC2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097243	TUSC2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097243	TUSC2	tumor suppressor 2, mitochondrial calcium regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:0060968	hypotrichosis 15		ISO	RGD:1606226	D	RGD:7240710	20230104	OMIM			
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:0060968	hypotrichosis 15		ISO	RGD:1606226	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTRICHOSIS 15 | ClinVar Annotator: match by term: Hypotrichosis 15	PMID:25741868
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:3275	thymoma		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097258	C33H3orf52	chromosome 33 C3orf52 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:10534	stomach cancer		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1347694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460840|PMID:21460841
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:1115	sarcoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:1909	melanoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:4362	cervical cancer		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:5041	esophageal cancer		ISO	RGD:1347694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097270	LOC100686511	myeloid cell surface antigen CD33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:1909	melanoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:3275	thymoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097282	C5H16orf46	chromosome 5 C16orf46 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1345260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:733019	D	RGD:9068941	20220908	RGD		protein:increased expression:saliva	PMID:29199150|REF_RGD_ID:153350131
12097300	PRDX2	peroxiredoxin 2	gene	DOID:10320	asbestosis		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
12097300	PRDX2	peroxiredoxin 2	gene	DOID:10534	stomach cancer		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:14250	Down syndrome		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11771762
12097300	PRDX2	peroxiredoxin 2	gene	DOID:1909	melanoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:305	carcinoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12097300	PRDX2	peroxiredoxin 2	gene	DOID:3347	osteosarcoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23911960
12097300	PRDX2	peroxiredoxin 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097300	PRDX2	peroxiredoxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12097300	PRDX2	peroxiredoxin 2	gene	DOID:8692	myeloid leukemia		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16932348
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9000058	Keloid		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23911960
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733019	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12097300	PRDX2	peroxiredoxin 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:733019	D	RGD:9068941	20220909	RGD			PMID:23393224|REF_RGD_ID:153350137
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA,protein:increased expression:prostate (human)	PMID:21625523|REF_RGD_ID:152995425
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:1324	lung cancer		ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA:increased expression:lung (human)	PMID:25625007|REF_RGD_ID:152995427
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:1520	colon carcinoma		ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA,protein:increased expression:colon (human)	PMID:19074900|REF_RGD_ID:152995419
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA:increased expression:colon (human)	PMID:25625007|REF_RGD_ID:152995427
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA:increased expression:overy (human)	PMID:29577869|REF_RGD_ID:152995440
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:2998	testicular cancer		ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA:decreased expression:testis (human)	PMID:21625523|REF_RGD_ID:152995425
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:3007	breast ductal carcinoma	disease_progression	ISO	RGD:1350750	D	RGD:9068941	20220617	RGD		protein:decreased expression:breast (human)	PMID:17760952|REF_RGD_ID:152995410
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		protein:decreased expression:liver (human)	PMID:21626360|REF_RGD_ID:152995417
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		mRNA,protein:decreased expression:liver (human)	PMID:32534581|REF_RGD_ID:152995423
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1350750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22326869|PMID:25625007
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9004351	Digestive System Neoplasms	severity	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		protein:increased expression:colon,rectum,pancreas (human)	PMID:25611302|REF_RGD_ID:152995429
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9004486	Drug-induced Neutropenia	no_association	ISO	RGD:1350750	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP: rs11045585(human)	PMID:23188068|REF_RGD_ID:11080999
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:1350750	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP:rs11045585(human)	PMID:18294295|REF_RGD_ID:11080980
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9005094	Hereditary Hyperbilirubinemia		ISO	RGD:1350750	D	RGD:7240710	20180131	OMIM			
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9005094	Hereditary Hyperbilirubinemia		ISO	RGD:1350750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rotor syndrome	PMID:25741868
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1350750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22326869|PMID:25625007
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1350750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29491222
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9253	gastrointestinal stromal tumor	treatment	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		DNA:SNP:: (rs4149117) (human)	PMID:29054076|REF_RGD_ID:152995424
12097421	SLCO1B2	solute carrier organic anion transporter family member 1B2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1350750	D	RGD:9068941	20220623	RGD		protein:increased expression:colorectum (human)	PMID:21677819|REF_RGD_ID:152995437
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:25741868
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1314331	D	RGD:9068941	20220825	MouseDO		OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1314330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:3275	thymoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097454	BMP5	bone morphogenetic protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:0060058	lymphoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1347391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097465	COPG2	COPI coat complex subunit gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:2999	granulosa cell tumor		ISO	RGD:735310	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:significantly higher vs epithelial tumors or normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:3275	thymoma		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:6000	congestive heart failure		ISO	RGD:735310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097506	PRKAR2B	protein kinase cAMP-dependent type II regulatory subunit beta	gene	DOID:9970	obesity		ISO	RGD:735310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20975297
12097528	SEMA3D	semaphorin 3D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097528	SEMA3D	semaphorin 3D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097528	SEMA3D	semaphorin 3D	gene	DOID:0080815	childhood-onset asthma	exacerbates	ISO	RGD:1348225	D	RGD:9068941	20251206	RGD		DNA:SNP:intron:rs993312	PMID:26073756|REF_RGD_ID:11074595
12097528	SEMA3D	semaphorin 3D	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:27876815
12097528	SEMA3D	semaphorin 3D	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1348225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	PMID:25741868|PMID:28492532
12097528	SEMA3D	semaphorin 3D	gene	DOID:10534	stomach cancer		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097528	SEMA3D	semaphorin 3D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097528	SEMA3D	semaphorin 3D	gene	DOID:1324	lung cancer		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097528	SEMA3D	semaphorin 3D	gene	DOID:1909	melanoma		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097528	SEMA3D	semaphorin 3D	gene	DOID:3275	thymoma		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097528	SEMA3D	semaphorin 3D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097528	SEMA3D	semaphorin 3D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097528	SEMA3D	semaphorin 3D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:10534	stomach cancer		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:1115	sarcoma		ISO	RGD:1342979	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:1909	melanoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:5041	esophageal cancer		ISO	RGD:1342979	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097555	EIF3K	eukaryotic translation initiation factor 3 subunit K	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342979	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12097567	DYRK4	dual specificity tyrosine phosphorylation regulated kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097610	CCL23	chemokine (C-C motif) ligand 23	gene	DOID:1115	sarcoma		ISO	RGD:1348813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097610	CCL23	chemokine (C-C motif) ligand 23	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348813	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23056237
12097610	CCL23	chemokine (C-C motif) ligand 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316115	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1316115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097618	ZFAND3	zinc finger AN1-type containing 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316115	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097639	RPL7L1	ribosomal protein L7 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:0080822	aspirin-induced respiratory disease	susceptibility	ISO	RGD:735845	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:rs192808(human)	PMID:20860846|REF_RGD_ID:13524562
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:1324	lung cancer		ISO	RGD:735845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:5041	esophageal cancer		ISO	RGD:735845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097653	CACNG6	calcium voltage-gated channel auxiliary subunit gamma 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733192	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:0060224	atrial fibrillation	no_association	ISO	RGD:733192	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs4642101 (human)	PMID:29459676|REF_RGD_ID:18899563
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1115	sarcoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1324	lung cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:1909	melanoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:3275	thymoma		ISO	RGD:733192	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:733192	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9001136	Familial Cerebral Cavernous Malformation		ISO	RGD:1551563	D	RGD:9068941	20200609	RGD			PMID:31426861|REF_RGD_ID:18899564
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9008652	Postoperative Atrial Fibrillation		ISO	RGD:733192	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs4642101 (human)	PMID:27203392|REF_RGD_ID:18899562
12097662	CAND2	cullin associated and neddylation dissociated 2 (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:1115	sarcoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:1909	melanoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097691	ANKRD22	ankyrin repeat domain 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349524	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097704	FRMPD2	FERM and PDZ domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097737	MCU	mitochondrial calcium uniporter	gene	DOID:1115	sarcoma		ISO	RGD:1343502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097737	MCU	mitochondrial calcium uniporter	gene	DOID:3070	high grade glioma		ISO	RGD:1343502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12097737	MCU	mitochondrial calcium uniporter	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097737	MCU	mitochondrial calcium uniporter	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:1313500	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:0060412	chromosome 1q41-q42 deletion syndrome		ISO	RGD:1313501	D	RGD:9068941	20220825	MouseDO		OMIM:612530	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313500	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313500	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1313500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097757	TP53BP2	tumor protein p53 binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1347245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:0080600	COVID-19		ISO	RGD:1347245	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347245	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1553451	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1347245	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:12626344|REF_RGD_ID:5130912
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:13564	aspergillosis		ISO	RGD:1553451	D	RGD:9068941	20200609	RGD		associated with Neutropenia	PMID:19783686|REF_RGD_ID:5130908
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:1824	status epilepticus		ISO	RGD:1347245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17181556
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:1909	melanoma		ISO	RGD:1347245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:2841	asthma		ISO	RGD:1553451	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, dendritic cell (mouse)	PMID:19917684|REF_RGD_ID:8549811
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:552	pneumonia		ISO	RGD:1347245	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:16394278|REF_RGD_ID:5130919
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:874	bacterial pneumonia		ISO	RGD:1553451	D	RGD:9068941	20200609	RGD			PMID:20176793|REF_RGD_ID:5130918
12097785	CCR7	C-C motif chemokine receptor 7	gene	DOID:8778	Crohn's disease		ISO	RGD:1347245	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:1115	sarcoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:1324	lung cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:3070	high grade glioma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:3275	thymoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1606819	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood lymphocyte (human)	PMID:23006766|REF_RGD_ID:11041891
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1606819	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097834	MTREX	Mtr4 exosome RNA helicase	gene	DOID:9256	colorectal cancer		ISO	RGD:1606819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:0111497	combined oxidative phosphorylation deficiency 34		ISO	RGD:1319351	D	RGD:7240710	20190315	OMIM			
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:0111497	combined oxidative phosphorylation deficiency 34		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 34 | ClinVar Annotator: match by term: MRPS7-related condition	PMID:25741868|PMID:28492532
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:6039	uveal melanoma		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12097865	MRPS7	mitochondrial ribosomal protein S7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12097884	NECAB1	N-terminal EF-hand calcium binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:10534	stomach cancer		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:1909	melanoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:4362	cervical cancer		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12097899	HCST	hematopoietic cell signal transducer	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1312327	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:0070502	mitochondrial complex IV deficiency nuclear type 17		ISO	RGD:1312327	D	RGD:7240710	20201111	OMIM			
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:0070502	mitochondrial complex IV deficiency nuclear type 17		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COA8-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 17	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:1324	lung cancer		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:1826	epilepsy		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:1909	melanoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:607	paraplegia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:630	genetic disease		ISO	RGD:1312327	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25175347|PMID:25741868|PMID:28492532
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12097931	COA8	cytochrome c oxidase assembly factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12097940	DNAJC14	DnaJ heat shock protein family (Hsp40) member C14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12097940	DNAJC14	DnaJ heat shock protein family (Hsp40) member C14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12097940	DNAJC14	DnaJ heat shock protein family (Hsp40) member C14	gene	DOID:5041	esophageal cancer		ISO	RGD:1349604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12097940	DNAJC14	DnaJ heat shock protein family (Hsp40) member C14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12097940	DNAJC14	DnaJ heat shock protein family (Hsp40) member C14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1351471	D	RGD:9068941	20260507	RGD		protein:decreased expression:lung	PMID:20836851|REF_RGD_ID:645244059
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0110031	hemoglobin H disease		ISO	RGD:1351471	D	RGD:7240710	20180130	OMIM			
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0110031	hemoglobin H disease		ISO	RGD:1351471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN H DISEASE, DELETIONAL	PMID:12403490|PMID:16370486|PMID:17052927|PMID:17486500|PMID:18420733|PMID:19349619|PMID:21950764|PMID:24111644|PMID:25741868|PMID:26467025|PMID:26485748|PMID:38535125|PMID:7786798
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0111363	Heinz body anemia		ISO	RGD:1351471	D	RGD:7240710	20180130	OMIM			
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0111363	Heinz body anemia		ISO	RGD:1351471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia	PMID:12403490|PMID:16370486|PMID:17052927|PMID:17486500|PMID:18420733|PMID:19349619|PMID:21950764|PMID:24111644|PMID:25741868|PMID:26467025|PMID:26485748|PMID:38535125|PMID:7786798
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0111631	familial erythrocytosis 7		ISO	RGD:1351471	D	RGD:7240710	20190315	OMIM			
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:0111631	familial erythrocytosis 7		ISO	RGD:1351471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROCYTOSIS 7 | ClinVar Annotator: match by term: Erythrocytosis, familial, 7	PMID:12403490|PMID:16370486|PMID:17052927|PMID:17486500|PMID:18420733|PMID:19349619|PMID:21950764|PMID:24111644|PMID:25741868|PMID:26467025|PMID:26485748|PMID:38535125|PMID:7786798
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:10241	thalassemia		ISO	RGD:1351471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN TUNIS-BIZERTE | ClinVar Annotator: match by term: Thalassemia	PMID:25741868|PMID:38535125|PMID:7786798
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:10763	hypertension	sexual_dimorphism	ISO	RGD:1359364	D	RGD:9068941	20260507	RGD		mRNA:increased expression:kidney	PMID:27521802|REF_RGD_ID:645244057
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:10783	methemoglobinemia		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3026948
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:1351471	D	RGD:7240710	20180130	OMIM			
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:1351471	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alpha thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN CHAROLLES | ClinVar Annotator: match by term: alpha Thalassemia	PMID:10569720|PMID:10569723|PMID:10997982|PMID:11074535|PMID:11558897|PMID:11791872|PMID:12403490|PMID:13500096|PMID:13536534|PMID:1428945|PMID:1487419|PMID:14978697|PMID:15008259|PMID:15658192|PMID:16370486|PMID:16798638|PMID:17052927|PMID:17486494|PMID:17486500|PMID:18420733|PMID:19205971|PMID:19349619|PMID:19373587|PMID:19636270|PMID:20100235|PMID:20144601|PMID:20147853|PMID:20301608|PMID:20353346|PMID:20507641|PMID:20574732|PMID:20615730|PMID:20838957|PMID:2101839|PMID:21045395|PMID:21599435|PMID:21950764|PMID:22384838|PMID:22638758|PMID:22738642|PMID:22924376|PMID:23402770|PMID:23806041|PMID:24081251|PMID:24111644|PMID:24200101|PMID:24261598|PMID:24432778|PMID:24716903|PMID:24826793|PMID:24829075|PMID:25109349|PMID:25130136|PMID:25342395|PMID:25354131|PMID:25370869|PMID:25669128|PMID:25741868|PMID:25976776|PMID:26329872|PMID:26467025|PMID:26485748|PMID:26531168|PMID:26635043|PMID:26878087|PMID:26911300|PMID:27173219|PMID:27207683|PMID:27665672|PMID:27686733|PMID:27821014|PMID:28125089|PMID:28160324|PMID:28526955|PMID:28696843|PMID:2882671|PMID:28865746|PMID:29115167|PMID:29484903|PMID:29627922|PMID:29749692|PMID:30151892|PMID:30275481|PMID:30489691|PMID:30830998|PMID:31273613|PMID:31304855|PMID:31388286|PMID:31553106|PMID:31693295|PMID:32448026|PMID:32472543|PMID:32597250|PMID:32769347|PMID:32995874|PMID:33059511|PMID:33439495|PMID:33593224|PMID:33887194|PMID:34082638|PMID:34293487|PMID:34786089|PMID:34871348|PMID:35068381|PMID:35780822|PMID:36059093|PMID:36567661|PMID:36630651|PMID:36695330|PMID:3680504|PMID:36815319|PMID:3754245|PMID:38535125|PMID:38990295|PMID:39252479|PMID:39256948|PMID:39286901|PMID:4503918|PMID:4503919|PMID:4646552|PMID:4986187|PMID:508945|PMID:5169069|PMID:5288820|PMID:5410724|PMID:5460202|PMID:5475469|PMID:5870555|PMID:640847|PMID:646867|PMID:6490612|PMID:6725558|PMID:6882779|PMID:7448125|PMID:7470621|PMID:7786798|PMID:7803274|PMID:8237999|PMID:8251382|PMID:9029003|PMID:949043
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:1351471	D	RGD:9068941	20260507	RGD		associated with critical COVID-19;mRNA:altered expression:peripheral blood mononuclear cell	PMID:39161760|REF_RGD_ID:632527147
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:1351471	D	RGD:9068941	20260226	RGD		mRNA:increased expression:blood	PMID:34774109|REF_RGD_ID:632527145
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:1351471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN BROUSSAIS | ClinVar Annotator: match by term: HEMOGLOBIN BUFFALO	PMID:12403494|PMID:15166271
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:305	carcinoma		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351471	D	RGD:9068941	20260226	RGD		mRNA:decreased expression:peripheral blood mononuclear cell	PMID:39480635|REF_RGD_ID:632527148
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:3526	cerebral infarction		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1634355
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:630	genetic disease		ISO	RGD:1351471	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:8432	polycythemia		ISO	RGD:1351471	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN G (PEST)	PMID:2227935|PMID:25818820|PMID:26467025|PMID:26635043|PMID:4550395|PMID:6814490|PMID:893135
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:8997	polycythemia vera		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1634355
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9001201	Methemoglobinemia, Alpha-Globin Type		ISO	RGD:1351471	D	RGD:7240710	20180130	OMIM			
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9001201	Methemoglobinemia, Alpha-Globin Type		ISO	RGD:1351471	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN M (IWATE) | ClinVar Annotator: match by term: Methemoglobinemia, alpha type	PMID:10477710|PMID:12403490|PMID:16370486|PMID:17052927|PMID:17486500|PMID:18310146|PMID:18420733|PMID:19349619|PMID:21950764|PMID:24111644|PMID:25741868|PMID:26467025|PMID:26485748|PMID:27225845|PMID:3026948|PMID:38535125|PMID:3957697|PMID:6998928|PMID:7786798
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9001341	Chloracne		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9002652	Alpha-Thalassemia 2		ISO	RGD:1351471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN EVANSTON | ClinVar Annotator: match by term: THALASSEMIA, ALPHA-PLUS	
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9002953	Escherichia Coli Infections	treatment	ISO	RGD:1351471	D	RGD:9068941	20200609	RGD			PMID:18786935|REF_RGD_ID:10449443
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9005785	Altitude Sickness	susceptibility	ISO	RGD:1351471	D	RGD:9068941	20260221	RGD		mRNA:increased expression:blood	PMID:39944919|REF_RGD_ID:632522755
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734079	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12097955	LOC100855540	hemoglobin subunit alpha-like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16632892
12097967	MIR383	microRNA mir-383	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:2325533	D	RGD:9068941	20200709	RGD			PMID:28469772|REF_RGD_ID:35668865
12097967	MIR383	microRNA mir-383	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1348316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:7240710	20180130	OMIM			
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1349178	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDG IIe | ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe	PMID:16199547|PMID:17576681|PMID:19577670|PMID:19763152|PMID:20307669|PMID:21811164|PMID:22406018|PMID:25741868|PMID:25741869|PMID:28492532|PMID:30653653|PMID:31785789|PMID:9536098
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:1324	lung cancer		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:3275	thymoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:4195	hyperglycemia		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:21811164|PMID:28492532
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349178	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:21811164|PMID:25741868|PMID:28492532|PMID:30653653
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:630	genetic disease	susceptibility	ISO	RGD:1349178	D	RGD:9068941	20200609	RGD		congenital disorder of glycosylation, type IIe, OMIM:608779;DNA:transversion:intron:IVS1+4A>C	PMID:15107842|REF_RGD_ID:1600879
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098034	COG7	component of oligomeric golgi complex 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:303	substance-related disorder		ISO	RGD:1319930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098055	GBA3	glucosylceramidase beta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:736029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15513904
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:10754	otitis media		ISO	RGD:736030	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:1115	sarcoma		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:9005372	Inflammation		ISO	RGD:8770878	D	RGD:9068941	20200609	RGD			PMID:20949060|REF_RGD_ID:11554178
12098075	BPIFA1	BPI fold containing family A member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0050902	medulloblastoma		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0050902	medulloblastoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:1044354|PMID:10449599|PMID:10660329|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11389159|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12097290|PMID:12181777|PMID:12655567|PMID:12698193|PMID:12928470|PMID:12955716|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14973102|PMID:15024741|PMID:15131399|PMID:15235023|PMID:15365993|PMID:15733268|PMID:15766593|PMID:15887246|PMID:15937982|PMID:16030099|PMID:16047344|PMID:16115142|PMID:16162645|PMID:16170354|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16912212|PMID:16949048|PMID:17100994|PMID:17148771|PMID:17636422|PMID:17661168|PMID:17688236|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18284688|PMID:18489799|PMID:18627636|PMID:18694767|PMID:18703817|PMID:19241424|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20301425|PMID:20730485|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22072316|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23096355|PMID:23479189|PMID:23569316|PMID:23929434|PMID:24033266|PMID:24145998|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25395318|PMID:25428789|PMID:25628955|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:27149842|PMID:27433846|PMID:27836010|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29161300|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29915322|PMID:29922827|PMID:30068706|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30877237|PMID:30972954|PMID:30982232|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31794323|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32019277|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32510664|PMID:32522261|PMID:32658311|PMID:32817299|PMID:32832836|PMID:32980867|PMID:33193653|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34598035|PMID:34645131|PMID:34741701|PMID:35402282|PMID:35451682|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0050902	medulloblastoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:6683254|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0060074	ductal carcinoma in situ	onset	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :5972C>T	PMID:16280055|REF_RGD_ID:2289048
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0060074	ductal carcinoma in situ	treatment	ISO	RGD:2219	D	RGD:9068941	20210611	RGD			PMID:25861310|REF_RGD_ID:127284854
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0060260	ptosis		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0060873	isolated growth hormone deficiency type IA		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primordial Dwarfism	PMID:24389050
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:10359546|PMID:11179017|PMID:11897832|PMID:12097290|PMID:12569143|PMID:16199546|PMID:16826315|PMID:17063271|PMID:17148771|PMID:18176857|PMID:20104584|PMID:20301425|PMID:21324516|PMID:22711857|PMID:22762150|PMID:24013928|PMID:24033266|PMID:24728189|PMID:24916970|PMID:25186627|PMID:25632310|PMID:25741868|PMID:26287763|PMID:26467025|PMID:2684510|PMID:26845104|PMID:27356891|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29470806|PMID:29884136|PMID:29907814|PMID:30159786|PMID:30606148|PMID:31263054|PMID:32427313|PMID:32438681|PMID:32868316|PMID:33471991|PMID:33606809|PMID:34657373|PMID:35534704|PMID:35535697|PMID:36853301|PMID:37536918|PMID:38922859
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:736254	D	RGD:9068941	20210521	RGD			PMID:11497291|REF_RGD_ID:126925969
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0080600	COVID-19		ISO	RGD:736254	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0080705	medulloblastoma SHH activated and TP53 wild-type		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 wild-type	PMID:25741868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0080829	low grade glioma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Low grade glioma	PMID:20589654|PMID:23096105|PMID:25741868|PMID:28492532|PMID:31911673|PMID:32438681|PMID:33471991
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:15131399|PMID:16683254|PMID:17026620|PMID:17997147|PMID:18593900|PMID:18607349|PMID:20104584|PMID:20301425|PMID:22711857|PMID:24549055|PMID:25479140|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26183948|PMID:26467025|PMID:26633542|PMID:27276934|PMID:27352968|PMID:28492532|PMID:28637432|PMID:28724667|PMID:28888541|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29446198|PMID:29753700|PMID:29875428|PMID:29907814|PMID:29922827|PMID:29997359|PMID:30441849|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30865812|PMID:31409081|PMID:31658756|PMID:31753525|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32853339|PMID:32939053|PMID:33293522|PMID:33753322|PMID:33804961|PMID:35022142|PMID:35260348|PMID:35438911|PMID:36721989|PMID:36732629|PMID:39142283|PMID:39488595
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0111089	Fanconi anemia complementation group D1		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0111089	Fanconi anemia complementation group D1		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | ClinVar Annotator: match by term: Fanconi anemia complementation group D1	PMID:1044354|PMID:10449599|PMID:10453741|PMID:10551859|PMID:10717622|PMID:10874312|PMID:10882858|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11185744|PMID:11241844|PMID:11389159|PMID:11447276|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11873550|PMID:11897832|PMID:11927503|PMID:11950811|PMID:12065746|PMID:12097290|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12655567|PMID:12698193|PMID:12750298|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14670928|PMID:14973102|PMID:15004464|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15172753|PMID:15235023|PMID:15365993|PMID:15635067|PMID:15645491|PMID:15766593|PMID:15887246|PMID:15937982|PMID:15983021|PMID:16030099|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16284991|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16826315|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17026620|PMID:17100994|PMID:17148771|PMID:17257844|PMID:17515903|PMID:17576681|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18284688|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18703817|PMID:18724707|PMID:18824701|PMID:18951449|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19320659|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19747923|PMID:19818148|PMID:20033483|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20301425|PMID:20380699|PMID:20614180|PMID:20694749|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21965345|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22109874|PMID:22217648|PMID:22366370|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22632462|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22720145|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22874498|PMID:22921157|PMID:22962691|PMID:22970155|PMID:23035815|PMID:23071527|PMID:23108138|PMID:23231788|PMID:23479189|PMID:23531862|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23884708|PMID:23893897|PMID:23929434|PMID:23983145|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24156927|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24448499|PMID:24504028|PMID:24549055|PMID:24578186|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25103822|PMID:25146914|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25628955|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25801821|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26155992|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26740091|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26852015|PMID:26920070|PMID:27062684|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27376475|PMID:27393621|PMID:27433846|PMID:27516001|PMID:27633797|PMID:27836010|PMID:27878467|PMID:28008555|PMID:28049253|PMID:28111427|PMID:28127413|PMID:28152038|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28651617|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28726806
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0111089	Fanconi anemia complementation group D1		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 | ClinVar Annotator: match by term: Fanconi anemia complementation group D1	PMID:28783718|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29021639|PMID:29061375|PMID:29161300|PMID:29176636|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29684080|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29881398|PMID:29884841|PMID:29915322|PMID:29922827|PMID:29988080|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30207912|PMID:30212499|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30415210|PMID:30555256|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32019277|PMID:32046981|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32832836|PMID:32980867|PMID:33087929|PMID:33193653|PMID:33293522|PMID:33314489|PMID:33471991|PMID:33526602|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33850299|PMID:33964450|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34413315|PMID:34598035|PMID:34645131|PMID:34741701|PMID:34749799|PMID:35264596|PMID:35402282|PMID:35451682|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36721989|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37460658|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:37951914|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:38922859|PMID:39194688|PMID:39438962|PMID:39733403|PMID:39779848|PMID:39779857|PMID:40249378|PMID:40413188|PMID:4055113|PMID:6683254|PMID:7924331|PMID:8840963|PMID:8988179|PMID:9042907|PMID:9150152|PMID:9536098|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:0111685	hereditary mixed polyposis syndrome 1		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1	PMID:25741868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21218378|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:35382848
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10283	prostate cancer		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10283	prostate cancer		ISO	RGD:736254	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33891299|PMID:33918338|PMID:34008015|PMID:34399810|PMID:34445631|PMID:34567246|PMID:34917121|PMID:35472165|PMID:35535697|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10283	prostate cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:10874312|PMID:11802209|PMID:11857749|PMID:11927503|PMID:12065746|PMID:12181777|PMID:12928470|PMID:14555511|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15131399|PMID:15146557|PMID:15235023|PMID:15365993|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16455195|PMID:16683254|PMID:16792514|PMID:16912212|PMID:16931905|PMID:16949048|PMID:17100994|PMID:17453335|PMID:17576681|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:18284688|PMID:18451181|PMID:18489799|PMID:18627636|PMID:18703817|PMID:18951446|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19656164|PMID:20104584|PMID:20135345|PMID:20215541|PMID:20301425|PMID:20858050|PMID:20960228|PMID:21120943|PMID:21305653|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21548016|PMID:21559243|PMID:21673748|PMID:21719596|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22217648|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22486713|PMID:22505045|PMID:22762150|PMID:22798144|PMID:22970155|PMID:24033266|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24728189|PMID:24916970|PMID:25007954|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25395318|PMID:25556971|PMID:25628955|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25741869|PMID:25863477|PMID:26187060|PMID:26295337|PMID:26306726|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26681312|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:26968956|PMID:27124784|PMID:27149842|PMID:27433846|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28492532|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29161300|PMID:29446198|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29922827|PMID:30078507|PMID:30192042|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30825404|PMID:30982232|PMID:31131967|PMID:31263054|PMID:31264438|PMID:31336956|PMID:31409081|PMID:31528241|PMID:31742824|PMID:31782247|PMID:31853058|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32073954|PMID:32318955|PMID:32341426|PMID:32510664|PMID:32522261|PMID:32854451|PMID:33193653|PMID:33471991|PMID:33609447|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34196900|PMID:34413315|PMID:34452747|PMID:34645131|PMID:35101336|PMID:35753294|PMID:35864222|PMID:35875314|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36451132|PMID:36977404|PMID:37216690|PMID:37415649|PMID:38069422|PMID:38160042|PMID:38520597|PMID:39438962|PMID:40249378|PMID:40413188|PMID:9150172|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:18182994|REF_RGD_ID:2289042
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:11149425|PMID:11389159|PMID:11595708|PMID:11802209|PMID:12203997|PMID:12442265|PMID:15131399|PMID:16912212|PMID:17851763|PMID:18824701|PMID:19016756|PMID:20104584|PMID:21318380|PMID:22632462|PMID:22703879|PMID:22798144|PMID:23035815|PMID:23683081|PMID:23704984|PMID:2377269|PMID:24033266|PMID:24156927|PMID:24549055|PMID:25525159|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26187060|PMID:26467025|PMID:27062684|PMID:27153395|PMID:27732944|PMID:28008555|PMID:28205045|PMID:28294317|PMID:28492532|PMID:29176636|PMID:29348823|PMID:29360161|PMID:29439820|PMID:29446198|PMID:29907814|PMID:30287823|PMID:30350268|PMID:30702160|PMID:31214711|PMID:31454914|PMID:31497750|PMID:31853058|PMID:32338768|PMID:32365798|PMID:32438681|PMID:32710294|PMID:32939053|PMID:32980694|PMID:33471991|PMID:34645131|PMID:35731312|PMID:35741847|PMID:36243179|PMID:36988593|PMID:38922859
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:10907	microcephaly		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11802209|PMID:12928470|PMID:15131399|PMID:16683254|PMID:19340607|PMID:20104584|PMID:20301425|PMID:24504028|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26586665|PMID:27433846|PMID:28324225|PMID:28492532|PMID:29446198|PMID:29625052|PMID:29922827|PMID:30702160|PMID:32073954|PMID:33471991|PMID:36149077|PMID:36451132
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder | ClinVar Annotator: match by term: Urinary bladder cancer	PMID:11056688|PMID:11802209|PMID:11897832|PMID:12601471|PMID:12673801|PMID:12938098|PMID:16030099|PMID:16140926|PMID:16211554|PMID:16528604|PMID:17011978|PMID:17319787|PMID:17351952|PMID:17576681|PMID:17761984|PMID:17924331|PMID:18097605|PMID:18424508|PMID:18489799|PMID:18593900|PMID:18607349|PMID:19043619|PMID:19200354|PMID:19353265|PMID:19491284|PMID:19563646|PMID:19620486|PMID:20104584|PMID:21063910|PMID:21120943|PMID:21769658|PMID:21939546|PMID:21990134|PMID:22366370|PMID:22505045|PMID:22678057|PMID:22711857|PMID:22762150|PMID:22923021|PMID:22970155|PMID:23035815|PMID:23192360|PMID:23199084|PMID:23469205|PMID:23531862|PMID:23633455|PMID:23983145|PMID:24010542|PMID:24033266|PMID:24212087|PMID:24323938|PMID:24333842|PMID:24549055|PMID:24884479|PMID:25066507|PMID:25146914|PMID:25371446|PMID:25525159|PMID:25628955|PMID:25652403|PMID:25741868|PMID:25786579|PMID:26014432|PMID:26207792|PMID:26295337|PMID:26467025|PMID:26564481|PMID:26577449|PMID:26681312|PMID:26681682|PMID:2673801|PMID:27060066|PMID:27257965|PMID:27616075|PMID:27767231|PMID:28185119|PMID:28283652|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28888541|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29707112|PMID:29774201|PMID:29907814|PMID:29988080|PMID:30101128|PMID:30287823|PMID:30623411|PMID:31131967|PMID:31209999|PMID:31214711|PMID:31512090|PMID:32058061|PMID:32295079|PMID:32438681|PMID:32599251|PMID:32623391|PMID:32658311|PMID:32806537|PMID:32846166|PMID:33471991|PMID:33643918|PMID:33804961|PMID:34377931|PMID:34597585|PMID:35220195|PMID:35264596|PMID:35464868|PMID:35979650|PMID:36988593|PMID:8673091|PMID:8896551|PMID:8988179|PMID:9150172|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:17924331|PMID:18607349|PMID:19043619|PMID:19200354|PMID:19563646|PMID:20104584|PMID:21990134|PMID:22678057|PMID:22762150|PMID:23531862|PMID:23983145|PMID:24010542|PMID:24323938|PMID:25146914|PMID:25525159|PMID:25652403|PMID:25741868|PMID:26467025|PMID:26577449|PMID:27616075|PMID:27767231|PMID:28185119|PMID:28283652|PMID:28492532|PMID:28664506|PMID:28724667|PMID:29446198|PMID:29988080|PMID:30287823|PMID:33471991|PMID:33643918|PMID:8673091
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1107	esophageal carcinoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma	PMID:17972177|PMID:18431501|PMID:18627636|PMID:18779604|PMID:21120943|PMID:21218378|PMID:21523855|PMID:22126563|PMID:22293751|PMID:22486713|PMID:23555315|PMID:24055113|PMID:24728327|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26689913|PMID:28222693|PMID:28492532|PMID:30702160|PMID:31131967|PMID:32467295|PMID:33471991|PMID:35464868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:11162	respiratory failure		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26467025|PMID:26543556|PMID:27433846|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:31892343|PMID:33471991|PMID:35451682|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1148	polydactyly		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:20104584|PMID:25236687|PMID:25741868|PMID:26467025|PMID:28281021|PMID:28492532|PMID:29446198|PMID:30630528|PMID:34196900|PMID:38520597
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:11830	myopia		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10882858|PMID:21741379|PMID:21952622|PMID:22711857|PMID:25085752|PMID:25266736|PMID:25348012|PMID:25741868|PMID:26467025|PMID:27149842|PMID:27633797|PMID:28492532|PMID:29641532|PMID:30287823|PMID:30374176|PMID:30883245|PMID:31158355|PMID:31853058|PMID:31911673|PMID:33471991|PMID:34749799|PMID:36243179|PMID:37922907|PMID:39733403|PMID:40249378
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:11994	atrophy of testis		ISO	RGD:2219	D	RGD:9068941	20210219	RGD			PMID:12754522|REF_RGD_ID:727990
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:10882858|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:36329109|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1324	lung cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10551859|PMID:11447276|PMID:11802209|PMID:11873550|PMID:12442171|PMID:12491499|PMID:15983021|PMID:16030099|PMID:16284991|PMID:16683254|PMID:17924331|PMID:18006916|PMID:18284688|PMID:18418466|PMID:18951449|PMID:19471317|PMID:19747923|PMID:19818148|PMID:20104584|PMID:20694749|PMID:20927582|PMID:21120943|PMID:21520273|PMID:21990134|PMID:22811390|PMID:23071527|PMID:23231788|PMID:23555315|PMID:24033266|PMID:24055113|PMID:24323938|PMID:24578186|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26187060|PMID:26221963|PMID:26467025|PMID:28492532|PMID:28993434|PMID:29752822|PMID:4055113|PMID:7924331
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:13636	Fanconi anemia		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11030417|PMID:11185744|PMID:12491487|PMID:12955716|PMID:12960223|PMID:14670928|PMID:15026808|PMID:15070707|PMID:15635067|PMID:15645491|PMID:15876480|PMID:16825431|PMID:17924331|PMID:17972177|PMID:18284688|PMID:18431501|PMID:18627636|PMID:18779604|PMID:19043619|PMID:20104584|PMID:20127978|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21523855|PMID:21548014|PMID:21702907|PMID:21719596|PMID:21990134|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22228431|PMID:22293751|PMID:22486713|PMID:22874498|PMID:23555315|PMID:23704879|PMID:23893897|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:26295337|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27376475|PMID:28222693|PMID:28492532|PMID:28831036|PMID:29310832|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29753700|PMID:29884841|PMID:30254663|PMID:31131967|PMID:31911673|PMID:32398771|PMID:33273034|PMID:33471991|PMID:35464868|PMID:35736817|PMID:36329109
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:13636	Fanconi anemia		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fanconi's anemia	PMID:11185744|PMID:12960223|PMID:15070707|PMID:15645491|PMID:16825431|PMID:17576681|PMID:19620486|PMID:20927582|PMID:21548014|PMID:21719596|PMID:22009639|PMID:23893897|PMID:24033266|PMID:25085752|PMID:25525159|PMID:25682074|PMID:25741868|PMID:26296701|PMID:26467025|PMID:26689913|PMID:26834852|PMID:26920070|PMID:27878467|PMID:28492532|PMID:28831036|PMID:29446198|PMID:29625052|PMID:29753700|PMID:31090900|PMID:31131967|PMID:31853058|PMID:32398771|PMID:32641407|PMID:32719484|PMID:33087929|PMID:33471991|PMID:36451132|PMID:36721989|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:13636	Fanconi anemia	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:12065746|REF_RGD_ID:734658
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1380	endometrial cancer		ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:deletion, frameshift mutation	PMID:10451700|REF_RGD_ID:2296027
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: tumor	PMID:14647210|PMID:15004464|PMID:15070707|PMID:15695382|PMID:16199547|PMID:16683254|PMID:16793542|PMID:16825431|PMID:17026620|PMID:18182601|PMID:18593900|PMID:18607349|PMID:19369211|PMID:20104584|PMID:20301425|PMID:21203900|PMID:21548014|PMID:21769658|PMID:22678057|PMID:22711857|PMID:22762150|PMID:24156927|PMID:24302565|PMID:24549055|PMID:25085752|PMID:25330149|PMID:25479140|PMID:25639900|PMID:25741868|PMID:25863477|PMID:26183948|PMID:26467025|PMID:26633542|PMID:26824983|PMID:26913838|PMID:27276934|PMID:27352968|PMID:27393621|PMID:28324225|PMID:28492532|PMID:28637432|PMID:28807866|PMID:28888541|PMID:29084914|PMID:29161300|PMID:29339979|PMID:29446198|PMID:29478780|PMID:29753700|PMID:29875428|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30630528|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30865812|PMID:31131967|PMID:31658756|PMID:31753525|PMID:31911673|PMID:32393813|PMID:32482800|PMID:32719484|PMID:32853339|PMID:32939053|PMID:33293522|PMID:33609447|PMID:33753322|PMID:33804961|PMID:35022142|PMID:35101336|PMID:35260348|PMID:35438911|PMID:36329109|PMID:36721989|PMID:36732629|PMID:37149759|PMID:39142283|PMID:39488595|PMID:9760198
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1520	colon carcinoma		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1596	depressive disorder		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Depression	PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26467025|PMID:26543556|PMID:27433846|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:31892343|PMID:33471991|PMID:35451682|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18097605|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31954625|PMID:31957001|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32380732|PMID:32393813|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32885271|PMID:32918181|PMID:32939053|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34242281|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30982232|PMID:30995915|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31191615|PMID:31209999|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31742824|PMID:31753525|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32098980|PMID:32114502|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33558524
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34503154|PMID:35464868|PMID:35535697|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12815053|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23593120|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24771903|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25802882|PMID:25838448|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25919761|PMID:25925381|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26264438|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27632928|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28377418|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28502252|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29136510|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30472649|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30672594|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31069257|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31161121|PMID:31173646|PMID:31174203|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32002120|PMID:32039725|PMID:32059136|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32206145|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:33054725|PMID:33067490|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33868589|PMID:33875706|PMID:33978741|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34242281|PMID:34309133|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35263119|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35039564|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36367610|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33609447|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34242281|PMID:34309133|PMID:34399810|PMID:34503154|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34717758|PMID:35039564|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35438911|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:36329109|PMID:36367610|PMID:36988593|PMID:6295337|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34309133|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34503154|PMID:34541275|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657373|PMID:34680878|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35736817|PMID:35753294|PMID:35918668|PMID:35979650|PMID:36243179|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36988593|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425|PMID:20373018|PMID:20380699
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34503154|PMID:34541275|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35547873|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37922907|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31454914|PMID:3146935|PMID:31528241|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34503154|PMID:34541275|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36775216|PMID:36977404|PMID:36988593|PMID:37922907|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025|PMID:26483394
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36623239|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37922907|PMID:38003901|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36623239|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37922907|PMID:38003901|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36623239|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37922907|PMID:38003901|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36623239|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38355628|PMID:38417439|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36623239|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37306523|PMID:37335020|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38355628|PMID:38417439|PMID:38922859|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25326637|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28915716|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32522261|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34906479|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35411189|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36623239|PMID:36721989|PMID:36775216|PMID:36853301|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37306523|PMID:37335020|PMID:37415649|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38355628|PMID:38417439|PMID:38922859|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018|PMID:20301425
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428|PMID:26467025|PMID:26483394
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31484976|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32522261|PMID:32531196|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34026625|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34820595|PMID:34906479|PMID:35022142|PMID:35039564|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35417938|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35694415|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35864222|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36551643|PMID:36623239|PMID:36627197|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36853301|PMID:36881271|PMID:36964191|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37306523|PMID:37335020|PMID:37415649|PMID:37664050|PMID:37731132|PMID:37922907|PMID:38003901
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:38136276|PMID:38355628|PMID:38566764|PMID:38641594|PMID:38922859|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25326637|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26455428
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31484976|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32522261|PMID:32531196|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34026625|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34820595|PMID:34906479|PMID:35022142|PMID:35039564|PMID:35171259|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35417938|PMID:35438911|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35694415|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35864222|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36551643|PMID:36623239|PMID:36627197|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36853301|PMID:36881271|PMID:36964191|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37306523|PMID:37335020|PMID:37415649|PMID:37664050
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:37731132|PMID:37922907|PMID:38003901|PMID:38136276|PMID:38355628|PMID:38417439|PMID:38566764|PMID:38641594|PMID:38922859|PMID:668580|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10359546|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10486320|PMID:10506595|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11102977|PMID:11106360|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11304778|PMID:11307153|PMID:11389159|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11897832|PMID:11920621|PMID:11929857|PMID:11938448|PMID:11972384|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12414830|PMID:12442274|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655567|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12920083|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520696|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16644204|PMID:16683254|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17026620|PMID:17063270|PMID:17087817|PMID:17100994|PMID:17148771|PMID:17233897|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17515903|PMID:17574839|PMID:17576681|PMID:17592676|PMID:17636422|PMID:17657584|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17826769|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18176857|PMID:18182994|PMID:18256760|PMID:18284688|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18855126|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19795481|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20201734|PMID:20215541|PMID:20223018
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20513136|PMID:20587410|PMID:20608899|PMID:20625817|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21156238|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22608084|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23056405|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23754601|PMID:23767878|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24132290|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24737347|PMID:24764757|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24963051|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25249249|PMID:25256924|PMID:25266736|PMID:25326637|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25428384|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25741868|PMID:25741869|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25864590|PMID:25877891|PMID:25884701|PMID:25925381|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26402875|PMID:26425718
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26455428|PMID:26467025|PMID:26483394|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26913838|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26997744|PMID:27003155|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27083775|PMID:27124784|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27194814|PMID:27208206|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27352968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27535533|PMID:27553368|PMID:27561088|PMID:27616075|PMID:27621404|PMID:27658390|PMID:27701467|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28277317|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28435519|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28528518|PMID:28541631|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28758972|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28794409|PMID:28807866|PMID:28814288|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28918466|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29126202|PMID:29146900|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29262651|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29802286|PMID:29854292|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29906251|PMID:29907814|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30212499|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30696104|PMID:30702160
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30706003|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30825404|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:30995915|PMID:31060593|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31454914|PMID:31467961|PMID:3146935|PMID:31484976|PMID:31528241|PMID:31567591|PMID:31589614|PMID:31658756|PMID:31666926|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32002120|PMID:32029870|PMID:32039725|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32132887|PMID:32164353|PMID:32206145|PMID:32211327|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32522261|PMID:32531196|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32614418|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32906206|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33011440|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33230308|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33461977|PMID:33468216|PMID:33469799|PMID:33471991|PMID:33478551|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33753322|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33891299|PMID:33964450|PMID:33970096|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34026625|PMID:34072659|PMID:34097676|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34296289|PMID:34298626|PMID:34309133|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34452747|PMID:34500047|PMID:34503154|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34700141|PMID:34717758|PMID:34820595|PMID:34906479|PMID:35022142|PMID:35039564|PMID:35171259|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35309086|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35417938|PMID:35438911|PMID:35449021|PMID:35464868|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35694415|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35834759|PMID:35864222|PMID:35918668|PMID:35949895|PMID:35979650|PMID:35980532|PMID:36119527|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36359225|PMID:36367610|PMID:36451132|PMID:36474027|PMID:36551643|PMID:36623239|PMID:36627197|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36853301|PMID:36881271|PMID:36964191
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:36977404|PMID:36988593|PMID:36999648|PMID:37306523|PMID:37335020|PMID:37415649|PMID:37664050|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38136276|PMID:38308423|PMID:38355628|PMID:38417439|PMID:38566028|PMID:38566764|PMID:38641594|PMID:38922859|PMID:39779857|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8705994|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9145678|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9192668|PMID:9429140|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9667259|PMID:9761393|PMID:9792861|PMID:9836472|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10417300|PMID:10453741|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10874312|PMID:10923033|PMID:11030417|PMID:11102977|PMID:11102978|PMID:11139248|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11466700|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11857749|PMID:11896095|PMID:11938448|PMID:11950811|PMID:12065746|PMID:12181777|PMID:12402332|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12618335|PMID:12624724|PMID:12750298|PMID:12955716|PMID:12960223|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14684619|PMID:14973102|PMID:15010701|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15168169|PMID:15254695|PMID:15340362|PMID:15645491|PMID:15695382|PMID:15733268|PMID:15876480|PMID:15937982|PMID:15944772|PMID:15994883|PMID:16047344|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16541310|PMID:16683254|PMID:16758124|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16912212|PMID:17301269|PMID:17576681|PMID:17591843|PMID:17592676|PMID:17688236|PMID:17899372|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18284688|PMID:18363094|PMID:18403564|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627637|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19912264|PMID:20041885|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20383589|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21394826|PMID:21465317|PMID:21520273|PMID:21548014|PMID:21559243|PMID:21614564|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22194698|PMID:22366370|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22632462|PMID:22678057|PMID:22703879|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22866093|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096355|PMID:23108138|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23469205|PMID:23479189|PMID:23555315|PMID:23569316|PMID:23633455|PMID:23658460|PMID:23704879|PMID:23884708|PMID:23893897|PMID:23929434|PMID:23942203|PMID:23966579|PMID:23977390|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24145998|PMID:24156927|PMID:24249303|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24504028|PMID:24578176|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24737347|PMID:24817641|PMID:24884479|PMID:25007954|PMID:25072261|PMID:25085752|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25256924|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25447315|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25741868|PMID:25741869|PMID:25782689|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26137147|PMID:26187060|PMID:26219728|PMID:26283626|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26586665|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26724258|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26843898
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26920070|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27223485|PMID:27257965|PMID:27425403|PMID:27553291|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27724927|PMID:27741520|PMID:27798748|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28135145|PMID:28222693|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28591715|PMID:28632866|PMID:28651617|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28782087|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28947987|PMID:28985766|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29202657|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29360161|PMID:29368341|PMID:29394989|PMID:29409476|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30186769|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30410870|PMID:30415210|PMID:30489631|PMID:30606148|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30661751|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31263054|PMID:31336956|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31454914|PMID:31492746|PMID:31528241|PMID:31569370|PMID:31589614|PMID:31723001|PMID:31742824|PMID:31786208|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32022259|PMID:32029870|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32566972|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32872764|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33011440|PMID:33067490|PMID:33077847|PMID:33087929|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33403015|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33646313|PMID:33758026|PMID:33804961|PMID:33939675|PMID:33964450|PMID:34072659|PMID:34100114|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34452747|PMID:34597585|PMID:34637943|PMID:34687993|PMID:35205313|PMID:35205366|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35411189|PMID:35417938|PMID:35534704|PMID:35665744|PMID:35710434|PMID:35736817|PMID:35740625|PMID:35918668|PMID:35979650|PMID:36119527|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36721989|PMID:36775216|PMID:36845387|PMID:36881271|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37306523|PMID:37335020|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37731132|PMID:37922907|PMID:38153744|PMID:38355628|PMID:38417439|PMID:39001544|PMID:39080120|PMID:39702187|PMID:39779848|PMID:39779857|PMID:40531958|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:9012404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9758598|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10449599|PMID:10453741|PMID:10550133|PMID:10638982|PMID:10660329|PMID:10699917|PMID:10874312|PMID:10923033|PMID:11030417|PMID:11102978|PMID:11139248|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11857749|PMID:11938448|PMID:11950811|PMID:12065746|PMID:12181777|PMID:12228710|PMID:12237285|PMID:12402332|PMID:12442274|PMID:12491487|PMID:12618335|PMID:12624724|PMID:12750298|PMID:12928470|PMID:12955716|PMID:12960223|PMID:14555518|PMID:14559878|PMID:14647210|PMID:14684619|PMID:14973102|PMID:15010701|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15168169|PMID:15254695|PMID:15340362|PMID:15645491|PMID:15733268|PMID:15876480|PMID:15937982|PMID:16047344|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16234499|PMID:16489001|PMID:16541310|PMID:16683254|PMID:16758124|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16912212|PMID:17233897|PMID:17301269|PMID:17576681|PMID:17688236|PMID:17899372|PMID:17924331|PMID:17971607|PMID:17972171|PMID:18042939|PMID:18284688|PMID:18363094|PMID:18451181|PMID:18489799|PMID:18594331|PMID:18597679|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18951461|PMID:19043619|PMID:19052777|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20041885|PMID:20104584|PMID:20215541|PMID:20301425|PMID:20373018|PMID:20694749|PMID:20730485|PMID:20736950|PMID:2085629|PMID:20858050|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21394826|PMID:21465317|PMID:21520273|PMID:21548014|PMID:21559243|PMID:21614564|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22194698|PMID:22476429|PMID:22505045|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22848303|PMID:22866093|PMID:22895246|PMID:22970155|PMID:23096355|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23249957|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23348723|PMID:23469205|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23893897|PMID:23929434|PMID:23942203|PMID:23977390|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24145998|PMID:24156927|PMID:24249303|PMID:24285729|PMID:24323938|PMID:24333842|PMID:24489791|PMID:24504028|PMID:24578176|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24817641|PMID:24884479|PMID:25007954|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25225064|PMID:25266736|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25447315|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25741868|PMID:25741869|PMID:25782689|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25940717|PMID:25964535|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26026974|PMID:26137147|PMID:26187060|PMID:26219728|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26467025|PMID:26483394|PMID:26541979|PMID:26552643|PMID:26564481|PMID:26566862|PMID:26586665|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26757417|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26920070|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27223485|PMID:27257965|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27553291|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27724927|PMID:27741520|PMID:27914478|PMID:28111427|PMID:28135145|PMID:28176296|PMID:28222693|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:28339459|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28591715|PMID:28651617|PMID:28657667|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28782087|PMID:28831036|PMID:28888541|PMID:28947987|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29164420|PMID:29202657|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29395620|PMID:29409476|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29797126|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:30039884|PMID:30093976|PMID:30128899|PMID:30130155|PMID:30199306|PMID:30254663|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30410870|PMID:30415210|PMID:30588330|PMID:30606148|PMID:30630528|PMID:30661751|PMID:30702160|PMID:30713775|PMID:30720243|PMID:30787465|PMID:30875412|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31174498|PMID:31191615|PMID:31263054|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31446535|PMID:31447099|PMID:31492746|PMID:31528241|PMID:31723001|PMID:31742824|PMID:31786208|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32022259|PMID:32029870|PMID:32072338|PMID:32073954|PMID:32101877|PMID:32114502|PMID:32190957|PMID:32211327|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32365798|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32566972|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32641407|PMID:32658311|PMID:32719484|PMID:32778078|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32856869|PMID:32872764|PMID:32885271|PMID:32980694|PMID:32994724|PMID:33008098|PMID:33011440|PMID:33067490|PMID:33087929|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33403015|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33646313|PMID:33758026|PMID:33850850|PMID:33939675|PMID:33964450|PMID:34072659|PMID:34100114|PMID:34235180|PMID:34271781|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34452747|PMID:34597585|PMID:34637943|PMID:34687993|PMID:34717758|PMID:35205313|PMID:35205366|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35411189|PMID:35417938|PMID:35449021|PMID:35534704|PMID:35665744|PMID:35736817|PMID:35740625|PMID:35861108|PMID:35864222|PMID:35918668|PMID:35979650|PMID:36119527|PMID:36149077|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36721989|PMID:36775216|PMID:36845387|PMID:36881271|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37306523|PMID:37335020|PMID:37415649|PMID:37563628|PMID:37731132|PMID:37922907|PMID:37937776|PMID:38153744|PMID:38324470|PMID:38355628|PMID:38417439|PMID:38630906|PMID:39001544|PMID:39029294|PMID:39080120|PMID:39142283|PMID:39779848|PMID:39779857|PMID:40249378|PMID:40531958|PMID:8840963|PMID:9150172|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10417300|PMID:10449599|PMID:10453741|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10800284|PMID:10874312|PMID:10923033|PMID:11030417|PMID:11044354|PMID:11102978|PMID:11139248|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11857748|PMID:11857749|PMID:11896095|PMID:11938448|PMID:11950811|PMID:12065746|PMID:12181777|PMID:12228710|PMID:12402332|PMID:12442274|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12618335|PMID:12624724|PMID:12673801|PMID:12750298|PMID:12845657|PMID:12928470|PMID:12942367|PMID:12955716|PMID:12960223|PMID:12967658|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14684619|PMID:14973102|PMID:15010701|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15168169|PMID:15254695|PMID:15317758|PMID:15340362|PMID:15516848|PMID:15645491|PMID:15695382|PMID:15733268|PMID:15744044|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15994883|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16162645|PMID:16168118|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16234499|PMID:16489001|PMID:16541310|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17026620|PMID:17063271|PMID:17100994|PMID:17301269|PMID:17341484|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17899372|PMID:17924331|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18284688|PMID:18363094|PMID:18431501|PMID:18451181|PMID:18489799|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18694767|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18824701|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19320659|PMID:19340607|PMID:19353265|PMID:19383375|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19875419|PMID:19912264|PMID:20041885|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20652400|PMID:20694749|PMID:20730485|PMID:20736950|PMID:2085629|PMID:20858050|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21156238|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21520273|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21913181|PMID:21939546|PMID:21947752|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22194698|PMID:22293751|PMID:22430266|PMID:22430443|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22632462|PMID:22678057|PMID:22703879|PMID:22711857|PMID:22720145|PMID:22729890|PMID:22762150|PMID:22771033|PMID:22798144|PMID:22866093|PMID:22874498|PMID:22921157|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096355|PMID:23108138|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:234495|PMID:23469205|PMID:23531862|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23704879|PMID:23884708|PMID:23893897|PMID:23929434|PMID:23942203|PMID:23977390|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24145998|PMID:24156927|PMID:24285729|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24578176|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24817641|PMID:24884479|PMID:25007954|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25123297|PMID:25142776|PMID:25146914|PMID:25225064|PMID:25266736|PMID:25348012|PMID:25382762|PMID:25395318|PMID:25447315|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25632310|PMID:25637381
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:25639900|PMID:25682074|PMID:25685387|PMID:25741868|PMID:25741869|PMID:25782689|PMID:25863477|PMID:25882375|PMID:25884701|PMID:25927356|PMID:25940717|PMID:25964535|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26219728|PMID:26283626|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26360800|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26541979|PMID:26564481|PMID:26566862|PMID:26586665|PMID:26633542|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26740091|PMID:26757417|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26846091|PMID:26852015|PMID:26867194|PMID:26920070|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27223485|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27303907|PMID:27352968|PMID:27376475|PMID:27393621|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27553291|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27914478|PMID:28008555|PMID:28111427|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28439188|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28591715|PMID:28632866|PMID:28637432|PMID:28651617|PMID:28657667|PMID:28664506|PMID:28673926|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28782087|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28947987|PMID:28985766|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29202657|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29409476|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29566657|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29707112|PMID:29723101|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29797126|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:29997359|PMID:30039884|PMID:30093976|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30199306|PMID:30254663|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30374176|PMID:30410870|PMID:30415210|PMID:30588330|PMID:30606148|PMID:30630528|PMID:30661751|PMID:30702160|PMID:30713775|PMID:30716324|PMID:30720243|PMID:30787465|PMID:30865812|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31174498|PMID:31191615|PMID:31214711|PMID:31263054|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31446535|PMID:31447099|PMID:31492746|PMID:31528241|PMID:31569370|PMID:31658756|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31786208|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32022259|PMID:32029870|PMID:32072338|PMID:32073954|PMID:32101877|PMID:32114502|PMID:32190957|PMID:32211327|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32365798|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32566972|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32778078|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32872764|PMID:32885271|PMID:32939053|PMID:32980694|PMID:32994724|PMID:33008098|PMID:33011440|PMID:33067490|PMID:33087929|PMID:33273034|PMID:33293522|PMID:33309985|PMID:33403015|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33646313|PMID:33753322|PMID:33758026|PMID:33804961|PMID:33939675|PMID:33964450|PMID:34072659|PMID:34100114|PMID:34271781|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34452747|PMID:34541275|PMID:34597585|PMID:34637943|PMID:34645131|PMID:34687993|PMID:35022142|PMID:35205313|PMID:35205366|PMID:35260348|PMID:35263119
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:35264596|PMID:35402282|PMID:35411189|PMID:35417938|PMID:35438911|PMID:35449021|PMID:35464868|PMID:35534704|PMID:35599270|PMID:35665744|PMID:35736817|PMID:35740625|PMID:35741847|PMID:35918668|PMID:35979650|PMID:36119527|PMID:36149077|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36845387|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37306523|PMID:37335020|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37563628|PMID:37731132|PMID:37922907|PMID:38153744|PMID:38308423|PMID:38355628|PMID:38417439|PMID:38630906|PMID:38922859|PMID:39001544|PMID:39029294|PMID:39080120|PMID:39142283|PMID:39488595|PMID:39702187|PMID:39779848|PMID:39779857|PMID:40249378|PMID:40413188|PMID:40531958|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150172|PMID:9536098|PMID:9537232|PMID:9585613|PMID:9758598|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:162	cancer		ISO	RGD:2219	D	RGD:9068941	20210430	RGD			PMID:16964288|REF_RGD_ID:1599505
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1702	ichthyosis vulgaris		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FLG-related disorders	PMID:17688236|PMID:19654294|PMID:20104584|PMID:20858050|PMID:21120943|PMID:21709188|PMID:23569316|PMID:24728189|PMID:25136594|PMID:25525159|PMID:25741868|PMID:26295337|PMID:26467025|PMID:26681312|PMID:28492532|PMID:29446198|PMID:29487695|PMID:30287823|PMID:33087929|PMID:33471991|PMID:40044664|PMID:41412497|PMID:41450439
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29907814
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29681614
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:29752822|PMID:29753700|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33608381|PMID:33646313|PMID:33918338|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:36329109|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10923033|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11595708|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11920643|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12142080|PMID:12373604|PMID:12402332|PMID:12473589|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17591843|PMID:17657584|PMID:17688236|PMID:17899372|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18704680|PMID:18779604|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22874498|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23199084|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26867194|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28918466|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29575201|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31589614|PMID:31666926|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32359129|PMID:32380732|PMID:32426482|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:33077847|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33646313|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34308366|PMID:34399810|PMID:34567246|PMID:34572941|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10399947|PMID:10417300|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11062481|PMID:11149425|PMID:11179017|PMID:11207042|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12215251|PMID:12373604|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12670525|PMID:12845657|PMID:12872265|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17767707|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18627636|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21205087|PMID:21218378|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21720365|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23942203|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25236687|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25980754
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26187060|PMID:26219728|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26867194|PMID:26933808|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28179634|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29321669|PMID:29325860|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31076742|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33842585|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34298626|PMID:34308366|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:34657357|PMID:34657373|PMID:34680878|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35918668|PMID:35949895|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35918668|PMID:35949895|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:38417439|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10399947|PMID:10417300|PMID:10464624|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11896095|PMID:11897832|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12670525|PMID:12872265|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17767707|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19574032|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34298626|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35535697|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35875314|PMID:35918668|PMID:35949895|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36605468|PMID:36721989|PMID:36988593|PMID:37349538|PMID:37461096|PMID:38417439|PMID:38922859|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:34063308|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34906479|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12845657|PMID:12872265|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15944772|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21138478|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990165|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22578220|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22866093|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23265383|PMID:23318356|PMID:23320992|PMID:23341105|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23977390|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24372583|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27194814|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27495310|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29288066|PMID:29308099|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060523|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32947577|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33858029|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:34063308|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34906479|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37731132|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12872265|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15944772|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17767707|PMID:17850627|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23265383|PMID:23318356|PMID:23341105
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27225637|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29240602|PMID:29288066|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:30262796|PMID:30267214|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12872265|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15944772|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18006916|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:23199084|PMID:23231788|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26180923|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27225637|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28087643|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34287479|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34970085|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38417439|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150150
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3	PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11102978|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11857749|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12872265|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15944772|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18006916|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20513136|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21965345|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23265383|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26180923|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27225637|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28087643|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29797126|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32012241|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34287479|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34970085|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36988593|PMID:37216690|PMID:37240284|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37791389|PMID:37916805|PMID:37922907|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38417439|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39779857|PMID:8075631
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11102978|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11857749|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12872265|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15944772|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17657584|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:18006916|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23265383
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:23318356|PMID:23341105|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26145171|PMID:26180923|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27225637|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28087643|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28243543|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28419251|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29797126|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30217213|PMID:30254663
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:30257646|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32012241|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32211327|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34287479|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34970085|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35681111|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36474027|PMID:36605468|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36988593|PMID:37216690|PMID:37240284|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37791389|PMID:37916805|PMID:37922907|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38417439|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39779857|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10570174|PMID:10682686|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11062481|PMID:11179017|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:11948123|PMID:12065746|PMID:12097290|PMID:12181777|PMID:12204006|PMID:12474142|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647413|PMID:14973102|PMID:15131399|PMID:15145354|PMID:15235023|PMID:15290653|PMID:15365993|PMID:15695382|PMID:15744030|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16684319|PMID:16758124|PMID:16760289|PMID:16847550|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17100994|PMID:17403394|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17924331|PMID:17925560|PMID:18284688|PMID:18403564|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18821011|PMID:18951446|PMID:19043619|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19563646|PMID:19656164|PMID:19656415|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20513136|PMID:20736950|PMID:20858050|PMID:21305653|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21720365|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22682623|PMID:22703879|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23108138|PMID:23146383|PMID:23231788|PMID:23348723|PMID:23451180|PMID:23479189|PMID:23569316|PMID:23593081|PMID:23884708|PMID:23929434|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25146914|PMID:25236687|PMID:25256924|PMID:25382762|PMID:25428789|PMID:25451944|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25940717|PMID:26026974|PMID:26046366|PMID:26180923|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:27124784|PMID:27149842|PMID:27257965|PMID:27433846|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27886673|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28222693|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28339459|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28657667|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29088781|PMID:29176636|PMID:29263802|PMID:29308099|PMID:29335924|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29566657|PMID:29625052|PMID:29673794|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29922827|PMID:29988080|PMID:30039884|PMID:30068706|PMID:30078507|PMID:30130155|PMID:30199306|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30472649|PMID:30606148|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31214711|PMID:31264438|PMID:31331294|PMID:31343793|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31569370|PMID:31589614|PMID:31612916|PMID:31642931|PMID:31721781|PMID:31794323|PMID:31825140|PMID:31843900|PMID:31853058
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:31892343|PMID:31911673|PMID:31957001|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32211327|PMID:32256484|PMID:32295079|PMID:32318955|PMID:32354836|PMID:32380732|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32532514|PMID:32658311|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32853339|PMID:32879886|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33773534|PMID:33804961|PMID:33850299|PMID:33978741|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34399810|PMID:34413315|PMID:34572941|PMID:34597585|PMID:34598035|PMID:34741701|PMID:34906479|PMID:35264596|PMID:35353237|PMID:35402282|PMID:35451682|PMID:35535697|PMID:35681111|PMID:35711920|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36329109|PMID:36370215|PMID:36605468|PMID:36785489|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37719058|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40257527|PMID:8589730|PMID:8988179|PMID:9012404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:1044354|PMID:10449599|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11185744|PMID:11389159|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11920643|PMID:11927503|PMID:11948123|PMID:12097257|PMID:12097290|PMID:12181777|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12928470|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15145354|PMID:15235023|PMID:15340362|PMID:15365993|PMID:15645491|PMID:15744030|PMID:15766593|PMID:15887246|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16684319|PMID:16758124|PMID:16825431|PMID:16912212|PMID:16949048|PMID:17100994|PMID:17148771|PMID:17403394|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18284688|PMID:18403564|PMID:18451181|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:19043619|PMID:19200354|PMID:19241424|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19563646|PMID:19620486|PMID:19656164|PMID:19818148|PMID:19949876|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20301425|PMID:20513136|PMID:20858050|PMID:20927582|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22109874|PMID:22126563|PMID:22217648|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23108138|PMID:23231788|PMID:23265383|PMID:23479189|PMID:23569316|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24240112|PMID:24285858|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25072261|PMID:25085752|PMID:25111659|PMID:25146914|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25428789|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25940717|PMID:26026974|PMID:26180923|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26402875|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26659639|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26920070|PMID:27124784|PMID:27149842|PMID:27157322|PMID:27257965|PMID:27433846|PMID:27701467|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27882536|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28814288|PMID:28825143|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29053726|PMID:29061375|PMID:29161300|PMID:29176636|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29487695|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29988080|PMID:30039884|PMID:30068706|PMID:30078507|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30877237|PMID:30972954|PMID:30982232|PMID:31076742|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31589614|PMID:31666926|PMID:31794323|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:31948886|PMID:31957001|PMID:32019277|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32211327|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32532514|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32817299|PMID:32832836|PMID:32853339|PMID:32879886|PMID:32980867|PMID:33087929|PMID:33193653|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34399810|PMID:34413315|PMID:34572941|PMID:34597585|PMID:34598035|PMID:34645131|PMID:34741701|PMID:35218119|PMID:35402282|PMID:35451682|PMID:35464868|PMID:35681111|PMID:35711920|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378|PMID:6683254|PMID:8896551|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:736254	D	RGD:9068941	20260813	RGD		DNA:mutations: :	PMID:22187320|REF_RGD_ID:9068467
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1798	pancreatic endocrine carcinoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroendocrine tumor of pancreas	PMID:15145354|PMID:22762150|PMID:25741868|PMID:29446198|PMID:31911673
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1826	epilepsy		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11897832|PMID:11927503|PMID:14555511|PMID:15131399|PMID:15235023|PMID:17767707|PMID:20104584|PMID:20135345|PMID:22109874|PMID:22682623|PMID:24033266|PMID:24312913|PMID:25741868|PMID:26221963|PMID:26467025|PMID:26556299|PMID:26681312|PMID:28008555|PMID:28492532|PMID:28495237|PMID:28888541|PMID:29263802|PMID:29308099|PMID:29446198|PMID:30068706|PMID:30322717|PMID:31794323|PMID:31853058|PMID:31892343|PMID:32064343|PMID:34413315|PMID:36329109|PMID:8988179
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1909	melanoma		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532|PMID:31911673|PMID:33471991|PMID:35382848
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1909	melanoma	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.N991D(human)	PMID:18024013|REF_RGD_ID:9068469
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:1969	cerebral palsy		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27376475|PMID:28492532|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2030	anxiety disorder		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10882858|PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26467025|PMID:26543556|PMID:27433846|PMID:27633797|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:30883245|PMID:31892343|PMID:31911673|PMID:33471991|PMID:34749799|PMID:35451682|PMID:36370215|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:10644434|PMID:11149425|PMID:11802209|PMID:19016756|PMID:20104584|PMID:22217648|PMID:22798144|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26187060|PMID:26467025|PMID:26541979|PMID:27257965|PMID:27732944|PMID:28492532|PMID:28541631|PMID:29907814|PMID:30792206|PMID:35557031|PMID:36988593|PMID:37791389|PMID:37916805|PMID:38355628|PMID:38409497|PMID:38480854
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12845657|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15944772|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21138478|PMID:21203900|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990165|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:22486713|PMID:22505045|PMID:22535016|PMID:22578220|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22866093|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23318356|PMID:23320992|PMID:23341105|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23977390|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24372583|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26350514|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27194814|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27495310|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29263802|PMID:29288066|PMID:29308099|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060523|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32872764|PMID:32875559|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32947577|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33403015|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33858029|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34906479|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37731132|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:1044354|PMID:10717622|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11044354|PMID:11149425|PMID:11400546|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12097290|PMID:12181777|PMID:12228710|PMID:12655567|PMID:12698193|PMID:12955716|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:15024741|PMID:15131399|PMID:15168169|PMID:15235023|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16905680|PMID:16912212|PMID:17148771|PMID:17661168|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18284688|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18703817|PMID:19016756|PMID:19043619|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20736950|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520333|PMID:21559243|PMID:21638052|PMID:21702907|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22072316|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23096105|PMID:23108138|PMID:23479189|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24556621|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25628955|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:27149842|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27616075|PMID:27741520|PMID:27993330|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29088781|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30068706|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31060523|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31263054|PMID:31264438|PMID:31325073|PMID:31336956|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31742824|PMID:31794323|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32064343|PMID:32068069|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32658311|PMID:32817299|PMID:32832836|PMID:32885271|PMID:32947577|PMID:32980867|PMID:33067490|PMID:33193653|PMID:33293522|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33653301|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34350294|PMID:34413315|PMID:34567246|PMID:34598035|PMID:34645131|PMID:34687993|PMID:34741701|PMID:34970085|PMID:35326540|PMID:35402282|PMID:35451682|PMID:35464868|PMID:35665744|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:35980532|PMID:36232564|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36627197|PMID:36721989|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37310942|PMID:37415649|PMID:37719058|PMID:37842866|PMID:37922907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:38069422|PMID:38153744|PMID:38160042|PMID:38308423|PMID:38520597|PMID:38922859|PMID:39194688|PMID:39402389|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378|PMID:8988179|PMID:9200354
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:1044354|PMID:10449599|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11389159|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12097290|PMID:12181777|PMID:12655567|PMID:12698193|PMID:12928470|PMID:12955716|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14973102|PMID:15024741|PMID:15131399|PMID:15235023|PMID:15365993|PMID:15766593|PMID:15887246|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16912212|PMID:16949048|PMID:17100994|PMID:17148771|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18284688|PMID:18489799|PMID:18627636|PMID:18703817|PMID:19241424|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20301425|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23479189|PMID:23569316|PMID:23929434|PMID:24033266|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25428789|PMID:25628955|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:27149842|PMID:27433846|PMID:27836010|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29161300|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29915322|PMID:29922827|PMID:30068706|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30877237|PMID:30972954|PMID:30982232|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31794323|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32019277|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32510664|PMID:32522261|PMID:32658311|PMID:32817299|PMID:32832836|PMID:32980867|PMID:33193653|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34598035|PMID:34645131|PMID:34741701|PMID:35402282|PMID:35451682|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378|PMID:6683254|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2154	nephroblastoma	susceptibility	ISO	RGD:736254	D	RGD:9068941	20260813	RGD		DNA:deletion, point mutations: :886delGT, 4876G>T, IVS7+2T>G	PMID:15689453|REF_RGD_ID:2289049
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:219	colon cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:11802209|PMID:20104584|PMID:22711857|PMID:23633455|PMID:2377269|PMID:24156927|PMID:25741868|PMID:26467025|PMID:26845104|PMID:28492532|PMID:28678401|PMID:30661751|PMID:31131967|PMID:31853058|PMID:34271781|PMID:35449021|PMID:39779848
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:11179017|PMID:14973102|PMID:15070707|PMID:15145354|PMID:15340362|PMID:16168118|PMID:17899372|PMID:17972171|PMID:18042939|PMID:18779604|PMID:19043619|PMID:19499246|PMID:20104584|PMID:20736950|PMID:21120943|PMID:21218378|PMID:22126563|PMID:24055113|PMID:24156927|PMID:24470074|PMID:24728327|PMID:25348012|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25782689|PMID:25980754|PMID:26221963|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26757417|PMID:27157322|PMID:27257965|PMID:27658390|PMID:27701467|PMID:27741520|PMID:27907908|PMID:28111427|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28294317|PMID:28351343|PMID:28419251|PMID:28492532|PMID:28664449|PMID:28724667|PMID:28993434|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29681614|PMID:29752822|PMID:29907814|PMID:29909963|PMID:29988080|PMID:30078507|PMID:30287823|PMID:30415210|PMID:30702160|PMID:31174498|PMID:31248605|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31957001|PMID:32101877|PMID:32190957|PMID:32318955|PMID:32444794|PMID:32521533|PMID:32879886|PMID:32885271|PMID:32984025|PMID:33078592|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:10227398|PMID:10433620|PMID:10595255|PMID:10615237|PMID:10644434|PMID:10899649|PMID:10923033|PMID:10969800|PMID:11030418|PMID:11056688|PMID:11158174|PMID:11359068|PMID:11389159|PMID:11597388|PMID:11710835|PMID:11802209|PMID:12065746|PMID:12698193|PMID:12920083|PMID:12955716|PMID:14647438|PMID:14973102|PMID:15024741|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15635067|PMID:15728167|PMID:16140926|PMID:16455195|PMID:16644204|PMID:16683254|PMID:16912212|PMID:17624602|PMID:17850627|PMID:17922257|PMID:17924331|PMID:18182994|PMID:18446624|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18779604|PMID:18844490|PMID:18955455|PMID:19043619|PMID:19241424|PMID:19491284|PMID:19656164|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20301425|PMID:20736950|PMID:20858050|PMID:20859677|PMID:21318380|PMID:21324516|PMID:21598239|PMID:21638052|PMID:21671020|PMID:21702907|PMID:21895635|PMID:21952622|PMID:21965345|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22126563|PMID:22144684|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22711857|PMID:22762150|PMID:22798144|PMID:22921157|PMID:22970155|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23683081|PMID:23884708|PMID:23929434|PMID:23983145|PMID:24013928|PMID:24033266|PMID:24094589|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24549055|PMID:24728189|PMID:24728327|PMID:24764757|PMID:24817641|PMID:25085752|PMID:25151137|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25682074|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26041759|PMID:26187060|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26467025|PMID:26556299|PMID:26576347|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26757417|PMID:26761715|PMID:26787237|PMID:26845104|PMID:26848529|PMID:26852015|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27194814|PMID:27257965|PMID:27356891|PMID:27425403|PMID:27433846|PMID:27616075|PMID:27741520|PMID:27836010|PMID:27878467|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28195393|PMID:28222693|PMID:28277317|PMID:28492532|PMID:28664449|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28831036|PMID:28888541|PMID:28985766|PMID:28993434|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29262651|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29988080|PMID:30014164|PMID:30039884|PMID:30078507|PMID:30093976|PMID:30199306|PMID:30217213|PMID:30257646|PMID:30267214|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30425037|PMID:30555256|PMID:30612635|PMID:30613976|PMID:30625039|PMID:30630528|PMID:30652428|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31263571|PMID:31294896|PMID:31396961|PMID:31409081|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31528241|PMID:31589614|PMID:31721094|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31875949|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32073954|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32211327|PMID:32255556|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32398771|PMID:32455662|PMID:32467295|PMID:32521533|PMID:32623769|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32918181|PMID:33047316|PMID:33054725|PMID:33087929|PMID:33471991|PMID:33558524|PMID:33609447|PMID:33654310|PMID:33758026|PMID:33891299|PMID:34046351|PMID:34072659|PMID:34308104|PMID:34326862|PMID:34399810|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34887416|PMID:35008403|PMID:35115620
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:35171259|PMID:35264596|PMID:35710434|PMID:35864222|PMID:35918668|PMID:36329109|PMID:36551643|PMID:36555431|PMID:36988593|PMID:37461096|PMID:37804357|PMID:38509102|PMID:38922859|PMID:39779848|PMID:39779857|PMID:40413188|PMID:6683254|PMID:8524414|PMID:8665505|PMID:8896551|PMID:8988179|PMID:9579822|PMID:9585608|PMID:9585613
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:deletion: :6174delT	PMID:18165636|REF_RGD_ID:2289046
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2394	ovarian cancer	no_association	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.N372H (rs144848)(human)	PMID:18431743|REF_RGD_ID:9068468
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2841	asthma		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:31911673
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:2871	endometrial carcinoma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:11920643|PMID:12097257|PMID:15340362|PMID:16683254|PMID:18489799|PMID:19949876|PMID:20104584|PMID:21720365|PMID:22923021|PMID:24156927|PMID:24504028|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26577449|PMID:26659639|PMID:27831900|PMID:28492532|PMID:28724667|PMID:28814288|PMID:28993434|PMID:29446198|PMID:29625052|PMID:30702160|PMID:31076742|PMID:31911673|PMID:32885271|PMID:33471991|PMID:35464868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ductal breast carcinoma	PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36329109
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, invasive ductal | ClinVar Annotator: match by term: Invasive Ductal Carcinoma, Not Otherwise Specified | ClinVar Annotator: match by term: Invasive ductal breast carcinoma | ClinVar Annotator: match by term: Invasive ductal carcinoma	PMID:11927503|PMID:14555511|PMID:15145354|PMID:15235023|PMID:17767707|PMID:18627636|PMID:20135345|PMID:21520333|PMID:22476429|PMID:23231788|PMID:24033266|PMID:25741868|PMID:28222693|PMID:28492532|PMID:30287823|PMID:31837001|PMID:31911673|PMID:33471991|PMID:36329109
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19949876|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31209999|PMID:32295079|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10644434|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11400546|PMID:11802209|PMID:12065746|PMID:12373604|PMID:12655567|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15070707|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16389418|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18465347|PMID:18703817|PMID:19016756|PMID:19491284|PMID:19654294|PMID:19863560|PMID:19967274|PMID:20104584|PMID:20167696|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21709188|PMID:21913181|PMID:22006311|PMID:22009639|PMID:22217648|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23569316|PMID:23621881|PMID:23767878|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26657402|PMID:26681312|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28724667|PMID:28915716|PMID:28918466|PMID:28973083|PMID:29088781|PMID:29161300|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29753700|PMID:29907814|PMID:29909963|PMID:30078507|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30606148|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31331294|PMID:31837001|PMID:31957001|PMID:32098980|PMID:32101877|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32521533|PMID:32875559|PMID:32885271|PMID:33461583|PMID:33471991|PMID:33478551|PMID:34567246|PMID:35535697|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25382762|PMID:25428789|PMID:25525159|PMID:25637381|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10644434|PMID:10660329|PMID:10790213|PMID:10978364|PMID:11149425|PMID:11179017|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:12065746|PMID:12373604|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15800311|PMID:16030099|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16905680|PMID:16912212|PMID:16920162|PMID:17063270|PMID:17148771|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17688236|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18393245|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18703817|PMID:18704680|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21520273|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:23096105|PMID:23199084|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23942203|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24301060|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:251866|PMID:25186627|PMID:25236687|PMID:25330149|PMID:25348012|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26026974|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26786923|PMID:26834852|PMID:26845104|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29907814|PMID:29909963|PMID:29915322|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31589614|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32426482|PMID:32438681|PMID:32467295
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33773534|PMID:33918338|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36988593|PMID:8589730|PMID:8673090|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10399947|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10790213|PMID:10874312|PMID:10978364|PMID:11062481|PMID:11149425|PMID:11179017|PMID:11207042|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12215251|PMID:12373604|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12845657|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16978908|PMID:17063270|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17636422|PMID:17688236|PMID:17767707|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18752448|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20373018|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23942203|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25236687|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:27153395|PMID:27165126|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:28349240|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28831036|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29321669|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29988080|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32521533|PMID:32532514|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32806537|PMID:32846166|PMID:32853339|PMID:32875559|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33773534|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34196900|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35753294|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10399947|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10790213|PMID:10874312|PMID:10978364|PMID:11062481|PMID:11149425|PMID:11179017|PMID:11207042|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11897832|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12215251|PMID:12373604|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12845657|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17636422|PMID:17688236|PMID:17767707|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18752448|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23318356|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23942203|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25236687|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27165126
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28825054|PMID:28831036|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32923906|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34097676|PMID:34196900|PMID:34298626|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35949895|PMID:36119527|PMID:36232564|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:28503720|PMID:28541631|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28825054|PMID:28831036|PMID:28905878|PMID:28918466|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29915322|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32098980|PMID:32164353|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32532514|PMID:32571290|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32923906|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34097676|PMID:34196900|PMID:34298626|PMID:34399810|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35949895|PMID:36119527|PMID:36232564|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10399947|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10790213|PMID:10874312|PMID:10978364|PMID:11062481|PMID:11149425|PMID:11179017|PMID:11207042|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11897832|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12215251|PMID:12373604|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15131399|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15382066|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17636422|PMID:17767707|PMID:17924331|PMID:17925560|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18694767|PMID:18703817|PMID:18752448|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:21120943|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22217648|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23318356|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23621881|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23942203|PMID:23961350|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:251866|PMID:25186627|PMID:25236687|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25682074|PMID:25685387|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25948282|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26580448|PMID:26657402|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28176296|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28477318|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:28503720|PMID:28541631|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28825054|PMID:28831036|PMID:28905878|PMID:28918466|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29915322|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30199306|PMID:30203341|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32098980|PMID:32164353|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32532514|PMID:32571290|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32923906|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34097676|PMID:34196900|PMID:34298626|PMID:34399810|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34687993|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35949895|PMID:36119527|PMID:36232564|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:38417439|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9536098|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:10399947|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10790213|PMID:10874312|PMID:10978364|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11897832|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12373604|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14670928|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17636422|PMID:17767707|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20960228|PMID:21120943|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21520273|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21735045|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23318356|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23621881|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23942203|PMID:23961350|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:26580448|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28657667|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28831036|PMID:28905878|PMID:28918466|PMID:28993434|PMID:29020732|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29945567|PMID:29988080|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30425037|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32098980|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32856869|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32923906|PMID:33008098|PMID:33087929|PMID:33113089|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33850850|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34298626|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34687993|PMID:34717758|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35753294|PMID:35875314|PMID:35949895|PMID:36119527|PMID:36232564|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37349538|PMID:37461096|PMID:38417439|PMID:38922859|PMID:8589730|PMID:8673090|PMID:8988179|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10399947|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10790213|PMID:10874312|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11897832|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12474142|PMID:12556369|PMID:12655567|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14670928|PMID:14732925|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17636422|PMID:17688236|PMID:17767707|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18607349|PMID:186727|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18821011|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19574032|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20960228|PMID:21120943|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23318356|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23621881|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:26022348
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:26026974|PMID:26046366|PMID:26064523|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28831036|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30548481|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31060523|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32806537|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32875559|PMID:32885271|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33087929|PMID:33113089|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33891299
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34298626|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34687993|PMID:34717758|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35875314|PMID:35949895|PMID:36119527|PMID:36232564|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36721989|PMID:36988593|PMID:37349538|PMID:37461096|PMID:38417439|PMID:38922859|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8988179|PMID:9012404|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10359546|PMID:10399947|PMID:10464609|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11389159|PMID:11400546|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11897832|PMID:11927503|PMID:11929857|PMID:11938448|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12442275|PMID:12474142|PMID:12491487|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12698193|PMID:12750261|PMID:12845657|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15955690|PMID:15983021|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17636422|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20960228|PMID:21120943|PMID:21138478|PMID:21203900|PMID:21205087|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990165|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22848303|PMID:22866093|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23318356|PMID:23320992|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23613520
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:23621881|PMID:23633455|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23977390|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24372583|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25737278|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25927356|PMID:25948282|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26046366|PMID:26064523|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27194814|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27495310|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28541631|PMID:28616458|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28831036|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28973083|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29263802|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29945567|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30548481|PMID:30603682|PMID:30606148|PMID:30612635|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060523|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32872764|PMID:32875559|PMID:32885271|PMID:32923906|PMID:32947577|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33054725|PMID:33087929|PMID:33113089|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33403015|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34298626|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34906479|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35535697|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35875314|PMID:35918668|PMID:35949895|PMID:36119527|PMID:36171877|PMID:36232564|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36721989|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37349538|PMID:37461096|PMID:38417439|PMID:38922859|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8988179|PMID:9012404|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10464609|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:11938448|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12442275|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12845657|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:14973102|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15382066|PMID:15533909|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15876480|PMID:15887246|PMID:15889636|PMID:15944772|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17341484|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18819001|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19052777|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19796187|PMID:19799798|PMID:19861517|PMID:19863560|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21138478|PMID:21203900|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990165|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22460208|PMID:22476429
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:22486713|PMID:22505045|PMID:22535016|PMID:22578220|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22866093|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:22995991|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23318356|PMID:23320992|PMID:23341105|PMID:23415752|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23613520|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23966579|PMID:23977390|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24123850|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24372583|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25583207|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25877891|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26350514|PMID:26360800|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26576347|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26787237|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27000661|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165126|PMID:27194814|PMID:27225637|PMID:27257965|PMID:27271530|PMID:27376475|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27456091|PMID:27469594|PMID:27495310|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27882536|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29263802|PMID:29288066|PMID:29308099|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30728895|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31019283|PMID:31060523|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31294896|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32365798|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32872764|PMID:32875559|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32947577|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33054725|PMID:33067490|PMID:33077847|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33403015|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33858029|PMID:33875706|PMID:33891299|PMID:33918338|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34906479|PMID:34970085|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37731132|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 2 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36370215|PMID:36397405|PMID:36474027|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36980738|PMID:36988593|PMID:36998040|PMID:37116400|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37731132|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39402389|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9771877|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10227398|PMID:10359546|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10464624|PMID:10486320|PMID:10550133|PMID:10570174|PMID:10595255|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10733239|PMID:10739756|PMID:10790213|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11030418|PMID:11039575|PMID:11062481|PMID:11149425|PMID:11158174|PMID:11170890|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11307153|PMID:11359068|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11597388|PMID:11710890|PMID:11754111|PMID:11802209|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927503|PMID:11929857|PMID:12065746|PMID:12097290|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12373604|PMID:12402332|PMID:12442265|PMID:12473589|PMID:12474142|PMID:12556369|PMID:12569143|PMID:12655567|PMID:12698193|PMID:12750261|PMID:12774040|PMID:12920083|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14576434|PMID:14647210|PMID:14647438|PMID:14670928|PMID:14732925|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235023|PMID:15290653|PMID:15340362|PMID:15382066|PMID:15548363|PMID:15635067|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15800311|PMID:15887246|PMID:15944772|PMID:15994883|PMID:16030099|PMID:16115142|PMID:16168118|PMID:16168123|PMID:16199547|PMID:16205630|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16825431|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16978908|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17301269|PMID:17453335|PMID:17513806|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17688236|PMID:17767707|PMID:17850627|PMID:17924331|PMID:17925560|PMID:17972171|PMID:18006916|PMID:18042939|PMID:18182994|PMID:18284688|PMID:18375895|PMID:18393245|PMID:18424508|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18547621|PMID:18563556|PMID:18607349|PMID:18627636|PMID:186727|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18821011|PMID:18844490|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19967274|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20167696|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20373018|PMID:20608899|PMID:20616022|PMID:20694749|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20960228|PMID:21120943|PMID:21232165|PMID:21233401|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21598239|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22085629|PMID:22109874|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22382806|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22848303|PMID:22875147|PMID:22895246|PMID:22923021|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23199084|PMID:23231788|PMID:23318356|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569310|PMID:23569316|PMID:23621881|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23725378|PMID:23767878|PMID:23884708|PMID:23929434|PMID:23940062
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:23942203|PMID:23961350|PMID:23966579|PMID:24010542|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24141157|PMID:24156927|PMID:24212087|PMID:24249303|PMID:24259538|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24735155|PMID:24737347|PMID:24814045|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25136594|PMID:25146914|PMID:251866|PMID:25186627|PMID:25233892|PMID:25236687|PMID:25256924|PMID:25274553|PMID:25330149|PMID:25348012|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:25927356|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26026974|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26145171|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26350514|PMID:26360800|PMID:26425718|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26576347|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26657402|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26724258|PMID:26733283|PMID:26757417|PMID:26786923|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26933808|PMID:26968956|PMID:27062684|PMID:27124784|PMID:27153395|PMID:27165126|PMID:27225637|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27535533|PMID:27553368|PMID:27616075|PMID:27732944|PMID:27741520|PMID:27767231|PMID:278235|PMID:27831900|PMID:27836010|PMID:27914478|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28087643|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28423363|PMID:28476184|PMID:28477318|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28541631|PMID:28616458|PMID:28632866|PMID:28657667|PMID:28664506|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29061375|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29202330|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29395620|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29790872|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29937315|PMID:29945567|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30400234|PMID:30425037|PMID:30447919|PMID:30472649|PMID:30489631|PMID:30548481|PMID:30606148|PMID:30609409|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30742731|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30875412|PMID:30877237|PMID:30883245
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:30972954|PMID:30982232|PMID:31060523|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143373|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31325073|PMID:31331294|PMID:31343793|PMID:31360904|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31569370|PMID:31589614|PMID:31642931|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31782247|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31871109|PMID:31892343|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32132887|PMID:32164353|PMID:32190957|PMID:32255556|PMID:32256484|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32393398|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32489267|PMID:32521533|PMID:32531196|PMID:32532514|PMID:32571290|PMID:32581362|PMID:32606146|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32772980|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32875559|PMID:32885271|PMID:32918181|PMID:32923906|PMID:32980694|PMID:33008098|PMID:33054725|PMID:33077847|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33372952|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33478551|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33842585|PMID:33850850|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34008015|PMID:34022715|PMID:34072659|PMID:34097676|PMID:34196900|PMID:34235180|PMID:34250417|PMID:34287479|PMID:34298626|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34541275|PMID:34567246|PMID:34597585|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34970085|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35353237|PMID:35451682|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35665744|PMID:35714671|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35949895|PMID:35980532|PMID:36119527|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36474027|PMID:36627197|PMID:36721989|PMID:36881271|PMID:36922933|PMID:36974006|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37310942|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37791389|PMID:37916805|PMID:38069422|PMID:38153744|PMID:38355628|PMID:38409497|PMID:38480854|PMID:38922859|PMID:39062721|PMID:39194688|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9012404|PMID:9042909|PMID:9145676|PMID:9150150|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9361038|PMID:9536098|PMID:9585608|PMID:9585613|PMID:9667259|PMID:9758598|PMID:9792861|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10570174|PMID:10682686|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11062481|PMID:11179017|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12065746|PMID:12097290|PMID:12181777|PMID:12204006|PMID:12474142|PMID:12655567|PMID:12698193|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647413|PMID:14973102|PMID:15131399|PMID:15235023|PMID:15290653|PMID:15365993|PMID:15695382|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16847550|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17100994|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17924331|PMID:17925560|PMID:18284688|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18821011|PMID:18951446|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19656415|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20215541|PMID:20513136|PMID:20736950|PMID:21305653|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21720365|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22072316|PMID:22109874|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22632462|PMID:22682623|PMID:22703879|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23108138|PMID:23146383|PMID:23348723|PMID:23451180|PMID:23479189|PMID:23569316|PMID:23593081|PMID:23884708|PMID:23929434|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24607278|PMID:24618965|PMID:24728327|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25085752|PMID:25146914|PMID:25236687|PMID:25256924|PMID:25382762|PMID:25428789|PMID:25451944|PMID:25452441|PMID:25525159|PMID:25628955|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:26026974|PMID:26046366|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:27149842|PMID:27257965|PMID:27433846|PMID:27741520|PMID:27836010|PMID:27886673|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28339459|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28657667|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29020732|PMID:29061375|PMID:29088781|PMID:29176636|PMID:29263802|PMID:29308099|PMID:29335924|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29566657|PMID:29625052|PMID:29673794|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29988080|PMID:30068706|PMID:30078507|PMID:30130155|PMID:30199306|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30472649|PMID:30606148|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31214711|PMID:31264438|PMID:31331294|PMID:31343793|PMID:31409081|PMID:31447099|PMID:31569370|PMID:31612916|PMID:31642931|PMID:31721781|PMID:31794323|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31957001|PMID:32064343|PMID:32068069|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32295079|PMID:32318955|PMID:32354836|PMID:32380732|PMID:32398771|PMID:32438681|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32532514|PMID:32658311|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33309985
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:33428613|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33773534|PMID:33804961|PMID:33850299|PMID:33978741|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34597585|PMID:34598035|PMID:34741701|PMID:34906479|PMID:35264596|PMID:35353237|PMID:35402282|PMID:35451682|PMID:35535697|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36329109|PMID:36370215|PMID:36785489|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37719058|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40257527|PMID:8589730|PMID:8988179|PMID:9012404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10570174|PMID:10682686|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11179017|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12065746|PMID:12097290|PMID:12181777|PMID:12204006|PMID:12474142|PMID:12655567|PMID:12698193|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647413|PMID:14973102|PMID:15131399|PMID:15235023|PMID:15290653|PMID:15365993|PMID:15695382|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16199547|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16847550|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17100994|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17924331|PMID:17925560|PMID:18284688|PMID:18424508|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18821011|PMID:18951446|PMID:19043619|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19656415|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20215541|PMID:20513136|PMID:20736950|PMID:21305653|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21720365|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22072316|PMID:22109874|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22632462|PMID:22682623|PMID:22703879|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23028338|PMID:23035815|PMID:23108138|PMID:23146383|PMID:23348723|PMID:23451180|PMID:23479189|PMID:23569316|PMID:23593081|PMID:23884708|PMID:23929434|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24301060|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24607278|PMID:24618965|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25085752|PMID:25146914|PMID:25236687|PMID:25256924|PMID:25382762|PMID:25428789|PMID:25451944|PMID:25452441|PMID:25525159|PMID:25628955|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:26026974|PMID:26046366|PMID:26187060|PMID:26221963|PMID:26295337|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26733283|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26848529|PMID:26852015|PMID:27149842|PMID:27257965|PMID:27433846|PMID:27741520|PMID:27836010|PMID:27886673|PMID:27989354|PMID:28008555|PMID:28111427|PMID:28127413|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28339459|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28657667|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29020732|PMID:29061375|PMID:29088781|PMID:29176636|PMID:29263802|PMID:29308099|PMID:29335924|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29566657|PMID:29625052|PMID:29673794|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29790872|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29988080|PMID:30068706|PMID:30078507|PMID:30130155|PMID:30199306|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30606148|PMID:30623411|PMID:30630528|PMID:30652428|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31214711|PMID:31264438|PMID:31331294|PMID:31343793|PMID:31409081|PMID:31447099|PMID:31569370|PMID:31612916|PMID:31642931|PMID:31721781|PMID:31794323|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31957001|PMID:32064343|PMID:32068069|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32354836|PMID:32380732|PMID:32398771|PMID:32438681|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32532514|PMID:32658311|PMID:32719484|PMID:32720237|PMID:32761968|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32885271|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33606809|PMID:33609447
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:33773534|PMID:33804961|PMID:33850299|PMID:33978741|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34597585|PMID:34598035|PMID:34741701|PMID:34906479|PMID:35264596|PMID:35353237|PMID:35402282|PMID:35451682|PMID:35535697|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36329109|PMID:36370215|PMID:36785489|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37306523|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37719058|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40257527|PMID:8589730|PMID:8988179|PMID:9012404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:1044354|PMID:10717622|PMID:10874312|PMID:10923033|PMID:10978364|PMID:11044354|PMID:11149425|PMID:11400546|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12097290|PMID:12181777|PMID:12228710|PMID:12655567|PMID:12698193|PMID:12955716|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:15024741|PMID:15131399|PMID:15168169|PMID:15235023|PMID:15766593|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16905680|PMID:16912212|PMID:17148771|PMID:17661168|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18284688|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18703817|PMID:19016756|PMID:19043619|PMID:19200354|PMID:19241424|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20736950|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520333|PMID:21559243|PMID:21638052|PMID:21702907|PMID:21918853|PMID:21990134|PMID:22006311|PMID:22072316|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23096105|PMID:23108138|PMID:23479189|PMID:23929434|PMID:24033266|PMID:24156927|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24556621|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25348012|PMID:25428789|PMID:25447315|PMID:25452441|PMID:25476495|PMID:25628955|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25863477|PMID:25980754|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:27149842|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27616075|PMID:27741520|PMID:27993330|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29088781|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29371908|PMID:29394989|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30068706|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30447919|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31060523|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31263054|PMID:31264438|PMID:31325073|PMID:31336956|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31742824|PMID:31794323|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32064343|PMID:32068069|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32438681|PMID:32444794|PMID:32467295|PMID:32510664|PMID:32522261|PMID:32658311|PMID:32817299|PMID:32832836|PMID:32885271|PMID:32947577|PMID:32980867|PMID:33067490|PMID:33193653|PMID:33293522|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33653301|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34350294|PMID:34413315|PMID:34567246|PMID:34598035|PMID:34645131|PMID:34687993|PMID:34741701|PMID:34970085|PMID:35326540|PMID:35402282|PMID:35451682|PMID:35464868|PMID:35665744|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:35980532|PMID:36232564|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36627197|PMID:36721989|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37310942|PMID:37415649|PMID:37719058|PMID:37842866|PMID:37922907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:38069422|PMID:38153744|PMID:38160042|PMID:38308423|PMID:38520597|PMID:38922859|PMID:39194688|PMID:39402389|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378|PMID:8988179|PMID:9200354
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3070	high grade glioma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:1044354|PMID:10449599|PMID:10717622|PMID:10874312|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11389159|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:12097290|PMID:12181777|PMID:12655567|PMID:12698193|PMID:12928470|PMID:12955716|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14973102|PMID:15024741|PMID:15131399|PMID:15235023|PMID:15365993|PMID:15766593|PMID:15887246|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16912212|PMID:16949048|PMID:17100994|PMID:17148771|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18284688|PMID:18489799|PMID:18627636|PMID:18703817|PMID:19241424|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20301425|PMID:21120943|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23479189|PMID:23569316|PMID:23929434|PMID:24033266|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25428789|PMID:25628955|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25863477|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26845104|PMID:26852015|PMID:27149842|PMID:27433846|PMID:27836010|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28243543|PMID:28281021|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28783718|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29161300|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29881398|PMID:29884841|PMID:29915322|PMID:29922827|PMID:30068706|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30720243|PMID:30877237|PMID:30972954|PMID:30982232|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31528241|PMID:31794323|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32019277|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32510664|PMID:32522261|PMID:32658311|PMID:32817299|PMID:32832836|PMID:32980867|PMID:33193653|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34598035|PMID:34645131|PMID:34741701|PMID:35402282|PMID:35451682|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:39194688|PMID:39438962|PMID:39779848|PMID:39779857|PMID:40249378|PMID:6683254|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3087	gingivitis		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3144	cutis laxa		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3168	squamous cell neoplasm		ISO	RGD:736254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880342
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:10188893|PMID:11802209|PMID:15024741|PMID:16683254|PMID:18489799|PMID:20104584|PMID:23531862|PMID:25741868|PMID:27836010|PMID:28492532|PMID:29368341|PMID:29446198
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3302	chordoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chordoma	PMID:19656415|PMID:25741868|PMID:27149842|PMID:28492532|PMID:31853058|PMID:31911673|PMID:32380732|PMID:32980867|PMID:34178674|PMID:35762214
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3312	bipolar disorder		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3347	osteosarcoma		ISO	RGD:2219	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:16964288|REF_RGD_ID:1599505
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3457	invasive lobular carcinoma		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Invasive lobular breast carcinoma	PMID:14973102|PMID:25741868|PMID:27257965|PMID:28222693|PMID:28492532|PMID:28664449|PMID:30287823|PMID:30702160|PMID:31131967|PMID:31911673|PMID:32467295|PMID:33471991
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3459	breast carcinoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast | ClinVar Annotator: match by term: Multifocal breast carcinoma	PMID:1044354|PMID:10449599|PMID:11044354|PMID:11179017|PMID:11389159|PMID:11802209|PMID:11927503|PMID:12065746|PMID:12203997|PMID:12228710|PMID:12442265|PMID:12928470|PMID:14555511|PMID:14647210|PMID:15131399|PMID:15235023|PMID:15887246|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16489001|PMID:16683254|PMID:16912212|PMID:16920162|PMID:17026620|PMID:17148771|PMID:17515903|PMID:17767707|PMID:17851763|PMID:18006916|PMID:18042939|PMID:18451181|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18824701|PMID:18951446|PMID:19016756|PMID:19043619|PMID:19340607|PMID:19620486|PMID:19818148|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20301425|PMID:20373018|PMID:20380699|PMID:21120943|PMID:21218378|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21702907|PMID:21913181|PMID:21990299|PMID:22666503|PMID:22678057|PMID:22711857|PMID:22720145|PMID:22762150|PMID:22921157|PMID:23035815|PMID:23531862|PMID:23683081|PMID:23704984|PMID:2377269|PMID:24013928|PMID:24033266|PMID:24156927|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24578186|PMID:24728189|PMID:24916970|PMID:25085752|PMID:25103822|PMID:25186627|PMID:25266736|PMID:25348012|PMID:25452441|PMID:25741868|PMID:25863477|PMID:25964535|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26296701|PMID:26467025|PMID:26483394|PMID:26556299|PMID:26586665|PMID:26681312|PMID:26740091|PMID:26846091|PMID:27062684|PMID:27149842|PMID:27153395|PMID:27428751|PMID:27433846|PMID:27836010|PMID:27914478|PMID:28152038|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28993434|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29922827|PMID:30199306|PMID:30212499|PMID:30254663|PMID:30287823|PMID:30350268|PMID:30555256|PMID:30588330|PMID:30702160|PMID:30720243|PMID:30787465|PMID:31060517|PMID:31131967|PMID:31214711|PMID:31336956|PMID:31447099|PMID:31454914|PMID:31706072|PMID:31853058|PMID:31875949|PMID:31911673|PMID:32046981|PMID:32073954|PMID:32338768|PMID:32341426|PMID:32365798|PMID:32427313|PMID:32438681|PMID:32522261|PMID:32658311|PMID:32994724|PMID:33067490|PMID:33293522|PMID:33471991|PMID:33526602|PMID:33573335|PMID:34413315|PMID:34645131|PMID:34657357|PMID:35008403|PMID:35261632|PMID:35382848|PMID:35710434|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36451132|PMID:36988593|PMID:38922859|PMID:39779848|PMID:40249378|PMID:40413188|PMID:9042907|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation: :p.K3326X (human)	PMID:21279724|REF_RGD_ID:11344913
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3883	Lynch syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Papillary thyroid carcinoma	PMID:15145354|PMID:20104584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29909963|PMID:30078507|PMID:32532514|PMID:34572941
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:4362	cervical cancer		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:11802209|PMID:16683254|PMID:18006916|PMID:19818148|PMID:20104584|PMID:21120943|PMID:24578186|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26187060|PMID:26221963|PMID:26467025|PMID:28492532|PMID:28993434|PMID:29752822
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:736254	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11802209|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19052777|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23569316|PMID:23683081|PMID:23961350|PMID:23977390|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25381700|PMID:25382762|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27153395|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28283652|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29907814|PMID:29988080|PMID:30257646|PMID:30262796|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:31263054|PMID:31589614|PMID:31853058|PMID:32022259|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32365798|PMID:32444794|PMID:32489267|PMID:32606146|PMID:32719484|PMID:32850417|PMID:32853339|PMID:33087929|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33964450|PMID:34399810|PMID:36169650|PMID:36329109|PMID:36988593|PMID:36998040|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11802209|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19052777|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23569316|PMID:23683081|PMID:23961350|PMID:23977390|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25381700|PMID:25382762|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27153395|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28283652|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29907814|PMID:29988080|PMID:30257646|PMID:30262796|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:31263054|PMID:31589614|PMID:31853058|PMID:32022259|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32365798|PMID:32438681|PMID:32444794|PMID:32489267|PMID:32531196|PMID:32606146|PMID:32719484|PMID:32850417|PMID:32853339|PMID:32872764|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33403015|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33964450|PMID:34399810|PMID:35264596|PMID:35409996|PMID:36169650|PMID:36329109|PMID:36717774|PMID:36721989|PMID:36980738|PMID:36988593|PMID:36998040|PMID:38922859|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:10699917|PMID:10923033|PMID:11039575|PMID:11179017|PMID:11207042|PMID:11251181|PMID:11802209|PMID:11938448|PMID:12181777|PMID:12204006|PMID:14559878|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15290653|PMID:15382066|PMID:15548363|PMID:15689453|PMID:15695382|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16905680|PMID:16978908|PMID:17100994|PMID:17262179|PMID:17576681|PMID:18042939|PMID:18182994|PMID:18451181|PMID:18489799|PMID:18497862|PMID:18607349|PMID:18819001|PMID:18951461|PMID:19043619|PMID:19052777|PMID:19491284|PMID:19499246|PMID:19656164|PMID:19796187|PMID:19912264|PMID:20104584|PMID:20694749|PMID:21232165|PMID:21324516|PMID:21465317|PMID:21497495|PMID:21548014|PMID:21559243|PMID:21702907|PMID:21735045|PMID:21952622|PMID:21990134|PMID:22144684|PMID:22217648|PMID:22382806|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22682623|PMID:22729890|PMID:22762150|PMID:22798144|PMID:22866093|PMID:23108138|PMID:23199084|PMID:23451180|PMID:23569316|PMID:23683081|PMID:23961350|PMID:23977390|PMID:24013206|PMID:24033266|PMID:24052750|PMID:24156927|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24728189|PMID:25072261|PMID:25085752|PMID:25146914|PMID:25381700|PMID:25382762|PMID:25479140|PMID:25525159|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25863477|PMID:25884701|PMID:26014432|PMID:26026974|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26709275|PMID:26787237|PMID:26834852|PMID:27153395|PMID:27741520|PMID:27767231|PMID:28008555|PMID:28111427|PMID:28283652|PMID:28324225|PMID:28349240|PMID:28423363|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28782087|PMID:28802053|PMID:29020732|PMID:29084914|PMID:29176636|PMID:29339979|PMID:29360161|PMID:29394989|PMID:29433453|PMID:29446198|PMID:29625052|PMID:29758562|PMID:29785153|PMID:29907814|PMID:29988080|PMID:30257646|PMID:30262796|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30350268|PMID:30609409|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:31131967|PMID:31263054|PMID:31589614|PMID:31853058|PMID:32022259|PMID:32206145|PMID:32255556|PMID:32295079|PMID:32365798|PMID:32438681|PMID:32444794|PMID:32489267|PMID:32531196|PMID:32606146|PMID:32719484|PMID:32850417|PMID:32853339|PMID:32872764|PMID:32885271|PMID:33008098|PMID:33087929|PMID:33403015|PMID:33471991|PMID:33606809|PMID:33609447|PMID:33964450|PMID:34399810|PMID:35264596|PMID:35409996|PMID:35736817|PMID:36169650|PMID:36329109|PMID:36717774|PMID:36721989|PMID:36980738|PMID:36988593|PMID:36998040|PMID:38922859|PMID:8665505|PMID:9150150|PMID:9361038|PMID:9536098|PMID:9585613|PMID:9667259|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5041	esophageal cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532|PMID:31911673
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5223	infertility		ISO	RGD:2219	D	RGD:9068941	20200609	RGD			PMID:12754522|REF_RGD_ID:727990
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:7240710	20260812	OMIM			
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17640379|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11512557|PMID:11556836|PMID:11595708|PMID:11597388|PMID:116985367|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:121769658|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20736950|PMID:20804917|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27603373|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34350294|PMID:34399810|PMID:34749799|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32072338|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28595730|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31957001|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32579544|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33087175|PMID:33113089|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33670479|PMID:33672545|PMID:33726785|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29601120|PMID:29610387|PMID:29625052
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19616529|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36200007|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36329109|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387|PMID:29625052
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11941481|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35070997|PMID:35150867|PMID:35171259|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36139606|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28595730|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29601120|PMID:29610387
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35641219|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36139606|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36551643|PMID:36605468|PMID:36977404|PMID:36988593|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37149759|PMID:37415649|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34465320|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34970085|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35150867|PMID:35171259|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35325018|PMID:35353237|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35535697|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36451132|PMID:36551643|PMID:36605468|PMID:36707518|PMID:36721989|PMID:36898365|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:37002487|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37239058|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37731132|PMID:3983145|PMID:4055113|PMID:4301060|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33804961|PMID:33808557
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36551643|PMID:36605468|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36785489|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37664050|PMID:37731132|PMID:37922907|PMID:3983145|PMID:4055113|PMID:4301060|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25741916|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35762214|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36551643|PMID:36605468|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37461096|PMID:37664050|PMID:37731132|PMID:37922907|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9634522
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36537080|PMID:36551643|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37461096|PMID:37664050|PMID:37713444|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38160042|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36537080|PMID:36551643|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37461096|PMID:37664050|PMID:37713444|PMID:37731132|PMID:37922907|PMID:38003901|PMID:38160042|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25944380|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26076356|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36474027|PMID:36537080|PMID:36551643|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37461096|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37731132|PMID:37922907|PMID:37970354|PMID:38003901
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38160042|PMID:38417439|PMID:38439815|PMID:38509102|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36474027|PMID:36537080|PMID:36551643|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37277882|PMID:37306523|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37461096|PMID:37644014|PMID:37664050
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:37713444|PMID:37725113|PMID:37731132|PMID:37922907|PMID:37970354|PMID:38003901|PMID:38136276|PMID:38160042|PMID:38298632|PMID:38417439|PMID:38439815|PMID:38509102|PMID:38922859|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21931168|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24132290|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26373788|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067075|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31887429|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36095024|PMID:36098506|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36474027|PMID:36537080|PMID:36551643|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:3723905|PMID:37239058|PMID:37272928|PMID:37277882|PMID:37306523|PMID:37335020|PMID:37344829
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:37349538|PMID:37415649|PMID:37430226|PMID:37461096|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37725113|PMID:37731132|PMID:37922907|PMID:37970354|PMID:38003901|PMID:38136276|PMID:38160042|PMID:38298632|PMID:38417439|PMID:38439815|PMID:38509102|PMID:38922859|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20804917|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36000185|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024|PMID:36098506|PMID:36099812|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37461096|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38355628|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38566028|PMID:38709234|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:3983145|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15342457|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:2112094324448499|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22275995|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27602761|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33309985|PMID:33314489|PMID:33342804|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34593815|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36000185|PMID:36008414|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024|PMID:36098506|PMID:36099812|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37461096|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38074417|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38355628|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38566028|PMID:38709234|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:39062721|PMID:39194688|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27602761|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29174094|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:3259922|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33037391|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34593815|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35383859|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35694415|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36000185|PMID:36008414|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024|PMID:36098506|PMID:36099812|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38074417|PMID:38075165|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38308422|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38641594|PMID:38709234|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:39062721|PMID:39080120|PMID:39096911|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:4055113|PMID:668580|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:184056|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:186727|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11759652|PMID:11781689|PMID:1178672|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1446381|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15342457|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15801311|PMID:15806175|PMID:15858120
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:218118|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:2204289|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22275995|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24141157|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:251866|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27602761|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:278235|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27854218|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28259746|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:3259922|PMID:32599251|PMID:32606146|PMID:32613071|PMID:326144|PMID:32614418|PMID:32623391|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33037391|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34593815|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35383859|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35681111|PMID:35693198|PMID:35694415|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36000185|PMID:36008414|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024|PMID:36098506|PMID:36099812|PMID:36113475
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:36119527|PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38074417|PMID:38075165|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38308422|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38641594|PMID:38652475|PMID:38658784|PMID:38709234|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:38927659|PMID:39062721|PMID:39080120|PMID:39096911|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:39779848|PMID:39779857|PMID:4055113|PMID:668580|PMID:7|PMID:734551|PMID:7924331|PMID:8075631|PMID:831230|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:897864|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16015582|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16768547|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:1772447|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19011960|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19052777|PMID:19064968|PMID:19070627|PMID:19073510|PMID:19087709|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19574032|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180605|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11284040|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11759652|PMID:11781689|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114473|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673274|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1410019|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15342457|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15548676|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15801311|PMID:15806175|PMID:15858120
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:20215541|PMID:20216074|PMID:20223018|PMID:20232141|PMID:20233483|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20450923|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21285146|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:2204289|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22275995|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22585170|PMID:22608084|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23179793|PMID:23192360|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23877192|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23977390|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27602761|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28259746|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28794409|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:3121471|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:3259922|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33037391|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34593815|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35278150|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35383859|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35693198|PMID:35694415|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36000185|PMID:36008414|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:36098506|PMID:36099812|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36979741|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37563628|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37725154|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37852034|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38074417|PMID:38075165|PMID:38114467|PMID:38136276|PMID:38147532|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38300310|PMID:38308422|PMID:38308423|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38641594|PMID:38652475|PMID:38658784|PMID:38709234|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:38927659|PMID:38960732|PMID:39062721|PMID:39080120|PMID:39096911|PMID:39187384|PMID:39194688|PMID:39208653|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:39779848|PMID:39779857|PMID:4055113|PMID:7|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24389050|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25558065|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25833843|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26041759|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26425718|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27077130|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27602761|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28259746|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28338653|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28608266|PMID:28616458|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28794409|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29045505|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29262651|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29341116|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29905759|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30240327|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30293905|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30548481|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30638113|PMID:30640733|PMID:30643566|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30839285|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31039815|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:3121471|PMID:31214711|PMID:31227342|PMID:31227566|PMID:31228304|PMID:31229654|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31265121|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31358837|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31510873|PMID:31512090|PMID:31514334|PMID:31518337|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31556562|PMID:31558676|PMID:31565484|PMID:31567591|PMID:31569370|PMID:31575519|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31748433|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31970404|PMID:31980526|PMID:32002120|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32064343|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32170000|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32268276|PMID:32277576|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:3244479|PMID:32444794|PMID:32451972|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32489267|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32531196|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32571290|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32596633|PMID:3259922|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32770442|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32816949|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32872764|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33015532|PMID:33016334|PMID:33020491|PMID:33037391|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33203166|PMID:33230308|PMID:33233347|PMID:33240400|PMID:33273034
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:33278427|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33359728|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33461977|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33563768|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33674644|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:3378028|PMID:33780288|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33854378|PMID:33858029|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34011307|PMID:34022715|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34100114|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34201547|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250406|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34298626|PMID:34302857|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34316023|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34377931|PMID:34399810|PMID:34413315|PMID:34426522|PMID:34445631|PMID:34449592|PMID:34452747|PMID:34465320|PMID:34482403|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34504103|PMID:34506673|PMID:34541275|PMID:34548921|PMID:34552099|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34593815|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34632253|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34700141|PMID:34707284|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34761457|PMID:34771991|PMID:34820595|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35039564|PMID:35050751|PMID:35053526|PMID:35070997|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35205313|PMID:35205366|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35278150|PMID:35281878|PMID:35300142|PMID:35309086|PMID:35325018|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35373174|PMID:35377489|PMID:35382848|PMID:35383859|PMID:35402282|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35420638|PMID:35428255|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35449176|PMID:35451682|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35483882|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35535289|PMID:35535697|PMID:35547873|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35693198|PMID:35694415|PMID:35698740|PMID:35710434|PMID:35711920|PMID:35714671|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35737919|PMID:35739269|PMID:35740625|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35879854|PMID:35886069|PMID:35892882|PMID:35908255|PMID:35912641|PMID:35918668|PMID:35944511|PMID:35949895|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36000185|PMID:36008414|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36095024|PMID:36098506|PMID:36099812|PMID:36113475|PMID:36119527
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:36139606|PMID:36140756|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36179682|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36259290|PMID:36290365|PMID:36292577|PMID:36315513|PMID:36324133|PMID:36329109|PMID:36359225|PMID:36367123|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446039|PMID:36446827|PMID:36451132|PMID:36467798|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36623239|PMID:36627197|PMID:36707518|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36851449|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36898365|PMID:36900197|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36979741|PMID:36980738|PMID:36980780|PMID:36988593|PMID:36998040|PMID:36999648|PMID:37002487|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37149759|PMID:37173992|PMID:37216690|PMID:37231433|PMID:3723905|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37344829|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37430226|PMID:37430352|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37563628|PMID:37596911|PMID:37644014|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37725154|PMID:37731132|PMID:37731153|PMID:37791389|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37852034|PMID:37914699|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38074417|PMID:38075165|PMID:38114467|PMID:38136276|PMID:38147532|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38282550|PMID:38298632|PMID:38300310|PMID:38308422|PMID:38308423|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38641594|PMID:38652475|PMID:38658784|PMID:38709234|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38811720|PMID:38843470|PMID:38874686|PMID:38887977|PMID:38922859|PMID:38927659|PMID:38960732|PMID:39062721|PMID:39080120|PMID:39096911|PMID:39187384|PMID:39194688|PMID:39208653|PMID:39256447|PMID:39271738|PMID:39335746|PMID:39402389|PMID:39427061|PMID:39779848|PMID:39779857|PMID:4055113|PMID:7|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:91784|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9400938|PMID:9405383|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9609997|PMID:9625424|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9802270|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10091212|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11170890|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11251181|PMID:11284040|PMID:11304778|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710890|PMID:11748848|PMID:11754111|PMID:11759652|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12385017|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624724|PMID:12649099|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15535929|PMID:15548363|PMID:15548676|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15801311|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16684319|PMID:16685647|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16950820|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17301269|PMID:17308087|PMID:17341484|PMID:17351952|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17576681|PMID:17591842
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:17591843|PMID:17592676|PMID:17636422|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951446|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19179552|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19656164|PMID:19656415|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19795481|PMID:19805903|PMID:19818148|PMID:19861517|PMID:19894111|PMID:1990134|PMID:19941162|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20054658|PMID:20104584|PMID:20122277|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20435227|PMID:20450923|PMID:20507642|PMID:20513136|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20616022|PMID:20617377|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21601571|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:2204289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22632462|PMID:22652532|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22874498|PMID:22875147|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23146383|PMID:23179793|PMID:23192360|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23348723|PMID:23415752|PMID:23451180
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23615697|PMID:23633455|PMID:23635950|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23754601|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24145998|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285729|PMID:24285858|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24337145|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24729269|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24884479|PMID:24884828|PMID:24896180|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25233892|PMID:25236687|PMID:25256751|PMID:25256924|PMID:25282148|PMID:25303977|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25351503|PMID:25356972|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25833843|PMID:25859162|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26137147|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26243651|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26635394|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740259|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27009842|PMID:27052656|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27208206|PMID:27221885|PMID:27223485
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27322732|PMID:27328445|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27516001|PMID:27535533|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27930734|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28028924|PMID:28039656|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28185119|PMID:28194609|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28357044|PMID:28392550|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28975465|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29137355|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29398457|PMID:29409476|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29506128|PMID:29534594|PMID:29560538|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29988080|PMID:30014022|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30212499|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263132|PMID:30267214|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30311369|PMID:30322717|PMID:30333958
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:30339520|PMID:30340782|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30541756|PMID:30548481|PMID:30555256|PMID:30583724|PMID:30601186|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31050813|PMID:31060517|PMID:31060593|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32028173|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32064343|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32354124|PMID:32354836|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32579544|PMID:32599251|PMID:32606146|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32699032|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32773770|PMID:32776218|PMID:32778078|PMID:32778766|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33020491|PMID:33020649|PMID:33047316
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33084842|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33193653|PMID:33203166|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33298767|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33476590|PMID:33479248|PMID:33484353|PMID:33503928|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33653301|PMID:33691754|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33850850|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33964450|PMID:33978741|PMID:34026625|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34326328|PMID:34326862|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34449592|PMID:34452747|PMID:34490083|PMID:34500047|PMID:34506673|PMID:34541275|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34637943|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34707284|PMID:34717758|PMID:34741701|PMID:34761457|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34933735|PMID:34949660|PMID:34979999|PMID:34994648|PMID:35087763|PMID:35101336|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35326540|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35460704|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35585550|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35892882|PMID:35918668|PMID:35944511|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36091166|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36290365|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36474027|PMID:36493725|PMID:36495689|PMID:36537080|PMID:36561320|PMID:36605468|PMID:36612041|PMID:36627197|PMID:36672847|PMID:36717774|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36845387|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36999648|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37118955|PMID:37173992|PMID:37216690|PMID:3723905|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37536918|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37809048|PMID:37842866|PMID:37851290|PMID:37901334|PMID:37922907|PMID:37937776|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38114467|PMID:38136276|PMID:38136308|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38271184|PMID:38300310|PMID:38349998|PMID:38350919|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:38520597|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38650031|PMID:38652475|PMID:38658784|PMID:38685107|PMID:38709234|PMID:38741424|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38843470|PMID:38874686|PMID:38912178|PMID:38922859|PMID:39001544|PMID:39041507|PMID:39062721|PMID:39096911|PMID:39142283|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39335746|PMID:39375938|PMID:39402389|PMID:39438962|PMID:39440754|PMID:39448951|PMID:39451174|PMID:39488595|PMID:39541563|PMID:39733403|PMID:39779848|PMID:39779857|PMID:39923681|PMID:40068381|PMID:40232841|PMID:40257527|PMID:40413188|PMID:40531958|PMID:4055113|PMID:40664060|PMID:40769711|PMID:40851390|PMID:41699384|PMID:7436117|PMID:7924331|PMID:8524414|PMID:8589730|PMID:8665505|PMID:8673091|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9228974|PMID:9361038|PMID:9405383|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9625424|PMID:9654203|PMID:9667259|PMID:9760198|PMID:9761393|PMID:9771877|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10091212|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11251181|PMID:11284040|PMID:11304778|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710890|PMID:11754111|PMID:11759652|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12112655|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12385017|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624724|PMID:12649099|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15535929|PMID:15548363|PMID:15548676|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15801311|PMID:15858120|PMID:15863663|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16684319|PMID:16685647|PMID:16758124|PMID:16760289|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16950820|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17301269|PMID:17308087|PMID:17341484|PMID:17351952|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17592676|PMID:17636422|PMID:17661168
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10091212|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11241844|PMID:11251181|PMID:11284040|PMID:11304778|PMID:11389159|PMID:11391658|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710890|PMID:11754111|PMID:11759652|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12112655|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1234|PMID:12373604|PMID:12385017|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624724|PMID:12649099|PMID:12655567|PMID:12670525|PMID:12672316|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15535929|PMID:15548363|PMID:15548676|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15801311|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16551709|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16684319|PMID:16685647|PMID:16758124|PMID:16760289|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16949048|PMID:16950820|PMID:16978908|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17026620|PMID:17027500|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17301269|PMID:17308087|PMID:17341484|PMID:17351952|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:17515904|PMID:17541404|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17592676|PMID:17636422|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951446|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19656164|PMID:19656415|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19795481|PMID:19805903|PMID:19861517|PMID:19894111|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20104584|PMID:20122277|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20232141|PMID:20301425|PMID:20301575|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20383589|PMID:20406929|PMID:20435227|PMID:20450923|PMID:20507642|PMID:20513136|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20616022|PMID:20617377|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20887823|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21497495|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21568838|PMID:21601571|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:2204289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22632462|PMID:22652532|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22874498|PMID:22875147|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23146383|PMID:23179793|PMID:23192360|PMID:23199084
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23415752|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23615697|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23747895|PMID:23754601|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24131973|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285729|PMID:24285858|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24729269|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24884479|PMID:24884828|PMID:24896180|PMID:24916970|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25233892|PMID:25236687|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25282148|PMID:25303977|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556971|PMID:25557953|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25833843|PMID:25859162|PMID:25863477|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26064523|PMID:26137147|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26243651|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26635394|PMID:26657402|PMID:26681312|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740259|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27009842|PMID:27052656|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:27149842|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27208206|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27303907|PMID:27322732|PMID:27328445|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27516001|PMID:27535533|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27628236|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28028924|PMID:28039656|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28392550|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28632866|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28975465|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29137355|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29854292|PMID:29860059|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29988080|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30212499|PMID:30214756|PMID:30233647
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263132|PMID:30267214|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30583724|PMID:30588330|PMID:30601186|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30840204|PMID:30850667|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32028173|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32064343|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32354124|PMID:32354836|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32486089|PMID:32489267|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32571290|PMID:32579544|PMID:32581362|PMID:32606146|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32699032|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32773770|PMID:32776218|PMID:32778078|PMID:32778766|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32856869|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32971473
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33020491|PMID:33020649|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33193653|PMID:33203166|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33298767|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33503928|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33670479|PMID:33691754|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33858029|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34130653|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34326328|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34452747|PMID:34490083|PMID:34500047|PMID:34506673|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34584710|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34707284|PMID:34717758|PMID:34741701|PMID:34761457|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35087763|PMID:35101336|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35460704|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35585550|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35654374|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35858847|PMID:35861108|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35892882|PMID:35918668|PMID:35944511|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36011273|PMID:36091166|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36290365|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36397405|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36493725|PMID:36495689|PMID:36537080|PMID:36555431|PMID:36561320|PMID:36605468|PMID:36612041|PMID:36623239|PMID:36627197|PMID:36672847|PMID:36717774|PMID:36720553|PMID:36721989|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36845387|PMID:36853301|PMID:36881271|PMID:36896836|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36999648|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37118955|PMID:37173992|PMID:37216690|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37461096|PMID:37517399|PMID:37536918|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37851290|PMID:37901334
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:37922907|PMID:37937776|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38114467|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38271184|PMID:38295319|PMID:38300310|PMID:38324470|PMID:38349998|PMID:38350919|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38520597|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38650031|PMID:38652475|PMID:38658784|PMID:38685107|PMID:38709234|PMID:38711401|PMID:38741424|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38843470|PMID:38874686|PMID:38912178|PMID:38922859|PMID:39001544|PMID:39041507|PMID:39062721|PMID:39096911|PMID:39142283|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39335746|PMID:39375938|PMID:39402389|PMID:39438962|PMID:39440754|PMID:39448951|PMID:39451174|PMID:39488595|PMID:39541563|PMID:39702187|PMID:39733403|PMID:39779848|PMID:39779857|PMID:39923681|PMID:40068381|PMID:40232841|PMID:40249378|PMID:40257527|PMID:40413188|PMID:40531958|PMID:4055113|PMID:40664060|PMID:40769711|PMID:40851390|PMID:41699384|PMID:6683254|PMID:7436117|PMID:7924331|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9200354|PMID:9361038|PMID:9405383|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9625424|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9760198|PMID:9761393|PMID:9771877|PMID:9836472|PMID:9840533|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:17636422|PMID:17661168|PMID:17688236|PMID:1772447|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18439106|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18607349|PMID:18627636|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951446|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19047089|PMID:19179552|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19656164|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19795481|PMID:19805903|PMID:19818148|PMID:19894111|PMID:19941162|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20122277|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20301575|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20435227|PMID:20450923|PMID:20507642|PMID:20513136|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20616022|PMID:20617377|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21568838|PMID:21601571|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:2204289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22632462|PMID:22652532|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22874498|PMID:22875147|PMID:22908307|PMID:22913592|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23146383|PMID:23165508|PMID:23179793|PMID:23192360|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:1|PMID:10091212|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:1044354|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11251181|PMID:11284040|PMID:11304778|PMID:11336395|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710890|PMID:11754111|PMID:11759652|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12112655|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12373604|PMID:12385017|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673801|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15535929|PMID:15548363|PMID:15548676|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15801311|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16551709|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17026620|PMID:17027500|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17333343|PMID:17351952|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17592676
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23615697|PMID:23633455|PMID:23635950|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23747895|PMID:23754601|PMID:23767878|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24131973|PMID:24145998|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24729269|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24884479|PMID:24884828|PMID:24896180|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25282148|PMID:25303977|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25833843|PMID:25859162|PMID:25863477|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26137147|PMID:26147798|PMID:26153499|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26243651|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26439132|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740259|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26976419|PMID:26992456|PMID:26997744|PMID:27009842|PMID:27052656|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27208206|PMID:27211102|PMID:27221885|PMID:27223485|PMID:27225637
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27303907|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27535533|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27978560|PMID:27989354|PMID:27993330|PMID:28008555|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28259746|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28357044|PMID:28392550|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28487467|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28673926|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28975465|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29398457|PMID:29409476|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29905759|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30212499
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:30214240|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263132|PMID:30267214|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430080|PMID:30441849|PMID:30447919|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30583724|PMID:30601186|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30840204|PMID:30850667|PMID:30865812|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31050813|PMID:31060517|PMID:31060523|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31512090|PMID:31514334|PMID:31528241|PMID:31537621|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32028173|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32064343|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32164353|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32354124|PMID:32354836|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32571290|PMID:32579544|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32773770|PMID:32776218|PMID:32778078|PMID:32778766|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32824581|PMID:32832836
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32947577|PMID:32957395|PMID:32959997|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33020491|PMID:33020649|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33193653|PMID:33203166|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33298767|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33503928|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33653301|PMID:33670479|PMID:33691754|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33850850|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33978741|PMID:34008015|PMID:34022715|PMID:34026625|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34097676|PMID:34101484|PMID:34130653|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34326328|PMID:34326862|PMID:34350294|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34452747|PMID:34490083|PMID:34500047|PMID:34503154|PMID:34506673|PMID:34541275|PMID:34567246|PMID:34570441|PMID:34572941|PMID:34584710|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34707284|PMID:34717758|PMID:34741701|PMID:34761457|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34933735|PMID:34949660|PMID:34970085|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35087763|PMID:35101336|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35218119|PMID:35220195|PMID:35230882|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35326540|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35460704|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35654374|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35768791|PMID:35778884|PMID:35834759|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35892882|PMID:35912982|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35982159|PMID:35988656|PMID:36045058|PMID:36091166|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36290365|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36493725|PMID:36495689|PMID:36537080|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36612041|PMID:36623239|PMID:36627197|PMID:36672847|PMID:36717774|PMID:36720553|PMID:36721989|PMID:36732629|PMID:36775216
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:36785489|PMID:36833268|PMID:36845387|PMID:36853301|PMID:36881271|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36999648|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37116400|PMID:37118955|PMID:37173992|PMID:37216690|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37536918|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37760409|PMID:37809048|PMID:37842866|PMID:37851290|PMID:37901334|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38075165|PMID:38114467|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38271184|PMID:38300310|PMID:38308423|PMID:38349998|PMID:38350919|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38496821|PMID:38509102|PMID:38520597|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38650031|PMID:38652475|PMID:38658784|PMID:38685107|PMID:38709234|PMID:38741424|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38806232|PMID:38843470|PMID:38874686|PMID:38912178|PMID:38922859|PMID:38960732|PMID:39001544|PMID:39041507|PMID:39062721|PMID:39096911|PMID:39115191|PMID:39142283|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39281752|PMID:39335746|PMID:39375938|PMID:39402389|PMID:39438962|PMID:39440754|PMID:39448951|PMID:39451174|PMID:39488595|PMID:39541563|PMID:39733403|PMID:39779848|PMID:39779857|PMID:39923681|PMID:40027238|PMID:40068381|PMID:40209283|PMID:40232841|PMID:40249378|PMID:40257527|PMID:40413188|PMID:40531958|PMID:40664060|PMID:40769711|PMID:40851390|PMID:41412794|PMID:41699384|PMID:7|PMID:7436117|PMID:8415037|PMID:8451181|PMID:8524414|PMID:8589730|PMID:8640236|PMID:8665505|PMID:8673091|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9200354|PMID:9361038|PMID:9405383|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9625424|PMID:9654203|PMID:9667259|PMID:9760198|PMID:9761393|PMID:9836472|PMID:9840533|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:17301269|PMID:17308087|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17413421|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17592676|PMID:17636422|PMID:17661168|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18212739|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18330910|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18439106|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18528753|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18752448|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18951446|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19070627|PMID:19179552|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19656164|PMID:19656415|PMID:19714488|PMID:19747923|PMID:19763152|PMID:19795481|PMID:19805903|PMID:19818148|PMID:19861517|PMID:19875419|PMID:19894111|PMID:1990134|PMID:19941162|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20122277|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20301575|PMID:20307669|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20435227|PMID:20450923|PMID:20507642|PMID:20513136|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20652400|PMID:20683152|PMID:20684611|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20815029|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21601571|PMID:21613821|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21895635|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:2204289|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22430443|PMID:22434521|PMID:22438049|PMID:22460208|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22544547|PMID:22578220|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22829013|PMID:22848303|PMID:22874498|PMID:22875147|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22923021|PMID:22962691
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:1|PMID:10091212|PMID:10323242|PMID:10359546|PMID:10363970|PMID:10373512|PMID:10399947|PMID:1044354|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10551859|PMID:10570174|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10790213|PMID:10800284|PMID:10815905|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10972993|PMID:10978364|PMID:10980621|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11284040|PMID:11304778|PMID:11336395|PMID:11389159|PMID:11391658|PMID:11430722|PMID:11447276|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710890|PMID:11754111|PMID:11759652|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11844822|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11904319|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11948477|PMID:11950811|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12112655|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:12385017|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12519945|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624724|PMID:12649099|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673801|PMID:12698193|PMID:12747142|PMID:12750261|PMID:12750298|PMID:12759930|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12915460|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14973102|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15475941|PMID:15519522|PMID:15533909|PMID:15535929|PMID:15548363|PMID:15548676|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15766593|PMID:15800311|PMID:15801311|PMID:15806175|PMID:15858120|PMID:15863663|PMID:15868448|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16389418|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16550498|PMID:16551709|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16939956|PMID:16949048|PMID:16950820|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17026620|PMID:17027500|PMID:17063270|PMID:17063271|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17216544|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:22970155|PMID:22977638|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23099436|PMID:23108138|PMID:23146383|PMID:23165508|PMID:23179793|PMID:23192360|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23315985|PMID:23320992|PMID:23328489|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23615697|PMID:23633455|PMID:23635950|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23729402|PMID:23747895|PMID:23754601|PMID:23767878|PMID:2377269|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24123850|PMID:24131973|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24729269|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24772314|PMID:24793135|PMID:24814045|PMID:24817641|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24884479|PMID:24884828|PMID:24896180|PMID:24916970|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25062964|PMID:25066186|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25233892|PMID:25236687|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25282148|PMID:25303977|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25652403|PMID:25673166|PMID:25678442|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25833843|PMID:25859162|PMID:25863477|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26243651|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402875|PMID:26439132|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26633542|PMID:26635394|PMID:26659639|PMID:26681312|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:26740091|PMID:26740259|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:26846091|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27009842|PMID:27052656|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27208206|PMID:27211102|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27303907|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27469594|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27535533|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27670257|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27862952|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28028924|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28259746|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28357044|PMID:28392550|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28591715|PMID:28595730|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28673926|PMID:28678401|PMID:28680148|PMID:28687971|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28852190|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28975465|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29398457|PMID:29409476|PMID:29416752|PMID:29416916|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29905759|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29929473|PMID:29936257
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30051098|PMID:30054569|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30154229|PMID:30159786|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30212499|PMID:30214240|PMID:30214756|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263132|PMID:30267214|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30472649|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30583724|PMID:30588330|PMID:30601186|PMID:30606148|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30623411|PMID:30625039|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30825404|PMID:30832263|PMID:30836094|PMID:30840204|PMID:30850667|PMID:30865812|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30947698|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31002019|PMID:31019283|PMID:31026599|PMID:31050813|PMID:31060517|PMID:31060593|PMID:31065452|PMID:31076742|PMID:3108138|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227566|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31484976|PMID:31497750|PMID:31512090|PMID:31514334|PMID:31528241|PMID:31537621|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31612916|PMID:31631483|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31723001|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31786208|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31857723|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31925297|PMID:31937788|PMID:31942411|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32012241|PMID:32019277|PMID:32019284|PMID:32022259|PMID:32028173|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32064343|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32164353|PMID:32170000|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32286328|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32354124|PMID:32354836|PMID:32365798|PMID:32375709|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:32554602|PMID:32563252|PMID:32566972|PMID:32579544|PMID:32581362|PMID:32599251|PMID:32606146|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32720318|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32773770|PMID:32776218|PMID:32778078|PMID:32778766|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32868316|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32933947|PMID:32939053|PMID:32957395|PMID:32959997|PMID:32971473|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32992489|PMID:32994724|PMID:33007869|PMID:33008098|PMID:33010199|PMID:33011440|PMID:33020491|PMID:33020649|PMID:33047316|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33127389|PMID:3313277|PMID:33151324|PMID:33193653|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33293522|PMID:33298767|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33439686|PMID:33461583|PMID:33466630|PMID:33469799|PMID:33471991|PMID:33476590|PMID:33479248|PMID:33484353|PMID:33503928|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33670479|PMID:33691754|PMID:33710808|PMID:33720054|PMID:33726785|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33801055|PMID:33804961|PMID:33808557|PMID:33842585|PMID:33850299|PMID:33850850|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33978741|PMID:34022715|PMID:34026625|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34130653|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34308104|PMID:34326328|PMID:34326862|PMID:34359619|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34452747|PMID:34490083|PMID:34500047|PMID:34506673|PMID:34541275|PMID:34570441|PMID:34572941|PMID:34584710|PMID:34594355|PMID:34597585|PMID:34598035|PMID:34645131|PMID:34653963|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34659905|PMID:34660253|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34697207|PMID:34707284|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34761457|PMID:34828379|PMID:34884835|PMID:34906479|PMID:34917121|PMID:34933735|PMID:34949660|PMID:34979999|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35050751|PMID:35087763|PMID:35101336|PMID:35115620|PMID:35127508|PMID:35150867|PMID:35166990|PMID:35171259|PMID:35190686|PMID:35218119|PMID:35220195|PMID:35230882|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35334704|PMID:35353237|PMID:35356428|PMID:35365640|PMID:35382848|PMID:35402282|PMID:35406420|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35418818|PMID:35438911|PMID:35441217|PMID:35449021|PMID:35451682|PMID:35456488|PMID:35460704|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35641994|PMID:35654374|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35710434|PMID:35727495|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35761208|PMID:35762214|PMID:35778884|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35892882|PMID:35912982|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35982159|PMID:35988656|PMID:36011273|PMID:36045058|PMID:36091166|PMID:36113475|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36290365|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Familial breast-ovarian cancer 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:36404616|PMID:36413997|PMID:36446827|PMID:36451132|PMID:36471068|PMID:36493725|PMID:36495689|PMID:36537080|PMID:36555431|PMID:36557020|PMID:36561320|PMID:36605468|PMID:36612041|PMID:36627197|PMID:36717774|PMID:36720553|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36785489|PMID:36833268|PMID:36845387|PMID:36853301|PMID:36881271|PMID:36922933|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36980780|PMID:36988593|PMID:36999648|PMID:37013556|PMID:37060015|PMID:37067535|PMID:37118955|PMID:37173992|PMID:37216690|PMID:37239058|PMID:37240284|PMID:37264024|PMID:37277882|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37349538|PMID:37415201|PMID:37415649|PMID:37460658|PMID:37461096|PMID:37517399|PMID:37536918|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37725113|PMID:37731132|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37851290|PMID:37901334|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38069422|PMID:38114467|PMID:38136276|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38271184|PMID:38300310|PMID:38308423|PMID:38349998|PMID:38350919|PMID:38355628|PMID:38355834|PMID:38409497|PMID:38417439|PMID:38439815|PMID:38480854|PMID:38509102|PMID:38520597|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38650031|PMID:38652475|PMID:38658784|PMID:38685107|PMID:38709234|PMID:38741424|PMID:38781545|PMID:38785549|PMID:38795236|PMID:38843470|PMID:38874686|PMID:38912178|PMID:38922859|PMID:38960732|PMID:39001544|PMID:39041507|PMID:39062721|PMID:39096911|PMID:39115191|PMID:39142283|PMID:39187384|PMID:39194688|PMID:39256447|PMID:39281752|PMID:39335746|PMID:39375938|PMID:39402389|PMID:39438962|PMID:39440754|PMID:39448951|PMID:39451174|PMID:39488595|PMID:39541563|PMID:39733403|PMID:39779848|PMID:39779857|PMID:39923681|PMID:40027238|PMID:40068381|PMID:40209283|PMID:40232841|PMID:40249378|PMID:40257527|PMID:40413188|PMID:40531958|PMID:4055113|PMID:40664060|PMID:40769711|PMID:40851390|PMID:41172994|PMID:41412794|PMID:41699384|PMID:6683254|PMID:7436117|PMID:7924331|PMID:8415037|PMID:8451181|PMID:8524414|PMID:8589730|PMID:8640236|PMID:8665505|PMID:8673091|PMID:8840963|PMID:8896551|PMID:8988179|PMID:9042907|PMID:9126734|PMID:9126738|PMID:9133456|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9192668|PMID:9361038|PMID:9405383|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9585617|PMID:9625424|PMID:9654203|PMID:9667259|PMID:9760198|PMID:9761393|PMID:9771877|PMID:9836472|PMID:9840533|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5744	ovary serous adenocarcinoma		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ovarian Serous Surface Papillary Adenocarcinoma	PMID:16793542|PMID:18704680|PMID:25741868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:5750	endometrial serous adenocarcinoma	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:deletion: :6174delT	PMID:16650962|REF_RGD_ID:2289045
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:6039	uveal melanoma	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:22187320|REF_RGD_ID:9068467
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:6741	bilateral breast cancer		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer	PMID:25741868
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:7141	prostate small cell carcinoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Metastatic Prostate Small Cell Carcinoma	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:74	hematopoietic system disease		ISO	RGD:10247	D	RGD:9068941	20200609	RGD			PMID:16859999|REF_RGD_ID:11038791
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:7998	hyperthyroidism		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:8923	skin melanoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:15145354|PMID:20104584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28993434|PMID:29446198|PMID:29909963|PMID:30078507|PMID:32532514|PMID:34572941
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs206118, rs3752447, rs10492396 (human)	PMID:25243787|REF_RGD_ID:11344896
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2219	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:21748659|REF_RGD_ID:10053608
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:21741379|PMID:21952622|PMID:22711857|PMID:25085752|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:31158355|PMID:37922907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm of stomach	PMID:11802209|PMID:20104584|PMID:2377269|PMID:24156927|PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9000357	Male Breast Neoplasms	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:18042939|REF_RGD_ID:2289043
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9001239	Delayed Puberty		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:10882858|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11802209|PMID:12928470|PMID:15131399|PMID:16683254|PMID:19340607|PMID:20104584|PMID:20301425|PMID:24504028|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26586665|PMID:27433846|PMID:28324225|PMID:28492532|PMID:29446198|PMID:29625052|PMID:29922827|PMID:30702160|PMID:32073954|PMID:33471991|PMID:36149077|PMID:36451132
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9001733	Tinnitus		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10882858|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:18451181|PMID:18951446|PMID:20135345|PMID:21741379|PMID:21952622|PMID:22678057|PMID:22711857|PMID:24033266|PMID:25085752|PMID:25266736|PMID:25348012|PMID:25741868|PMID:26467025|PMID:27149842|PMID:27633797|PMID:28492532|PMID:29641532|PMID:30287823|PMID:30883245|PMID:31158355|PMID:31911673|PMID:33471991|PMID:34749799|PMID:36243179|PMID:36329109|PMID:37922907|PMID:39733403|PMID:39779848|PMID:40249378
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736254	D	RGD:9068941	20250424	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736254	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10417300|PMID:10449599|PMID:10464624|PMID:10550133|PMID:10570174|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10699917|PMID:10733239|PMID:10739756|PMID:10790213|PMID:11149425|PMID:11179017|PMID:11389159|PMID:11466700|PMID:11597388|PMID:11802209|PMID:11843247|PMID:11857748|PMID:11896095|PMID:11897832|PMID:12097290|PMID:12402332|PMID:12461697|PMID:12473589|PMID:12624152|PMID:12655567|PMID:12845657|PMID:12955716|PMID:14559878|PMID:14576434|PMID:14732925|PMID:15010701|PMID:15024741|PMID:15070707|PMID:15340362|PMID:15689453|PMID:15695382|PMID:15744030|PMID:15994883|PMID:16030099|PMID:16168118|PMID:16455195|PMID:16489001|PMID:16683254|PMID:16760289|PMID:16764716|PMID:16825431|PMID:17026620|PMID:17148771|PMID:17574839|PMID:17576681|PMID:17591843|PMID:17688236|PMID:17924331|PMID:17972171|PMID:18042939|PMID:18284688|PMID:18393245|PMID:18439106|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18704680|PMID:18783588|PMID:19016756|PMID:19043619|PMID:19188187|PMID:19241424|PMID:19530235|PMID:19574032|PMID:19620486|PMID:19654294|PMID:19656164|PMID:19941162|PMID:19941167|PMID:20033483|PMID:20104584|PMID:20167696|PMID:20216074|PMID:20301425|PMID:20608899|PMID:20736950|PMID:20858050|PMID:20887823|PMID:21120943|PMID:21138478|PMID:21205087|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21520333|PMID:21643751|PMID:21709188|PMID:21913181|PMID:21952622|PMID:21990134|PMID:2200631|PMID:22006311|PMID:22009639|PMID:22144684|PMID:22217648|PMID:22426013|PMID:22430266|PMID:22505045|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22923021|PMID:22970155|PMID:23096105|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23341105|PMID:23415752|PMID:23469205|PMID:23479189|PMID:23569316|PMID:23613520|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23940062|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24123850|PMID:24156927|PMID:24312913|PMID:24504028|PMID:24528374|PMID:24728189|PMID:24737347|PMID:24814045|PMID:24830819|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25111659|PMID:25136594|PMID:25186627|PMID:25330149|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25737278|PMID:25741868|PMID:25802882|PMID:25863477|PMID:25927356|PMID:25940717|PMID:25980754|PMID:26064523|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26360800|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26845104|PMID:26852130|PMID:26867194|PMID:27153395|PMID:27257965|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27836010|PMID:27989354|PMID:28008555|PMID:28039656|PMID:28152038|PMID:28176296|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28423363|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28616458|PMID:28692638|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28831036|PMID:28873162|PMID:28915716|PMID:28944232|PMID:28947987|PMID:28973083|PMID:28993434|PMID:29053726|PMID:29084914|PMID:29161300|PMID:29176636|PMID:29310832|PMID:29321669|PMID:29325860|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29506128|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29937315|PMID:29961768|PMID:29978187|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30274973|PMID:30287823|PMID:30309722|PMID:30322717|PMID:30489631|PMID:30548481|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30972954|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31263054|PMID:31263571|PMID:31360904|PMID:31396961|PMID:31444830|PMID:31447099|PMID:31567591|PMID:31589614|PMID:31742824|PMID:31825140|PMID:31837001|PMID:31843900
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32778078|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32923906|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33287145|PMID:33372952|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33670479|PMID:33801055|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34022715|PMID:34072659|PMID:34296289|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34657373|PMID:34680387|PMID:34687993|PMID:35264596|PMID:36623239|PMID:36988593|PMID:38417439|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9126738|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9192668|PMID:9536098|PMID:9585613|PMID:9758598
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736254	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:31843900|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32029870|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32164353|PMID:32190957|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32467295|PMID:32521533|PMID:32581362|PMID:32710294|PMID:32719484|PMID:32778078|PMID:32824581|PMID:32846166|PMID:32853339|PMID:32885271|PMID:32923906|PMID:32959997|PMID:33077847|PMID:33087929|PMID:33287145|PMID:33372952|PMID:33461583|PMID:33461977|PMID:33471991|PMID:33558524|PMID:33608381|PMID:33670479|PMID:33801055|PMID:33808557|PMID:33891299|PMID:33918338|PMID:34022715|PMID:34072659|PMID:34296289|PMID:34308366|PMID:34309133|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34657373|PMID:34680387|PMID:34687993|PMID:35264596|PMID:36623239|PMID:36988593|PMID:38417439|PMID:8075631|PMID:8524414|PMID:8589730|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9126738|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9150172|PMID:9192668|PMID:9536098|PMID:9585613|PMID:9758598
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:11389159|PMID:11802209|PMID:16455195|PMID:16683254|PMID:19656164|PMID:20104584|PMID:20301425|PMID:21952622|PMID:22762150|PMID:22798144|PMID:23569316|PMID:25330149|PMID:25741868|PMID:25863477|PMID:26287763|PMID:26467025|PMID:27836010|PMID:28008555|PMID:28492532|PMID:29446198|PMID:29915322|PMID:30287823|PMID:30322717|PMID:30702160|PMID:30972954|PMID:31396961|PMID:32019277|PMID:33113089|PMID:33471991|PMID:33558524|PMID:37804357|PMID:6683254
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:2219	D	RGD:9068941	20200609	RGD			PMID:16964288|REF_RGD_ID:1599505
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26295337|PMID:26467025|PMID:26543556|PMID:27433846|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:31892343|PMID:33471991|PMID:35451682|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26467025|PMID:26543556|PMID:27433846|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:31892343|PMID:33471991|PMID:35451682|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:11802209|PMID:20104584|PMID:2377269|PMID:24156927|PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9003539	Hyperacusis		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:10882858|PMID:21741379|PMID:21952622|PMID:22711857|PMID:25085752|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:29641532|PMID:30883245|PMID:31158355|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:11802209|PMID:15876480|PMID:16683254|PMID:18006916|PMID:18627636|PMID:19818148|PMID:20104584|PMID:21120943|PMID:22366370|PMID:22752604|PMID:24033266|PMID:24448499|PMID:24578186|PMID:24916970|PMID:25085752|PMID:25741868|PMID:25777348|PMID:25801821|PMID:25863477|PMID:26187060|PMID:26221963|PMID:26467025|PMID:26911350|PMID:27157322|PMID:28222693|PMID:28231738|PMID:28301460|PMID:28492532|PMID:28767289|PMID:28993434|PMID:29470806|PMID:29752822|PMID:30078507|PMID:30093976|PMID:30212499|PMID:30287823|PMID:30702160|PMID:30982232|PMID:31112341|PMID:31131967|PMID:31825140|PMID:31853058|PMID:31911673|PMID:32231682|PMID:32438681|PMID:32444794|PMID:32467295|PMID:33314489|PMID:33471991|PMID:34284872|PMID:35918668|PMID:36329109|PMID:37460658|PMID:37951914|PMID:40257527
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9004538	Hearing Loss		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17576681|PMID:19530235|PMID:21548014|PMID:22632462|PMID:23613520|PMID:25266736|PMID:25348012|PMID:25525159|PMID:25741868|PMID:26064523|PMID:26467025|PMID:27149842|PMID:27376475|PMID:28492532|PMID:30287823|PMID:31911673|PMID:36243179|PMID:40249378|PMID:9536098
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:10882858|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736254	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880342
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary Prostate Cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:1044354|PMID:10449599|PMID:10717622|PMID:10874312|PMID:10882858|PMID:10923033|PMID:11044354|PMID:11149425|PMID:11185744|PMID:11389159|PMID:11710890|PMID:11802209|PMID:11857749|PMID:11897832|PMID:11927503|PMID:11948123|PMID:12097290|PMID:12181777|PMID:12655567|PMID:12670525|PMID:12698193|PMID:12928470|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14973102|PMID:15024741|PMID:15070707|PMID:15131399|PMID:15235023|PMID:15365993|PMID:15645491|PMID:15766593|PMID:15887246|PMID:15937982|PMID:16030099|PMID:16115142|PMID:16170354|PMID:16199547|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16825431|PMID:16912212|PMID:16949048|PMID:17026620|PMID:17100994|PMID:17148771|PMID:17636422|PMID:17661168|PMID:17767707|PMID:17851763|PMID:17924331|PMID:17925560|PMID:18006916|PMID:18042939|PMID:18284688|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18703817|PMID:19043619|PMID:19241424|PMID:19340607|PMID:19353265|PMID:19491284|PMID:19530235|PMID:19620486|PMID:19656164|PMID:19818148|PMID:20033483|PMID:20104584|PMID:20135345|PMID:20301425|PMID:20858050|PMID:20927582|PMID:21120943|PMID:21218378|PMID:21305653|PMID:21324516|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21548014|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22109874|PMID:22217648|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22682623|PMID:22703879|PMID:22711857|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22970155|PMID:23479189|PMID:23569316|PMID:23704879|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24240112|PMID:24312913|PMID:24323938|PMID:24448238|PMID:24504028|PMID:24549055|PMID:24578186|PMID:24728189|PMID:24737347|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25085752|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25348012|PMID:25428789|PMID:25479140|PMID:25525159|PMID:25628955|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25741869|PMID:25863477|PMID:26026974|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26543556|PMID:26556299|PMID:26566862|PMID:26580448|PMID:26586665|PMID:26633542|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26757417|PMID:26834852|PMID:26845104|PMID:26852015|PMID:26920070|PMID:27149842|PMID:27276934|PMID:27352968|PMID:27433846|PMID:27633797|PMID:27836010|PMID:28008555|PMID:28049253|PMID:28127413|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28477318|PMID:28492532|PMID:28495237|PMID:28637432|PMID:28664506|PMID:28678401|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28783718|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29161300|PMID:29263802|PMID:29308099|PMID:29339979|PMID:29394989|PMID:29446198|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29915322|PMID:29922827|PMID:29997359|PMID:30068706|PMID:30212499|PMID:30254663|PMID:30287823|PMID:30322717|PMID:30374176|PMID:30630528|PMID:30702160|PMID:30716324|PMID:30720243|PMID:30865812|PMID:30877237|PMID:30883245|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31214711|PMID:31263054|PMID:31264438|PMID:31336956|PMID:31396961|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31528241|PMID:31658756|PMID:31753525|PMID:31794323|PMID:31837001|PMID:31843900|PMID:31853058|PMID:31892343|PMID:31911673|PMID:31948886|PMID:31957001|PMID:32019277|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32123317|PMID:32256484|PMID:32318955|PMID:32341426|PMID:32380732|PMID:32393813|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32482800|PMID:32510664
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer | ClinVar Annotator: match by term: Hereditary Prostate Cancer | ClinVar Annotator: match by term: Hereditary prostate cancer	PMID:32522261|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32817299|PMID:32832836|PMID:32853339|PMID:32879886|PMID:32939053|PMID:32980867|PMID:33087929|PMID:33193653|PMID:33293522|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33753322|PMID:33804961|PMID:33850299|PMID:34046351|PMID:34063308|PMID:34178674|PMID:34196900|PMID:34250417|PMID:34413315|PMID:34452747|PMID:34598035|PMID:34645131|PMID:34663891|PMID:34741701|PMID:34749799|PMID:35022142|PMID:35260348|PMID:35264596|PMID:35402282|PMID:35438911|PMID:35451682|PMID:35681111|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35944511|PMID:36149077|PMID:36243179|PMID:36329109|PMID:36370215|PMID:36451132|PMID:36605468|PMID:36721989|PMID:36732629|PMID:36977404|PMID:36988593|PMID:37216690|PMID:37415649|PMID:37719058|PMID:37804357|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38308423|PMID:38520597|PMID:39142283|PMID:39194688|PMID:39438962|PMID:39488595|PMID:39733403|PMID:39779848|PMID:39779857|PMID:40249378|PMID:6683254|PMID:8988179|PMID:9042907
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10978364|PMID:11400546|PMID:11897832|PMID:12655567|PMID:12955716|PMID:14559878|PMID:15168169|PMID:16115142|PMID:16683254|PMID:16758124|PMID:16905680|PMID:17925560|PMID:18465347|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19530235|PMID:20033483|PMID:20104584|PMID:20736950|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23096105|PMID:23479189|PMID:23929434|PMID:24156927|PMID:24556621|PMID:24728189|PMID:24737347|PMID:24884479|PMID:24916970|PMID:25085752|PMID:25428789|PMID:25452441|PMID:25476495|PMID:25741868|PMID:25980754|PMID:26026974|PMID:26287763|PMID:26467025|PMID:26543556|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27741520|PMID:27993330|PMID:28008555|PMID:28294317|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29088781|PMID:29339979|PMID:29371908|PMID:29446198|PMID:29907814|PMID:30287823|PMID:31263054|PMID:31325073|PMID:31853058|PMID:31892343|PMID:31957001|PMID:32318955|PMID:32438681|PMID:32832836|PMID:33471991|PMID:33653301|PMID:34196900|PMID:34567246|PMID:35326540|PMID:35451682|PMID:35464868|PMID:35980532|PMID:36232564|PMID:36329109|PMID:36370215|PMID:36988593|PMID:37310942|PMID:37922907|PMID:38922859|PMID:39779857|PMID:8988179
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:12655567|PMID:12955716|PMID:14559878|PMID:16115142|PMID:16758124|PMID:17925560|PMID:19241424|PMID:19530235|PMID:20033483|PMID:20104584|PMID:21508395|PMID:22109874|PMID:22682623|PMID:23479189|PMID:23929434|PMID:24737347|PMID:25085752|PMID:25741868|PMID:26026974|PMID:26467025|PMID:26543556|PMID:27433846|PMID:28008555|PMID:28477318|PMID:28492532|PMID:28724667|PMID:28993434|PMID:29446198|PMID:31892343|PMID:33471991|PMID:35451682|PMID:36370215
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36329109
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16528604
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30760827
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31948886|PMID:31954625|PMID:31957001|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32599251|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33479248|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34046351|PMID:34063308|PMID:3413277|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34749799|PMID:35150867|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:35150867|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:1169856|PMID:11698567|PMID:11710835|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30199306|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33978741|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16455195|PMID:16489001|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18414213|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:18974781|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23535825|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23593120|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23717510|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23867111|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24359602|PMID:24372583|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24584348|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24771903|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24830819|PMID:24835992|PMID:24852375|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24941967|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25320599
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25751625|PMID:25777348|PMID:25782689|PMID:25793373|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25838448|PMID:25846551|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25919761|PMID:25925381|PMID:25927356|PMID:25937444|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26264438|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26510858|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27074266|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27392074|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27424552|PMID:27425403|PMID:27428751|PMID:27432226|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27632928|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27742414|PMID:27751358|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28087643|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28152060|PMID:28159408|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28377418|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28502252|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591191|PMID:28591715|PMID:28604730|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29136510|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29382703|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29531215|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29580235|PMID:29596542|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29688369|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29767749|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30181556|PMID:30185652|PMID:30192042|PMID:30199306|PMID:30204945
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30207912|PMID:30212499|PMID:30233647|PMID:30254663|PMID:30262796|PMID:30263092|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30418626|PMID:30425037|PMID:30425093|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30541756|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30672594|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30840204|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31039815|PMID:31060523|PMID:31065452|PMID:31069257|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31174203|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31358837|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:3146935|PMID:31472684|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31780696|PMID:31782247|PMID:31794323|PMID:31811167|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32104210|PMID:32114502|PMID:32123317|PMID:32160537|PMID:32164585|PMID:32165993|PMID:32194909|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32354836|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32483276|PMID:32504368|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32587276|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32939053|PMID:32947577|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33015532|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33087175|PMID:33193653|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33428613|PMID:33462368|PMID:33466630|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33478551|PMID:33479248|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33747920|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33850299|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33977503|PMID:33978741|PMID:34026625|PMID:34034685
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34046351|PMID:34063308|PMID:34072659|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34242281|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34490083|PMID:34503154|PMID:34541275|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34749799|PMID:34771991|PMID:34884835|PMID:35150867|PMID:35264596|PMID:35464868|PMID:35535697|PMID:35886069|PMID:3983145|PMID:4055113|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16168123|PMID:16170354|PMID:16199547|PMID:16205630|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16261408|PMID:16284991|PMID:16389418|PMID:16417627|PMID:16418514|PMID:16455195|PMID:16489001|PMID:16495342|PMID:16528604|PMID:16539696|PMID:16541310|PMID:16550498|PMID:16574953|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16741161|PMID:16758124|PMID:16760289|PMID:16764716|PMID:16792514|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16914443|PMID:16920162|PMID:16931905|PMID:16949048|PMID:16978908|PMID:16982466|PMID:16998791|PMID:17011978|PMID:17011979|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17027500|PMID:17063265|PMID:17063270|PMID:17063271|PMID:17087817|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17289875|PMID:17301269|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17413421|PMID:17419707|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17565157|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17591940|PMID:17592676|PMID:17624602|PMID:17636422|PMID:17657584|PMID:17661168|PMID:17679929|PMID:17688236|PMID:17700570|PMID:17724471|PMID:17761984|PMID:17767707|PMID:17826769|PMID:17850627|PMID:17851763|PMID:17899372|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17971607|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060494|PMID:18092194|PMID:18094411|PMID:18097605|PMID:18176857|PMID:18182601|PMID:18182994|PMID:18214034|PMID:18256760|PMID:18257128|PMID:18264087|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18307534|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18393245|PMID:18403564|PMID:18418466|PMID:18424508|PMID:1843150|PMID:18431501|PMID:18439106|PMID:18442100|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18500671|PMID:18528753|PMID:18547621|PMID:18559594|PMID:18563556|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18657973|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704680|PMID:18712473|PMID:18724707|PMID:18779604|PMID:18783588|PMID:18819001|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18855126|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18955455|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19047089|PMID:19064968|PMID:19070627|PMID:19179552|PMID:19188187|PMID:19200354|PMID:19229607|PMID:19241424|PMID:19267246|PMID:19288190|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19377795|PMID:19423647|PMID:19471317|PMID:19473207|PMID:19478387|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19540122|PMID:19542536|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19649703|PMID:19654294|PMID:19656164|PMID:19656415|PMID:19706752|PMID:19714488|PMID:19747923|PMID:19787003|PMID:19795481|PMID:19796187|PMID:19799798|PMID:19805903|PMID:19806429|PMID:19818148|PMID:19861517|PMID:19863560|PMID:19875419|PMID:1990134|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949853|PMID:19949876|PMID:19967274|PMID:19996028|PMID:20002770|PMID:20020529|PMID:20033483|PMID:20041885|PMID:20043088|PMID:20051372|PMID:20054658|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20174566|PMID:20195775|PMID:20201734|PMID:20215541|PMID:20216074|PMID:20223018|PMID:20233483|PMID:20301425|PMID:20353281|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20455026|PMID:20507642|PMID:20513136|PMID:20567915|PMID:20587410|PMID:20589654|PMID:20600922|PMID:20608899|PMID:20609467|PMID:20609468|PMID:20614180|PMID:20616022|PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20807450|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20887823|PMID:20927582|PMID:20960027|PMID:20960228|PMID:21063910|PMID:21119368|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1|PMID:10070953|PMID:10188893|PMID:10227398|PMID:10323242|PMID:10359546|PMID:10373512|PMID:10399947|PMID:10417300|PMID:10433620|PMID:10449599|PMID:10451700|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10486320|PMID:10498392|PMID:10505028|PMID:10506595|PMID:10550133|PMID:10551859|PMID:10570174|PMID:10595255|PMID:10615237|PMID:10638982|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10690392|PMID:10699917|PMID:10717622|PMID:10728701|PMID:10733239|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790213|PMID:10800284|PMID:10807692|PMID:10815905|PMID:10874312|PMID:10882858|PMID:10899649|PMID:10923033|PMID:10952777|PMID:10969800|PMID:10978364|PMID:10995809|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11056688|PMID:11062481|PMID:11090354|PMID:11091690|PMID:11102977|PMID:11102978|PMID:11106241|PMID:11106360|PMID:11139248|PMID:11139249|PMID:11149425|PMID:11158174|PMID:11170288|PMID:11170890|PMID:11179017|PMID:11180606|PMID:11185744|PMID:11207042|PMID:11239456|PMID:11240689|PMID:11241844|PMID:11251181|PMID:11267991|PMID:11304778|PMID:11307153|PMID:11309337|PMID:11336395|PMID:11359068|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11430722|PMID:11447276|PMID:11466700|PMID:11504767|PMID:11556836|PMID:11595708|PMID:11597388|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11812938|PMID:11836363|PMID:11843247|PMID:11844822|PMID:11857748|PMID:11861370|PMID:11873550|PMID:11879560|PMID:11890985|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11929857|PMID:11938448|PMID:11948123|PMID:11950811|PMID:11972384|PMID:11979449|PMID:12036913|PMID:12048272|PMID:12065746|PMID:12070551|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12112655|PMID:12114492|PMID:12142080|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12228710|PMID:12237285|PMID:1232165|PMID:1234|PMID:12373604|PMID:12385650|PMID:12402332|PMID:12414830|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12461697|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12556369|PMID:12569143|PMID:12601471|PMID:12606139|PMID:12618335|PMID:12624152|PMID:12624724|PMID:12649099|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12655574|PMID:12670525|PMID:12672316|PMID:12673801|PMID:12684407|PMID:12698193|PMID:12750261|PMID:12750298|PMID:12754708|PMID:12759930|PMID:12774040|PMID:12815053|PMID:12845657|PMID:12872265|PMID:12900794|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12955719|PMID:12960223|PMID:12967658|PMID:1432501|PMID:14507240|PMID:14517958|PMID:14520695|PMID:14520696|PMID:14531499|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14574163|PMID:14574168|PMID:14576434|PMID:14647210|PMID:14647413|PMID:14647438|PMID:14662532|PMID:14670928|PMID:14672397|PMID:14684619|PMID:14722926|PMID:14732925|PMID:14735197|PMID:14746861|PMID:14757868|PMID:14757871|PMID:14955690|PMID:14973102|PMID:14981104|PMID:14985394|PMID:15004464|PMID:15010701|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15070707|PMID:15115758|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15146557|PMID:15158118|PMID:15168169|PMID:15172125|PMID:15172753|PMID:15217494|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15317758|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15519522|PMID:15533909|PMID:15548363|PMID:15571962|PMID:15617999|PMID:15635067|PMID:15642173|PMID:15645491|PMID:15689453|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15766593|PMID:15799620|PMID:15800311|PMID:15800615|PMID:15806175|PMID:15858120|PMID:15876480|PMID:15880509|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15937124|PMID:15937982|PMID:15944772|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047333|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16141007|PMID:16162645|PMID:16168118
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28608266|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:35150867|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35736817|PMID:35753294|PMID:35886069|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25974703|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291|PMID:27553368
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29387807|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30430339|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31586400|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32165993|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34680387|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35886069|PMID:35980532|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674|PMID:24963051
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25326637|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26833330|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31488816|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229|PMID:32318955|PMID:32321997
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35402282|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36290365|PMID:36329109|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27553368|PMID:27561088|PMID:27600092|PMID:27616075|PMID:27621404|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683039|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27760322|PMID:27767231|PMID:27798748|PMID:27803004|PMID:27831900|PMID:27836010|PMID:27852271|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974047|PMID:27974384|PMID:27978560|PMID:27989354|PMID:28008555|PMID:28024868|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28087643|PMID:28090007|PMID:28091860|PMID:28102861|PMID:28111427|PMID:28123851|PMID:28127413|PMID:28132688|PMID:28135145|PMID:28152038|PMID:28159408|PMID:28176296|PMID:28179634|PMID:28184943|PMID:28184945|PMID:28185119|PMID:28194609|PMID:28195393|PMID:28195569|PMID:28199346|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28223274|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28284943|PMID:28288110|PMID:28294317|PMID:28299801|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28346442|PMID:28349240|PMID:28351343|PMID:28357044|PMID:28364669|PMID:28392550|PMID:28419251|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28538113|PMID:28541631|PMID:28569218|PMID:28591715|PMID:28616458|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28655807|PMID:28657667|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28687356|PMID:28687971|PMID:28692638|PMID:28704513|PMID:28706299|PMID:28713573|PMID:28714951|PMID:28720843|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28744403|PMID:28758972|PMID:28765325|PMID:28767289|PMID:28779219|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28825143|PMID:28828701|PMID:28831036|PMID:28843361|PMID:28857155|PMID:28868023|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28915716|PMID:28918466|PMID:28943953|PMID:28944232|PMID:28945843|PMID:28947987|PMID:28961279|PMID:28973083|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021619|PMID:29021639|PMID:29025590|PMID:29036293|PMID:29044207|PMID:29053726|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29106415|PMID:29116469|PMID:29126202|PMID:29137355|PMID:29146900|PMID:29161300|PMID:29164420|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255376|PMID:29263802|PMID:29280214|PMID:2928257|PMID:29288066|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29316426|PMID:29321669|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29338080|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29351780|PMID:29356034|PMID:29356578|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29383094|PMID:29394989|PMID:29395620|PMID:29398457|PMID:29409476|PMID:29416040|PMID:29416752|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29439820|PMID:29446198|PMID:29464067|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29489754|PMID:29492181|PMID:29506128|PMID:29534594|PMID:29558370|PMID:29560538|PMID:29566657|PMID:29575201|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29610387|PMID:29625052|PMID:29625053|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29723101|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29766361|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29791287|PMID:29797126|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29849630|PMID:29854292|PMID:29860059|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29891941|PMID:29906251|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21138478|PMID:21147080|PMID:21156238|PMID:21184276|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21279724|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21465317|PMID:21470549|PMID:21497495|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21533266|PMID:21548014|PMID:21553119|PMID:21559243|PMID:21598239|PMID:21601571|PMID:21607582|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21719596|PMID:21720365|PMID:21725594|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21789034|PMID:21810505|PMID:21895635|PMID:21913181|PMID:219131812|PMID:21918853|PMID:21918854|PMID:21934105|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22044689|PMID:22072316|PMID:22085629|PMID:22109874|PMID:22126563|PMID:22144684|PMID:22160602|PMID:22193408|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22430443|PMID:22460208|PMID:22461402|PMID:22476429|PMID:22486713|PMID:22495311|PMID:22505045|PMID:22527104|PMID:22535016|PMID:22578220|PMID:22585170|PMID:22632462|PMID:22638694|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22722839|PMID:22729890|PMID:22739995|PMID:22752604|PMID:22753590|PMID:22753899|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22810696|PMID:22811390|PMID:22848303|PMID:22863191|PMID:22864640|PMID:22866093|PMID:22869870|PMID:22874498|PMID:22875147|PMID:22875640|PMID:22895193|PMID:22895246|PMID:22908307|PMID:22913592|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22923510|PMID:22962691|PMID:22970155|PMID:22977638|PMID:22984553|PMID:22995991|PMID:23028338|PMID:23034506|PMID:23035815|PMID:23056405|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23110154|PMID:23146383|PMID:23165508|PMID:23179792|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23285130|PMID:23315985|PMID:23318356|PMID:23318652|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23348723|PMID:23397983|PMID:23415752|PMID:234495|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23524863|PMID:23525077|PMID:23531862|PMID:23535729|PMID:23555315|PMID:23569310|PMID:23569316|PMID:23583677|PMID:23593081|PMID:23613520|PMID:23613828|PMID:23615697|PMID:23621881|PMID:23628597|PMID:23633455|PMID:23635950|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23729402|PMID:23747895|PMID:23749302|PMID:23754601|PMID:23767878|PMID:23772696|PMID:23857704|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23934793|PMID:23940062|PMID:23942203|PMID:23960188|PMID:23961350|PMID:23966579|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24121792|PMID:24123850|PMID:24131973|PMID:24132290|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24163242|PMID:24204383|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24259538|PMID:24285729|PMID:24301060|PMID:24302565|PMID:24312913|PMID:24321281|PMID:24323938|PMID:24326041|PMID:24333842|PMID:24337145|PMID:24348212|PMID:24372583|PMID:24395671|PMID:24448238|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24578176|PMID:24578186|PMID:24586880|PMID:24607278|PMID:24618965|PMID:24705251|PMID:24728189|PMID:24728327|PMID:24728577|PMID:24735155|PMID:24736080|PMID:24737347|PMID:24755471|PMID:24764757|PMID:24772314|PMID:24814045|PMID:24817641|PMID:24824029|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24959366|PMID:24961674
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24963051|PMID:24963353|PMID:25007954|PMID:25017803|PMID:25036526|PMID:25058500|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25112434|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25233892|PMID:25236687|PMID:25249249|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25274553|PMID:25282148|PMID:25303977|PMID:25320599|PMID:25330149|PMID:25342642|PMID:25344691|PMID:25348012|PMID:25351205|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415225|PMID:25415331|PMID:25428384|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25504618|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25557953|PMID:25569433|PMID:25583207|PMID:25583476|PMID:25583493|PMID:25586199|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25722345|PMID:25737278|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25801821|PMID:25802882|PMID:25827447|PMID:25846551|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25864590|PMID:25877686|PMID:25877891|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25916844|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25971625|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26004055|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26110843|PMID:26137147|PMID:26145171|PMID:26147798|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26182300|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26214590|PMID:26219728|PMID:26221963|PMID:26225655|PMID:26243651|PMID:26250392|PMID:26269718|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26315209|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26360800|PMID:26402249|PMID:26402875|PMID:26436112|PMID:26439132|PMID:26440929|PMID:26455428|PMID:26467025|PMID:26483394|PMID:26489468|PMID:26497743|PMID:26517685|PMID:26530882|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26546047|PMID:26552643|PMID:26556299|PMID:26564481|PMID:26566278|PMID:26566862|PMID:26576347|PMID:26577449|PMID:26580448|PMID:26586665|PMID:2661312|PMID:26625824|PMID:26633542|PMID:26635394|PMID:26657402|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681674|PMID:26681678|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26692440|PMID:26699384|PMID:26709275|PMID:26718727|PMID:26724258|PMID:26733283|PMID:2673801|PMID:26740091|PMID:26740259|PMID:26740942|PMID:26745875|PMID:26757417|PMID:26757435|PMID:26761715|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26867194|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26920070|PMID:26933808|PMID:26941049|PMID:26968956|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27000661|PMID:27003155|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083775|PMID:27084275|PMID:27124784|PMID:27125725|PMID:27150160|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165003|PMID:27165126|PMID:27165220|PMID:27167707|PMID:27176796|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27221827|PMID:27221885|PMID:27223485|PMID:27225637|PMID:27225819|PMID:27257965|PMID:27271530|PMID:27273131|PMID:27276934|PMID:27300552|PMID:27322732|PMID:27328445|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27406733|PMID:27425403|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27486019|PMID:27490902|PMID:27495310|PMID:27498913|PMID:27516001|PMID:27527004|PMID:27535533|PMID:27537391|PMID:27553291
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079|PMID:32300229
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35698740|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35886069|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29915322|PMID:29922827|PMID:29928469|PMID:29929473|PMID:29936257|PMID:29937315|PMID:29945567|PMID:29958926|PMID:29961768|PMID:29969168|PMID:29978187|PMID:29983880|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30050867|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30086788|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30113427|PMID:30122538|PMID:30128899|PMID:30130155|PMID:30131383|PMID:30151275|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30174293|PMID:30175445|PMID:30181556|PMID:30185652|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207912|PMID:30212499|PMID:30214756|PMID:30217213|PMID:30233647|PMID:30254663|PMID:30257646|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30267214|PMID:30267352|PMID:30274973|PMID:30286154|PMID:30287823|PMID:30309222|PMID:30309722|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30340782|PMID:30348637|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410429|PMID:30410870|PMID:30415210|PMID:30425037|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30472649|PMID:30487518|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30603682|PMID:30606148|PMID:30609409|PMID:30611917|PMID:30612635|PMID:30613824|PMID:30613976|PMID:30620386|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30635808|PMID:30640733|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30675319|PMID:30683709|PMID:30696104|PMID:30702160|PMID:30706003|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30742731|PMID:30760827|PMID:30787465|PMID:30792206|PMID:30825404|PMID:30832263|PMID:30839285|PMID:30840204|PMID:30875412|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30995915|PMID:31002019|PMID:31019283|PMID:31039815|PMID:31050813|PMID:31060523|PMID:31060593|PMID:31065452|PMID:3108138|PMID:31090900|PMID:31102422|PMID:31112341|PMID:31112363|PMID:31125106|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31143373|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31227342|PMID:31228304|PMID:31248605|PMID:31263054|PMID:31263500|PMID:31263571|PMID:31264438|PMID:31269945|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31358837|PMID:31360904|PMID:31368036|PMID:31391296|PMID:31396961|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31446535|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:3146935|PMID:31469826|PMID:31472684|PMID:31477031|PMID:31497750|PMID:31512090|PMID:31528241|PMID:31537621|PMID:31550176|PMID:31558676|PMID:31565484|PMID:31569370|PMID:31585108|PMID:31589614|PMID:31608315|PMID:31631483|PMID:31640893|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31706072|PMID:31721094|PMID:31721781|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780696|PMID:31782247|PMID:31786208|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31875949|PMID:31883735|PMID:31892343|PMID:31907376|PMID:31907386|PMID:31911633|PMID:31911673|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31948886|PMID:31949930|PMID:31954625|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32002120|PMID:32022259|PMID:32029870|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32058061|PMID:32059136|PMID:32066459|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32098980|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32125938|PMID:32132887|PMID:32133419|PMID:32160537|PMID:32164353|PMID:32164585|PMID:32190957|PMID:32194909|PMID:32206145|PMID:32211327|PMID:32231682|PMID:32255556|PMID:32284662|PMID:32286328|PMID:32295079
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32300229|PMID:32318955|PMID:32321997|PMID:32338768|PMID:32341426|PMID:32354124|PMID:32354836|PMID:32356124|PMID:32359129|PMID:32365798|PMID:32377194|PMID:32377563|PMID:32380732|PMID:32383162|PMID:32393398|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32454976|PMID:32455662|PMID:32467295|PMID:32468491|PMID:32482800|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32548945|PMID:32554602|PMID:32563252|PMID:32566972|PMID:32570879|PMID:32576986|PMID:32579544|PMID:32581362|PMID:32587276|PMID:32596633|PMID:32599251|PMID:32606146|PMID:32613071|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32659497|PMID:32694901|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32806537|PMID:32812259|PMID:32814805|PMID:32817299|PMID:32820175|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32853339|PMID:32854451|PMID:32862574|PMID:32866190|PMID:32875559|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32894085|PMID:32906206|PMID:32914019|PMID:32918181|PMID:32923906|PMID:32939053|PMID:32947577|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32984025|PMID:32986223|PMID:32988965|PMID:32994724|PMID:33008098|PMID:33010199|PMID:33015532|PMID:33020491|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33077847|PMID:33078592|PMID:33087175|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33172502|PMID:33193653|PMID:33230308|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33302456|PMID:33309985|PMID:33314489|PMID:33372952|PMID:33376937|PMID:33399082|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33462368|PMID:33466630|PMID:33468216|PMID:33469799|PMID:33471974|PMID:33471991|PMID:33476590|PMID:33478551|PMID:33479248|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33672545|PMID:33720054|PMID:33726785|PMID:33731496|PMID:33747920|PMID:33753322|PMID:33758026|PMID:33773534|PMID:33773808|PMID:33780288|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33854378|PMID:33868589|PMID:33875706|PMID:33888336|PMID:33891299|PMID:33893315|PMID:33918338|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33970096|PMID:33977503|PMID:33978741|PMID:34008015|PMID:34026625|PMID:34034685|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34101484|PMID:3413277|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34242281|PMID:34250417|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34308104|PMID:34308366|PMID:34309133|PMID:34326862|PMID:34350294|PMID:34399810|PMID:34413315|PMID:34445631|PMID:34449592|PMID:34490083|PMID:34503154|PMID:34504103|PMID:34541275|PMID:34548921|PMID:34567246|PMID:34572941|PMID:34597585|PMID:34616674|PMID:34645131|PMID:34658299|PMID:34659905|PMID:34680387|PMID:34687993|PMID:34697207|PMID:34709755|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34771991|PMID:34828379|PMID:34884835|PMID:34917121|PMID:34930165|PMID:34979999|PMID:35039564|PMID:35050751|PMID:35150867|PMID:35171259|PMID:35205643|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35353237|PMID:35382848|PMID:35402282|PMID:35418818|PMID:35428255|PMID:35438911|PMID:35456488|PMID:35464868|PMID:35472165|PMID:35535697|PMID:35665744|PMID:35666082|PMID:35693198|PMID:35698740|PMID:35727495|PMID:35731312|PMID:35736817|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35886069|PMID:35918668|PMID:35979650|PMID:35980532|PMID:36011273|PMID:36200007|PMID:36232564|PMID:36290365|PMID:36329109|PMID:36367610|PMID:36605468|PMID:36977404|PMID:36988593|PMID:3983145|PMID:4055113|PMID:4301060|PMID:6295337|PMID:7924331|PMID:8075631|PMID:8415037|PMID:8524414|PMID:8589730|PMID:8640235|PMID:8640236|PMID:8665505|PMID:8673089|PMID:8673090|PMID:8673091|PMID:8673092|PMID:8705994|PMID:8706004|PMID:8758903|PMID:8840963|PMID:8841191
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8841192|PMID:8896551|PMID:8968085|PMID:8988179|PMID:9012404|PMID:9042907|PMID:9042909|PMID:9126734|PMID:9133456|PMID:9145676|PMID:9145678|PMID:9150150|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9150155|PMID:9150172|PMID:9150174|PMID:9167459|PMID:9361038|PMID:9400938|PMID:9429140|PMID:9536098|PMID:9537231|PMID:9537232|PMID:9579822|PMID:9585608|PMID:9585613|PMID:9609997|PMID:9634522|PMID:9643283|PMID:9654203|PMID:9667259|PMID:9699678|PMID:9758598|PMID:9761393|PMID:9766673|PMID:9771877|PMID:9792861|PMID:9836472|PMID:9840533|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10359546|PMID:10373512|PMID:1044354|PMID:10449599|PMID:10453741|PMID:10486320|PMID:10551859|PMID:10570174|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10800284|PMID:10815905|PMID:1086320|PMID:10874312|PMID:10882858|PMID:10923033|PMID:10952777|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11139248|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11207042|PMID:11240689|PMID:11241844|PMID:11304778|PMID:11336395|PMID:11389159|PMID:11447276|PMID:11595708|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11857749|PMID:11873550|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11948123|PMID:11948477|PMID:11950811|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12100744|PMID:12145750|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12228710|PMID:12385017|PMID:12427538|PMID:12442171|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12552570|PMID:12569143|PMID:12601471|PMID:12618335|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12655567|PMID:12670525|PMID:12673801|PMID:12698193|PMID:12750298|PMID:12759930|PMID:12845657|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:12967658|PMID:14555511|PMID:14555518|PMID:14559878|PMID:14574155|PMID:14647210|PMID:14647413|PMID:14684619|PMID:14732925|PMID:14973102|PMID:14985394|PMID:15004464|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15635067|PMID:15645491|PMID:15695382|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15766593|PMID:15800615|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16011303|PMID:16030099|PMID:16047344|PMID:16088935|PMID:16115142|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16284991|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16616110|PMID:16619214|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16912212|PMID:16920162|PMID:16939956|PMID:16949048|PMID:16978908|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17063271|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17301269|PMID:17333343|PMID:17413421|PMID:17445839|PMID:17470134|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17515904|PMID:17541404|PMID:17576681|PMID:17636422|PMID:17661168|PMID:17688236|PMID:17724471|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18094411|PMID:18176857|PMID:18182994|PMID:18284688|PMID:18317453|PMID:18363094|PMID:18375895|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18497862|PMID:18559594|PMID:18593900|PMID:18594331|PMID:18597679|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18694767|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18819001|PMID:18824701|PMID:18844490|PMID:18951446|PMID:18951449|PMID:18951461|PMID:19016756|PMID:19043619|PMID:19070627|PMID:19179552|PMID:19200354|PMID:19241424|PMID:19267246|PMID:19320659|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19499246|PMID:19530235|PMID:19563646|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19656415|PMID:19714488|PMID:19747923|PMID:19795481|PMID:19818148|PMID:19875419|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20033483|PMID:20041885|PMID:20051372|PMID:20054658|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20167696|PMID:20195775|PMID:20215541|PMID:20301425|PMID:20373018|PMID:20380699|PMID:20383589|PMID:20406929|PMID:20406939|PMID:20421506|PMID:20435227|PMID:20507642|PMID:20567915|PMID:20589654|PMID:20600922|PMID:20609468|PMID:20614180
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20625817|PMID:20652400|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20877358|PMID:20927582|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21138478|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21741379|PMID:21769658|PMID:21810505|PMID:21913181|PMID:21918853|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22194698|PMID:22204421|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22430266|PMID:22430443|PMID:22461402|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22720145|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22874498|PMID:22875640|PMID:22921157|PMID:22923021|PMID:22962691|PMID:22970155|PMID:22977638|PMID:23034506|PMID:23035815|PMID:23071527|PMID:23096105|PMID:23096355|PMID:23108138|PMID:23179793|PMID:23231788|PMID:23315985|PMID:23320992|PMID:23328489|PMID:23415752|PMID:234495|PMID:23451180|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23555315|PMID:23569316|PMID:23613520|PMID:23615697|PMID:23633455|PMID:23635950|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:2377269|PMID:23884708|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013206|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24123850|PMID:24131973|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285729|PMID:24302565|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24448238|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24578186|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24735155|PMID:24737347|PMID:24755471|PMID:24772314|PMID:24793135|PMID:24817641|PMID:24825132|PMID:24830819|PMID:24835992|PMID:24880342|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25062964|PMID:25066507|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25123297|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25154786|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25256751|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25351205|PMID:25351503|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25415331|PMID:25428789|PMID:25447315|PMID:25451944|PMID:25452441|PMID:25479140|PMID:25480878|PMID:25485004|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25557953|PMID:25583207|PMID:25583476|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25685387|PMID:25710373|PMID:25716084|PMID:25741868|PMID:25741869|PMID:25743105|PMID:25777348|PMID:25782689|PMID:25801821|PMID:25833843|PMID:25859162|PMID:25863477|PMID:25877686|PMID:25882375|PMID:25884701|PMID:25896959|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25964535|PMID:25980754|PMID:25985138|PMID:26000489|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26109977|PMID:26137147|PMID:26153499|PMID:26155992|PMID:26180923|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296696|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26586665|PMID:26633542|PMID:26635394|PMID:26659639|PMID:26667234|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709275|PMID:26740091|PMID:26740259|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26780556|PMID:26787237|PMID:26824983|PMID:26833046|PMID:26834852|PMID:26843898|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26886259|PMID:26911350|PMID:26920070|PMID:26976419|PMID:26992456|PMID:26992833|PMID:26997744|PMID:27009842|PMID:27060066|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27194814|PMID:27221885|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27273131|PMID:27276934|PMID:27322732|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27469594|PMID:27478808|PMID:27490902|PMID:27495310|PMID:27516001|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27628236|PMID:27633797|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27767231|PMID:27798748|PMID:27831900|PMID:27836010|PMID:27856273|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28008555|PMID:28039656|PMID:28049253|PMID:28051113|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28185119|PMID:28195569|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28243543|PMID:28259476|PMID:28263838|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28392550|PMID:28422718|PMID:28423363|PMID:28435519|PMID:28439188|PMID:28454591|PMID:28476184|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28591715|PMID:28637432|PMID:28640387|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28673926|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28713573|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28744403|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28802053|PMID:28807866|PMID:28814288|PMID:28825054|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28943953|PMID:28947987|PMID:28961279|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29025590|PMID:29061375|PMID:29061967|PMID:29084914|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29202330|PMID:29202657|PMID:29215753|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29302806|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29387975|PMID:29394989|PMID:29398457|PMID:29409476|PMID:29416752|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29506128|PMID:29566657|PMID:29580149|PMID:29580235|PMID:29596542|PMID:29601120|PMID:29625052|PMID:29641532|PMID:29681614|PMID:29684080|PMID:29700634|PMID:29707112|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29791287|PMID:29797310|PMID:29802286|PMID:29805665|PMID:29854292|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29936257|PMID:29958926|PMID:2998808|PMID:29988080|PMID:29997359|PMID:30014022|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30051098|PMID:30055349|PMID:30067863|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30122538|PMID:30130155|PMID:30131383|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30207912|PMID:30212499|PMID:30254663|PMID:30257646|PMID:30286154|PMID:30287823|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30362333|PMID:30374176|PMID:30400234|PMID:30410870|PMID:30415210|PMID:30426508|PMID:30430339|PMID:30441849
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30447919|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30548481|PMID:30553478|PMID:30555256|PMID:30588330|PMID:30601186|PMID:30606148|PMID:30611917|PMID:30613976|PMID:30623411|PMID:30625039|PMID:30630528|PMID:30635808|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30832263|PMID:30865812|PMID:30877237|PMID:30883245|PMID:30883759|PMID:30927264|PMID:30972954|PMID:30982232|PMID:31050813|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131559|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31263054|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31343793|PMID:31368036|PMID:31396961|PMID:31406321|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31428572|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31469826|PMID:31497750|PMID:31512090|PMID:31514334|PMID:31528241|PMID:31558676|PMID:31569370|PMID:31585108|PMID:31608315|PMID:31642931|PMID:31658756|PMID:31706072|PMID:31721094|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31786208|PMID:31794323|PMID:3182514|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31851867|PMID:31853058|PMID:31854063|PMID:31869745|PMID:31871109|PMID:31874108|PMID:31875949|PMID:31892343|PMID:31907386|PMID:31911673|PMID:31948886|PMID:31954625|PMID:31957001|PMID:31980526|PMID:32019277|PMID:32034076|PMID:32039725|PMID:32042831|PMID:32046981|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32133419|PMID:32161019|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32255556|PMID:32256484|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32365798|PMID:32377563|PMID:32380732|PMID:32393813|PMID:32398771|PMID:32410793|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32442302|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32486089|PMID:32510664|PMID:32521533|PMID:32522261|PMID:32532514|PMID:32554602|PMID:32566972|PMID:32579544|PMID:32587276|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32773770|PMID:32776218|PMID:32778078|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32854451|PMID:32868316|PMID:32879886|PMID:32885271|PMID:32886903|PMID:32918181|PMID:32933947|PMID:32939053|PMID:32959997|PMID:32980694|PMID:32980867|PMID:32986223|PMID:32992489|PMID:32994724|PMID:33010199|PMID:33011440|PMID:33020491|PMID:33054725|PMID:33057101|PMID:33067490|PMID:33078592|PMID:33087929|PMID:33113089|PMID:33127389|PMID:33193653|PMID:33233347|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33298767|PMID:33309985|PMID:33314489|PMID:33342804|PMID:33345658|PMID:33372952|PMID:33461583|PMID:33469799|PMID:33471991|PMID:33476590|PMID:33503928|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33599307|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33875706|PMID:33891299|PMID:33939675|PMID:33948387|PMID:33964450|PMID:33978741|PMID:34026625|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34218100|PMID:34234914|PMID:34235180|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34290354|PMID:34296289|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34452747|PMID:34541275|PMID:34548921|PMID:34572941|PMID:34597585|PMID:34598035|PMID:34616674|PMID:34645131|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34749799|PMID:34755017|PMID:34828379|PMID:34884835
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34917121|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35050751|PMID:35087763|PMID:35101336|PMID:35115620|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35190686|PMID:35218119|PMID:35220195|PMID:35260348|PMID:35261632|PMID:35263119|PMID:35264596|PMID:35278150|PMID:35300142|PMID:35309086|PMID:35356428|PMID:35382848|PMID:35402282|PMID:35406420|PMID:35409418|PMID:35409996|PMID:35411189|PMID:35412613|PMID:35417938|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35464868|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35585550|PMID:35599270|PMID:35600410|PMID:35641219|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35694415|PMID:35698740|PMID:35710434|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35870019|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35944511|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36008414|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36200007|PMID:36232564|PMID:36243179|PMID:36290365|PMID:36292577|PMID:36324133|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36493725|PMID:36495689|PMID:36531003|PMID:36537080|PMID:36555431|PMID:36557020|PMID:36605468|PMID:36623239|PMID:36672847|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36845387|PMID:36853301|PMID:36881271|PMID:36898365|PMID:36922933|PMID:36977404|PMID:36979741|PMID:36988593|PMID:36999648|PMID:37013556|PMID:37067535|PMID:37173992|PMID:37216690|PMID:37264024|PMID:37306523|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460658|PMID:37461096|PMID:37536918|PMID:37664050|PMID:37713444|PMID:37719058|PMID:37731132|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37900184|PMID:37901334|PMID:37916805|PMID:37922907|PMID:37937776|PMID:37951914|PMID:37970354|PMID:38003901|PMID:38060977|PMID:38069422|PMID:38127826|PMID:38136308|PMID:38153744|PMID:38160042|PMID:38271184|PMID:38295319|PMID:38300310|PMID:38308423|PMID:38349998|PMID:38355628|PMID:38386807|PMID:38409497|PMID:38417439|PMID:38480854|PMID:38509102|PMID:38520597|PMID:38537553|PMID:38538877|PMID:38566028|PMID:38566764|PMID:38658784|PMID:38709234|PMID:38711401|PMID:38781545|PMID:38785549|PMID:38843470|PMID:38874686|PMID:38922859|PMID:38960732|PMID:39001544|PMID:39062721|PMID:39096911|PMID:39142283|PMID:39194688|PMID:39202057|PMID:39252027|PMID:39256447|PMID:39281752|PMID:39335746|PMID:39402389|PMID:39438962|PMID:39440754|PMID:39451174|PMID:39488595|PMID:39733403|PMID:39779848|PMID:39779857|PMID:40035318|PMID:40232841|PMID:40249378|PMID:40257527|PMID:40413188|PMID:40531958|PMID:4055113|PMID:40578183|PMID:40664060|PMID:40710012|PMID:40714512|PMID:40851390|PMID:41172994|PMID:41856558|PMID:6683254|PMID:7436117|PMID:7924331|PMID:8673091|PMID:8840963|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9150152|PMID:9150172|PMID:9192668|PMID:9536098|PMID:9537232|PMID:9579822|PMID:9609997|PMID:9625424|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007661	Dwarfism		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11802209|PMID:12928470|PMID:15131399|PMID:16683254|PMID:19340607|PMID:20104584|PMID:20301425|PMID:24504028|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26586665|PMID:27433846|PMID:28324225|PMID:28492532|PMID:29446198|PMID:29625052|PMID:29922827|PMID:30702160|PMID:32073954|PMID:33471991|PMID:36149077|PMID:36451132
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9007736	Vertigo		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10882858|PMID:11927503|PMID:14555511|PMID:15235023|PMID:17767707|PMID:20135345|PMID:24033266|PMID:25266736|PMID:25348012|PMID:25741868|PMID:26467025|PMID:27149842|PMID:27633797|PMID:28492532|PMID:30287823|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:36243179|PMID:36329109|PMID:37922907|PMID:39733403|PMID:40249378
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008023	Memory Disorders		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10882858|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20104584|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008344	Invasive Breast Carcinoma		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Invasive Breast Carcinoma	PMID:25741868|PMID:28492532|PMID:31825140|PMID:31911673|PMID:33471991|PMID:37804357
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10923033|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18006916|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22977638|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32444794|PMID:32455662|PMID:32761968|PMID:33233347|PMID:33428613|PMID:33471991|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:27469594|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27907908|PMID:27914478|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29492181|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30287823|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31825140|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32613071|PMID:32761968|PMID:32980694|PMID:33054725|PMID:33233347|PMID:33428613|PMID:33471991|PMID:34072659|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10323242|PMID:10399947|PMID:10417300|PMID:10453741|PMID:10464624|PMID:10570174|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10755399|PMID:10882858|PMID:10978364|PMID:11030417|PMID:11030418|PMID:11091690|PMID:11106241|PMID:11139248|PMID:11149425|PMID:11158174|PMID:11179017|PMID:11241844|PMID:11336395|PMID:11389159|PMID:11400546|PMID:11466700|PMID:11556836|PMID:11595708|PMID:11802209|PMID:11896095|PMID:11929857|PMID:11948123|PMID:11950811|PMID:11979449|PMID:12097290|PMID:12100744|PMID:12142080|PMID:12204006|PMID:12215251|PMID:12402332|PMID:12473589|PMID:12474142|PMID:12491487|PMID:12491499|PMID:12556369|PMID:12624724|PMID:12684407|PMID:12845657|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14555518|PMID:14559878|PMID:14576434|PMID:14647438|PMID:14746861|PMID:14973102|PMID:14981104|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15145354|PMID:15168169|PMID:15317758|PMID:15365993|PMID:15533909|PMID:15635067|PMID:15689453|PMID:15695382|PMID:15744044|PMID:15800311|PMID:15876480|PMID:15937982|PMID:15983021|PMID:15994883|PMID:16030099|PMID:16168123|PMID:16261408|PMID:16284991|PMID:16455195|PMID:16683254|PMID:16758124|PMID:16760289|PMID:16825431|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16949048|PMID:17011978|PMID:17063270|PMID:17100994|PMID:17148771|PMID:17262179|PMID:17289875|PMID:17341484|PMID:17513806|PMID:17576681|PMID:17591843|PMID:17591940|PMID:17724471|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18418466|PMID:18431501|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18528753|PMID:18559594|PMID:18607349|PMID:18627636|PMID:18703817|PMID:18724707|PMID:18779604|PMID:18824701|PMID:19016756|PMID:19030985|PMID:19043619|PMID:19188187|PMID:19200354|PMID:19241424|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19656164|PMID:19861517|PMID:19949876|PMID:20104584|PMID:20215541|PMID:20216074|PMID:20301425|PMID:20694749|PMID:20736950|PMID:20858050|PMID:20887823|PMID:20960228|PMID:21063910|PMID:21120943|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21324516|PMID:21356067|PMID:21520273|PMID:21520333|PMID:21598239|PMID:21671020|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21952622|PMID:21990134|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22034289|PMID:22126563|PMID:22144684|PMID:22217648|PMID:22228431|PMID:22293751|PMID:22399190|PMID:22430266|PMID:22476429|PMID:22505045|PMID:22535016|PMID:22655046|PMID:22666503|PMID:22678057|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22729890|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22848303|PMID:22875147|PMID:22970155|PMID:22995991|PMID:23096105|PMID:23108138|PMID:23199084|PMID:23231788|PMID:23242139|PMID:23320992|PMID:23328489|PMID:23341105|PMID:23469205|PMID:23555315|PMID:23593081|PMID:23633455|PMID:23658460|PMID:23683081|PMID:23704879|PMID:23729402|PMID:23893897|PMID:23929434|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24123850|PMID:24156927|PMID:24212087|PMID:24323938|PMID:24372583|PMID:24448499|PMID:24470074|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24728189|PMID:24728327|PMID:24817641|PMID:24830819|PMID:24884479|PMID:24916970|PMID:24959366|PMID:24961674|PMID:25085752|PMID:25123297|PMID:25428789|PMID:25476495|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25846551|PMID:25863477|PMID:25882375|PMID:25948282|PMID:25980754|PMID:25985138|PMID:26026974|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27208206|PMID:27257965
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29288066|PMID:29321669|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29487695|PMID:29492181|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29752822|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30152102|PMID:30254663|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30611917|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30883759|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31396961|PMID:31428572|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31948886|PMID:32123317|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32613071|PMID:32719484|PMID:32761968|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33078592|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33726785|PMID:34046351|PMID:34072659|PMID:34567246|PMID:35300142|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29758562|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31467961|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34178674|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:34570441|PMID:34597585|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35736817|PMID:35834759|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36853301|PMID:36988593|PMID:37002487|PMID:37067535|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29758562|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31467961|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34178674|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:34570441|PMID:34597585|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35736817|PMID:35834759|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36853301|PMID:36988593|PMID:37002487|PMID:37067535|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29758562|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31467961|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34178674|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:34570441|PMID:34597585|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35534218|PMID:35736817|PMID:35834759|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36853301|PMID:36988593|PMID:37002487|PMID:37067535|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29758562|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31467961|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34178674|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:34570441|PMID:34597585|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35534218|PMID:35736817|PMID:35834759|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36853301|PMID:36988593|PMID:37002487|PMID:37067535|PMID:38136276|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:26692440|PMID:26709275|PMID:26757417|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26867194|PMID:26898890|PMID:26992456|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27165220|PMID:27208206|PMID:27257965|PMID:27383479|PMID:27425403|PMID:27433846|PMID:27469594|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27683183|PMID:27701467|PMID:27732944|PMID:27741520|PMID:27836010|PMID:27852271|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28039656|PMID:28111427|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28202063|PMID:28205045|PMID:28222693|PMID:28277317|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28419251|PMID:28422718|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28541631|PMID:28664449|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28814288|PMID:28831036|PMID:28873162|PMID:28944232|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29084914|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29240602|PMID:29310832|PMID:29321669|PMID:29335924|PMID:29339979|PMID:29346284|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29394989|PMID:29433453|PMID:29435039|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29487695|PMID:29506128|PMID:29534594|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29642553|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29723101|PMID:29752822|PMID:29758562|PMID:29802286|PMID:29881398|PMID:29884841|PMID:29907814|PMID:29937315|PMID:29961768|PMID:29978187|PMID:29988080|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30050867|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30122538|PMID:30152102|PMID:30186769|PMID:30199306|PMID:30217213|PMID:30254663|PMID:30262796|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30410429|PMID:30415210|PMID:30489631|PMID:30611917|PMID:30613976|PMID:30620386|PMID:30638113|PMID:30652428|PMID:30702160|PMID:30706003|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30875412|PMID:30883245|PMID:30883759|PMID:30982232|PMID:31090900|PMID:31131559|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263054|PMID:31263571|PMID:31325073|PMID:31396961|PMID:31409081|PMID:31428572|PMID:31432501|PMID:31444830|PMID:31447099|PMID:31467961|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31837001|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31948886|PMID:31957001|PMID:31959344|PMID:31980526|PMID:32029870|PMID:32039725|PMID:32101877|PMID:32123317|PMID:32132887|PMID:32190957|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32566972|PMID:32581362|PMID:32613071|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32782288|PMID:32817299|PMID:32820175|PMID:32853339|PMID:32854451|PMID:32879886|PMID:32885271|PMID:32980694|PMID:32984025|PMID:33054725|PMID:33077847|PMID:33078592|PMID:33087929|PMID:33151324|PMID:33233347|PMID:33309985|PMID:33428613|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33573335|PMID:33606809|PMID:33608381|PMID:33609447|PMID:33646313|PMID:33726785|PMID:33842585|PMID:33891299|PMID:33918338|PMID:34046351|PMID:34072659|PMID:34100114|PMID:34178674|PMID:34308366|PMID:34326862|PMID:34399810|PMID:34567246|PMID:34570441|PMID:34597585|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35418818|PMID:35534218|PMID:35736817|PMID:35834759|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36171877|PMID:36232564|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36605468|PMID:36853301|PMID:36988593|PMID:37002487|PMID:37067535|PMID:38136276|PMID:38922859|PMID:8075631|PMID:8524414|PMID:8665505|PMID:8673091|PMID:8673092|PMID:8758903|PMID:8840963|PMID:8841191|PMID:8841192|PMID:8898735|PMID:8988179|PMID:9042909|PMID:9145676|PMID:9150152|PMID:9150153|PMID:9150154|PMID:9536098|PMID:9585613|PMID:9609997|PMID:9758598|PMID:9771877|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:11139248|PMID:11241844|PMID:11336395|PMID:11802209|PMID:11950811|PMID:12491487|PMID:12845657|PMID:14555518|PMID:14973102|PMID:15145354|PMID:16030099|PMID:16760289|PMID:16847550|PMID:17924331|PMID:18006916|PMID:18431501|PMID:18465347|PMID:18627636|PMID:18724707|PMID:19491284|PMID:19656164|PMID:20104584|PMID:20858050|PMID:20960228|PMID:21120943|PMID:21156238|PMID:21204799|PMID:21520273|PMID:21720365|PMID:21990134|PMID:21990299|PMID:22034289|PMID:22126563|PMID:22762150|PMID:22970155|PMID:23704879|PMID:2377269|PMID:24033266|PMID:24055113|PMID:24156927|PMID:24448499|PMID:24504028|PMID:24607278|PMID:25123297|PMID:25186627|PMID:25348012|PMID:25556971|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25948282|PMID:25985138|PMID:26187060|PMID:26332594|PMID:26467025|PMID:26843898|PMID:26852015|PMID:27062684|PMID:27067391|PMID:27124784|PMID:27153395|PMID:27257965|PMID:27683183|PMID:28202063|PMID:28222693|PMID:28492532|PMID:28664449|PMID:28993434|PMID:29020732|PMID:29446198|PMID:30039884|PMID:30254663|PMID:30287823|PMID:30630528|PMID:30702160|PMID:31131559|PMID:31131967|PMID:31214711|PMID:31825140|PMID:31837001|PMID:31853058|PMID:31907386|PMID:31911673|PMID:32211327|PMID:32455662|PMID:32467295|PMID:32885271|PMID:33078592|PMID:33471991|PMID:34178674|PMID:35116780|PMID:35171259|PMID:35264596|PMID:35300142|PMID:35402282|PMID:35918668|PMID:36329109|PMID:37415649|PMID:37731132|PMID:38153744|PMID:38349998|PMID:9971877
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:736254	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:8524414|REF_RGD_ID:1599503
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10359546|PMID:1044354|PMID:10449599|PMID:10453741|PMID:10570174|PMID:10615237|PMID:10644434|PMID:10660329|PMID:10717622|PMID:10874312|PMID:10923033|PMID:10952777|PMID:11030417|PMID:11044354|PMID:11139248|PMID:11149425|PMID:11179017|PMID:11185744|PMID:11241844|PMID:11389159|PMID:11595708|PMID:11710890|PMID:11754111|PMID:11793480|PMID:11802209|PMID:11857748|PMID:11857749|PMID:11897832|PMID:11920621|PMID:11920643|PMID:11927503|PMID:11948123|PMID:12065746|PMID:12097257|PMID:12097290|PMID:12161607|PMID:12181777|PMID:12203997|PMID:12228710|PMID:12442265|PMID:12442274|PMID:12474142|PMID:12491487|PMID:12552570|PMID:12569143|PMID:12601471|PMID:12618335|PMID:12624724|PMID:12655567|PMID:12670525|PMID:12673274|PMID:12673801|PMID:12698193|PMID:12750298|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12942367|PMID:12955716|PMID:12960223|PMID:14555511|PMID:14559878|PMID:14647210|PMID:14647413|PMID:14732925|PMID:14973102|PMID:14985394|PMID:15024741|PMID:15026808|PMID:15070707|PMID:15117986|PMID:15131399|PMID:15145354|PMID:15168169|PMID:15172753|PMID:15235023|PMID:15254695|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15548363|PMID:15645491|PMID:15728167|PMID:15733268|PMID:15744044|PMID:15766593|PMID:15876480|PMID:15887246|PMID:15937982|PMID:15955690|PMID:15983021|PMID:16030099|PMID:16047344|PMID:16115142|PMID:16140926|PMID:16162645|PMID:16168123|PMID:16170354|PMID:16199546|PMID:16199547|PMID:16234499|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16550498|PMID:16616110|PMID:16619214|PMID:16683254|PMID:16758124|PMID:16793542|PMID:16825431|PMID:16826315|PMID:16875939|PMID:16912212|PMID:16920162|PMID:16949048|PMID:17026620|PMID:17063271|PMID:17100994|PMID:17148771|PMID:17224268|PMID:17250666|PMID:17301269|PMID:17333343|PMID:17445839|PMID:17503080|PMID:17513806|PMID:17515903|PMID:17576681|PMID:17591843|PMID:17636422|PMID:17661168|PMID:17688236|PMID:17767707|PMID:17851763|PMID:17899372|PMID:17924331|PMID:17925560|PMID:17972177|PMID:18006916|PMID:18042939|PMID:18092194|PMID:18094411|PMID:18176857|PMID:18257128|PMID:18284688|PMID:18286383|PMID:18403564|PMID:18424508|PMID:18431501|PMID:18446624|PMID:18451181|PMID:18465347|PMID:18489799|PMID:18593900|PMID:18607349|PMID:18627636|PMID:18627637|PMID:18694767|PMID:18703817|PMID:18779604|PMID:18824701|PMID:18844490|PMID:19016756|PMID:19043619|PMID:19070627|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19471317|PMID:19473207|PMID:19491284|PMID:19530235|PMID:19609323|PMID:19619314|PMID:19620486|PMID:19656164|PMID:19714488|PMID:19795481|PMID:19818148|PMID:19949876|PMID:20033483|PMID:20041885|PMID:20051372|PMID:20104584|PMID:20127978|PMID:20135345|PMID:20215541|PMID:20301425|PMID:20380699|PMID:20383589|PMID:20435227|PMID:20507642|PMID:20609468|PMID:20614180|PMID:20683152|PMID:20694749|PMID:20730485|PMID:20736950|PMID:20858050|PMID:20859677|PMID:20927582|PMID:20960228|PMID:21120943|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21305653|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21508395|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21548014|PMID:21559243|PMID:21614564|PMID:21671020|PMID:21673748|PMID:21702907|PMID:21719596|PMID:21720365|PMID:21741379|PMID:21769658|PMID:21913181|PMID:21918853|PMID:21939546|PMID:21947752|PMID:21952622|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:22006311|PMID:22009639|PMID:22025144|PMID:22034289|PMID:22072316|PMID:22109874|PMID:22126563|PMID:22217648|PMID:22293751|PMID:22366370|PMID:22382806|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22535016|PMID:22632462|PMID:22666503|PMID:22678057|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22720145|PMID:22762150|PMID:22771033|PMID:22776961|PMID:22798144|PMID:22874498|PMID:22921157|PMID:22923021|PMID:22962691|PMID:22970155|PMID:23035815|PMID:23096355|PMID:23108138|PMID:23231788|PMID:23315985|PMID:23320992|PMID:23328489|PMID:23479189|PMID:23524863|PMID:23531862|PMID:23555315|PMID:23569316|PMID:23613520
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23893897|PMID:23929434|PMID:23942203|PMID:23961350|PMID:23983145|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24123850|PMID:24131973|PMID:24145998|PMID:24152768|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24312913|PMID:24323938|PMID:24333842|PMID:24448238|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24578176|PMID:24578186|PMID:2460208|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24817641|PMID:24835992|PMID:24916970|PMID:25007954|PMID:25062964|PMID:25072261|PMID:25085752|PMID:25103822|PMID:25111659|PMID:25136594|PMID:25142776|PMID:25146914|PMID:25151137|PMID:25186627|PMID:25236687|PMID:25256924|PMID:25266736|PMID:25330149|PMID:25342642|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25381700|PMID:25382762|PMID:25395318|PMID:25428789|PMID:25451944|PMID:25452441|PMID:25479140|PMID:25485004|PMID:25525159|PMID:25583207|PMID:25628955|PMID:25632310|PMID:25637381|PMID:25639900|PMID:25682074|PMID:25685387|PMID:25716084|PMID:25741868|PMID:25741869|PMID:25782689|PMID:25863477|PMID:25884701|PMID:25940717|PMID:25964535|PMID:25980754|PMID:26023681|PMID:26026974|PMID:26064523|PMID:26067864|PMID:26137147|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26219728|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26483394|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26566862|PMID:26577449|PMID:26580448|PMID:26586665|PMID:26633542|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26709275|PMID:26740091|PMID:26740259|PMID:26757417|PMID:26761715|PMID:26824983|PMID:26833046|PMID:26834852|PMID:2684510|PMID:26845104|PMID:26846091|PMID:26848529|PMID:26852015|PMID:26913838|PMID:26920070|PMID:26976419|PMID:26992833|PMID:26997744|PMID:27060066|PMID:27062684|PMID:27124784|PMID:27149842|PMID:27153395|PMID:27157322|PMID:27223485|PMID:27225819|PMID:27257965|PMID:27276934|PMID:27352968|PMID:27356891|PMID:27376475|PMID:27393621|PMID:27403073|PMID:27428751|PMID:27433846|PMID:27443514|PMID:27553368|PMID:27616075|PMID:27658390|PMID:27721756|PMID:27724927|PMID:27732944|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27856273|PMID:27882536|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28008555|PMID:28049253|PMID:28102861|PMID:28111427|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28205045|PMID:28222693|PMID:28243543|PMID:28259476|PMID:28277317|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28422718|PMID:28439188|PMID:28454591|PMID:28477318|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28525389|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28678401|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28744403|PMID:28767289|PMID:28782087|PMID:28783718|PMID:28814288|PMID:28831036|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28943953|PMID:28947987|PMID:28993434|PMID:29061375|PMID:29084914|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29202657|PMID:29263802|PMID:29308099|PMID:29309945|PMID:29310832|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29356034|PMID:29360161|PMID:29394989|PMID:29409476|PMID:29439820|PMID:29446198|PMID:29470806|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29506128|PMID:29566657|PMID:29580149|PMID:29625052|PMID:29641532|PMID:29681614|PMID:29684080|PMID:29707112|PMID:29750258|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29774201|PMID:29785153|PMID:29791287|PMID:29802286|PMID:29875428|PMID:29881398|PMID:29884136|PMID:29884841|PMID:29906450|PMID:29907814|PMID:29909963|PMID:29915322|PMID:29922827|PMID:29936257|PMID:29958926|PMID:29988080|PMID:29997359|PMID:30039884|PMID:30051098|PMID:30055349|PMID:30068706|PMID:30078507|PMID:30093976|PMID:30130155|PMID:30159786|PMID:30199306|PMID:30212499|PMID:30254663|PMID:30257646|PMID:30287823|PMID:30322717|PMID:30339520|PMID:30350268|PMID:30374176
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:30415210|PMID:30447919|PMID:30555256|PMID:30588330|PMID:30606148|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30715675|PMID:30716324|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30787465|PMID:30792206|PMID:30803554|PMID:30832263|PMID:30865812|PMID:30877237|PMID:30883759|PMID:30972954|PMID:30982232|PMID:31060517|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143303|PMID:31158355|PMID:31159747|PMID:31174498|PMID:31191615|PMID:31209999|PMID:31214711|PMID:31263054|PMID:31264438|PMID:31273614|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31368036|PMID:31396961|PMID:31409081|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31497750|PMID:31514334|PMID:31528241|PMID:31642931|PMID:31658756|PMID:31706072|PMID:31753525|PMID:31794323|PMID:31825140|PMID:31837001|PMID:31843900|PMID:31850198|PMID:31853058|PMID:31869745|PMID:31875949|PMID:31892343|PMID:31907386|PMID:31911673|PMID:31948886|PMID:31957001|PMID:31980526|PMID:32019277|PMID:32034076|PMID:32046981|PMID:32064343|PMID:32068069|PMID:32073954|PMID:32091409|PMID:32101877|PMID:32114502|PMID:32123317|PMID:32133419|PMID:32211327|PMID:32231682|PMID:32234730|PMID:32256484|PMID:32300229|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32347951|PMID:32365798|PMID:32377563|PMID:32380732|PMID:32393813|PMID:32398771|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32444794|PMID:32455662|PMID:32467295|PMID:32482800|PMID:32510664|PMID:32522261|PMID:32532514|PMID:32566972|PMID:32579544|PMID:32614418|PMID:32641407|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32817299|PMID:32832836|PMID:32846166|PMID:32853339|PMID:32868316|PMID:32879886|PMID:32885271|PMID:32933947|PMID:32939053|PMID:32980694|PMID:32980867|PMID:32994724|PMID:33010199|PMID:33020491|PMID:33057101|PMID:33067490|PMID:33087929|PMID:33113089|PMID:33193653|PMID:33273034|PMID:33287145|PMID:33293522|PMID:33309985|PMID:33314489|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33609447|PMID:33643918|PMID:33753322|PMID:33754277|PMID:33758026|PMID:33773534|PMID:33804961|PMID:33808557|PMID:33850299|PMID:33891299|PMID:33918338|PMID:33964450|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34200245|PMID:34234914|PMID:34250417|PMID:34290354|PMID:34326862|PMID:34399810|PMID:34413315|PMID:34452747|PMID:34541275|PMID:34572941|PMID:34598035|PMID:34645131|PMID:34654685|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34687993|PMID:34717758|PMID:34741701|PMID:34828379|PMID:34884835|PMID:34994648|PMID:35008403|PMID:35022142|PMID:35050751|PMID:35101336|PMID:35171259|PMID:35190686|PMID:35220195|PMID:35260348|PMID:35263119|PMID:35264596|PMID:35300142|PMID:35356428|PMID:35402282|PMID:35409996|PMID:35411189|PMID:35417938|PMID:35438911|PMID:35451682|PMID:35464868|PMID:35534704|PMID:35535697|PMID:35600410|PMID:35671604|PMID:35681111|PMID:35710434|PMID:35731312|PMID:35734583|PMID:35736817|PMID:35741847|PMID:35753294|PMID:35762214|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35944511|PMID:35979650|PMID:35988656|PMID:36119527|PMID:36139606|PMID:36149077|PMID:36169650|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36367610|PMID:36370215|PMID:36446827|PMID:36451132|PMID:36493725|PMID:36495689|PMID:36537080|PMID:36555431|PMID:36605468|PMID:36717774|PMID:36721989|PMID:36732629|PMID:36775216|PMID:36853301|PMID:36881271|PMID:36977404|PMID:36988593|PMID:36999648|PMID:37067535|PMID:37173992|PMID:37216690|PMID:37415649|PMID:37461096|PMID:37536918|PMID:37664050|PMID:37719058|PMID:37731132|PMID:37804357|PMID:37809048|PMID:37842866|PMID:37922907|PMID:38069422|PMID:38160042|PMID:38167124|PMID:38308423|PMID:38409497|PMID:38417439|PMID:38509102|PMID:38520597|PMID:38781545|PMID:38922859|PMID:39096911|PMID:39142283|PMID:39194688|PMID:39438962|PMID:39451174|PMID:39488595|PMID:39779848|PMID:39779857|PMID:40249378|PMID:40413188|PMID:40851390|PMID:41172994
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:6683254|PMID:8840963|PMID:8988179|PMID:9042907|PMID:9126738|PMID:9150152|PMID:9150172|PMID:9192668|PMID:9536098|PMID:9579822|PMID:9609997|PMID:9760198|PMID:9971877|PMID:9988080
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:736254	D	RGD:8554872	20250527	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:17100994|PMID:20104584|PMID:21520333|PMID:22217648|PMID:22711857|PMID:25741868|PMID:26295337|PMID:26467025|PMID:27124784|PMID:28152038|PMID:28492532|PMID:28664449|PMID:28888541|PMID:29335924|PMID:30287823|PMID:30415210|PMID:31336956|PMID:31451522|PMID:31907386|PMID:31911673|PMID:32039725|PMID:32438681|PMID:32467295|PMID:33471991|PMID:35264596|PMID:36881271
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:736254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10 | ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:12920083|PMID:15131399|PMID:16912212|PMID:20104584|PMID:21520333|PMID:24549055|PMID:25342642|PMID:25741868|PMID:26467025|PMID:28152038|PMID:28492532|PMID:28888541|PMID:31451522|PMID:31911673|PMID:32039725|PMID:33471991|PMID:35264596|PMID:36881271
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:17924331|PMID:18607349|PMID:19043619|PMID:19200354|PMID:19563646|PMID:20104584|PMID:21990134|PMID:22678057|PMID:22762150|PMID:23531862|PMID:23983145|PMID:24010542|PMID:24323938|PMID:25146914|PMID:25525159|PMID:25652403|PMID:25741868|PMID:26467025|PMID:26577449|PMID:27616075|PMID:27767231|PMID:28185119|PMID:28283652|PMID:28492532|PMID:28664506|PMID:28724667|PMID:29446198|PMID:29988080|PMID:30287823|PMID:33471991|PMID:33643918|PMID:8673091
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736254	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9256	colorectal cancer		ISO	RGD:736254	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9256	colorectal cancer		ISO	RGD:736254	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:20104584|PMID:24156927|PMID:25741868|PMID:28492532|PMID:30865813|PMID:33609447|PMID:35736817|PMID:36721989|PMID:39568345|PMID:39779848|PMID:39779857
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9256	colorectal cancer	severity	ISO	RGD:736254	D	RGD:9068941	20210430	RGD			PMID:16533773|REF_RGD_ID:126790575
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9409	diabetes insipidus		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:10882858|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9834	hyperopia		ISO	RGD:736254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12098097	BRCA2	BRCA2 DNA repair associated	gene	DOID:9970	obesity		ISO	RGD:736254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10882858|PMID:25741868|PMID:26467025|PMID:27633797|PMID:28492532|PMID:30883245|PMID:31911673|PMID:33471991|PMID:34749799|PMID:37922907|PMID:39733403
12098097	Brca2	BRCA2, DNA repair associated	gene	DOID:83	cataract		ISO	RGD:2219	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:16964288|REF_RGD_ID:1599505
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1323253	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1323253	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:9003704	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies		ISO	RGD:1323253	D	RGD:7240710	20191113	OMIM			
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:9003704	Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies		ISO	RGD:1323253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies	PMID:25741868
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323253	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12098136	CNOT2	CCR4-NOT transcription complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098163	FAM83F	family with sequence similarity 83 member F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098163	FAM83F	family with sequence similarity 83 member F	gene	DOID:14228	oligospermia		ISO	RGD:1602306	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29525178|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31743256|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22131434|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25510381|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28430856|PMID:28492532|PMID:28859335|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:32022442|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18180444|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:22998443|PMID:23165282|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:32022442|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:36133075|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18261132|PMID:18556664|PMID:19118816|PMID:20301641|PMID:20630877|PMID:21655088|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25448007|PMID:25614874|PMID:25617005|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26662798|PMID:26742954|PMID:27447704|PMID:27549087|PMID:28051077|PMID:28251916|PMID:28430856|PMID:28492532|PMID:28859335|PMID:28889094|PMID:29342275|PMID:29468183|PMID:29518270|PMID:29650794|PMID:30373780|PMID:30552426|PMID:30740813|PMID:30792901|PMID:31313076|PMID:31475037|PMID:31743256|PMID:31980526|PMID:32022442|PMID:32268254|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33096303|PMID:33405357|PMID:33424531|PMID:33502061|PMID:33770234|PMID:34122524|PMID:34169998|PMID:34426522|PMID:34899148|PMID:36133075|PMID:36529678|PMID:37223130|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18556664|PMID:19118816|PMID:20630877|PMID:21705420|PMID:23336365|PMID:23489662|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25640679|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26742954|PMID:28051077|PMID:28492532|PMID:28889094|PMID:29342275|PMID:29518270|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:32385905|PMID:33424531|PMID:33770234|PMID:34122524|PMID:34426522|PMID:35982159|PMID:36133075|PMID:37223130|PMID:37950760|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:19118816|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060202	amyotrophic lateral sclerosis type 11		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 11 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 11	PMID:17572665|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32376792|PMID:32385536|PMID:33502061|PMID:34426522|PMID:37223130|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0060589	Yunis-Varon syndrome		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: YUNIS-VARON SYNDROME | ClinVar Annotator: match by term: Yunis Varon syndrome | ClinVar Annotator: match by term: Yunis-Varon Syndrome | ClinVar Annotator: match by term: Yunis-Varon syndrome	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24088667|PMID:24598713|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32376792|PMID:32385536|PMID:33424531|PMID:34426522|PMID:36133075|PMID:37223130|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0080923	bilateral parasagittal parieto-occipital polymicrogyria		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral parasagittal parieto-occipital polymicrogyria | ClinVar Annotator: match by term: Polymicrogyria, bilateral temporooccipital	PMID:19118816|PMID:21705420|PMID:23336365|PMID:24598713|PMID:25382069|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:32385536|PMID:34426522
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:7240710	20180130	OMIM			
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0110184	Charcot-Marie-Tooth disease type 4J		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4J | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4J	PMID:16199547|PMID:17572665|PMID:17576681|PMID:18261132|PMID:19118816|PMID:20630877|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:24878229|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28051077|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:33405357|PMID:33424531|PMID:34426522|PMID:34567078|PMID:36133075|PMID:37223130|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:0111198	autosomal dominant distal hereditary motor neuronopathy		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:24033266|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28859335|PMID:29518270|PMID:30740813|PMID:33424531|PMID:35225887|PMID:36133075|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:10892	hypospadias		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy	PMID:25741868|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:17572665|PMID:17576681|PMID:19118816|PMID:23623387|PMID:25299611|PMID:25741868|PMID:28492532|PMID:30740813|PMID:32376792|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:480	movement disease		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:630	genetic disease		ISO	RGD:1322801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:19118816|PMID:21705420|PMID:23336365|PMID:23623387|PMID:25382069|PMID:25614874|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29342275|PMID:29650794|PMID:30552426|PMID:30740813|PMID:32268254|PMID:32376792|PMID:32385536|PMID:34426522|PMID:37223130|PMID:9536098
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
12098171	FIG4	FIG4 phosphoinositide 5-phosphatase	gene	DOID:9256	colorectal cancer		ISO	RGD:1322801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:26467025|PMID:28492532
12098206	HDAC2	histone deacetylase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:0050424	familial adenomatous polyposis	treatment	ISO	RGD:1312510	D	RGD:9068941	20200609	RGD			PMID:24218540|REF_RGD_ID:9590246
12098206	HDAC2	histone deacetylase 2	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:619976	D	RGD:9068941	20240201	RGD		mRNA,protein:increased expression:pituitary gland  (rat)	PMID:26509893|REF_RGD_ID:11344152
12098206	HDAC2	histone deacetylase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:0051061	stroke		ISO	RGD:1312509	D	RGD:9068941	20230225	RGD		mRNA:decreased expression:lymphocyte	PMID:31465536|REF_RGD_ID:156430320
12098206	HDAC2	histone deacetylase 2	gene	DOID:0051061	stroke		ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:24657831|REF_RGD_ID:9590303
12098206	HDAC2	histone deacetylase 2	gene	DOID:0080016	spina bifida		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:10286	prostate carcinoma	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18212746|REF_RGD_ID:2306214
12098206	HDAC2	histone deacetylase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098206	HDAC2	histone deacetylase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD			PMID:15865607|REF_RGD_ID:9590322
12098206	HDAC2	histone deacetylase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus:	PMID:22388814|REF_RGD_ID:9590324
12098206	HDAC2	histone deacetylase 2	gene	DOID:10907	microcephaly		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:11836	clubfoot		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098206	HDAC2	histone deacetylase 2	gene	DOID:1561	cognitive disorder		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD			PMID:22388814|REF_RGD_ID:9590324
12098206	HDAC2	histone deacetylase 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:23485013|REF_RGD_ID:9590265
12098206	HDAC2	histone deacetylase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21527555
12098206	HDAC2	histone deacetylase 2	gene	DOID:1909	melanoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:23485013|REF_RGD_ID:9590265
12098206	HDAC2	histone deacetylase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:619976	D	RGD:9068941	20231221	RGD		associated with alcohol use disorder ;mRNA,protein:increased expression:amygdala (rat)	PMID:25814047|REF_RGD_ID:401938652
12098206	HDAC2	histone deacetylase 2	gene	DOID:2841	asthma		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:macrophage:	PMID:20538962|REF_RGD_ID:9590321
12098206	HDAC2	histone deacetylase 2	gene	DOID:289	endometriosis		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12098206	HDAC2	histone deacetylase 2	gene	DOID:289	endometriosis	treatment	ISO	RGD:619976	D	RGD:9068941	20200609	RGD		protein:decreased expression:ectopic endometrium, dorsal root ganglion:	PMID:20884991|REF_RGD_ID:9590244
12098206	HDAC2	histone deacetylase 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		associated with sepsis;	PMID:22933299|REF_RGD_ID:9590257
12098206	HDAC2	histone deacetylase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15337792|PMID:18421014
12098206	HDAC2	histone deacetylase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:619976	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:22732689|REF_RGD_ID:7204496
12098206	HDAC2	histone deacetylase 2	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:24940433|REF_RGD_ID:9590287
12098206	HDAC2	histone deacetylase 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:increased expression:timporal lobe:	PMID:21987499|REF_RGD_ID:9590259
12098206	HDAC2	histone deacetylase 2	gene	DOID:3525	middle cerebral artery infarction	exacerbates	ISO	RGD:1312510	D	RGD:9068941	20230209	RGD			PMID:32239566|REF_RGD_ID:155883173
12098206	HDAC2	histone deacetylase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098206	HDAC2	histone deacetylase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098206	HDAC2	histone deacetylase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27396813
12098206	HDAC2	histone deacetylase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:6132	bronchitis	treatment	ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:22708526|REF_RGD_ID:9590258
12098206	HDAC2	histone deacetylase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:630	genetic disease		ISO	RGD:1312509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:22711276|REF_RGD_ID:9590133
12098206	HDAC2	histone deacetylase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098206	HDAC2	histone deacetylase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:24448241|REF_RGD_ID:9590206
12098206	HDAC2	histone deacetylase 2	gene	DOID:8616	Peyronie's disease		ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:24841412|REF_RGD_ID:9590209
12098206	HDAC2	histone deacetylase 2	gene	DOID:8692	myeloid leukemia		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21535412
12098206	HDAC2	histone deacetylase 2	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:19147762|REF_RGD_ID:2306200
12098206	HDAC2	histone deacetylase 2	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
12098206	HDAC2	histone deacetylase 2	gene	DOID:9001581	Constipation		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:1312510	D	RGD:9068941	20200609	RGD			PMID:23696608|REF_RGD_ID:9590210
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:619976	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619976	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adrenal gland:	PMID:24717552|REF_RGD_ID:9590296
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17387270|REF_RGD_ID:2306215
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD			PMID:18714364|REF_RGD_ID:2306205
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002884	Emphysema		ISO	RGD:1312509	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:24040961
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		DNA:mutations:colon:	PMID:16642021|REF_RGD_ID:9590331
12098206	HDAC2	histone deacetylase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon:	PMID:23724067|REF_RGD_ID:9590193
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:19147762|REF_RGD_ID:2306200
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1312509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18625706
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		protein:increased acetylation:heart:	PMID:24526703|REF_RGD_ID:9590211
12098206	HDAC2	histone deacetylase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		protein:increased activity:heart:	PMID:18849323|REF_RGD_ID:2306446
12098206	HDAC2	histone deacetylase 2	gene	DOID:9004271	Colonic Polyps		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:19010907|REF_RGD_ID:9590323
12098206	HDAC2	histone deacetylase 2	gene	DOID:9004271	Colonic Polyps	treatment	ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:24218540|REF_RGD_ID:9590246
12098206	HDAC2	histone deacetylase 2	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619976	D	RGD:9068941	20200609	RGD		protein:increased activity:renal cortex:	PMID:19553350|REF_RGD_ID:9590229
12098206	HDAC2	histone deacetylase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098206	HDAC2	histone deacetylase 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:619976	D	RGD:9068941	20241214	RGD		protein:increased expression:hippocampus, cerebral cortex	PMID:21987499|REF_RGD_ID:9590259
12098206	HDAC2	histone deacetylase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD			PMID:18714364|REF_RGD_ID:2306205
12098206	HDAC2	histone deacetylase 2	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:1312510	D	RGD:9068941	20200609	RGD			PMID:22388814|REF_RGD_ID:9590324
12098206	HDAC2	histone deacetylase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11302704|PMID:19822520
12098206	HDAC2	histone deacetylase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098206	HDAC2	histone deacetylase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		protein:increased activity:kidney:	PMID:19553350|REF_RGD_ID:9590229
12098206	HDAC2	histone deacetylase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1312510	D	RGD:9068941	20200609	RGD		mRNA,proetin:increased expression,increased activity,hyperphosphorylation,hypercarbonylation:lung:	PMID:24040961|REF_RGD_ID:9590320
12098206	HDAC2	histone deacetylase 2	gene	DOID:9675	pulmonary emphysema	treatment	ISO	RGD:619976	D	RGD:9068941	20200609	RGD			PMID:23326540|REF_RGD_ID:9590245
12098206	HDAC2	histone deacetylase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreatic beta cell:	PMID:22772764|REF_RGD_ID:9590127
12098206	HDAC2	histone deacetylase 2	gene	DOID:986	alopecia areata		ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mononuclear cell:	PMID:21936853|REF_RGD_ID:9587460
12098206	HDAC2	histone deacetylase 2	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:1312509	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow,blood:	PMID:23948281|REF_RGD_ID:9681454
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:1324	lung cancer		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:3275	thymoma		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098227	KHDRBS3	KH RNA binding domain containing, signal transduction associated 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:0112194	Filippi syndrome		ISO	RGD:1602064	D	RGD:7240710	20180130	OMIM			
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:0112194	Filippi syndrome		ISO	RGD:1602064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CKAP2L-related condition | ClinVar Annotator: match by term: FILIPPI SYNDROME | ClinVar Annotator: match by term: Filippi syndrome	PMID:25439729|PMID:25741868|PMID:28492532
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:1909	melanoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:1924	hypogonadism		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:38738944
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602064	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:630	genetic disease		ISO	RGD:1602064	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12098260	CKAP2L	cytoskeleton associated protein 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12098278	DSE	dermatan sulfate epimerase	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:7240710	20180130	OMIM			
12098278	DSE	dermatan sulfate epimerase	gene	DOID:0080737	Ehlers-Danlos syndrome musculocontractural type 2		ISO	RGD:1312897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DSE-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, musculocontractural type 2	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28229453|PMID:28492532|PMID:32130795|PMID:9536098
12098278	DSE	dermatan sulfate epimerase	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:1312897	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:1909	melanoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:3275	thymoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:4362	cervical cancer		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1312897	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:630	genetic disease		ISO	RGD:1312897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12098278	DSE	dermatan sulfate epimerase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12098278	DSE	dermatan sulfate epimerase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1312897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:0060058	lymphoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:10534	stomach cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:1115	sarcoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:3070	high grade glioma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:4362	cervical cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737348	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098291	UBA3	ubiquitin like modifier activating enzyme 3	gene	DOID:9256	colorectal cancer		ISO	RGD:737348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:0111041	glycogen storage disease IXB		ISO	RGD:1343205	D	RGD:7240710	20180130	OMIM			
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:0111041	glycogen storage disease IXB		ISO	RGD:1343205	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE IXb | ClinVar Annotator: match by term: Glycogen storage disease IXb | ClinVar Annotator: match by term: PHKB-related condition | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE	PMID:16199547|PMID:17576681|PMID:17689125|PMID:18950708|PMID:21646031|PMID:25070466|PMID:25266922|PMID:25640679|PMID:25741868|PMID:26526422|PMID:26913919|PMID:28492532|PMID:28870985|PMID:30919572|PMID:31508908|PMID:33782433|PMID:33858366|PMID:34093448|PMID:34136918|PMID:34440436|PMID:34732400|PMID:34989216|PMID:35038814|PMID:37351782|PMID:37510298|PMID:38374194|PMID:9215682|PMID:9326319|PMID:9402963|PMID:9536098
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1343205	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532|PMID:9215682|PMID:9326319
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:2747	glycogen storage disease		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:25741868
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:423	myopathy		ISO	RGD:1343205	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:28492532|PMID:9215682|PMID:9326319
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1343205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:630	genetic disease		ISO	RGD:1343205	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38374194
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:28492532|PMID:9215682|PMID:9326319
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:25741868|PMID:28492532|PMID:31508908|PMID:9215682|PMID:9326319
12098320	PHKB	phosphorylase kinase regulatory subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098358	ZNF639	zinc finger protein 639	gene	DOID:0060058	lymphoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12098358	ZNF639	zinc finger protein 639	gene	DOID:1909	melanoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098358	ZNF639	zinc finger protein 639	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:5041	esophageal cancer		ISO	RGD:1316780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098371	MRPL47	mitochondrial ribosomal protein L47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:737491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30626688
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:10481	D	RGD:9068941	20220825	MouseDO			
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:737491	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome	severity	ISO	RGD:737491	D	RGD:9068941	20200618	RGD			PMID:31838832|REF_RGD_ID:30309204
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:0080642	Middle East respiratory syndrome	treatment	ISO	RGD:737491	D	RGD:9068941	20200626	RGD		human gene in mouse model	PMID:30256968|REF_RGD_ID:30309959
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:1115	sarcoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:1324	lung cancer		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:1909	melanoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:3275	thymoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737491	D	RGD:9068941	20220526	RGD		protein:increased expression: esophagus	PMID:24789592|REF_RGD_ID:152600903
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:737491	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:576	proteinuria		ISO	RGD:737491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2880436
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10481	D	RGD:9068941	20200609	RGD			PMID:19765579|REF_RGD_ID:2313699
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737491	D	RGD:9068941	20200609	RGD			PMID:19705345|REF_RGD_ID:2313700
12098393	DPP4	dipeptidyl peptidase 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10481	D	RGD:9068941	20200609	RGD			PMID:19073764|REF_RGD_ID:2313702
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:10534	stomach cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:1059	intellectual disability		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:1324	lung cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:1909	melanoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:4362	cervical cancer		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:630	genetic disease		ISO	RGD:1351066	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:7240710	20220216	OMIM			
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9004263	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY		ISO	RGD:1351066	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and gross motor and speech delay | ClinVar Annotator: match by term: UBE4A-related condition	PMID:25741868|PMID:33420346
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351066	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098422	UBE4A	ubiquitination factor E4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:1115	sarcoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350505	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1350505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098446	COPS3	COP9 signalosome subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098462	GSPT1	G1 to S phase transition 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12098462	GSPT1	G1 to S phase transition 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098488	KIAA0100	KIAA0100	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12098488	KIAA0100	KIAA0100	gene	DOID:10283	prostate cancer		ISO	RGD:1605423	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12098488	KIAA0100	KIAA0100	gene	DOID:10534	stomach cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098488	KIAA0100	KIAA0100	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098488	KIAA0100	KIAA0100	gene	DOID:1324	lung cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098488	KIAA0100	KIAA0100	gene	DOID:1909	melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098488	KIAA0100	KIAA0100	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:4362	cervical cancer		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098488	KIAA0100	KIAA0100	gene	DOID:5041	esophageal cancer		ISO	RGD:1605423	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098488	KIAA0100	KIAA0100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:6039	uveal melanoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12098488	KIAA0100	KIAA0100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098488	KIAA0100	KIAA0100	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098488	KIAA0100	KIAA0100	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098488	KIAA0100	KIAA0100	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098488	KIAA0100	KIAA0100	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605423	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:7240710	20180130	OMIM			
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:1314474	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 7, DIGENIC | ClinVar Annotator: match by term: ROM1-related condition	PMID:25741868|PMID:28492532|PMID:31816670|PMID:36819107|PMID:38540785|PMID:8202715|PMID:8595413
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16799052|PMID:20335603|PMID:24265693|PMID:24938718|PMID:25741868|PMID:28492532|PMID:33688152|PMID:34148116|PMID:3442652|PMID:35353811|PMID:7904211|PMID:8202715|PMID:8595413|PMID:9187681|PMID:9331261
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24938718|PMID:25741868|PMID:28492532
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1314475	D	RGD:9068941	20200609	RGD			PMID:10802659|REF_RGD_ID:8553197
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11297544|PMID:25741868|PMID:26103963|PMID:28492532|PMID:28912962|PMID:29155698|PMID:30718709|PMID:30820151|PMID:31054281|PMID:34148116|PMID:34426522|PMID:35353811|PMID:8595413|PMID:9331261
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098549	ROM1	retinal outer segment membrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098556	GORASP1	golgi reassembly stacking protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1353845	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:0081464	isolated glycolic aciduria		ISO	RGD:1353845	D	RGD:7240710	20260805	OMIM			
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:0081464	isolated glycolic aciduria		ISO	RGD:1353845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOLIC ACIDURIA, ISOLATED	
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:585	nephrolithiasis		ISO	RGD:1353845	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Calcium oxalate urolithiasis	PMID:24886237
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12098574	HAO1	hydroxyacid oxidase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353845	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12098589	RPRD1B	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312424	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098589	RPRD1B	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098589	RPRD1B	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1312424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098589	RPRD1B	regulation of nuclear pre-mRNA domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098600	SDC4	syndecan 4	gene	DOID:0080600	COVID-19		ISO	RGD:730877	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12098600	SDC4	syndecan 4	gene	DOID:104	bacterial infectious disease		ISO	RGD:3650	D	RGD:9068941	20200609	RGD			PMID:15001228|REF_RGD_ID:2312325
12098600	SDC4	syndecan 4	gene	DOID:10534	stomach cancer		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098600	SDC4	syndecan 4	gene	DOID:1115	sarcoma		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098600	SDC4	syndecan 4	gene	DOID:1324	lung cancer		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098600	SDC4	syndecan 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12098600	SDC4	syndecan 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919003
12098600	SDC4	syndecan 4	gene	DOID:4362	cervical cancer		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098600	SDC4	syndecan 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098600	SDC4	syndecan 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098600	SDC4	syndecan 4	gene	DOID:5844	myocardial infarction		ISO	RGD:730877	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:11372670|REF_RGD_ID:2312328
12098600	SDC4	syndecan 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:11279	D	RGD:9068941	20250724	RGD		mRNA:increased expression:kidney	PMID:14633120|REF_RGD_ID:2311707
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:0080460	developmental and epileptic encephalopathy 34		ISO	RGD:731044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 34 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 34 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 34 | ClinVar Annotator: match by term: SLC12A5-related disorder	PMID:16199547|PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26333769|PMID:27436767|PMID:28106320|PMID:28492532|PMID:31618474|PMID:9536098
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:0080460	developmental and epileptic encephalopathy 34	susceptibility	ISO	RGD:731044	D	RGD:7240710	20260812	OMIM			
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:731044	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:11832	visual epilepsy		ISO	RGD:731044	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086212
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:1824	status epilepticus		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20600929
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:1826	epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12000122|PMID:18550034
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:1826	epilepsy		ISO	RGD:731045	D	RGD:9068941	20220825	MouseDO			
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19674083
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086212
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731044	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:28492532
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:9009306	Idiopathic Generalized Epilepsy 14		ISO	RGD:731044	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 14 | ClinVar Annotator: match by term: SLC12A5-related disorder	PMID:17576681|PMID:24668262|PMID:24928908|PMID:25741868|PMID:26528127|PMID:28106320|PMID:28492532|PMID:31104500|PMID:9536098
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:9009306	Idiopathic Generalized Epilepsy 14	susceptibility	ISO	RGD:731044	D	RGD:7240710	20260812	OMIM			
12098609	SLC12A5	solute carrier family 12 member 5	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:731044	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:0050840	cervical dystonia		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:11830	myopia		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:540	strabismus		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:674	cleft palate		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9003591	Telecanthus		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098639	ZBTB10	zinc finger and BTB domain containing 10	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1348951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098649	GLS	glutaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098649	GLS	glutaminase	gene	DOID:0061156	CASGID syndrome		ISO	RGD:736636	D	RGD:7240710	20190315	OMIM			
12098649	GLS	glutaminase	gene	DOID:0061156	CASGID syndrome		ISO	RGD:736636	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CASGID SYNDROME | ClinVar Annotator: match by term: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:0112207	developmental and epileptic encephalopathy 71		ISO	RGD:736636	D	RGD:7240710	20190315	OMIM			
12098649	GLS	glutaminase	gene	DOID:0112207	developmental and epileptic encephalopathy 71		ISO	RGD:736636	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 71	PMID:25741868|PMID:30575854
12098649	GLS	glutaminase	gene	DOID:1059	intellectual disability		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:11830	myopia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:1324	lung cancer		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12098649	GLS	glutaminase	gene	DOID:1826	epilepsy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:1827	generalized epilepsy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:1909	melanoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098649	GLS	glutaminase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098649	GLS	glutaminase	gene	DOID:3070	high grade glioma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12098649	GLS	glutaminase	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:736636	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
12098649	GLS	glutaminase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12098649	GLS	glutaminase	gene	DOID:5041	esophageal cancer		ISO	RGD:736636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098649	GLS	glutaminase	gene	DOID:535	sleep disorder		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:5723	optic atrophy		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098649	GLS	glutaminase	gene	DOID:630	genetic disease		ISO	RGD:736636	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:33057194
12098649	GLS	glutaminase	gene	DOID:8398	osteoarthritis		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12098649	GLS	glutaminase	gene	DOID:9000343	Vision Disorders		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9000631	Hyper-Beta-Alaninemia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyper-beta-alaninemia	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9001502	Congenital Microtia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12098649	GLS	glutaminase	gene	DOID:9002720	Splenomegaly		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12098649	GLS	glutaminase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12098649	GLS	glutaminase	gene	DOID:9004866	Ataxia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9005979	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine		ISO	RGD:736636	D	RGD:7240710	20190821	OMIM			
12098649	GLS	glutaminase	gene	DOID:9005979	Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine		ISO	RGD:736636	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE | ClinVar Annotator: match by term: Global developmental delay, progressive ataxia, and elevated glutamine	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098649	GLS	glutaminase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9008189	Pyelectasis		ISO	RGD:736636	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: pyelectasis	PMID:32641753
12098649	GLS	glutaminase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736636	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098649	GLS	glutaminase	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
12098649	GLS	glutaminase	gene	DOID:9970	obesity		ISO	RGD:736636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12098675	LHX4	LIM homeobox 4	gene	DOID:0061017	combined pituitary hormone deficiency 4		ISO	RGD:1317585	D	RGD:7240710	20180130	OMIM			
12098675	LHX4	LIM homeobox 4	gene	DOID:0061017	combined pituitary hormone deficiency 4		ISO	RGD:1317585	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: LHX4-related condition | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 4 | ClinVar Annotator: match by term: Short stature-pituitary and cerebellar defects-small sella turcica syndrome	PMID:18445675|PMID:23029363|PMID:23990694|PMID:25741868|PMID:28492532|PMID:34008892
12098675	LHX4	LIM homeobox 4	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1317585	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	
12098675	LHX4	LIM homeobox 4	gene	DOID:630	genetic disease		ISO	RGD:1317585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:1909	melanoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316884	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098685	AREL1	apoptosis resistant E3 ubiquitin protein ligase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316884	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:0050855	renal fibrosis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18809736|REF_RGD_ID:7241554
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15576455|REF_RGD_ID:1625040
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:10247	pleurisy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:11853231|REF_RGD_ID:5129218
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:10763	hypertension		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12025958|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:704378
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:10763	hypertension		ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:CDS:in American-Caucasians,T allele of SNP8, C allele of SNP12, T allele of SNP13	PMID:15643125|REF_RGD_ID:1625732
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:10952	nephritis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18809736|REF_RGD_ID:7241554
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:18182225|REF_RGD_ID:5129227
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15878326|REF_RGD_ID:7241570
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:21412216|REF_RGD_ID:7175321
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:1826	epilepsy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12746865|REF_RGD_ID:704381
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:2921	glomerulonephritis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:20448019|REF_RGD_ID:7241551
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:2921	glomerulonephritis		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20448019|REF_RGD_ID:7241551
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15196965
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:20451601|REF_RGD_ID:5129229
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:4483	rhinitis		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:12165532|REF_RGD_ID:5129220
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:5844	myocardial infarction		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:783	end stage renal disease		ISO	RGD:730874	D	RGD:9068941	20200609	RGD			PMID:10604543|REF_RGD_ID:7241582
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA: SNP: G(-699)C	PMID:10809796|REF_RGD_ID:7241561
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:783	end stage renal disease	resistance	ISO	RGD:730874	D	RGD:9068941	20200609	RGD		DNA: SNP: G-699-->C	PMID:9555662|REF_RGD_ID:7241560
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:620401	D	RGD:9068941	20200716	RGD		associated with Diabetes Mellitus, Experimental	PMID:18311190|REF_RGD_ID:2313334
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9000197	Edema	severity	ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12411434|REF_RGD_ID:628496
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16982965
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9000641	Pain		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:17988733|REF_RGD_ID:5129214
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9000641	Pain		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9000784	Fibrosis		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15253105|REF_RGD_ID:1625759
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12927641|REF_RGD_ID:1579989
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989505|PMID:19300402|PMID:19815945
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:12637034|REF_RGD_ID:7241581
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:15001555|REF_RGD_ID:1625760
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002661	Diabetes Complications		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20479236|REF_RGD_ID:7241550
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9002720	Splenomegaly		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20096676
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9005372	Inflammation		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20152050
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:12522068|REF_RGD_ID:704380
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620401	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12489796|REF_RGD_ID:704379
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730874	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21430409
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:20092893|REF_RGD_ID:7241569
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:731358	D	RGD:9068941	20200609	RGD			PMID:18725957|REF_RGD_ID:7241559
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:17618300|PMID:17988733|REF_RGD_ID:5129214|REF_RGD_ID:5129217
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9008887	Microvascular Angina		ISO	RGD:730874	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:17852785|REF_RGD_ID:4890450
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:620401	D	RGD:9068941	20200609	RGD			PMID:20587056|REF_RGD_ID:5129222
12098706	BDKRB1	bradykinin receptor B1	gene	DOID:9970	obesity		ISO	RGD:731358	D	RGD:9068941	20200609	RGD		ob/ob mice  mRNA:decreased expression:brown adipose tissue, heart  mRNA:increased expression:white adipose tissue, hypothalamus	PMID:17184856|REF_RGD_ID:1625733
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:1115	sarcoma		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:5041	esophageal cancer		ISO	RGD:1353753	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353753	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098709	ZBTB34	zinc finger and BTB domain containing 34	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098714	FAM156A	family with sequence similarity 156 member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:1324	lung cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12098715	MIIP	migration and invasion inhibitory protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1602214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12098737	HBB	hemoglobin subunit beta	gene	DOID:2859	hemoglobin C disease		ISO	RGD:736606	D	RGD:9068941	20260813	RGD		DNA:point mutation:CDS:69G>A, amino acid E6K	PMID:2239966|REF_RGD_ID:1600890
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:736606	D	RGD:9068941	20260507	RGD		protein:decreased expression:lung	PMID:20836851|REF_RGD_ID:645244059
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15008262|PMID:16199547|PMID:18976160|PMID:20406103|PMID:2200760|PMID:23637309|PMID:2393712|PMID:24986053|PMID:25741868|PMID:26467025|PMID:28366028|PMID:28391758|PMID:28492532|PMID:2917118|PMID:8037197
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050562	West syndrome		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:15181845|PMID:18414926|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:33198537|PMID:40485898|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		protein:increased glycation:blood	PMID:19774216|REF_RGD_ID:645238731
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0060321	umbilical hernia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080770	autosomal dominant beta thalassemia		ISO	RGD:736606	D	RGD:7240710	20180130	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080770	autosomal dominant beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | ClinVar Annotator: match by term: Beta-thalassemia, dominant inclusion body type	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:15741802|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4212046|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8330978|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23729725|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN KNOSSOS | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:49057|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10569722|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:11425418|PMID:11523095|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1515649|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:1536956|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17654071|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20524821|PMID:20628988|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22734587|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28794124|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:29171316|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32664780|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:37826942|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4841979|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6061750|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7092797|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10569722|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:1138922|PMID:11425418|PMID:11501714|PMID:11523095|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14091853|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1515649|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:1536956|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365000|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17654071|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20524821|PMID:20628988|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22734587|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28794124|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:29171316|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32664780|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:37826942|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4761994|PMID:4841979|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6061750|PMID:6082463|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6480364|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6839025|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7092797|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7717379|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:809962|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20240820	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32664780|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:33000750|PMID:33091040|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:3671081|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3754244|PMID:3758492|PMID:37826942|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4761994|PMID:4841979|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6061750|PMID:6082463|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6480364|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6839025|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7092797|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7717379|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:809962|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10569722|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:1138922|PMID:11425418|PMID:11501714|PMID:11523095|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14091853|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1515649|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:1536956|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15885607|PMID:15921161|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365000|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17654071|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18391696|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1911355|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20524821|PMID:20628988|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21232998
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22734587|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:23055791|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:2375910|PMID:2375912|PMID:23806067|PMID:2384310|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200152|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24985928|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:2612904|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26593421|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28546763|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28794124|PMID:28802248|PMID:28865746|PMID:28868125|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:29171316|PMID:2917193|PMID:2920213|PMID:29240028|PMID:29251008|PMID:29295702
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:29319890|PMID:29464999|PMID:29484903|PMID:29669226|PMID:29695942|PMID:29700171|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30430274|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30704988|PMID:30777047|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31788855|PMID:31890591|PMID:31899996|PMID:31903828|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32165824|PMID:32190157|PMID:32371413|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32664780|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32982166|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33947296|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:34789072|PMID:35023007|PMID:35064169|PMID:35330400|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36106931|PMID:36184|PMID:3623977|PMID:36695330|PMID:3671081|PMID:36752381|PMID:3683554|PMID:36898140|PMID:3690667|PMID:37028505|PMID:37034522|PMID:37058522|PMID:37188672|PMID:37265972|PMID:37381791|PMID:3752087|PMID:3754244|PMID:37554704|PMID:3758492|PMID:37745687|PMID:37826942|PMID:37895316|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:38504512|PMID:3859465|PMID:38649425|PMID:3866233|PMID:38895162|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4030382|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4301455|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4761994|PMID:4841979|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6061750|PMID:6082463|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292136|PMID:6292840|PMID:6292841|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6480364|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6839025|PMID:6852251|PMID:6859036|PMID:6895866|PMID:6896219|PMID:6956887|PMID:6985481|PMID:700140|PMID:7076659|PMID:7092797|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7320200|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7713749|PMID:7717379|PMID:7755625|PMID:7794779|PMID:7795641
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250218	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN COCODY | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:809962|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8378346|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:10081986|PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:10569722|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:10861818|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11300355|PMID:1138922|PMID:11425418|PMID:11501714|PMID:11523095|PMID:11559932|PMID:1163074|PMID:1164567|PMID:11713529|PMID:1173714|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:14081243|PMID:14084634|PMID:14091853|PMID:14160125|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14343445|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1515649|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15352994|PMID:1536956|PMID:15395398|PMID:15470211|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15697092|PMID:15761692|PMID:15768552|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15885607|PMID:15921161|PMID:15929117|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365000|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17654071|PMID:17655700|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18391696|PMID:18403562|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18619001|PMID:18654889|PMID:1873227|PMID:18759082|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:1911355|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19372376|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19500561|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1985702|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110179|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20324533|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20524821|PMID:20628988|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21879898|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22690826|PMID:22734587|PMID:22737496|PMID:22738642|PMID:2283297|PMID:2283300|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:23001606|PMID:23055791|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:2310691|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:2366586|PMID:2375910|PMID:2375912|PMID:23806067|PMID:2384310|PMID:23915319|PMID:2393018|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200152|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24985928|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:2612904|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26593421|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264598|PMID:27265760|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27535164|PMID:2753736|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27821013|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28503568|PMID:28546763|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:2867271|PMID:2875755|PMID:28794124|PMID:28802248|PMID:28865746|PMID:28868125|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:29171316|PMID:2917193|PMID:2920213|PMID:29240028
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:29251008|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29669226|PMID:29695942|PMID:29700171|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30430274|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30704988|PMID:30777047|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31126755|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31145010|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:3130858|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31788855|PMID:31890591|PMID:31899996|PMID:31903828|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32165824|PMID:32190157|PMID:32371413|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32664780|PMID:3267215|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32982166|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33947296|PMID:33966551|PMID:33971252|PMID:3403716|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34749363|PMID:34789072|PMID:35023007|PMID:35064169|PMID:35330400|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36106931|PMID:36184|PMID:3623977|PMID:36695330|PMID:3671081|PMID:36752381|PMID:3683554|PMID:36898140|PMID:3690667|PMID:37028505|PMID:37034522|PMID:37058522|PMID:37188672|PMID:37240547|PMID:37265972|PMID:37381791|PMID:3752087|PMID:3754244|PMID:37554704|PMID:3758492|PMID:37745687|PMID:37826942|PMID:37895316|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3840039|PMID:38504512|PMID:3859465|PMID:38649425|PMID:3866233|PMID:38708170|PMID:38895162|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957922|PMID:4018033|PMID:4030382|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4129558|PMID:4232783|PMID:429843|PMID:4301455|PMID:4351905|PMID:4361439|PMID:4413625|PMID:4761994|PMID:4841979|PMID:4991321|PMID:4994348|PMID:5050915|PMID:5129589|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5773089|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5886928|PMID:5915974|PMID:5961314|PMID:5996551|PMID:6019668|PMID:6021187|PMID:6033745|PMID:6034218|PMID:6054484|PMID:6061750|PMID:6082463|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292136|PMID:6292840|PMID:6292841|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6480364|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6839025|PMID:6852251|PMID:6859036|PMID:6895866|PMID:6896219|PMID:6956887|PMID:6985481|PMID:700140|PMID:7076659|PMID:7092797|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204096|PMID:721609|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7320200|PMID:7338475|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7507641|PMID:7522523|PMID:7558878|PMID:7599641|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7683931
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Beta-plus-thalassemia | ClinVar Annotator: match by term: Beta-plus-thalassemia, dominant | ClinVar Annotator: match by term: Beta-thalassemia major | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN CAGLIARI | ClinVar Annotator: match by term: HEMOGLOBIN D (CAMPERDOWN) | ClinVar Annotator: match by term: HEMOGLOBIN MALAY | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E	PMID:7713749|PMID:7717379|PMID:7755625|PMID:7794779|PMID:7795641|PMID:7852087|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7929232|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:809962|PMID:8112743|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8226093|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330981|PMID:8373896|PMID:8378346|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8811316|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9653159|PMID:974261|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:993333|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080771	beta-thalassemia major		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETA-PLUS-THALASSEMIA | ClinVar Annotator: match by term: BETA-PLUS-THALASSEMIA, DOMINANT | ClinVar Annotator: match by term: Cooley's anemia | ClinVar Annotator: match by term: HEMOGLOBIN NORTH SHORE | ClinVar Annotator: match by term: HEMOGLOBIN TERRE HAUTE | ClinVar Annotator: match by term: Hemoglobin E | ClinVar Annotator: match by term: Hemoglobin E/beta- thalassemia	PMID:11186258|PMID:11830454|PMID:11880644|PMID:12124399|PMID:12709369|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1374896|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15181845|PMID:15278762|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16291734|PMID:1705411|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18473247|PMID:1856830|PMID:18603555|PMID:19000664|PMID:19061217|PMID:19205975|PMID:19254853|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19758965|PMID:1986379|PMID:2004023|PMID:20110179|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20412082|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:23591685|PMID:23637309|PMID:2375910|PMID:24123366|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24719849|PMID:24857915|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25677748|PMID:25741868|PMID:2582106|PMID:25849334|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27690257|PMID:27821013|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28379995|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:32126744|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6826539|PMID:7384810|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080772	beta-thalassemia intermedia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Beta thalassemia intermedia | ClinVar Annotator: match by term: THALASSEMIA INTERMEDIA	PMID:11857746|PMID:1550780|PMID:2018842|PMID:20524821|PMID:21119755|PMID:21423179|PMID:25741868|PMID:26016899|PMID:27821015|PMID:28492532
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080773	delta beta-thalassemia		ISO	RGD:736606	D	RGD:7240710	20180130	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0080773	delta beta-thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Delta-beta-thalassemia | ClinVar Annotator: match by term: HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN | ClinVar Annotator: match by term: Hereditary persistence of fetal hemoglobin	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34272389|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0081013	severe COVID-19		ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with type 2 diabetes mellitus;protein:increased glycation:blood	PMID:38296292|REF_RGD_ID:645238741
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0081445	sickle cell disease		ISO	RGD:736606	D	RGD:7240710	20240501	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0081445	sickle cell disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sickle cell disease	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0110327	hypertrophic cardiomyopathy 26		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 26	PMID:10722117|PMID:24115288|PMID:25741868
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0111363	Heinz body anemia		ISO	RGD:736606	D	RGD:7240710	20180130	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0111363	Heinz body anemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heinz body anemia | ClinVar Annotator: match by term: Heinz body hemolytic anemia	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0111632	familial erythrocytosis 6		ISO	RGD:736606	D	RGD:7240710	20190315	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0111632	familial erythrocytosis 6		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE | ClinVar Annotator: match by term: erythrocytosis, familial, 6	PMID:10722117|PMID:10815781|PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12124399|PMID:12324499|PMID:12403232|PMID:1246355|PMID:12702481|PMID:12827652|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:1390250|PMID:14084634|PMID:14555304|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:16421096|PMID:16470532|PMID:16987804|PMID:17331080|PMID:17365006|PMID:17486495|PMID:17576681|PMID:1769663|PMID:17932132|PMID:1802884|PMID:1814856|PMID:18294253|PMID:18391696|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:1967205|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:21797703|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24106605|PMID:24115288|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2446680|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:25856402|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26076396|PMID:26097845|PMID:2612904|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26593421|PMID:26635043|PMID:27080228|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:27979672|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:28671035|PMID:28802248|PMID:28868125|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29199120|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:29790589|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30430274|PMID:30704988|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31130284|PMID:31268351|PMID:31388287|PMID:31456457|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31899996|PMID:31980563|PMID:32126744|PMID:32420772|PMID:32527859|PMID:3267215|PMID:32732363|PMID:32982166|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34258108|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35064169|PMID:35068381|PMID:35330400|PMID:35403941|PMID:35615994|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:36898140|PMID:37028505|PMID:37034522|PMID:37240547|PMID:37265972|PMID:37826942|PMID:37895316|PMID:38504512|PMID:38708170|PMID:38993732|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6189507|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6280057|PMID:629284|PMID:6292841|PMID:6320218|PMID:639985|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6874372|PMID:6895866|PMID:6956887|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7320200|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:7522523|PMID:7668219
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:0111632	familial erythrocytosis 6		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Erythrocytosis, familial, 6 | ClinVar Annotator: match by term: POLYCYTHEMIA, BETA-GLOBIN TYPE | ClinVar Annotator: match by term: erythrocytosis, familial, 6	PMID:8037197|PMID:8257991|PMID:8294201|PMID:8330981|PMID:8373896|PMID:8378346|PMID:8435318|PMID:8454469|PMID:8518184|PMID:8619407|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10241	thalassemia		ISO	RGD:736606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thalassemia	PMID:25741868
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1059	intellectual disability		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10780	primary polycythemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN JOHNSTOWN | ClinVar Annotator: match by term: HEMOGLOBIN NEW MEXICO	PMID:11074558|PMID:15658189|PMID:17952198|PMID:22563907|PMID:2272838|PMID:26467025
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10783	methemoglobinemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN TUBINGEN	PMID:25741868
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:23637309|PMID:23651435|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:24957539|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27521855|PMID:27521862|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:29240028|PMID:2930724|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29695942|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3014870|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30626242|PMID:30843739|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31240559|PMID:31268351|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31890591|PMID:32039214|PMID:32126744|PMID:32190157|PMID:32411010|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3267215|PMID:32860008|PMID:33091040|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:3354556|PMID:33851260|PMID:3403716|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35287566|PMID:3557993|PMID:3557994|PMID:3557998|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:49057|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5722880|PMID:5863839|PMID:5915974|PMID:6016610|PMID:6019668|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Hemoglobin S Disease | ClinVar Annotator: match by term: Sickle cell disease | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7691242|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7908281|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8494004|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8978308|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:974261|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:10203101|PMID:10335989|PMID:10367791|PMID:10520021|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11196276|PMID:11300348|PMID:11425418|PMID:11501714|PMID:11559932|PMID:11713529|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11791878|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11893657|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144056|PMID:12144057|PMID:12144064|PMID:12149194|PMID:12172041|PMID:12210807|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:12488606|PMID:12702481|PMID:12709369|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:1301932|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13872094|PMID:1390250|PMID:14084634|PMID:14091853|PMID:14160125|PMID:1427786|PMID:14282052|PMID:1428944|PMID:1428947|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:1517108|PMID:1517111|PMID:15181845|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15395398|PMID:15470211|PMID:15470216|PMID:15481886|PMID:1550780|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15670040|PMID:15697092|PMID:15727901|PMID:15761692|PMID:15768552|PMID:1581247|PMID:1586746|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634366|PMID:1634368|PMID:16370495|PMID:16421096|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16750922|PMID:1680789|PMID:16821247|PMID:16972227|PMID:17008283|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17654071|PMID:17655700|PMID:17655708|PMID:1769663|PMID:17774955|PMID:1787101|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18391696|PMID:18495504|PMID:1850955|PMID:18568278|PMID:18603555|PMID:1873227|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1911355|PMID:1917531|PMID:1923751|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:19734427|PMID:19758965|PMID:19783722|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:19958184|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20090224|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20524821|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21092132|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21529713|PMID:21599435|PMID:21732929|PMID:21797702|PMID:21797703|PMID:21931510|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22075726|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:22690826|PMID:22737496|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:22975760|PMID:2298457|PMID:2298920|PMID:22995479|PMID:23055791|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23543793|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:23859443|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:24652967|PMID:2467892|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:2513289|PMID:25135424|PMID:25155404|PMID:25244406|PMID:25332589|PMID:25332633|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25677748|PMID:25741868|PMID:25754248|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26041423|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26084319|PMID:26097845|PMID:2612904|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26554253|PMID:26554862|PMID:26593421|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26877226|PMID:26897028|PMID:26956563|PMID:27032675|PMID:2703363|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:2753736|PMID:27670359|PMID:27690257|PMID:27718361|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28125089|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28546763|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28698850|PMID:2875755|PMID:28802248|PMID:28865746|PMID:28868125|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:29157184|PMID:2915972|PMID:2920213|PMID:29240028|PMID:29295702|PMID:29319890|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29669226|PMID:29695942|PMID:29700171|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:3014870|PMID:3021139|PMID:30249157|PMID:30275481|PMID:3031297|PMID:30315176|PMID:30430274|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30704988|PMID:30777047|PMID:30820323|PMID:30843739|PMID:31081264|PMID:31096791|PMID:31106603|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31395865|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31788855|PMID:31890591|PMID:31899996|PMID:31903828|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32165824|PMID:32190157|PMID:32371413|PMID:32411010|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:32664780|PMID:3267215|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32982166|PMID:33000750|PMID:33091040|PMID:33092544|PMID:33116287|PMID:33244864|PMID:33279152|PMID:33287582|PMID:33335418|PMID:33489049|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:33829933|PMID:3384695|PMID:33851260|PMID:33867742|PMID:33947296|PMID:3403716|PMID:34060430|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34293487|PMID:34334128|PMID:34426522|PMID:34474730|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35064169
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:35143361|PMID:35287566|PMID:35330400|PMID:3557993|PMID:3557994|PMID:3557998|PMID:35615994|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36106931|PMID:3623977|PMID:36695330|PMID:3671081|PMID:36752381|PMID:3683554|PMID:36898140|PMID:3690667|PMID:3691763|PMID:37028505|PMID:37034522|PMID:37058522|PMID:37240547|PMID:37265972|PMID:37381791|PMID:3752087|PMID:37554704|PMID:37826942|PMID:37845805|PMID:37895316|PMID:3821796|PMID:3828533|PMID:3840039|PMID:38504512|PMID:3859465|PMID:38649425|PMID:38708170|PMID:38895162|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4018033|PMID:4078867|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4683875|PMID:4715135|PMID:4725603|PMID:4991321|PMID:5050915|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5672850|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6061750|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6292841|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6895866|PMID:6896219|PMID:6956887|PMID:6985481|PMID:7073867|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:721614|PMID:7229029|PMID:7312624|PMID:7320200|PMID:7338475|PMID:7384810|PMID:7395858|PMID:7397380|PMID:7505125|PMID:750553|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7668221|PMID:7683931|PMID:7795641|PMID:7852087|PMID:7908281|PMID:7909640|PMID:7993409|PMID:808079|PMID:8091935|PMID:8095930|PMID:8144357|PMID:8161774|PMID:8172199|PMID:81926|PMID:8195010|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8294201|PMID:8330981|PMID:8373896|PMID:8378346|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8555060|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8874232|PMID:8917506|PMID:893136|PMID:8978308|PMID:8980256|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101286|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:932531|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9875660|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN QUEBEC-CHORI | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickle cell anemia | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:10490138|PMID:10815781|PMID:10846826|PMID:11001883|PMID:11186258|PMID:11196276|PMID:11501714|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12000828|PMID:12124399|PMID:12383672|PMID:12403232|PMID:12764548|PMID:12818227|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:1376298|PMID:1384315|PMID:13852872|PMID:14084634|PMID:1427786|PMID:14405428|PMID:14492555|PMID:14613965|PMID:14808148|PMID:15000665|PMID:15008262|PMID:15181845|PMID:15395398|PMID:15470216|PMID:1550780|PMID:15543018|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16020116|PMID:16175509|PMID:16199547|PMID:1634358|PMID:16732578|PMID:1680789|PMID:17287491|PMID:17331080|PMID:17365006|PMID:17576681|PMID:17655708|PMID:17774955|PMID:17932132|PMID:1802884|PMID:18048408|PMID:18081706|PMID:18192399|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:1891024|PMID:18976160|PMID:19061217|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19631632|PMID:19657842|PMID:19657844|PMID:19734427|PMID:19758965|PMID:19783722|PMID:1986365|PMID:20090224|PMID:20181291|PMID:2018842|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20406103|PMID:20437613|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20704537|PMID:20838957|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21423179|PMID:21529713|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22188014|PMID:22244832|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23297836|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23425204|PMID:23543793|PMID:23591685|PMID:23637309|PMID:23651435|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2458145|PMID:2467892|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25203083|PMID:25332633|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25741868|PMID:25754248|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25976460|PMID:2599884|PMID:26016899|PMID:26041415|PMID:26076395|PMID:26275168|PMID:26287797|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26372288|PMID:26436569|PMID:26467025|PMID:26661037|PMID:27117567|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27427187|PMID:27453201|PMID:2753736|PMID:27718361|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27884173|PMID:28143837|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28589738|PMID:28635337|PMID:28671035|PMID:28698850|PMID:28802248|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:29157184|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29542687|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:3048433|PMID:30604644|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31395865|PMID:31553106|PMID:3170235|PMID:31788855|PMID:31903828|PMID:31980563|PMID:32126744|PMID:32527859|PMID:32672086|PMID:3267215|PMID:32813673|PMID:32860008|PMID:32986258|PMID:33091040|PMID:33092544|PMID:33116287|PMID:33279152|PMID:3354556|PMID:3384695|PMID:33851260|PMID:33947296|PMID:34092029|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:34815527|PMID:34893152|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35287566|PMID:35403941|PMID:35615994|PMID:36054783|PMID:36073655|PMID:36106931|PMID:36246595|PMID:36534489|PMID:36625083|PMID:36861191|PMID:3690667|PMID:3691763|PMID:37028505|PMID:37240547|PMID:37265972|PMID:3752087|PMID:37592328|PMID:37826942|PMID:3821796|PMID:38504512|PMID:38708170|PMID:38748601|PMID:39309676
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN QUEBEC-CHORI | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickle cell anemia | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:39515600|PMID:3957690|PMID:39696913|PMID:39858575|PMID:4232783|PMID:4683875|PMID:4715135|PMID:4725603|PMID:5120550|PMID:5124025|PMID:6019668|PMID:6030043|PMID:6061750|PMID:6086605|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6272289|PMID:6280057|PMID:6285354|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7073867|PMID:7137165|PMID:7229029|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:7993409|PMID:8037197|PMID:81926|PMID:8195010|PMID:8199597|PMID:8201467|PMID:8257991|PMID:8294201|PMID:8435318|PMID:8462981|PMID:8555060|PMID:8891722|PMID:893132|PMID:9048934|PMID:909565|PMID:9101286|PMID:9113933|PMID:9140720|PMID:9342003|PMID:9401495|PMID:9536098|PMID:9556665|PMID:9845707|PMID:9859938
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:10923	sickle cell anemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (IRAN) | ClinVar Annotator: match by term: HEMOGLOBIN QUEBEC-CHORI | ClinVar Annotator: match by term: HEMOGLOBIN ROCKFORD | ClinVar Annotator: match by term: Sickling disorder due to hemoglobin S	PMID:10846826|PMID:11186258|PMID:11196276|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17655708|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:19783722|PMID:2004023|PMID:20090224|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20838957|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23543793|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25332633|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28698850|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29519374|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33279152|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35287566|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:4715135|PMID:4725603|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7073867|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8195010|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:736606	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia	PMID:10203101|PMID:10335989|PMID:10583251|PMID:10602954|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11545326|PMID:11559932|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12383672|PMID:12702481|PMID:12764548|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14133899|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19440680|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19958185|PMID:19960060|PMID:2004023|PMID:20132300|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20492708|PMID:20642331|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:23590658|PMID:23637309|PMID:23647352|PMID:23729725|PMID:2393712|PMID:24033266|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:24368026|PMID:24369358|PMID:2442092|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25408857|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25849334|PMID:25856402|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554253|PMID:26554862|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:736606	D	RGD:8554872	20250225	ClinVar		ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia	PMID:10203101|PMID:10335989|PMID:10583251|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11425418|PMID:11501714|PMID:11713529|PMID:11741197|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12124399|PMID:12149194|PMID:12702481|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1347969|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:13892631|PMID:1390250|PMID:14084634|PMID:14091853|PMID:14133899|PMID:1427786|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14808148|PMID:14973|PMID:15000665|PMID:15114532|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16114182|PMID:16175509|PMID:16291734|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:1693293|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17576681|PMID:1769663|PMID:17774955|PMID:17932132|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18192399|PMID:18294253|PMID:18391696|PMID:18568278|PMID:18603555|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1911355|PMID:1917531|PMID:19465909|PMID:19486366|PMID:1960615|PMID:1967205|PMID:19758965|PMID:19841268|PMID:1986365|PMID:2004023|PMID:20132300|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20628988|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23055791|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23590658|PMID:23591685|PMID:23637309|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24245819|PMID:24368026|PMID:2442092|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:2467892|PMID:24857915|PMID:24880717|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25155404|PMID:25370867|PMID:25480500|PMID:25488433|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25741868|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26097845|PMID:2612904|PMID:26275168|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26554862|PMID:26593421|PMID:26661037|PMID:26897028|PMID:26956563|PMID:27117572|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:274732|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28546763|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28868125|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2920213|PMID:29669226|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:3031297|PMID:30315176|PMID:30430274|PMID:3048433|PMID:30604644|PMID:30626236|PMID:30704988|PMID:31096791|PMID:31130284|PMID:31268351|PMID:31456457|PMID:31553106|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31788855|PMID:31899996|PMID:31973650|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32371413|PMID:32420772|PMID:32527859|PMID:3267215|PMID:32982166|PMID:33000750|PMID:33091040|PMID:33116287|PMID:3354556|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34749363|PMID:35064169|PMID:35330400|PMID:36073655|PMID:36106931|PMID:36695330|PMID:36898140
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:736606	D	RGD:8554872	20250225	ClinVar		ClinVar Annotator: match by term: A-Thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia	PMID:3690667|PMID:37028505|PMID:37034522|PMID:37265972|PMID:37381791|PMID:3752087|PMID:37554704|PMID:37826942|PMID:37895316|PMID:3821796|PMID:3838975|PMID:3840039|PMID:3859465|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4625560|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5660684|PMID:5863839|PMID:5915974|PMID:5964983|PMID:6019668|PMID:6061750|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292841|PMID:6304979|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6714226|PMID:6821648|PMID:6895866|PMID:6896219|PMID:6956887|PMID:6985481|PMID:7137165|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7320200|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7668219|PMID:7908281|PMID:7993409|PMID:8095930|PMID:81926|PMID:8199597|PMID:8201467|PMID:8280608|PMID:8330981|PMID:8373896|PMID:8378346|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8619407|PMID:8839873|PMID:88735|PMID:893136|PMID:9028827|PMID:909565|PMID:9101288|PMID:9140720|PMID:9163586|PMID:9342003|PMID:9536098|PMID:9556665|PMID:9653159|PMID:9834244|PMID:9859938
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1099	alpha thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN KENITRA | ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU | ClinVar Annotator: match by term: alpha Thalassemia	PMID:11186258|PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18473247|PMID:18603555|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:23591685|PMID:23637309|PMID:2393712|PMID:24123366|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27690257|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:32126744|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:3838975|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6826539|PMID:7384810|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:736606	D	RGD:9068941	20260507	RGD		associated with critical COVID-19;mRNA:altered expression:peripheral blood mononuclear cell	PMID:39161760|REF_RGD_ID:632527147
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:11394	adult respiratory distress syndrome	susceptibility	ISO	RGD:736606	D	RGD:9068941	20260507	RGD		protein:increased glycation:blood	PMID:39421542|REF_RGD_ID:645244046
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:11714	gestational diabetes	treatment	ISO	RGD:736606	D	RGD:9068941	20260502	RGD			PMID:39262735|REF_RGD_ID:645238748
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:11830	myopia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:17932132|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:2467892|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25113778|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27254408|PMID:27823958|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28802248|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31268351|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34749363|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6434492|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:7240710	20180130	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:10081986|PMID:10203101|PMID:10233364|PMID:10335988|PMID:10335989|PMID:10367791|PMID:10520021|PMID:1052173|PMID:1052174|PMID:10569722|PMID:10569730|PMID:10583251|PMID:10602954|PMID:10606872|PMID:10612821|PMID:10706767|PMID:10756381|PMID:10776695|PMID:10815781|PMID:10840054|PMID:10861818|PMID:10870880|PMID:10870887|PMID:10975446|PMID:10997336|PMID:11001883|PMID:11074564|PMID:1112610|PMID:11167851|PMID:11179419|PMID:11186258|PMID:11186262|PMID:11186264|PMID:11279660|PMID:11300343|PMID:11300348|PMID:11300351|PMID:11300352|PMID:11300355|PMID:11425418|PMID:11480785|PMID:1148394|PMID:11523095|PMID:11532628|PMID:11545326|PMID:11559932|PMID:11570721|PMID:1163074|PMID:1164567|PMID:11713529|PMID:11722417|PMID:11734002|PMID:1173714|PMID:11741197|PMID:11757720|PMID:1177278|PMID:11791873|PMID:11791874|PMID:11791878|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939506|PMID:11939508|PMID:11939510|PMID:11939511|PMID:11939518|PMID:11939519|PMID:11943067|PMID:12000828|PMID:12124399|PMID:12139763|PMID:12144055|PMID:12144056|PMID:12144057|PMID:12144059|PMID:12144064|PMID:12144066|PMID:12149194|PMID:12172041|PMID:12189174|PMID:12210807|PMID:12324499|PMID:12353305|PMID:12368169|PMID:12383672|PMID:12403488|PMID:12403491|PMID:12403498|PMID:12430907|PMID:1244906|PMID:12488606|PMID:12508270|PMID:12621249|PMID:12702481|PMID:12709369|PMID:1272328|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12885342|PMID:12908806|PMID:12955718|PMID:1301199|PMID:1301203|PMID:1301930|PMID:1301952|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13509426|PMID:1353069|PMID:13590135|PMID:13618691|PMID:13634986|PMID:13685866|PMID:13716727|PMID:13716853|PMID:1374896|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13897827|PMID:1390250|PMID:13911805|PMID:1398296|PMID:14081243|PMID:14084634|PMID:14160125|PMID:14197371|PMID:14198723|PMID:1420507|PMID:1427786|PMID:14282052|PMID:1428943|PMID:1428944|PMID:1428946|PMID:1428947|PMID:14311973|PMID:14343445|PMID:14370233|PMID:14405428|PMID:14452533|PMID:14492555|PMID:14555304|PMID:14555318|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14649318|PMID:14715623|PMID:14734204|PMID:14808148|PMID:1483699|PMID:1487424|PMID:14973|PMID:15000665|PMID:15008262|PMID:15008267|PMID:15009072|PMID:15065210|PMID:15108284|PMID:15114532|PMID:1511973|PMID:15153712|PMID:1515453|PMID:1515649|PMID:1517107|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:15333505|PMID:15345105|PMID:1536956|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15470216|PMID:15481884|PMID:15481885|PMID:15481886|PMID:15481891|PMID:15481893|PMID:15481896|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658190|PMID:15658193|PMID:15697092|PMID:15761692|PMID:15768552|PMID:15768557|PMID:1577489|PMID:1581247|PMID:1586746|PMID:15929117|PMID:15933066|PMID:15973412|PMID:15977037|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16114184|PMID:16114187|PMID:16114188|PMID:16126871|PMID:16175509|PMID:16178917|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:1634366|PMID:1634368|PMID:16370487|PMID:16370495|PMID:16421096|PMID:16466947|PMID:16470532|PMID:16540414|PMID:16540415|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:1698102|PMID:16987798|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1705411|PMID:1709134|PMID:17145605|PMID:1716997|PMID:1717406|PMID:1719807|PMID:17278112|PMID:1728311|PMID:17287491|PMID:1729892|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486497|PMID:17486498|PMID:17486505|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654075|PMID:17655700|PMID:1769663|PMID:1772786|PMID:17768122|PMID:17774955|PMID:1777603|PMID:1787101|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353352|PMID:20353353|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358|PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:27265760|PMID:2730955|PMID:27339814|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:27981798|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010|PMID:31146650|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:31397596|PMID:31456457|PMID:31476942|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147|PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33179747|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:3387213|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:3417300|PMID:3422218|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34659349|PMID:34690349|PMID:34749363|PMID:35023007|PMID:35119136|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35979587|PMID:36073655|PMID:36184|PMID:3623977|PMID:36519257|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:37217151|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4101432|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:604313|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242|PMID:7713749|PMID:7755625|PMID:7759073|PMID:7794779|PMID:7795641|PMID:7819068|PMID:7852087|PMID:7852088|PMID:7852091|PMID:7860732|PMID:7864023|PMID:7899267|PMID:7907594|PMID:7908281|PMID:7909640|PMID:7928376|PMID:7929232|PMID:7993409|PMID:8019567|PMID:8037185|PMID:8037197|PMID:8042613|PMID:808079|PMID:8081396|PMID:8091935|PMID:8094943|PMID:8095930
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN CITY OF HOPE | ClinVar Annotator: match by term: HEMOGLOBIN DEER LODGE | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:8111050|PMID:8112743|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:826073|PMID:8262525|PMID:8270260|PMID:8318995|PMID:8330972|PMID:8330981|PMID:8338769|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8485062|PMID:8494004|PMID:8518184|PMID:8537236|PMID:8562944|PMID:8602996|PMID:8619407|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718699|PMID:8718703|PMID:8811316|PMID:8839873|PMID:8856098|PMID:88735|PMID:8874232|PMID:8889595|PMID:8917506|PMID:891976|PMID:893136|PMID:893139|PMID:8952150|PMID:8978308|PMID:8980256|PMID:8990020|PMID:9028819|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163585|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9234571|PMID:932531|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9427726|PMID:9450794|PMID:9490703|PMID:9494047|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9560205|PMID:9586437|PMID:9625056|PMID:9629504|PMID:9653159|PMID:9730368|PMID:974261|PMID:9785927|PMID:9792288|PMID:9830011|PMID:9834244|PMID:9845707|PMID:9846016|PMID:9859938|PMID:9875660|PMID:992050|PMID:993333|PMID:9949622|PMID:998617
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18081706|PMID:18096416|PMID:18105244|PMID:1814858|PMID:18192399|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18403562|PMID:18473247|PMID:18473248|PMID:18486569|PMID:18495504|PMID:1850955|PMID:18523401|PMID:18568278|PMID:1856830|PMID:18591626|PMID:18603555|PMID:18619001|PMID:18654889|PMID:18694524|PMID:1873227|PMID:18759082|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18932067|PMID:18932071|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19034506|PMID:19061217|PMID:19092326|PMID:19103851|PMID:19125249|PMID:1917531|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19290524|PMID:19372376|PMID:19429541|PMID:19437135|PMID:19440680|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:19500561|PMID:1951306|PMID:1954392|PMID:1958498|PMID:1960615|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1967205|PMID:1971109|PMID:19727720|PMID:1974422|PMID:19750260|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:1995096|PMID:19958184|PMID:19958185|PMID:19958198|PMID:19960060|PMID:2001456|PMID:20035706|PMID:2004023|PMID:2005117|PMID:20110664|PMID:20113284|PMID:20113289|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20230396|PMID:20233970|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20324533|PMID:20353352|PMID:20353353|PMID:20353354|PMID:20395516|PMID:20406103|PMID:20412082|PMID:2043469|PMID:20437613|PMID:20492708|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642336|PMID:20642337|PMID:2064964|PMID:2070092|PMID:20704537|PMID:2071159|PMID:20737602|PMID:20788973|PMID:2079434|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20854126|PMID:20861612|PMID:20942|PMID:20954261|PMID:20975770|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21194265|PMID:2120891|PMID:21228398|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21704277|PMID:21732929|PMID:21733559|PMID:21797702|PMID:21797703|PMID:21801233|PMID:21845419|PMID:21879898|PMID:21892914|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22075726|PMID:22089620|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:2232267|PMID:22335963|PMID:22356097|PMID:22392582|PMID:2239966|PMID:22409273|PMID:22563936|PMID:22625666|PMID:2265836|PMID:22675570|PMID:22690826|PMID:2272839|PMID:2272840|PMID:22734501|PMID:22734587|PMID:22737496|PMID:22738610|PMID:22738642|PMID:2283297|PMID:2283299|PMID:2283300|PMID:2283303|PMID:22851993|PMID:22875618|PMID:22896714|PMID:22898041|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:2298920|PMID:23001606|PMID:2306523|PMID:23065522|PMID:2307460|PMID:23094636|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23362932|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23510507|PMID:23525874|PMID:23586372|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23606168|PMID:23637309|PMID:23651435|PMID:2366586|PMID:23665927|PMID:23729725|PMID:237566|PMID:2375910|PMID:2375912|PMID:23806067|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23889802|PMID:23915319|PMID:2393018|PMID:2393712|PMID:239952|PMID:2399911|PMID:24033266|PMID:24052702|PMID:24052746|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24245819|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24368026|PMID:24369358
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:24385794|PMID:2439149|PMID:24401016|PMID:2440502|PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:24581976|PMID:2460127|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24682197|PMID:24719849|PMID:24744638|PMID:24744675|PMID:24754789|PMID:24777453|PMID:24814631|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24957539|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25244406|PMID:2525253|PMID:25268796|PMID:25332589|PMID:25355712|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:2542242|PMID:25469539|PMID:25471338|PMID:25480500|PMID:25488433|PMID:25523871|PMID:25525159|PMID:25525381|PMID:25526804|PMID:25541274|PMID:25572182|PMID:25572186|PMID:25572187|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25666204|PMID:25669128|PMID:25677748|PMID:25682598|PMID:25741868|PMID:25741895|PMID:25754248|PMID:25762031|PMID:2577233|PMID:2579336|PMID:25806420|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25905082|PMID:25910213|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26041423|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26097845|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26202972|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26291972|PMID:2634667|PMID:2634674|PMID:26351951|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26402558|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26544676|PMID:26554253|PMID:26554738|PMID:26554862|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26897028|PMID:26901597|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:2703363|PMID:2703366|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:27132|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27264598|PMID:27265760|PMID:2730955|PMID:27351925|PMID:2736244|PMID:27408413|PMID:2741940|PMID:27427187|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27521862|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27718361|PMID:2775294|PMID:27756326|PMID:27765567|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27829304|PMID:27848919|PMID:27884173|PMID:27979672|PMID:2804366|PMID:28125089|PMID:2816924|PMID:2822177|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:2837728|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28667000|PMID:28670940|PMID:28670947|PMID:28671035|PMID:2867271|PMID:28680605|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28800727|PMID:28802248|PMID:28865746|PMID:2887538|PMID:2888754|PMID:28904057|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2897787|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:2903765|PMID:29076137|PMID:29082517|PMID:29157184|PMID:2915972|PMID:2917118|PMID:29171316|PMID:2917193|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:2930724|PMID:29313434|PMID:29319890|PMID:29365076|PMID:29379553|PMID:29403210|PMID:29464999|PMID:29484903|PMID:29695942|PMID:29717566|PMID:2987224|PMID:2987809|PMID:29893155|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:3024968|PMID:30275481|PMID:30309760|PMID:3031297|PMID:30315176|PMID:30422720|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30501529|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30809867|PMID:30820323|PMID:30843739|PMID:3108201|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31126755|PMID:31130284|PMID:31134759|PMID:31139532|PMID:3114175|PMID:31145010
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Beta zero thalassemia | ClinVar Annotator: match by term: Beta-Houston-thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN CARIBBEAN | ClinVar Annotator: match by term: HEMOGLOBIN E (SASKATOON) | ClinVar Annotator: match by term: beta Thalassemia	PMID:31146650|PMID:3115700|PMID:31164695|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31286593|PMID:31304856|PMID:3130858|PMID:31394941|PMID:31395865|PMID:31397596|PMID:31456457|PMID:31476942|PMID:31553106|PMID:31589614|PMID:3170235|PMID:3170240|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31890591|PMID:31934147|PMID:31973650|PMID:32001505|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32142096|PMID:32190157|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:3260032|PMID:32672086|PMID:3267215|PMID:32674615|PMID:32722952|PMID:32860008|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33179747|PMID:33244864|PMID:33287582|PMID:33335418|PMID:3343245|PMID:33439495|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:3382401|PMID:33829933|PMID:3384706|PMID:3384712|PMID:33851260|PMID:33867742|PMID:3387213|PMID:33947296|PMID:33966551|PMID:33971252|PMID:3403716|PMID:3408672|PMID:34092029|PMID:34100337|PMID:3417300|PMID:3422218|PMID:34233561|PMID:34258108|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:3446652|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34659349|PMID:34690349|PMID:34749363|PMID:34915846|PMID:35023007|PMID:35052472|PMID:35119136|PMID:35336809|PMID:3557993|PMID:3557998|PMID:35615994|PMID:35705926|PMID:35979587|PMID:35982159|PMID:35982160|PMID:36073655|PMID:36184|PMID:3623977|PMID:36519257|PMID:3671081|PMID:3683554|PMID:3689700|PMID:3690667|PMID:3691763|PMID:37217151|PMID:3752087|PMID:3754244|PMID:3758492|PMID:3768534|PMID:3780671|PMID:3799593|PMID:3821796|PMID:3828533|PMID:3838975|PMID:3839771|PMID:3840039|PMID:3859465|PMID:3866233|PMID:3923770|PMID:393|PMID:3937827|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3957922|PMID:4018033|PMID:4078867|PMID:4086303|PMID:4086306|PMID:4101432|PMID:4129558|PMID:4232783|PMID:429843|PMID:4351905|PMID:4361439|PMID:4407364|PMID:4413625|PMID:4512457|PMID:4514958|PMID:4525423|PMID:457425|PMID:457426|PMID:4683875|PMID:4808644|PMID:4808645|PMID:4841979|PMID:49057|PMID:4942314|PMID:4981790|PMID:4991321|PMID:4994348|PMID:5022448|PMID:5050915|PMID:5059650|PMID:5079107|PMID:5097135|PMID:5129589|PMID:5283757|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5634912|PMID:5637049|PMID:5658717|PMID:5672850|PMID:5710451|PMID:5713642|PMID:5722880|PMID:5773089|PMID:5785231|PMID:5791015|PMID:5851873|PMID:5856115|PMID:5863839|PMID:5869485|PMID:5881530|PMID:5886928|PMID:5915974|PMID:5925329|PMID:5961314|PMID:5972415|PMID:598514|PMID:5996551|PMID:6016610|PMID:6019668|PMID:6021187|PMID:6029950|PMID:6033745|PMID:6034218|PMID:604313|PMID:6050213|PMID:6054484|PMID:6067323|PMID:6086605|PMID:6089938|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:622390|PMID:6246994|PMID:6248489|PMID:6251466|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6271242|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6280138|PMID:6285354|PMID:6292840|PMID:6298782|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6322284|PMID:640855|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6500990|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6629828|PMID:6646217|PMID:6664996|PMID:6668188|PMID:6671904|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6769116|PMID:6821648|PMID:6826539|PMID:6852251|PMID:6859036|PMID:6863429|PMID:6896219|PMID:6985481|PMID:700140|PMID:7076659|PMID:7104238|PMID:711920|PMID:7137165|PMID:7141876|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7190137|PMID:7204093|PMID:7204096|PMID:7204097|PMID:721611|PMID:721614|PMID:7229029|PMID:7312624|PMID:7338475|PMID:7357091|PMID:7372598|PMID:7384810|PMID:7395858|PMID:7505125|PMID:750553|PMID:750554|PMID:7507641|PMID:7522523|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7655036|PMID:7663000|PMID:7668219|PMID:7668221|PMID:7669681|PMID:7683931|PMID:7691242
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETA-THALASSEMIA, DOMINANT | ClinVar Annotator: match by term: Beta Thalassemia | ClinVar Annotator: match by term: Beta thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN HRADEC KRALOVE | ClinVar Annotator: match by term: HEMOGLOBIN J (RAMBAM) | ClinVar Annotator: match by term: HEMOGLOBIN MISSISSIPPI | ClinVar Annotator: match by term: beta Thalassemia | ClinVar Annotator: match by term: beta-Thalassemia | ClinVar Annotator: match by term: dominant Beta Thalassemia	PMID:10233364|PMID:10331503|PMID:10335984|PMID:10367791|PMID:10490138|PMID:10569722|PMID:10606872|PMID:10636742|PMID:10691857|PMID:10706767|PMID:10756381|PMID:10815781|PMID:10840054|PMID:10846826|PMID:10870889|PMID:10997336|PMID:11074564|PMID:11186258|PMID:11186262|PMID:11300343|PMID:11300348|PMID:11480785|PMID:11532628|PMID:11559932|PMID:11559936|PMID:11570721|PMID:11722417|PMID:11757720|PMID:11791873|PMID:11830454|PMID:11857738|PMID:11857746|PMID:11880644|PMID:11939519|PMID:11943067|PMID:1201208|PMID:12124399|PMID:12127975|PMID:12139763|PMID:12144055|PMID:12144057|PMID:12172041|PMID:12324499|PMID:12368169|PMID:12403232|PMID:12403488|PMID:12403498|PMID:12430907|PMID:12458204|PMID:1246355|PMID:12508270|PMID:12651274|PMID:12709369|PMID:12752111|PMID:12764548|PMID:12779270|PMID:12779277|PMID:12829441|PMID:12885342|PMID:12908806|PMID:12955718|PMID:12962322|PMID:1301930|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:1390250|PMID:14084634|PMID:14198723|PMID:1420507|PMID:1428946|PMID:14311973|PMID:14555304|PMID:14555318|PMID:14576320|PMID:1463768|PMID:14642006|PMID:14686490|PMID:14715623|PMID:14734204|PMID:1483699|PMID:1486039|PMID:15008262|PMID:15009072|PMID:15108284|PMID:1511973|PMID:15153712|PMID:1515649|PMID:1517108|PMID:1517109|PMID:1517110|PMID:1517111|PMID:15181845|PMID:15182058|PMID:15278762|PMID:15315794|PMID:1536956|PMID:1545796|PMID:15477200|PMID:15481884|PMID:15481885|PMID:15481893|PMID:15481896|PMID:15486951|PMID:1550780|PMID:15543018|PMID:15641237|PMID:15654898|PMID:15658184|PMID:15658193|PMID:15741802|PMID:15761692|PMID:15767753|PMID:1577489|PMID:1581247|PMID:1586746|PMID:16020116|PMID:16114184|PMID:16114187|PMID:16126871|PMID:16189162|PMID:16199547|PMID:16225661|PMID:16266911|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634358|PMID:1634368|PMID:16466947|PMID:16821247|PMID:1686262|PMID:16987796|PMID:16987801|PMID:17007829|PMID:17008283|PMID:1716997|PMID:1717406|PMID:1719807|PMID:1728311|PMID:1729892|PMID:17331080|PMID:1734721|PMID:17365003|PMID:17365005|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486495|PMID:17486497|PMID:17486505|PMID:17516066|PMID:17565724|PMID:17576681|PMID:17598223|PMID:17606453|PMID:17654071|PMID:17654503|PMID:1769663|PMID:1772786|PMID:1777603|PMID:17900295|PMID:17932132|PMID:17949282|PMID:17994378|PMID:1802884|PMID:18056002|PMID:18071703|PMID:18076350|PMID:18096416|PMID:18266208|PMID:18294253|PMID:18339318|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18473248|PMID:1850955|PMID:18603555|PMID:18654889|PMID:18694524|PMID:18728358|PMID:1873227|PMID:18793248|PMID:18818920|PMID:18829352|PMID:1891024|PMID:18954999|PMID:1897518|PMID:18976160|PMID:19000664|PMID:19038075|PMID:19061217|PMID:19103851|PMID:19125249|PMID:1917531|PMID:1917535|PMID:19205970|PMID:19205975|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19488752|PMID:1954392|PMID:19631632|PMID:19657836|PMID:19657842|PMID:1971109|PMID:19734427|PMID:1974422|PMID:19758965|PMID:1983219|PMID:1986379|PMID:1995096|PMID:20035706|PMID:2004023|PMID:20113295|PMID:20113296|PMID:20132300|PMID:2014803|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20395516|PMID:20406103|PMID:20412082|PMID:20437613|PMID:20472475|PMID:20524821|PMID:20532507|PMID:20628988|PMID:20642336|PMID:20642337|PMID:2064964|PMID:20704537|PMID:2071159|PMID:20854118|PMID:20861612|PMID:20863160|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21232998|PMID:21250876|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21333566|PMID:21353607|PMID:21389146|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21599435|PMID:2167124|PMID:21704277|PMID:21797702|PMID:21879898|PMID:21931510|PMID:2197725|PMID:21978377|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:2207008|PMID:22074124|PMID:22109911|PMID:22110956|PMID:22122796|PMID:2214342|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22233277|PMID:22239493|PMID:22244832|PMID:22271886|PMID:22335963|PMID:22392582|PMID:22409273
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETA-THALASSEMIA, DOMINANT | ClinVar Annotator: match by term: Beta Thalassemia | ClinVar Annotator: match by term: Beta thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN HRADEC KRALOVE | ClinVar Annotator: match by term: HEMOGLOBIN J (RAMBAM) | ClinVar Annotator: match by term: HEMOGLOBIN MISSISSIPPI | ClinVar Annotator: match by term: beta Thalassemia | ClinVar Annotator: match by term: beta-Thalassemia | ClinVar Annotator: match by term: dominant Beta Thalassemia	PMID:22563936|PMID:22625666|PMID:22675570|PMID:22686296|PMID:2272839|PMID:2272840|PMID:22734587|PMID:22738610|PMID:22738642|PMID:22771911|PMID:2283297|PMID:22851993|PMID:22875618|PMID:22896714|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:22981786|PMID:22983591|PMID:2298457|PMID:22992010|PMID:2306523|PMID:23065522|PMID:2307460|PMID:2307560|PMID:23106651|PMID:2310691|PMID:23129722|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23398055|PMID:23425204|PMID:23431002|PMID:23457306|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23651435|PMID:23665927|PMID:237566|PMID:23812938|PMID:23859443|PMID:23878091|PMID:23906453|PMID:2393712|PMID:2399911|PMID:24052702|PMID:24055728|PMID:24065537|PMID:24080465|PMID:24086942|PMID:24099628|PMID:24106605|PMID:24123366|PMID:24200101|PMID:24200214|PMID:2424301|PMID:24265529|PMID:2430648|PMID:2434529|PMID:24369358|PMID:2439149|PMID:24401016|PMID:2440502|PMID:24450243|PMID:2446680|PMID:24493127|PMID:2456798|PMID:2458145|PMID:2462940|PMID:2467892|PMID:24719849|PMID:24744638|PMID:24754789|PMID:24828949|PMID:24857915|PMID:24878022|PMID:24880717|PMID:24986053|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25203083|PMID:25268796|PMID:25332589|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25469539|PMID:25480500|PMID:25525159|PMID:25525381|PMID:25541274|PMID:25572186|PMID:25617386|PMID:2563949|PMID:25657036|PMID:25677748|PMID:25682598|PMID:25707679|PMID:25741868|PMID:2577233|PMID:25806420|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25905082|PMID:25910213|PMID:25976460|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:26041423|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26096710|PMID:26119666|PMID:26182339|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:2634674|PMID:26372199|PMID:26372288|PMID:26410419|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26524961|PMID:26594346|PMID:26635043|PMID:2665856|PMID:26715484|PMID:26771086|PMID:26850598|PMID:26877226|PMID:26948378|PMID:26956563|PMID:2703241|PMID:27032675|PMID:27090252|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27258795|PMID:27263053|PMID:2730955|PMID:27351925|PMID:2737909|PMID:2741940|PMID:27453201|PMID:27492766|PMID:2752127|PMID:27521855|PMID:27535164|PMID:2753736|PMID:27651169|PMID:27690257|PMID:27756326|PMID:27785405|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829298|PMID:27884173|PMID:2804366|PMID:28125089|PMID:28143837|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28395541|PMID:28433609|PMID:284392|PMID:28460555|PMID:28475449|PMID:28492532|PMID:28503568|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28669403|PMID:28670940|PMID:28670947|PMID:28671035|PMID:28674233|PMID:287080|PMID:2875755|PMID:28768465|PMID:28794124|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2897787|PMID:2898955|PMID:2901867|PMID:2915972|PMID:2917118|PMID:29182041|PMID:29188602|PMID:2920213|PMID:2920214|PMID:2921044|PMID:29240028|PMID:29251008|PMID:29295702|PMID:29313434|PMID:29365076|PMID:29379553|PMID:29405650|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29669226|PMID:29695942|PMID:29700171|PMID:29761313|PMID:2987809|PMID:29893155|PMID:2998970|PMID:30002798|PMID:3002527|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3014870|PMID:30173596|PMID:30205726|PMID:3021139|PMID:3021607|PMID:30249157|PMID:30275481|PMID:30315176|PMID:30422720|PMID:30423154|PMID:30451045|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626236|PMID:30720081|PMID:30777047|PMID:30837609|PMID:30843739|PMID:30868793|PMID:3101357|PMID:31096791|PMID:31106603|PMID:31108495|PMID:31124399|PMID:31134759|PMID:31149860|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31286593|PMID:31304856
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETA-THALASSEMIA, DOMINANT | ClinVar Annotator: match by term: Beta Thalassemia | ClinVar Annotator: match by term: Beta thalassemia | ClinVar Annotator: match by term: Beta-thalassemia HBB/LCRB | ClinVar Annotator: match by term: Dominant beta-thalassemia | ClinVar Annotator: match by term: HEMOGLOBIN AUBAGNE | ClinVar Annotator: match by term: HEMOGLOBIN HRADEC KRALOVE | ClinVar Annotator: match by term: HEMOGLOBIN J (RAMBAM) | ClinVar Annotator: match by term: HEMOGLOBIN MISSISSIPPI | ClinVar Annotator: match by term: beta Thalassemia | ClinVar Annotator: match by term: beta-Thalassemia | ClinVar Annotator: match by term: dominant Beta Thalassemia	PMID:31372199|PMID:31395865|PMID:31397596|PMID:31411089|PMID:31424305|PMID:31476942|PMID:31553106|PMID:31589614|PMID:31690135|PMID:31714438|PMID:31718331|PMID:31788855|PMID:31903828|PMID:31934147|PMID:31980563|PMID:32001505|PMID:32069775|PMID:32126744|PMID:32172616|PMID:32190157|PMID:32296912|PMID:32406020|PMID:32412692|PMID:32420772|PMID:32527859|PMID:32581362|PMID:32664780|PMID:3267215|PMID:32674697|PMID:32722952|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32986258|PMID:33092414|PMID:33116287|PMID:33198537|PMID:33244864|PMID:33335418|PMID:33491330|PMID:33602051|PMID:33734896|PMID:33735615|PMID:33829933|PMID:33851260|PMID:3387213|PMID:33901469|PMID:33947296|PMID:33979976|PMID:3403716|PMID:34060411|PMID:3408672|PMID:34092029|PMID:34100337|PMID:3422218|PMID:34258108|PMID:34272389|PMID:34293487|PMID:34334128|PMID:34362515|PMID:34426522|PMID:34474730|PMID:3457470|PMID:3462712|PMID:34662886|PMID:34708592|PMID:34749363|PMID:34794358|PMID:34815527|PMID:34850464|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35378860|PMID:35402459|PMID:35403941|PMID:35535583|PMID:35543019|PMID:35705926|PMID:36054783|PMID:36073655|PMID:36226750|PMID:36246595|PMID:36410789|PMID:36534489|PMID:36625083|PMID:3671081|PMID:36752381|PMID:3683554|PMID:36890736|PMID:3689700|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37270807|PMID:37391652|PMID:37491848|PMID:37671080|PMID:37742714|PMID:37826942|PMID:3828533|PMID:38406508|PMID:38504512|PMID:38519604|PMID:38523675|PMID:38649152|PMID:38708170|PMID:39143497|PMID:39359944|PMID:3942130|PMID:3955238|PMID:3957690|PMID:3957694|PMID:39696913|PMID:39858575|PMID:40485898|PMID:41557141|PMID:4212046|PMID:4232783|PMID:4361439|PMID:4683875|PMID:4808644|PMID:4808645|PMID:4942314|PMID:500379|PMID:5059650|PMID:5097135|PMID:5120550|PMID:5124025|PMID:5481775|PMID:5637049|PMID:5856126|PMID:5925329|PMID:6030043|PMID:6048303|PMID:6089938|PMID:6101206|PMID:6129204|PMID:6162860|PMID:6188062|PMID:6190800|PMID:6251466|PMID:6268660|PMID:6270663|PMID:6280057|PMID:6280138|PMID:6292840|PMID:6298782|PMID:6308558|PMID:6309649|PMID:6310991|PMID:6316272|PMID:6318797|PMID:6320218|PMID:6434492|PMID:6469698|PMID:6480363|PMID:6583683|PMID:6583702|PMID:6585831|PMID:668922|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6826539|PMID:6853709|PMID:6859036|PMID:6863429|PMID:6874372|PMID:6985481|PMID:701085|PMID:7068436|PMID:7092797|PMID:7104238|PMID:7151176|PMID:7173395|PMID:7204093|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:7530406|PMID:7558874|PMID:7558878|PMID:7558879|PMID:7599641|PMID:7615400|PMID:7632967|PMID:7668221|PMID:7669681|PMID:7693620|PMID:7759073|PMID:7794779|PMID:7795641|PMID:7852087|PMID:7860732|PMID:7928376|PMID:7961689|PMID:8019567|PMID:8037197|PMID:8091935|PMID:8094943|PMID:8144351|PMID:8144354|PMID:8144356|PMID:8144357|PMID:8144358|PMID:8161774|PMID:8168595|PMID:8199027|PMID:8225319|PMID:8226093|PMID:8226099|PMID:8251381|PMID:8257991|PMID:8262525|PMID:8270260|PMID:8294201|PMID:8318994|PMID:8318995|PMID:8330973|PMID:8330978|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8438884|PMID:8477263|PMID:8485062|PMID:8535446|PMID:8562944|PMID:8629112|PMID:8638609|PMID:8682512|PMID:8703815|PMID:8718703|PMID:8856098|PMID:88735|PMID:8874232|PMID:8891722|PMID:8978308|PMID:9028819|PMID:9048934|PMID:9101282|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9340427|PMID:9342003|PMID:9353871|PMID:9371531|PMID:9401495|PMID:9415845|PMID:9494052|PMID:9494053|PMID:9495372|PMID:9536098|PMID:9560205|PMID:9629504|PMID:974261|PMID:9761252|PMID:9792288|PMID:9875660|PMID:9949622|PMID:998617
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12241	beta thalassemia	treatment	ISO	RGD:736606	D	RGD:9068941	20200609	RGD			PMID:16631345|REF_RGD_ID:11353868
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12365	malaria		ISO	RGD:736606	D	RGD:7240710	20230505	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12365	malaria		ISO	RGD:736606	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:10203101|PMID:10335989|PMID:10583251|PMID:10606872|PMID:10612821|PMID:10815781|PMID:11001883|PMID:1112610|PMID:11179419|PMID:11186258|PMID:11300348|PMID:11425418|PMID:11501714|PMID:11559932|PMID:11570721|PMID:11713529|PMID:11741197|PMID:11791873|PMID:11830454|PMID:11857746|PMID:11880644|PMID:11939508|PMID:11939510|PMID:12000828|PMID:12124399|PMID:12144057|PMID:12149194|PMID:12368169|PMID:12383672|PMID:12403498|PMID:12702481|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12850492|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13618691|PMID:13685866|PMID:13716853|PMID:1376298|PMID:13852872|PMID:1390250|PMID:14084634|PMID:14091853|PMID:1427786|PMID:1428944|PMID:14405428|PMID:14492555|PMID:14555304|PMID:14576320|PMID:14613965|PMID:1463768|PMID:14734204|PMID:14808148|PMID:1483699|PMID:14973|PMID:15000665|PMID:15108284|PMID:15114532|PMID:15181845|PMID:15278762|PMID:15395398|PMID:1545796|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15654898|PMID:15658184|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16103715|PMID:1610915|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634368|PMID:16421096|PMID:16470532|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1709134|PMID:17145605|PMID:17278112|PMID:17287491|PMID:1732017|PMID:17331080|PMID:1734721|PMID:17365006|PMID:17486505|PMID:17576681|PMID:17654071|PMID:1769663|PMID:17774955|PMID:17932132|PMID:17949282|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18096416|PMID:18192399|PMID:18294253|PMID:18568278|PMID:18603555|PMID:1873227|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19092326|PMID:1911355|PMID:1917531|PMID:19254853|PMID:19429541|PMID:19465909|PMID:19486366|PMID:1960615|PMID:19657836|PMID:19657842|PMID:1967205|PMID:19727720|PMID:19734427|PMID:19758965|PMID:19841268|PMID:1986365|PMID:1986379|PMID:19960060|PMID:2001456|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20353354|PMID:20395516|PMID:20412082|PMID:20437613|PMID:20628988|PMID:20642336|PMID:2064964|PMID:20704537|PMID:20737602|PMID:20788973|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:21194254|PMID:21228398|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21509314|PMID:21529713|PMID:21732929|PMID:21797703|PMID:2197725|PMID:2200760|PMID:2200762|PMID:22010933|PMID:22028795|PMID:22075726|PMID:22110956|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22563936|PMID:22625666|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23457306|PMID:2346726|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23812938|PMID:23859443|PMID:2393712|PMID:24052702|PMID:24055728|PMID:24099628|PMID:24106605|PMID:2412200|PMID:24123366|PMID:24200214|PMID:24245819|PMID:2430648|PMID:24368026|PMID:24369358|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24616209|PMID:2467892|PMID:24754789|PMID:24777453|PMID:24857915|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25666204|PMID:25677748|PMID:25741868|PMID:2577233|PMID:2579336|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599884|PMID:26029792|PMID:26041415|PMID:26044735|PMID:2606476|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26084319|PMID:26097845|PMID:26193974|PMID:26275168|PMID:26290351|PMID:26291967|PMID:2634667|PMID:26366554|PMID:26372199|PMID:26436569|PMID:26467025
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12365	malaria		ISO	RGD:736606	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Malaria, resistance to | ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:26554253|PMID:26554862|PMID:26594346|PMID:26661037|PMID:26771086|PMID:26897028|PMID:26956563|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:27427187|PMID:27453201|PMID:2753736|PMID:27690257|PMID:27756326|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:27979672|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28546763|PMID:28635337|PMID:28667000|PMID:28670940|PMID:2867271|PMID:28802248|PMID:28865746|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2903765|PMID:2920213|PMID:29295702|PMID:29319890|PMID:29484903|PMID:29695942|PMID:29700171|PMID:2987224|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30249157|PMID:3031297|PMID:30315176|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30820323|PMID:30843739|PMID:31096791|PMID:31130284|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31268351|PMID:31411089|PMID:31456457|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31788855|PMID:31890591|PMID:31899996|PMID:31903828|PMID:32039214|PMID:32069775|PMID:32126744|PMID:32165824|PMID:32190157|PMID:32412692|PMID:32420772|PMID:32472543|PMID:32527859|PMID:32581362|PMID:32664780|PMID:3267215|PMID:32860008|PMID:32869674|PMID:33000750|PMID:33091040|PMID:33116287|PMID:33335418|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33829933|PMID:33851260|PMID:34092029|PMID:3422218|PMID:34334128|PMID:34426522|PMID:3462712|PMID:34749363|PMID:35023007|PMID:35052472|PMID:35982159|PMID:35982160|PMID:36073655|PMID:3623977|PMID:3683554|PMID:3690667|PMID:3691763|PMID:3752087|PMID:37826942|PMID:3821796|PMID:3828533|PMID:3840039|PMID:3859465|PMID:3942130|PMID:3955238|PMID:3957690|PMID:4232783|PMID:4351905|PMID:4683875|PMID:5481775|PMID:5609824|PMID:5619995|PMID:5658717|PMID:5863839|PMID:5915974|PMID:6019668|PMID:6061750|PMID:6101206|PMID:6162860|PMID:6166632|PMID:6188062|PMID:6189507|PMID:6190800|PMID:6198908|PMID:6246994|PMID:6264391|PMID:6264477|PMID:6268660|PMID:6270663|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6304979|PMID:6308558|PMID:6310991|PMID:6316272|PMID:6320218|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6572978|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585831|PMID:6668188|PMID:6695908|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6896219|PMID:6985481|PMID:7076659|PMID:7104238|PMID:7137165|PMID:7151176|PMID:7173395|PMID:7177196|PMID:7229029|PMID:7312624|PMID:7384810|PMID:7395858|PMID:7522523|PMID:7558878|PMID:7668219|PMID:7683931|PMID:7795641|PMID:7852087|PMID:7908281|PMID:7909640|PMID:7993409|PMID:8095930|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8262525|PMID:8330981|PMID:8373896|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8602996|PMID:8619407|PMID:8718703|PMID:8839873|PMID:88735|PMID:8917506|PMID:893136|PMID:8980256|PMID:9028827|PMID:9048934|PMID:909565|PMID:9101288|PMID:9113933|PMID:9140720|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9340427|PMID:9342003|PMID:9401495|PMID:9450794|PMID:9490703|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9586437|PMID:9653159|PMID:9834244|PMID:9845707|PMID:9859938|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12365	malaria		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33735615|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12365	malaria	resistance	ISO	RGD:736606	D	RGD:9068941	20200609	RGD		Hemoglobin C; DNA:polymorphism:CDS:69G>A, amino acid E6K	PMID:11001883|REF_RGD_ID:1600894
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12449	aplastic anemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:15181845|PMID:18414926|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:33198537|PMID:40485898|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:12849	autistic disorder		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15181845|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18414926|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:23637309|PMID:24123366|PMID:24200214|PMID:24493127|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25741868|PMID:2582106|PMID:25849334|PMID:26041415|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26467025|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28635337|PMID:28671035|PMID:2888754|PMID:29484903|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:40485898|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:6714226|PMID:6826539|PMID:7384810|PMID:8294201|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1324	lung cancer		ISO	RGD:1617626	D	RGD:9068941	20260507	RGD		protein:decreased expression:lung	PMID:40496615|REF_RGD_ID:645244055
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:736606	D	RGD:9068941	20260507	RGD			PMID:40496615|REF_RGD_ID:645244055
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1324	lung cancer	treatment	ISO	RGD:736606	D	RGD:9068941	20260507	RGD			PMID:38679728|REF_RGD_ID:645244053
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1352	paranasal sinus disease		ISO	RGD:736606	D	RGD:9068941	20260502	RGD		associated with diabetes mellitus;protein:increased glycation:blood	PMID:25728620|REF_RGD_ID:645238749
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:14067	Plasmodium falciparum malaria		ISO	RGD:736606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20305663
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:14330	Parkinson's disease		ISO	RGD:736606	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, mitochondrion	PMID:24333691|REF_RGD_ID:10449046
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:736606	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:12000828|PMID:12383672|PMID:15181845|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:29484903|PMID:32165824|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933|PMID:9845707
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1485	cystic fibrosis		ISO	RGD:736606	D	RGD:9068941	20260430	RGD		protein:increased glycation:blood	PMID:1841815|REF_RGD_ID:645238729
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1496	echinococcosis		ISO	RGD:736606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24270252
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1584	acute chest syndrome		ISO	RGD:736606	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes	PMID:23952145|REF_RGD_ID:10449047
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1596	depressive disorder		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1826	epilepsy		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1827	generalized epilepsy		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:15181845|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1827	generalized epilepsy		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:15181845|PMID:18414926|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:33198537|PMID:40485898|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1882	atrial heart septal defect		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15181845|PMID:18414926|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:33198537|PMID:40485898|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:1909	melanoma		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2030	anxiety disorder		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2355	anemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anemia | ClinVar Annotator: match by term: HEMOGLOBIN HINSDALE	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:15181845|PMID:15543018|PMID:15658184|PMID:17932132|PMID:1802884|PMID:18414926|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:23637309|PMID:24123366|PMID:24200214|PMID:24493127|PMID:2467892|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25741868|PMID:2582106|PMID:25849334|PMID:26041415|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27254408|PMID:27823958|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:29484903|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31268351|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34749363|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6434492|PMID:6583683|PMID:6714226|PMID:6826539|PMID:7384810|PMID:8294201|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2361	macrocytic anemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2841	asthma		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20241119	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:1002699|PMID:10081984|PMID:10090486|PMID:10490144|PMID:10569722|PMID:10606872|PMID:10770934|PMID:10804732|PMID:10815781|PMID:10840054|PMID:10975438|PMID:11001883|PMID:11074564|PMID:11167851|PMID:1117598|PMID:11300348|PMID:1138885|PMID:11425418|PMID:11501714|PMID:11532628|PMID:11559932|PMID:1158862|PMID:1164510|PMID:11713529|PMID:11722417|PMID:11741197|PMID:1177278|PMID:11791873|PMID:11830454|PMID:11843890|PMID:11857746|PMID:11880644|PMID:11939510|PMID:12000828|PMID:1201208|PMID:12124399|PMID:12149194|PMID:12210807|PMID:1225575|PMID:12324499|PMID:12368169|PMID:12383672|PMID:12403491|PMID:12403498|PMID:1244906|PMID:1244915|PMID:12488606|PMID:12621249|PMID:12709369|PMID:12752111|PMID:12764548|PMID:12779277|PMID:12818227|PMID:12827652|PMID:12850492|PMID:12955718|PMID:1301203|PMID:13066514|PMID:13108995|PMID:13115700|PMID:13369537|PMID:13464827|PMID:13590135|PMID:13618691|PMID:13685866|PMID:13716725|PMID:13716853|PMID:13726693|PMID:1376298|PMID:1384315|PMID:13852872|PMID:13872094|PMID:13895148|PMID:1390250|PMID:13911808|PMID:14084634|PMID:14091853|PMID:14160125|PMID:14197371|PMID:14198723|PMID:14314237|PMID:14405428|PMID:14492555|PMID:14555318|PMID:14576320|PMID:14597|PMID:14613965|PMID:1463768|PMID:14686490|PMID:14734204|PMID:14808148|PMID:15000665|PMID:15008262|PMID:15108284|PMID:15114532|PMID:1515649|PMID:15181845|PMID:1520612|PMID:15257926|PMID:15278762|PMID:15315794|PMID:1536956|PMID:15395398|PMID:15470211|PMID:15481886|PMID:15543018|PMID:15653458|PMID:15658184|PMID:15658193|PMID:15727901|PMID:15761692|PMID:15768557|PMID:15921161|PMID:15973412|PMID:16001361|PMID:16044458|PMID:16114182|PMID:16175509|PMID:16199547|PMID:16282896|PMID:16291734|PMID:16311287|PMID:1634236|PMID:1634360|PMID:16370495|PMID:16470532|PMID:16540414|PMID:16732578|PMID:16750922|PMID:1680789|PMID:16821247|PMID:1686262|PMID:16987801|PMID:17007829|PMID:17008283|PMID:17145605|PMID:1717406|PMID:17278112|PMID:17287491|PMID:17331080|PMID:1734721|PMID:17365006|PMID:1740317|PMID:17486493|PMID:17486505|PMID:17576681|PMID:17606453|PMID:17654071|PMID:1769663|PMID:17774955|PMID:1787097|PMID:17932132|PMID:17949282|PMID:17994377|PMID:17994378|PMID:18024613|PMID:1802884|PMID:18048408|PMID:18056002|PMID:18076350|PMID:18096416|PMID:18173741|PMID:18192399|PMID:18294253|PMID:18339318|PMID:18498386|PMID:1850955|PMID:18568278|PMID:1856830|PMID:18603555|PMID:18654884|PMID:18654889|PMID:1873227|PMID:18793248|PMID:18818920|PMID:18954999|PMID:18976160|PMID:19000664|PMID:19061217|PMID:1911375|PMID:1917531|PMID:19205970|PMID:19254853|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:1951318|PMID:1954392|PMID:1960615|PMID:19657836|PMID:19657842|PMID:19734427|PMID:1974422|PMID:19758965|PMID:19841268|PMID:19843386|PMID:1986365|PMID:1986379|PMID:19958184|PMID:2001456|PMID:2004023|PMID:20110664|PMID:20113284|PMID:20132300|PMID:2014803|PMID:20181291|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20309827|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20437613|PMID:20628988|PMID:2064964|PMID:20704537|PMID:2079437|PMID:20838957|PMID:20854120|PMID:20861612|PMID:20942|PMID:20954261|PMID:20981092|PMID:21045822|PMID:2105568|PMID:21119755|PMID:21131035|PMID:21194265|PMID:21228398|PMID:21232998|PMID:21250885|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21417574|PMID:21423179|PMID:21509314|PMID:21523319|PMID:21529713|PMID:21599435|PMID:21732929|PMID:21797703|PMID:21931510|PMID:2197725|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22074124|PMID:22075726|PMID:22110956|PMID:22122796|PMID:22145566|PMID:22180324|PMID:22188014|PMID:22200002|PMID:22239493|PMID:22244832|PMID:22260787|PMID:22271886|PMID:22335963|PMID:22392582|PMID:2239966|PMID:22471768|PMID:22494447|PMID:22625666|PMID:22675570|PMID:22734587|PMID:22737496|PMID:2283301|PMID:22851993|PMID:2291577|PMID:22957039|PMID:2296310|PMID:22975760|PMID:2298457|PMID:2298920|PMID:22995479|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20241119	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:23383304|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23491071|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23637309|PMID:2375910|PMID:2384310|PMID:23859443|PMID:239863|PMID:239943|PMID:2399911|PMID:24052702|PMID:24055728|PMID:24099628|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:2467892|PMID:24744638|PMID:24754789|PMID:24814631|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25332589|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25657036|PMID:25666204|PMID:25677748|PMID:25707679|PMID:25741868|PMID:2577233|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599881|PMID:26041415|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26467025|PMID:26522187|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26790389|PMID:26897028|PMID:26948378|PMID:26956563|PMID:27032675|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27351925|PMID:27427187|PMID:2752127|PMID:2753736|PMID:2757008|PMID:27651169|PMID:27670359|PMID:27690257|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27828729|PMID:27829304|PMID:27884173|PMID:28125089|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28670940|PMID:28671035|PMID:2867271|PMID:2875755|PMID:28794124|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:29076137|PMID:29082517|PMID:2915972|PMID:29171316|PMID:2920213|PMID:29240028|PMID:29295702|PMID:29484903|PMID:29695942|PMID:29790589|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:30205726|PMID:30249157|PMID:3024968|PMID:30275481|PMID:3031297|PMID:30315176|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626242|PMID:30820323|PMID:30900795|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31240559|PMID:31304856|PMID:31395865|PMID:31411089|PMID:31553106|PMID:31589614|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32527859|PMID:32664780|PMID:32672086|PMID:3267215|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33287582|PMID:33335418|PMID:33489049|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:33829933|PMID:3384709|PMID:33851260|PMID:33867742|PMID:3391614|PMID:33971252|PMID:3403716|PMID:3422218|PMID:34272389|PMID:34334128|PMID:34362515|PMID:3462712|PMID:34749363|PMID:35143361|PMID:35336809|PMID:3557993|PMID:3557994|PMID:3557996|PMID:3557998|PMID:3583764|PMID:3588028|PMID:35898763|PMID:36073655|PMID:3623976|PMID:3683554|PMID:3690667|PMID:3752087|PMID:3756101|PMID:3768534|PMID:37845805|PMID:3821796|PMID:3828533|PMID:3942130|PMID:3955238|PMID:3957694|PMID:4078867|PMID:4101432|PMID:4232783|PMID:4264206|PMID:4351905|PMID:439565|PMID:4514958|PMID:457426|PMID:4685078|PMID:4749206|PMID:4808644|PMID:4808645|PMID:4942314|PMID:4991321|PMID:4999133|PMID:5031790|PMID:5050915|PMID:5056652|PMID:5059650|PMID:5079107|PMID:5577462|PMID:5658717|PMID:5672850|PMID:5684629|PMID:5750181|PMID:5782115|PMID:5789325|PMID:5791730|PMID:5856115|PMID:5863839|PMID:5881530|PMID:5919752
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20241119	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN ATHENS-GEORGIA | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:598514|PMID:6029950|PMID:6038175|PMID:604313|PMID:6050213|PMID:6054966|PMID:6061750|PMID:6067323|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6175783|PMID:6188062|PMID:6189507|PMID:6198908|PMID:6249934|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6310991|PMID:6320218|PMID:6322284|PMID:6457059|PMID:6469698|PMID:6526653|PMID:6578506|PMID:6583683|PMID:6583702|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6646217|PMID:6668188|PMID:6668191|PMID:6714226|PMID:6733281|PMID:6821648|PMID:6826539|PMID:6849326|PMID:6859031|PMID:6863429|PMID:6874374|PMID:6879181|PMID:6896219|PMID:6985481|PMID:6998928|PMID:7104238|PMID:7137165|PMID:7158624|PMID:7173395|PMID:7177196|PMID:7204093|PMID:7229029|PMID:7338475|PMID:7353889|PMID:7384810|PMID:7384813|PMID:7390864|PMID:7395858|PMID:7407240|PMID:747178|PMID:7505125|PMID:750553|PMID:7510147|PMID:7522523|PMID:7530406|PMID:7558879|PMID:7615400|PMID:7668219|PMID:7683931|PMID:7693620|PMID:7786794|PMID:7795641|PMID:7852087|PMID:7852088|PMID:7852089|PMID:7860732|PMID:7864023|PMID:7909640|PMID:7928379|PMID:7993409|PMID:8095930|PMID:8112743|PMID:8114|PMID:8144354|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226094|PMID:8270260|PMID:8330980|PMID:8330981|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8522332|PMID:8619407|PMID:8638609|PMID:8701949|PMID:8718703|PMID:8824225|PMID:8839873|PMID:88735|PMID:8874232|PMID:891976|PMID:8980256|PMID:9028819|PMID:9048934|PMID:909565|PMID:9101280|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9340427|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9450794|PMID:9494047|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9625056|PMID:9653159|PMID:9845707|PMID:9846016|PMID:9859934|PMID:9859935|PMID:9859938|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23297836|PMID:23321370|PMID:23348723|PMID:23350016|PMID:23383304|PMID:23388674|PMID:23425204|PMID:23431002|PMID:23457306|PMID:2346726|PMID:23491071|PMID:23510507|PMID:23525874|PMID:23590330|PMID:23590658|PMID:23591685|PMID:23637309|PMID:2375910|PMID:2384310|PMID:23859443|PMID:239863|PMID:239943|PMID:2399911|PMID:24052702|PMID:24055728|PMID:24099628|PMID:2412200|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24245819|PMID:24265529|PMID:2430648|PMID:24368026|PMID:24369358|PMID:24401016|PMID:2446680|PMID:24493127|PMID:2458145|PMID:24581976|PMID:24616059|PMID:24652967|PMID:2467892|PMID:24744638|PMID:24754789|PMID:24814631|PMID:24880717|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25203083|PMID:25332589|PMID:25370867|PMID:2539344|PMID:25405919|PMID:25408857|PMID:25412720|PMID:25480500|PMID:25488433|PMID:25525159|PMID:25572186|PMID:25617386|PMID:25657036|PMID:25666204|PMID:25677748|PMID:25707679|PMID:25741868|PMID:2579336|PMID:25818823|PMID:2582106|PMID:25825561|PMID:25849334|PMID:25856402|PMID:25976460|PMID:2599881|PMID:2599884|PMID:26041415|PMID:2606727|PMID:26076395|PMID:26076396|PMID:26079343|PMID:26084319|PMID:26097845|PMID:26275168|PMID:26287797|PMID:26290351|PMID:26291967|PMID:26366554|PMID:26372199|PMID:26372288|PMID:26418075|PMID:26436569|PMID:26467025|PMID:26522187|PMID:26544676|PMID:26554253|PMID:26554862|PMID:26594346|PMID:26635043|PMID:26661037|PMID:26715484|PMID:26771086|PMID:26790389|PMID:26897028|PMID:26948378|PMID:26956563|PMID:27032675|PMID:2703367|PMID:2703368|PMID:27117567|PMID:27117572|PMID:2713503|PMID:27199182|PMID:27207683|PMID:27254408|PMID:27258795|PMID:27263053|PMID:27264516|PMID:27351925|PMID:27427187|PMID:2752127|PMID:27535164|PMID:2753736|PMID:2757008|PMID:27651169|PMID:27670359|PMID:27690257|PMID:27756326|PMID:27765567|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27829304|PMID:27884173|PMID:28125089|PMID:28251416|PMID:28276871|PMID:28356267|PMID:28361590|PMID:28361595|PMID:28366028|PMID:28379995|PMID:28385923|PMID:28391758|PMID:28492532|PMID:28546763|PMID:28589738|PMID:28603845|PMID:28635337|PMID:28643346|PMID:28670940|PMID:28670945|PMID:28671035|PMID:2867271|PMID:2875755|PMID:28794124|PMID:28802248|PMID:2887538|PMID:2888754|PMID:2891298|PMID:2893541|PMID:2895770|PMID:2898142|PMID:2898460|PMID:2898955|PMID:2901867|PMID:29076137|PMID:29082517|PMID:2915972|PMID:29171316|PMID:2920213|PMID:29240028|PMID:29295702|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:29790589|PMID:30002798|PMID:30033078|PMID:30046479|PMID:30047296|PMID:3006832|PMID:30205726|PMID:30249157|PMID:3024968|PMID:30275481|PMID:3031297|PMID:30315176|PMID:30316205|PMID:30423154|PMID:3048433|PMID:30489691|PMID:30604644|PMID:30626236|PMID:30626242|PMID:30777047|PMID:30820323|PMID:30900795|PMID:31084366|PMID:31134759|PMID:3114175|PMID:31190580|PMID:31240559|PMID:31268351|PMID:31304856|PMID:31395865|PMID:31411089|PMID:31553106|PMID:31589614|PMID:3170235|PMID:31714438|PMID:31718331|PMID:31766235|PMID:31788855|PMID:31903828|PMID:31973650|PMID:32033288|PMID:32039214|PMID:32069775|PMID:32190157|PMID:32411010|PMID:32412692|PMID:32414341|PMID:32420772|PMID:32527859|PMID:32664780|PMID:32672086|PMID:3267215|PMID:32860008|PMID:32869674|PMID:32885601|PMID:32925409|PMID:32986258|PMID:33000750|PMID:33091040|PMID:33092414|PMID:33092544|PMID:33116287|PMID:33287582|PMID:33335418|PMID:33489049|PMID:33491330|PMID:3354556|PMID:33602051|PMID:33734896|PMID:33829933|PMID:3384709|PMID:33851260|PMID:33867742|PMID:3391614|PMID:33947296|PMID:33971252|PMID:33979976|PMID:3403716|PMID:34060430|PMID:34092029|PMID:3422218|PMID:34272389|PMID:34334128|PMID:34362515|PMID:34426522|PMID:3457470|PMID:3462712|PMID:3467311|PMID:34749363|PMID:35052472|PMID:35091138|PMID:35143361|PMID:35336809|PMID:3557993|PMID:3557994|PMID:3557996|PMID:3557998|PMID:3583764|PMID:3588028|PMID:35898763|PMID:36073655|PMID:36106931
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN ABRUZZO | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN BORAS | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN J (LOME) | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN RALEIGH | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: HEMOGLOBIN SHELBY | ClinVar Annotator: match by term: HEMOGLOBIN TENDE | ClinVar Annotator: match by term: HEMOGLOBIN TYNE | ClinVar Annotator: match by term: HEMOGLOBIN YUSA | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:3623976|PMID:36401470|PMID:36752381|PMID:3683554|PMID:3690667|PMID:3691763|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37457725|PMID:3752087|PMID:3756101|PMID:3768534|PMID:37845805|PMID:3821796|PMID:3828533|PMID:38708170|PMID:3942130|PMID:39515600|PMID:3955238|PMID:3957690|PMID:3957694|PMID:3971046|PMID:3997544|PMID:4078867|PMID:4101432|PMID:4232783|PMID:4264206|PMID:4351905|PMID:439565|PMID:4514958|PMID:457426|PMID:4683875|PMID:4685078|PMID:4749206|PMID:4808644|PMID:4808645|PMID:4942314|PMID:4991321|PMID:4999133|PMID:5031790|PMID:5050915|PMID:5056652|PMID:5059650|PMID:5079107|PMID:5420592|PMID:5577462|PMID:5658717|PMID:5672850|PMID:5684629|PMID:5750181|PMID:5782115|PMID:5789325|PMID:5791730|PMID:5856115|PMID:5863839|PMID:5881530|PMID:5919752|PMID:598514|PMID:6019668|PMID:6029950|PMID:6038175|PMID:604313|PMID:6050213|PMID:6054966|PMID:6061750|PMID:6067323|PMID:6086605|PMID:6162860|PMID:6166632|PMID:6175783|PMID:6188062|PMID:6189507|PMID:6198908|PMID:6249934|PMID:6268660|PMID:6272289|PMID:6275383|PMID:6280057|PMID:6285354|PMID:6292840|PMID:6310991|PMID:6320218|PMID:6322284|PMID:6434492|PMID:6457059|PMID:6469698|PMID:6526653|PMID:6578506|PMID:6583683|PMID:6584911|PMID:6585381|PMID:6585831|PMID:6646217|PMID:6668188|PMID:6668191|PMID:6714226|PMID:6733281|PMID:6745619|PMID:6821648|PMID:6826539|PMID:6849326|PMID:6859031|PMID:6863429|PMID:6874374|PMID:6879181|PMID:6896219|PMID:6985481|PMID:6998928|PMID:7104238|PMID:7137165|PMID:7158624|PMID:7173395|PMID:7177196|PMID:7204093|PMID:7229029|PMID:7338475|PMID:7353889|PMID:7384810|PMID:7384813|PMID:7390864|PMID:7395858|PMID:7407240|PMID:747178|PMID:7505125|PMID:750553|PMID:7510147|PMID:7522523|PMID:7530406|PMID:7558879|PMID:7615400|PMID:7668219|PMID:7683931|PMID:7693620|PMID:7786794|PMID:7795641|PMID:7852087|PMID:7852088|PMID:7852089|PMID:7860732|PMID:7864023|PMID:7909640|PMID:7928379|PMID:7993409|PMID:8095930|PMID:8112743|PMID:8114|PMID:8144354|PMID:8172199|PMID:81926|PMID:8199027|PMID:8199597|PMID:8201467|PMID:8225319|PMID:8226093|PMID:8226094|PMID:8270260|PMID:8294201|PMID:8330974|PMID:8330977|PMID:8330980|PMID:8330981|PMID:8408017|PMID:8435318|PMID:8454469|PMID:8462981|PMID:8477263|PMID:8518184|PMID:8522332|PMID:8619407|PMID:8638609|PMID:8701949|PMID:8704193|PMID:8718703|PMID:8824225|PMID:8839873|PMID:88735|PMID:8874232|PMID:891976|PMID:8980256|PMID:9028819|PMID:9048934|PMID:909565|PMID:9101280|PMID:9101288|PMID:9113933|PMID:9140717|PMID:9140720|PMID:9160698|PMID:9163586|PMID:9223924|PMID:9225979|PMID:9340427|PMID:9371533|PMID:9401495|PMID:9415845|PMID:9450794|PMID:9494047|PMID:9495372|PMID:9536098|PMID:9556665|PMID:9625056|PMID:9653159|PMID:9787184|PMID:9845707|PMID:9846016|PMID:9859934|PMID:9859935|PMID:9859938|PMID:9949622
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HBB-related condition | ClinVar Annotator: match by term: HEMOGLOBIN BEIRUT | ClinVar Annotator: match by term: HEMOGLOBIN HIKARI | ClinVar Annotator: match by term: HEMOGLOBIN K (WOOLWICH) | ClinVar Annotator: match by term: HEMOGLOBIN SAALE | ClinVar Annotator: match by term: Hemoglobinopathy	PMID:10770934|PMID:10975438|PMID:11300348|PMID:11830454|PMID:11843890|PMID:11880644|PMID:12124399|PMID:12127975|PMID:12324499|PMID:12827652|PMID:12829441|PMID:12962322|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15108284|PMID:15181845|PMID:15543018|PMID:15658184|PMID:16291734|PMID:17486493|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18157833|PMID:18294253|PMID:18414926|PMID:18473247|PMID:18818920|PMID:18832473|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19657842|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20113284|PMID:20132300|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20642336|PMID:20704537|PMID:20854120|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22122796|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22625666|PMID:22737496|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:2307460|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:23425204|PMID:23431002|PMID:23590658|PMID:23591685|PMID:23637309|PMID:23859443|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24401016|PMID:24493127|PMID:2467892|PMID:25000193|PMID:25016698|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25130136|PMID:25135424|PMID:25155404|PMID:25203083|PMID:25480500|PMID:25707679|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26041415|PMID:26084319|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:26522187|PMID:26635043|PMID:26715484|PMID:27032675|PMID:27117572|PMID:2713503|PMID:27207683|PMID:27254408|PMID:27263053|PMID:27690257|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28395541|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:29240028|PMID:29484903|PMID:29542687|PMID:29700171|PMID:29790589|PMID:2998970|PMID:30002798|PMID:30033078|PMID:30315176|PMID:3101357|PMID:31149860|PMID:31268351|PMID:31395865|PMID:31553106|PMID:31714438|PMID:31788855|PMID:32033288|PMID:32527859|PMID:3267215|PMID:33092544|PMID:33116287|PMID:33198537|PMID:33335418|PMID:33734896|PMID:3384709|PMID:33851260|PMID:34092029|PMID:34272389|PMID:34334128|PMID:34426522|PMID:3467311|PMID:34749363|PMID:35052472|PMID:3557996|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:3756101|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:3971046|PMID:40485898|PMID:4232783|PMID:4683875|PMID:4999133|PMID:500379|PMID:6129204|PMID:6188062|PMID:6249934|PMID:6268660|PMID:6309649|PMID:6320218|PMID:6434492|PMID:6480363|PMID:6583683|PMID:6585831|PMID:668922|PMID:6714226|PMID:6745619|PMID:6826539|PMID:6879181|PMID:701085|PMID:7158624|PMID:7384810|PMID:7558879|PMID:7961689|PMID:8294201|PMID:8408017|PMID:8435318|PMID:8701949|PMID:8891722|PMID:9101280|PMID:9113933|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2860	hemoglobinopathy	severity	ISO	RGD:736606	D	RGD:9068941	20200609	RGD			PMID:24930900|REF_RGD_ID:10449038
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:2861	congenital nonspherocytic hemolytic anemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN MANUKAU	
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736606	D	RGD:9068941	20260226	RGD		mRNA:decreased expression:peripheral blood mononuclear cell	PMID:39480635|REF_RGD_ID:632527148
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736606	D	RGD:9068941	20260507	RGD		protein:decreased expression:lung	PMID:20836851|REF_RGD_ID:645244059
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:3275	thymoma		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16020116|PMID:17576681|PMID:2123063|PMID:21250876|PMID:22563936|PMID:22975760|PMID:23348723|PMID:25741868|PMID:26467025|PMID:27251090|PMID:28492532|PMID:2987809|PMID:6583702|PMID:9342003|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:3459	breast carcinoma		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:480	movement disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:5378	hemoglobin D disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA)	PMID:25741868|PMID:26467025
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		protein:increased glycation:blood	PMID:36106347|REF_RGD_ID:645238745
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:552	pneumonia	severity	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with type 2 diabetes mellitus;protein:increased glycation:blood	PMID:38296292|REF_RGD_ID:645238741
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:583	hemolytic anemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN GENOVA | ClinVar Annotator: match by term: HEMOGLOBIN LOUISVILLE | ClinVar Annotator: match by term: HEMOGLOBIN LUFKIN | ClinVar Annotator: match by term: HEMOGLOBIN MANHATTAN | ClinVar Annotator: match by term: HEMOGLOBIN MIZUHO | ClinVar Annotator: match by term: HEMOGLOBIN OLMSTED | ClinVar Annotator: match by term: HEMOGLOBIN REDONDO | ClinVar Annotator: match by term: HEMOGLOBIN SABINE | ClinVar Annotator: match by term: HEMOGLOBIN VOLGA | ClinVar Annotator: match by term: Hemolytic anemia	PMID:10804732|PMID:1138885|PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15653458|PMID:15658184|PMID:1802884|PMID:18473247|PMID:18654884|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:2105568|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24022|PMID:24123366|PMID:24493127|PMID:24904938|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26467025|PMID:26635043|PMID:27117572|PMID:27254408|PMID:27670359|PMID:27686852|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:3240605|PMID:32527859|PMID:3267215|PMID:33116287|PMID:3384703|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:4685078|PMID:5492847|PMID:5780360|PMID:6054966|PMID:6129204|PMID:6268660|PMID:6583683|PMID:6668191|PMID:7384810|PMID:8294201|PMID:8330973|PMID:8537234|PMID:8579053|PMID:893142|PMID:952960
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:589	congenital hemolytic anemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN CHEVERLY | ClinVar Annotator: match by term: HEMOGLOBIN I (TOULOUSE) | ClinVar Annotator: match by term: HEMOGLOBIN SAINT ETIENNE | ClinVar Annotator: match by term: HEMOGLOBIN SANTA ANA | ClinVar Annotator: match by term: HEMOGLOBIN WASHTENAW	PMID:16790675|PMID:19429541|PMID:24200101|PMID:25741868|PMID:26467025|PMID:34528613|PMID:3583764|PMID:35898763|PMID:5791730|PMID:6815132|PMID:6877904|PMID:7407240|PMID:7928379|PMID:9798654
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:630	genetic disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15181845|PMID:15543018|PMID:15658184|PMID:16291734|PMID:17576681|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18473247|PMID:18818920|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:23591685|PMID:23637309|PMID:23859443|PMID:24123366|PMID:24200214|PMID:24493127|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26041415|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26467025|PMID:27117572|PMID:27254408|PMID:27263053|PMID:27690257|PMID:27828729|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28635337|PMID:28671035|PMID:2888754|PMID:2898955|PMID:29484903|PMID:29542687|PMID:29700171|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:31714438|PMID:31788855|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:34334128|PMID:34749363|PMID:35052472|PMID:36073655|PMID:37240547|PMID:38504512|PMID:40485898|PMID:4232783|PMID:4683875|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6583683|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7384810|PMID:8294201|PMID:8435318|PMID:8891722|PMID:9113933|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:674	cleft palate		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15181845|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18414926|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20181291|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:23637309|PMID:24123366|PMID:24200214|PMID:24493127|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25741868|PMID:2582106|PMID:25849334|PMID:26041415|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26467025|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28635337|PMID:28671035|PMID:2888754|PMID:29484903|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:33198537|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:40485898|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:6714226|PMID:6826539|PMID:7384810|PMID:8294201|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:8432	polycythemia		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Erythrocytosis | ClinVar Annotator: match by term: HEMOGLOBIN PUTTELANGE | ClinVar Annotator: match by term: HEMOGLOBIN SHERWOOD FOREST | ClinVar Annotator: match by term: HEMOGLOBIN TAK | ClinVar Annotator: match by term: Polycythemia	PMID:10722117|PMID:10846826|PMID:11167851|PMID:12621249|PMID:15768557|PMID:15921161|PMID:19429541|PMID:19460936|PMID:20353352|PMID:20353353|PMID:20395516|PMID:20838957|PMID:22145566|PMID:24115288|PMID:25741868|PMID:26467025|PMID:26544676|PMID:28492532|PMID:29790589|PMID:32925409|PMID:4101432|PMID:604313|PMID:7295777|PMID:7417488|PMID:9494047
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:8469	influenza	severity	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with type 2 diabetes mellitus;protein:increased glycation:blood	PMID:38296292|REF_RGD_ID:645238741
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:8485	mucormycosis	susceptibility	ISO	RGD:736606	D	RGD:9068941	20260507	RGD		associated with COVID-19; associated with diabetes mellitus; protein:increased glycation:blood	PMID:35918980|REF_RGD_ID:645244047
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:8997	polycythemia vera		ISO	RGD:736606	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:5773089
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000363	Hematuria		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000781	Cyanosis		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN DENVER | ClinVar Annotator: match by term: HEMOGLOBIN FREIBURG | ClinVar Annotator: match by term: HEMOGLOBIN KANSAS	PMID:19429541|PMID:8133661
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000790	Postoperative Complications		ISO	RGD:736606	D	RGD:9068941	20260509	RGD		protein:increased glycation:blood	PMID:37719533|REF_RGD_ID:645238738
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000792	Methemoglobinemia, Beta-Globin Type		ISO	RGD:736606	D	RGD:7240710	20180130	OMIM			
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000792	Methemoglobinemia, Beta-Globin Type		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN D (GRANADA) | ClinVar Annotator: match by term: HEMOGLOBIN M (MILWAUKEE 1) | ClinVar Annotator: match by term: HEMOGLOBIN M (MILWAUKEE 2) | ClinVar Annotator: match by term: HEMOGLOBIN SENDAGI | ClinVar Annotator: match by term: METHEMOGLOBINEMIA, BETA TYPE | ClinVar Annotator: match by term: Methemoglobinemia, beta-globin type	PMID:10846826|PMID:11186258|PMID:11830454|PMID:11857746|PMID:11880644|PMID:12124399|PMID:12403232|PMID:13369537|PMID:13464827|PMID:1353069|PMID:13665153|PMID:1376298|PMID:1398295|PMID:14084634|PMID:14576320|PMID:1463768|PMID:15008262|PMID:15181845|PMID:15278762|PMID:1550780|PMID:15543018|PMID:15658184|PMID:16020116|PMID:16199547|PMID:16291734|PMID:1634358|PMID:17576681|PMID:17932132|PMID:1802884|PMID:18294253|PMID:18414926|PMID:18432506|PMID:18473247|PMID:18603555|PMID:18818920|PMID:18976160|PMID:19000664|PMID:19061217|PMID:19429541|PMID:19460936|PMID:19465909|PMID:19486366|PMID:19631632|PMID:19734427|PMID:19758965|PMID:2004023|PMID:20132300|PMID:20181291|PMID:2018842|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20406103|PMID:20412082|PMID:20524821|PMID:20628988|PMID:20642336|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21119755|PMID:21131035|PMID:2123063|PMID:21250876|PMID:21302591|PMID:21329186|PMID:21389146|PMID:21423179|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22188014|PMID:22244832|PMID:22335963|PMID:22392582|PMID:22563936|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23346429|PMID:23348723|PMID:23383304|PMID:23591685|PMID:23637309|PMID:23859443|PMID:2393712|PMID:24055728|PMID:24099628|PMID:24123366|PMID:24200101|PMID:24200214|PMID:24493127|PMID:2467892|PMID:24857915|PMID:24986053|PMID:25000193|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25089872|PMID:25113778|PMID:25135424|PMID:25203083|PMID:25480500|PMID:25657036|PMID:25741868|PMID:2582106|PMID:25849334|PMID:2599884|PMID:26016899|PMID:26029792|PMID:26041415|PMID:2606476|PMID:26275168|PMID:26290351|PMID:26291967|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27251090|PMID:27254408|PMID:27263053|PMID:2737909|PMID:27690257|PMID:27821015|PMID:27823958|PMID:27828729|PMID:27884173|PMID:28143837|PMID:28356267|PMID:28361595|PMID:28366028|PMID:28391758|PMID:28492532|PMID:28635337|PMID:28671035|PMID:28802248|PMID:2888754|PMID:2898955|PMID:2917118|PMID:29464999|PMID:29484903|PMID:29542687|PMID:29695942|PMID:29700171|PMID:2987809|PMID:30002798|PMID:30033078|PMID:30315176|PMID:30720081|PMID:30837609|PMID:31096791|PMID:31267164|PMID:31268351|PMID:31553106|PMID:31714438|PMID:31788855|PMID:31980563|PMID:32126744|PMID:32527859|PMID:3267215|PMID:32747614|PMID:32986258|PMID:33116287|PMID:33198537|PMID:33251782|PMID:33735615|PMID:3377987|PMID:33851260|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34474730|PMID:34749363|PMID:34815527|PMID:35023007|PMID:35052472|PMID:35068381|PMID:35403941|PMID:36054783|PMID:36073655|PMID:36246595|PMID:36534489|PMID:36625083|PMID:37028505|PMID:37240547|PMID:37265972|PMID:37826942|PMID:38504512|PMID:38708170|PMID:3957690|PMID:39696913|PMID:40485898|PMID:4232783|PMID:4683875|PMID:5120550|PMID:5124025|PMID:5669922|PMID:6030043|PMID:6129204|PMID:6188062|PMID:6268660|PMID:6320218|PMID:6434492|PMID:6583683|PMID:6583702|PMID:6585831|PMID:6714226|PMID:6745619|PMID:6826539|PMID:701085|PMID:7068436|PMID:7295768|PMID:7295777|PMID:7353956|PMID:7384810|PMID:7417488|PMID:7437334|PMID:8037197|PMID:8257991|PMID:8294201|PMID:8373896|PMID:8435318|PMID:88735|PMID:8891722|PMID:9101288|PMID:9113933|PMID:933112|PMID:9342003|PMID:9494043|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1353069|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:17932132|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:2200760|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:2467892|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25113778|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:26436569|PMID:26467025|PMID:27117572|PMID:27207683|PMID:27254408|PMID:27823958|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:28802248|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31268351|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34092029|PMID:34334128|PMID:34426522|PMID:34749363|PMID:36073655|PMID:37028505|PMID:37240547|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6434492|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:14576320|PMID:1463768|PMID:16291734|PMID:17576681|PMID:18294253|PMID:19000664|PMID:19486366|PMID:2004023|PMID:20132300|PMID:20301599|PMID:22335963|PMID:22392582|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:25741868|PMID:26467025|PMID:27263053|PMID:27690257|PMID:27828729|PMID:28492532|PMID:28635337|PMID:2898955|PMID:29700171|PMID:30002798|PMID:31714438|PMID:31788855|PMID:6188062|PMID:6320218|PMID:6585831|PMID:6714226|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9001341	Chloracne		ISO	RGD:736606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9001820	Pulmonary Arterial Hypertension	disease_progression	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		protein:increased glycation:blood	PMID:22975101|REF_RGD_ID:645238730
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9002652	Alpha-Thalassemia 2		ISO	RGD:736606	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: HEMOGLOBIN RIO CLARO	PMID:10335985
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9002720	Splenomegaly		ISO	RGD:736606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9002720	Splenomegaly		ISO	RGD:736606	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:329C>G, amino acid H92Q	PMID:10870887|REF_RGD_ID:1600896
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:2783	D	RGD:9068941	20200609	RGD		mRNA:increased expression:basal ganglion, neuron, glial cell	PMID:21725744|REF_RGD_ID:10449050
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9003548	Infant, Newborn, Diseases		ISO	RGD:736606	D	RGD:9068941	20260509	RGD		associated with gestational diabetes;protein:increased glycation:blood	PMID:31401007|REF_RGD_ID:645244153
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9004108	Fused Kidney		ISO	RGD:736606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:14576320|PMID:1463768|PMID:16291734|PMID:17576681|PMID:18294253|PMID:19000664|PMID:19486366|PMID:2004023|PMID:20132300|PMID:20301599|PMID:22335963|PMID:22392582|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:25741868|PMID:26467025|PMID:27263053|PMID:27690257|PMID:27828729|PMID:28492532|PMID:28635337|PMID:2898955|PMID:29700171|PMID:30002798|PMID:31714438|PMID:31788855|PMID:6188062|PMID:6320218|PMID:6585831|PMID:6714226|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9004538	Hearing Loss		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:736606	D	RGD:9068941	20260507	RGD		associated with gestational diabetes;protein:increased glycation:blood	PMID:23873403|REF_RGD_ID:645244068
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9004898	Jaundice		ISO	RGD:736606	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:329C>G, amino acid H92Q	PMID:10870887|REF_RGD_ID:1600896
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:14576320|PMID:1463768|PMID:16291734|PMID:17576681|PMID:18294253|PMID:19000664|PMID:19486366|PMID:2004023|PMID:20132300|PMID:20301599|PMID:22335963|PMID:22392582|PMID:23162295|PMID:23234478|PMID:23321370|PMID:23348723|PMID:25741868|PMID:26467025|PMID:27263053|PMID:27690257|PMID:27828729|PMID:28492532|PMID:28635337|PMID:2898955|PMID:29700171|PMID:30002798|PMID:31714438|PMID:31788855|PMID:6188062|PMID:6320218|PMID:6585831|PMID:6714226|PMID:9536098
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736606	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12818227|PMID:15973412|PMID:19061217|PMID:19460936|PMID:20236848|PMID:2030155|PMID:20301551|PMID:20301599|PMID:22471768|PMID:22494447|PMID:23297836|PMID:23591685|PMID:23651435|PMID:25488433|PMID:25741868|PMID:26016899|PMID:26275168|PMID:26287797|PMID:26372199|PMID:26661037|PMID:27117572|PMID:27427187|PMID:27756326|PMID:28251416|PMID:28492532|PMID:28589738|PMID:2888754|PMID:30604644|PMID:33091040|PMID:36106931|PMID:6061750|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2783	D	RGD:9068941	20260507	RGD			PMID:33274862|REF_RGD_ID:645233584
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9006095	Ascites		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23975182|PMID:29255069
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736606	D	RGD:9068941	20260507	RGD		protein:increased glycation:blood	PMID:33073963|REF_RGD_ID:645244067
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9006672	Hemoglobin SC Disease		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemoglobin SC disease	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with lung cancer;protein:increased glycation:blood serum	PMID:34350479|REF_RGD_ID:645233586
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9007874	Liver Failure		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11830454|PMID:11880644|PMID:12124399|PMID:13369537|PMID:13464827|PMID:1376298|PMID:14084634|PMID:15543018|PMID:15658184|PMID:1802884|PMID:18473247|PMID:19061217|PMID:19460936|PMID:19465909|PMID:19758965|PMID:20301551|PMID:20301599|PMID:20305663|PMID:20628988|PMID:20861612|PMID:20954261|PMID:20981092|PMID:21045822|PMID:21131035|PMID:21302591|PMID:21329186|PMID:22010933|PMID:22028795|PMID:22244832|PMID:22625666|PMID:22957039|PMID:2296310|PMID:22975760|PMID:23065522|PMID:23144702|PMID:23591685|PMID:24123366|PMID:24493127|PMID:25023084|PMID:25023085|PMID:25087612|PMID:25203083|PMID:25741868|PMID:2582106|PMID:26041415|PMID:26275168|PMID:26372199|PMID:27117572|PMID:27254408|PMID:27884173|PMID:28356267|PMID:28361595|PMID:28492532|PMID:2888754|PMID:29542687|PMID:30002798|PMID:30033078|PMID:30315176|PMID:31553106|PMID:32527859|PMID:3267215|PMID:33116287|PMID:34334128|PMID:34749363|PMID:36073655|PMID:37240547|PMID:4232783|PMID:6129204|PMID:6268660|PMID:6583683|PMID:7384810|PMID:8294201
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:736606	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9008421	Epistaxis		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:15181845|PMID:18414926|PMID:20181291|PMID:20301599|PMID:22188014|PMID:23637309|PMID:24200214|PMID:25000193|PMID:25089872|PMID:25135424|PMID:25480500|PMID:25741868|PMID:25849334|PMID:26290351|PMID:26291967|PMID:26467025|PMID:28492532|PMID:28635337|PMID:28671035|PMID:29484903|PMID:33198537|PMID:40485898|PMID:6714226|PMID:6826539|PMID:8435318|PMID:9113933
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9008604	Radiation Pneumonitis	severity	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with lung cancer;protein:increased glycation:blood	PMID:31440097|REF_RGD_ID:645233585
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9009410	cystic fibrosis-related diabetes		ISO	RGD:736606	D	RGD:9068941	20260430	RGD		protein:increased glycation:blood	PMID:3346774|REF_RGD_ID:645233578
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9351	diabetes mellitus	disease_progression	ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with lung non-small cell carcinoma;protein:increased glycation:blood	PMID:34868942|REF_RGD_ID:645238734
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736606	D	RGD:9068941	20260430	RGD		associated with Hypoxia, associated with obstructive sleep apnea;protein:increased glycation:blood	PMID:36743921|REF_RGD_ID:645238735
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:2783	D	RGD:9068941	20260507	RGD			PMID:29342984|REF_RGD_ID:645233583
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:736606	D	RGD:9068941	20260509	RGD			PMID:19885177|REF_RGD_ID:645238737
12098737	LOC609402	hemoglobin subunit beta-like	gene	DOID:9834	hyperopia		ISO	RGD:736606	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:1353069|PMID:17932132|PMID:21302591|PMID:2200760|PMID:2467892|PMID:25113778|PMID:25741868|PMID:26436569|PMID:26467025|PMID:27207683|PMID:27823958|PMID:28492532|PMID:28802248|PMID:31268351|PMID:31553106|PMID:34092029|PMID:34426522|PMID:37028505|PMID:37265972|PMID:38708170|PMID:3957690|PMID:39696913|PMID:6434492
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098749	PXYLP1	2-phosphoxylose phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:7240710	20180130	OMIM			
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:0080863	primary ovarian insufficiency 6		ISO	RGD:1602165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FIGLA-related condition | ClinVar Annotator: match by term: Premature ovarian failure 6	PMID:25314148|PMID:25741868
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602165	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12098788	FIGLA	folliculogenesis specific bHLH transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098816	GTF3C4	general transcription factor IIIC subunit 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1349733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12098893	PANX2	pannexin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098893	PANX2	pannexin 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1349764	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12098893	PANX2	pannexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098893	PANX2	pannexin 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1321024	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:1115	sarcoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:1909	melanoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12098904	MAN2A2	mannosidase alpha class 2A member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12098934	BOP1	BOP1 ribosomal biogenesis factor	gene	DOID:1909	melanoma		ISO	RGD:1321585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12098934	BOP1	BOP1 ribosomal biogenesis factor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12098934	BOP1	BOP1 ribosomal biogenesis factor	gene	DOID:9000918	Disease Progression		ISO	RGD:1321585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12098934	BOP1	BOP1 ribosomal biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605417	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12098996	DCAF1	DDB1 and CUL4 associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18029912|PMID:23536361
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:736882	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:11310626|PMID:22782511|PMID:24700542|PMID:25741868|PMID:28492532|PMID:30772269|PMID:32627162
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050835	generalized dystonia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0050951	hereditary ataxia		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:28492532
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0051064	left ventricular failure		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25193472
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0111190	distal myopathy 4		ISO	RGD:736882	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy, distal, 4	PMID:25741868
12099025	ADCY5	adenylate cyclase 5	gene	DOID:0111428	essential tremor 1		ISO	RGD:736882	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:11310626|PMID:22782511|PMID:24700542|PMID:25741868|PMID:28492532|PMID:30772269|PMID:32627162
12099025	ADCY5	adenylate cyclase 5	gene	DOID:10534	stomach cancer		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:1059	intellectual disability		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:10763	hypertension		ISO	RGD:71014	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart left ventricle	PMID:12717102|REF_RGD_ID:13464134
12099025	ADCY5	adenylate cyclase 5	gene	DOID:10763	hypertension		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12717102
12099025	ADCY5	adenylate cyclase 5	gene	DOID:11476	osteoporosis		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18029912
12099025	ADCY5	adenylate cyclase 5	gene	DOID:11714	gestational diabetes		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:12859	choreatic disease		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:11310626|PMID:16199547|PMID:24700542|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:14330	Parkinson's disease		ISO	RGD:736883	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:1756	facial nerve disease		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Facial myokymia	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:1826	epilepsy		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12099025	ADCY5	adenylate cyclase 5	gene	DOID:1969	cerebral palsy		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:2030	anxiety disorder		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:2394	ovarian cancer		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:305	carcinoma		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12099025	ADCY5	adenylate cyclase 5	gene	DOID:3275	thymoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:480	movement disease		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:736882	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:543	dystonia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:11310626|PMID:16199547|PMID:24700542|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:630	genetic disease		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000053	Headache		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Headache	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000100	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA		ISO	RGD:736882	D	RGD:7240710	20220216	OMIM			
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000100	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA		ISO	RGD:736882	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	PMID:25741868|PMID:28492532|PMID:28971144|PMID:34631954
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000495	Tremor		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9000784	Fibrosis		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25193472
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9001722	Dysarthria		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9002362	Hyperkinesis		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9002563	Gait Ataxia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:11310626|PMID:22782511|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32627162|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9002949	Dyskinesia with Orofacial Involvement, Autosomal Recessive		ISO	RGD:736882	D	RGD:7240710	20220209	OMIM			
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9002949	Dyskinesia with Orofacial Involvement, Autosomal Recessive		ISO	RGD:736882	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal recessive	PMID:25741868|PMID:28492532|PMID:28971144
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9003132	Sialorrhea		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9003137	Photophobia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9003816	Macrocephaly		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9003996	Birth Weight		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23202124
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9004866	Ataxia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:11310626|PMID:16199547|PMID:22782511|PMID:24700542|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32627162|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:11310626|PMID:22782511|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32627162|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9006115	Dyskinesia with Orofacial Involvement, Autosomal Dominant		ISO	RGD:736882	D	RGD:7240710	20230308	OMIM			
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9006115	Dyskinesia with Orofacial Involvement, Autosomal Dominant		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dyskinesia with orofacial involvement, autosomal dominant | ClinVar Annotator: match by term: dyskinesia with orofacial involvement, autosomal dominant	PMID:11310626|PMID:16199547|PMID:22782511|PMID:24700542|PMID:25521004|PMID:25545163|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32627162|PMID:32713175|PMID:34631954
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9007114	Mobility Limitation		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:28492532
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9007722	Myoclonus		ISO	RGD:736882	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:24700542|PMID:25741868|PMID:26085604|PMID:26537056|PMID:28492532|PMID:28511835|PMID:30772269
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9007923	Back Pain		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9007924	Dyskinesia with Orofacial Involvement		ISO	RGD:736882	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADCY5-related disorder | ClinVar Annotator: match by term: Dyskinesia with orofacial involvement | ClinVar Annotator: match by term: Dyskinesia, familial, with facial myokymia	PMID:22782511|PMID:24700542|PMID:25741868|PMID:26085604|PMID:26537056|PMID:28492532|PMID:28511835|PMID:30772269
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9008675	Dyskinesias		ISO	RGD:736882	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia | ClinVar Annotator: match by term: Involuntary movements	PMID:11310626|PMID:24700542|PMID:25741868|PMID:25790160|PMID:26085604|PMID:26537056|PMID:26686870|PMID:27061943|PMID:28442302|PMID:28492532|PMID:28511835|PMID:28971144|PMID:30772269|PMID:30975617|PMID:32713175
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:71014	D	RGD:9068941	20200609	RGD			PMID:12607610|REF_RGD_ID:13464136
12099025	ADCY5	adenylate cyclase 5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736882	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20081858|PMID:23202124
12099025	ADCY5	adenylate cyclase 5	gene	DOID:963	episodic ataxia		ISO	RGD:736882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:28492532
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:1115	sarcoma		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1605351	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:70332	D	RGD:9068941	20200609	RGD			PMID:16215633|REF_RGD_ID:10395375
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:70332	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney cortex, kidney medulla (rat)	PMID:32416216|REF_RGD_ID:401793731
12099049	HIF3A	hypoxia inducible factor 3 subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099079	BPIFB4	BPI fold containing family B member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099079	BPIFB4	BPI fold containing family B member 4	gene	DOID:1115	sarcoma		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099079	BPIFB4	BPI fold containing family B member 4	gene	DOID:4362	cervical cancer		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099079	BPIFB4	BPI fold containing family B member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099079	BPIFB4	BPI fold containing family B member 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1606482	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9007161	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type		ISO	RGD:1606482	D	RGD:7240710	20180130	OMIM			
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9007161	Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type		ISO	RGD:1606482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RSPRY1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	PMID:25741868|PMID:28492532
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12099100	RSPRY1	ring finger and SPRY domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099137	ANXA6	annexin A6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099137	ANXA6	annexin A6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099137	ANXA6	annexin A6	gene	DOID:10534	stomach cancer		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099137	ANXA6	annexin A6	gene	DOID:1115	sarcoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099137	ANXA6	annexin A6	gene	DOID:1909	melanoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099137	ANXA6	annexin A6	gene	DOID:3070	high grade glioma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12099137	ANXA6	annexin A6	gene	DOID:3275	thymoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099137	ANXA6	annexin A6	gene	DOID:4362	cervical cancer		ISO	RGD:733718	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099137	ANXA6	annexin A6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733718	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12099137	ANXA6	annexin A6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099137	ANXA6	annexin A6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099137	ANXA6	annexin A6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733718	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12099137	ANXA6	annexin A6	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:733718	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
12099137	ANXA6	annexin A6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099137	ANXA6	annexin A6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099137	ANXA6	annexin A6	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12099137	ANXA6	annexin A6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12099137	ANXA6	annexin A6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099137	ANXA6	annexin A6	gene	DOID:9256	colorectal cancer		ISO	RGD:733718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605649	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:1324	lung cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099170	MIER1	MIER1 transcriptional regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605649	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:0111066	congenital bile acid synthesis defect 5		ISO	RGD:736620	D	RGD:7240710	20180130	OMIM			
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:0111066	congenital bile acid synthesis defect 5		ISO	RGD:736620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABCD3-related condition | ClinVar Annotator: match by term: Congenital bile acid synthesis defect 5	PMID:25741868|PMID:28492532
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:10534	stomach cancer		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:1324	lung cancer		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:2394	ovarian cancer		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:3275	thymoma		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:4362	cervical cancer		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:905	Zellweger syndrome		ISO	RGD:736620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1301993
12099226	ABCD3	ATP binding cassette subfamily D member 3	gene	DOID:905	Zellweger syndrome	susceptibility	ISO	RGD:736620	D	RGD:9068941	20200609	RGD			PMID:1301993|REF_RGD_ID:1598658
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:0040084	Streptococcus pneumonia	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:22492852|REF_RGD_ID:35316076
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:11476	osteoporosis		ISO	RGD:1318854	D	RGD:9068941	20220825	MouseDO		OMIM:166710	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:13272	Klebsiella pneumonia		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		mRNA:increased expression:lung (mouse)	PMID:20864681|REF_RGD_ID:36049798
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:22729155|REF_RGD_ID:35316077
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:2841	asthma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma-related traits, susceptibility to, 5 | ClinVar Annotator: match by term: IRAK3-related condition	PMID:25741868|PMID:28492532
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1318853	D	RGD:7240710	20190502	OMIM			
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA:increased expression:lung (human)	PMID:21278795|REF_RGD_ID:36049796
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:399	tuberculosis		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:sputum (human)	PMID:19535630|REF_RGD_ID:36049800
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318853	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:5052	melioidosis		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:19114913|REF_RGD_ID:36049801
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD			PMID:20439918|PMID:28120642|REF_RGD_ID:34888234|REF_RGD_ID:36049799
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9000109	Haemophilus Infections	severity	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:25585690|REF_RGD_ID:11527046
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9000684	Porcine Reproductive and Respiratory Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		mRNA:increased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9002786	Surgical Wound Infection		ISO	RGD:1318853	D	RGD:9068941	20200709	RGD		associated with colorectal cancer; mRNA:increased expression: plasma, leukocyte (human)	PMID:28214365|REF_RGD_ID:34888232
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9002827	Porcine Postweaning Multisystemic Wasting Syndrome		ISO	RGD:14200541	D	RGD:9068941	20200723	RGD		associated with Porcine Reproductive and Respiratory Syndrome; mRNA:decreased expression:peripheral blood mononuclear cell (pig)	PMID:26022073|REF_RGD_ID:36049793
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9002953	Escherichia Coli Infections	treatment	ISO	RGD:14200541	D	RGD:9068941	20200723	RGD			PMID:27832756|REF_RGD_ID:34888235
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD			PMID:21278795|REF_RGD_ID:36049796
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1318853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25780291
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:lung (mouse)	PMID:21577093|REF_RGD_ID:36049795
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9005930	Endotoxemia		ISO	RGD:1318853	D	RGD:9068941	20200723	RGD		mRNA, protein:increased expression:blood (human)	PMID:17982103|REF_RGD_ID:36049802
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:1318854	D	RGD:9068941	20200709	RGD		associated with ulcerative colitis;mRNA, protein:decreased expression:colon (mouse)	PMID:28713897|REF_RGD_ID:34888231
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9007417	Pseudomonas Infections	severity	ISO	RGD:1318854	D	RGD:9068941	20200723	RGD		associated with Sepsis	PMID:16917541|REF_RGD_ID:36049803
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9008885	Staphylococcal Infections	treatment	ISO	RGD:1318854	D	RGD:9068941	20200709	RGD			PMID:28954388|REF_RGD_ID:34888230
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099256	IRAK3	interleukin 1 receptor associated kinase 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318854	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:1115	sarcoma		ISO	RGD:1313969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:1324	lung cancer		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:1909	melanoma		ISO	RGD:1313969	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:3275	thymoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:4362	cervical cancer		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1313969	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099272	ZDHHC21	zinc finger DHHC-type palmitoyltransferase 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1320467	D	RGD:9068941	20220825	MouseDO		OMIM:605027	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320466	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1320466	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1320466	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099286	MTSS1	MTSS I-BAR domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320466	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099323	ZNF572	zinc finger protein 572	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099323	ZNF572	zinc finger protein 572	gene	DOID:1324	lung cancer		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099323	ZNF572	zinc finger protein 572	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12099323	ZNF572	zinc finger protein 572	gene	DOID:4362	cervical cancer		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099323	ZNF572	zinc finger protein 572	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099323	ZNF572	zinc finger protein 572	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival fibromatosis	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	PMID:23910462|PMID:28492532|PMID:29068549|PMID:9068549
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:7240710	20180130	OMIM			
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:0110094	short-rib thoracic dysplasia 8 with or without polydactyly		ISO	RGD:1605671	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: DYNC2I1-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 8 with or without polydactyly | ClinVar Annotator: match by term: short-rib thoracic dysplasia 8 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:23910462|PMID:24033266|PMID:25492405|PMID:25640679|PMID:25741868|PMID:28422394|PMID:28492532|PMID:29068549|PMID:30320547|PMID:9068549|PMID:9536098
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:1115	sarcoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:11830	myopia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:3275	thymoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605671	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:535	sleep disorder		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:630	genetic disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:6543	acne		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:799	varicose veins		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seborrheic dermatitis	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9000053	Headache		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9000363	Hematuria		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:25741868
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9004992	Apnea		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9006617	Fatigue		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9006743	Spasm		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9007152	Talipes		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099336	DYNC2I1	dynein 2 intermediate chain 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1605671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:0060903	thrombosis		ISO	RGD:731461	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25339356
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:10763	hypertension		ISO	RGD:3049	D	RGD:9068941	20200609	RGD		associated with Sleep Apnea Syndromes	PMID:21040717|REF_RGD_ID:5129169
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:3049	D	RGD:9068941	20200609	RGD			PMID:17532087|REF_RGD_ID:9685452
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:12930	dilated cardiomyopathy	treatment	ISO	RGD:3049	D	RGD:9068941	20200609	RGD			PMID:22120037|REF_RGD_ID:8549486
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:1686	glaucoma	treatment	ISO	RGD:3049	D	RGD:9068941	20200609	RGD			PMID:23702784|REF_RGD_ID:9685447
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:6000	congestive heart failure		ISO	RGD:3049	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart	PMID:21963897|REF_RGD_ID:8549482
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:3049	D	RGD:9068941	20230824	RGD			PMID:24614509|REF_RGD_ID:401793742
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3049	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:3049	D	RGD:9068941	20230817	RGD		associated with maternal adenine induced chronic kidney disease	PMID:32604820|REF_RGD_ID:401793718
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:19793108|REF_RGD_ID:2316776
12099391	MAS1	MAS1 proto-oncogene, G protein-coupled receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3049	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal cortex (rat)	PMID:18679036|REF_RGD_ID:2313799
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354338	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:1909	melanoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099396	TPRA1	transmembrane protein adipocyte associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316733	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1316733	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26443449
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099413	PPFIBP2	PPFIA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099469	CRP	C-reactive protein	gene	DOID:0014667	disease of metabolism		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19131468
12099469	CRP	C-reactive protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3285537
12099469	CRP	C-reactive protein	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:736633	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
12099469	CRP	C-reactive protein	gene	DOID:0050452	mevalonic aciduria	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:7780142|REF_RGD_ID:9585642
12099469	CRP	C-reactive protein	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22483567|REF_RGD_ID:6482301
12099469	CRP	C-reactive protein	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21493247|REF_RGD_ID:5131290
12099469	CRP	C-reactive protein	gene	DOID:0050855	renal fibrosis		ISO	RGD:10398	D	RGD:9068941	20200609	RGD		associated with ureteral obstruction	PMID:21383672|REF_RGD_ID:6907431
12099469	CRP	C-reactive protein	gene	DOID:0050855	renal fibrosis	onset	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with ureteral obstruction	PMID:21383672|REF_RGD_ID:6907431
12099469	CRP	C-reactive protein	gene	DOID:0050864	non-arteritic anterior ischemic optic neuropathy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:15206651|REF_RGD_ID:9491785
12099469	CRP	C-reactive protein	gene	DOID:0060001	withdrawal disorder		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12858318
12099469	CRP	C-reactive protein	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:18811807|REF_RGD_ID:9491838
12099469	CRP	C-reactive protein	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with  Idiopathic dilation cardiomyopathy;protein:increased expression:plasma:	PMID:19645035|REF_RGD_ID:9491839
12099469	CRP	C-reactive protein	gene	DOID:0060322	mastoiditis	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22578647|REF_RGD_ID:9491592
12099469	CRP	C-reactive protein	gene	DOID:0060903	thrombosis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16931792
12099469	CRP	C-reactive protein	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21284020|REF_RGD_ID:6907432
12099469	CRP	C-reactive protein	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21806828|REF_RGD_ID:9491781
12099469	CRP	C-reactive protein	gene	DOID:0080162	lupus nephritis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:15692982|PMID:18852001|REF_RGD_ID:6907400|REF_RGD_ID:6909145
12099469	CRP	C-reactive protein	gene	DOID:0080162	lupus nephritis		ISO	RGD:736633	D	RGD:9068941	20241114	RGD		DNA:SNP	PMID:17596285|REF_RGD_ID:5508454
12099469	CRP	C-reactive protein	gene	DOID:0080162	lupus nephritis	no_association	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20039408|REF_RGD_ID:6909146
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19		ISO	RGD:736633	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:32534021
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200618	RGD			PMID:32198776|REF_RGD_ID:30296673
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200625	RGD		associated with cardiovascular system disease;protein:increased expression:blood (human)	PMID:32456948|REF_RGD_ID:30309957
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200625	RGD		associated with hyperglycemia;protein:increased expression:serum (human)	PMID:32406594|REF_RGD_ID:32698682
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200625	RGD		protein:increased expression:blood (human)	PMID:32181911|REF_RGD_ID:30310230
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200625	RGD		protein:increased expression:plasma (human)	PMID:32417135|REF_RGD_ID:30310235
12099469	CRP	C-reactive protein	gene	DOID:0080600	COVID-19	severity	ISO	RGD:736633	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32125452|PMID:32227274|PMID:32365221|PMID:32427582|PMID:32434211|REF_RGD_ID:27095965|REF_RGD_ID:27226695|REF_RGD_ID:30309200|REF_RGD_ID:30310229|REF_RGD_ID:30310238
12099469	CRP	C-reactive protein	gene	DOID:1003	pelvic inflammatory disease		ISO	RGD:736633	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:21679133|REF_RGD_ID:38508897
12099469	CRP	C-reactive protein	gene	DOID:104	bacterial infectious disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:23937512|REF_RGD_ID:9495911
12099469	CRP	C-reactive protein	gene	DOID:1063	interstitial nephritis		ISO	RGD:10398	D	RGD:9068941	20200609	RGD		associated with ureteral obstruction	PMID:21383672|REF_RGD_ID:6907431
12099469	CRP	C-reactive protein	gene	DOID:1063	interstitial nephritis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17014549
12099469	CRP	C-reactive protein	gene	DOID:1063	interstitial nephritis	onset	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with ureteral obstruction	PMID:21383672|REF_RGD_ID:6907431
12099469	CRP	C-reactive protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10398	D	RGD:9068941	20200609	RGD			PMID:22202667|REF_RGD_ID:6904208
12099469	CRP	C-reactive protein	gene	DOID:1073	renal hypertension		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22188107|REF_RGD_ID:6907405
12099469	CRP	C-reactive protein	gene	DOID:1074	kidney failure	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell; protein:increased expression:serum	PMID:20710104|REF_RGD_ID:6907441
12099469	CRP	C-reactive protein	gene	DOID:10754	otitis media	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:7724300|REF_RGD_ID:9491381
12099469	CRP	C-reactive protein	gene	DOID:10763	hypertension		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19905982|REF_RGD_ID:5131461
12099469	CRP	C-reactive protein	gene	DOID:10763	hypertension		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14620923|PMID:16680063|PMID:19770776|PMID:20667508
12099469	CRP	C-reactive protein	gene	DOID:10763	hypertension		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:19056836|REF_RGD_ID:9586008
12099469	CRP	C-reactive protein	gene	DOID:10763	hypertension		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:6720266|REF_RGD_ID:9491754
12099469	CRP	C-reactive protein	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17400294|REF_RGD_ID:9491775
12099469	CRP	C-reactive protein	gene	DOID:10873	Kuhnt-Junius degeneration	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2808635,rs876538(human)	PMID:19692124|REF_RGD_ID:9491756
12099469	CRP	C-reactive protein	gene	DOID:114	heart disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17388968
12099469	CRP	C-reactive protein	gene	DOID:114	heart disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:11857055|REF_RGD_ID:1580259
12099469	CRP	C-reactive protein	gene	DOID:11400	pyelonephritis		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:21797109|REF_RGD_ID:6482315
12099469	CRP	C-reactive protein	gene	DOID:11561	hypertensive retinopathy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:21091359|REF_RGD_ID:9491786
12099469	CRP	C-reactive protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24308182|REF_RGD_ID:8695929
12099469	CRP	C-reactive protein	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19730160|REF_RGD_ID:5131463
12099469	CRP	C-reactive protein	gene	DOID:12365	malaria		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8730300
12099469	CRP	C-reactive protein	gene	DOID:12466	secondary hyperparathyroidism		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21350317
12099469	CRP	C-reactive protein	gene	DOID:12683	vestibular neuronitis	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:14636287|REF_RGD_ID:9491594
12099469	CRP	C-reactive protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12876635|PMID:16332659|PMID:29114965
12099469	CRP	C-reactive protein	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20412290|REF_RGD_ID:9491755
12099469	CRP	C-reactive protein	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:16013223|REF_RGD_ID:9491835
12099469	CRP	C-reactive protein	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Arthritis, Rheumatoid;protein:increased expression:serum:	PMID:2353152|REF_RGD_ID:9491774
12099469	CRP	C-reactive protein	gene	DOID:13241	Behcet's disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma,erythrocyte:	PMID:12180795|REF_RGD_ID:9491757
12099469	CRP	C-reactive protein	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21426633|REF_RGD_ID:5131292
12099469	CRP	C-reactive protein	gene	DOID:13375	temporal arteritis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:15206651|REF_RGD_ID:9491785
12099469	CRP	C-reactive protein	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		DNA:SNP: :1444 C-->T(human)	PMID:18710885|REF_RGD_ID:9495921
12099469	CRP	C-reactive protein	gene	DOID:13406	pulmonary sarcoidosis	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21086905|REF_RGD_ID:5131289
12099469	CRP	C-reactive protein	gene	DOID:13544	low tension glaucoma		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:16148587|REF_RGD_ID:9491770
12099469	CRP	C-reactive protein	gene	DOID:13544	low tension glaucoma	no_association	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22966842|REF_RGD_ID:9491771
12099469	CRP	C-reactive protein	gene	DOID:13564	aspergillosis	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20879853|REF_RGD_ID:9495929
12099469	CRP	C-reactive protein	gene	DOID:13801	pharyngoconjunctival fever		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17876605|REF_RGD_ID:9491593
12099469	CRP	C-reactive protein	gene	DOID:13949	interstitial cystitis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21284020|REF_RGD_ID:6907432
12099469	CRP	C-reactive protein	gene	DOID:14018	alcoholic liver cirrhosis	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22441510|REF_RGD_ID:6482305
12099469	CRP	C-reactive protein	gene	DOID:14330	Parkinson's disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22426659|REF_RGD_ID:6482307
12099469	CRP	C-reactive protein	gene	DOID:1474	aggressive periodontitis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:16013223|REF_RGD_ID:9491835
12099469	CRP	C-reactive protein	gene	DOID:1555	urticaria		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22348297|REF_RGD_ID:6482310
12099469	CRP	C-reactive protein	gene	DOID:1596	depressive disorder		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with kidney failure, chronic; protein:increased expression:plasma	PMID:22972567|REF_RGD_ID:6904211
12099469	CRP	C-reactive protein	gene	DOID:1612	breast cancer		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:nipple aspirate fluid	PMID:21139810|REF_RGD_ID:9491787
12099469	CRP	C-reactive protein	gene	DOID:1727	retinal vein occlusion		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:6720266|REF_RGD_ID:9491754
12099469	CRP	C-reactive protein	gene	DOID:1824	status epilepticus		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:23398413|REF_RGD_ID:9586015
12099469	CRP	C-reactive protein	gene	DOID:1936	atherosclerosis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16931792
12099469	CRP	C-reactive protein	gene	DOID:1936	atherosclerosis	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18535598|REF_RGD_ID:9491769
12099469	CRP	C-reactive protein	gene	DOID:2030	anxiety disorder		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20194079
12099469	CRP	C-reactive protein	gene	DOID:2030	anxiety disorder		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Coronary Disease;	PMID:18603621|REF_RGD_ID:9491832
12099469	CRP	C-reactive protein	gene	DOID:219	colon cancer		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:23008118|REF_RGD_ID:6903278
12099469	CRP	C-reactive protein	gene	DOID:2559	opiate dependence		ISO	RGD:736633	D	RGD:9068941	20241114	RGD		protein:increased expression:serum	PMID:23850638|REF_RGD_ID:408395144
12099469	CRP	C-reactive protein	gene	DOID:2841	asthma		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21140796|REF_RGD_ID:5131288
12099469	CRP	C-reactive protein	gene	DOID:2942	bronchiolitis	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21284715|REF_RGD_ID:5131282
12099469	CRP	C-reactive protein	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with HIV Infections	PMID:21197091|REF_RGD_ID:5131287
12099469	CRP	C-reactive protein	gene	DOID:2957	pulmonary tuberculosis	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21219690|REF_RGD_ID:5131284
12099469	CRP	C-reactive protein	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17014014|REF_RGD_ID:6907402
12099469	CRP	C-reactive protein	gene	DOID:3021	acute kidney failure		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22551254|REF_RGD_ID:6903282
12099469	CRP	C-reactive protein	gene	DOID:3021	acute kidney failure		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction;	PMID:22694718|REF_RGD_ID:6906888
12099469	CRP	C-reactive protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29329563
12099469	CRP	C-reactive protein	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21506665|REF_RGD_ID:5131278
12099469	CRP	C-reactive protein	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21468168|REF_RGD_ID:5131279
12099469	CRP	C-reactive protein	gene	DOID:3393	coronary artery disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24868163
12099469	CRP	C-reactive protein	gene	DOID:3393	coronary artery disease		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:19615354|REF_RGD_ID:2313344
12099469	CRP	C-reactive protein	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:14648971|REF_RGD_ID:9585643
12099469	CRP	C-reactive protein	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:15545914|REF_RGD_ID:9585995
12099469	CRP	C-reactive protein	gene	DOID:403	mouth disease		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21625744|REF_RGD_ID:6482317
12099469	CRP	C-reactive protein	gene	DOID:4448	macular degeneration		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:16225921|REF_RGD_ID:9491760
12099469	CRP	C-reactive protein	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20346514|REF_RGD_ID:9491758
12099469	CRP	C-reactive protein	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22958305|REF_RGD_ID:6904212
12099469	CRP	C-reactive protein	gene	DOID:5082	liver cirrhosis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;protein:decreased expression:serum	PMID:21806828|REF_RGD_ID:9491781
12099469	CRP	C-reactive protein	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22448211|REF_RGD_ID:6482303
12099469	CRP	C-reactive protein	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21439658|REF_RGD_ID:5131291
12099469	CRP	C-reactive protein	gene	DOID:552	pneumonia	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21258955|REF_RGD_ID:5131283
12099469	CRP	C-reactive protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099469	CRP	C-reactive protein	gene	DOID:5844	myocardial infarction		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21046814|REF_RGD_ID:5131456
12099469	CRP	C-reactive protein	gene	DOID:5844	myocardial infarction		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22446866|REF_RGD_ID:6482304
12099469	CRP	C-reactive protein	gene	DOID:5844	myocardial infarction		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Angina, Unstable;	PMID:9761079|REF_RGD_ID:9491780
12099469	CRP	C-reactive protein	gene	DOID:6000	congestive heart failure		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16360360
12099469	CRP	C-reactive protein	gene	DOID:6039	uveal melanoma	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:23057648|REF_RGD_ID:9491834
12099469	CRP	C-reactive protein	gene	DOID:6088	acute stress disorder		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:19628221|REF_RGD_ID:9585647
12099469	CRP	C-reactive protein	gene	DOID:614	lymphopenia		ISO	RGD:736633	D	RGD:9068941	20241114	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP	PMID:17596285|REF_RGD_ID:5508454
12099469	CRP	C-reactive protein	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive	PMID:22333502|REF_RGD_ID:6482312
12099469	CRP	C-reactive protein	gene	DOID:6713	cerebrovascular disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
12099469	CRP	C-reactive protein	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22885951|REF_RGD_ID:6906884
12099469	CRP	C-reactive protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144
12099469	CRP	C-reactive protein	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:6605119|REF_RGD_ID:9491788
12099469	CRP	C-reactive protein	gene	DOID:7147	ankylosing spondylitis	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22422197|REF_RGD_ID:6482308
12099469	CRP	C-reactive protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:22173958|REF_RGD_ID:6904209
12099469	CRP	C-reactive protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1568518
12099469	CRP	C-reactive protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22173958|REF_RGD_ID:6904209
12099469	CRP	C-reactive protein	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:30004237|REF_RGD_ID:13782270
12099469	CRP	C-reactive protein	gene	DOID:783	end stage renal disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19539174
12099469	CRP	C-reactive protein	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22865783|REF_RGD_ID:6906886
12099469	CRP	C-reactive protein	gene	DOID:820	myocarditis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20361910
12099469	CRP	C-reactive protein	gene	DOID:824	periodontitis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20011938
12099469	CRP	C-reactive protein	gene	DOID:848	arthritis		ISO	RGD:736633	D	RGD:9068941	20241114	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP	PMID:17596285|REF_RGD_ID:5508454
12099469	CRP	C-reactive protein	gene	DOID:853	polymyalgia rheumatica	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:2859021|REF_RGD_ID:9495925
12099469	CRP	C-reactive protein	gene	DOID:8778	Crohn's disease		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11339241
12099469	CRP	C-reactive protein	gene	DOID:8778	Crohn's disease	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22421709|REF_RGD_ID:6482309
12099469	CRP	C-reactive protein	gene	DOID:8805	intermediate coronary syndrome	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:9761079|REF_RGD_ID:9491780
12099469	CRP	C-reactive protein	gene	DOID:8893	psoriasis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12559600
12099469	CRP	C-reactive protein	gene	DOID:8893	psoriasis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22503884|REF_RGD_ID:6482313
12099469	CRP	C-reactive protein	gene	DOID:8893	psoriasis	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22754198|REF_RGD_ID:9495927
12099469	CRP	C-reactive protein	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20012460
12099469	CRP	C-reactive protein	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20012460|REF_RGD_ID:8547537
12099469	CRP	C-reactive protein	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:22404382|REF_RGD_ID:6903321
12099469	CRP	C-reactive protein	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:11739301|REF_RGD_ID:9495908
12099469	CRP	C-reactive protein	gene	DOID:9000081	Lymphatic Metastasis	susceptibility	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasm; DNA:polymorphism: :1846C>T(rs1205)(human)	PMID:24633920|REF_RGD_ID:9580226
12099469	CRP	C-reactive protein	gene	DOID:9000998	Brain Injuries	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:24456846|REF_RGD_ID:9585646
12099469	CRP	C-reactive protein	gene	DOID:9001488	Human Influenza		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21509252|REF_RGD_ID:5131277
12099469	CRP	C-reactive protein	gene	DOID:9001542	Albuminuria		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:20016210|REF_RGD_ID:6909147
12099469	CRP	C-reactive protein	gene	DOID:9001542	Albuminuria	severity	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell; protein:increased expression:serum	PMID:20710104|REF_RGD_ID:6907441
12099469	CRP	C-reactive protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21806828|REF_RGD_ID:9491781
12099469	CRP	C-reactive protein	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15966572|PMID:23305094
12099469	CRP	C-reactive protein	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:18973750|REF_RGD_ID:6907401
12099469	CRP	C-reactive protein	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:21794939|REF_RGD_ID:9491837
12099469	CRP	C-reactive protein	gene	DOID:9001934	Neonatal Sepsis	treatment	ISO	RGD:2411	D	RGD:9068941	20241205	RGD			PMID:15645239|REF_RGD_ID:458925287
12099469	CRP	C-reactive protein	gene	DOID:9002106	Pneumococcal Pneumonia	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21281676|REF_RGD_ID:5131293
12099469	CRP	C-reactive protein	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:urine	PMID:22590912|REF_RGD_ID:6906967
12099469	CRP	C-reactive protein	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:22885250|REF_RGD_ID:6906965
12099469	CRP	C-reactive protein	gene	DOID:9002274	Renal Colic		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Urolithiasis;	PMID:20206981|REF_RGD_ID:6909142
12099469	CRP	C-reactive protein	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330884
12099469	CRP	C-reactive protein	gene	DOID:9002669	Hypoxia		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Influenza	PMID:21199168|REF_RGD_ID:5131285
12099469	CRP	C-reactive protein	gene	DOID:9002847	Serositis		ISO	RGD:736633	D	RGD:9068941	20241114	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP	PMID:17596285|REF_RGD_ID:5508454
12099469	CRP	C-reactive protein	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20220110|REF_RGD_ID:9585994
12099469	CRP	C-reactive protein	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22333691|REF_RGD_ID:6482311
12099469	CRP	C-reactive protein	gene	DOID:9004484	Sepsis		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:21797109|REF_RGD_ID:6482315
12099469	CRP	C-reactive protein	gene	DOID:9004484	Sepsis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:19060982|REF_RGD_ID:9491784
12099469	CRP	C-reactive protein	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Lupus Nephritis; protein:increased expression:serum	PMID:21076530|REF_RGD_ID:6907433
12099469	CRP	C-reactive protein	gene	DOID:9005036	Bacteremia		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18443549|REF_RGD_ID:9491402
12099469	CRP	C-reactive protein	gene	DOID:9005171	Acute Uveitis		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:24697218|REF_RGD_ID:9491782
12099469	CRP	C-reactive protein	gene	DOID:9005171	Acute Uveitis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:11914210|REF_RGD_ID:9491833
12099469	CRP	C-reactive protein	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17114654
12099469	CRP	C-reactive protein	gene	DOID:9005372	Inflammation		ISO	RGD:736633	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: inflammation	
12099469	CRP	C-reactive protein	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10398	D	RGD:9068941	20200609	RGD			PMID:21736794|REF_RGD_ID:6907422
12099469	CRP	C-reactive protein	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:21736771|REF_RGD_ID:6482316
12099469	CRP	C-reactive protein	gene	DOID:9005666	Contrast-Induced Nephropathy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with coronary disease;	PMID:23102387|REF_RGD_ID:6909166
12099469	CRP	C-reactive protein	gene	DOID:9006404	Tubulointerstitial Nephritis and Uveitis	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20813859|REF_RGD_ID:6907435
12099469	CRP	C-reactive protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11893366
12099469	CRP	C-reactive protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16644639
12099469	CRP	C-reactive protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:21357282|REF_RGD_ID:6482318
12099469	CRP	C-reactive protein	gene	DOID:9006865	Fever of Unknown Origin		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:7506886|REF_RGD_ID:9491382
12099469	CRP	C-reactive protein	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21122204|REF_RGD_ID:5128547
12099469	CRP	C-reactive protein	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11840375
12099469	CRP	C-reactive protein	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12099469	CRP	C-reactive protein	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:19561148|REF_RGD_ID:5131464
12099469	CRP	C-reactive protein	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;	PMID:22864910|REF_RGD_ID:6906966
12099469	CRP	C-reactive protein	gene	DOID:9007730	Burns		ISO	RGD:2411	D	RGD:9068941	20200609	RGD			PMID:20664819|REF_RGD_ID:5131457
12099469	CRP	C-reactive protein	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine:	PMID:17981193|REF_RGD_ID:5129536
12099469	CRP	C-reactive protein	gene	DOID:9007806	Drug Hypersensitivity Syndrome		ISO	RGD:736633	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34142820
12099469	CRP	C-reactive protein	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2411	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21122204|REF_RGD_ID:5128547
12099469	CRP	C-reactive protein	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22521605
12099469	CRP	C-reactive protein	gene	DOID:9008212	Diabetic Foot	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:22712631|REF_RGD_ID:6906887
12099469	CRP	C-reactive protein	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17400294|REF_RGD_ID:9491775
12099469	CRP	C-reactive protein	gene	DOID:9008652	Postoperative Atrial Fibrillation	no_association	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17383336|REF_RGD_ID:9495909
12099469	CRP	C-reactive protein	gene	DOID:9008746	Pasteurellaceae Infections		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755360
12099469	CRP	C-reactive protein	gene	DOID:9065	leishmaniasis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17218153
12099469	CRP	C-reactive protein	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17718048
12099469	CRP	C-reactive protein	gene	DOID:9074	systemic lupus erythematosus	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:17014014|REF_RGD_ID:6907402
12099469	CRP	C-reactive protein	gene	DOID:9074	systemic lupus erythematosus	no_association	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:20039408|REF_RGD_ID:6909146
12099469	CRP	C-reactive protein	gene	DOID:9074	systemic lupus erythematosus	treatment	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:8261665|REF_RGD_ID:6909144
12099469	CRP	C-reactive protein	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10467834
12099469	CRP	C-reactive protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:16764962|REF_RGD_ID:9491772
12099469	CRP	C-reactive protein	gene	DOID:9463	otitis externa	disease_progression	ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22032882|REF_RGD_ID:9491591
12099469	CRP	C-reactive protein	gene	DOID:9470	bacterial meningitis		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:6122844|REF_RGD_ID:9491388
12099469	CRP	C-reactive protein	gene	DOID:9471	meningitis		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14513990
12099469	CRP	C-reactive protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20012460
12099469	CRP	C-reactive protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736633	D	RGD:9068941	20200609	RGD			PMID:22864910|REF_RGD_ID:6906966
12099469	CRP	C-reactive protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20012460|REF_RGD_ID:8547537
12099469	CRP	C-reactive protein	gene	DOID:9970	obesity		ISO	RGD:736633	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24042701
12099469	CRP	C-reactive protein	gene	DOID:9970	obesity		ISO	RGD:736633	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20660932|REF_RGD_ID:5490970
12099469	CRP	C-reactive protein	gene	DOID:9970	obesity	disease_progression	ISO	RGD:2411	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1314335	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: Pulmonary arteriovenous malformation	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:3275	thymoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:9002189	High Myopia		ISO	RGD:1314335	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099510	CIAO3	cytosolic iron-sulfur assembly component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314335	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099534	VASH2	vasohibin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099534	VASH2	vasohibin 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1602689	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12099534	VASH2	vasohibin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099534	VASH2	vasohibin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099534	VASH2	vasohibin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099534	VASH2	vasohibin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:28492532
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:25741868|PMID:28492532
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606823	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0061244	glucocorticoid deficiency 5		ISO	RGD:1606823	D	RGD:7240710	20190315	OMIM			
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0061244	glucocorticoid deficiency 5		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucocorticoid deficiency 5 | ClinVar Annotator: match by term: TXNRD2-related condition	PMID:16199547|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28416588|PMID:28492532|PMID:31712860|PMID:32257832
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:28492532
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1606823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752265
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28166811|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:9536098
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606823	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17576681|PMID:21247928|PMID:24601690|PMID:25741868|PMID:26300845|PMID:28074886|PMID:28416588|PMID:28492532|PMID:31712860|PMID:31983221|PMID:32257832|PMID:9536098
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:3275	thymoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16199547|PMID:25741868|PMID:28492532
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:25741868|PMID:28492532
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61960	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex	PMID:19128823|REF_RGD_ID:5685030
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61960	D	RGD:9068941	20200609	RGD		mRNA:altered expression:myocardium (rat)	PMID:20571744|REF_RGD_ID:5133714
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9005834	Ependymomas		ISO	RGD:1606823	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099549	TXNRD2	thioredoxin reductase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16199547|PMID:25741868|PMID:28492532
12099582	BAG2	BAG cochaperone 2	gene	DOID:0061098	Carpenter syndrome 1		ISO	RGD:11588202|RGD:11595491|RGD:11598228|RGD:11653951|RGD:28867705|RGD:28867706|RGD:28867708|RGD:28867709|RGD:28867711|RGD:28867713|RGD:28867714|RGD:28871659|RGD:28871663|RGD:28871665|RGD:28871668|RGD:28906604|RGD:28906606|RGD:28906608|RGD:28906610|RGD:28906788|RGD:28906791|RGD:28906792|RGD:28909040|RGD:28909043|RGD:28909046|RGD:28909048|RGD:28909049|RGD:28909050|RGD:28909053|RGD:28909055|RGD:28909245|RGD:28909247	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Carpenter syndrome 1 | ClinVar Annotator: match by term: RAB23-related condition	
12099582	BAG2	BAG cochaperone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1313498	D	RGD:9068941	20200609	RGD			PMID:12021784|REF_RGD_ID:1599171
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:10534	stomach cancer		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:1059	intellectual disability		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28343630|PMID:28492532
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:1115	sarcoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:11383	cryptorchidism		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:11782	astigmatism		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:1612	breast cancer		ISO	RGD:1313498	D	RGD:7240710	20180711	OMIM			
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:2030	anxiety disorder		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:2394	ovarian cancer		ISO	RGD:1313498	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:3070	high grade glioma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:540	strabismus		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:630	genetic disease		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27479843|PMID:28135719|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:36413997|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9002777	Brain Stem Neoplasms		ISO	RGD:1313498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880341
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9003126	Hallucinations		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9004839	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD		ISO	RGD:1313498	D	RGD:7240710	20190315	OMIM			
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9004839	INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold | ClinVar Annotator: match by term: JANSEN-DE VRIES SYNDROME | ClinVar Annotator: match by term: PPM1D-related condition	PMID:17932621|PMID:23649806|PMID:23907125|PMID:24262437|PMID:24880341|PMID:25741868|PMID:27713908|PMID:27993330|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:29758292|PMID:29758562|PMID:30216591|PMID:30388424|PMID:30795918|PMID:30850729|PMID:31916397|PMID:33057194|PMID:33528536|PMID:34312540|PMID:35982159|PMID:37183572|PMID:37709843
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9005077	Joint Instability		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1313498	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9007573	Flatfoot		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008675	Dyskinesias		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:23907125|PMID:24262437|PMID:25741868|PMID:28343630|PMID:28492532|PMID:28852847|PMID:29752822|PMID:30216591|PMID:30388424|PMID:37378944
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9834	hyperopia		ISO	RGD:1313498	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28343630|PMID:28492532|PMID:29758292|PMID:30795918|PMID:33057194|PMID:33528536|PMID:35982159|PMID:37183572
12099590	PPM1D	protein phosphatase, Mg2+/Mn2+ dependent 1D	gene	DOID:9970	obesity		ISO	RGD:1313498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735951	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:0050700	cardiomyopathy		ISO	RGD:61835	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19000375|REF_RGD_ID:2302065
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:62126	D	RGD:9068941	20220825	MouseDO			
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:12361	Graves' disease		ISO	RGD:735951	D	RGD:9068941	20200609	RGD			PMID:15497458|REF_RGD_ID:1580387
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:6000	congestive heart failure		ISO	RGD:61835	D	RGD:9068941	20200609	RGD		associated with Shock, Septic	PMID:17637193|REF_RGD_ID:2302075
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61835	D	RGD:9068941	20230622	RGD			PMID:27998200|REF_RGD_ID:329853757
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:61835	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:17506935|REF_RGD_ID:2302077
12099600	FKBP1B	FKBP prolyl isomerase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL	
12099623	YPEL3	yippee like 3	gene	DOID:0050847	sleep apnea		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:0060260	ptosis		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1347620	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099623	YPEL3	yippee like 3	gene	DOID:11720	distal myopathy		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099623	YPEL3	yippee like 3	gene	DOID:4977	lymphedema		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12099623	YPEL3	yippee like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099623	YPEL3	yippee like 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12099623	YPEL3	yippee like 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12099623	YPEL3	yippee like 3	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9002554	Tachycardia		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698777|RGD:14698779|RGD:14698789	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12099623	YPEL3	yippee like 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1347620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12099635	THAP8	THAP domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1604488	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604488	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099655	LYPD5	LY6/PLAUR domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604488	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:1324	lung cancer		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:3275	thymoma		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099681	MPP4	MAGUK p55 scaffold protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:736562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20557099
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:0080217	lysosomal acid lipase deficiency		ISO	RGD:736562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acid cholesteryl ester hydrolase deficiency, type 2 | ClinVar Annotator: match by term: Acid lipase disease | ClinVar Annotator: match by term: Lysosomal acid lipase deficiency	PMID:1056246|PMID:10562460|PMID:10627498|PMID:10746035|PMID:11441129|PMID:16199547|PMID:16255772|PMID:16278825|PMID:17576681|PMID:18492689|PMID:18775687|PMID:20823128|PMID:21248318|PMID:2129132|PMID:21291321|PMID:21757691|PMID:21963785|PMID:22227072|PMID:23424026|PMID:23485521|PMID:23583223|PMID:24033266|PMID:24048164|PMID:24072694|PMID:24792990|PMID:24832708|PMID:24993530|PMID:25620107|PMID:25624737|PMID:25722898|PMID:25741868|PMID:25852113|PMID:26225414|PMID:26252914|PMID:26350820|PMID:26913919|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28391883|PMID:28492532|PMID:28502505|PMID:28502515|PMID:28881270|PMID:29196158|PMID:29705274|PMID:29958253|PMID:30249571|PMID:30315827|PMID:30684275|PMID:31113597|PMID:31131398|PMID:31180157|PMID:31182375|PMID:31249784|PMID:31340901|PMID:31392116|PMID:32041611|PMID:32058863|PMID:32382506|PMID:32432142|PMID:33857477|PMID:35606784|PMID:35614200|PMID:35903350|PMID:37291213|PMID:38730490|PMID:38918870|PMID:7499245|PMID:7751811|PMID:7759067|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8254026|PMID:8598644|PMID:8617513|PMID:8894696|PMID:9367797|PMID:9536098|PMID:9554751|PMID:9633819|PMID:9684740|PMID:9925650
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:0080600	COVID-19		ISO	RGD:736562	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:1115	sarcoma		ISO	RGD:736562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:14497	Wolman disease		ISO	RGD:736562	D	RGD:7240710	20230607	OMIM			
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:14497	Wolman disease		ISO	RGD:736562	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOLESTEROL ESTER HYDROLASE DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: WOLMAN DISEASE | ClinVar Annotator: match by term: Wolman disease	PMID:10562460|PMID:11441129|PMID:16199547|PMID:16278825|PMID:17576681|PMID:18492689|PMID:19307143|PMID:19763152|PMID:20307669|PMID:20823128|PMID:21248318|PMID:2129132|PMID:21291321|PMID:22138108|PMID:22227072|PMID:22406018|PMID:23424026|PMID:23430518|PMID:23485521|PMID:23583223|PMID:24048164|PMID:25620107|PMID:25624737|PMID:25741868|PMID:25852113|PMID:26252914|PMID:26350820|PMID:27423329|PMID:27624512|PMID:28220406|PMID:28374935|PMID:28468868|PMID:28492532|PMID:28502505|PMID:28881270|PMID:29196158|PMID:29958253|PMID:30665623|PMID:30684275|PMID:31131398|PMID:31180157|PMID:32041611|PMID:33457437|PMID:33568092|PMID:33857477|PMID:38564148|PMID:7499245|PMID:7773732|PMID:7833918|PMID:8146180|PMID:8598644|PMID:8617513|PMID:8864960|PMID:8894696|PMID:8956047|PMID:9536098|PMID:9684740
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:14502	cholesterol ester storage disease		ISO	RGD:736562	D	RGD:7240710	20240228	OMIM			
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:14502	cholesterol ester storage disease		ISO	RGD:736562	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOLESTERYL ESTER STORAGE DISEASE | ClinVar Annotator: match by term: Cholesteryl ester storage disease | ClinVar Annotator: match by term: LIPA-related condition	PMID:11441129|PMID:16199547|PMID:16278825|PMID:17576681|PMID:18492689|PMID:20823128|PMID:21248318|PMID:2129132|PMID:21291321|PMID:22227072|PMID:23424026|PMID:23485521|PMID:23583223|PMID:23675960|PMID:25525159|PMID:25741868|PMID:26252914|PMID:27423329|PMID:28374935|PMID:28492532|PMID:28502515|PMID:28881270|PMID:29196158|PMID:30684275|PMID:31131398|PMID:31180157|PMID:31230978|PMID:33857477|PMID:35535100|PMID:35614200|PMID:7499245|PMID:8146180|PMID:8598644|PMID:8617513|PMID:8894696|PMID:9536098|PMID:9684740
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:3070	high grade glioma		ISO	RGD:736562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:3275	thymoma		ISO	RGD:736562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:3393	coronary artery disease		ISO	RGD:736562	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378988|PMID:34961328|PMID:35590109
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736562	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736562	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:9000784	Fibrosis		ISO	RGD:736562	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:35679793
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:9004186	Wolman Disease with Hypolipoproteinemia and Acanthocytosis		ISO	RGD:736562	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Wolman disease with hypolipoproteinemia and acanthocytosis	PMID:11441129|PMID:16278825|PMID:18492689|PMID:20823128|PMID:21248318|PMID:2129132|PMID:21291321|PMID:22227072|PMID:23424026|PMID:23485521|PMID:23583223|PMID:25741868|PMID:26252914|PMID:27423329|PMID:28374935|PMID:28492532|PMID:28881270|PMID:29196158|PMID:30684275|PMID:31131398|PMID:32041611|PMID:33857477|PMID:8617513|PMID:8894696|PMID:9684740
12099706	LIPA	lipase A, lysosomal acid type	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099727	COPS4	COP9 signalosome subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099745	FAM3D	FAM3 metabolism regulating signaling molecule D	gene	DOID:10534	stomach cancer		ISO	RGD:1313583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099745	FAM3D	FAM3 metabolism regulating signaling molecule D	gene	DOID:5041	esophageal cancer		ISO	RGD:1313583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099745	FAM3D	FAM3 metabolism regulating signaling molecule D	gene	DOID:5419	schizophrenia		ISO	RGD:1313583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12099745	FAM3D	FAM3 metabolism regulating signaling molecule D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1320830	D	RGD:9068941	20200609	RGD			PMID:16373701|REF_RGD_ID:2317953
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma		ISO	RGD:1320830	D	RGD:7240710	20180130	OMIM			
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:0080664	diaphyseal medullary stenosis with malignant fibrous histiocytoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphyseal medullary stenosis with malignant fibrous histiocytoma | ClinVar Annotator: match by term: MTAP-related condition	PMID:25741868
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:10534	stomach cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:1115	sarcoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:1324	lung cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320830	D	RGD:9068941	20200609	RGD		DNA, protein:deletion, decreased activity:pancreas:	PMID:15534104|REF_RGD_ID:2317952
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:1909	melanoma		ISO	RGD:1320830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578364
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:4362	cervical cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:4608	common bile duct neoplasm		ISO	RGD:1320830	D	RGD:9068941	20200609	RGD		DNA, protein:deletion, decreased expression:common bile duct:	PMID:15662124|REF_RGD_ID:2317954
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1320830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:9002969	Nevus		ISO	RGD:1320830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19578365
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12099891	MTAP	methylthioadenosine phosphorylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12099906	SEPTIN14	septin 14	gene	DOID:1324	lung cancer		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12099906	SEPTIN14	septin 14	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1602813	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:rs10241628, rs11981883, rs77231105 (human)	PMID:27115672|REF_RGD_ID:13504669
12099906	SEPTIN14	septin 14	gene	DOID:1909	melanoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099906	SEPTIN14	septin 14	gene	DOID:3068	glioblastoma		ISO	RGD:1602813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
12099906	SEPTIN14	septin 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12099906	SEPTIN14	septin 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12099906	SEPTIN14	septin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099906	SEPTIN14	septin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung myofibroblast:	PMID:22582174|REF_RGD_ID:11341695
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16105982
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD			PMID:14562111|REF_RGD_ID:11341680
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15924153
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:1240	leukemia		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970779
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:1793	pancreatic cancer		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20876774
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731977	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung myofibroblast:	PMID:22582174|REF_RGD_ID:11341695
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:6000	congestive heart failure		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:cardiomyocyte:	PMID:11033112|REF_RGD_ID:11341730
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1347509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17659339
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1347509	D	RGD:9068941	20200609	RGD		protein:decreased expression:endothelial cell,macrophage:	PMID:10623660|REF_RGD_ID:11341688
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9006182	Carotid Artery Injuries	disease_progression	ISO	RGD:620847	D	RGD:9068941	20200609	RGD			PMID:10623660|REF_RGD_ID:11341688
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9007480	Hyperoxia		ISO	RGD:620847	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex (rat)	PMID:19107989|REF_RGD_ID:8662854
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620847	D	RGD:9068941	20200609	RGD			PMID:18466417|REF_RGD_ID:11341714
12099934	CFLAR	CASP8 and FADD like apoptosis regulator	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1347509	D	RGD:9068941	20200609	RGD			PMID:23167276|REF_RGD_ID:11341679
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISO	RGD:1606716	D	RGD:7240710	20180130	OMIM			
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0060886	osteopathia striata with cranial sclerosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMER1-related condition | ClinVar Annotator: match by term: HYPEROSTOSIS GENERALISATA WITH STRIATIONS | ClinVar Annotator: match by term: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS | ClinVar Annotator: match by term: Osteopathia striata with cranial sclerosis | ClinVar Annotator: match by term: osteopathia striata with cranial sclerosis	PMID:19079258|PMID:21498506|PMID:22043478|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:28492532|PMID:32879452|PMID:35101336
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0080216	duodenal atresia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:0111829	X-linked spinocerebellar ataxia 1		ISO	RGD:1606716	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia, X-linked	PMID:26242992|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:10488	imperforate anus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532|PMID:36474027
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:1074	kidney failure		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:12639	pyloric stenosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:19079258|PMID:21498506|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:32879452|PMID:35101336
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:630	genetic disease		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19079258|PMID:21498506|PMID:22716240|PMID:24033266|PMID:25741868|PMID:27369646|PMID:28492532|PMID:32879452|PMID:35101336
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:674	cleft palate		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:19079258|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19079258|PMID:22043478|PMID:25741868|PMID:28492532
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9008945	Gram-Negative Bacterial Infections		ISO	RGD:1606716	D	RGD:9068941	20220317	RGD		associated with colorectal cancer;DNA:mutation:multiple (human)	PMID:30062471|REF_RGD_ID:151665182
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606716	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606716	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532|PMID:34549727|PMID:34771502
12099973	AMER1	APC membrane recruitment protein 1	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1606716	D	RGD:9068941	20220317	RGD		DNA:mutations: (human)	PMID:31243121|REF_RGD_ID:151665183
12099979	PINK1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:7240710	20180130	OMIM			
12099979	PINK1	PTEN induced kinase 1	gene	DOID:0060369	Parkinson's disease 6		ISO	RGD:1314001	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive early-onset Parkinson disease 6 | ClinVar Annotator: match by term: PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 6, autosomal recessive early-onset	PMID:15087508|PMID:15349860|PMID:15349870|PMID:15584030|PMID:16009891|PMID:16199547|PMID:17576681|PMID:18286320|PMID:18330912|PMID:18685134|PMID:20798600|PMID:21488273|PMID:21925922|PMID:22644621|PMID:23063710|PMID:23303188|PMID:23459931|PMID:23880019|PMID:24677602|PMID:25741868|PMID:26467025|PMID:27926857|PMID:28492532|PMID:28849312|PMID:31324919|PMID:32713623|PMID:33845304|PMID:35042401|PMID:37750340|PMID:9536098
12099979	PINK1	PTEN induced kinase 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1314001	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	
12099979	PINK1	PTEN induced kinase 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1305769	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
12099979	PINK1	PTEN induced kinase 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonism	PMID:24033266
12099979	PINK1	PTEN induced kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12099979	PINK1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1305769	D	RGD:9068941	20250724	RGD			PMID:24157858|PMID:25421206|REF_RGD_ID:11560775|REF_RGD_ID:12880446
12099979	PINK1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:17010972|PMID:21366594|PMID:22043175|PMID:24374061|PMID:25149416|PMID:30734931
12099979	PINK1	PTEN induced kinase 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1314001	D	RGD:9068941	20250724	RGD			PMID:25639775|PMID:26223426|REF_RGD_ID:10450518|REF_RGD_ID:10450521
12099979	PINK1	PTEN induced kinase 1	gene	DOID:1561	cognitive disorder		ISO	RGD:1314001	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36804394
12099979	PINK1	PTEN induced kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099979	PINK1	PTEN induced kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1314001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12099979	PINK1	PTEN induced kinase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314001	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334666
12099979	PINK1	PTEN induced kinase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24161480
12099979	PINK1	PTEN induced kinase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1314001	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35312153
12099995	C2	complement C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12099995	C2	complement C2	gene	DOID:0060295	complement component 2 deficiency		ISO	RGD:1353499	D	RGD:7240710	20180130	OMIM			
12099995	C2	complement C2	gene	DOID:0060295	complement component 2 deficiency		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C2 DEFICIENCY, TYPE II | ClinVar Annotator: match by term: C2-related condition | ClinVar Annotator: match by term: C2-related disorder | ClinVar Annotator: match by term: Complement component 2 deficiency	PMID:1542325|PMID:25741868|PMID:28492532|PMID:29148534|PMID:8621452
12099995	C2	complement C2	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353499	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:35753512|PMID:6308626|PMID:8181962|PMID:9616367
12099995	C2	complement C2	gene	DOID:0080600	COVID-19		ISO	RGD:1353499	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12099995	C2	complement C2	gene	DOID:0110026	age related macular degeneration 14		ISO	RGD:1353499	D	RGD:7240710	20180130	OMIM			
12099995	C2	complement C2	gene	DOID:0110026	age related macular degeneration 14		ISO	RGD:1353499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 14	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12099995	C2	complement C2	gene	DOID:10223	dermatomyositis		ISO	RGD:1353499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3501473
12099995	C2	complement C2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :p.E318D (rs9332739) (human)	PMID:22300950|REF_RGD_ID:7401250
12099995	C2	complement C2	gene	DOID:10754	otitis media		ISO	RGD:10255	D	RGD:9068941	20200609	RGD		associated with Pneumococcal Infections	PMID:20065024|REF_RGD_ID:7411716
12099995	C2	complement C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12099995	C2	complement C2	gene	DOID:1115	sarcoma		ISO	RGD:1353499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12099995	C2	complement C2	gene	DOID:1324	lung cancer		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12099995	C2	complement C2	gene	DOID:1407	anterior uveitis	no_association	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3020644 (human)	PMID:22714898|REF_RGD_ID:7411695
12099995	C2	complement C2	gene	DOID:1909	melanoma		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12099995	C2	complement C2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12099995	C2	complement C2	gene	DOID:2772	irritant dermatitis		ISO	RGD:1353499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27258892
12099995	C2	complement C2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1353499	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12099995	C2	complement C2	gene	DOID:4362	cervical cancer		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12099995	C2	complement C2	gene	DOID:4448	macular degeneration		ISO	RGD:1353499	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:1577763|PMID:16199547|PMID:16518403|PMID:16936732|PMID:17576681|PMID:18806293|PMID:20108004|PMID:20513133|PMID:21541267|PMID:22440158|PMID:2249879|PMID:24033266|PMID:24652797|PMID:25741868|PMID:28492532|PMID:35753512|PMID:6308626|PMID:8181962|PMID:9536098|PMID:9616367
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:missense mutation, snp:cds, intron:p.E318D, c.1360+62G>T (rs9332739, rs547154) (human)	PMID:22273503|REF_RGD_ID:7411731
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.E318D (rs9332739) (human)	PMID:19169232|PMID:23112567|REF_RGD_ID:7411691|REF_RGD_ID:7411693
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:c.1360+62G>T (rs547154) (human)	PMID:18806293|REF_RGD_ID:7411713
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.1360+62G>T (rs547154) (human)	PMID:22232432|REF_RGD_ID:7411694
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.E318D (rs9332739) (human)	PMID:23233260|REF_RGD_ID:7411720
12099995	C2	complement C2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16518403|REF_RGD_ID:1600582
12099995	C2	complement C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12099995	C2	complement C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12099995	C2	complement C2	gene	DOID:8893	psoriasis		ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :C2*2 (human)	PMID:6559061|REF_RGD_ID:7411727
12099995	C2	complement C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12099995	C2	complement C2	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:2231	D	RGD:9068941	20201211	RGD		DNA:SNP:exon: p.Glu318Asp (human)	PMID:22610944|REF_RGD_ID:40886317
12099995	C2	complement C2	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	susceptibility	ISO	RGD:1353499	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.1360+62G>T (rs547154) (human)	PMID:22232432|REF_RGD_ID:7411694
12099995	C2	complement C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12099995	C2	complement C2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353499	D	RGD:9068941	20200609	RGD			PMID:6409476|REF_RGD_ID:7421516
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:10283	prostate cancer		ISO	RGD:1604355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:10534	stomach cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:1115	sarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:1324	lung cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:1909	melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:2394	ovarian cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:4362	cervical cancer		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:5041	esophageal cancer		ISO	RGD:1604355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:6039	uveal melanoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:9001488	Human Influenza		ISO	RGD:1604355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100017	DDX60	DExD/H-box helicase 60	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100063	MGAM	maltase-glucoamylase	gene	DOID:10534	stomach cancer		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100063	MGAM	maltase-glucoamylase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100063	MGAM	maltase-glucoamylase	gene	DOID:1909	melanoma		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100063	MGAM	maltase-glucoamylase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12100063	MGAM	maltase-glucoamylase	gene	DOID:3275	thymoma		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100063	MGAM	maltase-glucoamylase	gene	DOID:4362	cervical cancer		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100063	MGAM	maltase-glucoamylase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100063	MGAM	maltase-glucoamylase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318097	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100063	MGAM	maltase-glucoamylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100063	MGAM	maltase-glucoamylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318097	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12100173	ANXA1	annexin A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100173	ANXA1	annexin A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100173	ANXA1	annexin A1	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		protein:decreased expression:mammary gland	PMID:22323911|REF_RGD_ID:7421537
12100173	ANXA1	annexin A1	gene	DOID:0060180	colitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:colon, neutrophil	PMID:10489933|REF_RGD_ID:2306920
12100173	ANXA1	annexin A1	gene	DOID:0080600	COVID-19		ISO	RGD:730873	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12100173	ANXA1	annexin A1	gene	DOID:10140	dry eye syndrome		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:23201116|REF_RGD_ID:7421553
12100173	ANXA1	annexin A1	gene	DOID:10247	pleurisy		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:15784654|REF_RGD_ID:2306907
12100173	ANXA1	annexin A1	gene	DOID:10534	stomach cancer		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:23236538|REF_RGD_ID:7421587
12100173	ANXA1	annexin A1	gene	DOID:10763	hypertension		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:altered localization:vascular associated smooth muscle cell	PMID:16109804|REF_RGD_ID:1599668
12100173	ANXA1	annexin A1	gene	DOID:10763	hypertension		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12100173	ANXA1	annexin A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100173	ANXA1	annexin A1	gene	DOID:1115	sarcoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100173	ANXA1	annexin A1	gene	DOID:13141	uveitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23645879|REF_RGD_ID:7421538
12100173	ANXA1	annexin A1	gene	DOID:13141	uveitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:21633711|REF_RGD_ID:7421539
12100173	ANXA1	annexin A1	gene	DOID:13141	uveitis	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:23645879|REF_RGD_ID:7421538
12100173	ANXA1	annexin A1	gene	DOID:1350	paranasal sinus benign neoplasm		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20970165|REF_RGD_ID:7421559
12100173	ANXA1	annexin A1	gene	DOID:1459	hypothyroidism		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9022675|REF_RGD_ID:2306952
12100173	ANXA1	annexin A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12100173	ANXA1	annexin A1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
12100173	ANXA1	annexin A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:19173988|REF_RGD_ID:2325722
12100173	ANXA1	annexin A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17974280|REF_RGD_ID:2325723
12100173	ANXA1	annexin A1	gene	DOID:1909	melanoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100173	ANXA1	annexin A1	gene	DOID:2316	brain ischemia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:1830327|REF_RGD_ID:7421662
12100173	ANXA1	annexin A1	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:1830327|REF_RGD_ID:7421662
12100173	ANXA1	annexin A1	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:urinary bladder	PMID:17994624|REF_RGD_ID:2306889
12100173	ANXA1	annexin A1	gene	DOID:2734	keratosis follicularis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
12100173	ANXA1	annexin A1	gene	DOID:2773	contact dermatitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
12100173	ANXA1	annexin A1	gene	DOID:2841	asthma		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22092555|REF_RGD_ID:7421657
12100173	ANXA1	annexin A1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:18776816|REF_RGD_ID:7421535
12100173	ANXA1	annexin A1	gene	DOID:3008	invasive ductal carcinoma	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:19171478|REF_RGD_ID:7421560
12100173	ANXA1	annexin A1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:22101490|REF_RGD_ID:7421583
12100173	ANXA1	annexin A1	gene	DOID:305	carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
12100173	ANXA1	annexin A1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Tuberous Sclerosis;mRNA:increased expression:brain	PMID:20133820|REF_RGD_ID:7421564
12100173	ANXA1	annexin A1	gene	DOID:326	ischemia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:17653046|REF_RGD_ID:2306896
12100173	ANXA1	annexin A1	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Ischemic Attack, Transient	PMID:22617647|REF_RGD_ID:7483559
12100173	ANXA1	annexin A1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12100173	ANXA1	annexin A1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:9269316|REF_RGD_ID:2306948
12100173	ANXA1	annexin A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12100173	ANXA1	annexin A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12100173	ANXA1	annexin A1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:14587099|REF_RGD_ID:7421570
12100173	ANXA1	annexin A1	gene	DOID:557	kidney disease		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20484890
12100173	ANXA1	annexin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100173	ANXA1	annexin A1	gene	DOID:6498	seborrheic keratosis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
12100173	ANXA1	annexin A1	gene	DOID:76	stomach disease		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15472012
12100173	ANXA1	annexin A1	gene	DOID:7998	hyperthyroidism		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9022675|REF_RGD_ID:2306952
12100173	ANXA1	annexin A1	gene	DOID:83	cataract		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		DNA, protein:polymorphism: :p.R212I (mouse)	PMID:19003866|REF_RGD_ID:7421556
12100173	ANXA1	annexin A1	gene	DOID:83	cataract		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:1385581|REF_RGD_ID:7421566
12100173	ANXA1	annexin A1	gene	DOID:8893	psoriasis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:8919037|REF_RGD_ID:7421562
12100173	ANXA1	annexin A1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:neuron,glial cell	PMID:15248295|REF_RGD_ID:10053688
12100173	ANXA1	annexin A1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:17917587|REF_RGD_ID:2306891
12100173	ANXA1	annexin A1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12100173	ANXA1	annexin A1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942|PMID:22248470
12100173	ANXA1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20308542|PMID:20821804|REF_RGD_ID:7421541|REF_RGD_ID:7421563
12100173	ANXA1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20308542|REF_RGD_ID:7421563
12100173	ANXA1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental;protein:increased expression:lung	PMID:9514092|REF_RGD_ID:2306939
12100173	ANXA1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20308542
12100173	ANXA1	annexin A1	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:20821804|REF_RGD_ID:7421541
12100173	ANXA1	annexin A1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20549082|REF_RGD_ID:7421567
12100173	ANXA1	annexin A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8755646|REF_RGD_ID:2306954
12100173	ANXA1	annexin A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12100173	ANXA1	annexin A1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:9222544|REF_RGD_ID:2306950
12100173	ANXA1	annexin A1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion	PMID:21990306|REF_RGD_ID:7421656
12100173	ANXA1	annexin A1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
12100173	ANXA1	annexin A1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
12100173	ANXA1	annexin A1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:10403283|REF_RGD_ID:2306928
12100173	ANXA1	annexin A1	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:23267026|REF_RGD_ID:7421573
12100173	ANXA1	annexin A1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16034371|REF_RGD_ID:2306905
12100173	ANXA1	annexin A1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte, macrophage	PMID:9472682|REF_RGD_ID:2306942
12100173	ANXA1	annexin A1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22782996|REF_RGD_ID:7421558
12100173	ANXA1	annexin A1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15654357
12100173	ANXA1	annexin A1	gene	DOID:9004945	Ocular Toxoplasmosis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22740770|REF_RGD_ID:7421536
12100173	ANXA1	annexin A1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:16316942|REF_RGD_ID:2306898
12100173	ANXA1	annexin A1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
12100173	ANXA1	annexin A1	gene	DOID:9005372	Inflammation		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:mast cell granule, cytoplasm	PMID:11005211|REF_RGD_ID:7421660
12100173	ANXA1	annexin A1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased glycation:respiratory system blood vessel endothelium	PMID:11423489|REF_RGD_ID:2306888
12100173	ANXA1	annexin A1	gene	DOID:9005941	Rhinosinusitis		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Nasal Polyps	PMID:22279949|REF_RGD_ID:7421555
12100173	ANXA1	annexin A1	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2118	D	RGD:9068941	20200609	RGD			PMID:20953576|REF_RGD_ID:7421585
12100173	ANXA1	annexin A1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve	PMID:10603033|REF_RGD_ID:2306914
12100173	ANXA1	annexin A1	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20701627|REF_RGD_ID:7421565
12100173	ANXA1	annexin A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100173	ANXA1	annexin A1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12100173	ANXA1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:10164	D	RGD:9068941	20200609	RGD			PMID:22924634|REF_RGD_ID:7421655
12100173	ANXA1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2118	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, leukocyte	PMID:11641252|REF_RGD_ID:2306910
12100173	ANXA1	annexin A1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:22924634|REF_RGD_ID:7421655
12100173	ANXA1	annexin A1	gene	DOID:9008110	Blister		ISO	RGD:730873	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity, Delayed;protein:increased expression:mononuclear cell	PMID:10331485|REF_RGD_ID:7421575
12100173	ANXA1	annexin A1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17405164
12100173	ANXA1	annexin A1	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730873	D	RGD:9068941	20200609	RGD			PMID:20353277|REF_RGD_ID:7421540
12100173	ANXA1	annexin A1	gene	DOID:9588	encephalitis		ISO	RGD:10164	D	RGD:9068941	20200609	RGD		associated with Sepsis	PMID:22964301|REF_RGD_ID:7421580
12100190	KDM4B	lysine demethylase 4B	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349901	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12100190	KDM4B	lysine demethylase 4B	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (human)	PMID:19270706|REF_RGD_ID:9587481
12100190	KDM4B	lysine demethylase 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:0061038	autosomal dominant intellectual developmental disorder 65		ISO	RGD:1349901	D	RGD:7240710	20210526	OMIM			
12100190	KDM4B	lysine demethylase 4B	gene	DOID:0061038	autosomal dominant intellectual developmental disorder 65		ISO	RGD:1349901	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 65 | ClinVar Annotator: match by term: KDM4B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 65	PMID:25741868|PMID:29758562|PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:10283	prostate cancer		ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate (human)	PMID:22120715|REF_RGD_ID:9586733
12100190	KDM4B	lysine demethylase 4B	gene	DOID:10534	stomach cancer		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:24077348|REF_RGD_ID:9587753
12100190	KDM4B	lysine demethylase 4B	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22133676|REF_RGD_ID:9587739
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1059	intellectual disability		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1115	sarcoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1324	lung cancer		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:21445275|REF_RGD_ID:9587754
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:21445275|REF_RGD_ID:9587754
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1824	status epilepticus		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1826	epilepsy		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:1909	melanoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:2234	focal epilepsy		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:3070	high grade glioma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:5940	malignant peripheral nerve sheath tumor		ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (human)	PMID:21785329|REF_RGD_ID:9587769
12100190	KDM4B	lysine demethylase 4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:630	genetic disease		ISO	RGD:1349901	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349901	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33232677
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		protein:increased expression:colon mucosa (human)	PMID:22345654|REF_RGD_ID:9586735
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9008582	Developmental Disease		ISO	RGD:1349901	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9256	colorectal cancer		ISO	RGD:1349901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:24473398|REF_RGD_ID:9587755
12100190	KDM4B	lysine demethylase 4B	gene	DOID:986	alopecia areata		ISO	RGD:1349901	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:21936853|REF_RGD_ID:9587460
12100190	KDM4B	lysine demethylase 4B	gene	DOID:9970	obesity		ISO	RGD:1349901	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:33232677
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:3275	thymoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100229	PLA2G12A	phospholipase A2 group XIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100237	SPRYD4	SPRY domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100243	GAS2L3	growth arrest specific 2 like 3	gene	DOID:0080600	COVID-19		ISO	RGD:1315710	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12100243	GAS2L3	growth arrest specific 2 like 3	gene	DOID:1909	melanoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100243	GAS2L3	growth arrest specific 2 like 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12100243	GAS2L3	growth arrest specific 2 like 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100243	GAS2L3	growth arrest specific 2 like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:732446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12511956
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:61862	D	RGD:9068941	20241212	RGD		protein:decreased expression:neocortex (rat)	PMID:12036520|REF_RGD_ID:405820203
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:61862	D	RGD:9068941	20241212	RGD		protein:increased expression:ventral CA1 field of hippocampus (rat)	PMID:30481568|REF_RGD_ID:596933081
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1824	status epilepticus		ISO	RGD:61862	D	RGD:9068941	20200609	RGD			PMID:25457025|REF_RGD_ID:13792697
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1824	status epilepticus		ISO	RGD:732446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19222700
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:62154	D	RGD:9068941	20241123	RGD			PMID:7502080|REF_RGD_ID:737715
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:1909	melanoma		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:2560	morphine dependence		ISO	RGD:61862	D	RGD:9068941	20241212	RGD			PMID:37190555|REF_RGD_ID:596933068
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:732446	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624383
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:630	genetic disease		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:27352031|PMID:31300657
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:670	amphetamine abuse		ISO	RGD:61862	D	RGD:9068941	20241212	RGD			PMID:16311338|REF_RGD_ID:596933067
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9000543	Death		ISO	RGD:62154	D	RGD:9068941	20200609	RGD			PMID:7502080|REF_RGD_ID:737715
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:61862	D	RGD:9068941	20241212	RGD		associated with male; protein:decrease expression:nucleus accumbens, prefrontal cortex (rat)	PMID:30654007|REF_RGD_ID:596933070
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	IlkRGDID:620063	D	RGD:9068941	20241212	RGD			PMID:26305322|REF_RGD_ID:11080685
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:61862	D	RGD:9068941	20241205	RGD		protein:increase expression: dentate gyrus (rat)	PMID:25129673|REF_RGD_ID:405100726
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:61862	D	RGD:9068941	20241212	RGD		protein:increased expression:hippocampus (rat)	PMID:26305322|REF_RGD_ID:11080685
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9002362	Hyperkinesis		ISO	RGD:732446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18171924
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9004042	Olfaction Disorders		ISO	RGD:732446	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624383
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732446	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9005015	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES		ISO	RGD:732446	D	RGD:7240710	20201111	OMIM			
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9005015	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GRIA2-related disorder | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:31300657|PMID:32066793|PMID:34899870
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18945913
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9505	cannabis abuse		ISO	RGD:61862	D	RGD:9068941	20241219	RGD			PMID:21187978|REF_RGD_ID:596933102
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:61862	D	RGD:9068941	20241107	RGD			PMID:20555310|REF_RGD_ID:408364961
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9976	heroin dependence		ISO	RGD:61862	D	RGD:9068941	20241205	RGD		protein:decreased expression:medial prefrontal cortex (rat)	PMID:19160503|REF_RGD_ID:529195970
12100265	GRIA2	glutamate ionotropic receptor AMPA type subunit 2	gene	DOID:9976	heroin dependence		ISO	RGD:61862	D	RGD:9068941	20241212	RGD		protein:decreased expression:infralimbic area synaptosome (rat)	PMID:29134962|REF_RGD_ID:596920311
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:7240710	20200805	OMIM			
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30215773|PMID:30295827|PMID:30655312|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31456999|PMID:31655822|PMID:31738409|PMID:32581362|PMID:32860008|PMID:33216373|PMID:33591954|PMID:33980730|PMID:34859019|PMID:9543371|PMID:9660941|PMID:9915943
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition	PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12495287|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:17576681|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23932794|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25741905|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:2656023|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30212551|PMID:30215773|PMID:30295827|PMID:30594156|PMID:30655312|PMID:30721404|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31328266|PMID:31456999|PMID:31587616|PMID:31655822|PMID:31738409|PMID:31788464|PMID:31937884|PMID:32581362|PMID:32604935|PMID:32860008|PMID:33216373|PMID:33591954|PMID:33893808|PMID:33980730|PMID:34247820|PMID:34859019|PMID:34900253|PMID:9536098|PMID:9543371|PMID:9660941|PMID:9915943
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital nephrotic syndrome 1 | ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: Idiopathic nephrotic syndrome | ClinVar Annotator: match by term: NPHS1-related condition	PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12495287|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:17576681|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23932794|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:2656023|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30212551|PMID:30215773|PMID:30295827|PMID:30594156|PMID:30655312|PMID:30721404|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31328266|PMID:31456999|PMID:31587616|PMID:31655822|PMID:31738409|PMID:31788464|PMID:31937884|PMID:32581362|PMID:32604935|PMID:32860008|PMID:33216373|PMID:33591954|PMID:33893808|PMID:33980730|PMID:34247820|PMID:34859019|PMID:34900253|PMID:35755072|PMID:9536098|PMID:9543371|PMID:9660941|PMID:9915943
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 1 | ClinVar Annotator: match by term: NPHS1-related condition	PMID:10577936|PMID:10652016|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12324903|PMID:12495287|PMID:12631336|PMID:12707396|PMID:14570703|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:17576681|PMID:18436095|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22653594|PMID:22732337|PMID:22995991|PMID:23349334|PMID:23595123|PMID:23932794|PMID:23949594|PMID:24130771|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24392227|PMID:24397250|PMID:24472419|PMID:24498843|PMID:24671123|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26467025|PMID:2656023|PMID:26560236|PMID:26668027|PMID:26764160|PMID:26990548|PMID:27019444|PMID:27312921|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29869118|PMID:30013592|PMID:30212551|PMID:30215773|PMID:30295827|PMID:30406062|PMID:30594156|PMID:30655312|PMID:30721404|PMID:30863911|PMID:30963316|PMID:31216994|PMID:31308072|PMID:31328266|PMID:31443662|PMID:31456999|PMID:31587616|PMID:31598951|PMID:31655822|PMID:31738409|PMID:31788464|PMID:31937884|PMID:3257825|PMID:32581362|PMID:32604935|PMID:32860008|PMID:33089377|PMID:33216373|PMID:33591954|PMID:33893808|PMID:33980730|PMID:34247820|PMID:34426522|PMID:34859019|PMID:34900253|PMID:35064937|PMID:35102923|PMID:35711925|PMID:35755072|PMID:35990031|PMID:36158155|PMID:36847718|PMID:37204080|PMID:37270787|PMID:39825153|PMID:9536098|PMID:9543371|PMID:9660941|PMID:9915943
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 1 | ClinVar Annotator: match by term: NPHS1-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 1	PMID:10577936|PMID:10820162|PMID:10972661|PMID:11317351|PMID:11562357|PMID:11726550|PMID:11854170|PMID:12039988|PMID:12495287|PMID:12631336|PMID:12707396|PMID:15086927|PMID:15213260|PMID:15338398|PMID:15496146|PMID:15780077|PMID:15906409|PMID:15968559|PMID:16199547|PMID:16316524|PMID:16518627|PMID:16703378|PMID:17211152|PMID:17290294|PMID:17371932|PMID:17413422|PMID:17576681|PMID:18443213|PMID:18503012|PMID:18614772|PMID:18709391|PMID:19194555|PMID:19321760|PMID:19406966|PMID:19423745|PMID:19443487|PMID:19808243|PMID:19812541|PMID:20172850|PMID:20507940|PMID:20798252|PMID:20852892|PMID:20981092|PMID:21125408|PMID:21228398|PMID:21415313|PMID:21672106|PMID:22009864|PMID:22099579|PMID:22565185|PMID:22584503|PMID:22653594|PMID:22732337|PMID:23349334|PMID:23595123|PMID:23932794|PMID:2394959|PMID:23949594|PMID:24142548|PMID:24303155|PMID:24371179|PMID:24392227|PMID:24397250|PMID:24498843|PMID:24682440|PMID:24742477|PMID:24902943|PMID:24948143|PMID:25349199|PMID:25407002|PMID:25501161|PMID:25525159|PMID:25533962|PMID:25720465|PMID:25729976|PMID:25741868|PMID:25804400|PMID:25903641|PMID:26248470|PMID:26346198|PMID:26400569|PMID:26467025|PMID:2656023|PMID:26560236|PMID:26668027|PMID:26990548|PMID:27019444|PMID:27325253|PMID:27535533|PMID:27594755|PMID:27882743|PMID:27884173|PMID:28012006|PMID:28117080|PMID:28160156|PMID:28204945|PMID:28392951|PMID:28476686|PMID:28492532|PMID:28780565|PMID:28844315|PMID:28921387|PMID:29127259|PMID:29474669|PMID:29676031|PMID:29801666|PMID:29869118|PMID:30013592|PMID:30212551|PMID:30215773|PMID:30295827|PMID:30406062|PMID:30594156|PMID:30655312|PMID:30721404|PMID:30863911|PMID:30963316|PMID:31152064|PMID:31216994|PMID:31308072|PMID:31328266|PMID:31443662|PMID:31456999|PMID:31587616|PMID:31589614|PMID:31598951|PMID:31655822|PMID:31788464|PMID:31937884|PMID:32581362|PMID:32604935|PMID:32694662|PMID:33089377|PMID:33368894|PMID:33587123|PMID:33591954|PMID:33893808|PMID:33980730|PMID:34247820|PMID:34396835|PMID:34426522|PMID:34758253|PMID:34859019|PMID:35064937|PMID:35102923|PMID:35278126|PMID:35497790|PMID:35755072|PMID:35990031|PMID:36245711|PMID:36459247|PMID:36685964|PMID:37204080|PMID:37270787|PMID:37372416|PMID:38278869|PMID:38322629|PMID:40115459|PMID:9536098|PMID:9660941|PMID:9915943
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:36947808	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:11317351|PMID:11854170|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:10966	lipoid nephrosis		ISO	RGD:36947808	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:18256598
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:36947808	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:28921387|PMID:29127259|PMID:30655312
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:12215	oligohydramnios		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:10577936|PMID:11317351|PMID:11854170|PMID:12039988|PMID:16518627|PMID:25741868|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:36947808	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:11317351|PMID:11854170|PMID:17211152|PMID:17371932|PMID:18443213|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532|PMID:28780565
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:1909	melanoma		ISO	RGD:36947808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:2590	familial nephrotic syndrome		ISO	RGD:36947808	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Familial nephrotic syndrome	PMID:11317351|PMID:11854170|PMID:12495287|PMID:15086927|PMID:15968559|PMID:17371932|PMID:18443213|PMID:19321760|PMID:19808243|PMID:19812541|PMID:20507940|PMID:20981092|PMID:21228398|PMID:22565185|PMID:23349334|PMID:23595123|PMID:24371179|PMID:25741868|PMID:25804400|PMID:26147534|PMID:26248470|PMID:26346198|PMID:26467025|PMID:26560236|PMID:27019444|PMID:27535533|PMID:27884173|PMID:28492532|PMID:28724397|PMID:32581362
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:2921	glomerulonephritis		ISO	RGD:36947808	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:10577936|PMID:11317351|PMID:11854170|PMID:12039988|PMID:16518627|PMID:25741868|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:5041	esophageal cancer		ISO	RGD:36947808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:557	kidney disease		ISO	RGD:36947808	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12012391|PMID:16382022
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:576	proteinuria		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proteinuria | ClinVar Annotator: match by term: proteinuria	PMID:10577936|PMID:11317351|PMID:11854170|PMID:12039988|PMID:16518627|PMID:25741868|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:630	genetic disease		ISO	RGD:36947808	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30594156
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:9000197	Edema		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Edema	PMID:10577936|PMID:11317351|PMID:11854170|PMID:12039988|PMID:16518627|PMID:25741868|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:9001542	Albuminuria		ISO	RGD:36947808	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:15684566
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:36947808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10577936|PMID:11317351|PMID:11854170|PMID:12039988|PMID:16518627|PMID:25741868|PMID:28492532
12100285	NPHS1	NPHS1 adhesion molecule, nephrin	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:36947808	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	PMID:20116427
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1313900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100322	ARMH3	armadillo like helical domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100361	TMEM26	transmembrane protein 26	gene	DOID:4362	cervical cancer		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100361	TMEM26	transmembrane protein 26	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100361	TMEM26	transmembrane protein 26	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP,haplotype:exon:rs1800497(human)	PMID:23443985|REF_RGD_ID:401959307
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:polymorphism:exon:	PMID:28574012|REF_RGD_ID:401959222
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:haplotype: :multiple	PMID:25273375|REF_RGD_ID:401959295
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	onset	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP,haplotype: :rs11604671, rs4938015 (human)	PMID:21936764|REF_RGD_ID:401959296
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP:exon:rs2734849(human)	PMID:18354387|REF_RGD_ID:401959232
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:polymorphism:exon:	PMID:28574012|REF_RGD_ID:401959222
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240120	RGD		DNA:SNP, haplotype:exon:rs1800497(human)	PMID:22382052|REF_RGD_ID:401959315
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		DNA:SNPs,haplotype:introns,exons:multiple	PMID:17085484|REF_RGD_ID:401959319
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		associated with depressive disorder;DNA:SNP:exon:rs1800497(human)	PMID:21540761|REF_RGD_ID:401959399
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0060131	alexithymia		ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		associated with Binge Drinking;DNA:SNP:exon:rs1800497(human)	PMID:22728571|REF_RGD_ID:401959322
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:0080832	mild cognitive impairment	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		associated with pathological gambling; DNA:SNP:exon:rs1800497(human)	PMID:25237117|REF_RGD_ID:401959397
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:11206	opioid abuse	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		associated with phlegm syndrome;DNA:polymorphism:exon:	PMID:26138154|REF_RGD_ID:11065747
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:737102	D	RGD:9068941	20240113	RGD		DNA:polymorphism: :rs1800497(human)	PMID:32889058|REF_RGD_ID:401940151
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:1574	alcohol use disorder	severity	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP,haplotype: :rs11604671, rs4938015 (human)	PMID:21936764|REF_RGD_ID:401959296
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:251	alcohol-induced mental disorder		ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		DNA:SNP:exon:rs1800497(human)	PMID:18669994|REF_RGD_ID:401959336
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP,haplotype:exon:rs1800497(human)	PMID:19373123|REF_RGD_ID:401959309
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313623	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		DNA:SNPs,haplotype::rs11604671, rs2734849,rs1800497(human)	PMID:23691092|REF_RGD_ID:401959324
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313623	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:93	language disorder		ISO	RGD:1313623	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23691092
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9974	drug dependence		ISO	RGD:1313623	D	RGD:9068941	20240125	RGD		associated with alcohol dependence;DNA:haplotype:exons:	PMID:18828801|REF_RGD_ID:401959320
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:1313623	D	RGD:9068941	20240113	RGD		DNA:SNP: :rs1800497(human)	PMID:23635803|REF_RGD_ID:401959203
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence		ISO	RGD:1313623	D	RGD:9068941	20240113	RGD		DNA:SNPs, haplotypes:intron, 3'flanking:rs11214598, rs2859545(human)	PMID:29550268|REF_RGD_ID:401959205
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	onset	ISO	RGD:1313623	D	RGD:9068941	20240113	RGD		DNA:SNPS:exon:rs17115439, rs7118900, rs1800497 (human)	PMID:28854834|REF_RGD_ID:401959202
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNP:exon:rs1800497(human)	PMID:23840506|REF_RGD_ID:401959223
12100371	ANKK1	ankyrin repeat and kinase domain containing 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1313623	D	RGD:9068941	20240118	RGD		DNA:SNPs:5'UTR,exon:rs877138, rs4938013(human)	PMID:23303482|REF_RGD_ID:401959304
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:10534	stomach cancer		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:1682	congenital heart disease		ISO	RGD:1317758	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:3070	high grade glioma		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:3275	thymoma		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100383	USP43	ubiquitin specific peptidase 43	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:1115	sarcoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:3275	thymoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:6039	uveal melanoma		ISO	RGD:1314909	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100401	TVP23B	trans-golgi network vesicle protein 23 homolog B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100435	CLDN9	claudin 9	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:25741868
12100435	CLDN9	claudin 9	gene	DOID:0060744	Pendred syndrome		ISO	RGD:1319096	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Pendred syndrome	PMID:30311386|PMID:35802133|PMID:36633841
12100435	CLDN9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:7240710	20201202	OMIM			
12100435	CLDN9	claudin 9	gene	DOID:0112162	autosomal recessive nonsyndromic deafness 116		ISO	RGD:1319096	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CLDN9-related condition | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 116	PMID:25741868|PMID:31175426
12100435	CLDN9	claudin 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319096	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12100435	CLDN9	claudin 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1319096	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1349680	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100441	RUSC1	RUN and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:0112129	severe congenital neutropenia 7		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	PMID:25741868
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:10534	stomach cancer		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:1324	lung cancer		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:3275	thymoma		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:4362	cervical cancer		ISO	RGD:736672	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:5041	esophageal cancer		ISO	RGD:736672	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100455	PIP4K2B	phosphatidylinositol-5-phosphate 4-kinase type 2 beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100472	MYO1A	myosin IA	gene	DOID:0060774	congenital diarrhea		ISO	RGD:1345169	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diarrhea	PMID:25741868
12100472	MYO1A	myosin IA	gene	DOID:0110571	autosomal dominant nonsyndromic deafness 48		ISO	RGD:1345169	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12100472	MYO1A	myosin IA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345169	D	RGD:9068941	20200609	RGD		DFNA48, OMIM:607841	PMID:12736868|REF_RGD_ID:1600218
12100472	MYO1A	myosin IA	gene	DOID:10283	prostate cancer		ISO	RGD:1345169	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12100472	MYO1A	myosin IA	gene	DOID:10283	prostate cancer		ISO	RGD:1345169	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12100472	MYO1A	myosin IA	gene	DOID:10534	stomach cancer		ISO	RGD:1345169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100472	MYO1A	myosin IA	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12100472	MYO1A	myosin IA	gene	DOID:3275	thymoma		ISO	RGD:1345169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100472	MYO1A	myosin IA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100472	MYO1A	myosin IA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100472	MYO1A	myosin IA	gene	DOID:9009331	congenital diarrhea 15		ISO	RGD:1345169	D	RGD:7240710	20250423	OMIM			
12100472	MYO1A	myosin IA	gene	DOID:9009331	congenital diarrhea 15		ISO	RGD:1345169	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYO1A-related disorder	PMID:12736868|PMID:24033266
12100472	MYO1A	myosin IA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:1909	melanoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1320007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1320007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27783944
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100483	ETV5	ETS variant transcription factor 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1320007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:0112268	nephrotic syndrome type 22		ISO	RGD:732118	D	RGD:7240710	20210203	OMIM			
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:0112268	nephrotic syndrome type 22		ISO	RGD:732118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 22 | ClinVar Annotator: match by term: NOS1AP-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, type 22	PMID:25741868|PMID:28492532
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:10534	stomach cancer		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620106	D	RGD:9068941	20210115	RGD		mRNA:increased expression:sciatic nerve	PMID:17768032|REF_RGD_ID:7327169
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:620106	D	RGD:9068941	20210115	RGD			PMID:19587612|REF_RGD_ID:7327168
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:2843	long QT syndrome		ISO	RGD:732118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:732118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:6000	congestive heart failure		ISO	RGD:620106	D	RGD:9068941	20210115	RGD		mRNA:increased expression:brain	PMID:21831995|REF_RGD_ID:7327163
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:25741868|PMID:28492532
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:9001627	Pathologic Constriction		ISO	RGD:620106	D	RGD:9068941	20210115	RGD		mRNA, protein:increased expression, alternative form:sciatic nerve	PMID:20202870|REF_RGD_ID:5131967
12100501	NOS1AP	nitric oxide synthase 1 adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100518	APOBEC3Z1	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351728	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258849
12100518	APOBEC3Z1	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1351728	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12100518	APOBEC3Z1	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1351728	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258849
12100518	APOBEC3Z1	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3Z1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1351728	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:24728294
12100522	C5H1orf141	chromosome 5 C1orf141 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100522	C5H1orf141	chromosome 5 C1orf141 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100522	C5H1orf141	chromosome 5 C1orf141 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606070	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:10534	stomach cancer		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:1324	lung cancer		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:3275	thymoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:4362	cervical cancer		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100535	ARL4A	ADP ribosylation factor like GTPase 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1312315	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: syndromic intellectual disability	PMID:25741868|PMID:28492532
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:0060260	ptosis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1312315	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe hydrocephalus	PMID:25741868
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312315	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24121791
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1312315	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:255	hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glabellar hemangioma	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:2725	capillary hemangioma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary hemangioma	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1312315	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003591	Telecanthus		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:7240710	20190315	OMIM			
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003728	Shashi-Pena Syndrome		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ASXL2-related condition | ClinVar Annotator: match by term: SHASHI-PENA SYNDROME | ClinVar Annotator: match by term: Shashi-Pena syndrome	PMID:25741868|PMID:27693232|PMID:28492532|PMID:28516957|PMID:30251205|PMID:35101336
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1312315	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:27693232
12100546	ASXL2	ASXL transcriptional regulator 2	gene	DOID:9970	obesity		ISO	RGD:1312315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:27693232
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:25741868|PMID:28492532
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:7240710	20180130	OMIM			
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome	PMID:16199547|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26467025|PMID:27276561|PMID:27895058|PMID:28492532|PMID:29681105|PMID:30147881
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ASXL1-related condition | ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes	PMID:16199547|PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22237106|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26364555|PMID:26467025|PMID:27034984|PMID:27069254|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:31969346|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:21576631|REF_RGD_ID:11038707
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD			PMID:24045501|REF_RGD_ID:11038769
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0060249	scoliosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0060260	ptosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1344611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative		ISO	RGD:1344611	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Atypical chronic myeloid leukemia, BCR-ABL1 negative	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0080188	chronic myelomonocytic leukemia	disease_progression	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutations:exon:	PMID:20880116|REF_RGD_ID:11038767
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0081254	posterior fossa group A ependymoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa group A ependymoma	PMID:27993330|PMID:34570300|PMID:35587280
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:16412590|PMID:25131622|PMID:26364555
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:10907	microcephaly		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16412590|PMID:25131622|PMID:25741868|PMID:26364555|PMID:28492532
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16412590
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27214377|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30013160|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16412590|PMID:25741868|PMID:28492532
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1344611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1557697	D	RGD:9068941	20240425	MouseDO			
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:255	hemangioma		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:3275	thymoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:420	hypertrichosis		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:4797	SM-AHNMD	disease_progression	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:24465546|REF_RGD_ID:11038711
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:4971	myelofibrosis		ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutation,deletion:exon:2475dupA, 2846_2847del (human)	PMID:21712540|REF_RGD_ID:11038705
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:4971	myelofibrosis	disease_progression	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:23619563|REF_RGD_ID:11038768
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1344611	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24728327|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28229513|PMID:28492532|PMID:30806792|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16412590|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26364555|PMID:27069254|PMID:27276561|PMID:27895058|PMID:28229513|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic Myeloid Leukemia	PMID:36068610
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1344611	D	RGD:9068941	20210409	RGD		associated with colorectal cancer	PMID:32317519|REF_RGD_ID:126779580
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16412590|PMID:25131622|PMID:26364555
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1344611	D	RGD:7240710	20180130	OMIM			
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9001582	Bohring Syndrome		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BOHRING-OPITZ SYNDROME | ClinVar Annotator: match by term: Bohring syndrome | ClinVar Annotator: match by term: Bohring-Opitz syndrome | ClinVar Annotator: match by term: C-like syndrome | ClinVar Annotator: match by term: OPITZ TRIGONOCEPHALY-LIKE SYNDROME | ClinVar Annotator: match by term: Opitz trigonocephaly-like syndrome	PMID:16412590|PMID:18414213|PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24033266|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:24710217|PMID:25106414|PMID:25131622|PMID:25596267|PMID:25652455|PMID:25741868|PMID:25921057|PMID:26095772|PMID:26364555|PMID:26467025|PMID:26633542|PMID:27034984|PMID:27069254|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:31785789|PMID:31969346|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921|PMID:39141113
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:20880116|PMID:21576631|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:27276561|PMID:27895058|PMID:28492532|PMID:30013160|PMID:31969346|PMID:32581362
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344611	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:16412590|PMID:25131622|PMID:25741868|PMID:26364555
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1344611	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1344611	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1344611	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ependymoma	PMID:20880116|PMID:21576631|PMID:21706002|PMID:21881046|PMID:22031865|PMID:22058207|PMID:22419483|PMID:22489043|PMID:23018865|PMID:23619563|PMID:23690417|PMID:24216483|PMID:24255920|PMID:24442206|PMID:24458439|PMID:24496303|PMID:24695057|PMID:25596267|PMID:25652455|PMID:25741868|PMID:26095772|PMID:26467025|PMID:27034984|PMID:27276561|PMID:27895058|PMID:27993330|PMID:28453743|PMID:28492532|PMID:28966033|PMID:29681105|PMID:30147881|PMID:32680567|PMID:34257334|PMID:34570300|PMID:35101336|PMID:35361921
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9005985	Rubinstein Taybi like Syndrome		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rubinstein Taybi like syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-like	PMID:16412590
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:16412590|PMID:25131622|PMID:26364555
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1344611	D	RGD:9068941	20200609	RGD		DNA:mutations:exon:	PMID:20693432|REF_RGD_ID:11038706
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:930	orbital disease		ISO	RGD:1344611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16412590|PMID:21706002|PMID:25741868|PMID:26364555|PMID:28492532|PMID:31969346
12100569	ASXL1	ASXL transcriptional regulator 1	gene	DOID:936	brain disease		ISO	RGD:1344611	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:16412590
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0060260	ptosis		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1322656	D	RGD:7240710	20180130	OMIM			
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070070	autosomal dominant intellectual developmental disorder 40		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAMP1-related condition | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 40 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED LANGUAGE, AND DYSMORPHIC FEATURES	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580|PMID:28492532|PMID:36797464|PMID:38177409
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1322656	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: T-cell lymphoma	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322656	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability with severe speech impairment	PMID:23020937|PMID:24781758|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disability with severe speech impairment	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10604	lactose intolerance		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10754	otitis media		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:10907	microcephaly		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1143	exotropia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:11782	astigmatism		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:11836	clubfoot		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1205	allergic disease		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12270	coloboma		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:13250	diarrhea		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1555	urticaria		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1826	epilepsy		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:255	hemangioma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2712	phimosis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:2841	asthma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322656	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:535	sleep disorder		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:540	strabismus		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:552	pneumonia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pneumonia	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:630	genetic disease		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9000052	Breech Presentation		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breech presentation	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9000495	Tremor		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9001581	Constipation		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741869
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9002707	Hallux Varus		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux varus	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322656	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23020937|PMID:24781758|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9004992	Apnea		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23020937|PMID:25741868|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9008189	Pyelectasis		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:23020937|PMID:26340335|PMID:26751395|PMID:27148580
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9834	hyperopia		ISO	RGD:1322656	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12100590	CHAMP1	chromosome alignment maintaining phosphoprotein 1	gene	DOID:9970	obesity		ISO	RGD:1322656	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12100597	ZNF853	zinc finger protein 853	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100597	ZNF853	zinc finger protein 853	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100597	ZNF853	zinc finger protein 853	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100604	NME5	NME/NM23 family member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100604	NME5	NME/NM23 family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100604	NME5	NME/NM23 family member 5	gene	DOID:0060058	lymphoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12100604	NME5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:7240710	20220921	OMIM			
12100604	NME5	NME/NM23 family member 5	gene	DOID:0070761	primary ciliary dyskinesia 48		ISO	RGD:1343010	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 48, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus	PMID:25741868
12100604	NME5	NME/NM23 family member 5	gene	DOID:10908	hydrocephalus		ISO	RGD:1623132	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
12100604	NME5	NME/NM23 family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100604	NME5	NME/NM23 family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100604	NME5	NME/NM23 family member 5	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1343010	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12100684	LRATD2	LRAT domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0050475	Weill-Marchesani syndrome		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesodermal dysmorphodystrophy congenital | ClinVar Annotator: match by term: Weill-Marchesani syndrome	PMID:17576681|PMID:19656777|PMID:23218701|PMID:23378721|PMID:23401661|PMID:25741868|PMID:26425313|PMID:27293371|PMID:28492532|PMID:9536098
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0050581	brachydactyly		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0060249	scoliosis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0060305	megalocornea		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		associated with glaucoma;DNA:missense mutation:CDS:p.C1438Y (human)	PMID:22025892|REF_RGD_ID:156451371
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0061273	Weill-Marchesani syndrome 1		ISO	RGD:68549	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani syndrome 1	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0061275	Weill-Marchesani syndrome 3		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:0061275	Weill-Marchesani syndrome 3		ISO	RGD:68549	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Weill-Marchesani syndrome 3	PMID:17576681|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:68549	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Primary open angle glaucoma	PMID:23401661|PMID:25741868|PMID:26425313|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:11211	buphthalmos		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital glaucoma | ClinVar Annotator: match by term: Glaucoma, congenital	PMID:19361779|PMID:19656777|PMID:22025892|PMID:24033266|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:11830	myopia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:12930	dilated cardiomyopathy	treatment	ISO	RGD:68380	D	RGD:9068941	20230309	RGD			PMID:31512380|REF_RGD_ID:156431214
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:13641	exfoliation syndrome		ISO	RGD:68549	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pseudoexfoliation glaucoma	PMID:23401661|PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:14199	posterior dislocation of lens		ISO	RGD:68550	D	RGD:9068941	20230309	RGD			PMID:24908666|REF_RGD_ID:156451375
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:19361779|PMID:19656777|PMID:22025892|PMID:22539340|PMID:28492532|PMID:36087940
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1596	depressive disorder		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1686	glaucoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:6000	congestive heart failure		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		associated with dyspnea;protein:increased expression:plasma (human)	PMID:22587491|REF_RGD_ID:156451376
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:6000	congestive heart failure		ISO	RGD:68549	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (human)	PMID:32478206|REF_RGD_ID:213230162
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:68549	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9000669	Ventricular Dysfunction, Right		ISO	RGD:68380	D	RGD:9068941	20230309	RGD		associated with Pulmonary Arterial Hypertension;mRNA:increased expression:heart right ventricle (rat)	PMID:30213070|REF_RGD_ID:156451373
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9001251	Microspherophakia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microspherophakia	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9001733	Tinnitus		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:68550	D	RGD:9068941	20230309	RGD		mRNA:increased expression:heart (mouse)	PMID:29950403|REF_RGD_ID:156451654
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003580	Primary Congenital Glaucoma 3, D		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003580	Primary Congenital Glaucoma 3, D		ISO	RGD:68549	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 3, PRIMARY CONGENITAL, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, D | ClinVar Annotator: match by term: Glaucoma 3, primary congenital, d	PMID:10655546|PMID:17576681|PMID:19361779|PMID:19656777|PMID:21081970|PMID:22025892|PMID:23218701|PMID:25741868|PMID:27293371|PMID:27409795|PMID:28492532|PMID:9536098
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:68550	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (mouse)	PMID:29510080|REF_RGD_ID:213230163
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:68550	D	RGD:9068941	20230309	RGD			PMID:33039488|REF_RGD_ID:156431213
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9006438	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma		ISO	RGD:68549	D	RGD:7240710	20180130	OMIM			
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9006438	Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma		ISO	RGD:68549	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA | ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	PMID:16199547|PMID:17576681|PMID:19361779|PMID:19656777|PMID:22025892|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:68549	D	RGD:9068941	20230309	RGD		mRNA:increased expression:myocardium (human)	PMID:17343875|REF_RGD_ID:156451374
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9007147	Glaucoma 3, Primary Infantile, B		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma 3, primary infantile, B | ClinVar Annotator: match by term: Primary congenital glaucoma type 3B	PMID:17576681|PMID:25741868|PMID:27409795|PMID:28492532|PMID:9536098
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:68550	D	RGD:9068941	20230323	RGD		mRNA:increased expression:heart (mouse)	PMID:31364721|REF_RGD_ID:213230159
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9007736	Vertigo		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9008421	Epistaxis		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12100716	LTBP2	latent transforming growth factor beta binding protein 2	gene	DOID:9834	hyperopia		ISO	RGD:68549	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1347800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991579
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1347800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991579
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12100756	SYCP1	synaptonemal complex protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100800	C12H6orf47	chromosome 12 C6orf47 homolog	gene	DOID:0112342	hereditary spastic paraplegia 86		ISO	RGD:1354435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 86, autosomal recessive	PMID:25741868
12100816	RLN2	relaxin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348053	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16434975
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:22199269|REF_RGD_ID:9586031
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:3275	thymoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:esophagus (human)	PMID:19525977|REF_RGD_ID:9590307
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314209	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (human)	PMID:23643089|REF_RGD_ID:9590314
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1314209	D	RGD:9068941	20230105	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:36104638|REF_RGD_ID:155791669
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:9000528	Coronary Disease	severity	ISO	RGD:1314209	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-2481G>C (human)	PMID:21062767|REF_RGD_ID:9590309
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100848	KAT2B	lysine acetyltransferase 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:7240710	20180130	OMIM			
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:0090003	agenesis of the corpus callosum with peripheral neuropathy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY | ClinVar Annotator: match by term: Agenesis of the corpus callosum with peripheral neuropathy | ClinVar Annotator: match by term: Andermann Syndrome | ClinVar Annotator: match by term: Andermann syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum	PMID:12368912|PMID:12838516|PMID:16199547|PMID:1660691|PMID:16606917|PMID:17576681|PMID:17893295|PMID:18414213|PMID:21628467|PMID:23593405|PMID:25741868|PMID:26392352|PMID:27717089|PMID:28492532|PMID:30038111|PMID:31439721|PMID:32709422|PMID:34706912|PMID:37575640|PMID:9536098
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:1059	intellectual disability		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:16606917|PMID:20020398|PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:1115	sarcoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:1324	lung cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:1909	melanoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1322735	D	RGD:9068941	20220825	MouseDO			
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:2841	asthma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:3070	high grade glioma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:3275	thymoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:480	movement disease		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1322734	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1322734	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:630	genetic disease		ISO	RGD:1322734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16606917|PMID:19665974|PMID:24043619|PMID:25741868|PMID:28492532|PMID:28814402|PMID:31439721|PMID:33199848|PMID:33323309
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:767	muscular atrophy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:870	neuropathy		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive axonal hereditary motor and sensory neuropathy | ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9000899	Charcot-Marie-Tooth Disease Axonal Type 2II		ISO	RGD:1322734	D	RGD:7240710	20221012	OMIM			
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9000899	Charcot-Marie-Tooth Disease Axonal Type 2II		ISO	RGD:1322734	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2II | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2II | ClinVar Annotator: match by term: SLC12A6-related condition	PMID:12368912|PMID:16606917|PMID:18566107|PMID:21628467|PMID:25741868|PMID:28492532|PMID:31439721|PMID:33323309|PMID:34611884
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:12368912|PMID:16606917|PMID:25741868|PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12100875	SLC12A6	solute carrier family 12 member 6	gene	DOID:9834	hyperopia		ISO	RGD:1322734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1347069	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12100914	C35H6orf62	chromosome 35 C6orf62 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0050117	disease by infectious agent		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0050567	orofacial cleft		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731482	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0060260	ptosis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:731482	D	RGD:7240710	20190315	OMIM			
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:731482	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 54	PMID:16199547|PMID:17576681|PMID:22678713|PMID:23708187|PMID:23934111|PMID:25356899|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28283832|PMID:28492532|PMID:28815871|PMID:28944577|PMID:29170628|PMID:29758562|PMID:30866059|PMID:32319732|PMID:32488064|PMID:33874999|PMID:34012379|PMID:35138025|PMID:35571021|PMID:36413997|PMID:9536098
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:731482	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:0080855	Parkinsonism		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:10534	stomach cancer		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1059	intellectual disability		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25326635|PMID:25741868|PMID:28815871
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1059	intellectual disability		ISO	RGD:731482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28815871
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1115	sarcoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:11155	hypohidrosis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:11162	respiratory failure		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:11830	myopia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:12270	coloboma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1247	blood coagulation disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:12849	autistic disorder		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1596	depressive disorder		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1824	status epilepticus		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1826	epilepsy		ISO	RGD:731482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1827	generalized epilepsy		ISO	RGD:731482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532|PMID:28815871
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1891	optic nerve disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1909	melanoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:1969	cerebral palsy		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:2030	anxiety disorder		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:2394	ovarian cancer		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:2468	psychotic disorder		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:2841	asthma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:3070	high grade glioma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:3144	cutis laxa		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:3312	bipolar disorder		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:4362	cervical cancer		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:480	movement disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:5041	esophageal cancer		ISO	RGD:731482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:5419	schizophrenia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:6039	uveal melanoma		ISO	RGD:731482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:630	genetic disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:26845106|PMID:268451506|PMID:28393272|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:6364	migraine		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9001031	Retrognathia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9001510	Funnel Chest		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9001733	Tinnitus		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9003126	Hallucinations		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9003539	Hyperacusis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731482	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9004538	Hearing Loss		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9005077	Joint Instability		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731482	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Myoclonic absence seizure	PMID:25741868|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9005968	Neuralgia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuralgia	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9007661	Dwarfism		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9007736	Vertigo		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9008023	Memory Disorders		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22678713|PMID:25741868|PMID:28283832|PMID:28492532
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9008421	Epistaxis		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9256	colorectal cancer		ISO	RGD:731482	D	RGD:9068941	20200609	RGD		protein:decreased expression:colonic epithelium, nucleus (human)	PMID:21194727|REF_RGD_ID:9999439
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:936	brain disease		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9834	hyperopia		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12100926	HNRNPU	heterogeneous nuclear ribonucleoprotein U	gene	DOID:9970	obesity		ISO	RGD:731482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:10534	stomach cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:1115	sarcoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:1909	melanoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:3275	thymoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:4362	cervical cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12100948	SLC35B4	solute carrier family 35 member B4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1552230	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0060321	umbilical hernia		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0080006	bone development disease		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:0111546	Currarino syndrome		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:10488	imperforate anus		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:10534	stomach cancer		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomach cancer	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:1115	sarcoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:11446	sciatic neuropathy		ISO	RGD:620326	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:nerve:	PMID:9729404|REF_RGD_ID:11556234
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:1324	lung cancer		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:13938	amenorrhea		ISO	RGD:732125	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:14679	VACTERL association		ISO	RGD:1552230	D	RGD:9068941	20200609	RGD		DNA:mutation:exon:p.C470R(mouse)	PMID:18519639|REF_RGD_ID:11556208
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:14679	VACTERL association		ISO	RGD:1552230	D	RGD:9068941	20220825	MouseDO		OMIM:192350 | OMIM:276950	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:14679	VACTERL association		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:1681	heart septal defect		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:3275	thymoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:4362	cervical cancer		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:5041	esophageal cancer		ISO	RGD:732125	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:557	kidney disease		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:850	lung disease		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9000066	Jaw Abnormalities		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9001018	Mouth Abnormalities		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:1552230	D	RGD:9068941	20200609	RGD		protein:decreased expression:somite	PMID:21480163|REF_RGD_ID:11556204
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:620326	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:artery:	PMID:12649739|REF_RGD_ID:11556213
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9006778	Carotid Atherosclerosis		ISO	RGD:732125	D	RGD:9068941	20200609	RGD		protein:increased expression:myofibroblast:	PMID:14970114|REF_RGD_ID:11556214
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9007794	Lower Extremity Deformities, Congenital		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9008498	Tracheoesophageal Fistula		ISO	RGD:732125	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18519639
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732125	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12100962	PCSK5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1552230	D	RGD:9068941	20220825	MouseDO			
12100962	Pcsk5	proprotein convertase subtilisin/kexin type 5	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:1552230	D	RGD:9068941	20200609	RGD			PMID:19737405|REF_RGD_ID:11556207
12101003	JAK2	Janus kinase 2	gene	DOID:0051061	stroke		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18079966|REF_RGD_ID:6483032
12101003	JAK2	Janus kinase 2	gene	DOID:0060474	familial erythrocytosis 2		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21685897|REF_RGD_ID:6483049
12101003	JAK2	Janus kinase 2	gene	DOID:0060652	familial erythrocytosis 1		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:0060903	thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F (human)	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:731748	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:22087750|PMID:29047144|PMID:35568132
12101003	JAK2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:731748	D	RGD:9068941	20250724	RGD		DNA:SNPs:introns: (rs12343867, rs10974944) (human)	PMID:23845539|REF_RGD_ID:10449376
12101003	JAK2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm	no_association	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs12342421) (human)	PMID:23845539|REF_RGD_ID:10449376
12101003	JAK2	Janus kinase 2	gene	DOID:0070004	myeloid neoplasm	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.V617F (human)	PMID:15858187|REF_RGD_ID:10449393
12101003	JAK2	Janus kinase 2	gene	DOID:0070113	Niemann-Pick disease type C1	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21176403|REF_RGD_ID:10403054
12101003	JAK2	Janus kinase 2	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:2939	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
12101003	JAK2	Janus kinase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18782535|REF_RGD_ID:6483030
12101003	JAK2	Janus kinase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
12101003	JAK2	Janus kinase 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	ameliorates	ISO	RGD:10823	D	RGD:9068941	20210702	RGD			PMID:28100771|REF_RGD_ID:127285675
12101003	JAK2	Janus kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:731748	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12101003	JAK2	Janus kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:731748	D	RGD:9068941	20210528	RGD		associated with Helicobacter Infections; protein:increased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
12101003	JAK2	Janus kinase 2	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:731748	D	RGD:9068941	20210528	RGD		DNA:SNPs:exon, promoter: (rs2230724, rs1887427) (human)	PMID:23717640|REF_RGD_ID:126925979
12101003	JAK2	Janus kinase 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:29408335|PMID:32106377|REF_RGD_ID:127284846|REF_RGD_ID:127284886
12101003	JAK2	Janus kinase 2	gene	DOID:10603	glucose intolerance	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Alzheimer Disease	PMID:23223021|REF_RGD_ID:10403052
12101003	JAK2	Janus kinase 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:18813209|REF_RGD_ID:10403051
12101003	JAK2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:10762	portal hypertension	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731748	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
12101003	JAK2	Janus kinase 2	gene	DOID:1107	esophageal carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		associated with Immune Deficiency Disease, human cells in mouse model	PMID:25724470|REF_RGD_ID:127285656
12101003	JAK2	Janus kinase 2	gene	DOID:114	heart disease	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Shock, Septic	PMID:23404057|REF_RGD_ID:8694329
12101003	JAK2	Janus kinase 2	gene	DOID:11512	Budd-Chiari syndrome		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:17823504|REF_RGD_ID:6483037
12101003	JAK2	Janus kinase 2	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:24619965|REF_RGD_ID:10403061
12101003	JAK2	Janus kinase 2	gene	DOID:1240	leukemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
12101003	JAK2	Janus kinase 2	gene	DOID:1240	leukemia		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:translocation: :	PMID:9326218|REF_RGD_ID:10450609
12101003	JAK2	Janus kinase 2	gene	DOID:13252	mesenteric vascular occlusion		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434300
12101003	JAK2	Janus kinase 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
12101003	JAK2	Janus kinase 2	gene	DOID:1577	limited scleroderma		ISO	RGD:731748	D	RGD:9068941	20200609	RGD			PMID:20808962|REF_RGD_ID:4892610
12101003	JAK2	Janus kinase 2	gene	DOID:182	calcinosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12101003	JAK2	Janus kinase 2	gene	DOID:1920	hyperuricemia	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23442673|REF_RGD_ID:10411892
12101003	JAK2	Janus kinase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:2939	D	RGD:9068941	20230615	RGD		associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)	PMID:33889291|REF_RGD_ID:329849122
12101003	JAK2	Janus kinase 2	gene	DOID:219	colon cancer	treatment	ISO	RGD:2939	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
12101003	JAK2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia		ISO	RGD:10823	D	RGD:9068941	20220825	MouseDO		OMIM:187950 | OMIM:300331 | OMIM:601977 | OMIM:614521	
12101003	JAK2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15781101|PMID:15858187|PMID:16484586|PMID:16896569|PMID:19154659|PMID:19636672|PMID:20434300|PMID:21942426
12101003	JAK2	Janus kinase 2	gene	DOID:2224	essential thrombocythemia	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.V617F (human)	PMID:23130336|REF_RGD_ID:10449178
12101003	JAK2	Janus kinase 2	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:10823	D	RGD:9068941	20220825	MouseDO			
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19287382|PMID:19287384
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.S755R, p.R938Q (human)	PMID:24398328|REF_RGD_ID:10449375
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		associated with Budd-Chiari syndrome;DNA:missense mutation:cds:p.V617F	PMID:22467227|REF_RGD_ID:15039391
12101003	JAK2	Janus kinase 2	gene	DOID:2228	thrombocytosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		essential thrombocythemia, OMIM:187950; DNA:transversion:CDS:1849G>T, amino acid V617F	PMID:15781101|REF_RGD_ID:1627655
12101003	JAK2	Janus kinase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23764464|REF_RGD_ID:8694326
12101003	JAK2	Janus kinase 2	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:731748	D	RGD:9068941	20210625	RGD		human cells in mouse model	PMID:22050790|REF_RGD_ID:127285665
12101003	JAK2	Janus kinase 2	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210409	RGD		Human cell in mouse model	PMID:32504672|REF_RGD_ID:125097526
12101003	JAK2	Janus kinase 2	gene	DOID:2355	anemia		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:9590174|REF_RGD_ID:737719
12101003	JAK2	Janus kinase 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:10823	D	RGD:9068941	20210723	RGD		associated with Carcinoma, Lewis Lung, human cells in mouse model	PMID:31250048|REF_RGD_ID:149735351
12101003	JAK2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:27788478|REF_RGD_ID:18182929
12101003	JAK2	Janus kinase 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20210702	RGD		protein:increased phosphorylation:esophagus squamous epithelium (human)	PMID:32158193|REF_RGD_ID:127285669
12101003	JAK2	Janus kinase 2	gene	DOID:3905	lung carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210723	RGD		human cells in mouse model	PMID:26397387|REF_RGD_ID:11529462
12101003	JAK2	Janus kinase 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		human cells in mouse model	PMID:21325979|PMID:25869210|REF_RGD_ID:149735332|REF_RGD_ID:149735342
12101003	JAK2	Janus kinase 2	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		human cells in mouse model	PMID:27025877|REF_RGD_ID:11574134
12101003	JAK2	Janus kinase 2	gene	DOID:4033	bacterial gastritis		ISO	RGD:731748	D	RGD:9068941	20210528	RGD		protein:increased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
12101003	JAK2	Janus kinase 2	gene	DOID:4079	heart valve disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12101003	JAK2	Janus kinase 2	gene	DOID:4971	myelofibrosis		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:4971	myelofibrosis	treatment	ISO	RGD:731748	D	RGD:9068941	20200609	RGD			PMID:22796437|REF_RGD_ID:10449377
12101003	JAK2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:26385087|REF_RGD_ID:18337263
12101003	JAK2	Janus kinase 2	gene	DOID:5327	retinal detachment		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:retina	PMID:22251399|REF_RGD_ID:10411890
12101003	JAK2	Janus kinase 2	gene	DOID:5434	scrapie		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17897356|REF_RGD_ID:6483034
12101003	JAK2	Janus kinase 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:731748	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:25741868
12101003	JAK2	Janus kinase 2	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:22749532|REF_RGD_ID:10403083
12101003	JAK2	Janus kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10823	D	RGD:9068941	20210625	RGD		associated with Diseases of the Aged and non-alcoholic fatty liver disease	PMID:31393852|REF_RGD_ID:127285655
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:10823	D	RGD:9068941	20210625	RGD		protein:increased phosphorylation:liver (mouse)	PMID:22821478|REF_RGD_ID:127285621
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:10823	D	RGD:9068941	20210702	RGD		L-JAK2 KO	PMID:28100771|REF_RGD_ID:127285675
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:731748	D	RGD:9068941	20210528	RGD		protein:increased phosphorylation:liver (human)	PMID:22392353|REF_RGD_ID:125097525
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:25420511|REF_RGD_ID:18182928
12101003	JAK2	Janus kinase 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2939	D	RGD:9068941	20210716	RGD			PMID:29486150|REF_RGD_ID:127285672
12101003	JAK2	Janus kinase 2	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:introns: (rs1536798, rs10119004, rs7857730) (human)	PMID:20627814|REF_RGD_ID:6483025
12101003	JAK2	Janus kinase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21510883|REF_RGD_ID:6483024
12101003	JAK2	Janus kinase 2	gene	DOID:8432	polycythemia		IAGP		D	RGD:12801476	20250226	OMIA		Polycythemia	PMID:13610760|PMID:9348498|PMID:9528346|PMID:21320566|PMID:17424094|PMID:39965623
12101003	JAK2	Janus kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799|PMID:21297633
12101003	JAK2	Janus kinase 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10758669 (human)	PMID:22269120|REF_RGD_ID:6483020
12101003	JAK2	Janus kinase 2	gene	DOID:8778	Crohn's disease		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10758669 (human)	PMID:22269120|REF_RGD_ID:6483020
12101003	JAK2	Janus kinase 2	gene	DOID:8997	polycythemia vera		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23274522|REF_RGD_ID:10411896
12101003	JAK2	Janus kinase 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2939	D	RGD:9068941	20220623	RGD			PMID:29572553|REF_RGD_ID:152995414
12101003	JAK2	Janus kinase 2	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
12101003	JAK2	Janus kinase 2	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:731748	D	RGD:9068941	20210611	RGD		associated with stomach cancer, human cells in mouse model	PMID:28186964|REF_RGD_ID:127229952
12101003	JAK2	Janus kinase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:21596098|REF_RGD_ID:6483023
12101003	JAK2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD		protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
12101003	JAK2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:increased expression, increased tyrosine phosphorylation:liver	PMID:24619965|REF_RGD_ID:10403061
12101003	JAK2	Janus kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12101003	JAK2	Janus kinase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
12101003	JAK2	Janus kinase 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22288937|REF_RGD_ID:10403073
12101003	JAK2	Janus kinase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22745068|REF_RGD_ID:10403082
12101003	JAK2	Janus kinase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:18636982|REF_RGD_ID:6483031
12101003	JAK2	Janus kinase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		associated with Diabetic Neuropathies	PMID:23511693|REF_RGD_ID:10403050
12101003	JAK2	Janus kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12101003	JAK2	Janus kinase 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22339472|REF_RGD_ID:10403066
12101003	JAK2	Janus kinase 2	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22800927|PMID:23711144|REF_RGD_ID:10403074|REF_RGD_ID:10403081
12101003	JAK2	Janus kinase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22066025|REF_RGD_ID:6483041
12101003	JAK2	Janus kinase 2	gene	DOID:9003121	Thromboembolism		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
12101003	JAK2	Janus kinase 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989398
12101003	JAK2	Janus kinase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27470402
12101003	JAK2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434300
12101003	JAK2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs12342421, rs12343867 (human)	PMID:23845539|REF_RGD_ID:10449376
12101003	JAK2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.V617F (human)	PMID:17059429|REF_RGD_ID:10449391
12101003	JAK2	Janus kinase 2	gene	DOID:9003871	Venous Thrombosis	no_association	ISO	RGD:731748	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10974944 (human)	PMID:23845539|REF_RGD_ID:10449376
12101003	JAK2	Janus kinase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:20440769|REF_RGD_ID:6483026
12101003	JAK2	Janus kinase 2	gene	DOID:9004276	Thrombocythemia 3		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:24228589|REF_RGD_ID:10411888
12101003	JAK2	Janus kinase 2	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636672
12101003	JAK2	Janus kinase 2	gene	DOID:9005372	Inflammation		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20943775
12101003	JAK2	Janus kinase 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic;protein:decreased expression:epiphyseal plate	PMID:23715123|REF_RGD_ID:10403065
12101003	JAK2	Janus kinase 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:151355880	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
12101003	JAK2	Janus kinase 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15746188|PMID:16214533
12101003	JAK2	Janus kinase 2	gene	DOID:9007346	Cachexia	treatment	ISO	RGD:10823	D	RGD:9068941	20210709	RGD		associated with colon adenocarcinoma	PMID:28489606|REF_RGD_ID:127285673
12101003	JAK2	Janus kinase 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:731748	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:35568132
12101003	JAK2	Janus kinase 2	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:22777122|REF_RGD_ID:10403072
12101003	JAK2	Janus kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23796350|REF_RGD_ID:8694332
12101003	JAK2	Janus kinase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23747931|REF_RGD_ID:10403071
12101003	JAK2	Janus kinase 2	gene	DOID:9007842	Sepsis-Associated Encephalopathy	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD			PMID:23236988|REF_RGD_ID:10403076
12101003	JAK2	Janus kinase 2	gene	DOID:9008104	Cancer Pain	treatment	ISO	RGD:2939	D	RGD:9068941	20210716	RGD			PMID:30027795|REF_RGD_ID:149735350
12101003	JAK2	Janus kinase 2	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute	PMID:24161994|REF_RGD_ID:8694328
12101003	JAK2	Janus kinase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:21880982|REF_RGD_ID:6483022
12101003	JAK2	Janus kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731748	D	RGD:7240710	20180130	OMIM			
12101003	JAK2	Janus kinase 2	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:731748	D	RGD:9068941	20210716	RGD		protein:increased expression:mucosa of nasopharynx (human)	PMID:30123088|REF_RGD_ID:149735327
12101003	JAK2	Janus kinase 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:10823	D	RGD:9068941	20200609	RGD			PMID:22275361|REF_RGD_ID:6483019
12101003	JAK2	Janus kinase 2	gene	DOID:9970	obesity		ISO	RGD:2939	D	RGD:9068941	20200609	RGD		protein:decreased expression:hypothalamus	PMID:23397595|REF_RGD_ID:10411893
12101003	JAK2	Janus kinase 2	gene	DOID:9970	obesity		ISO	RGD:731748	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:omental adipose tissue:by microarray	PMID:14630696|REF_RGD_ID:1627661
12101003	Jak2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:10823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver,serum (human)	PMID:27788478|REF_RGD_ID:18182929
12101003	Jak2	Janus kinase 2	gene	DOID:3571	liver cancer	severity	ISO	RGD:2939	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver,serum (human)	PMID:27788478|REF_RGD_ID:18182929
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:1115	sarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603191	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101035	CRACR2A	calcium release activated channel regulator 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:0111080	Fanconi anemia complementation group V		ISO	RGD:1316729	D	RGD:7240710	20190315	OMIM			
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:0111080	Fanconi anemia complementation group V		ISO	RGD:1316729	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group V | ClinVar Annotator: match by term: MAD2L2-related condition	PMID:25741868|PMID:27500492|PMID:28492532
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:14228	oligospermia		ISO	RGD:1316729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:1909	melanoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101076	MAD2L2	mitotic arrest deficient 2 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101090	SV2C	synaptic vesicle glycoprotein 2C	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1551020	D	RGD:9068941	20211203	RGD		protein:decreased expression:transversus abdominis muscle, axon terminus (mouse)	PMID:28173138|REF_RGD_ID:11535337
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101113	DESI2	desumoylating isopeptidase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1603047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21667029
12101128	CEP128	centrosomal protein 128	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101128	CEP128	centrosomal protein 128	gene	DOID:10534	stomach cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101128	CEP128	centrosomal protein 128	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101128	CEP128	centrosomal protein 128	gene	DOID:1324	lung cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101128	CEP128	centrosomal protein 128	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101128	CEP128	centrosomal protein 128	gene	DOID:4362	cervical cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101128	CEP128	centrosomal protein 128	gene	DOID:5041	esophageal cancer		ISO	RGD:1344060	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101128	CEP128	centrosomal protein 128	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12101128	CEP128	centrosomal protein 128	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101128	CEP128	centrosomal protein 128	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101128	CEP128	centrosomal protein 128	gene	DOID:9256	colorectal cancer		ISO	RGD:1344060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12101174	FZD2	frizzled class receptor 2	gene	DOID:0060254	Robinow syndrome		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acral dysostosis with facial and genital abnormalities | ClinVar Annotator: match by term: Robinow syndrome	PMID:29276006
12101174	FZD2	frizzled class receptor 2	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	PMID:28492532|PMID:29276006
12101174	FZD2	frizzled class receptor 2	gene	DOID:0060766	autosomal dominant Robinow syndrome 1		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 1	PMID:29276006
12101174	FZD2	frizzled class receptor 2	gene	DOID:0060767	autosomal dominant Robinow syndrome 3		ISO	RGD:732091	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 3	PMID:25741868|PMID:29276006
12101174	FZD2	frizzled class receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:732091	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12101174	FZD2	frizzled class receptor 2	gene	DOID:0080845	omodysplasia 2		ISO	RGD:732091	D	RGD:7240710	20190315	OMIM			
12101174	FZD2	frizzled class receptor 2	gene	DOID:0080845	omodysplasia 2		ISO	RGD:732091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant omodysplasia | ClinVar Annotator: match by term: FZD2-related condition | ClinVar Annotator: match by term: OMODYSPLASIA 2 | ClinVar Annotator: match by term: Omodysplasia 2	PMID:19900272|PMID:21525063|PMID:24458798|PMID:25741868|PMID:25759469|PMID:28492532|PMID:29276006|PMID:30455931|PMID:35047859|PMID:36789910|PMID:38967226
12101174	FZD2	frizzled class receptor 2	gene	DOID:127	leiomyoma		ISO	RGD:732091	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myometrium	PMID:12909487|REF_RGD_ID:2298700
12101174	FZD2	frizzled class receptor 2	gene	DOID:3459	breast carcinoma		ISO	RGD:732091	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15492823|REF_RGD_ID:2298699
12101174	FZD2	frizzled class receptor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:71012	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:9142123|REF_RGD_ID:4107058
12101174	FZD2	frizzled class receptor 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
12101174	FZD2	frizzled class receptor 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:71012	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:8762054|REF_RGD_ID:4107053
12101174	FZD2	frizzled class receptor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:732091	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730859	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:0080495	ovarian dysgenesis 3		ISO	RGD:730859	D	RGD:7240710	20180130	OMIM			
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:0080495	ovarian dysgenesis 3		ISO	RGD:730859	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 3 | ClinVar Annotator: match by term: Ovarian dysgenesis 3 | ClinVar Annotator: match by term: PSMC3IP-related condition	PMID:25741868|PMID:28492532
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:730859	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 46 XX gonadal dysgenesis	PMID:25741868
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:3275	thymoma		ISO	RGD:730859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12101181	PSMC3IP	PSMC3 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101206	NRSN2	neurensin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313267	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101206	NRSN2	neurensin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101219	TAGLN2	transgelin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101219	TAGLN2	transgelin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101219	TAGLN2	transgelin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101219	TAGLN2	transgelin 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12101219	TAGLN2	transgelin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101219	TAGLN2	transgelin 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12101219	TAGLN2	transgelin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101219	TAGLN2	transgelin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101219	TAGLN2	transgelin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12101219	TAGLN2	transgelin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12101219	TAGLN2	transgelin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321972	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12101219	TAGLN2	transgelin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:1115	sarcoma		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:1324	lung cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:4362	cervical cancer		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101228	CYB561D1	cytochrome b561 family member D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:10534	stomach cancer		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:1115	sarcoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318467	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101235	ARK2N	arkadia (RNF111) N-terminal like PKA signaling regulator 2N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101259	INTS1	integrator complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:0050581	brachydactyly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
12101259	INTS1	integrator complex subunit 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12101259	INTS1	integrator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12101259	INTS1	integrator complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:7240710	20191016	OMIM			
12101259	INTS1	integrator complex subunit 1	gene	DOID:0070346	neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTS1-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies	PMID:16199547|PMID:25741868|PMID:28492532|PMID:28542170|PMID:30622326|PMID:31428919|PMID:38177409
12101259	INTS1	integrator complex subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12101259	INTS1	integrator complex subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	
12101259	INTS1	integrator complex subunit 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12101259	INTS1	integrator complex subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:2355	anemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
12101259	INTS1	integrator complex subunit 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12101259	INTS1	integrator complex subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101259	INTS1	integrator complex subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101259	INTS1	integrator complex subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101259	INTS1	integrator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606801	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12101259	INTS1	integrator complex subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9008421	Epistaxis		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101259	INTS1	integrator complex subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12101317	DUSP28	dual specificity phosphatase 28	gene	DOID:2377	multiple sclerosis		ISO	RGD:1605823	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:22713656|REF_RGD_ID:9588601
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605411	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0060936	dystonia 28, childhood-onset		ISO	RGD:1605411	D	RGD:7240710	20190315	OMIM			
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0060936	dystonia 28, childhood-onset		ISO	RGD:1605411	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSTONIA 28, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Dystonia 28, childhood-onset | ClinVar Annotator: match by term: KMT2B-related condition | ClinVar Annotator: match by term: KMT2B-related disorder	PMID:25741868|PMID:25741878|PMID:27839873|PMID:27992417|PMID:28492532|PMID:28520167|PMID:29653907|PMID:31216378|PMID:32581362|PMID:33098801|PMID:33150406|PMID:33619735|PMID:34747823
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0061041	autosomal dominant intellectual developmental disorder 68		ISO	RGD:1605411	D	RGD:7240710	20220720	OMIM			
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0061041	autosomal dominant intellectual developmental disorder 68		ISO	RGD:1605411	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 68 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 68	PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1605411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:10283	prostate cancer		ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1059	intellectual disability		ISO	RGD:1605411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:10907	microcephaly		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:10908	hydrocephalus		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:10965	spastic diplegia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1115	sarcoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:11830	myopia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:11836	clubfoot		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:12849	autistic disorder		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: autistic behavior	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1324	lung cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:13580	cholestasis		ISO	RGD:1623920	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (mouse)	PMID:21330447|REF_RGD_ID:9588602
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1459	hypothyroidism		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1612	breast cancer	severity	ISO	RGD:1605411	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:24491801|REF_RGD_ID:9588564
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1826	epilepsy		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:1909	melanoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:543	dystonia		ISO	RGD:1605411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder | ClinVar Annotator: match by term: dystonia	PMID:25741868|PMID:32581362
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:630	genetic disease		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25405613|PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:8927	learning disability		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:32581362
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9000831	Hypokinesia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1605411	D	RGD:9068941	20211119	RGD		associated with lung adenocarcinoma	PMID:33291558|REF_RGD_ID:150429741
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9001255	Kabuki Syndrome 1		ISO	RGD:1605411	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Kabuki syndrome 1	PMID:25741868|PMID:28492532|PMID:29255178
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9001722	Dysarthria		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:32581362
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:25741868|PMID:33150406
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9002589	Bone Fractures		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605411	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder with motor features	PMID:25741868|PMID:33150406
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868|PMID:28492532
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: muscular hypotonia	PMID:25741868|PMID:27992417
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9007722	Myoclonus		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:32581362
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27839873|PMID:27992417|PMID:28492532|PMID:33150406
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9009311	Idiopathic Generalized Epilepsy 5		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 5	PMID:25741868
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1623920	D	RGD:9068941	20200609	RGD			PMID:25079327|REF_RGD_ID:9588599
12101323	KMT2B	lysine methyltransferase 2B	gene	DOID:9452	steatotic liver disease		ISO	RGD:1605411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1321815	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: NADH:Q(1) OXIDOREDUCTASE DEFICIENCY	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0112067	nuclear type mitochondrial complex I deficiency 25		ISO	RGD:1321815	D	RGD:7240710	20190315	OMIM			
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:0112067	nuclear type mitochondrial complex I deficiency 25		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 25	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:26795593|PMID:27091925|PMID:28492532|PMID:31000363
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1321815	D	RGD:9068941	20200609	RGD			PMID:28474567|REF_RGD_ID:13792588
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:1826	epilepsy		ISO	RGD:1321815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:630	genetic disease		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22277967|PMID:22499348|PMID:25741868|PMID:26467025|PMID:27091925|PMID:28492532|PMID:31000363
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9006253	Ketosis		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketoacidosis	
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101363	NDUFB3	NADH:ubiquinone oxidoreductase subunit B3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1311983	D	RGD:9068941	20200609	RGD			PMID:16863689|REF_RGD_ID:9850145
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:2377	multiple sclerosis		ISO	RGD:1323724	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron: (rs997941, rs34925346) (human)	PMID:20072140|REF_RGD_ID:6892695
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1311983	D	RGD:9068941	20200609	RGD		protein:decreased expression:CA3 field of hippocampus	PMID:25420768|REF_RGD_ID:9850144
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1311983	D	RGD:9068941	20200609	RGD			PMID:21840379|PMID:23275173|REF_RGD_ID:9850121|REF_RGD_ID:9850122
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1311983	D	RGD:9068941	20200609	RGD			PMID:16585268|REF_RGD_ID:9850138
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:9002560	Penetrating Eye Injuries		ISO	RGD:1311983	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21887516|REF_RGD_ID:9850142
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101370	RGMA	repulsive guidance molecule BMP co-receptor a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101384	HEBP2	heme binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323071	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12101384	HEBP2	heme binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1323071	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12101384	HEBP2	heme binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323071	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101384	HEBP2	heme binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101384	HEBP2	heme binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12101384	HEBP2	heme binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101384	HEBP2	heme binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12101384	HEBP2	heme binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101384	HEBP2	heme binding protein 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1323071	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25058030
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0050773	paraganglioma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:25741868|PMID:28492532
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0061222	pheochromocytoma/paraganglioma syndrome 7		ISO	RGD:1351694	D	RGD:7240710	20190710	OMIM			
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0061222	pheochromocytoma/paraganglioma syndrome 7		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DLST-related condition | ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 7	PMID:25741868|PMID:28492532|PMID:30929736|PMID:33180916
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:0081326	oxoglutarate dehydrogenase deficiency		ISO	RGD:1351694	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Oxoglutaricaciduria	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1351694	D	RGD:9068941	20200806	RGD		DNA:polymorphisms: :	PMID:10227647|REF_RGD_ID:1358587
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:25741868|PMID:28492532
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101396	DLST	dihydrolipoamide S-succinyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:10534	stomach cancer		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:3070	high grade glioma		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:4362	cervical cancer		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1349255	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12101507	MRPL19	mitochondrial ribosomal protein L19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101517	PRSS50	serine protease 50	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101517	PRSS50	serine protease 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101517	PRSS50	serine protease 50	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101527	A4GNT	alpha-1,4-N-acetylglucosaminyltransferase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1348447	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, mononuclear cell	PMID:16441422|REF_RGD_ID:2325199
12101527	A4GNT	alpha-1,4-N-acetylglucosaminyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1348447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101527	A4GNT	alpha-1,4-N-acetylglucosaminyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1348447	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12101527	A4GNT	alpha-1,4-N-acetylglucosaminyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348447	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:11467	D	RGD:9068941	20200609	RGD			PMID:15733062|REF_RGD_ID:1580531
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:0060903	thrombosis		ISO	RGD:736404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15733062
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:1324	lung cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:736404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:9005851	46, XX Disorders of Sex Development		ISO	RGD:736404	D	RGD:8554872	20230418	ClinVar		ClinVar Annotator: match by term: 46,XX disorder of sex development	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101536	TYRO3	TYRO3 protein tyrosine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:736404	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321966	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:1909	melanoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:3275	thymoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321966	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387750
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:1310836	D	RGD:9068941	20250417	RGD			PMID:26081032|REF_RGD_ID:598130074
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31444509
12101572	PTGES2	prostaglandin E synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:1324	lung cancer		ISO	RGD:734001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:734001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:4362	cervical cancer		ISO	RGD:734001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:3377	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, membrane	PMID:26668322|REF_RGD_ID:11526267
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3377	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord, astrocyte, microglial cell	PMID:29033188|REF_RGD_ID:13514047
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:734001	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
12101638	PPP1CC	protein phosphatase 1 catalytic subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734001	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:2206	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:skull, serum	PMID:7920889|REF_RGD_ID:6483557
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0050445	X-linked hypophosphatemic rickets		ISO	RGD:1621634	D	RGD:9068941	20200609	RGD		mRNA:increased expression:long bone	PMID:22573557|REF_RGD_ID:7207229
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:2206	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12376805|REF_RGD_ID:7207414
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0080652	calcium oxalate nephrolithiasis		ISO	RGD:619567	D	RGD:9068941	20250703	RGD		protein:increased expression:serum:	PMID:21908029|REF_RGD_ID:7207408
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0090109	autosomal dominant hypocalcemia		ISO	RGD:2206	D	RGD:9068941	20200609	RGD			PMID:2106357|REF_RGD_ID:6483581
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood	PMID:22120694|REF_RGD_ID:6483542
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:0111535	progressive osseous heteroplasia		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:10283	prostate cancer		ISO	RGD:619567	D	RGD:9068941	20200609	RGD			PMID:12565780|REF_RGD_ID:6483580
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:11249	vitamin K deficiency bleeding		ISO	RGD:619567	D	RGD:9068941	20200609	RGD			PMID:16869104|REF_RGD_ID:6483568
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:11476	osteoporosis		ISO	RGD:2206	D	RGD:9068941	20200609	RGD			PMID:21550389|REF_RGD_ID:6483552
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:11476	osteoporosis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, type 2;associated with Diabetes Mellitus, type 2; protein:uncercarboxylated:serum	PMID:15108065|REF_RGD_ID:6483579
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:11476	osteoporosis	susceptibility	ISO	RGD:619567	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter:g.-298C>T (human)	PMID:23137636|REF_RGD_ID:10045665
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:2206	D	RGD:9068941	20250320	RGD		associated with alcohol use disorder	PMID:29698972|REF_RGD_ID:598092493
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:22989431|REF_RGD_ID:7205481
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:1485	cystic fibrosis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16622660|REF_RGD_ID:6483578
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:182	calcinosis		ISO	RGD:619567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:182	calcinosis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with hypertension;protein:undercarboxylated:serum	PMID:20197689|REF_RGD_ID:6483566
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:182	calcinosis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:2841	asthma		ISO	RGD:619567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8429434
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:4079	heart valve disease		ISO	RGD:619567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD			PMID:22447331|REF_RGD_ID:6483593
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:3488088|REF_RGD_ID:6483600
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:783	end stage renal disease		ISO	RGD:2206	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17365904|REF_RGD_ID:7207409
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:783	end stage renal disease		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20845051|REF_RGD_ID:7207235
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:619567	D	RGD:9068941	20200609	RGD			PMID:20157712|REF_RGD_ID:6483599
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:8778	Crohn's disease		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone	PMID:22535626|REF_RGD_ID:6483321
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:8778	Crohn's disease		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:undercarboxylated:serum	PMID:21482072|REF_RGD_ID:6483546
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type2; protein:increased expression:serum:	PMID:9347246|REF_RGD_ID:7207424
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:619567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14666681
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1621634	D	RGD:9068941	20200609	RGD			PMID:12674322|REF_RGD_ID:7207412
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:2206	D	RGD:9068941	20200609	RGD			PMID:21387139|REF_RGD_ID:6483595
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:619567	D	RGD:9068941	20200609	RGD			PMID:22294259|REF_RGD_ID:6483563
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002407	Spinal Fractures		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;	PMID:19641839|REF_RGD_ID:7207248
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002407	Spinal Fractures	disease_progression	ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with osteoporosis	PMID:12697366|REF_RGD_ID:7207225
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1621634	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:21406003|REF_RGD_ID:6483549
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9002589	Bone Fractures		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		associated with kidney failure, chronic;	PMID:21784896|REF_RGD_ID:7207231
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2206	D	RGD:9068941	20200609	RGD		protein:reduced expression:serum (rat)	PMID:19494718|REF_RGD_ID:2316184
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:2206	D	RGD:9068941	20200609	RGD			PMID:3105848|REF_RGD_ID:6483561
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:21760737|REF_RGD_ID:6483594
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:15747054|REF_RGD_ID:7207410
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9409	diabetes insipidus		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:9661594|REF_RGD_ID:7207422
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21041817|REF_RGD_ID:7207232
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:619567	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:9850345|REF_RGD_ID:7207419
12101654	BGLAP	bone gamma-carboxyglutamate protein	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:2206	D	RGD:9068941	20250320	RGD			PMID:31096652|REF_RGD_ID:598092496
12101662	DCN	decorin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101662	DCN	decorin	gene	DOID:0060445	congenital stromal corneal dystrophy		ISO	RGD:1346102	D	RGD:7240710	20180130	OMIM			
12101662	DCN	decorin	gene	DOID:0060445	congenital stromal corneal dystrophy		ISO	RGD:1346102	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL STROMAL | ClinVar Annotator: match by term: Congenital stromal corneal dystrophy | ClinVar Annotator: match by term: DCN-related condition	PMID:25741868|PMID:28492532
12101662	DCN	decorin	gene	DOID:1063	interstitial nephritis		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16005714
12101662	DCN	decorin	gene	DOID:11714	gestational diabetes		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD			PMID:16630654|REF_RGD_ID:2311413
12101662	DCN	decorin	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
12101662	DCN	decorin	gene	DOID:1324	lung cancer		ISO	RGD:1346102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101662	DCN	decorin	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:62188	D	RGD:9068941	20220825	MouseDO		OMIM:225400	
12101662	DCN	decorin	gene	DOID:2841	asthma		ISO	RGD:61895	D	RGD:9068941	20200609	RGD			PMID:16387756|REF_RGD_ID:2311423
12101662	DCN	decorin	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1346102	D	RGD:9068941	20200609	RGD			PMID:15475879|REF_RGD_ID:2311425
12101662	DCN	decorin	gene	DOID:3459	breast carcinoma		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD			PMID:18688028|REF_RGD_ID:2311418
12101662	DCN	decorin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101662	DCN	decorin	gene	DOID:5844	myocardial infarction		ISO	RGD:61895	D	RGD:9068941	20200609	RGD			PMID:16311904|REF_RGD_ID:1598497
12101662	DCN	decorin	gene	DOID:630	genetic disease		ISO	RGD:1346102	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12101662	DCN	decorin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12101662	DCN	decorin	gene	DOID:9000784	Fibrosis		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16005714
12101662	DCN	decorin	gene	DOID:9000784	Fibrosis		ISO	RGD:61895	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:16005714|REF_RGD_ID:2311424
12101662	DCN	decorin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:18688028|REF_RGD_ID:2311418
12101662	DCN	decorin	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:61895	D	RGD:9068941	20200609	RGD			PMID:19393425|REF_RGD_ID:2311417
12101662	DCN	decorin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:12187087|REF_RGD_ID:2311415
12101662	DCN	decorin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, urine	PMID:11259366|REF_RGD_ID:2311416
12101662	DCN	decorin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:62188	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17884968|REF_RGD_ID:2311411
12101662	DCN	decorin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:62188	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;mRNA, protein:decreased expression:kidney cortex, glomerulus	PMID:16868749|REF_RGD_ID:2311412
12101662	DCN	decorin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61895	D	RGD:9068941	20200609	RGD			PMID:15713786|REF_RGD_ID:2311414
12101662	DCN	decorin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12101662	DCN	decorin	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346102	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16804899
12101662	DCN	decorin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346102	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18414424|REF_RGD_ID:2311410
12101662	DCN	decorin	gene	DOID:9970	obesity		ISO	RGD:61895	D	RGD:9068941	20200609	RGD			PMID:17244723|REF_RGD_ID:1600551
12101662	DCN	decorin	gene	DOID:9970	obesity		ISO	RGD:62188	D	RGD:9068941	20200609	RGD			PMID:17244723|REF_RGD_ID:1600551
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0080000	muscular disease		ISO	RGD:1353383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29905857
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:7240710	20180130	OMIM			
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110660	congenital myasthenic syndrome 12		ISO	RGD:1353383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 12 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21310273|PMID:21975507|PMID:23569079|PMID:23794683|PMID:25635128|PMID:25741868|PMID:26467025|PMID:28464723|PMID:28492532|PMID:28712002|PMID:29054425|PMID:30124556|PMID:30653653|PMID:32140910|PMID:32403337|PMID:32528171|PMID:32754643|PMID:33756069|PMID:34978387|PMID:36188410|PMID:37366078|PMID:37721175|PMID:9536098
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 13	PMID:21310273|PMID:25741868|PMID:28492532
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:1353383	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastrocnemius	PMID:16555472|REF_RGD_ID:1624365
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:1909	melanoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastrocnemius	PMID:16555472|REF_RGD_ID:1624365
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1353383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	PMID:21310273|PMID:25741868|PMID:28492532
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:423	myopathy		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23794683|PMID:25741868|PMID:28464723|PMID:28492532|PMID:29054425|PMID:32403337|PMID:32528171
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:630	genetic disease		ISO	RGD:1353383	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:9519709|REF_RGD_ID:2313353
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1549703	D	RGD:9068941	20200609	RGD		protein:decreased expression:epididymal fat pad, liver, skeletal muscle	PMID:7589852|REF_RGD_ID:2313355
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:17574229|REF_RGD_ID:2313352
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12101687	GFPT1	glutamine--fructose-6-phosphate transaminase 1	gene	DOID:9970	obesity		ISO	RGD:1353383	D	RGD:9068941	20200609	RGD			PMID:11118009|REF_RGD_ID:1625423
12101711	ATOSB	atos homolog B	gene	DOID:1470	major depressive disorder		ISO	RGD:1322605	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
12101711	ATOSB	atos homolog B	gene	DOID:1909	melanoma		ISO	RGD:1322605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101711	ATOSB	atos homolog B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:1115	sarcoma		ISO	RGD:1607037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:1324	lung cancer		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:1909	melanoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:3070	high grade glioma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:3275	thymoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101736	CCDC106	coiled-coil domain containing 106	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:0060046	aphasia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:0060249	scoliosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:10907	microcephaly		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:1115	sarcoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:11830	myopia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:1826	epilepsy		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:2841	asthma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:3275	thymoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:4362	cervical cancer		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:4667	kyphosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophageal stricture	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605273	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9007892	Tics		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38387458
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101757	DENND5B	DENN domain containing 5B	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:38387458
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732683	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732683	D	RGD:9068941	20200609	RGD		protein:increased expression:superior,  middle temporal gyrus;	PMID:11597610|REF_RGD_ID:14349051
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:1115	sarcoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:732683	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19077459|REF_RGD_ID:2325696
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101786	AKR7A2	aldo-keto reductase family 7 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101797	C34H3orf70	chromosome 34 C3orf70 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101797	C34H3orf70	chromosome 34 C3orf70 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101797	C34H3orf70	chromosome 34 C3orf70 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101797	C34H3orf70	chromosome 34 C3orf70 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1562339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12101797	C34H3orf70	chromosome 34 C3orf70 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1322098	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Benign scapuloperoneal muscular dystrophy with cardiomyopathy | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:16783378|PMID:17576681|PMID:18570303|PMID:18799783|PMID:22213678|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1322098	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16199547|PMID:17576681|PMID:25210889|PMID:25741868|PMID:28492532|PMID:9536098
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12101810	SUN2	Sad1 and UNC84 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101836	CATSPER3	cation channel sperm associated 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101836	CATSPER3	cation channel sperm associated 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101836	CATSPER3	cation channel sperm associated 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351431	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15882971
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621370	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:7560067|REF_RGD_ID:632804
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101859	GCNT1	glucosaminyl (N-acetyl) transferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:0050753	cerebellar ataxia		IAGP		D	RGD:12801476	20250113	OMIA		Neurodegenerative vacuolar storage disease	PMID:25875846|PMID:28583040|PMID:33016245|PMID:37341581|PMID:38920354|PMID:38003185
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:0070730	spermatogenic failure 101		ISO	RGD:1348604	D	RGD:7240710	20260603	OMIM			
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:0070730	spermatogenic failure 101		ISO	RGD:1348604	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 101	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1348604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1348604	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	PMID:20809525|PMID:21382890|PMID:28492532|PMID:28645073
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:1909	melanoma		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:4362	cervical cancer		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1615670	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348604	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ATG4D-related neurodevelopmental condition	PMID:25741868|PMID:33795848|PMID:36765070
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101885	ATG4D	autophagy related 4D cysteine peptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12101900	MARCHF4	membrane associated ring-CH-type finger 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101900	MARCHF4	membrane associated ring-CH-type finger 4	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1353584	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: frontotemporal dementia	PMID:29476165
12101913	LOC489516	heparan sulfate glucosamine 3-O-sulfotransferase 3B1	gene	DOID:1115	sarcoma		ISO	RGD:1316454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101913	LOC489516	heparan sulfate glucosamine 3-O-sulfotransferase 3B1	gene	DOID:289	endometriosis		ISO	RGD:1316454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12101913	LOC489516	heparan sulfate glucosamine 3-O-sulfotransferase 3B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:0060260	ptosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:11476	osteoporosis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1682	congenital heart disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1826	epilepsy		ISO	RGD:1317694	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1891	optic nerve disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:1969	cerebral palsy		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:3070	high grade glioma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:3275	thymoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:480	movement disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:630	genetic disease		ISO	RGD:1317694	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317694	D	RGD:9068941	20210416	RGD		mRNA:decreased expression:liver	PMID:26517514|REF_RGD_ID:11537550
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:769	neuroblastoma		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:8927	learning disability		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9000495	Tremor		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9002801	Recurrence		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:7240710	20221116	OMIM			
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9003182	Parenti-Mignot Neurodevelopmental Syndrome		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHD5-related condition | ClinVar Annotator: match by term: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: Parenti-mignot neurodevelopmental syndrome	PMID:25741868|PMID:27616479|PMID:28492532|PMID:30397230|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317694	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317694	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:33944996
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12101919	CHD5	chromodomain helicase DNA binding protein 5	gene	DOID:936	brain disease		ISO	RGD:1317694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:33944996
12101969	CORO1A	coronin 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:732928	D	RGD:7240710	20180130	OMIM			
12101969	CORO1A	coronin 1A	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:732928	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORO1A-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 8 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 8	PMID:18836449|PMID:25073507|PMID:25741868|PMID:27577878|PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:732929	D	RGD:9068941	20220825	MouseDO		OMIM:608971	
12101969	CORO1A	coronin 1A	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:732928	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12101969	CORO1A	coronin 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101969	CORO1A	coronin 1A	gene	DOID:12849	autistic disorder		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:1826	epilepsy		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:1909	melanoma		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101969	CORO1A	coronin 1A	gene	DOID:2030	anxiety disorder		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:2841	asthma		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:305	carcinoma		ISO	RGD:732928	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
12101969	CORO1A	coronin 1A	gene	DOID:399	tuberculosis		ISO	RGD:732928	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16040207
12101969	CORO1A	coronin 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12101969	CORO1A	coronin 1A	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:732928	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	
12101969	CORO1A	coronin 1A	gene	DOID:630	genetic disease		ISO	RGD:732928	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732928	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489049
12101969	CORO1A	coronin 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101969	CORO1A	coronin 1A	gene	DOID:9008023	Memory Disorders		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12101969	CORO1A	coronin 1A	gene	DOID:936	brain disease		ISO	RGD:732928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:28492532
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10508521|PMID:22065545|PMID:23379534|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:30718709
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0060869	late-onset retinal degeneration		ISO	RGD:1320565	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C249W (mouse)	PMID:17234588|REF_RGD_ID:8552692
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110016	Leber congenital amaurosis 2		ISO	RGD:1320564	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Early-onset retinal dystrophy | ClinVar Annotator: match by term: Leber congenital amaurosis 2	PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:32295525|PMID:33342761|PMID:33546218
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110016	Leber congenital amaurosis 2		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Early-onset retinal dystrophy	PMID:10508521|PMID:15024725|PMID:16543197|PMID:17724218|PMID:17964524|PMID:19140180|PMID:22065545|PMID:23379534|PMID:23449718|PMID:25133751|PMID:25323024|PMID:25412400|PMID:25741868|PMID:26147992|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521|PMID:31456290|PMID:31896775|PMID:33342761|PMID:33546218
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMAUROSIS CONGENITA OF LEBER I | ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:10508521|PMID:12700176|PMID:15459956|PMID:17724218|PMID:20956273|PMID:20981092|PMID:22065545|PMID:22995991|PMID:23379534|PMID:23847139|PMID:25412400|PMID:25741868|PMID:26312378|PMID:26957898|PMID:28041643|PMID:28492532|PMID:28819299|PMID:29053603|PMID:29186038|PMID:29391521|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35672425|PMID:36099972|PMID:36460718
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110079	Leber congenital amaurosis 8		ISO	RGD:1320564	D	RGD:7240710	20180130	OMIM			
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110079	Leber congenital amaurosis 8		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 8 | ClinVar Annotator: match by term: Leber congenital amaurosis 8	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16199547|PMID:16505055|PMID:16936081|PMID:17128490|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18055821|PMID:18682808|PMID:20065226|PMID:20079931|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22261762|PMID:22277662|PMID:22334370|PMID:22995991|PMID:23077403|PMID:23379534|PMID:23449718|PMID:23591405|PMID:23661368|PMID:23847139|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25323024|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26165328|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26957898|PMID:27032803|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27375279|PMID:27670293|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28224992|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:2953188|PMID:29641573|PMID:29844330|PMID:30029497|PMID:30416334|PMID:30576320|PMID:30608181|PMID:30718709|PMID:30902645|PMID:31049658|PMID:3105428|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31456290|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31884620|PMID:31964843|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32641690|PMID:32783370|PMID:32865313|PMID:32922261|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34426522|PMID:34721897|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36115989|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36909829|PMID:37903307|PMID:38219857|PMID:39496395|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:7240710	20180130	OMIM			
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 12	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12573663|PMID:12700176|PMID:12843338|PMID:1389483|PMID:1427914|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:15691574|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16505055|PMID:16543197|PMID:16936081|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17660513|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18055821|PMID:18682808|PMID:19140180|PMID:19339744|PMID:19401883|PMID:19763152|PMID:19956407|PMID:20065226|PMID:20079931|PMID:20301475|PMID:20307669|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22164218|PMID:22219627|PMID:22334370|PMID:22344438|PMID:22406018|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24618324|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25323024|PMID:25326637|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25611614|PMID:25640679|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26147992|PMID:26312378|PMID:26355662|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27032803|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27380427|PMID:27628848|PMID:27670293|PMID:27806333|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:28912962|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29074561|PMID:29145603|PMID:29178642|PMID:29186038|PMID:29200130|PMID:29343940|PMID:29391521|PMID:2953188|PMID:29555955|PMID:29641573|PMID:29844330|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30608181|PMID:30609409|PMID:30718709|PMID:30902645|PMID:30910914|PMID:31047384|PMID:31049658|PMID:3105428|PMID:31054281|PMID:31103025|PMID:31106028|PMID:31322236|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31884620|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32641690|PMID:32783370|PMID:32856788|PMID:32865313|PMID:32901917|PMID:32901921|PMID:32922261|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34828430|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35551639|PMID:35672425|PMID:36099972|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36819107|PMID:36909829|PMID:37734845|PMID:37762234|PMID:8069649|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 12 | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM | ClinVar Annotator: match by term: Retinitis pigmentosa 12	PMID:10508521|PMID:11389483|PMID:15459956|PMID:15623792|PMID:16199547|PMID:17724218|PMID:17964524|PMID:18055820|PMID:18682808|PMID:19763152|PMID:20307669|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:22065545|PMID:22261762|PMID:22406018|PMID:22995991|PMID:23379534|PMID:23449718|PMID:23847139|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25326637|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25611614|PMID:25741868|PMID:26047050|PMID:26312378|PMID:26667666|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28129017|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28819299|PMID:29053603|PMID:2906847|PMID:29068479|PMID:29343940|PMID:29391521|PMID:30718709|PMID:30902645|PMID:3105428|PMID:31736247|PMID:31884620|PMID:31964843|PMID:32141364|PMID:32531858|PMID:32783370|PMID:32865313|PMID:32922261|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33946315|PMID:34426522|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36460718|PMID:39496395
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110375	retinitis pigmentosa 40		ISO	RGD:1320564	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 40	PMID:10508521|PMID:22065545|PMID:23379534|PMID:23847139|PMID:25412400|PMID:25741868|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1320564	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa-13	PMID:16936081|PMID:25741868|PMID:26355662|PMID:28492532
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:7240710	20180130	OMIM			
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:0111541	pigmented paravenous chorioretinal atrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pigmented paravenous chorioretinal atrophy | ClinVar Annotator: match by term: Pigmented paravenous retinochoroidal atrophy	PMID:10508521|PMID:11389483|PMID:15459956|PMID:17724218|PMID:17964524|PMID:19339744|PMID:20956273|PMID:20981092|PMID:21602930|PMID:22065545|PMID:22995991|PMID:23379534|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26312378|PMID:26957898|PMID:28041643|PMID:28492532|PMID:28819299|PMID:29053603|PMID:29343940|PMID:29391521|PMID:3105428|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35119454|PMID:35170635|PMID:35672425|PMID:36460718|PMID:39496395
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30718709|PMID:31456290|PMID:33546218|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30718709|PMID:31456290|PMID:33546218
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant retinitis pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32165824|PMID:32581362|PMID:33090715|PMID:33546218|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29391521|PMID:30029497|PMID:30543658|PMID:30718709|PMID:31456290|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33546218|PMID:33579689|PMID:33921607|PMID:34884448|PMID:34906470|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22863181|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32176805|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35538629|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:14971589|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16272259|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055816|PMID:19339744|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22863181|PMID:22968130|PMID:23077403|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27157150|PMID:27353947|PMID:27380427|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28559085|PMID:28600779|PMID:28800606|PMID:29074561|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32176805|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33749171|PMID:33921607|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35538629|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:17576681|PMID:18055816|PMID:18055820|PMID:19401883|PMID:19956407|PMID:20301475|PMID:20956273|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24512366|PMID:24938718|PMID:25097241|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26626312|PMID:26914788|PMID:26957898|PMID:27113771|PMID:27353947|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29343940|PMID:29391521|PMID:30337596|PMID:30576320|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32141364|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33029571|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33970760|PMID:34003923|PMID:34327195|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:11389483|PMID:12700176|PMID:12843338|PMID:15459956|PMID:17576681|PMID:18055820|PMID:19956407|PMID:20956273|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24512366|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26047050|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28129017|PMID:28341475|PMID:28492532|PMID:28559085|PMID:29391521|PMID:30718709|PMID:3105428|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33579689|PMID:33970760|PMID:34003923|PMID:34426522|PMID:34758253|PMID:34884448|PMID:34906470|PMID:35119454|PMID:36460718|PMID:36819107|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10508521|PMID:17576681|PMID:19956407|PMID:21602930|PMID:22065545|PMID:23105016|PMID:23362850|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24938718|PMID:25097241|PMID:25356976|PMID:25412400|PMID:25741868|PMID:26355662|PMID:26497376|PMID:26957898|PMID:27353947|PMID:28041643|PMID:28492532|PMID:29391521|PMID:30718709|PMID:3105428|PMID:31456290|PMID:32531858|PMID:33090715|PMID:33579689|PMID:34906470|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1320564	D	RGD:9068941	20200609	RGD		DNA:missense mutations	PMID:10508521|REF_RGD_ID:1600966
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27628848|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29178642|PMID:29186038|PMID:29391521|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31896775|PMID:32141364|PMID:33342761|PMID:33546218|PMID:33576794
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital retinal blindness | ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22968130|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28181551|PMID:28341475|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29178642|PMID:29391521|PMID:29641573|PMID:30029497|PMID:30576320|PMID:30718709|PMID:31456290|PMID:31725702|PMID:31736247|PMID:31896775|PMID:32141364|PMID:32581362|PMID:32865313|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33921607|PMID:34884448|PMID:34906470|PMID:35318874|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Leber's disease | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29053603|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35672425|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12567265|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:15623792|PMID:16123401|PMID:16199547|PMID:16272259|PMID:16543197|PMID:17128490|PMID:17297678|PMID:17525851|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18682808|PMID:19140180|PMID:19401883|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22344438|PMID:22863181|PMID:22968130|PMID:22995991|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24033266|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24938718|PMID:25133751|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26147992|PMID:26312378|PMID:26667666|PMID:26872607|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27258436|PMID:27353947|PMID:27628848|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28800606|PMID:28819299|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29343940|PMID:29391521|PMID:29555955|PMID:29641573|PMID:29869924|PMID:30029497|PMID:3012021|PMID:30337596|PMID:30576320|PMID:30609409|PMID:30718709|PMID:30910914|PMID:31047384|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31875109|PMID:31879567|PMID:31896775|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901917|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33576794|PMID:33749171|PMID:33773389|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34034222|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35456422|PMID:35538629|PMID:35672425|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital | ClinVar Annotator: match by term: leber congenital amaurosis	PMID:10508521|PMID:11231775|PMID:11389483|PMID:12700176|PMID:12843338|PMID:1389483|PMID:15024725|PMID:15459956|PMID:16123401|PMID:16199547|PMID:16505055|PMID:16543197|PMID:17576681|PMID:17724218|PMID:17964524|PMID:18055816|PMID:18055820|PMID:18682808|PMID:19140180|PMID:19401883|PMID:19956407|PMID:20079931|PMID:20301475|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21147909|PMID:21217109|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22128245|PMID:22219627|PMID:22344438|PMID:22968130|PMID:22995991|PMID:23077403|PMID:23105016|PMID:23379534|PMID:23449718|PMID:23462753|PMID:23591405|PMID:23592920|PMID:23661368|PMID:23847139|PMID:24265693|PMID:24512366|PMID:24535598|PMID:24715753|PMID:24811962|PMID:24938718|PMID:25133751|PMID:25356976|PMID:25377065|PMID:25412400|PMID:25472526|PMID:25474345|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26147992|PMID:26312378|PMID:26626312|PMID:26667666|PMID:26766544|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27157150|PMID:27208204|PMID:27353947|PMID:27380427|PMID:27422788|PMID:27670293|PMID:27806333|PMID:28005958|PMID:28041643|PMID:28129017|PMID:28157192|PMID:28181551|PMID:28341475|PMID:28341476|PMID:28460491|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28600779|PMID:28714225|PMID:28819299|PMID:28912962|PMID:2906847|PMID:29068479|PMID:29145603|PMID:29178642|PMID:29200130|PMID:29343940|PMID:29391521|PMID:29641573|PMID:29869924|PMID:30029497|PMID:30337596|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30902645|PMID:3105428|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31725702|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32141364|PMID:32165824|PMID:32176805|PMID:32322752|PMID:32351147|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32856788|PMID:32865313|PMID:32901917|PMID:32901921|PMID:32931148|PMID:33029571|PMID:33077954|PMID:33090715|PMID:33342761|PMID:33546218|PMID:33576794|PMID:33579689|PMID:33633436|PMID:33749171|PMID:33921607|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34130719|PMID:34315337|PMID:34321860|PMID:34327195|PMID:34426522|PMID:34721897|PMID:34758253|PMID:34783605|PMID:34884448|PMID:34906470|PMID:35119454|PMID:35170635|PMID:35318874|PMID:35538629|PMID:35551639|PMID:35672425|PMID:36099972|PMID:36196406|PMID:36284460|PMID:36369640|PMID:36460718|PMID:36648511|PMID:36729443|PMID:36819107|PMID:36830922|PMID:36909829|PMID:37009079|PMID:37217489|PMID:37240262|PMID:37541258|PMID:37544434|PMID:37734845|PMID:37762234|PMID:37792335|PMID:38066771|PMID:38088826|PMID:38219857|PMID:38279252|PMID:38466290|PMID:39062705|PMID:39089008|PMID:39462066|PMID:39699888|PMID:39766915|PMID:40610573|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:1909	melanoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25097241|PMID:25741868|PMID:28492532
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:4448	macular degeneration		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:29391521
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:5327	retinal detachment		ISO	RGD:1320564	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11389483
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:5419	schizophrenia		ISO	RGD:1320564	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:5679	retinal disease		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15623792|PMID:17128490|PMID:17297678|PMID:22065545|PMID:23379534|PMID:24033266|PMID:25474345|PMID:25741868|PMID:27096895|PMID:27258436|PMID:27628848|PMID:28041643|PMID:28181551|PMID:28492532|PMID:28559085|PMID:28819299|PMID:29391521|PMID:29555955|PMID:29869924|PMID:30609409|PMID:30910914|PMID:31047384|PMID:31736247|PMID:31875109|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32531858|PMID:32581362|PMID:33029571|PMID:33387055|PMID:33546218|PMID:33749171|PMID:33773389|PMID:34003923|PMID:34034222|PMID:34426522|PMID:34783605|PMID:34884448|PMID:35119454|PMID:35456422|PMID:36196406|PMID:36460718|PMID:36819107|PMID:36909829
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:5723	optic atrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:32531858
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:630	genetic disease		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:7736	retinal telangiectasia		ISO	RGD:1320564	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11389483
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1320564	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10508521|PMID:11389483|PMID:12700176|PMID:15024725|PMID:15459956|PMID:15623792|PMID:15691574|PMID:16199547|PMID:16936081|PMID:17576681|PMID:17964524|PMID:18055820|PMID:20591486|PMID:20683928|PMID:20956273|PMID:20981092|PMID:21484995|PMID:21602930|PMID:21757580|PMID:22065545|PMID:22164218|PMID:22261762|PMID:22995991|PMID:23379534|PMID:23449718|PMID:24265693|PMID:24535598|PMID:24618324|PMID:24938718|PMID:25323024|PMID:25356976|PMID:25377065|PMID:25412400|PMID:2552515|PMID:25525159|PMID:25741868|PMID:26047050|PMID:26165328|PMID:26312378|PMID:26914788|PMID:26957898|PMID:27096895|PMID:27113771|PMID:27208204|PMID:27353947|PMID:27380427|PMID:28041643|PMID:28157192|PMID:28224992|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28819299|PMID:29053603|PMID:29074561|PMID:29186038|PMID:29343940|PMID:29391521|PMID:30543658|PMID:30576320|PMID:30718709|PMID:30910914|PMID:3105428|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31736247|PMID:31816670|PMID:31879567|PMID:31896775|PMID:3196484|PMID:31964843|PMID:32037395|PMID:32322752|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32865313|PMID:32901921|PMID:33090715|PMID:33342761|PMID:33387055|PMID:33546218|PMID:33749171|PMID:33946315|PMID:33970760|PMID:34003923|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35456422|PMID:35672425|PMID:36099972|PMID:36284460|PMID:36460718|PMID:36819107|PMID:37240262|PMID:37734845|PMID:37762234|PMID:9536098
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1320564	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:15459956|PMID:20956273|PMID:20981092|PMID:22065545|PMID:22995991|PMID:25741868|PMID:26312378|PMID:28492532|PMID:28819299|PMID:31736247|PMID:31964843|PMID:32783370|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34884448|PMID:35170635|PMID:35672425
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:9006597	Retinal Dysplasia	treatment	ISO	RGD:1320565	D	RGD:9068941	20200609	RGD			PMID:24346171|REF_RGD_ID:8552698
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:9007488	Idiopathic Juxtafoveal Retinal Telangiectasia		ISO	RGD:1309947	D	RGD:9068941	20200609	RGD			PMID:25878282|REF_RGD_ID:13451131
12101988	CRB1	crumbs cell polarity complex component 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1320564	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:30820146|PMID:38374194
12102012	EFCAB3	EF-hand calcium binding domain 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12102012	EFCAB3	EF-hand calcium binding domain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARGE association	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0060260	ptosis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:10376	amblyopia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1059	intellectual disability		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:10892	hypospadias		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypospadias	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:10907	microcephaly		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:11383	cryptorchidism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:11782	astigmatism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:12270	coloboma		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chorioretinal coloboma | ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:12273	anisometropia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:12849	autistic disorder		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:14766	renal agenesis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1657	ventricular septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1664	pineoblastoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pineoblastoma	PMID:25741868|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1826	epilepsy		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27804958|PMID:28492532|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278|PMID:39825153
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1826	epilepsy		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:2030	anxiety disorder		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:2340	craniosynostosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:3086	gingival overgrowth		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:420	hypertrichosis		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hypertrichosis	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:4362	cervical cancer		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:4667	kyphosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:540	strabismus		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:557	kidney disease		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:630	genetic disease		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES		ISO	RGD:731253	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9000641	Pain		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9001510	Funnel Chest		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21435101
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	PMID:27804958|PMID:28327570|PMID:28492532
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003133	Hypertelorism		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003566	Mesothelioma		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21435101
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Persistent truncus arteriosus	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003816	Macrocephaly		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003952	Verheij Syndrome		ISO	RGD:731253	D	RGD:7240710	20180130	OMIM			
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9003952	Verheij Syndrome		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 8q24.3 DELETION SYNDROME | ClinVar Annotator: match by term: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | ClinVar Annotator: match by term: PUF60-related disorder | ClinVar Annotator: match by term: VERHEIJ SYNDROME | ClinVar Annotator: match by term: Verheij syndrome	PMID:18059478|PMID:18414213|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:30006928|PMID:32746448
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9004108	Fused Kidney		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9004226	Hittner Hirsch Kreh Syndrome		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hittner Hirsch Kreh syndrome	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9004552	Genu Varum		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9004866	Ataxia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005077	Joint Instability		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005466	Language Development Disorders		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35322241|PMID:35982159|PMID:36134573|PMID:36367278|PMID:37303278
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:27804958
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005616	Micrognathism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia | ClinVar Annotator: match by term: micrognathia	PMID:18059478|PMID:25741868|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9005749	Necrosis		ISO	RGD:731253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21435101
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9006617	Fatigue		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9007152	Talipes		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:731253	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9007573	Flatfoot		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9007661	Dwarfism		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18059478|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731253	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:18059478|PMID:25741868|PMID:27804958|PMID:28074499|PMID:28327570|PMID:28471317|PMID:29788428|PMID:38177409
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9008214	Genu Valgum		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9008268	Enuresis		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9834	hyperopia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:987	alopecia		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:25741868
12102074	PUF60	poly(U) binding splicing factor 60	gene	DOID:9970	obesity		ISO	RGD:731253	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:0080590	Klippel-Feil syndrome 2		ISO	RGD:1318950	D	RGD:7240710	20180130	OMIM			
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:0080590	Klippel-Feil syndrome 2		ISO	RGD:1318950	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLIPPEL-FEIL SYNDROME 2 | ClinVar Annotator: match by term: Klippel-Feil syndrome 2, autosomal recessive | ClinVar Annotator: match by term: MEOX1-related condition	PMID:25741868|PMID:28492532
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:10426	Klippel-Feil syndrome		ISO	RGD:1318950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1318950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1318950	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: therapeutic	PMID:34837450
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1318950	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: therapeutic	PMID:34837450
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318950	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3	PMID:38922859
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102106	MEOX1	mesenchyme homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1318950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12102114	ENPP7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1342953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12102114	ENPP7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1342953	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12102114	ENPP7	ectonucleotide pyrophosphatase/phosphodiesterase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102123	INSIG2	insulin induced gene 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102123	INSIG2	insulin induced gene 2	gene	DOID:1115	sarcoma		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102123	INSIG2	insulin induced gene 2	gene	DOID:2841	asthma		ISO	RGD:735428	D	RGD:9068941	20260813	RGD		DNA:SNP: :rs7566605	PMID:22355322|REF_RGD_ID:736803850
12102123	INSIG2	insulin induced gene 2	gene	DOID:4362	cervical cancer		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102123	INSIG2	insulin induced gene 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102123	INSIG2	insulin induced gene 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102123	INSIG2	insulin induced gene 2	gene	DOID:783	end stage renal disease		ISO	RGD:631417	D	RGD:9068941	20230914	RGD		protein:decreased expression:kidney (rat)	PMID:19878707|REF_RGD_ID:2326081
12102123	INSIG2	insulin induced gene 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12102123	INSIG2	insulin induced gene 2	gene	DOID:9004657	Weight Gain		ISO	RGD:735428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18195716|PMID:20373477
12102123	INSIG2	insulin induced gene 2	gene	DOID:9006599	Hypertriglyceridemia	severity	ISO	RGD:735429	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:15096598|REF_RGD_ID:2308857
12102123	INSIG2	insulin induced gene 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102123	INSIG2	insulin induced gene 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102123	INSIG2	insulin induced gene 2	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:735429	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:15096598|REF_RGD_ID:2308857
12102123	Insig2	insulin induced gene 2	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:631417	D	RGD:9068941	20260813	RGD		mRNA,protein:decreased expression:liver	PMID:26694996|REF_RGD_ID:736803851
12102123	Insig2	insulin induced gene 2	gene	DOID:9351	diabetes mellitus	treatment	ISO	RGD:631417	D	RGD:9068941	20260813	RGD			PMID:12624180|REF_RGD_ID:724448
12102132	THADA	THADA armadillo repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:10534	stomach cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:1324	lung cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:3070	high grade glioma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:3275	thymoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:4362	cervical cancer		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1323240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18372903
12102132	THADA	THADA armadillo repeat containing	gene	DOID:9849	Meniere's disease		ISO	RGD:1323240	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1354333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29289645
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1354333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:583	hemolytic anemia		ISO	RGD:1354333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25411909
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1354333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25411909
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9006620	Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome		ISO	RGD:1354333	D	RGD:7240710	20200715	OMIM			
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9006620	Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome		ISO	RGD:1354333	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: EIF2AK1-related condition | ClinVar Annotator: match by term: Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	PMID:25741868|PMID:28492532|PMID:32197074
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1354333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25411909
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1354333	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12102184	EIF2AK1	eukaryotic translation initiation factor 2 alpha kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12102249	LOC100688091	small nucleolar RNA SNORD22	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344519	D	RGD:9068941	20220818	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12102249	LOC100688091	small nucleolar RNA SNORD22	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344519	D	RGD:9068941	20220818	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:1824	status epilepticus		ISO	RGD:1307098	D	RGD:9068941	20201218	RGD		mRNA, protein:decreased expression:white matter of cerebral lobe	PMID:31415741|REF_RGD_ID:40902837
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:630	genetic disease		ISO	RGD:1316088	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11337472|PMID:27479843
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1307098	D	RGD:9068941	20201218	RGD			PMID:22173726|REF_RGD_ID:40902844
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1316089	D	RGD:9068941	20201218	RGD			PMID:28452182|REF_RGD_ID:40902836
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316088	D	RGD:9068941	20201211	RGD		associated with breast cancer	PMID:27340107|REF_RGD_ID:40902824
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1307098	D	RGD:9068941	20201218	RGD			PMID:29682587|REF_RGD_ID:40902863
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1316089	D	RGD:9068941	20201211	RGD			PMID:24941845|REF_RGD_ID:40902822
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:1316088	D	RGD:9068941	20201211	RGD			PMID:15579294|REF_RGD_ID:40902823
12102271	OLIG2	oligodendrocyte transcription factor 2	gene	DOID:9790	toxocariasis		ISO	RGD:1316089	D	RGD:9068941	20201211	RGD			PMID:25773181|REF_RGD_ID:40902825
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:0060940	dystonia 33		ISO	RGD:1605026	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dystonia 33	PMID:25741868
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:0080195	Marinesco-Sjogren syndrome		ISO	RGD:1605026	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Marinesco-Sjogren syndrome	PMID:25741868
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1605026	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:5154	borna disease		ISO	RGD:1589591	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum,hippocampus	PMID:16912310|REF_RGD_ID:32733622
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1605026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605026	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102365	EIF2A	eukaryotic translation initiation factor 2A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1605026	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19041636
12102383	MPZL1	myelin protein zero like 1	gene	DOID:1909	melanoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:305	carcinoma		ISO	RGD:1343477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12102383	MPZL1	myelin protein zero like 1	gene	DOID:3275	thymoma		ISO	RGD:1343477	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102383	MPZL1	myelin protein zero like 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12102383	MPZL1	myelin protein zero like 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1343477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12102383	MPZL1	myelin protein zero like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:1909	melanoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:3275	thymoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102392	ARAP2	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102437	EPX	eosinophil peroxidase	gene	DOID:2841	asthma		ISO	RGD:1323569	D	RGD:9068941	20200609	RGD		protein:increased activity:sputum,nasal,pharyngeal mucosa	PMID:26645423|REF_RGD_ID:11574908
12102437	EPX	eosinophil peroxidase	gene	DOID:2841	asthma	disease_progression	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:20813885|REF_RGD_ID:13506891
12102437	EPX	eosinophil peroxidase	gene	DOID:2841	asthma	severity	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:12199967|REF_RGD_ID:13506892
12102437	EPX	eosinophil peroxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12102437	EPX	eosinophil peroxidase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323569	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12102437	EPX	eosinophil peroxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102437	EPX	eosinophil peroxidase	gene	DOID:9000406	Eosinophilic Asthma	treatment	ISO	RGD:1323569	D	RGD:9068941	20200609	RGD			PMID:28751233|REF_RGD_ID:13506890
12102437	EPX	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:7240710	20180130	OMIM			
12102437	EPX	eosinophil peroxidase	gene	DOID:9006769	Presentey Anomaly		ISO	RGD:1323569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EOSINOPHIL PEROXIDASE DEFICIENCY | ClinVar Annotator: match by term: Eosinophil peroxidase deficiency	PMID:25741868
12102437	EPX	eosinophil peroxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102437	EPX	eosinophil peroxidase	gene	DOID:9415	allergic asthma		ISO	RGD:1323569	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:11846868|REF_RGD_ID:13506893
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with sickle cell anemia;DNA:missense mutation:exon 6:1238G>C (human)	PMID:12393616|REF_RGD_ID:737738
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:0060180	colitis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:colon:	PMID:22261574|REF_RGD_ID:7207796
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:0070227	intrahepatic cholestasis of pregnancy		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28851649
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:0080162	lupus nephritis	severity	ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:22788914|REF_RGD_ID:7241032
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10230	aortic atherosclerosis	treatment	ISO	RGD:3952	D	RGD:9068941	20260226	RGD			PMID:32397494|REF_RGD_ID:632527149
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10534	stomach cancer		ISO	RGD:730988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10763	hypertension		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple organs	PMID:19080338|REF_RGD_ID:2313107
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10763	hypertension		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11834524|PMID:19018797
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10763	hypertension		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type1; protein:increased expression:serum:	PMID:20569722|REF_RGD_ID:7241235
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10763	hypertension	disease_progression	ISO	RGD:3952	D	RGD:9068941	20200609	RGD		associated with SHRSP;mRNA,protein:increased expression:kidney, membrane fraction (rat)	PMID:17938382|REF_RGD_ID:1643008
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16916123
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1115	sarcoma		ISO	RGD:730988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:18159007|REF_RGD_ID:2313110
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16332659|PMID:25575156
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:femoral artery:	PMID:23069071|REF_RGD_ID:7207785
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:12086338|REF_RGD_ID:1580352
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:13001	carotid stenosis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:19958991|REF_RGD_ID:7240515
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:13580	cholestasis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224055
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:13949	interstitial cystitis		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:bladder, urine	PMID:22441309|REF_RGD_ID:7241234
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1555	urticaria		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12121561
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:17652277|REF_RGD_ID:2325162
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1936	atherosclerosis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12677255
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:11481	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2224	essential thrombocythemia		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24434346|REF_RGD_ID:11354980
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2355	anemia		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency,Chronic;protein:increased expression:serum:	PMID:18974656|REF_RGD_ID:7241202
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20175758
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2723	dermatitis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27206134
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18574676|REF_RGD_ID:7241215
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:3275	thymoma		ISO	RGD:730988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:3407	carotid artery disease		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19717975|REF_RGD_ID:2312760
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:730988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:4676	uremia		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17347482
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:11481	D	RGD:9068941	20200609	RGD		protein:increased expression:urine, serum:	PMID:23460853|REF_RGD_ID:7241232
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:4989	pancreatitis		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12923961|REF_RGD_ID:2325163
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:3952	D	RGD:9068941	20240125	RGD		associated with chronic intermittent hypoxia; mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:520	aortic disease		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:17873024|REF_RGD_ID:2313112
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:blood vessel endothelium	PMID:17934115|REF_RGD_ID:2298843
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22922871
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:77	gastrointestinal system disease	susceptibility	ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with  Purpura, Schoenlein-Henoch;DNA:polymorphism:cds:	PMID:11361181|REF_RGD_ID:11354985
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:784	chronic kidney disease		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20820841|REF_RGD_ID:4145364
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:784	chronic kidney disease		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21111939|REF_RGD_ID:7241036
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:824	periodontitis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		associated with obesity;protein:increased expression:aorta:	PMID:20065945|REF_RGD_ID:7240508
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:8481	rheumatic myocarditis	severity	ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22987107|REF_RGD_ID:13702907
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15553846
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:vitreous humor, serum	PMID:19237221|REF_RGD_ID:2312762
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:3952	D	RGD:9068941	20240125	RGD		mRNA, protein:increased expression:liver (rat)	PMID:32626927|REF_RGD_ID:401959337
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14602771
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9000888	Pregnancy in Diabetics		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:20129688|REF_RGD_ID:7241238
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms;protein:increased expression:serum	PMID:12923961|REF_RGD_ID:2325163
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9001542	Albuminuria		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:18299691|REF_RGD_ID:2312766
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:730988	D	RGD:9068941	20260806	CTD		CTD Direct Evidence: marker/mechanism	PMID:41576688
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:23303408|REF_RGD_ID:7240523
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus,Type 1;protein:increased expression:plasma:	PMID:20138682|REF_RGD_ID:7241237
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:12196270|REF_RGD_ID:1580348
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:thrombus, vein	PMID:23199547|REF_RGD_ID:7207783
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:18813897|REF_RGD_ID:2313108
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3952	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3952	D	RGD:9068941	20260409	RGD		associated with burns	PMID:22360954|PMID:22455798|REF_RGD_ID:645122548|REF_RGD_ID:645122549
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:12172318|REF_RGD_ID:1580350
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11481	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:18093596|REF_RGD_ID:2306988
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:18983856|REF_RGD_ID:2312764
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:20061033|REF_RGD_ID:7240511
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:20164827|REF_RGD_ID:7240507
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with obesity;protein:increased expression:serum:	PMID:22677566|REF_RGD_ID:7241033
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:18718174|REF_RGD_ID:2313109
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9006709	Primary Graft Dysfunction		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9007278	Anaphylaxis		ISO	RGD:3952	D	RGD:9068941	20200609	RGD			PMID:21604443|REF_RGD_ID:7207802
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:11882338|REF_RGD_ID:1580351
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:23052973|REF_RGD_ID:7207792
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:21512820|REF_RGD_ID:7207803
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:730988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12759764
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9009185	Lymphocytic Myocarditis		ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:9205546|REF_RGD_ID:13703027
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:730988	D	RGD:9068941	20200609	RGD			PMID:18693542|REF_RGD_ID:7241211
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18619052|REF_RGD_ID:2312765
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:3952	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:19915157|REF_RGD_ID:7240517
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19414982|REF_RGD_ID:2312761
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:730988	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic;protein:increased expression:artery:	PMID:22210567|REF_RGD_ID:7241034
12102456	VCAM1	vascular cell adhesion molecule 1	gene	DOID:9970	obesity		ISO	RGD:11481	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:19260948|REF_RGD_ID:2312763
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:10534	stomach cancer		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:1115	sarcoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:1324	lung cancer		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:3275	thymoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:5041	esophageal cancer		ISO	RGD:1347693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102480	ADGRF5	adhesion G protein-coupled receptor F5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347693	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102522	SLC22A16	solute carrier family 22 member 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102522	SLC22A16	solute carrier family 22 member 16	gene	DOID:0080600	COVID-19		ISO	RGD:1344136	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12102522	SLC22A16	solute carrier family 22 member 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102522	SLC22A16	solute carrier family 22 member 16	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1344136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12102522	SLC22A16	solute carrier family 22 member 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102553	PCM1	pericentriolar material 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102553	PCM1	pericentriolar material 1	gene	DOID:1115	sarcoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:1324	lung cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102553	PCM1	pericentriolar material 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12102553	PCM1	pericentriolar material 1	gene	DOID:1682	congenital heart disease		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:25741868
12102553	PCM1	pericentriolar material 1	gene	DOID:1909	melanoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12102553	PCM1	pericentriolar material 1	gene	DOID:3275	thymoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102553	PCM1	pericentriolar material 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102553	PCM1	pericentriolar material 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349730	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102553	PCM1	pericentriolar material 1	gene	DOID:5419	schizophrenia		ISO	RGD:1349730	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19048012
12102553	PCM1	pericentriolar material 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102553	PCM1	pericentriolar material 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349730	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10980597|PMID:25741868
12102553	PCM1	pericentriolar material 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102553	PCM1	pericentriolar material 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:1059	intellectual disability		ISO	RGD:1352000	D	RGD:9068941	20200609	RGD		DNA:duplications:cds: (human)	PMID:23376982|REF_RGD_ID:10045550
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:1324	lung cancer		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:1793	pancreatic cancer		ISO	RGD:1352000	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:15796914|REF_RGD_ID:10045549
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1352000	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:630	genetic disease		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:9004119	Richieri Costa-Pereira Syndrome		ISO	RGD:1352000	D	RGD:7240710	20180130	OMIM			
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:9004119	Richieri Costa-Pereira Syndrome		ISO	RGD:1352000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF4A3-related condition | ClinVar Annotator: match by term: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES	
12102639	EIF4A3	eukaryotic translation initiation factor 4A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102655	PCDH9	protocadherin 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314916	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227
12102655	PCDH9	protocadherin 9	gene	DOID:10534	stomach cancer		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102655	PCDH9	protocadherin 9	gene	DOID:1909	melanoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102655	PCDH9	protocadherin 9	gene	DOID:3275	thymoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102655	PCDH9	protocadherin 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12102655	PCDH9	protocadherin 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606689	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102670	PLBD2	phospholipase B domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606689	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary sensory radicular neuropathy, recessive form | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Neuropathy, congenital sensory	PMID:17344846|PMID:18580052|PMID:22910560|PMID:22934535|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32790646|PMID:33726816|PMID:34159796
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1343905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY RADICULAR, AUTOSOMAL RECESSIVE	PMID:22910560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32790646|PMID:33726816|PMID:34159796
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1343905	D	RGD:7240710	20180130	OMIM			
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1343905	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ACROOSTEOLYSIS, NEUROGENIC | ClinVar Annotator: match by term: Giaccai type acroosteolysis | ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17344846|PMID:17576681|PMID:18521183|PMID:18580052|PMID:19651702|PMID:21089229|PMID:21530900|PMID:21625937|PMID:22302274|PMID:22910560|PMID:22934535|PMID:23149595|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27671536|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:9536098
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1343905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type IIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY SENSORY, TYPE IIA | ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A | ClinVar Annotator: match by term: neuropathy, hereditary sensory and autonomic, type 2A	PMID:11498583|PMID:15060842|PMID:15455397|PMID:15911806|PMID:16199547|PMID:16534117|PMID:16636245|PMID:16946995|PMID:17576681|PMID:18521183|PMID:19651702|PMID:21625937|PMID:22302274|PMID:22910560|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066579|PMID:27765018|PMID:28422281|PMID:28492532|PMID:29701257|PMID:30497409|PMID:31132985|PMID:32790646|PMID:33726816|PMID:34159796|PMID:35859812|PMID:9536098
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343905	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15911806|PMID:16534117|PMID:16636245|PMID:18521183
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:10763	hypertension		ISO	RGD:1343905	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:10763	hypertension		ISO	RGD:1343905	D	RGD:9068941	20200609	RGD			PMID:16301342|REF_RGD_ID:1580829
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621141	D	RGD:9068941	20200609	RGD			PMID:27798271|REF_RGD_ID:14398833
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1343905	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:25741868
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1343905	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1343905	D	RGD:9068941	20260604	RGD			PMID:11498583|REF_RGD_ID:1580828
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343905	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:557	kidney disease		ISO	RGD:1343905	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21865292
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1343905	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:22910560|PMID:25741868|PMID:28492532|PMID:33726816
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:870	neuropathy		ISO	RGD:1343905	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: neuropathy	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:9006034	Pseudohypoaldosteronism, Type IIC		ISO	RGD:1343905	D	RGD:7240710	20180130	OMIM			
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:9006034	Pseudohypoaldosteronism, Type IIC		ISO	RGD:1343905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IIC | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2C	PMID:11498583|PMID:15911806|PMID:21530900|PMID:22302274|PMID:22910560|PMID:23387299|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30497409|PMID:32790646|PMID:33726816|PMID:34159796
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102686	WNK1	WNK lysine deficient protein kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:10534	stomach cancer		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:1909	melanoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:4362	cervical cancer		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102747	SGTB	small glutamine rich tetratricopeptide repeat co-chaperone beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1350188	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22474449
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:0070539	Halperin-Birk syndrome		ISO	RGD:1350188	D	RGD:7240710	20200122	OMIM			
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:0070539	Halperin-Birk syndrome		ISO	RGD:1350188	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies | ClinVar Annotator: match by term: SEC31A-related condition	PMID:25741868
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:1115	sarcoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:1324	lung cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:1909	melanoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1350188	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102771	SEC31A	SEC31 homolog A, COPII coat complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: rod-cone dystrophy	PMID:18203199
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0060058	lymphoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:7240710	20180130	OMIM			
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:0110127	Bardet-Biedl syndrome 5		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 5 | ClinVar Annotator: match by term: BBS5-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 5	PMID:11342895|PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:18203199|PMID:19367329|PMID:21052717|PMID:21209035|PMID:22626039|PMID:22773737|PMID:24400638|PMID:25525159|PMID:25741868|PMID:26325687|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30614526|PMID:30718709|PMID:31456290|PMID:31760295|PMID:31964843|PMID:32451492|PMID:32641690|PMID:33572860|PMID:35835773|PMID:38219857|PMID:38576124|PMID:9536098
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15137946|PMID:25741868|PMID:26325687|PMID:28041643|PMID:29806606
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:1115	sarcoma		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:15137946|PMID:16199547|PMID:16877420|PMID:17576681|PMID:19797195|PMID:21209035|PMID:21344540|PMID:22773737|PMID:24400638|PMID:24559376|PMID:25640679|PMID:25741868|PMID:25982971|PMID:26325687|PMID:26355662|PMID:26766544|PMID:27708425|PMID:28041643|PMID:28492532|PMID:29806606|PMID:30029678|PMID:30614526|PMID:32451492|PMID:32531858|PMID:32811249|PMID:35835773|PMID:36066546|PMID:37240074|PMID:37293956|PMID:37431782|PMID:37510321|PMID:9536098
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:3275	thymoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321789	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:5679	retinal disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:630	genetic disease		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28041643|PMID:28492532|PMID:9536098
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19797195|PMID:25741868|PMID:25982971|PMID:28492532
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102816	BBS5	Bardet-Biedl syndrome 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1321789	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:25741868
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:1909	melanoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1350713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102832	IQGAP2	IQ motif containing GTPase activating protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102872	NUP155	nucleoporin 155	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102872	NUP155	nucleoporin 155	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12102872	NUP155	nucleoporin 155	gene	DOID:10534	stomach cancer		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102872	NUP155	nucleoporin 155	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12102872	NUP155	nucleoporin 155	gene	DOID:1115	sarcoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12102872	NUP155	nucleoporin 155	gene	DOID:1324	lung cancer		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12102872	NUP155	nucleoporin 155	gene	DOID:1909	melanoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102872	NUP155	nucleoporin 155	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102872	NUP155	nucleoporin 155	gene	DOID:3070	high grade glioma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12102872	NUP155	nucleoporin 155	gene	DOID:3275	thymoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102872	NUP155	nucleoporin 155	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12102872	NUP155	nucleoporin 155	gene	DOID:4362	cervical cancer		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102872	NUP155	nucleoporin 155	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12102872	NUP155	nucleoporin 155	gene	DOID:5041	esophageal cancer		ISO	RGD:734441	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12102872	NUP155	nucleoporin 155	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734441	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12102872	NUP155	nucleoporin 155	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12102872	NUP155	nucleoporin 155	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102872	NUP155	nucleoporin 155	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12102872	NUP155	nucleoporin 155	gene	DOID:9000234	Familial Atrial Fibrillation 15		ISO	RGD:734441	D	RGD:7240710	20180130	OMIM			
12102872	NUP155	nucleoporin 155	gene	DOID:9000234	Familial Atrial Fibrillation 15		ISO	RGD:734441	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 15 | ClinVar Annotator: match by term: NUP155-related condition	PMID:25741868|PMID:28492532
12102872	NUP155	nucleoporin 155	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12102872	NUP155	nucleoporin 155	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102872	NUP155	nucleoporin 155	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102872	NUP155	nucleoporin 155	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:0070616	glycine encephalopathy 1		ISO	RGD:1348453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy 1	PMID:25741868
12102911	GCSH	glycine cleavage system protein H	gene	DOID:0070733	multiple mitochondrial dysfunctions syndrome 7		ISO	RGD:1348453	D	RGD:7240710	20230712	OMIM			
12102911	GCSH	glycine cleavage system protein H	gene	DOID:0070733	multiple mitochondrial dysfunctions syndrome 7		ISO	RGD:1348453	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: GCSH-related condition | ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 7	PMID:25741868|PMID:28492532|PMID:33890291|PMID:36190515
12102911	GCSH	glycine cleavage system protein H	gene	DOID:10534	stomach cancer		ISO	RGD:1348453	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:630	genetic disease		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12102911	GCSH	glycine cleavage system protein H	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:1348453	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver:	PMID:7070876|REF_RGD_ID:12904659
12102911	GCSH	glycine cleavage system protein H	gene	DOID:9268	glycine encephalopathy		ISO	RGD:1348453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycine encephalopathy | ClinVar Annotator: match by term: Non-ketotic hyperglycinemia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:33890291|PMID:9536098
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:9001543	Combined Oxidative Phosphorylation Deficiency 58		ISO	RGD:1605945	D	RGD:7240710	20230802	OMIM			
12102920	TEFM	transcription elongation factor, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605945	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:1909	melanoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102929	TBC1D13	TBC1 domain family member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102945	PRICKLE4	prickle planar cell polarity protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102945	PRICKLE4	prickle planar cell polarity protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12102945	PRICKLE4	prickle planar cell polarity protein 4	gene	DOID:3275	thymoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12102945	PRICKLE4	prickle planar cell polarity protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12102945	PRICKLE4	prickle planar cell polarity protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:630	genetic disease		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:9005194	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES		ISO	RGD:1350944	D	RGD:7240710	20190315	OMIM			
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:9005194	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES		ISO	RGD:1350944	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | ClinVar Annotator: match by term: PRUNE1-related condition	PMID:25741868|PMID:26539891|PMID:28334956|PMID:28492532|PMID:33105479
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12102965	PRUNE1	prune exopolyphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12102997	LDLRAD4	low density lipoprotein receptor class A domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12102997	LDLRAD4	low density lipoprotein receptor class A domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1313099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12102997	LDLRAD4	low density lipoprotein receptor class A domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12102997	LDLRAD4	low density lipoprotein receptor class A domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103032	INA	internexin neuronal intermediate filament protein alpha	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:69037	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12103032	INA	internexin neuronal intermediate filament protein alpha	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:10806	D	RGD:9068941	20201211	RGD			PMID:29967576|REF_RGD_ID:27226878
12103032	INA	internexin neuronal intermediate filament protein alpha	gene	DOID:9002189	High Myopia		ISO	RGD:69037	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12103032	INA	internexin neuronal intermediate filament protein alpha	gene	DOID:9005125	Lupus Vasculitis, Central Nervous System	severity	ISO	RGD:69037	D	RGD:9068941	20201204	RGD			PMID:20559547|REF_RGD_ID:40886275
12103039	KCTD16	potassium channel tetramerization domain containing 16	gene	DOID:10534	stomach cancer		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103039	KCTD16	potassium channel tetramerization domain containing 16	gene	DOID:4362	cervical cancer		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103039	KCTD16	potassium channel tetramerization domain containing 16	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1315223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103052	MYEF2	myelin expression factor 2	gene	DOID:1909	melanoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103052	MYEF2	myelin expression factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103052	MYEF2	myelin expression factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103052	MYEF2	myelin expression factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3		ISO	RGD:1319671	D	RGD:7240710	20190315	OMIM			
12103073	CDCA7	cell division cycle associated 7	gene	DOID:0090010	immunodeficiency-centromeric instability-facial anomalies syndrome 3		ISO	RGD:1319671	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CDCA7-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 3	PMID:25741868|PMID:26216346|PMID:28492532
12103073	CDCA7	cell division cycle associated 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319671	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:1324	lung cancer		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:1909	melanoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12103073	CDCA7	cell division cycle associated 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319671	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12103073	CDCA7	cell division cycle associated 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319671	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:1115	sarcoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:3275	thymoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1343635	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1343635	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12103086	EDIL3	EGF like repeats and discoidin domains 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:1612	breast cancer		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:1612	breast cancer		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD		protein:increased protein:mammary gland	PMID:12618338|REF_RGD_ID:7495809
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:219	colon cancer		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1315342	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:brain	PMID:17406030|REF_RGD_ID:1641940
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:brain	PMID:17406030|REF_RGD_ID:1641940
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:11593045|REF_RGD_ID:1302548
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:4362	cervical cancer	treatment	ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:20980434|REF_RGD_ID:7495806
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:5679	retinal disease	treatment	ISO	RGD:1306620	D	RGD:9068941	20200609	RGD			PMID:16805832|REF_RGD_ID:7495810
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9002211	Hyperalgesia	onset	ISO	RGD:1315343	D	RGD:9068941	20200609	RGD			PMID:19427893|REF_RGD_ID:7495807
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315342	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306620	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney, glomerulus	PMID:11473637|REF_RGD_ID:7495813
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1306620	D	RGD:9068941	20200609	RGD			PMID:20550965|REF_RGD_ID:7243113
12103102	MAP2K3	mitogen-activated protein kinase kinase 3	gene	DOID:916	liver benign neoplasm		ISO	RGD:1315342	D	RGD:9068941	20200609	RGD			PMID:24233520|REF_RGD_ID:7495808
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1602678	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103118	DCAKD	dephospho-CoA kinase domain containing	gene	DOID:9256	colorectal cancer		ISO	RGD:1602678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12103126	KRT17	keratin 17	gene	DOID:0050449	pachyonychia congenita		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12103126	KRT17	keratin 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103126	KRT17	keratin 17	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1353171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 4	PMID:25741868
12103126	KRT17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:7240710	20180130	OMIM			
12103126	KRT17	keratin 17	gene	DOID:0111556	steatocystoma multiplex		ISO	RGD:1353171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STEATOCYSTOMA MULTIPLEX | ClinVar Annotator: match by term: Steatocystoma multiplex	PMID:11809119|PMID:11886499|PMID:14714564|PMID:19470054|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:29784039|PMID:31823354|PMID:9008238|PMID:9767294
12103126	KRT17	keratin 17	gene	DOID:2121	ectodermal dysplasia	susceptibility	ISO	RGD:1353171	D	RGD:9068941	20200609	RGD		protein:mutation: ; N92D; pachyonychia congenita, OMIM:167210	PMID:7539673|REF_RGD_ID:1600184
12103126	KRT17	keratin 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103126	KRT17	keratin 17	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1353171	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:20871598|PMID:36428691
12103126	KRT17	keratin 17	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12103126	KRT17	keratin 17	gene	DOID:4362	cervical cancer		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103126	KRT17	keratin 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103126	KRT17	keratin 17	gene	DOID:630	genetic disease		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11809119|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9767294
12103126	KRT17	keratin 17	gene	DOID:9001341	Chloracne		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21237254
12103126	KRT17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:7240710	20190327	OMIM			
12103126	KRT17	keratin 17	gene	DOID:9004213	Pachyonychia Congenita 2		ISO	RGD:1353171	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: KRT17-related condition | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA 2 | ClinVar Annotator: match by term: PACHYONYCHIA CONGENITA, JACKSON-LAWLER TYPE | ClinVar Annotator: match by term: Pachyonychia congenita 2 | ClinVar Annotator: match by term: pachyonychia congenita 2	PMID:11809119|PMID:17576681|PMID:22336949|PMID:24611874|PMID:25741868|PMID:25946540|PMID:26165312|PMID:28492532|PMID:29218738|PMID:31823354|PMID:9536098|PMID:9767294
12103126	KRT17	keratin 17	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1353171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26168014
12103126	KRT17	keratin 17	gene	DOID:9008109	Sebocystomatosis		ISO	RGD:1353171	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sebocystomatosis	PMID:22336949|PMID:25741868|PMID:28492532|PMID:31823354
12103126	KRT17	keratin 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353171	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103139	PCNT	pericentrin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103139	PCNT	pericentrin	gene	DOID:0050591	tooth agenesis		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	
12103139	PCNT	pericentrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103139	PCNT	pericentrin	gene	DOID:0060249	scoliosis		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12103139	PCNT	pericentrin	gene	DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II		ISO	RGD:1317411	D	RGD:7240710	20191002	OMIM			
12103139	PCNT	pericentrin	gene	DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II		ISO	RGD:1317411	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type 2 | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism, type II | ClinVar Annotator: match by term: PCNT-related condition | ClinVar Annotator: match by term: microcephalic osteodysplastic primordial dwarfism type II	PMID:16199547|PMID:17576681|PMID:18174396|PMID:18414213|PMID:19448849|PMID:19643772|PMID:19937158|PMID:21195721|PMID:21270239|PMID:21567919|PMID:22821869|PMID:24033266|PMID:24928221|PMID:25326635|PMID:25363768|PMID:25741868|PMID:27323140|PMID:27900370|PMID:28492532|PMID:29778030|PMID:30214071|PMID:30922925|PMID:31566912|PMID:31785789|PMID:32267100|PMID:32818659|PMID:35568357|PMID:38087044|PMID:9536098
12103139	PCNT	pericentrin	gene	DOID:0070007	Seckel syndrome 1		ISO	RGD:1317411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18157127
12103139	PCNT	pericentrin	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18174396
12103139	PCNT	pericentrin	gene	DOID:10907	microcephaly		ISO	RGD:1317411	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:1115	sarcoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103139	PCNT	pericentrin	gene	DOID:11372	megacolon		ISO	RGD:1317411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12103139	PCNT	pericentrin	gene	DOID:12849	autistic disorder		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:1324	lung cancer		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103139	PCNT	pericentrin	gene	DOID:1340	pure red-cell aplasia		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pure red-cell aplasia	
12103139	PCNT	pericentrin	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868|PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:14250	Down syndrome		ISO	RGD:1317411	D	RGD:9068941	20200609	RGD			PMID:22552340|PMID:23979692|REF_RGD_ID:11537399|REF_RGD_ID:11537404
12103139	PCNT	pericentrin	gene	DOID:1459	hypothyroidism		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
12103139	PCNT	pericentrin	gene	DOID:1591	renovascular hypertension		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renovascular hypertension	
12103139	PCNT	pericentrin	gene	DOID:1909	melanoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103139	PCNT	pericentrin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:2355	anemia		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
12103139	PCNT	pericentrin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
12103139	PCNT	pericentrin	gene	DOID:3275	thymoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103139	PCNT	pericentrin	gene	DOID:4362	cervical cancer		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103139	PCNT	pericentrin	gene	DOID:5041	esophageal cancer		ISO	RGD:1317411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103139	PCNT	pericentrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103139	PCNT	pericentrin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12103139	PCNT	pericentrin	gene	DOID:630	genetic disease		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18174396|PMID:22821869|PMID:25356970|PMID:25741868|PMID:28492532|PMID:34850017
12103139	PCNT	pericentrin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103139	PCNT	pericentrin	gene	DOID:784	chronic kidney disease		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
12103139	PCNT	pericentrin	gene	DOID:8725	vascular dementia		ISO	RGD:1317411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
12103139	PCNT	pericentrin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9000727	Syncope		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9001733	Tinnitus		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9003507	Premature Birth		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12103139	PCNT	pericentrin	gene	DOID:9003539	Hyperacusis		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9005077	Joint Instability		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9005616	Micrognathism		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12103139	PCNT	pericentrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103139	PCNT	pericentrin	gene	DOID:9007736	Vertigo		ISO	RGD:1317411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12103139	PCNT	pericentrin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12103139	PCNT	pericentrin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103139	PCNT	pericentrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1348873	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:1115	sarcoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:1909	melanoma		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1348873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12103192	RASGEF1B	RasGEF domain family member 1B	gene	DOID:9256	colorectal cancer		ISO	RGD:1348873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:736930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9007648	Thrombocytopenia 11		ISO	RGD:736930	D	RGD:7240710	20240110	OMIM			
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9007648	Thrombocytopenia 11		ISO	RGD:736930	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	PMID:12213964|PMID:25303977|PMID:25741868|PMID:25935485|PMID:27993330|PMID:29235861|PMID:32627184|PMID:34272401|PMID:39225097
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103236	RAP1B	RAP1B, member of RAS oncogene family	gene	DOID:9256	colorectal cancer		ISO	RGD:736930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:1324	lung cancer		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:1909	melanoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:9002189	High Myopia		ISO	RGD:1604052	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103247	RABEPK	Rab9 effector protein with kelch motifs	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103281	VPREB3	V-set pre-B cell surrogate light chain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103281	VPREB3	V-set pre-B cell surrogate light chain 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103281	VPREB3	V-set pre-B cell surrogate light chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103281	VPREB3	V-set pre-B cell surrogate light chain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:0060058	lymphoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:1324	lung cancer		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:3070	high grade glioma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352019	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103287	PDE4DIP	phosphodiesterase 4D interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:733159	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103381	DBP	D-box binding PAR bZIP transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103391	PRDM6	PR/SET domain 6	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1350258	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	
12103391	PRDM6	PR/SET domain 6	gene	DOID:1682	congenital heart disease		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12103391	PRDM6	PR/SET domain 6	gene	DOID:630	genetic disease		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27181681
12103391	PRDM6	PR/SET domain 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12103391	PRDM6	PR/SET domain 6	gene	DOID:9007470	Patent Ductus Arteriosus 3		ISO	RGD:1350258	D	RGD:7240710	20190315	OMIM			
12103391	PRDM6	PR/SET domain 6	gene	DOID:9007470	Patent Ductus Arteriosus 3		ISO	RGD:1350258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PATENT DUCTUS ARTERIOSUS 3 | ClinVar Annotator: match by term: PRDM6-related condition | ClinVar Annotator: match by term: Patent ductus arteriosus 3	PMID:25741868|PMID:35108221|PMID:36749647
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy	PMID:15042513|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:0050664	Bietti crystalline corneoretinal dystrophy		ISO	RGD:1312886	D	RGD:7240710	20180130	OMIM			
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:0050664	Bietti crystalline corneoretinal dystrophy		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | ClinVar Annotator: match by term: Bietti Crystalline Dystrophy | ClinVar Annotator: match by term: Bietti crystalline corneoretinal dystrophy | ClinVar Annotator: match by term: CYP4V2-related condition	PMID:15042513|PMID:15860296|PMID:15937078|PMID:16088246|PMID:16179904|PMID:16199547|PMID:17013694|PMID:17962476|PMID:18398705|PMID:21385027|PMID:21565171|PMID:22087103|PMID:22205354|PMID:22497028|PMID:22693542|PMID:22772592|PMID:23221965|PMID:23462753|PMID:23538635|PMID:23661369|PMID:24033266|PMID:24480711|PMID:24739949|PMID:25118264|PMID:25356976|PMID:25525159|PMID:25593508|PMID:25611614|PMID:25741868|PMID:26971461|PMID:27658286|PMID:28051075|PMID:28453600|PMID:28492532|PMID:28512305|PMID:28698241|PMID:28763560|PMID:28848678|PMID:29691984|PMID:29785639|PMID:30429639|PMID:31054281|PMID:31512983|PMID:31589614|PMID:31872526|PMID:31960602|PMID:31964843|PMID:32100970|PMID:32531858|PMID:33090715|PMID:33546218|PMID:33816482|PMID:33964374|PMID:34310258|PMID:34426522|PMID:34923510|PMID:36460718|PMID:36464167
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312886	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24480711|PMID:28041643|PMID:28051075|PMID:28492532|PMID:33090715
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312886	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24480711|PMID:25741868|PMID:28041643|PMID:28492532
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:1115	sarcoma		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:1324	lung cancer		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:1909	melanoma		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:2566	corneal dystrophy		ISO	RGD:1312886	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:15042513|PMID:15937078|PMID:23221965|PMID:24480711|PMID:25741868|PMID:28453600|PMID:28492532|PMID:31872526|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:5679	retinal disease		ISO	RGD:1312886	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:16179904|PMID:24480711|PMID:25741868|PMID:28051075|PMID:28492532|PMID:31960602
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1312886	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:630	genetic disease		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1312886	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15042513|PMID:16179904|PMID:16199547|PMID:22772592|PMID:23221965|PMID:24033266|PMID:25118264|PMID:25356976|PMID:25593508|PMID:25611614|PMID:25629076|PMID:25741868|PMID:26971461|PMID:28051075|PMID:28453600|PMID:28492532|PMID:28848678|PMID:30429639|PMID:31512983|PMID:31872526|PMID:3196484|PMID:31964843|PMID:33090715|PMID:33816482|PMID:34426522|PMID:34923510|PMID:36460718|PMID:38219857
12103422	CYP4V2	cytochrome P450 family 4 subfamily V member 2	gene	DOID:9003137	Photophobia		ISO	RGD:1312886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:28492532
12103515	TDRD6	tudor domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103515	TDRD6	tudor domain containing 6	gene	DOID:12336	male infertility		ISO	RGD:1314293	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Male infertility	
12103515	TDRD6	tudor domain containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103515	TDRD6	tudor domain containing 6	gene	DOID:2843	long QT syndrome		ISO	RGD:1314293	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12103515	TDRD6	tudor domain containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103515	TDRD6	tudor domain containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103515	TDRD6	tudor domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1314293	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103515	TDRD6	tudor domain containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314293	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:0060058	lymphoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:10534	stomach cancer		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:1115	sarcoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:1727	retinal vein occlusion		ISO	RGD:619799	D	RGD:9068941	20200609	RGD			PMID:21487926|REF_RGD_ID:5490120
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:1793	pancreatic cancer		ISO	RGD:1343221	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24604347
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:1909	melanoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:4362	cervical cancer		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:5082	liver cirrhosis		ISO	RGD:1343221	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:39716576
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:5844	myocardial infarction		ISO	RGD:1343221	D	RGD:9068941	20200609	RGD			PMID:17975666|REF_RGD_ID:2314324
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:6039	uveal melanoma		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1343221	D	RGD:9068941	20200609	RGD			PMID:12547729|REF_RGD_ID:1625708
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9000918	Disease Progression		ISO	RGD:1343221	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146280
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9000998	Brain Injuries		ISO	RGD:619799	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:12230324|REF_RGD_ID:1580574
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1622354	D	RGD:9068941	20200609	RGD			PMID:19369214|REF_RGD_ID:2314323
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1622354	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:skeletal muscle	PMID:16816123|REF_RGD_ID:2313725
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1343221	D	RGD:9068941	20250904	CTD		CTD Direct Evidence: marker/mechanism	PMID:11289497
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:1622354	D	RGD:9068941	20200609	RGD			PMID:19369214|REF_RGD_ID:2314323
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1343221	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23146280
12103532	VEGFB	vascular endothelial growth factor B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:1059	intellectual disability		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:32778825
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:11830	myopia		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17304052|PMID:25333069|PMID:25689098|PMID:25741868|PMID:28492532
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:12849	autistic disorder		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:1826	epilepsy		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:32778825|PMID:33432785
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:1909	melanoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:34544473|PMID:34869113|PMID:35154245
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:630	genetic disease		ISO	RGD:1344764	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16857760|PMID:17304052|PMID:24635911|PMID:25741868|PMID:28492532|PMID:30612563|PMID:32778825|PMID:33432785|PMID:34544473|PMID:34869113|PMID:35154245
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1344764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn errors of metabolism	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9000918	Disease Progression		ISO	RGD:1344764	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:7240710	20180130	OMIM			
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9004345	Isobutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:1344764	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACAD8 DEFICIENCY | ClinVar Annotator: match by term: Deficiency of isobutyryl-CoA dehydrogenase | ClinVar Annotator: match by term: ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY	PMID:12359132|PMID:15505379|PMID:16199547|PMID:16857760|PMID:17304052|PMID:17576681|PMID:17924841|PMID:24635911|PMID:25741868|PMID:28053874|PMID:28492532|PMID:30253142|PMID:30626930|PMID:31813752|PMID:32778825|PMID:33432785|PMID:34544473|PMID:35154245|PMID:36662638|PMID:38784038|PMID:9536098
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:32778825
12103546	ACAD8	acyl-CoA dehydrogenase family member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344764	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103561	ZNF205	zinc finger protein 205	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103561	ZNF205	zinc finger protein 205	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1312095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12103561	ZNF205	zinc finger protein 205	gene	DOID:1909	melanoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103561	ZNF205	zinc finger protein 205	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103561	ZNF205	zinc finger protein 205	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103579	FLNB	filamin B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103579	FLNB	filamin B	gene	DOID:0050581	brachydactyly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
12103579	FLNB	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
12103579	FLNB	filamin B	gene	DOID:0050680	Boomerang dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BOOMERANG DYSPLASIA | ClinVar Annotator: match by term: Boomerang dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12103579	FLNB	filamin B	gene	DOID:0060564	spinal disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		spondylocarpotarsal syndrome,OMIM:272460;DNA:frameshift:6408delC,DNA:point mutation:exons:R818X,R1607X	PMID:14991055|REF_RGD_ID:1601168
12103579	FLNB	filamin B	gene	DOID:0070297	primary microcephaly		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		Larsen syndrome,OMIM:150250;DNA:point mutation:exon:F161C	PMID:14991055|REF_RGD_ID:1601168
12103579	FLNB	filamin B	gene	DOID:0080006	bone development disease		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		boomerang dysplasia, OMIM:112310;DNA:point mutation:exon:L171R,S235P	PMID:15994868|REF_RGD_ID:1601170
12103579	FLNB	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders	PMID:14991055|PMID:16648377|PMID:16801345|PMID:17576681|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:34491919|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:21620354|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:0080096	myofibrillar myopathy 5		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FLNB-Related Disorders | ClinVar Annotator: match by term: Myofibrillar myopathy 5	PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:25741868
12103579	FLNB	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
12103579	FLNB	filamin B	gene	DOID:0090116	spondylocarpotarsal synostosis syndrome		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME | ClinVar Annotator: match by term: Scoliosis, congenital with unilateral unsegmented bar | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis | ClinVar Annotator: match by term: Spondylocarpotarsal synostosis syndrome | ClinVar Annotator: match by term: VERTEBRAL FUSION WITH CARPAL COALITION	PMID:14991055|PMID:16752402|PMID:16801345|PMID:17576681|PMID:18322662|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26380986|PMID:26491051|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33407338|PMID:38933926|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:10534	stomach cancer		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103579	FLNB	filamin B	gene	DOID:1115	sarcoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103579	FLNB	filamin B	gene	DOID:11836	clubfoot		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus | ClinVar Annotator: match by term: Clubfoot	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
12103579	FLNB	filamin B	gene	DOID:1324	lung cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103579	FLNB	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
12103579	FLNB	filamin B	gene	DOID:14764	Larsen syndrome		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: LARSEN SYNDROME | ClinVar Annotator: match by term: Larsen syndrome	PMID:14991055|PMID:16648377|PMID:16752402|PMID:16801345|PMID:18322662|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:27048506|PMID:28229453|PMID:28492532|PMID:29566257|PMID:30712878|PMID:31836586|PMID:33255942|PMID:34557487
12103579	FLNB	filamin B	gene	DOID:1909	melanoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103579	FLNB	filamin B	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:3070	high grade glioma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103579	FLNB	filamin B	gene	DOID:3275	thymoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103579	FLNB	filamin B	gene	DOID:4362	cervical cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103579	FLNB	filamin B	gene	DOID:5041	esophageal cancer		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:630	genetic disease		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14991055|PMID:16199547|PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:34491919|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:14991055|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:65	connective tissue disease		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:674	cleft palate		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:674	cleft palate	susceptibility	ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		DNA:SNPs::	PMID:20634891|REF_RGD_ID:12791026
12103579	FLNB	filamin B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:9001031	Retrognathia		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
12103579	FLNB	filamin B	gene	DOID:9001383	Atelosteogenesis Type 1		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE I | ClinVar Annotator: match by term: Atelosteogenesis type I | ClinVar Annotator: match by term: SPONDYLOHUMEROFEMORAL HYPOPLASIA | ClinVar Annotator: match by term: Spondylohumerofemoral hypoplasia	PMID:16752402|PMID:16801345|PMID:17576681|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:9536098
12103579	FLNB	filamin B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:9003279	Joint Dislocations		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
12103579	FLNB	filamin B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12103579	FLNB	filamin B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12103579	FLNB	filamin B	gene	DOID:9004353	Larsen Syndromes		ISO	RGD:1323621	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutations:cds:	PMID:16801345|REF_RGD_ID:12791029
12103579	FLNB	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:7240710	20180130	OMIM			
12103579	FLNB	filamin B	gene	DOID:9004436	Atelosteogenesis Type 3		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ATELOSTEOGENESIS, TYPE III | ClinVar Annotator: match by term: Atelosteogenesis type III	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:9004979	Knee Dislocation		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital knee dislocation | ClinVar Annotator: match by term: Knee dislocation	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878|PMID:31836586|PMID:34491919
12103579	FLNB	filamin B	gene	DOID:9005077	Joint Instability		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:16752402|PMID:22190451|PMID:25741868|PMID:28492532
12103579	FLNB	filamin B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12103579	FLNB	filamin B	gene	DOID:9005616	Micrognathism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:9006120	Absent Patella		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patella aplasia/hypoplasia	PMID:25741868|PMID:28492532|PMID:31836586|PMID:34491919
12103579	FLNB	filamin B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103579	FLNB	filamin B	gene	DOID:9007661	Dwarfism		ISO	RGD:1323621	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16752402|PMID:16801345|PMID:19085972|PMID:20301736|PMID:22190451|PMID:25741868|PMID:26491051|PMID:28492532|PMID:30712878
12103579	FLNB	filamin B	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	
12103579	FLNB	filamin B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12103579	FLNB	filamin B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103641	STX6	syntaxin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103641	STX6	syntaxin 6	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:731983	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23516525
12103641	STX6	syntaxin 6	gene	DOID:10534	stomach cancer		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103641	STX6	syntaxin 6	gene	DOID:1909	melanoma		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103641	STX6	syntaxin 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103641	STX6	syntaxin 6	gene	DOID:5041	esophageal cancer		ISO	RGD:731983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103641	STX6	syntaxin 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103641	STX6	syntaxin 6	gene	DOID:678	progressive supranuclear palsy		ISO	RGD:731983	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21685912
12103641	STX6	syntaxin 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103641	STX6	syntaxin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103653	ENDOG	endonuclease G	gene	DOID:2316	brain ischemia		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:18568342|REF_RGD_ID:9685367
12103653	ENDOG	endonuclease G	gene	DOID:6000	congestive heart failure		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD		mRNa:decreased expression:heart:	PMID:17292393|REF_RGD_ID:9685393
12103653	ENDOG	endonuclease G	gene	DOID:767	muscular atrophy		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:15650125|REF_RGD_ID:9685359
12103653	ENDOG	endonuclease G	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD			PMID:16689664|REF_RGD_ID:8655990
12103653	ENDOG	endonuclease G	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1310763	D	RGD:9068941	20241114	RGD			PMID:20077427|REF_RGD_ID:9685392
12103653	ENDOG	endonuclease G	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1310763	D	RGD:9068941	20200609	RGD		protein:decreased expression:mitochondrion:	PMID:22509279|REF_RGD_ID:9685364
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103660	OXNAD1	oxidoreductase NAD binding domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:10534	stomach cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:1324	lung cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:1909	melanoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:3070	high grade glioma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:4362	cervical cancer		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103699	PPM1H	protein phosphatase, Mg2+/Mn2+ dependent 1H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:0080820	occupational asthma	treatment	ISO	RGD:1342704	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3128935(human)	PMID:24709764|REF_RGD_ID:13506912
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:1909	melanoma		ISO	RGD:1342704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342704	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:3070	high grade glioma		ISO	RGD:1342704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:3275	thymoma		ISO	RGD:1342704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:409	liver disease		ISO	RGD:3477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342704	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103713	DLA-DOA	HLA class II histocompatibility antigen, DO alpha chain-like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1342704	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:0050855	renal fibrosis		ISO	RGD:731400	D	RGD:9068941	20200609	RGD			PMID:22015440|REF_RGD_ID:13703100
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:0060180	colitis		ISO	RGD:731400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24548422
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:0061192	neonatal inflammatory skin and bowel disease 1		ISO	RGD:731400	D	RGD:7240710	20180130	OMIM			
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:0061192	neonatal inflammatory skin and bowel disease 1		ISO	RGD:731400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAM17-related condition | ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal 1 | ClinVar Annotator: match by term: Inflammatory skin and bowel disease, neonatal, 1	PMID:16199547|PMID:17576681|PMID:22010916|PMID:25640679|PMID:25741868|PMID:25804906|PMID:28492532|PMID:31060243|PMID:35960392|PMID:9536098
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:10534	stomach cancer		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:10652	Alzheimer's disease		ISO	RGD:620404	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex, hippocampus	PMID:24792732|REF_RGD_ID:13703037
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:731400	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.R215I (rs142946965) (human)	PMID:29988083|REF_RGD_ID:13782143
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:1324	lung cancer		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:620404	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:20621845|REF_RGD_ID:5129489
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:3275	thymoma		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:3310	atopic dermatitis		ISO	RGD:731401	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:399	tuberculosis		ISO	RGD:731400	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Mycobacterium tuberculosis, susceptibility to | ClinVar Annotator: match by term: tuberculosis	PMID:25741868
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:5041	esophageal cancer		ISO	RGD:731400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:5199	ureteral obstruction		ISO	RGD:731401	D	RGD:9068941	20200609	RGD			PMID:24103556|REF_RGD_ID:13703030
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:620404	D	RGD:9068941	20200609	RGD		associated with pulmonary hypertension	PMID:22628376|REF_RGD_ID:13703064
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:630	genetic disease		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:11884025|REF_RGD_ID:632022
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:24491581|REF_RGD_ID:13703038
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9000972	Fever		ISO	RGD:731400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fever	PMID:22010916
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:23897050|REF_RGD_ID:13703039
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:15878627|REF_RGD_ID:1559178
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:620404	D	RGD:9068941	20200609	RGD		associated with hypertension	PMID:23850346|REF_RGD_ID:13703040
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:22230263|REF_RGD_ID:13703065
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:620404	D	RGD:9068941	20200609	RGD			PMID:22015440|REF_RGD_ID:13703100
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9008110	Blister		ISO	RGD:731400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19167455
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9009424	hypotrichosis 16		ISO	RGD:731400	D	RGD:7240710	20260311	OMIM			
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9009424	hypotrichosis 16		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis 16	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731400	D	RGD:9068941	20200609	RGD		protein:increased activity:artery smooth muscle	PMID:19581416|REF_RGD_ID:2313250
12103722	ADAM17	ADAM metallopeptidase domain 17	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731400	D	RGD:9068941	20200609	RGD		protein:increased activity:skeletal muscle tissue	PMID:19633828|REF_RGD_ID:2312470
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:0060058	lymphoma		ISO	RGD:1603642	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:10534	stomach cancer		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:1115	sarcoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:1324	lung cancer		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:1909	melanoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:3275	thymoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:5041	esophageal cancer		ISO	RGD:1603642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103756	CCDC93	coiled-coil domain containing 93	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:36819107
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21866095|PMID:21937992|PMID:23532844|PMID:25326637|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31963381|PMID:3196484|PMID:32335874|PMID:32865313|PMID:33879512|PMID:34205586|PMID:34627237|PMID:35087072|PMID:36819107|PMID:37446072|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0060025	immunoglobulin alpha deficiency		ISO	RGD:1348620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27723758
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348620	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype	PMID:18782849|REF_RGD_ID:11537389
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26729329|PMID:26759440|PMID:28041643|PMID:28118669|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:31319225|PMID:32865313|PMID:34906502|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:20301500|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31319225|PMID:32335874|PMID:32865313|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:15467982|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25741913|PMID:25741916|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31624253|PMID:32165824|PMID:32335874|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:36819107|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cerebelloparenchymal disorder 4 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:28976722|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32335874|PMID:32483926|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906502|PMID:35087072|PMID:36819107|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Cerebellooculorenal syndrome 1 | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:16541367|PMID:17377524|PMID:17409309|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21068128|PMID:21228398|PMID:21623382|PMID:21866095|PMID:21937992|PMID:22236771|PMID:22693042|PMID:22773737|PMID:22995991|PMID:23532844|PMID:24033266|PMID:24690944|PMID:25326637|PMID:25356976|PMID:25445212|PMID:25525159|PMID:25616960|PMID:25640679|PMID:25741868|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:26467025|PMID:26541515|PMID:26729329|PMID:26759440|PMID:27434533|PMID:28041643|PMID:28097321|PMID:28118669|PMID:28125082|PMID:28391287|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:28976722|PMID:29186038|PMID:29343940|PMID:30055837|PMID:30755392|PMID:31054281|PMID:31069529|PMID:31319225|PMID:31456290|PMID:31589614|PMID:31624253|PMID:31938409|PMID:3196484|PMID:31964843|PMID:32165824|PMID:32335874|PMID:32483926|PMID:32531858|PMID:32865313|PMID:33879512|PMID:33921607|PMID:34191236|PMID:34205586|PMID:34627237|PMID:34906470|PMID:34906502|PMID:35087072|PMID:36460718|PMID:36648511|PMID:36819107|PMID:37217489|PMID:37734845|PMID:37798099|PMID:38465142|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1348620	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: JOUBERT-BOLTSHAUSER SYNDROME | ClinVar Annotator: match by term: Joubert syndrome 1 | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17576681|PMID:18414213|PMID:21623382|PMID:21866095|PMID:25525159|PMID:25741868|PMID:26092869|PMID:28118669|PMID:28442542|PMID:28492532|PMID:29186038|PMID:31456290|PMID:31589614|PMID:3196484|PMID:32865313|PMID:33879512|PMID:37798099|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:7240710	20180130	OMIM			
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 3 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar Annotator: match by term: Joubert syndrome-3	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21937992|PMID:22236771|PMID:24690944|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:27434533|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:29343940|PMID:29987673|PMID:31130284|PMID:31456290|PMID:31589614|PMID:31624253|PMID:3196484|PMID:32483926|PMID:33879512|PMID:34627237|PMID:34906502|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110998	Joubert syndrome 3		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AHI1-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 3 | ClinVar Annotator: match by term: Joubert syndrome 3 | ClinVar Annotator: match by term: Joubert syndrome-3	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:17576681|PMID:18054307|PMID:18414213|PMID:21623382|PMID:21866095|PMID:21937992|PMID:24690944|PMID:25356976|PMID:25525159|PMID:25741868|PMID:25741869|PMID:25920555|PMID:26035799|PMID:26035800|PMID:26092869|PMID:27434533|PMID:28118669|PMID:28125082|PMID:28431631|PMID:28442542|PMID:28492532|PMID:28497568|PMID:29146704|PMID:29186038|PMID:29343940|PMID:29987673|PMID:31130284|PMID:31456290|PMID:31589614|PMID:31624253|PMID:3196484|PMID:32483926|PMID:33879512|PMID:34627237|PMID:34906502|PMID:9536098
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1317734	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R830W (c.2488C>T) (human)	PMID:17409309|REF_RGD_ID:7246903
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:0111589	COACH syndrome		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome with ocular defect	PMID:16453322|PMID:21623382|PMID:25741868|PMID:26092869|PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348620	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15322546|PMID:16453322|PMID:21866095|PMID:24033266|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28041643|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038|PMID:32165824|PMID:34191236
12103790	AHI1	Abelson helper integration site 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1348620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15322546|PMID:16453322|PMID:21866095|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038|PMID:31456290
12103790	AHI1	Abelson helper integration site 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:16453322|PMID:25741868|PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:10907	microcephaly		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:1115	sarcoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:15322546|PMID:16155189|PMID:16453322|PMID:25741868|PMID:26092869|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:15322546|PMID:16453322|PMID:25445212|PMID:25741868|PMID:26092869|PMID:28431631|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:1826	epilepsy		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizures	PMID:15322546|PMID:16453322|PMID:16541367|PMID:25741868|PMID:28097321|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:1909	melanoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:2786	cerebellar disease		ISO	RGD:1348620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20371615
12103790	AHI1	Abelson helper integration site 1	gene	DOID:3275	thymoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348620	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:5419	schizophrenia		ISO	RGD:1348620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20371615
12103790	AHI1	Abelson helper integration site 1	gene	DOID:5679	retinal disease		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:15322546|PMID:16453322|PMID:28442542|PMID:28492532|PMID:29186038
12103790	AHI1	Abelson helper integration site 1	gene	DOID:5723	optic atrophy		ISO	RGD:1348620	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:18054307|PMID:21228398|PMID:22995991|PMID:25326637|PMID:25356976|PMID:25741868|PMID:26035799|PMID:26035800|PMID:28391287|PMID:28492532|PMID:28976722|PMID:31938409
12103790	AHI1	Abelson helper integration site 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:630	genetic disease		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1348620	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20081859
12103790	AHI1	Abelson helper integration site 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:15322546|PMID:16155189|PMID:16199547|PMID:16453322|PMID:17377524|PMID:18054307|PMID:21068128|PMID:21937992|PMID:25525159|PMID:25616960|PMID:25741868|PMID:26035800|PMID:26092869|PMID:28125082|PMID:28442542|PMID:28492532|PMID:29186038|PMID:30055837|PMID:30755392|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:32865313|PMID:34906470|PMID:36460718|PMID:36648511|PMID:36819107|PMID:37217489|PMID:37734845|PMID:37798099|PMID:38465142
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9004866	Ataxia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26092869|PMID:29146704
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26092869|PMID:29146704
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1348620	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1348620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:26092869|PMID:29146704
12103790	AHI1	Abelson helper integration site 1	gene	DOID:9970	obesity		ISO	RGD:1348620	D	RGD:9068941	20200609	RGD		mRNA:increased expression:vastus lateralis	PMID:20045148|REF_RGD_ID:11537398
12103853	RPSA	ribosomal protein SA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103853	RPSA	ribosomal protein SA	gene	DOID:0110074	arrhythmogenic right ventricular dysplasia 5		ISO	RGD:1615177	D	RGD:9068941	20220825	MouseDO		OMIM:604400	
12103853	RPSA	ribosomal protein SA	gene	DOID:1115	sarcoma		ISO	RGD:1344885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103853	RPSA	ribosomal protein SA	gene	DOID:11446	sciatic neuropathy		ISO	RGD:71026	D	RGD:9068941	20200609	RGD			PMID:19196078|REF_RGD_ID:11041651
12103853	RPSA	ribosomal protein SA	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1615177	D	RGD:9068941	20220825	MouseDO		OMIM:105650 | OMIM:606129 | OMIM:610629 | OMIM:612527 | OMIM:612528 | OMIM:612561 | OMIM:612562 | OMIM:612563 | OMIM:613308 | OMIM:613309 | OMIM:614900 | OMIM:615550 | OMIM:615909	
12103853	RPSA	ribosomal protein SA	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344885	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12103853	RPSA	ribosomal protein SA	gene	DOID:4362	cervical cancer		ISO	RGD:1344885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103853	RPSA	ribosomal protein SA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103853	RPSA	ribosomal protein SA	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:71026	D	RGD:9068941	20200609	RGD			PMID:19196078|REF_RGD_ID:11041651
12103853	RPSA	ribosomal protein SA	gene	DOID:9003735	Splenic Hypoplasia		ISO	RGD:1344885	D	RGD:7240710	20180130	OMIM			
12103853	RPSA	ribosomal protein SA	gene	DOID:9003735	Splenic Hypoplasia		ISO	RGD:1344885	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASPLENIA, ISOLATED CONGENITAL | ClinVar Annotator: match by term: Asplenia, isolated congenital | ClinVar Annotator: match by term: RPSA-related condition	PMID:17576681|PMID:23579497|PMID:25741868|PMID:28492532|PMID:9536098
12103853	RPSA	ribosomal protein SA	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1344885	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
12103853	RPSA	ribosomal protein SA	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344885	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12103853	RPSA	ribosomal protein SA	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103853	RPSA	ribosomal protein SA	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:71026	D	RGD:9068941	20200609	RGD			PMID:20461717|REF_RGD_ID:5686874
12103864	RPN2	ribophorin II	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103864	RPN2	ribophorin II	gene	DOID:10534	stomach cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12103864	RPN2	ribophorin II	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103864	RPN2	ribophorin II	gene	DOID:1909	melanoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103864	RPN2	ribophorin II	gene	DOID:3070	high grade glioma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103864	RPN2	ribophorin II	gene	DOID:3275	thymoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12103864	RPN2	ribophorin II	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12103864	RPN2	ribophorin II	gene	DOID:4362	cervical cancer		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103864	RPN2	ribophorin II	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12103864	RPN2	ribophorin II	gene	DOID:5041	esophageal cancer		ISO	RGD:732277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103864	RPN2	ribophorin II	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:732277	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:25741868|PMID:28492532
12103864	RPN2	ribophorin II	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103864	RPN2	ribophorin II	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12103864	RPN2	ribophorin II	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103864	RPN2	ribophorin II	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:0050811	congenital adrenal hyperplasia		ISO	RGD:1350540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital adrenal hyperplasia	PMID:10455016|PMID:10720067|PMID:10877510|PMID:11243732|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14715827|PMID:14747197|PMID:1515452|PMID:15771555|PMID:1577471|PMID:16176874|PMID:16569739|PMID:19454579|PMID:19470621|PMID:20170344|PMID:20197673|PMID:21282350|PMID:21340163|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22266943|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:27271787|PMID:27426448|PMID:2786493|PMID:28008861|PMID:2843762|PMID:28492532|PMID:29278670|PMID:29595516|PMID:31388123|PMID:31636948|PMID:31801776|PMID:32985417|PMID:33516834|PMID:33547012|PMID:33761789|PMID:33864926|PMID:34483146|PMID:34524979|PMID:34829455|PMID:35032013|PMID:35043964|PMID:35134971|PMID:35178494|PMID:35561789|PMID:35729303|PMID:35990289|PMID:36187111|PMID:36339422|PMID:36589849|PMID:36800681|PMID:37542252|PMID:39020240|PMID:8027220|PMID:8245018|PMID:8396144|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9892022
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:0060043	sexual health disorder		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15890676
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15706422
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:10211	cholelithiasis		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:16381022|REF_RGD_ID:2317619
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD			PMID:18645193|REF_RGD_ID:4846627
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:10824	malignant hypertension		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3142437
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350540	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2456	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord (rat)	PMID:17720801|REF_RGD_ID:4889112
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:11476	osteoporosis		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:17002564|REF_RGD_ID:1625350
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		protein:increased activity:ovary follicle, theca cell (human)	PMID:11739466|REF_RGD_ID:4888511
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:12336	male infertility		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15890676
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:13938	amenorrhea		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:1612	breast cancer		ISO	RGD:1350540	D	RGD:9068941	20250724	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:12631398|REF_RGD_ID:4889142
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:19642097|REF_RGD_ID:2317618
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:25741868
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:1924	hypogonadism		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:3121	gallbladder cancer	susceptibility	ISO	RGD:1350540	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-34T>C rs743572 (human)	PMID:16381022|REF_RGD_ID:2317619
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350540	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868|PMID:34480478
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:630	genetic disease		ISO	RGD:1350540	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15341023
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9000172	17,20-Lyase Deficiency, Isolated		ISO	RGD:1350540	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined complete | ClinVar Annotator: match by term: 17-alpha-hydroxylase/17,20-lyase deficiency, combined partial | ClinVar Annotator: match by term: CYP17A1-related condition	PMID:10720067|PMID:11243732|PMID:11422109|PMID:14671162|PMID:14715825|PMID:14715827|PMID:14747197|PMID:15713706|PMID:16477341|PMID:16569739|PMID:16772352|PMID:16822828|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:1740503|PMID:20170344|PMID:20197673|PMID:21340157|PMID:22087567|PMID:22954317|PMID:23291414|PMID:24140098|PMID:25027547|PMID:25741868|PMID:2650900|PMID:26920256|PMID:28492532|PMID:28870780|PMID:29595516|PMID:3263289|PMID:32784047|PMID:33819959|PMID:35032013|PMID:9435441
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1350540	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9000734	Oligomenorrhea		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9001961	Hyperkalemia		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15538743|PMID:16424004|PMID:16859836|PMID:16998812|PMID:17592021
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CYP21 deficiency	PMID:12466376|PMID:14747197|PMID:25741868|PMID:27426448|PMID:28492532|PMID:34483146|PMID:36589849|PMID:36800681|PMID:9326943|PMID:9601054
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10720067|PMID:14747197|PMID:16199547|PMID:17192295|PMID:20197673|PMID:21966534|PMID:24140098|PMID:25741868|PMID:26980296|PMID:28492532
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9005968	Neuralgia		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17720801
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9006683	Congenital Adrenal Hyperplasia, Type 5		ISO	RGD:1350540	D	RGD:7240710	20180130	OMIM			
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9006683	Congenital Adrenal Hyperplasia, Type 5		ISO	RGD:1350540	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital adrenal hyperplasia type 5 | ClinVar Annotator: match by term: congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	PMID:10455016|PMID:10720067|PMID:10877510|PMID:11243732|PMID:11422109|PMID:11549685|PMID:11549876|PMID:12466376|PMID:12706306|PMID:14671162|PMID:14715827|PMID:14747197|PMID:1515452|PMID:15771555|PMID:1577471|PMID:15844475|PMID:16199547|PMID:16477341|PMID:16483711|PMID:16569739|PMID:16772352|PMID:16849412|PMID:1714904|PMID:17192295|PMID:17379008|PMID:18422032|PMID:19454579|PMID:19470621|PMID:19728179|PMID:19793597|PMID:20170344|PMID:20197673|PMID:21340157|PMID:21340163|PMID:21822006|PMID:21846181|PMID:21966534|PMID:22087567|PMID:22954317|PMID:23291414|PMID:23466679|PMID:24033266|PMID:24140098|PMID:24498484|PMID:2493025|PMID:25741868|PMID:26543560|PMID:26647153|PMID:26920256|PMID:26980296|PMID:27271787|PMID:27426448|PMID:2786493|PMID:28008861|PMID:28130116|PMID:2843762|PMID:28492532|PMID:28870780|PMID:29278670|PMID:29595516|PMID:29858860|PMID:30002216|PMID:30229581|PMID:31464148|PMID:31801776|PMID:31885295|PMID:32215889|PMID:32784047|PMID:33516834|PMID:33547012|PMID:33753170|PMID:33780934|PMID:33864926|PMID:34097983|PMID:34483146|PMID:34524979|PMID:34724156|PMID:34829455|PMID:35032013|PMID:35043964|PMID:35134971|PMID:35729303|PMID:35810428|PMID:35990289|PMID:36339422|PMID:36589849|PMID:36800681|PMID:37316894|PMID:38933733|PMID:38934795|PMID:39020240|PMID:8027220|PMID:8245018|PMID:8287576|PMID:8550762|PMID:9326943|PMID:9601054|PMID:9855540|PMID:9888582|PMID:9892022
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9007456	Female Infertility		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645707
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350540	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:19913079|PMID:34426286
12103887	CYP17A1	cytochrome P450 family 17 subfamily A member 1	gene	DOID:9406	hypopituitarism		ISO	RGD:1350540	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12970278
12103901	C29H8orf34	chromosome 29 C8orf34 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12103901	C29H8orf34	chromosome 29 C8orf34 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103901	C29H8orf34	chromosome 29 C8orf34 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12103901	C29H8orf34	chromosome 29 C8orf34 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103925	TPD52	tumor protein D52	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17875733|PMID:27415467
12103925	TPD52	tumor protein D52	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1315573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
12103943	SCG3	secretogranin III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103943	SCG3	secretogranin III	gene	DOID:1115	sarcoma		ISO	RGD:732003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12103943	SCG3	secretogranin III	gene	DOID:3070	high grade glioma		ISO	RGD:732003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12103943	SCG3	secretogranin III	gene	DOID:5419	schizophrenia		ISO	RGD:732003	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12103943	SCG3	secretogranin III	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:732003	D	RGD:9068941	20230622	RGD		DNA:SNP: :rs3764220 (human)	PMID:21796137|REF_RGD_ID:329853776
12103962	NRSN1	neurensin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103962	NRSN1	neurensin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
12103962	NRSN1	neurensin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0060249	scoliosis		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0060821	syndromic X-linked intellectual disability 14		ISO	RGD:1346078	D	RGD:7240710	20190619	OMIM			
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:0060821	syndromic X-linked intellectual disability 14		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14 | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability 14	PMID:16199547|PMID:17576681|PMID:17704778|PMID:19238151|PMID:22957832|PMID:25741868|PMID:26012578|PMID:28492532|PMID:28708303|PMID:31737052|PMID:9536098
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:1059	intellectual disability		ISO	RGD:1346078	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:12639	pyloric stenosis		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyloric stenosis	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:1826	epilepsy		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:4362	cervical cancer		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:5041	esophageal cancer		ISO	RGD:1346078	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:630	genetic disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:26012578|PMID:26350204|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:850	lung disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346078	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1346078	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17704778
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:17704778|PMID:19238151|PMID:25741868|PMID:28492532|PMID:28708303
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12103970	UPF3B	UPF3B regulator of nonsense mediated mRNA decay	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:1909	melanoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:4362	cervical cancer		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1601937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12103995	SLC38A10	solute carrier family 38 member 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:10283	prostate cancer		ISO	RGD:732248	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:10283	prostate cancer		ISO	RGD:732248	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:732248	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104020	PDE7B	phosphodiesterase 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1324	lung cancer		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:1909	melanoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104042	AP2A1	adaptor related protein complex 2 subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104071	AKIRIN2	akirin 2	gene	DOID:1115	sarcoma		ISO	RGD:1317188	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104071	AKIRIN2	akirin 2	gene	DOID:1324	lung cancer		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104071	AKIRIN2	akirin 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12104071	AKIRIN2	akirin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1307791	D	RGD:9068941	20200609	RGD			PMID:18460465|REF_RGD_ID:2306009
12104071	AKIRIN2	akirin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104080	RDH10	retinol dehydrogenase 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104080	RDH10	retinol dehydrogenase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104080	RDH10	retinol dehydrogenase 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12104080	RDH10	retinol dehydrogenase 10	gene	DOID:9001916	Fetal Death		ISO	RGD:1351497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793605
12104080	RDH10	retinol dehydrogenase 10	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351497	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793605
12104090	TGM5	transglutaminase 5	gene	DOID:0070520	peeling skin syndrome 1		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peeling skin syndrome 1	
12104090	TGM5	transglutaminase 5	gene	DOID:0070521	peeling skin syndrome 2		ISO	RGD:1318367	D	RGD:7240710	20180130	OMIM			
12104090	TGM5	transglutaminase 5	gene	DOID:0070521	peeling skin syndrome 2		ISO	RGD:1318367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acral peeling skin syndrome | ClinVar Annotator: match by term: PEELING SKIN SYNDROME 2 | ClinVar Annotator: match by term: Peeling skin syndrome 2 | ClinVar Annotator: match by term: TGM5-related condition	PMID:20164844|PMID:21469335|PMID:24628291|PMID:25644735|PMID:25741868|PMID:26091878|PMID:26925801|PMID:28492532|PMID:29242947
12104090	TGM5	transglutaminase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104090	TGM5	transglutaminase 5	gene	DOID:1205	allergic disease		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:24628291|PMID:25644735
12104090	TGM5	transglutaminase 5	gene	DOID:630	genetic disease		ISO	RGD:1318367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:1909	melanoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104110	SSH2	slingshot protein phosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:1324	lung cancer		ISO	RGD:736780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:3602	toxic encephalopathy		ISO	RGD:736780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104128	P2RX1	purinergic receptor P2X 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104160	GLTPD2	glycolipid transfer protein domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104170	DNLZ	DNL-type zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104170	DNLZ	DNL-type zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2289758	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104200	SULT4A1	sulfotransferase family 4A member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12104200	SULT4A1	sulfotransferase family 4A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104200	SULT4A1	sulfotransferase family 4A member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104200	SULT4A1	sulfotransferase family 4A member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:1115	sarcoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:3275	thymoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104211	CTNNAL1	catenin alpha like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596469|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26148514|PMID:26446091|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27441201|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30478917|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31780880|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy | ClinVar Annotator: match by term: developmental encephalopathy with epilepsy	PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0050843	oromandibular dystonia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular dystonia	PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736657	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060249	scoliosis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:736657	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35906921|PMID:4055306|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35906921|PMID:4055306|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 11	PMID:11175290|PMID:11572947|PMID:11784811|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17475800|PMID:17872363|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19344764|PMID:19380078|PMID:19453707|PMID:20437616|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25326637|PMID:25533962|PMID:25590979|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26704558|PMID:26993267|PMID:2753503|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28628100|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28867141|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29390993|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29720203|PMID:29760947|PMID:29852413|PMID:30109124|PMID:30126342|PMID:30478917|PMID:30776697|PMID:31019026|PMID:31152295|PMID:31199083|PMID:31418850|PMID:31780880|PMID:31832524|PMID:32139178|PMID:32165824|PMID:32179837|PMID:32184343|PMID:32573669|PMID:32581362|PMID:32712949|PMID:32860008|PMID:32917465|PMID:33336127|PMID:33754465|PMID:34055682|PMID:34120799|PMID:34711204|PMID:35104249|PMID:35642783|PMID:35906921|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:14534157|PMID:17129708|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:21685056|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28038823|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:34426522|PMID:35104249|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:11690625|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25262651|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28038823|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:28973083|PMID:29186148|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:31418850|PMID:31440721|PMID:33057194|PMID:33528536|PMID:3360469|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35982159|PMID:36403551|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:11175290|PMID:11690625|PMID:11784811|PMID:14534157|PMID:14985406|PMID:17129708|PMID:17675531|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24375629|PMID:24586341|PMID:25052858|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28038823|PMID:28133863|PMID:28139826|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28687180|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29263209|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:31418850|PMID:31440721|PMID:33057194|PMID:33528536|PMID:3360469|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35642783|PMID:35982159|PMID:36403551|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:11175290|PMID:11784811|PMID:18414213|PMID:19380078|PMID:20437616|PMID:21685056|PMID:25262651|PMID:25741868|PMID:25819767|PMID:26467025|PMID:27779742|PMID:27864847|PMID:28038823|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29655203|PMID:30558019|PMID:31152295|PMID:31180159|PMID:31440721|PMID:33057194|PMID:33528536|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35642783|PMID:35982159|PMID:36403551
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080462	developmental and epileptic encephalopathy 7		ISO	RGD:736657	D	RGD:7240710	20180130	OMIM			
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080462	developmental and epileptic encephalopathy 7		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 7 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 7 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 7 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 7 | ClinVar Annotator: match by term: KCNQ2-Related Neonatal Epileptic Encephalopathy	PMID:10482260|PMID:11572947|PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16199547|PMID:16691402|PMID:16916607|PMID:17129708|PMID:17435769|PMID:17576681|PMID:18353052|PMID:18414213|PMID:19559753|PMID:20437616|PMID:21937445|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23291709|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24848745|PMID:25052858|PMID:25092550|PMID:25262651|PMID:25473036|PMID:25533962|PMID:25566516|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26467025|PMID:26544041|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27734276|PMID:27779742|PMID:27864847|PMID:28133863|PMID:28492532|PMID:28503627|PMID:28631195|PMID:28717674|PMID:28867141|PMID:28926830|PMID:28973083|PMID:29056246|PMID:29215089|PMID:29314583|PMID:29314763|PMID:29644095|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30174244|PMID:30182498|PMID:30440138|PMID:30478917|PMID:30552426|PMID:30776697|PMID:31105003|PMID:31164858|PMID:31199083|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:32139178|PMID:32179837|PMID:32532640|PMID:32585800|PMID:32712949|PMID:32770121|PMID:32863083|PMID:32917465|PMID:32942014|PMID:33333793|PMID:33659638|PMID:33726816|PMID:33860439|PMID:34015165|PMID:34120799|PMID:34580403|PMID:34711204|PMID:35269516|PMID:35377796|PMID:35468861|PMID:35557555|PMID:35770094|PMID:35856407|PMID:36801247|PMID:36849527|PMID:38221827|PMID:38241158|PMID:39814994|PMID:39832895|PMID:9425895|PMID:9430594|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:736657	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10482260|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22013194|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24904429|PMID:25052858|PMID:25326635|PMID:25533962|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26073431|PMID:26138355|PMID:26467025|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27054081|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:28687180|PMID:28717674|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29383681|PMID:29390993|PMID:29655203|PMID:29720203|PMID:29726930|PMID:29933521|PMID:30126342|PMID:30185235|PMID:30866059|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31418850|PMID:32165824|PMID:32179837|PMID:32362866|PMID:32488064|PMID:32581362|PMID:32860008|PMID:32917465|PMID:3360469|PMID:33659638|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35468861|PMID:35557555|PMID:35701389|PMID:35770094|PMID:35906921|PMID:36539902|PMID:36849527|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:27989324|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35906921|PMID:36380967|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10684873|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17290276|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:19822871|PMID:20119593|PMID:20437616|PMID:20805988|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23166088|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23453664|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:23959892|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24811917|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25607374|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25921748|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26030193|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27054081|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30866059|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33098118|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33811133|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35813072|PMID:35906921|PMID:36380967|PMID:36403551|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:38160512|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9836639|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy | ClinVar Annotator: match by term: RYR3-related Epileptic encephalopathy	PMID:10363917|PMID:10482260|PMID:10684873|PMID:10774989|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14985406|PMID:15030501|PMID:15596769|PMID:16039833|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16597729|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17053194|PMID:17129708|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17872363|PMID:17993630|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:18625963|PMID:19344764|PMID:19380078|PMID:19453707|PMID:19464834|PMID:19559753|PMID:20119593|PMID:20437616|PMID:21685056|PMID:21937445|PMID:22169383|PMID:22275249|PMID:22455920|PMID:22926866|PMID:23271449|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23797855|PMID:23849776|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24371303|PMID:24375629|PMID:24463883|PMID:24586341|PMID:24759409|PMID:24848745|PMID:25046240|PMID:25052858|PMID:25262651|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25590979|PMID:25640679|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25951140|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26138355|PMID:26446091|PMID:26467025|PMID:26469389|PMID:26544041|PMID:26704558|PMID:26758118|PMID:26795593|PMID:26993267|PMID:27030113|PMID:27334371|PMID:2753503|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27781031|PMID:27861786|PMID:27864847|PMID:27888506|PMID:27905566|PMID:28133863|PMID:28139826|PMID:28283543|PMID:28399683|PMID:28420012|PMID:2847176|PMID:28492532|PMID:28503627|PMID:28602030|PMID:28628100|PMID:28631195|PMID:28687180|PMID:28717674|PMID:28733343|PMID:28837158|PMID:28867141|PMID:28926830|PMID:28940419|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29190809|PMID:29215089|PMID:29263209|PMID:29286351|PMID:29314763|PMID:29358611|PMID:29383681|PMID:29390993|PMID:29429461|PMID:29455050|PMID:29588952|PMID:29644095|PMID:29655203|PMID:29694806|PMID:29720203|PMID:29726930|PMID:29760947|PMID:29852413|PMID:29933521|PMID:30109124|PMID:30126342|PMID:30174244|PMID:30182498|PMID:30185235|PMID:30440138|PMID:30459225|PMID:30478917|PMID:30552426|PMID:30776697|PMID:30945278|PMID:30977854|PMID:31019026|PMID:31069529|PMID:31152295|PMID:31164858|PMID:31199083|PMID:31295832|PMID:31302675|PMID:31418850|PMID:31440733|PMID:31512412|PMID:31552204|PMID:31564432|PMID:31780880|PMID:31832524|PMID:31957018|PMID:32139178|PMID:32179837|PMID:32184343|PMID:32362866|PMID:32488064|PMID:32573669|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32860008|PMID:32917465|PMID:32942014|PMID:33098118|PMID:33333793|PMID:33336127|PMID:3360469|PMID:33659638|PMID:33754465|PMID:33811133|PMID:33860439|PMID:33897753|PMID:33935161|PMID:34020651|PMID:34055682|PMID:34120799|PMID:34136434|PMID:34354098|PMID:34395220|PMID:34474328|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35377796|PMID:35401395|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35701389|PMID:35770094|PMID:35813072|PMID:35906921|PMID:36380967|PMID:36403551|PMID:36539902|PMID:36849527|PMID:37593999|PMID:38074073|PMID:38160512|PMID:39825153|PMID:4055306|PMID:9425895|PMID:9536098|PMID:9836639|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:14534157|PMID:16199547|PMID:17576681|PMID:17675531|PMID:19559753|PMID:23360469|PMID:23692823|PMID:24375629|PMID:25533962|PMID:25640679|PMID:25880994|PMID:25951140|PMID:25959266|PMID:25982755|PMID:26758118|PMID:27535030|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28867141|PMID:28940419|PMID:29056246|PMID:29215089|PMID:29314763|PMID:29655203|PMID:31199083|PMID:31302675|PMID:31418850|PMID:32179837|PMID:32488064|PMID:32712949|PMID:9425895|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:10376	amblyopia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:34354098|PMID:34395220
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:20437616|PMID:21937445|PMID:22275249|PMID:22926866|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23934111|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27989324|PMID:28139826|PMID:28492532|PMID:28602030|PMID:28628100|PMID:28867141|PMID:29190809|PMID:30185235|PMID:31418850|PMID:32362866|PMID:32860008|PMID:33754465|PMID:34354098|PMID:34395220|PMID:35104249|PMID:35701389
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1059	intellectual disability		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:25818041|PMID:27535030|PMID:28492532|PMID:28602030|PMID:29215089|PMID:35701389
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1068	juvenile glaucoma		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:25741868
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:10907	microcephaly		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1115	sarcoma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11782	astigmatism		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11830	myopia		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11832	visual epilepsy		ISO	RGD:736657	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602407
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12215	oligohydramnios		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25533962|PMID:25741868|PMID:28492532|PMID:28867141
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:14264	benign neonatal seizures		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign neonatal seizures | ClinVar Annotator: match by term: Neonatal seizure	PMID:18625963|PMID:19464834|PMID:25982755|PMID:28492532|PMID:9425895
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1682	congenital heart disease		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:25741868
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1824	status epilepticus		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17475800|PMID:18414213|PMID:18483067|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22013194|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23708187|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:24904429|PMID:25533962|PMID:25740509|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26795593|PMID:27334371|PMID:27466704|PMID:27535030|PMID:27602407|PMID:27779742|PMID:28399683|PMID:28492532|PMID:28717674|PMID:28867141|PMID:29056246|PMID:29263209|PMID:29383681|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31152295|PMID:31199083|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:9425895|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31552204|PMID:32362866|PMID:32860008|PMID:3360469|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:11690625|PMID:12754513|PMID:14534157|PMID:14985406|PMID:17576681|PMID:20119593|PMID:20437616|PMID:21937445|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24107868|PMID:24318194|PMID:25052858|PMID:25533962|PMID:25741868|PMID:25818041|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26795593|PMID:26993267|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28867141|PMID:29056246|PMID:29655203|PMID:29720203|PMID:30185235|PMID:31199083|PMID:31418850|PMID:31552204|PMID:32362866|PMID:32860008|PMID:33098118|PMID:3360469|PMID:33754465|PMID:34354098|PMID:34395220|PMID:34711204|PMID:35104249|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizures	PMID:11690625|PMID:12742592|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17129708|PMID:17576681|PMID:20119593|PMID:20437616|PMID:22275249|PMID:22926866|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24318194|PMID:24848745|PMID:25052858|PMID:25326635|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26795593|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27564677|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27905566|PMID:28133863|PMID:28492532|PMID:28503627|PMID:28717674|PMID:29158550|PMID:29215089|PMID:29314763|PMID:29455050|PMID:29655203|PMID:30126342|PMID:30185235|PMID:30552426|PMID:31105003|PMID:31199083|PMID:31418850|PMID:32005694|PMID:32362866|PMID:32532640|PMID:32770121|PMID:33098118|PMID:33333793|PMID:3360469|PMID:33860439|PMID:34354098|PMID:34395220|PMID:34474328|PMID:35104249|PMID:35377796|PMID:35401395|PMID:37593999|PMID:38074073|PMID:39825153|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1826	epilepsy		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure | ClinVar Annotator: match by term: seizures	PMID:11690625|PMID:12742592|PMID:14534157|PMID:14985406|PMID:16039833|PMID:17576681|PMID:17675531|PMID:20119593|PMID:20437616|PMID:22275249|PMID:23360469|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24318194|PMID:24848745|PMID:25741868|PMID:25880994|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26795593|PMID:27479843|PMID:27779742|PMID:27864847|PMID:28133863|PMID:28399683|PMID:28492532|PMID:28503627|PMID:29056246|PMID:29158550|PMID:2921508|PMID:29314763|PMID:29655203|PMID:30008368|PMID:30552426|PMID:31105003|PMID:31199083|PMID:31418850|PMID:32005694|PMID:32532640|PMID:32593896|PMID:32770121|PMID:32863083|PMID:33098118|PMID:33333793|PMID:3360469|PMID:33860439|PMID:35104249|PMID:35377796|PMID:35627257|PMID:39003674|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:20437616|PMID:24848745|PMID:25262651|PMID:25741868|PMID:25880994|PMID:27535030|PMID:27864847|PMID:28133863|PMID:28492532|PMID:28973083|PMID:29186148|PMID:29655203|PMID:31418850|PMID:31440721|PMID:32179837|PMID:32581362|PMID:33057194|PMID:33528536|PMID:33726816|PMID:33860439|PMID:35104249|PMID:35982159|PMID:36403551|PMID:37541188
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:1969	cerebral palsy		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17576681|PMID:25741868|PMID:28133863|PMID:28492532|PMID:35377796|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2030	anxiety disorder		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2234	focal epilepsy		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:23934111|PMID:25741868|PMID:25982755|PMID:27479843|PMID:28492532|PMID:31105003|PMID:9425895
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2340	craniosynostosis		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:255	hemangioma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:2841	asthma		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:3070	high grade glioma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:736657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Benign Rolandic epilepsy	PMID:18625963
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:4667	kyphosis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:480	movement disease		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16916607|PMID:25741868|PMID:26544041|PMID:27602407|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:4989	pancreatitis		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:540	strabismus		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:543	dystonia		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:630	genetic disease		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10363917|PMID:10684873|PMID:11175290|PMID:11572947|PMID:11690625|PMID:11784811|PMID:12742592|PMID:14534157|PMID:14985406|PMID:17227916|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18483067|PMID:18515377|PMID:19380078|PMID:19453707|PMID:20119593|PMID:20437616|PMID:21685056|PMID:22275249|PMID:22455920|PMID:23360469|PMID:23440208|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:24318194|PMID:24375629|PMID:24586341|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26138355|PMID:26467025|PMID:26704558|PMID:26993267|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27888506|PMID:28038823|PMID:28133863|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:29056246|PMID:29261713|PMID:29263209|PMID:29314763|PMID:29655203|PMID:30552426|PMID:30558019|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31199083|PMID:31418850|PMID:31628766|PMID:31780880|PMID:32770121|PMID:32917465|PMID:33333793|PMID:3360469|PMID:34426522|PMID:35104249|PMID:36035117|PMID:37405542|PMID:38241158|PMID:39814994|PMID:9425895|PMID:9836639|PMID:9872318
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:630	genetic disease		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10363917|PMID:10684873|PMID:11175290|PMID:11572947|PMID:11784811|PMID:12742592|PMID:14534157|PMID:17227916|PMID:17475800|PMID:17872363|PMID:18353052|PMID:18414213|PMID:18515377|PMID:19380078|PMID:20437616|PMID:21685056|PMID:22275249|PMID:23360469|PMID:23440208|PMID:23692823|PMID:23708187|PMID:23934111|PMID:24107868|PMID:25046240|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26467025|PMID:27479843|PMID:27602407|PMID:27779742|PMID:27861786|PMID:27864847|PMID:27888506|PMID:28038823|PMID:28133863|PMID:28283543|PMID:28399683|PMID:28492532|PMID:28686619|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29261713|PMID:29314763|PMID:29655203|PMID:30440138|PMID:30552426|PMID:30558019|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31199083|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:31628766|PMID:31780880|PMID:32139178|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:33659638|PMID:33726816|PMID:34426522|PMID:35104249|PMID:35982159|PMID:36035117|PMID:36403551|PMID:37405542|PMID:38241158|PMID:39814994|PMID:9836639
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:863	nervous system disease		ISO	RGD:736657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20805988
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:8927	learning disability		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28133863|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:736657	D	RGD:7240710	20180130	OMIM			
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9000419	Benign Familial Neonatal Seizures, 1		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign familial neonatal seizures 1 | ClinVar Annotator: match by term: EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA | ClinVar Annotator: match by term: KCNQ2-related condition | ClinVar Annotator: match by term: KCNQ2-related disorder | ClinVar Annotator: match by term: SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 1	PMID:10323247|PMID:10482260|PMID:10774989|PMID:11175290|PMID:11690625|PMID:11784811|PMID:12742592|PMID:12754513|PMID:12847176|PMID:14534157|PMID:14669214|PMID:14985406|PMID:15030501|PMID:15178210|PMID:15249611|PMID:15596769|PMID:16199547|PMID:16260777|PMID:16319223|PMID:16686649|PMID:16691402|PMID:16916607|PMID:16966552|PMID:17129708|PMID:17227916|PMID:17475800|PMID:17576681|PMID:17675531|PMID:17993630|PMID:18006581|PMID:18246739|PMID:18353052|PMID:18414213|PMID:18515377|PMID:19380078|PMID:19559753|PMID:19818940|PMID:20437616|PMID:21913284|PMID:21937445|PMID:22275249|PMID:22926866|PMID:23290024|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23708187|PMID:23849776|PMID:23934111|PMID:24318194|PMID:24375629|PMID:25046240|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25819767|PMID:25959266|PMID:25960349|PMID:25982755|PMID:26007637|PMID:26070303|PMID:26073431|PMID:26467025|PMID:26544041|PMID:27479843|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27888506|PMID:28038823|PMID:28133863|PMID:28283543|PMID:28399683|PMID:2847176|PMID:28492532|PMID:28686619|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29215089|PMID:29261713|PMID:29314763|PMID:29429461|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30440138|PMID:30552426|PMID:30558019|PMID:30945278|PMID:31105003|PMID:31152295|PMID:31164858|PMID:31180159|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:32139178|PMID:32411386|PMID:32532640|PMID:32581362|PMID:32613771|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:33659638|PMID:33726816|PMID:34020651|PMID:34426522|PMID:34489640|PMID:34711204|PMID:35104249|PMID:35468861|PMID:35557555|PMID:35571021|PMID:35627257|PMID:35642783|PMID:35982159|PMID:36035117|PMID:36380967|PMID:36403551|PMID:36801247|PMID:36849527|PMID:37405542|PMID:38221827|PMID:38241158|PMID:39814994|PMID:9425895|PMID:9430594|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9001581	Constipation		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:12742592|PMID:23934111|PMID:25741868|PMID:25959266|PMID:26070303|PMID:27479843|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9002563	Gait Ataxia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2	PMID:12742592|PMID:17129708|PMID:28492532|PMID:29314763|PMID:31199083
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:14534157|PMID:23692823|PMID:25741868|PMID:27779742|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004507	Hirsutism		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9004992	Apnea		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868|PMID:28492532
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005077	Joint Instability		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868|PMID:32532640
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:27535030
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22275249|PMID:23934111|PMID:25741868|PMID:27479843|PMID:28133863|PMID:28492532|PMID:31105003|PMID:31623504|PMID:34711204|PMID:35377796|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9006888	Benign Neonatal Epilepsy, 1		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Benign Neonatal Epilepsy 1	PMID:11690625|PMID:12742592|PMID:12754513|PMID:14534157|PMID:14985406|PMID:16916607|PMID:18353052|PMID:20437616|PMID:22275249|PMID:23360469|PMID:23440208|PMID:23621294|PMID:23692823|PMID:23934111|PMID:24318194|PMID:24375629|PMID:25262651|PMID:25740509|PMID:25741868|PMID:25959266|PMID:25982755|PMID:26070303|PMID:26073431|PMID:26467025|PMID:26544041|PMID:27535030|PMID:27602407|PMID:27779742|PMID:27864847|PMID:27888506|PMID:28133863|PMID:28492532|PMID:28717674|PMID:28973083|PMID:29056246|PMID:29186148|PMID:29314763|PMID:29655203|PMID:29726930|PMID:29933521|PMID:30440138|PMID:30552426|PMID:31164858|PMID:31418850|PMID:31440721|PMID:31440733|PMID:31512412|PMID:32139178|PMID:32712949|PMID:32770121|PMID:32917465|PMID:33057194|PMID:33333793|PMID:33528536|PMID:33659638|PMID:33726816|PMID:34711204|PMID:35104249|PMID:35557555|PMID:35627257|PMID:35982159|PMID:36380967|PMID:36403551|PMID:36801247|PMID:38221827|PMID:38241158|PMID:39814994|PMID:9425895
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:12742592|PMID:17576681|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28133863|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007661	Dwarfism		ISO	RGD:736657	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12742592|PMID:23934111|PMID:25741868|PMID:25959266|PMID:26070303|PMID:27479843|PMID:27535030|PMID:28492532|PMID:29215089|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793|PMID:34711204|PMID:35557555|PMID:36801247
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9007722	Myoclonus		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:28492532|PMID:28503627
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12742592|PMID:16916607|PMID:17576681|PMID:23934111|PMID:25741868|PMID:25959266|PMID:26070303|PMID:26544041|PMID:27479843|PMID:27602407|PMID:28133863|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31105003|PMID:31418850|PMID:32770121|PMID:33333793|PMID:35377796|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9008972	Hyperammonemia		ISO	RGD:736657	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperammonemia, type III	PMID:12742592|PMID:25741868|PMID:25959266|PMID:26070303|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:936	brain disease		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:12742592|PMID:14534157|PMID:16199547|PMID:23692823|PMID:25741868|PMID:25959266|PMID:26070303|PMID:27779742|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:12742592|PMID:17576681|PMID:25741868|PMID:25959266|PMID:26070303|PMID:26795593|PMID:28492532|PMID:29314763|PMID:30552426|PMID:31418850|PMID:32770121|PMID:33333793|PMID:9536098
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9840	esotropia		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:23934111|PMID:25741868|PMID:27479843|PMID:31105003
12104248	KCNQ2	potassium voltage-gated channel subfamily Q member 2	gene	DOID:9970	obesity		ISO	RGD:736657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:27535030|PMID:28492532|PMID:29215089
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604607	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:1909	melanoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:3275	thymoma		ISO	RGD:1604607	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104280	TM9SF3	transmembrane 9 superfamily member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104315	AHSP	alpha hemoglobin stabilizing protein	gene	DOID:13133	HELLP syndrome		ISO	RGD:1315507	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:placenta (human)	PMID:18347943|REF_RGD_ID:329956422
12104315	AHSP	alpha hemoglobin stabilizing protein	gene	DOID:3526	cerebral infarction		ISO	RGD:1315507	D	RGD:9068941	20230720	RGD		mRNA:increased expression:venous blood (human)	PMID:29284304|REF_RGD_ID:329961296
12104315	AHSP	alpha hemoglobin stabilizing protein	gene	DOID:4247	coronary restenosis		ISO	RGD:1315507	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:blood (human)	PMID:35144391|REF_RGD_ID:329961301
12104315	AHSP	alpha hemoglobin stabilizing protein	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1315507	D	RGD:9068941	20230720	RGD		mRNA:altered expression: (human)	PMID:35710932|REF_RGD_ID:329961295
12104315	AHSP	alpha hemoglobin stabilizing protein	gene	DOID:9001916	Fetal Death		ISO	RGD:1315507	D	RGD:9068941	20230720	RGD		mRNA, protein:decreased expression:placenta (human)	PMID:18347943|REF_RGD_ID:329956422
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:732889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12104324	TESK1	testis associated actin remodelling kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:1347389	D	RGD:9068941	20230330	RGD		RNA:increased expression:blood serum (human)	PMID:34887365|REF_RGD_ID:242905206
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1347389	D	RGD:9068941	20200609	RGD			PMID:22003392|REF_RGD_ID:10755479
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:3525	middle cerebral artery infarction	exacerbates	ISO	RGD:2325591	D	RGD:9068941	20230330	RGD			PMID:35322553|REF_RGD_ID:242905190
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1347389	D	RGD:9068941	20200609	RGD			PMID:23591808|REF_RGD_ID:13464324
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347389	D	RGD:9068941	20200609	RGD		RNA:increased expression:arteriole	PMID:29374012|REF_RGD_ID:13702880
12104339	MIR29B-1	microRNA mir-29b-1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347389	D	RGD:9068941	20230401	RGD		RNA:increased expression:blood serum (human)	PMID:33116722|REF_RGD_ID:243048436
12104391	DCTN6	dynactin subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104391	DCTN6	dynactin subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104391	DCTN6	dynactin subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104391	DCTN6	dynactin subunit 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12104391	DCTN6	dynactin subunit 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12104391	DCTN6	dynactin subunit 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1314476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14627686
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:674	cleft palate		ISO	RGD:1314476	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104402	INPP1	inositol polyphosphate-1-phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104415	WNT11	Wnt family member 11	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1344477	D	RGD:9068941	20211217	RGD		DNA:SNP:exon: A>G (rs1533767) (human)	PMID:21393552|REF_RGD_ID:150530486
12104415	WNT11	Wnt family member 11	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1344477	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX | ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
12104415	WNT11	Wnt family member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1344477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104415	WNT11	Wnt family member 11	gene	DOID:10892	hypospadias		ISO	RGD:1344477	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12104415	WNT11	Wnt family member 11	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1344477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
12104415	WNT11	Wnt family member 11	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344477	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:increased in a single case	PMID:11712081|REF_RGD_ID:2299947
12104415	WNT11	Wnt family member 11	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1344477	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:increased expression in 4/4 cases with Gleason sum score >= 7, also in progression from androgen-dependence to androgen-independence in xenografts	PMID:15520198|REF_RGD_ID:2299946
12104415	WNT11	Wnt family member 11	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1344477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
12104415	WNT11	Wnt family member 11	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:1344477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25783350
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:0060058	lymphoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:1909	melanoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:3275	thymoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318707	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:7240710	20240327	OMIM			
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:9008448	YUKSEL-VOGEL-BAUER SYNDROME		ISO	RGD:1318707	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLG5-related disorder | ClinVar Annotator: match by term: YUKSEL-VOGEL-BAUER SYNDROME	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104428	DLG5	discs large MAGUK scaffold protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:0070792	Dursun-Ozgul neurodevelopmental syndrome		ISO	RGD:1642766	D	RGD:7240710	20260805	OMIM			
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:0070792	Dursun-Ozgul neurodevelopmental syndrome		ISO	RGD:1642766	D	RGD:8554872	20260804	ClinVar		ClinVar Annotator: match by term: DURSUN-OZGUL NEURODEVELOPMENTAL SYNDROME	PMID:24312227
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12104467	ELFN1	extracellular leucine rich repeat and fibronectin type III domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1642766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12104492	KLHL30	kelch like family member 30	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104492	KLHL30	kelch like family member 30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104492	KLHL30	kelch like family member 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:0060058	lymphoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:1115	sarcoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104504	AP1M1	adaptor related protein complex 1 subunit mu 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:2316	brain ischemia		ISO	RGD:628778	D	RGD:9068941	20200609	RGD			PMID:12205668|REF_RGD_ID:633285
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:3454	brain infarction		ISO	RGD:628778	D	RGD:9068941	20200609	RGD			PMID:15250238|REF_RGD_ID:1582664
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104524	MSI1	musashi RNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:737132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:0070206	familial partial lipodystrophy type 6		ISO	RGD:737132	D	RGD:7240710	20180912	OMIM			
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:10763	hypertension		ISO	RGD:737132	D	RGD:9068941	20200609	RGD		gestational hypertension;DNA:polymorphism:promoter:-60C>G	PMID:17318300|REF_RGD_ID:1625026
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:114	heart disease		ISO	RGD:3010	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18413675|REF_RGD_ID:2313583
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:2349	arteriosclerosis		ISO	RGD:3010	D	RGD:9068941	20200609	RGD			PMID:10064727|REF_RGD_ID:1581868
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:2349	arteriosclerosis		ISO	RGD:737132	D	RGD:9068941	20200609	RGD			PMID:10729384|REF_RGD_ID:1581867
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:3010	D	RGD:9068941	20200609	RGD			PMID:11016888|REF_RGD_ID:2313581
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:10872	D	RGD:9068941	20230427	RGD		mRNA:increased expression:liver (mouse)	PMID:29684438|REF_RGD_ID:329333017
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737132	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:15609025|REF_RGD_ID:2313584
12104553	LIPE	lipase E, hormone sensitive type	gene	DOID:9970	obesity		ISO	RGD:3010	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:white fat	PMID:17712951|REF_RGD_ID:2313580
12104582	ADORA3	adenosine A3 receptor	gene	DOID:0080600	COVID-19		ISO	RGD:735600	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12104582	ADORA3	adenosine A3 receptor	gene	DOID:326	ischemia		ISO	RGD:735600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7774659
12104582	ADORA3	adenosine A3 receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:735600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12160945|PMID:20132822
12104582	ADORA3	adenosine A3 receptor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0050156	idiopathic pulmonary fibrosis	severity	ISO	RGD:1345616	D	RGD:9068941	20251106	RGD		mRNA:increased expression:respiratory bronchiole	PMID:34790776|REF_RGD_ID:629006541
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0050169	cutaneous lupus erythematosus		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:21844117|REF_RGD_ID:6892918
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0060189	ileitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:21945903|REF_RGD_ID:6892917
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0060496	respiratory allergy		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20022477
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0080600	COVID-19		ISO	RGD:1345616	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20485159
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:20022477|REF_RGD_ID:4145619
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:10247	pleurisy		ISO	RGD:733966	D	RGD:9068941	20200609	RGD		associated with Mycobacterium Infections	PMID:17158890|REF_RGD_ID:4145643
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1345616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:18658092|REF_RGD_ID:6893389
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:11382	corneal neovascularization		ISO	RGD:733966	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cornea	PMID:20610836|REF_RGD_ID:6892921
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:12716450|REF_RGD_ID:6893409
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium	PMID:11529927|REF_RGD_ID:4145634
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:1316818|REF_RGD_ID:6893390
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:1485	cystic fibrosis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion, neutrophil	PMID:19017998|REF_RGD_ID:4145632
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:1555	urticaria		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:15721839|REF_RGD_ID:6893392
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:1824	status epilepticus		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19490431
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2043	hepatitis B		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:19185001|REF_RGD_ID:6893388
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2152	ovary epithelial cancer	severity	ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds: (rs4987053) (human)	PMID:20103664|REF_RGD_ID:6893445
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2377	multiple sclerosis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:21427490|REF_RGD_ID:6892919
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2841	asthma		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:51T>C (human)	PMID:20220260|REF_RGD_ID:4145638
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2841	asthma		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion, neutrophil	PMID:19017998|REF_RGD_ID:4145632
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2841	asthma		ISO	RGD:620593	D	RGD:9068941	20200609	RGD			PMID:16978084|REF_RGD_ID:4145646
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2841	asthma		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:17145927|PMID:18699933|PMID:19657453|PMID:20134116|REF_RGD_ID:1601020|REF_RGD_ID:4145618|REF_RGD_ID:4145623|REF_RGD_ID:4145633
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:733966	D	RGD:9068941	20200619	RGD		mRNA:altered expression:lung (mouse)	PMID:15356152|REF_RGD_ID:30309221
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:22075493|REF_RGD_ID:6892916
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion, neutrophil	PMID:19017998|REF_RGD_ID:4145632
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3310	atopic dermatitis		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3310	atopic dermatitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:16449815|REF_RGD_ID:6893391
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16314464
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD		associated with Lung Injury	PMID:16314464|REF_RGD_ID:4145395
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:4483	rhinitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:51T>C (human)	PMID:17135764|REF_RGD_ID:4145111
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:4483	rhinitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:17156343|REF_RGD_ID:4145645
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:4483	rhinitis		ISO	RGD:620593	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nose	PMID:20696593|REF_RGD_ID:4145454
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:4617	periapical granuloma		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:11683586|REF_RGD_ID:6893426
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1345616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10202824
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:552	pneumonia		ISO	RGD:733966	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19762220|REF_RGD_ID:4145622
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:5844	myocardial infarction		ISO	RGD:620593	D	RGD:9068941	20200609	RGD			PMID:18954648|REF_RGD_ID:4890013
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial fluid, neutrophil	PMID:19017998|REF_RGD_ID:4145632
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:19842835|REF_RGD_ID:4145620
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:21077277|REF_RGD_ID:6892920
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:19787232|REF_RGD_ID:6893387
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		associated with Macular Degeneration	PMID:19525930|REF_RGD_ID:6893454
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:19525930|REF_RGD_ID:6893454
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9001371	Eosinophilia		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		associated with Asthma	PMID:17983872|REF_RGD_ID:4145642
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:15034073|REF_RGD_ID:6893394
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:19922414|REF_RGD_ID:6892922
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:21621198|REF_RGD_ID:6893427
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1345616	D	RGD:9068941	20200609	RGD			PMID:21180278|REF_RGD_ID:6893428
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, T cell	PMID:15379987|REF_RGD_ID:6893393
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9471	meningitis		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:19887061|REF_RGD_ID:6892923
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:733966	D	RGD:9068941	20200609	RGD			PMID:20732990|REF_RGD_ID:4145617
12104593	CCR3	C-C motif chemokine receptor 3	gene	DOID:9970	obesity		ISO	RGD:1345616	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adipose tissue	PMID:18492752|REF_RGD_ID:6483834
12104606	CRISP2	cysteine rich secretory protein 2	gene	DOID:11372	megacolon		ISO	RGD:1315322	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12104606	CRISP2	cysteine rich secretory protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1315322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1603307	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism	PMID:25741868
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:1909	melanoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104622	OTUD4	OTU deubiquitinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1603307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349903	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:1115	sarcoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:1324	lung cancer		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104653	ALDH3B1	aldehyde dehydrogenase 3 family member B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104669	UBQLN1	ubiquilin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:0060058	lymphoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:0060207	amyotrophic lateral sclerosis type 16		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 16	PMID:26539891
12104669	UBQLN1	ubiquilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104669	UBQLN1	ubiquilin 1	gene	DOID:1115	sarcoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:3275	thymoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731465	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104669	UBQLN1	ubiquilin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12104669	UBQLN1	ubiquilin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731465	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747970
12104669	UBQLN1	ubiquilin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:10283	prostate cancer		ISO	RGD:1342747	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:10283	prostate cancer		ISO	RGD:1342747	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:10534	stomach cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:1115	sarcoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:1324	lung cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:1909	melanoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:3275	thymoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:4362	cervical cancer		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104688	SAFB2	scaffold attachment factor B2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:10534	stomach cancer		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1115	sarcoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1324	lung cancer		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:1909	melanoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:3275	thymoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104718	PRPS2	phosphoribosyl pyrophosphate synthetase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104735	NUCB2	nucleobindin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104735	NUCB2	nucleobindin 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:620888	D	RGD:9068941	20240127	RGD		mRNA,protein:decreased expression:hippocampus	PMID:37031608|REF_RGD_ID:401959603
12104735	NUCB2	nucleobindin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104735	NUCB2	nucleobindin 2	gene	DOID:1324	lung cancer		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104735	NUCB2	nucleobindin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104735	NUCB2	nucleobindin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104735	NUCB2	nucleobindin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104735	NUCB2	nucleobindin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104735	NUCB2	nucleobindin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12104735	NUCB2	nucleobindin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104735	NUCB2	nucleobindin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104735	NUCB2	nucleobindin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620888	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas:	PMID:20032201|REF_RGD_ID:9831177
12104735	NUCB2	nucleobindin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734220	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:islet of Langerhans:	PMID:22108805|REF_RGD_ID:9831161
12104735	NUCB2	nucleobindin 2	gene	DOID:9970	obesity		ISO	RGD:620888	D	RGD:9068941	20200609	RGD		protein:increased expression:adipose tissue:	PMID:22641054|REF_RGD_ID:9831187
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318553	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:1115	sarcoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:1324	lung cancer		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:1826	epilepsy		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:1909	melanoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:3275	thymoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1318553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:520	aortic disease		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9000165	Neuromuscular Manifestations		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1318553	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs10911205) (human)	PMID:27599772|REF_RGD_ID:401794577
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318553	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9007402	Gliosis		ISO	RGD:1318553	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104757	LAMC1	laminin subunit gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104789	APPBP2	amyloid beta precursor protein binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:28492532
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0050952	spastic ataxia		ISO	RGD:1313772	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:7240710	20180425	OMIM			
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0050981	spinocerebellar ataxia 34		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 34	PMID:15930014|PMID:24566826|PMID:25741868|PMID:28492532|PMID:28559085|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:31692161|PMID:31750392|PMID:32211516|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043|PMID:37787810
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:7240710	20180130	OMIM			
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0061238	Stargardt disease 3		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STARGARDT DISEASE 3 | ClinVar Annotator: match by term: STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Stargardt disease 3	PMID:15557430|PMID:15930014|PMID:24566826|PMID:25741868|PMID:27116512|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516|PMID:33546218|PMID:34073554
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:11155	hypohidrosis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:1588	thrombocytopenia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:1909	melanoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:2566	corneal dystrophy		ISO	RGD:1313772	D	RGD:9068941	20200609	RGD			PMID:11726641|REF_RGD_ID:1598895
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:630	genetic disease		ISO	RGD:1313772	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:83	cataract		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1305630	D	RGD:9068941	20250717	RGD		mRNA:altered expression:retina	PMID:24736612|REF_RGD_ID:617212661
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9000495	Tremor		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tremors	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:7240710	20180130	OMIM			
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9000515	Ichthyosis, Spastic Quadriplegia, and Mental Retardation		ISO	RGD:1313772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION	PMID:11138005|PMID:15930014|PMID:22100072|PMID:23509295|PMID:24566826|PMID:24833735|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31692161|PMID:31750392|PMID:32211516
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9001722	Dysarthria		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9003286	Diplopia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9004484	Sepsis		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9004866	Ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30065956|PMID:30982505|PMID:31105016|PMID:31616255|PMID:32780351|PMID:33556440|PMID:34234304|PMID:34623043
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:963	episodic ataxia		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	
12104806	ELOVL4	ELOVL fatty acid elongase 4	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1313772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12104815	CPA5	carboxypeptidase A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104815	CPA5	carboxypeptidase A5	gene	DOID:10534	stomach cancer		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104815	CPA5	carboxypeptidase A5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12104815	CPA5	carboxypeptidase A5	gene	DOID:5041	esophageal cancer		ISO	RGD:1345322	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104815	CPA5	carboxypeptidase A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104815	CPA5	carboxypeptidase A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104840	API5	apoptosis inhibitor 5	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:1320288	D	RGD:9068941	20200609	RGD		mRNA:increased expression	PMID:10780674|REF_RGD_ID:1643340
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0060251	sclerosteosis		ISO	RGD:731744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0060757	sclerosteosis 2		ISO	RGD:731744	D	RGD:7240710	20180130	OMIM			
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0060757	sclerosteosis 2		ISO	RGD:731744	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCLEROSTEOSIS 2 | ClinVar Annotator: match by term: Sclerosteosis 2	PMID:16199547|PMID:17576681|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:30077757|PMID:31585407|PMID:34857885|PMID:35052419|PMID:9536098
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0090015	Cenani-Lenz syndactyly syndrome		ISO	RGD:731744	D	RGD:7240710	20180130	OMIM			
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0090015	Cenani-Lenz syndactyly syndrome		ISO	RGD:731744	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: Syndactyly type 7	PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:7891385|PMID:9182770|PMID:9536098
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0090015	Cenani-Lenz syndactyly syndrome		ISO	RGD:731744	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cenani syndactylism | ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome	PMID:10756427|PMID:11260233|PMID:12868467|PMID:14577675|PMID:16199547|PMID:17576681|PMID:18978656|PMID:20381006|PMID:21471202|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:34857885|PMID:7891385|PMID:9182770|PMID:9536098
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0090015	Cenani-Lenz syndactyly syndrome		ISO	RGD:731744	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENANI-LENZ SYNDACTYLY SYNDROME | ClinVar Annotator: match by term: Cenani syndactylism | ClinVar Annotator: match by term: Cenani-Lenz syndactyly syndrome | ClinVar Annotator: match by term: SYNDACTYLY, TYPE VII	PMID:16199547|PMID:17576681|PMID:20381006|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25119311|PMID:25741868|PMID:26751728|PMID:28492532|PMID:28559208|PMID:34857885|PMID:9536098
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0110674	congenital myasthenic syndrome 17		ISO	RGD:731744	D	RGD:7240710	20180130	OMIM			
12104864	LRP4	LDL receptor related protein 4	gene	DOID:0110674	congenital myasthenic syndrome 17		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 17 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 17	PMID:16199547|PMID:17576681|PMID:23636941|PMID:24234652|PMID:24924585|PMID:25741868|PMID:28492532|PMID:28559208|PMID:34857885|PMID:9536098
12104864	LRP4	LDL receptor related protein 4	gene	DOID:1059	intellectual disability		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:1115	sarcoma		ISO	RGD:731744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:11193	syndactyly		ISO	RGD:731744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16207730
12104864	LRP4	LDL receptor related protein 4	gene	DOID:12270	coloboma		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:1324	lung cancer		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:1909	melanoma		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:3275	thymoma		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:731744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:731744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731744	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:630	genetic disease		ISO	RGD:731744	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9003748	Thumb Deformity		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:731744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16207730
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9827	radioulnar synostosis		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:25741868
12104864	LRP4	LDL receptor related protein 4	gene	DOID:9849	Meniere's disease		ISO	RGD:731744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868
12104906	INHBB	inhibin subunit beta B	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:2913	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:testes (rat)	PMID:7819453|REF_RGD_ID:9743921
12104906	INHBB	inhibin subunit beta B	gene	DOID:0111545	familial male-limited precocious puberty		ISO	RGD:735395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16684832
12104906	INHBB	inhibin subunit beta B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104906	INHBB	inhibin subunit beta B	gene	DOID:5844	myocardial infarction		ISO	RGD:10810	D	RGD:9068941	20230615	RGD		mRNA:increased expression:myocardium (mouse)	PMID:32427381|REF_RGD_ID:329849118
12104906	INHBB	inhibin subunit beta B	gene	DOID:9000774	Brain Death		ISO	RGD:2913	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:15808645|REF_RGD_ID:9743920
12104906	INHBB	inhibin subunit beta B	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2913	D	RGD:9068941	20230427	RGD		protein:increased expression:serum (rat)	PMID:27732750|REF_RGD_ID:329322881
12104906	INHBB	inhibin subunit beta B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0050562	West syndrome		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:35165976
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060260	ptosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1321769	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060320	inguinal hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060321	umbilical hernia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1321769	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:0070309	absence epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:7240710	20190315	OMIM			
12104910	CIC	capicua transcriptional repressor	gene	DOID:0080236	autosomal dominant intellectual developmental disorder 45		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CIC-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 45 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 45	PMID:25741868|PMID:28492532
12104910	CIC	capicua transcriptional repressor	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156
12104910	CIC	capicua transcriptional repressor	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:10534	stomach cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:1059	intellectual disability		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28288114
12104910	CIC	capicua transcriptional repressor	gene	DOID:10907	microcephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12104910	CIC	capicua transcriptional repressor	gene	DOID:10908	hydrocephalus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104910	CIC	capicua transcriptional repressor	gene	DOID:11111	hydronephrosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1115	sarcoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:11383	cryptorchidism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1227	neutropenia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:12849	autistic disorder		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28288114
12104910	CIC	capicua transcriptional repressor	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
12104910	CIC	capicua transcriptional repressor	gene	DOID:150	disease of mental health		ISO	RGD:1321770	D	RGD:9068941	20220825	MouseDO			
12104910	CIC	capicua transcriptional repressor	gene	DOID:1697	ichthyosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1826	epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28288114|PMID:35165976
12104910	CIC	capicua transcriptional repressor	gene	DOID:1827	generalized epilepsy		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12104910	CIC	capicua transcriptional repressor	gene	DOID:1909	melanoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:2712	phimosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:2841	asthma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
12104910	CIC	capicua transcriptional repressor	gene	DOID:3070	high grade glioma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12104910	CIC	capicua transcriptional repressor	gene	DOID:3181	oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336|PMID:35561840
12104910	CIC	capicua transcriptional repressor	gene	DOID:3275	thymoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
12104910	CIC	capicua transcriptional repressor	gene	DOID:4362	cervical cancer		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104910	CIC	capicua transcriptional repressor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104910	CIC	capicua transcriptional repressor	gene	DOID:540	strabismus		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12104910	CIC	capicua transcriptional repressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104910	CIC	capicua transcriptional repressor	gene	DOID:630	genetic disease		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34906502
12104910	CIC	capicua transcriptional repressor	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
12104910	CIC	capicua transcriptional repressor	gene	DOID:7154	anaplastic oligodendroglioma		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anaplastic oligodendroglioma	PMID:21817013|PMID:22072542|PMID:22588899|PMID:26017892|PMID:27993330|PMID:28278156|PMID:29844126|PMID:31323153|PMID:32978089|PMID:35101336
12104910	CIC	capicua transcriptional repressor	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9000211	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, seizures, and absent language	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9000343	Vision Disorders		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321769	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869830
12104910	CIC	capicua transcriptional repressor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1321769	D	RGD:9068941	20250807	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337722
12104910	CIC	capicua transcriptional repressor	gene	DOID:9002569	Overweight		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9002916	Hyperphagia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9003132	Sialorrhea		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9003816	Macrocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004108	Fused Kidney		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9004865	Nuchal Cord		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nuchal cord	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Decreased muscle tone | ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:35165976
12104910	CIC	capicua transcriptional repressor	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1321769	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12104910	CIC	capicua transcriptional repressor	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9007573	Flatfoot		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9007661	Dwarfism		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28288114
12104910	CIC	capicua transcriptional repressor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321769	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28288114
12104910	CIC	capicua transcriptional repressor	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:1321769	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12104910	CIC	capicua transcriptional repressor	gene	DOID:93	language disorder		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	
12104910	CIC	capicua transcriptional repressor	gene	DOID:9970	obesity		ISO	RGD:1321769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12104938	PRR36	proline rich 36	gene	DOID:1115	sarcoma		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12104938	PRR36	proline rich 36	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104938	PRR36	proline rich 36	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:9588105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1322340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12104949	PSD2	pleckstrin and Sec7 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104989	THAP11	THAP domain containing 11	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:1321070	D	RGD:9068941	20220825	MouseDO		OMIM:277400	
12104989	THAP11	THAP domain containing 11	gene	DOID:9009144	Methylmalonic Aciduria and Homocystinuria, cblL Type		ISO	RGD:1321069	D	RGD:7240710	20240925	OMIM			
12104989	THAP11	THAP domain containing 11	gene	DOID:9009177	Spinocerebellar Ataxia 51		ISO	RGD:1321069	D	RGD:7240710	20240925	OMIM			
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:10534	stomach cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317339	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:32641753
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:1909	melanoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26950094
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:4362	cervical cancer		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1317339	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:769	neuroblastoma		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9002801	Recurrence		ISO	RGD:1317339	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26121086
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:7240710	20180130	OMIM			
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9007154	Choanal Atresia and Lymphedema		ISO	RGD:1317339	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOANAL ATRESIA AND LYMPHEDEMA | ClinVar Annotator: match by term: Lymphedema-posterior choanal atresia syndrome | ClinVar Annotator: match by term: PTPN14-related condition	PMID:25741868|PMID:28492532
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12104994	PTPN14	protein tyrosine phosphatase non-receptor type 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:10230	aortic atherosclerosis	ameliorates	ISO	RGD:1552527	D	RGD:9068941	20210514	RGD		associated with Hypercholesterolemia	PMID:30282838|REF_RGD_ID:126925208
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		DNA:Missense mutations, haplotype:CDS:multiple (mouse)	PMID:22022387|REF_RGD_ID:126925202
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:12140	Chagas disease	ameliorates	ISO	RGD:731038	D	RGD:9068941	20210514	RGD		DNA:SNP:exon: rs1044925 (human)	PMID:31236660|REF_RGD_ID:126925205
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:731039	D	RGD:9068941	20210514	RGD		myeloid knockout	PMID:31495784|REF_RGD_ID:126925203
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:3345	xanthomatosis		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		associated with atherosclerosis	PMID:30354239|REF_RGD_ID:126925206
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:731038	D	RGD:9068941	20210514	RGD		associated with hepatitis B;protein:increased expression:liver (human)	PMID:30814741|REF_RGD_ID:126925204
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105020	SOAT1	sterol O-acyltransferase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731039	D	RGD:9068941	20210514	RGD		mRNA:increased expression:peritoneal macrophage (mouse)	PMID:26606676|REF_RGD_ID:126925207
12105048	DNAJC18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105048	DNAJC18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:3275	thymoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105048	DNAJC18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105048	DNAJC18	DnaJ heat shock protein family (Hsp40) member C18	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105067	HEXIM2	HEXIM P-TEFb complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105067	HEXIM2	HEXIM P-TEFb complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105067	HEXIM2	HEXIM P-TEFb complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1601726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:3275	thymoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1317673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105090	HAPLN3	hyaluronan and proteoglycan link protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105115	ASZ1	ankyrin repeat, SAM and basic leucine zipper domain containing 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1348719	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
12105115	ASZ1	ankyrin repeat, SAM and basic leucine zipper domain containing 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12105135	IFT70B	intraflagellar transport 70B	gene	DOID:0060242	synpolydactyly		ISO	RGD:1603563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: synpolydactyly	PMID:25741868
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:1909	melanoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:3275	thymoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12105149	C20H19orf44	chromosome 20 C19orf44 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105188	LOC100687459	GTPase IMAP family member 5	gene	DOID:614	lymphopenia		ISO	RGD:628871	D	RGD:9068941	20200609	RGD		DNA:frameshift deletion	PMID:12097339|REF_RGD_ID:619544
12105188	LOC100687459	GTPase IMAP family member 5	gene	DOID:9004499	Noncirrhotic Portal Hypertension 2		ISO	RGD:1349853	D	RGD:7240710	20210818	OMIM			
12105188	LOC100687459	GTPase IMAP family member 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:628871	D	RGD:9068941	20200609	RGD			PMID:12031988|REF_RGD_ID:633092
12105188	LOC100687459	GTPase IMAP family member 5	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:628871	D	RGD:9068941	20200609	RGD		DNA:frameshift deletion	PMID:12097339|REF_RGD_ID:619544
12105203	MIR375	microRNA mir-375	gene	DOID:10534	stomach cancer		ISO	RGD:1345165	D	RGD:9068941	20210528	RGD		associated with Helicobacter Infections; protein:decreased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
12105203	MIR375	microRNA mir-375	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345165	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25992776
12105203	MIR375	microRNA mir-375	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2325360	D	RGD:9068941	20260730	RGD		mRNA:decreased expression:brain	PMID:33519668|REF_RGD_ID:736802359
12105203	MIR375	microRNA mir-375	gene	DOID:4033	bacterial gastritis		ISO	RGD:1345165	D	RGD:9068941	20210528	RGD		protein:decreased expression:stomach (human)	PMID:24718681|REF_RGD_ID:126928128
12105203	MIR375	microRNA mir-375	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1345165	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12105203	MIR375	microRNA mir-375	gene	DOID:4989	pancreatitis		ISO	RGD:1345165	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12105203	MIR375	microRNA mir-375	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1345165	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12105203	MIR375	microRNA mir-375	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345165	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0060604	ankyloglossia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:11963	esophagitis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603688	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:630	genetic disease		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:33726816
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9003163	Heart Block		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart block	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004266	Patellar Dislocation		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patellar dislocation	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300|PMID:33726816
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:19481195|PMID:19877176|PMID:25741868|PMID:28492532|PMID:33135300
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005349	Three M Syndrome 1		ISO	RGD:1603688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: 3M syndrome 1	PMID:25741868|PMID:30980518
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:7240710	20180130	OMIM			
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2	PMID:16531729|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:25923536|PMID:26627873|PMID:27796265|PMID:27959697|PMID:28492532|PMID:28969986|PMID:30980518|PMID:33135300
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006598	Three M Syndrome 2		ISO	RGD:1603688	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3M syndrome 2 | ClinVar Annotator: match by term: OBSL1-related condition | ClinVar Annotator: match by term: THREE M SYNDROME 2 | ClinVar Annotator: match by term: Three M syndrome 2	PMID:16199547|PMID:17681982|PMID:19481195|PMID:19877176|PMID:20164589|PMID:25741868|PMID:27959697|PMID:28492532|PMID:28969986|PMID:33135300|PMID:33726816|PMID:33919104|PMID:36999085|PMID:37520055|PMID:37780995|PMID:38407006
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12105276	OBSL1	obscurin like cytoskeletal adaptor 1	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1603688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868
12105362	GLCE	glucuronic acid epimerase	gene	DOID:10534	stomach cancer		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105362	GLCE	glucuronic acid epimerase	gene	DOID:10763	hypertension		ISO	RGD:1607059	D	RGD:9068941	20230805	RGD		DNA:SNP: : rs3865014 (human)	PMID:27699767|REF_RGD_ID:401717571
12105362	GLCE	glucuronic acid epimerase	gene	DOID:1909	melanoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105362	GLCE	glucuronic acid epimerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105362	GLCE	glucuronic acid epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105362	GLCE	glucuronic acid epimerase	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1607059	D	RGD:9068941	20230805	RGD		DNA:SNP: : rs3865014 (human)	PMID:27699767|REF_RGD_ID:401717571
12105362	GLCE	glucuronic acid epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105373	GLB1L3	galactosidase beta 1 like 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105373	GLB1L3	galactosidase beta 1 like 3	gene	DOID:1115	sarcoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105373	GLB1L3	galactosidase beta 1 like 3	gene	DOID:1909	melanoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105373	GLB1L3	galactosidase beta 1 like 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105373	GLB1L3	galactosidase beta 1 like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:4362	cervical cancer		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105395	TTC22	tetratricopeptide repeat domain 22	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605998	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:1115	sarcoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:1324	lung cancer		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:1909	melanoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:3275	thymoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:6039	uveal melanoma		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:621465	D	RGD:9068941	20200609	RGD			PMID:7918678|REF_RGD_ID:633043
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733653	D	RGD:9068941	20200609	RGD			PMID:11751995|REF_RGD_ID:2311487
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733653	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:thymus gland	PMID:14679103|REF_RGD_ID:2311486
12105415	ICA1	islet cell autoantigen 1	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:733652	D	RGD:9068941	20200609	RGD			PMID:8647206|REF_RGD_ID:2311488
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:0080600	COVID-19		ISO	RGD:732616	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:3070	high grade glioma		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732616	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:732616	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:5419	schizophrenia		ISO	RGD:620011	D	RGD:9068941	20210806	RGD		mRNA:increased expression:prefrontal cortex (rat)	PMID:30142370|REF_RGD_ID:13792655
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105469	ATP5F1C	ATP synthase F1 subunit gamma	gene	DOID:9970	obesity		ISO	RGD:732616	D	RGD:9068941	20200609	RGD			PMID:19549744|REF_RGD_ID:14696798
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:1115	sarcoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105487	ZC3H15	zinc finger CCCH-type containing 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105500	PAIP1	poly(A) binding protein interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105527	MROH2B	maestro heat like repeat family member 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105527	MROH2B	maestro heat like repeat family member 2B	gene	DOID:1115	sarcoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105527	MROH2B	maestro heat like repeat family member 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604530	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105527	MROH2B	maestro heat like repeat family member 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105527	MROH2B	maestro heat like repeat family member 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604530	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:10534	stomach cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:11162	respiratory failure		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute respiratory failure	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:1909	melanoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:3070	high grade glioma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:4362	cervical cancer		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:630	genetic disease		ISO	RGD:1315550	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9001146	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures		ISO	RGD:1315550	D	RGD:7240710	20200715	OMIM			
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9001146	Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CEREBELLAR ATROPHY, WITH OR WITHOUT SEIZURES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315550	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32220290
12105591	PIGK	phosphatidylinositol glycan anchor biosynthesis class K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105606	KLHL20	kelch like family member 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:7240710	20260603	OMIM			
12105606	KLHL20	kelch like family member 20	gene	DOID:0070713	neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES, FACIAL DYSMORPHISM, AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:29738522|PMID:36214804
12105606	KLHL20	kelch like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12105606	KLHL20	kelch like family member 20	gene	DOID:10283	prostate cancer		ISO	RGD:1343100	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12105606	KLHL20	kelch like family member 20	gene	DOID:1059	intellectual disability		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12105606	KLHL20	kelch like family member 20	gene	DOID:1909	melanoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:3070	high grade glioma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105606	KLHL20	kelch like family member 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1343100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105606	KLHL20	kelch like family member 20	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105606	KLHL20	kelch like family member 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105606	KLHL20	kelch like family member 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12105606	KLHL20	kelch like family member 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12105606	KLHL20	kelch like family member 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343100	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36214804
12105606	KLHL20	kelch like family member 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105606	KLHL20	kelch like family member 20	gene	DOID:9970	obesity		ISO	RGD:1343100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:1324	lung cancer		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:5041	esophageal cancer		ISO	RGD:1603639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105622	UTP6	UTP6 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105645	NOTCH1	notch receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:0050145	adenoiditis		ISO	RGD:737367	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Chronic adenoiditis	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737367	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:16707600|REF_RGD_ID:1580759
12105645	NOTCH1	notch receptor 1	gene	DOID:0050581	brachydactyly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:10998	D	RGD:9068941	20220204	RGD		protein:increased expression:tongue (mouse)	PMID:30624777|REF_RGD_ID:151347668
12105645	NOTCH1	notch receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	
12105645	NOTCH1	notch receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737367	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12105645	NOTCH1	notch receptor 1	gene	DOID:0060058	lymphoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18798262
12105645	NOTCH1	notch receptor 1	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12105645	NOTCH1	notch receptor 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
12105645	NOTCH1	notch receptor 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:737367	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:30255099
12105645	NOTCH1	notch receptor 1	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:737367	D	RGD:7240710	20180130	OMIM			
12105645	NOTCH1	notch receptor 1	gene	DOID:0080333	aortic valve disease 1		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE 1 | ClinVar Annotator: match by term: Aortic valve disease 1 | ClinVar Annotator: match by term: NOTCH1-related condition	PMID:15472075|PMID:15712195|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25260786|PMID:25500235|PMID:25741868|PMID:25963545|PMID:26178433|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29392406|PMID:29447731|PMID:29535388|PMID:29555671|PMID:29641532|PMID:29767458|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31633846|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33057194|PMID:33064175|PMID:33110418|PMID:33208564|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:36140728|PMID:36866832|PMID:37198425|PMID:38778082|PMID:40646242|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:22006338|PMID:24140581|PMID:25642631|PMID:27993330|PMID:29924900|PMID:36265581
12105645	NOTCH1	notch receptor 1	gene	DOID:0080878	IDH-wildtype glioblastoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IDH-wildtype glioblastoma	PMID:22006338|PMID:24651013|PMID:27993330
12105645	NOTCH1	notch receptor 1	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:26061751|PMID:27993330|PMID:28912153|PMID:30710203|PMID:33322834
12105645	NOTCH1	notch receptor 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:27993330|PMID:28912153
12105645	NOTCH1	notch receptor 1	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:737367	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Calpainopathy	PMID:25500235|PMID:25741868|PMID:26820064|PMID:27854218|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:10485	esophageal atresia		ISO	RGD:737367	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12105645	NOTCH1	notch receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:10629	microphthalmia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral microphthalmos	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:737367	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cholesteatoma of middle ear	PMID:25741868|PMID:27993330|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:11782	astigmatism		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12105645	NOTCH1	notch receptor 1	gene	DOID:11830	myopia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:12176	goiter		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:12849	autistic disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28387797|PMID:28492532|PMID:30059548|PMID:31624253
12105645	NOTCH1	notch receptor 1	gene	DOID:13025	retinopathy of prematurity	treatment	ISO	RGD:3187	D	RGD:9068941	20221117	RGD			PMID:30652694|REF_RGD_ID:155663485
12105645	NOTCH1	notch receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105645	NOTCH1	notch receptor 1	gene	DOID:13580	cholestasis		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:16025100|PMID:25132448|PMID:25741868|PMID:35186194|PMID:36866832
12105645	NOTCH1	notch receptor 1	gene	DOID:1380	endometrial cancer		ISO	RGD:737367	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:11078798|REF_RGD_ID:2299153
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28166811|PMID:28387797|PMID:28492532|PMID:30059548|PMID:30609409|PMID:32748548
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27854218|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17662764|PMID:18593716|PMID:21457232|PMID:24033266|PMID:24728327|PMID:25587027|PMID:25741868|PMID:25931334|PMID:26188975|PMID:26708639|PMID:26820064|PMID:27989580|PMID:28387797|PMID:28492532|PMID:30609409|PMID:32748548
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:22077063|PMID:22225590|PMID:23040356|PMID:23578328|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28776427|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29706348|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30511478|PMID:30582441|PMID:30609409|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35830949|PMID:36973604|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24113472|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20007775|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:38778082|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26178433|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27854218|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:38778082|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21642962|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23040356|PMID:23086750|PMID:23578328|PMID:23734977|PMID:23860447|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25500235|PMID:25587027|PMID:25741868|PMID:25907466|PMID:25931334|PMID:25963545|PMID:26010070|PMID:26178433|PMID:26188975|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:26893459|PMID:27760138|PMID:27989580|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28963436|PMID:28991257|PMID:29641532|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30255099|PMID:30293987|PMID:30511478|PMID:30582441|PMID:30609409|PMID:30675029|PMID:31279624|PMID:31624253|PMID:31633846|PMID:31866570|PMID:32154576|PMID:32720365|PMID:32748548|PMID:33064175|PMID:33208564|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:35101336|PMID:35288444|PMID:35737725|PMID:35830949|PMID:36973604|PMID:37198425|PMID:38778082|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24728327|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26580448|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections | ClinVar Annotator: match by term: thoracic aortic aneurysms	PMID:15472075|PMID:16614245|PMID:16729972|PMID:17576681|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24033266|PMID:24418111|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26699486|PMID:26708639|PMID:26820064|PMID:26837699|PMID:27760138|PMID:27993330|PMID:28074886|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29535388|PMID:29641532|PMID:29907982|PMID:30059548|PMID:30255099|PMID:30582441|PMID:30675029|PMID:31624253|PMID:31866570|PMID:32748548|PMID:33057194|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34498425|PMID:34668355|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35811711|PMID:37198425|PMID:38778082|PMID:40646242|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:737367	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33726816
12105645	NOTCH1	notch receptor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:11003647|PMID:15472075|PMID:16614245|PMID:16738328|PMID:20393564|PMID:29321718|PMID:32327503|PMID:32792479|PMID:35101336|PMID:35186194
12105645	NOTCH1	notch receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:1682	congenital heart disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Defect, Congenital Heart	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
12105645	NOTCH1	notch receptor 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:10998	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17297654|REF_RGD_ID:2325328
12105645	NOTCH1	notch receptor 1	gene	DOID:182	calcinosis		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22110751
12105645	NOTCH1	notch receptor 1	gene	DOID:1826	epilepsy		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:1909	melanoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:10998	D	RGD:9068941	20221117	RGD			PMID:30909142|REF_RGD_ID:155663380
12105645	NOTCH1	notch receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:35101336
12105645	NOTCH1	notch receptor 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3187	D	RGD:9068941	20221117	RGD			PMID:30258350|REF_RGD_ID:155663419
12105645	NOTCH1	notch receptor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:737367	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:2602	chondroma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enchondroma	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:264	hemangiopericytoma		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		mRNA,protein:increased expression:anterior temporal lobe	PMID:26951238|REF_RGD_ID:155663351
12105645	NOTCH1	notch receptor 1	gene	DOID:3068	glioblastoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12105645	NOTCH1	notch receptor 1	gene	DOID:3069	malignant astrocytoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12105645	NOTCH1	notch receptor 1	gene	DOID:3070	high grade glioma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105645	NOTCH1	notch receptor 1	gene	DOID:3149	keratoacanthoma		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoacanthoma	PMID:27283355
12105645	NOTCH1	notch receptor 1	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12105645	NOTCH1	notch receptor 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:27993330
12105645	NOTCH1	notch receptor 1	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:11003647|PMID:20852131|PMID:21177409|PMID:22077063|PMID:23734977|PMID:26343114|PMID:27993330|PMID:28614716|PMID:35101336|PMID:35705558|PMID:35705560
12105645	NOTCH1	notch receptor 1	gene	DOID:3275	thymoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105645	NOTCH1	notch receptor 1	gene	DOID:3312	bipolar disorder		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10998	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal chord	PMID:26067594|REF_RGD_ID:13524575
12105645	NOTCH1	notch receptor 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:10998	D	RGD:9068941	20200609	RGD			PMID:19028876|PMID:20484026|REF_RGD_ID:2325323|REF_RGD_ID:2325324
12105645	NOTCH1	notch receptor 1	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
12105645	NOTCH1	notch receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic dilatation	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12105645	NOTCH1	notch receptor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:3187	D	RGD:9068941	20221201	RGD		protein:increased expression:lung	PMID:27982686|REF_RGD_ID:155663660
12105645	NOTCH1	notch receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12105645	NOTCH1	notch receptor 1	gene	DOID:4079	heart valve disease		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22110751
12105645	NOTCH1	notch receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:480	movement disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105645	NOTCH1	notch receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737367	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105645	NOTCH1	notch receptor 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early T cell progenitor acute lymphoblastic leukemia | ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia	PMID:15472075|PMID:16738328|PMID:17575125|PMID:17646409|PMID:24651013|PMID:27993330|PMID:28297628|PMID:28671688|PMID:33054110
12105645	NOTCH1	notch receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105645	NOTCH1	notch receptor 1	gene	DOID:62	aortic valve disease		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC VALVE DISEASE | ClinVar Annotator: match by term: Aortic valve disorder	PMID:15472075|PMID:16614245|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25326637|PMID:25741868|PMID:26837699|PMID:28492532|PMID:29641532|PMID:30582441|PMID:31624253
12105645	NOTCH1	notch receptor 1	gene	DOID:630	genetic disease		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18660822|PMID:22326375|PMID:9336830
12105645	NOTCH1	notch receptor 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:737367	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:19597493|PMID:27760138
12105645	NOTCH1	notch receptor 1	gene	DOID:6432	pulmonary hypertension	ameliorates	ISO	RGD:10998	D	RGD:9068941	20221110	RGD			PMID:34739767|REF_RGD_ID:155646132
12105645	NOTCH1	notch receptor 1	gene	DOID:649	prion disease		ISO	RGD:10998	D	RGD:9068941	20200609	RGD			PMID:15640354|REF_RGD_ID:13782159
12105645	NOTCH1	notch receptor 1	gene	DOID:65	connective tissue disease		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:15472075|PMID:16614245|PMID:16729972|PMID:18593716|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:27760138|PMID:28492532|PMID:33914609|PMID:33994118|PMID:35288444|PMID:40646242
12105645	NOTCH1	notch receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:83	cataract		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:863	nervous system disease		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23203475
12105645	NOTCH1	notch receptor 1	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:10998	D	RGD:9068941	20221110	RGD			PMID:30787185|REF_RGD_ID:155663348
12105645	NOTCH1	notch receptor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:16025100|PMID:25132448|PMID:25741868|PMID:28387797|PMID:28492532|PMID:30059548
12105645	NOTCH1	notch receptor 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subarachnoid hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
12105645	NOTCH1	notch receptor 1	gene	DOID:9000713	Surgical Wound	ameliorates	ISO	RGD:10998	D	RGD:9068941	20221110	RGD		associated with diabetes mellitus;	PMID:30886104|REF_RGD_ID:155646129
12105645	NOTCH1	notch receptor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
12105645	NOTCH1	notch receptor 1	gene	DOID:9000970	Focal Nodular Hyperplasia		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		mRNA:decreased expression:liver	PMID:23870033|REF_RGD_ID:155646133
12105645	NOTCH1	notch receptor 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3187	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18942116|REF_RGD_ID:2325310
12105645	NOTCH1	notch receptor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension | ClinVar Annotator: match by term: Pulmonary arterial hypertension associated with congenital heart disease	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441|PMID:35288444
12105645	NOTCH1	notch receptor 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
12105645	NOTCH1	notch receptor 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19147571
12105645	NOTCH1	notch receptor 1	gene	DOID:9002962	Adams-Oliver Syndrome 2		ISO	RGD:737367	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 2	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:9003126	Hallucinations		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:737367	D	RGD:9068941	20221111	RGD		protein:increased expression:intestine:	PMID:24219762|REF_RGD_ID:155663361
12105645	NOTCH1	notch receptor 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:737367	D	RGD:9068941	20221111	RGD		protein:increased expression:serum:	PMID:21955427|REF_RGD_ID:155663363
12105645	NOTCH1	notch receptor 1	gene	DOID:9003202	Pulmonary Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
12105645	NOTCH1	notch receptor 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
12105645	NOTCH1	notch receptor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12105645	NOTCH1	notch receptor 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:10998	D	RGD:9068941	20221111	RGD			PMID:23188126|REF_RGD_ID:155663352
12105645	NOTCH1	notch receptor 1	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16025100
12105645	NOTCH1	notch receptor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27923803
12105645	NOTCH1	notch receptor 1	gene	DOID:9004992	Apnea		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9005173	Microphthalmia and Mental Deficiency		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colobomatous microphthalmia	PMID:26893459
12105645	NOTCH1	notch receptor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:9005647	Experimental Autoimmune Uveitis	disease_progression	ISO	RGD:3187	D	RGD:9068941	20221222	RGD			PMID:31209505|REF_RGD_ID:155791448
12105645	NOTCH1	notch receptor 1	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:737367	D	RGD:7240710	20180130	OMIM			
12105645	NOTCH1	notch receptor 1	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 5 | ClinVar Annotator: match by term: Adams-Oliver syndrome 5 | ClinVar Annotator: match by term: NOTCH1-related disorder	PMID:12590261|PMID:12774039|PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:16729972|PMID:16738328|PMID:17576681|PMID:17662764|PMID:18593716|PMID:19245433|PMID:19635999|PMID:20951801|PMID:20981092|PMID:21457232|PMID:21670202|PMID:22006338|PMID:22077063|PMID:22210878|PMID:22225590|PMID:22858860|PMID:23086750|PMID:23102684|PMID:23578328|PMID:23734977|PMID:24033266|PMID:24140581|PMID:24418111|PMID:24943832|PMID:25104330|PMID:25132448|PMID:25194568|PMID:25260786|PMID:25642631|PMID:25741868|PMID:25931334|PMID:25963545|PMID:26010070|PMID:26299364|PMID:26669487|PMID:26699486|PMID:26708639|PMID:26785492|PMID:26820064|PMID:26837699|PMID:27077170|PMID:27283355|PMID:27760138|PMID:27993330|PMID:28017968|PMID:28074886|PMID:28166811|PMID:28387797|PMID:28492532|PMID:28649221|PMID:28659821|PMID:28991257|PMID:29392406|PMID:29447731|PMID:29535388|PMID:29555671|PMID:29641532|PMID:29858025|PMID:29907982|PMID:29924900|PMID:30059548|PMID:30115950|PMID:30255099|PMID:30293987|PMID:30582441|PMID:30675029|PMID:30919572|PMID:31330235|PMID:31624253|PMID:31866570|PMID:31941532|PMID:32720365|PMID:32748548|PMID:33057194|PMID:33076453|PMID:33110418|PMID:33247628|PMID:33630301|PMID:33726816|PMID:33914609|PMID:33994118|PMID:34328347|PMID:34461831|PMID:34498425|PMID:34668355|PMID:3495735|PMID:35101336|PMID:35186194|PMID:35288444|PMID:35737725|PMID:35811711|PMID:36265581|PMID:36866832|PMID:37198425|PMID:37239988|PMID:38778082|PMID:40127276|PMID:40646242|PMID:4750422|PMID:9536098
12105645	NOTCH1	notch receptor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12105645	NOTCH1	notch receptor 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9006175	Peritoneal Diseases		ISO	RGD:3187	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:20056840|REF_RGD_ID:2325288
12105645	NOTCH1	notch receptor 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3187	D	RGD:9068941	20200609	RGD			PMID:11971902|REF_RGD_ID:625426
12105645	NOTCH1	notch receptor 1	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:3187	D	RGD:9068941	20240420	RGD			PMID:32828943|REF_RGD_ID:405650202
12105645	NOTCH1	notch receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:3187	D	RGD:9068941	20221104	RGD			PMID:32089723|REF_RGD_ID:155641250
12105645	NOTCH1	notch receptor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30394310
12105645	NOTCH1	notch receptor 1	gene	DOID:9007436	Hypertrophic Cicatrix	treatment	ISO	RGD:3187	D	RGD:9068941	20250306	RGD			PMID:34320121|REF_RGD_ID:597830078
12105645	NOTCH1	notch receptor 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
12105645	NOTCH1	notch receptor 1	gene	DOID:9007736	Vertigo		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:18593716|PMID:20951801|PMID:20981092|PMID:25741868|PMID:28492532|PMID:29641532|PMID:30582441
12105645	NOTCH1	notch receptor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12105645	NOTCH1	notch receptor 1	gene	DOID:9008189	Pyelectasis		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	
12105645	NOTCH1	notch receptor 1	gene	DOID:9008212	Diabetic Foot		ISO	RGD:737367	D	RGD:9068941	20221110	RGD		protein:increased expression:skin, epidermis:	PMID:30886104|REF_RGD_ID:155646129
12105645	NOTCH1	notch receptor 1	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:16025100|PMID:25132448|PMID:25741868
12105645	NOTCH1	notch receptor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12105645	NOTCH1	notch receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21036696|PMID:21679465
12105645	NOTCH1	notch receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532|PMID:33247628
12105645	NOTCH1	notch receptor 1	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal hemorrhage	PMID:25741868|PMID:35186194|PMID:36866832
12105645	NOTCH1	notch receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:15472075|PMID:16614245|PMID:16729972|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25741868|PMID:26837699|PMID:28492532
12105645	NOTCH1	notch receptor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
12105645	NOTCH1	notch receptor 1	gene	DOID:9834	hyperopia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
12105645	NOTCH1	notch receptor 1	gene	DOID:987	alopecia		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:16025100|PMID:21457232|PMID:25132448|PMID:25741868|PMID:25963545|PMID:28492532|PMID:32720365|PMID:33630301
12105645	NOTCH1	notch receptor 1	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:737367	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome | ClinVar Annotator: match by term: hypoplastic left heart syndrome	PMID:15472075|PMID:16025100|PMID:16199547|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21457232|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25132448|PMID:25741868|PMID:25963545|PMID:26837699|PMID:28492532|PMID:30511478|PMID:32720365|PMID:33630301
12105645	NOTCH1	notch receptor 1	gene	DOID:9970	obesity		ISO	RGD:737367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:15472075|PMID:16614245|PMID:19245433|PMID:19635999|PMID:21670202|PMID:22077063|PMID:22210878|PMID:22858860|PMID:23086750|PMID:23734977|PMID:24943832|PMID:25260786|PMID:25741868|PMID:26837699|PMID:28492532|PMID:31624253
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321838	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:10283	prostate cancer		ISO	RGD:1321838	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:13620	patent foramen ovale		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:1909	melanoma		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:4977	lymphedema		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:5419	schizophrenia		ISO	RGD:1321838	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:630	genetic disease		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9000197	Edema		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9001031	Retrognathia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9004748	Hennekam Lymphangiectasia-Lymphedema Syndrome 3		ISO	RGD:1321838	D	RGD:7240710	20190315	OMIM			
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9004748	Hennekam Lymphangiectasia-Lymphedema Syndrome 3		ISO	RGD:1321838	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADAMTS3-related condition | ClinVar Annotator: match by term: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 3 | ClinVar Annotator: match by term: Hennekam lymphangiectasia-lymphedema syndrome 3	PMID:25741868|PMID:28492532|PMID:28985353|PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9006095	Ascites		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:30450763
12105683	ADAMTS3	ADAM metallopeptidase with thrombospondin type 1 motif 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105712	PRR12	proline rich 12	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105712	PRR12	proline rich 12	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:29556724|PMID:33824499
12105712	PRR12	proline rich 12	gene	DOID:1059	intellectual disability		ISO	RGD:1320487	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12105712	PRR12	proline rich 12	gene	DOID:10629	microphthalmia		ISO	RGD:1320487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: complex microphthalmia	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:10892	hypospadias		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12105712	PRR12	proline rich 12	gene	DOID:1115	sarcoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105712	PRR12	proline rich 12	gene	DOID:12849	autistic disorder		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:1324	lung cancer		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105712	PRR12	proline rich 12	gene	DOID:1826	epilepsy		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12105712	PRR12	proline rich 12	gene	DOID:1909	melanoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105712	PRR12	proline rich 12	gene	DOID:3275	thymoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12105712	PRR12	proline rich 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12105712	PRR12	proline rich 12	gene	DOID:4362	cervical cancer		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105712	PRR12	proline rich 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105712	PRR12	proline rich 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105712	PRR12	proline rich 12	gene	DOID:630	genetic disease		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12105712	PRR12	proline rich 12	gene	DOID:9001510	Funnel Chest		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12105712	PRR12	proline rich 12	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:9004543	NEUROOCULAR SYNDROME 1		ISO	RGD:1320487	D	RGD:7240710	20211027	OMIM			
12105712	PRR12	proline rich 12	gene	DOID:9004543	NEUROOCULAR SYNDROME 1		ISO	RGD:1320487	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROOCULAR SYNDROME 1 | ClinVar Annotator: match by term: Neuroocular syndrome 1 | ClinVar Annotator: match by term: PRR12-related condition | ClinVar Annotator: match by term: neuroocular syndrome 1	PMID:25741868|PMID:28492532|PMID:33824499
12105712	PRR12	proline rich 12	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12105712	PRR12	proline rich 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105712	PRR12	proline rich 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12105712	PRR12	proline rich 12	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	
12105712	PRR12	proline rich 12	gene	DOID:9009291	Neuroocular syndrome		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroocular syndrome	PMID:25741868|PMID:29758562|PMID:33824499
12105712	PRR12	proline rich 12	gene	DOID:9993	hypoglycemia		ISO	RGD:1320487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
12105770	FBXL12	F-box and leucine rich repeat protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105770	FBXL12	F-box and leucine rich repeat protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105770	FBXL12	F-box and leucine rich repeat protein 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320332	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105778	EIF4ENIF1	eukaryotic translation initiation factor 4E nuclear import factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050562	West syndrome		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:26467025|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050989	episodic ataxia type 1		ISO	RGD:1346938	D	RGD:7240710	20180130	OMIM			
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0050989	episodic ataxia type 1		ISO	RGD:1346938	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPISODIC ATAXIA, TYPE 1 | ClinVar Annotator: match by term: Episodic ataxia type 1 | ClinVar Annotator: match by term: MYOKYMIA 1 WITH HYPOMAGNESEMIA | ClinVar Annotator: match by term: PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY	PMID:10355668|PMID:10414318|PMID:11013453|PMID:11026449|PMID:11746627|PMID:11773313|PMID:12408867|PMID:15351427|PMID:17114047|PMID:17136396|PMID:19528245|PMID:19779067|PMID:20301785|PMID:21307345|PMID:2245301|PMID:23349320|PMID:25741868|PMID:26395884|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:28666963|PMID:29056246|PMID:30055040|PMID:30140249|PMID:32139178|PMID:32316562|PMID:32331416|PMID:32577860|PMID:32705822|PMID:34418069|PMID:34778950|PMID:35146069|PMID:35897654|PMID:37152446|PMID:38570113|PMID:7842011|PMID:8541859|PMID:8845167|PMID:8871592|PMID:9526001|PMID:9714564
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060249	scoliosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060260	ptosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:0080072	intestinal pseudo-obstruction		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intestinal pseudo-obstruction	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:10480	diaphragmatic eventration		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diaphragmatic eventration	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1074	kidney failure		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1115	sarcoma		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:11830	myopia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12568	dyscalculia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyscalculia	PMID:25741868|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:12859	choreatic disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal dyskinesia	PMID:25741868|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1573	communicating hydrocephalus		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Communicating hydrocephalus	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renovascular hypertension	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1596	depressive disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1686	glaucoma		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1724	duodenal ulcer		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal ulcer	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1826	epilepsy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1346938	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:2452	thrombophilia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombophilia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:3312	bipolar disorder		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1552897	D	RGD:9068941	20220825	MouseDO			
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:423	myopathy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:4428	dyslexia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:4977	lymphedema		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:630	genetic disease		ISO	RGD:1346938	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23349320|PMID:25741868|PMID:26395884|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:767	muscular atrophy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:26467025|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:2949	D	RGD:9068941	20241116	RGD			PMID:22206926|REF_RGD_ID:10047237
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:8398	osteoarthritis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoarthritis	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:870	neuropathy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000053	Headache		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000495	Tremor		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9000641	Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001302	Myokymia 1		ISO	RGD:1346938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOKYMIA 1	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001581	Constipation		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001653	Nocturia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9001745	Fasciculation		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fasciculations	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003286	Diplopia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003760	Myalgia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9003935	Myokymia		ISO	RGD:2949	D	RGD:9068941	20260604	RGD			PMID:22206926|REF_RGD_ID:10047237
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004556	Melena		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melena	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004751	Nausea		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9004866	Ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:23349320|PMID:25741868|PMID:26467025|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:26467025|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9006617	Fatigue		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9006743	Spasm		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9007736	Vertigo		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301785|PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:28492532|PMID:29056246|PMID:30055040|PMID:37152446|PMID:8871592|PMID:9714564
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008385	Vomiting		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008520	Chronic Pain		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:23349320|PMID:25741868|PMID:27864847|PMID:28216637|PMID:29056246|PMID:30055040
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:1346938	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:25741868|PMID:28492532|PMID:34305802
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:913	atrophic muscular disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:26467025|PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:936	brain disease		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9477	pulmonary embolism		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:28492532
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:963	episodic ataxia		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:20301785|PMID:25741868|PMID:28492532|PMID:37152446|PMID:8871592|PMID:9714564
12105823	KCNA1	potassium voltage-gated channel subfamily A member 1	gene	DOID:9970	obesity		ISO	RGD:1346938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:0070490	infantile parkinsonism-dystonia 2		ISO	RGD:734009	D	RGD:7240710	20190315	OMIM			
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:0070490	infantile parkinsonism-dystonia 2		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brain dopamine-serotonin vesicular transport disease | ClinVar Annotator: match by term: PARKINSONISM-DYSTONIA, INFANTILE, 2 | ClinVar Annotator: match by term: SLC18A2-related condition	PMID:23363473|PMID:25741868|PMID:26497564|PMID:26539891|PMID:28492532|PMID:28716265|PMID:31618753|PMID:32581362|PMID:34078222|PMID:35002152|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:0080855	Parkinsonism		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16269145
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1059	intellectual disability		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1115	sarcoma		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:12849	autistic disorder		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1324	lung cancer		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:734009	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34774656
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:11300	D	RGD:9068941	20200609	RGD			PMID:11463816|REF_RGD_ID:5131163
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD			PMID:16269145|REF_RGD_ID:5129143
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:substantia nigra (rat)	PMID:21291984|REF_RGD_ID:5131086
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:734009	D	RGD:9068941	20200609	RGD		protein:decreased expression:putamen, caudate nucleus, striatum (human)	PMID:16421508|REF_RGD_ID:5131167
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease		ISO	RGD:734009	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:16112329|PMID:34774656
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:14330	Parkinson's disease	resistance	ISO	RGD:734009	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr:g.-103C>A, g.-74C>T, g.-62G>A (human)	PMID:16339215|REF_RGD_ID:5131165
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra (rat)	PMID:18385100|REF_RGD_ID:5131159
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1596	depressive disorder		ISO	RGD:11300	D	RGD:9068941	20200609	RGD			PMID:17898223|REF_RGD_ID:5131168
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:1826	epilepsy		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:303	substance-related disorder		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:increased cysteine nitrosylation:striatum, vesicle (rat)	PMID:17683483|REF_RGD_ID:5131179
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:3694	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus (rat)	PMID:19798748|REF_RGD_ID:5130970
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:4362	cervical cancer		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:5041	esophageal cancer		ISO	RGD:734009	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:543	dystonia		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:630	genetic disease		ISO	RGD:734009	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:863	nervous system disease		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12890883
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:734009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18643795
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9005077	Joint Instability		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734009	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26497564|PMID:28492532|PMID:28716265|PMID:34078222|PMID:36318270
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:3694	D	RGD:9068941	20200609	RGD			PMID:16710474|REF_RGD_ID:2317333
12105831	SLC18A2	solute carrier family 18 member A2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:734009	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas (human)	PMID:19223416|REF_RGD_ID:5131199
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:1324	lung cancer		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:1909	melanoma		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105851	ST18	ST18 C2H2C-type zinc finger transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:1115	sarcoma		ISO	RGD:1319348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:12849	autistic disorder		ISO	RGD:1319348	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17519220
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:3070	high grade glioma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1319348	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12105907	GPR155	G protein-coupled receptor 155	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319500	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12105930	OLFML2B	olfactomedin like 2B	gene	DOID:9256	colorectal cancer		ISO	RGD:1319500	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604545	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1604545	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12105945	ANKS3	ankyrin repeat and sterile alpha motif domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12105974	NGFR	nerve growth factor receptor	gene	DOID:0050328	congenital hypothyroidism	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23312094|REF_RGD_ID:10414076
12105974	NGFR	nerve growth factor receptor	gene	DOID:0050741	alcohol dependence		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:altered expression:brain,neuron	PMID:7609866|REF_RGD_ID:401976553
12105974	NGFR	nerve growth factor receptor	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23528019|REF_RGD_ID:7242845
12105974	NGFR	nerve growth factor receptor	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:12741461|REF_RGD_ID:5508378
12105974	NGFR	nerve growth factor receptor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:3177	D	RGD:9068941	20240203	RGD			PMID:20581854|REF_RGD_ID:401965387
12105974	NGFR	nerve growth factor receptor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:lamina propria:lack of staining is a marker for HD	PMID:7807351|REF_RGD_ID:5508387
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10983	D	RGD:9068941	20200609	RGD		protein:altered localization:brain	PMID:19334058|REF_RGD_ID:5508225
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD			PMID:2557638|REF_RGD_ID:10414073
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs2072446	PMID:18780967|REF_RGD_ID:5508228
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:altered expression:urine	PMID:8215963|REF_RGD_ID:10413893
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:basal nucleus of telencephalon, neuron	PMID:10683291|REF_RGD_ID:10413892
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :multiple	PMID:22236693|REF_RGD_ID:10413891
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:23545424|REF_RGD_ID:10413895
12105974	NGFR	nerve growth factor receptor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:19070649|REF_RGD_ID:10413894
12105974	NGFR	nerve growth factor receptor	gene	DOID:10762	portal hypertension		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein:increased expression:superior mesenteric ganglion	PMID:22292477|REF_RGD_ID:10414081
12105974	NGFR	nerve growth factor receptor	gene	DOID:10763	hypertension		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		DNA,protein:missense mutation:CDS:c.28G>A, p.A10T (rat strains: SHR/Izm, SHRSP/Izm, WKHT)	PMID:8762194|REF_RGD_ID:5508800
12105974	NGFR	nerve growth factor receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17576803|REF_RGD_ID:5144067
12105974	NGFR	nerve growth factor receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23138653|REF_RGD_ID:10414078
12105974	NGFR	nerve growth factor receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:15795180|REF_RGD_ID:5508374
12105974	NGFR	nerve growth factor receptor	gene	DOID:11832	visual epilepsy		ISO	RGD:730911	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:10436046
12105974	NGFR	nerve growth factor receptor	gene	DOID:12217	Lewy body dementia		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:8347330|REF_RGD_ID:10413896
12105974	NGFR	nerve growth factor receptor	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:19824047|REF_RGD_ID:4891065
12105974	NGFR	nerve growth factor receptor	gene	DOID:12858	Huntington's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:caudate nucleus	PMID:18093249|REF_RGD_ID:10058981
12105974	NGFR	nerve growth factor receptor	gene	DOID:1289	neurodegenerative disease		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12097334
12105974	NGFR	nerve growth factor receptor	gene	DOID:1307	dementia		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;protein:decreased expression:medial septal nucleus	PMID:8232919|REF_RGD_ID:10413897
12105974	NGFR	nerve growth factor receptor	gene	DOID:14330	Parkinson's disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:8347330|REF_RGD_ID:10413896
12105974	NGFR	nerve growth factor receptor	gene	DOID:1555	urticaria		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin	PMID:12653731|REF_RGD_ID:5508479
12105974	NGFR	nerve growth factor receptor	gene	DOID:1596	depressive disorder		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:p.S205L, minor (L) allele appears protective	PMID:15274039|REF_RGD_ID:5508376
12105974	NGFR	nerve growth factor receptor	gene	DOID:1679	cystitis		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:lumbosacral dorsal root ganglia	PMID:18189308|REF_RGD_ID:5508447
12105974	NGFR	nerve growth factor receptor	gene	DOID:1686	glaucoma		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20943663|REF_RGD_ID:5508695
12105974	NGFR	nerve growth factor receptor	gene	DOID:1793	pancreatic cancer	severity	ISO	RGD:730911	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:associated with longer overall survival	PMID:16704535|REF_RGD_ID:5508229
12105974	NGFR	nerve growth factor receptor	gene	DOID:1909	melanoma		ISO	RGD:730911	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:30339727
12105974	NGFR	nerve growth factor receptor	gene	DOID:1936	atherosclerosis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:adventitia, vasa vasorum	PMID:11689207|REF_RGD_ID:5508382
12105974	NGFR	nerve growth factor receptor	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:11124986|REF_RGD_ID:9743974
12105974	NGFR	nerve growth factor receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:reactive astrocytes, microglia/macrophages	PMID:11829348|REF_RGD_ID:5508481
12105974	NGFR	nerve growth factor receptor	gene	DOID:2841	asthma		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:12540484|PMID:16603479|REF_RGD_ID:5144070|REF_RGD_ID:5144072
12105974	NGFR	nerve growth factor receptor	gene	DOID:3310	atopic dermatitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:nerve fibers of the papillary dermis	PMID:16586073|REF_RGD_ID:5508452
12105974	NGFR	nerve growth factor receptor	gene	DOID:3393	coronary artery disease		ISO	RGD:730911	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
12105974	NGFR	nerve growth factor receptor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22678884|REF_RGD_ID:10413900
12105974	NGFR	nerve growth factor receptor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17576803|REF_RGD_ID:5144067
12105974	NGFR	nerve growth factor receptor	gene	DOID:4483	rhinitis		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, eosinophil	PMID:18647313|REF_RGD_ID:5144116
12105974	NGFR	nerve growth factor receptor	gene	DOID:6000	congestive heart failure		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction ;mRNA:increased expression:heart left ventricle, septum (rat)	PMID:16497176|REF_RGD_ID:1642301
12105974	NGFR	nerve growth factor receptor	gene	DOID:90	degenerative disc disease		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20973063|REF_RGD_ID:5144150
12105974	NGFR	nerve growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:11223160|REF_RGD_ID:5144100
12105974	NGFR	nerve growth factor receptor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23748892|REF_RGD_ID:10414079
12105974	NGFR	nerve growth factor receptor	gene	DOID:9000310	Lung Injury		ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:17673270|REF_RGD_ID:5144065
12105974	NGFR	nerve growth factor receptor	gene	DOID:9000641	Pain		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Inflammation	PMID:20060234|REF_RGD_ID:5144063
12105974	NGFR	nerve growth factor receptor	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:23940017|REF_RGD_ID:10414074
12105974	NGFR	nerve growth factor receptor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22302815|REF_RGD_ID:10413905
12105974	NGFR	nerve growth factor receptor	gene	DOID:9001240	Peripheral Nerve Injuries	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:22669154|REF_RGD_ID:10413899
12105974	NGFR	nerve growth factor receptor	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3177	D	RGD:9068941	20200609	RGD		associated with Brachial Plexus Neuropathies	PMID:23324933|REF_RGD_ID:10413898
12105974	NGFR	nerve growth factor receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17409433|PMID:18056468
12105974	NGFR	nerve growth factor receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:central nervous system	PMID:8866783|REF_RGD_ID:5508386
12105974	NGFR	nerve growth factor receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	severity	ISO	RGD:10983	D	RGD:9068941	20200609	RGD			PMID:16519950|REF_RGD_ID:5508312
12105974	NGFR	nerve growth factor receptor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:730911	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10436046
12105974	NGFR	nerve growth factor receptor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:altered expression:brain	PMID:15188277|REF_RGD_ID:401976555
12105974	NGFR	nerve growth factor receptor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:3177	D	RGD:9068941	20240229	RGD		protein:decreased expression:brain	PMID:15188276|REF_RGD_ID:401976554
12105974	NGFR	nerve growth factor receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21136036|REF_RGD_ID:5144144
12105974	NGFR	nerve growth factor receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3177	D	RGD:9068941	20240309	RGD		protein:decreased expression:telencephalon	PMID:26282349|REF_RGD_ID:402463971
12105974	NGFR	nerve growth factor receptor	gene	DOID:9005908	Retrograde Degeneration		ISO	RGD:3177	D	RGD:9068941	20240309	RGD		protein:decreased expression:forebrain	PMID:29609077|REF_RGD_ID:402463965
12105974	NGFR	nerve growth factor receptor	gene	DOID:9006302	Binge Drinking		ISO	RGD:3177	D	RGD:9068941	20250201	RGD		mRNA:decreased expression:basal forebrain cholinergic neurons	PMID:37402853|REF_RGD_ID:597538603
12105974	NGFR	nerve growth factor receptor	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:3177	D	RGD:9068941	20241214	RGD			PMID:12873743|REF_RGD_ID:9743975
12105974	NGFR	nerve growth factor receptor	gene	DOID:9007500	Prurigo		ISO	RGD:730911	D	RGD:9068941	20200609	RGD		protein:increased expression:skin Schwann cells, skin perineurium cells	PMID:10025723|REF_RGD_ID:5508384
12105974	NGFR	nerve growth factor receptor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3177	D	RGD:9068941	20200609	RGD			PMID:20943663|REF_RGD_ID:5508695
12105974	NGFR	nerve growth factor receptor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:3177	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:dorsal root ganglia (GK/KyoSwe)	PMID:12469361|REF_RGD_ID:5508379
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12105986	STKLD1	serine/threonine kinase like domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106009	NLGN3	neuroligin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106009	NLGN3	neuroligin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733571	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12106009	NLGN3	neuroligin 3	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:733571	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	
12106009	NLGN3	neuroligin 3	gene	DOID:1059	intellectual disability		ISO	RGD:733571	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25167861|PMID:25741868
12106009	NLGN3	neuroligin 3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:621119	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:sciatic nerve	PMID:17492651|REF_RGD_ID:9831149
12106009	NLGN3	neuroligin 3	gene	DOID:12849	autistic disorder		ISO	RGD:733571	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 | ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: NLGN3-related condition	PMID:12669065|PMID:15150161|PMID:15152050|PMID:25741868|PMID:28492532|PMID:31184401|PMID:35012288
12106009	NLGN3	neuroligin 3	gene	DOID:12849	autistic disorder		ISO	RGD:733571	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTISM, SUSCEPTIBILITY TO, X-LINKED 1 | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 1 | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: NLGN3-related condition	PMID:25741868|PMID:28492532|PMID:35012288
12106009	NLGN3	neuroligin 3	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:733571	D	RGD:7240710	20190502	OMIM			
12106009	NLGN3	neuroligin 3	gene	DOID:1826	epilepsy		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
12106009	NLGN3	neuroligin 3	gene	DOID:1909	melanoma		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106009	NLGN3	neuroligin 3	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:733571	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	
12106009	NLGN3	neuroligin 3	gene	DOID:3070	high grade glioma		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12106009	NLGN3	neuroligin 3	gene	DOID:3275	thymoma		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106009	NLGN3	neuroligin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106009	NLGN3	neuroligin 3	gene	DOID:630	genetic disease		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23849776
12106009	NLGN3	neuroligin 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733571	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: X-linked complex neurodevelopmental disorder	PMID:25741868|PMID:31184401
12106009	NLGN3	neuroligin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106009	NLGN3	neuroligin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:1115	sarcoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:1324	lung cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:3275	thymoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:4362	cervical cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106029	PPIE	peptidylprolyl isomerase E	gene	DOID:9256	colorectal cancer		ISO	RGD:1322860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12106043	DNAJC5G	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:10534	stomach cancer		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106043	DNAJC5G	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106043	DNAJC5G	DnaJ heat shock protein family (Hsp40) member C5 gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106063	PRR5	proline rich 5	gene	DOID:3275	thymoma		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106063	PRR5	proline rich 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106063	PRR5	proline rich 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106093	ZNF114	zinc finger protein 114	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106093	ZNF114	zinc finger protein 114	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1346285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:1909	melanoma		ISO	RGD:1346285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346285	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106103	MTRES1	mitochondrial transcription rescue factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106114	MRPL51	mitochondrial ribosomal protein L51	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106114	MRPL51	mitochondrial ribosomal protein L51	gene	DOID:0080600	COVID-19		ISO	RGD:1315444	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12106114	MRPL51	mitochondrial ribosomal protein L51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106114	MRPL51	mitochondrial ribosomal protein L51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106122	PRDM14	PR/SET domain 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106122	PRDM14	PR/SET domain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106122	PRDM14	PR/SET domain 14	gene	DOID:1324	lung cancer		ISO	RGD:1316344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106122	PRDM14	PR/SET domain 14	gene	DOID:1909	melanoma		ISO	RGD:1316344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106122	PRDM14	PR/SET domain 14	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1316344	D	RGD:9068941	20220708	RGD		DNA:hypermethylation	PMID:27777637|REF_RGD_ID:152998954
12106122	PRDM14	PR/SET domain 14	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1316344	D	RGD:9068941	20211210	RGD			PMID:23690269|REF_RGD_ID:150530468
12106122	PRDM14	PR/SET domain 14	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1316344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23666240
12106122	PRDM14	PR/SET domain 14	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19043588
12106137	EDARADD	EDAR associated death domain	gene	DOID:0050591	tooth agenesis		ISO	RGD:1351297	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tooth agenesis	PMID:25741868
12106137	EDARADD	EDAR associated death domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111653	ectodermal dysplasia 11A		ISO	RGD:1351297	D	RGD:7240710	20180130	OMIM			
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111653	ectodermal dysplasia 11A		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	PMID:11780064|PMID:17354266|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25640679|PMID:25741868|PMID:26440664|PMID:28492532|PMID:33502802|PMID:34219261|PMID:34573371
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111654	ectodermal dysplasia 11B		ISO	RGD:1351297	D	RGD:7240710	20180130	OMIM			
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111654	ectodermal dysplasia 11B		ISO	RGD:1351297	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	PMID:11780064|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:26440664|PMID:26991760|PMID:28492532|PMID:33502802|PMID:34219261
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant	PMID:20222921
12106137	EDARADD	EDAR associated death domain	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1351297	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	PMID:25741868
12106137	EDARADD	EDAR associated death domain	gene	DOID:10534	stomach cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106137	EDARADD	EDAR associated death domain	gene	DOID:10754	otitis media		ISO	RGD:1564010	D	RGD:9068941	20200609	RGD			PMID:31028034|REF_RGD_ID:14398763
12106137	EDARADD	EDAR associated death domain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106137	EDARADD	EDAR associated death domain	gene	DOID:1115	sarcoma		ISO	RGD:1351297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106137	EDARADD	EDAR associated death domain	gene	DOID:1324	lung cancer		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106137	EDARADD	EDAR associated death domain	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia	PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532
12106137	EDARADD	EDAR associated death domain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic Ectodermal Dysplasia, Recessive	PMID:25741868|PMID:28492532
12106137	EDARADD	EDAR associated death domain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:11212737|PMID:20222921|PMID:20979233|PMID:21626677|PMID:25741868|PMID:28492532
12106137	EDARADD	EDAR associated death domain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106137	EDARADD	EDAR associated death domain	gene	DOID:630	genetic disease		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12106137	EDARADD	EDAR associated death domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106137	EDARADD	EDAR associated death domain	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1351297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12106137	EDARADD	EDAR associated death domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351297	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:1909	melanoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:3275	thymoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:9000918	Disease Progression		ISO	RGD:1350146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106165	ABCC11	ATP binding cassette subfamily C member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:7240710	20190410	OMIM			
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:0111952	immunodeficiency 57		ISO	RGD:1320896	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION | ClinVar Annotator: match by term: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome | ClinVar Annotator: match by term: Immunodeficiency 57	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320897	D	RGD:9068941	20200609	RGD			PMID:22908283|REF_RGD_ID:7777166
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:13250	diarrhea		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320896	D	RGD:9068941	20200609	RGD			PMID:19778795|REF_RGD_ID:7777170
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:1826	epilepsy	ameliorates	ISO	RGD:1310158	D	RGD:9068941	20230216	RGD			PMID:32308116|REF_RGD_ID:156420143
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:31827280|PMID:31827281|PMID:35716229
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:820	myocarditis		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:7240710	20200708	OMIM			
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9004604	Autoinflammation with Episodic Fever and Lymphadenopathy		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY | ClinVar Annotator: match by term: Autoinflammation with episodic fever and lymphadenopathy | ClinVar Annotator: match by term: RIPK1-related condition	PMID:25741868|PMID:28492532|PMID:30591564|PMID:31827280|PMID:31827281|PMID:32181283|PMID:35716229|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:28492532|PMID:30591564|PMID:32181283|PMID:36466854|PMID:36939041
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106239	RIPK1	receptor interacting serine/threonine kinase 1	gene	DOID:9201	lichen planus		ISO	RGD:1320896	D	RGD:9068941	20200609	RGD			PMID:20368033|REF_RGD_ID:7777168
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:1909	melanoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:3275	thymoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106303	LENG1	leukocyte receptor cluster member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:1115	sarcoma		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:12849	autistic disorder		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:1826	epilepsy		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizure	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:3454	brain infarction		ISO	RGD:61922	D	RGD:9068941	20230527	RGD		mRNA:increased expression:brain (rat)	PMID:23251410|REF_RGD_ID:329845556
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1601888	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12106311	SCN7A	sodium voltage-gated channel alpha subunit 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1601888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:0060058	lymphoma		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:1909	melanoma		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106348	CLEC17A	C-type lectin domain containing 17A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106395	AVP	arginine vasopressin	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:2184	D	RGD:9068941	20241212	RGD		mRNA:decreased expression:hypothalamic nucleus	PMID:15142835|REF_RGD_ID:596933086
12106395	AVP	arginine vasopressin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12145768
12106395	AVP	arginine vasopressin	gene	DOID:0050741	alcohol dependence		ISO	RGD:2184	D	RGD:9068941	20241205	RGD		mRNA:increased expression:paraventricular nucleus of hypothalamus	PMID:9622448|REF_RGD_ID:529435544
12106395	AVP	arginine vasopressin	gene	DOID:0050741	alcohol dependence		ISO	RGD:68968	D	RGD:9068941	20241121	RGD		protein:decreased expression:cerebrospinal fluid	PMID:7106059|REF_RGD_ID:408426006
12106395	AVP	arginine vasopressin	gene	DOID:0050741	alcohol dependence		ISO	RGD:68968	D	RGD:9068941	20241219	RGD		protein:decreased expression:blood plasma	PMID:15608610|REF_RGD_ID:596933105
12106395	AVP	arginine vasopressin	gene	DOID:0051061	stroke		ISO	RGD:68968	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:15897635|REF_RGD_ID:1601304
12106395	AVP	arginine vasopressin	gene	DOID:0060001	withdrawal disorder		ISO	RGD:2184	D	RGD:9068941	20241121	RGD		associated with cocaine abuse;mRNA:increased expression:paraventricular nucleus of hypothalamus	PMID:21677651|REF_RGD_ID:408418732
12106395	AVP	arginine vasopressin	gene	DOID:0060001	withdrawal disorder		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:4040330
12106395	AVP	arginine vasopressin	gene	DOID:10762	portal hypertension		ISO	RGD:2184	D	RGD:9068941	20200609	RGD			PMID:18987488|REF_RGD_ID:2301924
12106395	AVP	arginine vasopressin	gene	DOID:10762	portal hypertension		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:6696534
12106395	AVP	arginine vasopressin	gene	DOID:10763	hypertension		ISO	RGD:2184	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery	PMID:12623976|REF_RGD_ID:1601305
12106395	AVP	arginine vasopressin	gene	DOID:10763	hypertension		ISO	RGD:2184	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16582573|REF_RGD_ID:1601243
12106395	AVP	arginine vasopressin	gene	DOID:10763	hypertension		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1663982|PMID:19133994|PMID:3346065|PMID:4040330|PMID:6367368
12106395	AVP	arginine vasopressin	gene	DOID:10914	amnestic disorder		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7562510
12106395	AVP	arginine vasopressin	gene	DOID:10915	Wernicke-Korsakoff syndrome		ISO	RGD:68968	D	RGD:9068941	20241212	RGD		associated with alcohol dependence;protein:increased expression:plasma	PMID:7662042|REF_RGD_ID:596933082
12106395	AVP	arginine vasopressin	gene	DOID:10915	Wernicke-Korsakoff syndrome		ISO	RGD:68968	D	RGD:9068941	20241219	RGD		protein:decreased expression:cerebrospinal fluid	PMID:2425205|REF_RGD_ID:596933106
12106395	AVP	arginine vasopressin	gene	DOID:11206	opioid abuse	susceptibility	ISO	RGD:68968	D	RGD:9068941	20250227	RGD		DNA:SNP:intron: (rs2282018) (human)	PMID:24766650|REF_RGD_ID:401976505
12106395	AVP	arginine vasopressin	gene	DOID:12388	neurohypophyseal diabetes insipidus		ISO	RGD:68968	D	RGD:7240710	20180130	OMIM			
12106395	AVP	arginine vasopressin	gene	DOID:12388	neurohypophyseal diabetes insipidus		ISO	RGD:68968	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AVP-related condition | ClinVar Annotator: match by term: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL | ClinVar Annotator: match by term: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL TYPE | ClinVar Annotator: match by term: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: DIABETES INSIPIDUS, PRIMARY CENTRAL | ClinVar Annotator: match by term: Neurohypophyseal diabetes insipidus	PMID:10085151|PMID:11017955|PMID:11443218|PMID:11980620|PMID:14673472|PMID:15070970|PMID:16093448|PMID:19129716|PMID:25654069|PMID:25741868|PMID:27513365|PMID:27539621|PMID:28008190|PMID:28476225|PMID:28492532|PMID:31238300|PMID:34718110|PMID:8045958|PMID:8626836|PMID:8706292|PMID:9814475
12106395	AVP	arginine vasopressin	gene	DOID:12849	autistic disorder		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8570775
12106395	AVP	arginine vasopressin	gene	DOID:1574	alcohol use disorder		ISO	RGD:2184	D	RGD:9068941	20241107	RGD		mRNA:altered expression:central amygdaloid nucleus, medial amygdaloid nucleus, medial zone of hypothalamus	PMID:21575018|REF_RGD_ID:408364978
12106395	AVP	arginine vasopressin	gene	DOID:1574	alcohol use disorder		ISO	RGD:2184	D	RGD:9068941	20241212	RGD		protein:decreased expression:suprachiasmatic nucleus	PMID:11709626|REF_RGD_ID:596933084
12106395	AVP	arginine vasopressin	gene	DOID:2030	anxiety disorder		ISO	RGD:2184	D	RGD:9068941	20241121	RGD			PMID:31386210|REF_RGD_ID:408425978
12106395	AVP	arginine vasopressin	gene	DOID:2468	psychotic disorder		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3567260
12106395	AVP	arginine vasopressin	gene	DOID:2559	opiate dependence		ISO	RGD:68968	D	RGD:9068941	20241212	RGD		protein:decreased expression:serum	PMID:23406607|REF_RGD_ID:596933090
12106395	AVP	arginine vasopressin	gene	DOID:3021	acute kidney failure		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2139164
12106395	AVP	arginine vasopressin	gene	DOID:326	ischemia		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10440088|PMID:2139164
12106395	AVP	arginine vasopressin	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2184	D	RGD:9068941	20200609	RGD			PMID:12438923|REF_RGD_ID:1579871
12106395	AVP	arginine vasopressin	gene	DOID:3401	inappropriate ADH syndrome		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:112579|PMID:6920297
12106395	AVP	arginine vasopressin	gene	DOID:4195	hyperglycemia		ISO	RGD:2184	D	RGD:9068941	20200609	RGD			PMID:16497839|REF_RGD_ID:1601303
12106395	AVP	arginine vasopressin	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2832203
12106395	AVP	arginine vasopressin	gene	DOID:5419	schizophrenia		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3567260
12106395	AVP	arginine vasopressin	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:68968	D	RGD:9068941	20241212	RGD		DNA:SNP, indel, SNP:introns, 3' utr: (rs3787482, AVP3011589, rs2740204)	PMID:21899794|REF_RGD_ID:596933071
12106395	AVP	arginine vasopressin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106395	AVP	arginine vasopressin	gene	DOID:6000	congestive heart failure		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18179782
12106395	AVP	arginine vasopressin	gene	DOID:630	genetic disease		ISO	RGD:68968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10677561|PMID:11980620|PMID:18494865|PMID:19129716|PMID:25741868|PMID:28492532
12106395	AVP	arginine vasopressin	gene	DOID:8725	vascular dementia		ISO	RGD:2184	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:18925713|REF_RGD_ID:2303174
12106395	AVP	arginine vasopressin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6983645
12106395	AVP	arginine vasopressin	gene	DOID:9000483	Angina Pectoris		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11128043|PMID:11791009
12106395	AVP	arginine vasopressin	gene	DOID:9000641	Pain		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2271928|PMID:6094376
12106395	AVP	arginine vasopressin	gene	DOID:9001189	Drug Overdose		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11914425
12106395	AVP	arginine vasopressin	gene	DOID:9002211	Hyperalgesia		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9613798
12106395	AVP	arginine vasopressin	gene	DOID:9002322	Shy-Drager Syndrome		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6850280
12106395	AVP	arginine vasopressin	gene	DOID:9002549	Shock		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10570779
12106395	AVP	arginine vasopressin	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2184	D	RGD:9068941	20241212	RGD		protein:decreased expression:suprachiasmatic nucleus	PMID:11709626|REF_RGD_ID:596933084
12106395	AVP	arginine vasopressin	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:68968	D	RGD:9068941	20241219	RGD		DNA:hypermethylation:promoter	PMID:24356727|REF_RGD_ID:596933307
12106395	AVP	arginine vasopressin	gene	DOID:9004602	Exsanguination		ISO	RGD:2184	D	RGD:9068941	20241212	RGD		protein:increased expression:plasma	PMID:21849630|REF_RGD_ID:596933066
12106395	AVP	arginine vasopressin	gene	DOID:9004965	opiate withdrawal syndrome		ISO	RGD:2184	D	RGD:9068941	20241107	RGD		mRNA:increased expression:amygdala	PMID:17443128|REF_RGD_ID:408364980
12106395	AVP	arginine vasopressin	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:10220	D	RGD:9068941	20241212	RGD		protein:increased expression:hippocampal formation	PMID:3556459|REF_RGD_ID:596933083
12106395	AVP	arginine vasopressin	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2184	D	RGD:9068941	20241212	RGD		mRNA:increased expression:hypothalamus	PMID:23805290|REF_RGD_ID:407572522
12106395	AVP	arginine vasopressin	gene	DOID:9005274	Polyuria		ISO	RGD:2184	D	RGD:9068941	20201211	RGD			PMID:10919858|REF_RGD_ID:2314654
12106395	AVP	arginine vasopressin	gene	DOID:9005274	Polyuria		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11012637
12106395	AVP	arginine vasopressin	gene	DOID:9005632	Cocaine-Related Disorders	susceptibility	ISO	RGD:68968	D	RGD:9068941	20250227	RGD		DNA:SNP:intron: (rs2282018) (human)	PMID:24766650|REF_RGD_ID:401976505
12106395	AVP	arginine vasopressin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10220	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus	PMID:18420743|REF_RGD_ID:2301919
12106395	AVP	arginine vasopressin	gene	DOID:9006024	Hypotension		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11171655|PMID:12019395|PMID:17357383|PMID:2485266|PMID:3544871
12106395	AVP	arginine vasopressin	gene	DOID:9006635	Hyponatremia		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6920297
12106395	AVP	arginine vasopressin	gene	DOID:9006635	Hyponatremia		ISO	RGD:68968	D	RGD:9068941	20200609	RGD			PMID:12590641|REF_RGD_ID:1579880
12106395	AVP	arginine vasopressin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68968	D	RGD:9068941	20241107	RGD		DNA:SNP:intron: (rs2282018)	PMID:28462386|REF_RGD_ID:408364979
12106395	AVP	arginine vasopressin	gene	DOID:9007956	Febrile Seizures		ISO	RGD:2184	D	RGD:9068941	20200609	RGD			PMID:12438923|REF_RGD_ID:1579871
12106395	AVP	arginine vasopressin	gene	DOID:9007993	Dehydration		ISO	RGD:2184	D	RGD:9068941	20200609	RGD		mRNA:increased expression:paraventricular hypothalamic nucleus, supraoptic nucleus	PMID:17393298|REF_RGD_ID:2304139
12106395	AVP	arginine vasopressin	gene	DOID:9007993	Dehydration		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2554359
12106395	AVP	arginine vasopressin	gene	DOID:9008023	Memory Disorders		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11553362
12106395	AVP	arginine vasopressin	gene	DOID:9008644	Dysmenorrhea		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10440088
12106395	AVP	arginine vasopressin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106395	AVP	arginine vasopressin	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:68968	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:6983645
12106395	AVP	arginine vasopressin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2184	D	RGD:9068941	20200609	RGD		protein:increased expression:hypothalamus	PMID:17940875|REF_RGD_ID:2301922
12106395	AVP	arginine vasopressin	gene	DOID:9409	diabetes insipidus		ISO	RGD:68968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868|PMID:27513365|PMID:28008190|PMID:28492532
12106395	AVP	arginine vasopressin	gene	DOID:9409	diabetes insipidus	treatment	ISO	RGD:2184	D	RGD:9068941	20210917	RGD			PMID:9396613|REF_RGD_ID:150429657
12106395	AVP	arginine vasopressin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:2184	D	RGD:9068941	20210226	RGD			PMID:13995944|PMID:5692127|REF_RGD_ID:2314661|REF_RGD_ID:632128
12106395	AVP	arginine vasopressin	gene	DOID:9975	cocaine dependence		ISO	RGD:2184	D	RGD:9068941	20241121	RGD		protein:increased expression:nucleus accumbens	PMID:19596360|REF_RGD_ID:408426004
12106402	DDX1	DEAD-box helicase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:737232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248470
12106402	DDX1	DEAD-box helicase 1	gene	DOID:10534	stomach cancer		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:1115	sarcoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:1324	lung cancer		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:303	substance-related disorder		ISO	RGD:737232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12106402	DDX1	DEAD-box helicase 1	gene	DOID:4362	cervical cancer		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:737232	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737232	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:24183723
12106402	DDX1	DEAD-box helicase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106402	DDX1	DEAD-box helicase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106440	EXOSC8	exosome component 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106440	EXOSC8	exosome component 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106440	EXOSC8	exosome component 8	gene	DOID:0050952	spastic ataxia		ISO	RGD:1314633	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12106440	EXOSC8	exosome component 8	gene	DOID:0112334	pontocerebellar hypoplasia type 1C		ISO	RGD:1314633	D	RGD:7240710	20180130	OMIM			
12106440	EXOSC8	exosome component 8	gene	DOID:0112334	pontocerebellar hypoplasia type 1C		ISO	RGD:1314633	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: EXOSC8-related condition | ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 1C | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1C | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 1c	PMID:24989451|PMID:25741868|PMID:28492532|PMID:29431110|PMID:30581635|PMID:31664448|PMID:31980526|PMID:38622473
12106440	EXOSC8	exosome component 8	gene	DOID:1115	sarcoma		ISO	RGD:1314633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106440	EXOSC8	exosome component 8	gene	DOID:1324	lung cancer		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106440	EXOSC8	exosome component 8	gene	DOID:1909	melanoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106440	EXOSC8	exosome component 8	gene	DOID:3275	thymoma		ISO	RGD:1314633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106440	EXOSC8	exosome component 8	gene	DOID:4362	cervical cancer		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106440	EXOSC8	exosome component 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106440	EXOSC8	exosome component 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106440	EXOSC8	exosome component 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:10283	prostate cancer		ISO	RGD:1320657	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:1909	melanoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:3070	high grade glioma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320657	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:5419	schizophrenia		ISO	RGD:1320657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1320657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106462	SBNO1	strawberry notch homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106519	BIN1	bridging integrator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106519	BIN1	bridging integrator 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:22960267|PMID:25741868|PMID:28492532
12106519	BIN1	bridging integrator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106519	BIN1	bridging integrator 1	gene	DOID:0111216	autosomal recessive centronuclear myopathy		IAGP		D	RGD:12801476	20210603	OMIA		Centronuclear myopathy 2, BIN1-related	PMID:16674719|PMID:19135395|PMID:18271825|PMID:17017655|PMID:3680647|PMID:23754947
12106519	BIN1	bridging integrator 1	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:732350	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive centronuclear myopathy | ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myopathy, centronuclear, autosomal recessive	PMID:18414213|PMID:22912834|PMID:24033266|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:31127772
12106519	BIN1	bridging integrator 1	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:732350	D	RGD:7240710	20180130	OMIM			
12106519	BIN1	bridging integrator 1	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:732350	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BIN1-related condition | ClinVar Annotator: match by term: MYOPATHY, CENTRONUCLEAR, 2 | ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:16199547|PMID:17576681|PMID:17676042|PMID:18414213|PMID:20142620|PMID:22912834|PMID:24033266|PMID:24755653|PMID:25260562|PMID:25262827|PMID:25640679|PMID:25741868|PMID:26101835|PMID:26467025|PMID:28492532|PMID:28687524|PMID:29103045|PMID:29950440|PMID:31127772|PMID:9536098
12106519	BIN1	bridging integrator 1	gene	DOID:10534	stomach cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106519	BIN1	bridging integrator 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732350	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:21460841|PMID:33589840
12106519	BIN1	bridging integrator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106519	BIN1	bridging integrator 1	gene	DOID:1324	lung cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106519	BIN1	bridging integrator 1	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:732350	D	RGD:9068941	20200609	RGD			PMID:12532338|REF_RGD_ID:1580047
12106519	BIN1	bridging integrator 1	gene	DOID:3275	thymoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106519	BIN1	bridging integrator 1	gene	DOID:3459	breast carcinoma		ISO	RGD:732350	D	RGD:9068941	20200609	RGD			PMID:10652430|REF_RGD_ID:1580043
12106519	BIN1	bridging integrator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106519	BIN1	bridging integrator 1	gene	DOID:422	congenital structural myopathy		ISO	RGD:732350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17676042
12106519	BIN1	bridging integrator 1	gene	DOID:4362	cervical cancer		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106519	BIN1	bridging integrator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732350	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106519	BIN1	bridging integrator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106519	BIN1	bridging integrator 1	gene	DOID:630	genetic disease		ISO	RGD:732350	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12106519	BIN1	bridging integrator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106519	BIN1	bridging integrator 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30503753
12106519	BIN1	bridging integrator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106519	BIN1	bridging integrator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:732626	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:1324	lung cancer		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:3224	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:20814153|REF_RGD_ID:7243879
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:3224	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:19002567|REF_RGD_ID:7243885
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:1909	melanoma		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:1920	hyperuricemia	treatment	ISO	RGD:737278	D	RGD:9068941	20200609	RGD			PMID:21154198|PMID:21909718|REF_RGD_ID:7243180|REF_RGD_ID:7244192
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:2841	asthma		ISO	RGD:3224	D	RGD:9068941	20200609	RGD			PMID:17328924|REF_RGD_ID:5686690
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:3224	D	RGD:9068941	20200609	RGD			PMID:22414646|REF_RGD_ID:7243179
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:737278	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:23228442|REF_RGD_ID:7243178
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3224	D	RGD:9068941	20200609	RGD			PMID:14718608|REF_RGD_ID:2317435
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3224	D	RGD:9068941	20200609	RGD			PMID:18313662|REF_RGD_ID:7243881
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3224	D	RGD:9068941	20200609	RGD			PMID:21835768|REF_RGD_ID:7243877
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106549	SLC22A1	solute carrier family 22 member 1	gene	DOID:9970	obesity		ISO	RGD:732626	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20956498
12106564	SHOX2	SHOX homeobox 2	gene	DOID:0060847	Leri-Weill dyschondrosteosis		ISO	RGD:11290	D	RGD:9068941	20220825	MouseDO		OMIM:127300	
12106564	SHOX2	SHOX homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:736918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106564	SHOX2	SHOX homeobox 2	gene	DOID:1324	lung cancer		ISO	RGD:736918	D	RGD:9068941	20200609	RGD			PMID:25331797|REF_RGD_ID:12859082
12106564	SHOX2	SHOX homeobox 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736918	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12106564	SHOX2	SHOX homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12106564	SHOX2	SHOX homeobox 2	gene	DOID:674	cleft palate		ISO	RGD:11290	D	RGD:9068941	20200609	RGD			PMID:16141225|REF_RGD_ID:12859081
12106575	RRS1	ribosome biogenesis regulator 1 homolog	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12106575	RRS1	ribosome biogenesis regulator 1 homolog	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1322847	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1350138	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:303	substance-related disorder		ISO	RGD:1350138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106580	PLA2R1	phospholipase A2 receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1318602	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26437031
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0070796	ICHAD syndrome		ISO	RGD:1318602	D	RGD:7240710	20250730	OMIM			
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0070796	ICHAD syndrome		ISO	RGD:1318602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ICHAD SYNDROME | ClinVar Annotator: match by term: ICHAD syndrome	PMID:25741868|PMID:30311386|PMID:37316189|PMID:39406892
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0070797	immunodysregulation with variable immunodeficiency and autoimmunity		ISO	RGD:1318602	D	RGD:7240710	20250730	OMIM			
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0070797	immunodysregulation with variable immunodeficiency and autoimmunity		ISO	RGD:1318602	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODYSREGULATION WITH VARIABLE IMMUNODEFICIENCY AND AUTOIMMUNITY	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:0080600	COVID-19		ISO	RGD:1318602	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1318602	D	RGD:9068941	20220204	RGD		protein:decreased expression:venous blood, lung, regulatory T cell (human)	PMID:26460798|REF_RGD_ID:151347635
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106615	IKZF2	IKAROS family zinc finger 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1318602	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334668
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:0060058	lymphoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:1115	sarcoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:1324	lung cancer		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:1909	melanoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:3275	thymoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:4362	cervical cancer		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:5041	esophageal cancer		ISO	RGD:736662	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106647	MEGF6	multiple EGF like domains 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:1909	melanoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:3275	thymoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:5041	esophageal cancer		ISO	RGD:1342451	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12106689	GALNT17	polypeptide N-acetylgalactosaminyltransferase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106704	RGS8	regulator of G protein signaling 8	gene	DOID:1324	lung cancer		ISO	RGD:737105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106704	RGS8	regulator of G protein signaling 8	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3571	D	RGD:9068941	20200609	RGD			PMID:12358788|REF_RGD_ID:13524540
12106730	LOC491316	midkine	gene	DOID:3454	brain infarction		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:15450683|REF_RGD_ID:1582478
12106730	LOC491316	midkine	gene	DOID:4248	coronary stenosis		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:10683378|REF_RGD_ID:1299187
12106730	LOC491316	midkine	gene	DOID:5419	schizophrenia		ISO	RGD:69143	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12106730	LOC491316	midkine	gene	DOID:5844	myocardial infarction		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:9568069|REF_RGD_ID:1582488
12106730	LOC491316	midkine	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:69143	D	RGD:9068941	20200609	RGD			PMID:15146411|REF_RGD_ID:1581200
12106730	LOC491316	midkine	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69073	D	RGD:9068941	20200609	RGD			PMID:9814819|REF_RGD_ID:9831448
12106730	LOC491316	midkine	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69143	D	RGD:9068941	20200609	RGD			PMID:15780085|REF_RGD_ID:1582475
12106732	HDAC4	histone deacetylase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:0050581	brachydactyly		ISO	RGD:1316832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20691407
12106732	HDAC4	histone deacetylase 4	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:619979	D	RGD:9068941	20240201	RGD		mRNA,protein:increased expression:pituitary gland (rat)	PMID:26509893|REF_RGD_ID:11344152
12106732	HDAC4	histone deacetylase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:0051061	stroke		ISO	RGD:619979	D	RGD:9068941	20200609	RGD			PMID:24657831|REF_RGD_ID:9590303
12106732	HDAC4	histone deacetylase 4	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly-Mental Retardation syndrome | ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome	PMID:25741868
12106732	HDAC4	histone deacetylase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106732	HDAC4	histone deacetylase 4	gene	DOID:1059	intellectual disability		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome	PMID:25741868|PMID:28492532
12106732	HDAC4	histone deacetylase 4	gene	DOID:10907	microcephaly		ISO	RGD:1316832	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12106732	HDAC4	histone deacetylase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106732	HDAC4	histone deacetylase 4	gene	DOID:1115	sarcoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1550759	D	RGD:9068941	20200609	RGD		mRNA:increased expression:muscle:	PMID:22798624|REF_RGD_ID:9681458
12106732	HDAC4	histone deacetylase 4	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus:	PMID:22466704|REF_RGD_ID:9681455
12106732	HDAC4	histone deacetylase 4	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1550759	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus:	PMID:22466704|REF_RGD_ID:9681455
12106732	HDAC4	histone deacetylase 4	gene	DOID:12704	ataxia telangiectasia	treatment	ISO	RGD:1316832	D	RGD:9068941	20200609	RGD			PMID:22466704|REF_RGD_ID:9681455
12106732	HDAC4	histone deacetylase 4	gene	DOID:1324	lung cancer		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106732	HDAC4	histone deacetylase 4	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1316832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22711276
12106732	HDAC4	histone deacetylase 4	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1316832	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12106732	HDAC4	histone deacetylase 4	gene	DOID:1826	epilepsy		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12106732	HDAC4	histone deacetylase 4	gene	DOID:1875	impotence		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		protein:increased expression:penis:	PMID:24636283|REF_RGD_ID:9590194
12106732	HDAC4	histone deacetylase 4	gene	DOID:1909	melanoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1550759	D	RGD:9068941	20230330	RGD			PMID:35854140|REF_RGD_ID:242905195
12106732	HDAC4	histone deacetylase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:2773	contact dermatitis		ISO	RGD:1316832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12106732	HDAC4	histone deacetylase 4	gene	DOID:3275	thymoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:1316832	D	RGD:9068941	20200609	RGD			PMID:23824486|REF_RGD_ID:9681450
12106732	HDAC4	histone deacetylase 4	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:619979	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:brain:	PMID:23480850|REF_RGD_ID:9681449
12106732	HDAC4	histone deacetylase 4	gene	DOID:3627	aortic aneurysm		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:aorta:	PMID:19389706|REF_RGD_ID:9681448
12106732	HDAC4	histone deacetylase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106732	HDAC4	histone deacetylase 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316832	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106732	HDAC4	histone deacetylase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12106732	HDAC4	histone deacetylase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:630	genetic disease		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12106732	HDAC4	histone deacetylase 4	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:22711276|REF_RGD_ID:9590133
12106732	HDAC4	histone deacetylase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:1316832	D	RGD:9068941	20200609	RGD			PMID:19131628|REF_RGD_ID:9681456
12106732	HDAC4	histone deacetylase 4	gene	DOID:8670	eating disorder		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:24216484|REF_RGD_ID:9681452
12106732	HDAC4	histone deacetylase 4	gene	DOID:8670	eating disorder		ISO	RGD:1550759	D	RGD:9068941	20220825	MouseDO			
12106732	HDAC4	histone deacetylase 4	gene	DOID:9000784	Fibrosis		ISO	RGD:619979	D	RGD:9068941	20200609	RGD		protein:increased expression:penis:	PMID:24636283|REF_RGD_ID:9590194
12106732	HDAC4	histone deacetylase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12106732	HDAC4	histone deacetylase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1550759	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12106732	HDAC4	histone deacetylase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:619979	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:24717296|REF_RGD_ID:9590311
12106732	HDAC4	histone deacetylase 4	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:619979	D	RGD:9068941	20200609	RGD			PMID:24717296|REF_RGD_ID:9590311
12106732	HDAC4	histone deacetylase 4	gene	DOID:9002661	Diabetes Complications		ISO	RGD:1316832	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35554780
12106732	HDAC4	histone deacetylase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316832	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9004484	Sepsis		ISO	RGD:619979	D	RGD:9068941	20200609	RGD			PMID:23925573|REF_RGD_ID:9681446
12106732	HDAC4	histone deacetylase 4	gene	DOID:9004992	Apnea		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: apnea	PMID:10958686|PMID:11486037|PMID:25741868|PMID:33537682
12106732	HDAC4	histone deacetylase 4	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1316832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17988634
12106732	HDAC4	histone deacetylase 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619979	D	RGD:9068941	20200609	RGD		protein:increased activity:renal cortex:	PMID:19553350|REF_RGD_ID:9590229
12106732	HDAC4	histone deacetylase 4	gene	DOID:9005754	Hypoalgesia		ISO	RGD:1550759	D	RGD:9068941	20200609	RGD			PMID:19672313|REF_RGD_ID:9681457
12106732	HDAC4	histone deacetylase 4	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:619979	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery:	PMID:19389706|REF_RGD_ID:9681448
12106732	HDAC4	histone deacetylase 4	gene	DOID:9006432	Brachydactyly, Type E		ISO	RGD:1316832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24715439
12106732	HDAC4	histone deacetylase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9007607	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:1316832	D	RGD:7240710	20220511	OMIM			
12106732	HDAC4	histone deacetylase 4	gene	DOID:9007607	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HDAC4-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with central hypotonia and dysmorphic facies	PMID:25741868|PMID:28492532|PMID:33537682
12106732	HDAC4	histone deacetylase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9538	multiple myeloma		ISO	RGD:1316832	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12106732	HDAC4	histone deacetylase 4	gene	DOID:9884	muscular dystrophy		ISO	RGD:1316832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532
12106732	HDAC4	histone deacetylase 4	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:1316832	D	RGD:9068941	20200609	RGD			PMID:23948281|REF_RGD_ID:9681454
12106732	HDAC4	histone deacetylase 4	gene	DOID:9970	obesity		ISO	RGD:1316832	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:mononuclear cell, adipose tissue:	PMID:24086512|REF_RGD_ID:9681453
12106761	ELN	elastin	gene	DOID:0002116	pterygium		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctiva:	PMID:11021831|REF_RGD_ID:9585733
12106761	ELN	elastin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:11175284|PMID:16199547|PMID:28492532
12106761	ELN	elastin	gene	DOID:0050581	brachydactyly		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:28492532
12106761	ELN	elastin	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:28492532
12106761	ELN	elastin	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:28492532
12106761	ELN	elastin	gene	DOID:0050922	gastrointestinal carcinoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastrointestinal carcinoma	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106761	ELN	elastin	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:28492532
12106761	ELN	elastin	gene	DOID:0060320	inguinal hernia		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:0070130	autosomal dominant cutis laxa 1		ISO	RGD:736469	D	RGD:7240710	20180418	OMIM			
12106761	ELN	elastin	gene	DOID:0070130	autosomal dominant cutis laxa 1		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 1 | ClinVar Annotator: match by term: ELN-related disorder | ClinVar Annotator: match by term: cutis laxa, autosomal dominant 1	PMID:11175284|PMID:16085695|PMID:17576681|PMID:19029017|PMID:19593948|PMID:20600892|PMID:21309044|PMID:25741868|PMID:28492532|PMID:29907982|PMID:39402625|PMID:9536098|PMID:9873040
12106761	ELN	elastin	gene	DOID:0070142	autosomal dominant cutis laxa		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal dominant	PMID:10942104|PMID:18348261|PMID:21309044|PMID:25741868|PMID:28492532|PMID:31829210|PMID:9215671
12106761	ELN	elastin	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:10190538|PMID:19844261|PMID:28492532|PMID:9215671
12106761	ELN	elastin	gene	DOID:0080745	polymyositis		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:12643515|REF_RGD_ID:9585739
12106761	ELN	elastin	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:67394	D	RGD:9068941	20200609	RGD			PMID:21478483|REF_RGD_ID:7207865
12106761	ELN	elastin	gene	DOID:0111536	Buschke-Ollendorff syndrome		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:1629625|REF_RGD_ID:9585749
12106761	ELN	elastin	gene	DOID:10325	silicosis		ISO	RGD:67394	D	RGD:9068941	20200609	RGD		protein:increased expression:lung connective tissue:	PMID:7573374|REF_RGD_ID:9585691
12106761	ELN	elastin	gene	DOID:10534	stomach cancer		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12106761	ELN	elastin	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:1526740|REF_RGD_ID:9585735
12106761	ELN	elastin	gene	DOID:10763	hypertension		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17039479
12106761	ELN	elastin	gene	DOID:10825	essential hypertension		ISO	RGD:733666	D	RGD:9068941	20220825	MouseDO		OMIM:145500 | OMIM:603918 | OMIM:604329 | OMIM:607329 | OMIM:608742 | OMIM:610261 | OMIM:610262 | OMIM:610948 | OMIM:611014	
12106761	ELN	elastin	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		DNA:SNPintron: rs2301995(human)	PMID:22065928|REF_RGD_ID:7387224
12106761	ELN	elastin	gene	DOID:10873	Kuhnt-Junius degeneration	no_association	ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:18326737|REF_RGD_ID:9585729
12106761	ELN	elastin	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
12106761	ELN	elastin	gene	DOID:12849	autistic disorder		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12106761	ELN	elastin	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:increased expression:blood:	PMID:8763587|REF_RGD_ID:9585753
12106761	ELN	elastin	gene	DOID:1324	lung cancer		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:17576681|PMID:28492532|PMID:9536098
12106761	ELN	elastin	gene	DOID:13375	temporal arteritis		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:9101501|REF_RGD_ID:9585754
12106761	ELN	elastin	gene	DOID:13378	Kawasaki disease		ISO	RGD:733666	D	RGD:9068941	20200609	RGD			PMID:21356372|REF_RGD_ID:9585741
12106761	ELN	elastin	gene	DOID:13641	exfoliation syndrome		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:7777294|REF_RGD_ID:9585736
12106761	ELN	elastin	gene	DOID:13948	bladder neck obstruction	treatment	ISO	RGD:67394	D	RGD:9068941	20200609	RGD			PMID:23313213|REF_RGD_ID:7257549
12106761	ELN	elastin	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736469	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11175284|PMID:16199547|PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection	PMID:11175284|PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:1596	depressive disorder		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:1712	aortic valve stenosis		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:10190538|PMID:19844261|PMID:28492532|PMID:9215671
12106761	ELN	elastin	gene	DOID:1909	melanoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106761	ELN	elastin	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:11979070|REF_RGD_ID:9585752
12106761	ELN	elastin	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:736469	D	RGD:9068941	20200609	RGD		associated with Nevus, Pigmented;	PMID:19032378|REF_RGD_ID:9585768
12106761	ELN	elastin	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB | ClinVar Annotator: match by term: Williams syndrome | ClinVar Annotator: match by term: Williams-Beuren syndrome	PMID:10942104|PMID:17576681|PMID:19029017|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31829210|PMID:9536098
12106761	ELN	elastin	gene	DOID:1929	supravalvular aortic stenosis		ISO	RGD:736469	D	RGD:7240710	20180130	OMIM			
12106761	ELN	elastin	gene	DOID:1929	supravalvular aortic stenosis		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ELN-related condition | ClinVar Annotator: match by term: SUPRAVALVULAR AORTIC STENOSIS | ClinVar Annotator: match by term: SVAS | ClinVar Annotator: match by term: Supravalvar aortic stenosis | ClinVar Annotator: match by term: Supravalvular aortic stenosis	PMID:10190324|PMID:10190538|PMID:10627943|PMID:10942104|PMID:11175284|PMID:16199547|PMID:16374472|PMID:16894468|PMID:17037986|PMID:17576681|PMID:19029017|PMID:19844261|PMID:22740173|PMID:23442826|PMID:24033266|PMID:25205790|PMID:25741868|PMID:26014430|PMID:27866049|PMID:28277377|PMID:28391405|PMID:28492532|PMID:28659821|PMID:29332214|PMID:29501665|PMID:29907982|PMID:30228022|PMID:31577255|PMID:31829210|PMID:34150014|PMID:34422331|PMID:35861108|PMID:36518217|PMID:38591341|PMID:39402625|PMID:40307100|PMID:7557968|PMID:7611295|PMID:7726172|PMID:8968740|PMID:9215670|PMID:9536098
12106761	ELN	elastin	gene	DOID:2030	anxiety disorder		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106761	ELN	elastin	gene	DOID:255	hemangioma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:10190538|PMID:19844261|PMID:9215671
12106761	ELN	elastin	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:1936214|PMID:7524808|REF_RGD_ID:9585748|REF_RGD_ID:9585763
12106761	ELN	elastin	gene	DOID:2841	asthma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
12106761	ELN	elastin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:16081882|REF_RGD_ID:1580326
12106761	ELN	elastin	gene	DOID:3144	cutis laxa		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12189163
12106761	ELN	elastin	gene	DOID:3144	cutis laxa		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:15381555|PMID:2745999|REF_RGD_ID:1580330|REF_RGD_ID:9585732
12106761	ELN	elastin	gene	DOID:3144	cutis laxa		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		DNA:deletion mutations:cds:	PMID:23442826|REF_RGD_ID:9585761
12106761	ELN	elastin	gene	DOID:3144	cutis laxa		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		DNA:deletions:exon:2012del,2039del(human)	PMID:9873040|REF_RGD_ID:9585738
12106761	ELN	elastin	gene	DOID:3144	cutis laxa		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		associated with lung diseases; DNA:duplication: :	PMID:15955094|REF_RGD_ID:9585740
12106761	ELN	elastin	gene	DOID:3159	photosensitivity disease		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin:	PMID:18753059|REF_RGD_ID:9585765
12106761	ELN	elastin	gene	DOID:3275	thymoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106761	ELN	elastin	gene	DOID:3627	aortic aneurysm		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		associated with  Cutis Laxa;	PMID:16085695|REF_RGD_ID:9585744
12106761	ELN	elastin	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10761639|PMID:26817844
12106761	ELN	elastin	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:67394	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung:	PMID:12194112|REF_RGD_ID:9585688
12106761	ELN	elastin	gene	DOID:418	systemic scleroderma		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:22563211|REF_RGD_ID:9585742
12106761	ELN	elastin	gene	DOID:4362	cervical cancer		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106761	ELN	elastin	gene	DOID:4448	macular degeneration		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:16123400|REF_RGD_ID:9585737
12106761	ELN	elastin	gene	DOID:5041	esophageal cancer		ISO	RGD:736469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106761	ELN	elastin	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:67394	D	RGD:9068941	20200609	RGD		protein:increased expression:liver:	PMID:22223197|REF_RGD_ID:9585666
12106761	ELN	elastin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106761	ELN	elastin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12106761	ELN	elastin	gene	DOID:62	aortic valve disease		ISO	RGD:733666	D	RGD:9068941	20220825	MouseDO			
12106761	ELN	elastin	gene	DOID:630	genetic disease		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10190538|PMID:11175284|PMID:19844261|PMID:25741868|PMID:28492532|PMID:34422331|PMID:9215671
12106761	ELN	elastin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:12643515|REF_RGD_ID:9585739
12106761	ELN	elastin	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:15944607|REF_RGD_ID:1580157
12106761	ELN	elastin	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:67394	D	RGD:9068941	20200609	RGD			PMID:18585885|REF_RGD_ID:9585668
12106761	ELN	elastin	gene	DOID:799	varicose veins		ISO	RGD:736469	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:8505	dermatitis herpetiformis		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:8256113|REF_RGD_ID:9585750
12106761	ELN	elastin	gene	DOID:8893	psoriasis	treatment	ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:6893335|REF_RGD_ID:9585764
12106761	ELN	elastin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:11707314|REF_RGD_ID:9585734
12106761	ELN	elastin	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	PMID:28492532
12106761	ELN	elastin	gene	DOID:9000727	Syncope		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:28492532
12106761	ELN	elastin	gene	DOID:9001330	Urinary Incontinence, Stress		ISO	RGD:67394	D	RGD:9068941	20200609	RGD			PMID:19878076|REF_RGD_ID:7207866
12106761	ELN	elastin	gene	DOID:9001733	Tinnitus		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:9001831	Lichen Sclerosus et Atrophicus		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:altered expression:vulva:	PMID:11683283|REF_RGD_ID:9585756
12106761	ELN	elastin	gene	DOID:9002377	Supravalvar Aortic Stenosis, Eisenberg Type		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supravalvar aortic stenosis, Eisenberg type	PMID:10942104|PMID:11175284|PMID:16199547|PMID:16894468|PMID:17576681|PMID:19029017|PMID:22740173|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29332214|PMID:31829210|PMID:34422331|PMID:39402625|PMID:9215670|PMID:9536098
12106761	ELN	elastin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:28492532
12106761	ELN	elastin	gene	DOID:9003386	Sunburn		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin:	PMID:8040608|REF_RGD_ID:9585745
12106761	ELN	elastin	gene	DOID:9003507	Premature Birth		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:9003539	Hyperacusis		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:9004372	Pulmonary Atelectasis		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atelectasis	PMID:28492532
12106761	ELN	elastin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10190538|PMID:19844261|PMID:25741868|PMID:28492532|PMID:9215671
12106761	ELN	elastin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:67394	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bladder:	PMID:18279932|REF_RGD_ID:9585725
12106761	ELN	elastin	gene	DOID:9006392	Anetoderma		ISO	RGD:736469	D	RGD:9068941	20200609	RGD		protein:decreased expression:skin:	PMID:6736354|REF_RGD_ID:9585766
12106761	ELN	elastin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11175284|PMID:16199547|PMID:28492532
12106761	ELN	elastin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12106761	ELN	elastin	gene	DOID:9007573	Flatfoot		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10190538|PMID:19844261|PMID:9215671
12106761	ELN	elastin	gene	DOID:9007661	Dwarfism		ISO	RGD:736469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12106761	ELN	elastin	gene	DOID:9007736	Vertigo		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:9008023	Memory Disorders		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:10942104|PMID:25741868|PMID:28492532|PMID:31829210
12106761	ELN	elastin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10190538|PMID:19844261|PMID:28492532|PMID:9215671
12106761	ELN	elastin	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	no_association	ISO	RGD:736469	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2301995(human)	PMID:21391811|REF_RGD_ID:9585730
12106761	ELN	elastin	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	susceptibility	ISO	RGD:736469	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :rs2301995(human)	PMID:18326737|REF_RGD_ID:9585729
12106761	ELN	elastin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29907982|PMID:9536098
12106761	ELN	elastin	gene	DOID:9008965	Bronchomalacia		ISO	RGD:736469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:28492532
12106761	ELN	elastin	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10359170
12106761	ELN	elastin	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:12643515|REF_RGD_ID:9585739
12106761	ELN	elastin	gene	DOID:9675	pulmonary emphysema		ISO	RGD:736469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
12106761	ELN	elastin	gene	DOID:9810	polyarteritis nodosa		ISO	RGD:736469	D	RGD:9068941	20200609	RGD			PMID:12643515|REF_RGD_ID:9585739
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1552183	D	RGD:9068941	20230330	MouseDO			
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:0110243	cataract 46 juvenile-onset		ISO	RGD:1313312	D	RGD:7240710	20190315	OMIM			
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:0110243	cataract 46 juvenile-onset		ISO	RGD:1313312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract 46 juvenile-onset	PMID:26788539
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:3275	thymoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:25741868
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:25741868
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9009262	Marbach-Rustad progeroid syndrome		ISO	RGD:1313312	D	RGD:7240710	20241120	OMIM			
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:9009262	Marbach-Rustad progeroid syndrome		ISO	RGD:1313312	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEMD2-related condition | ClinVar Annotator: match by term: Marbach-Rustad progeroid syndrome	PMID:25741868|PMID:28492532
12106807	LEMD2	LEM domain nuclear envelope protein 2	gene	DOID:930	orbital disease		ISO	RGD:1313312	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:736612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:10534	stomach cancer		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:12849	autistic disorder		ISO	RGD:736612	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:6039	uveal melanoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:767	muscular atrophy		ISO	RGD:3157	D	RGD:9068941	20200609	RGD		protein:increased expression:gastrocnemius	PMID:19125695|REF_RGD_ID:7242174
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:9000058	Keloid		ISO	RGD:736612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711176
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106823	NEDD4	NEDD4 E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:13580	cholestasis		ISO	RGD:2858	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, nucleus (rat)	PMID:16628634|REF_RGD_ID:9686088
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:736819	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, wall of arteriole (human)	PMID:20522807|REF_RGD_ID:9686087
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16966095
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:1686	glaucoma		ISO	RGD:736819	D	RGD:9068941	20221027	RGD		mRNA:increased expression:optic nerve head (human)	PMID:28990066|REF_RGD_ID:155630605
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2858	D	RGD:9068941	20200609	RGD			PMID:20522807|REF_RGD_ID:9686087
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2858	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (rat)	PMID:11746449|REF_RGD_ID:9686138
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736819	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: therapeutic	PMID:24910342
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21283680
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106872	ID1	inhibitor of DNA binding 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12106899	LIPN	lipase family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:7240710	20180130	OMIM			
12106899	LIPN	lipase family member N	gene	DOID:0060717	autosomal recessive congenital ichthyosis 8		ISO	RGD:1349924	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 8 | ClinVar Annotator: match by term: LIPN-related condition	PMID:25741868|PMID:28492532
12106899	LIPN	lipase family member N	gene	DOID:1324	lung cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106899	LIPN	lipase family member N	gene	DOID:3275	thymoma		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12106899	LIPN	lipase family member N	gene	DOID:4362	cervical cancer		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12106899	LIPN	lipase family member N	gene	DOID:5041	esophageal cancer		ISO	RGD:1349924	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106899	LIPN	lipase family member N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12106899	LIPN	lipase family member N	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349924	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12106913	WDCP	WD repeat and coiled coil containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12106936	GDF9	growth differentiation factor 9	gene	DOID:0080871	primary ovarian insufficiency 14		ISO	RGD:736579	D	RGD:7240710	20190315	OMIM			
12106936	GDF9	growth differentiation factor 9	gene	DOID:0080871	primary ovarian insufficiency 14		ISO	RGD:736579	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GDF9-related condition | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 14 | ClinVar Annotator: match by term: Premature ovarian failure 14	PMID:25741868|PMID:34008892
12106936	GDF9	growth differentiation factor 9	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:736579	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12106936	GDF9	growth differentiation factor 9	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736579	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22825968
12106936	GDF9	growth differentiation factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:736579	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106936	GDF9	growth differentiation factor 9	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:736579	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12106936	GDF9	growth differentiation factor 9	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736579	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
12106936	GDF9	growth differentiation factor 9	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:736579	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12106936	GDF9	growth differentiation factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106962	STARD5	StAR related lipid transfer domain containing 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12106962	STARD5	StAR related lipid transfer domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12106962	STARD5	StAR related lipid transfer domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317618	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12106962	STARD5	StAR related lipid transfer domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12106962	STARD5	StAR related lipid transfer domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12106976	PLAC8B	placenta associated 8 B	gene	DOID:10603	glucose intolerance		ISO	RGD:1308102	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:26296322|REF_RGD_ID:10755343
12106976	PLAC8B	placenta associated 8 B	gene	DOID:1324	lung cancer		ISO	RGD:1317680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12106976	PLAC8B	placenta associated 8 B	gene	DOID:13272	Klebsiella pneumonia	severity	ISO	RGD:1317681	D	RGD:9068941	20210115	RGD			PMID:17404296|REF_RGD_ID:40924563
12106976	PLAC8B	placenta associated 8 B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12106976	PLAC8B	placenta associated 8 B	gene	DOID:9000371	influenza A		ISO	RGD:1317681	D	RGD:9068941	20210122	RGD			PMID:32639988|REF_RGD_ID:40925929
12106976	PLAC8B	placenta associated 8 B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12106976	PLAC8B	placenta associated 8 B	gene	DOID:9002953	Escherichia Coli Infections	severity	ISO	RGD:1317681	D	RGD:9068941	20210115	RGD			PMID:17404296|REF_RGD_ID:40924563
12106976	PLAC8B	placenta associated 8 B	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1308102	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:26296322|REF_RGD_ID:10755343
12106976	PLAC8B	placenta associated 8 B	gene	DOID:9008090	Chlamydiaceae Infections	exacerbates	ISO	RGD:1317681	D	RGD:9068941	20210205	RGD			PMID:22238459|REF_RGD_ID:40925930
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868|PMID:35077597
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:0081020	congenital fibrosis of the extraocular muscles 5		ISO	RGD:1603375	D	RGD:7240710	20180130	OMIM			
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:0081020	congenital fibrosis of the extraocular muscles 5		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COL25A1-related condition | ClinVar Annotator: match by term: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 5	PMID:25500261|PMID:25741868|PMID:28492532|PMID:31875546|PMID:35077597|PMID:40158061
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1603375	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1603375	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107018	COL25A1	collagen type XXV alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107090	MARS2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:7240710	20180130	OMIM			
12107090	MARS2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050942	spastic ataxia 3		ISO	RGD:1349073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia, spastic, 3, autosomal recessive | ClinVar Annotator: match by term: SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic ataxia 3	PMID:25741868|PMID:28492532
12107090	MARS2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:7240710	20180130	OMIM			
12107090	MARS2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111468	combined oxidative phosphorylation deficiency 25		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 25 | ClinVar Annotator: match by term: MARS2-related condition	PMID:25741868|PMID:28492532
12107090	MARS2	methionyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:0080600	COVID-19		ISO	RGD:70825	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:0112231	lissencephaly 7 with cerebellar hypoplasia		ISO	RGD:70825	D	RGD:7240710	20180130	OMIM			
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:0112231	lissencephaly 7 with cerebellar hypoplasia		ISO	RGD:70825	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: CDK5-related condition | ClinVar Annotator: match by term: Lissencephaly 7 with cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:40186457
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70825	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:g.149800G>C (human)	PMID:15917097|REF_RGD_ID:13782365
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:28269780|REF_RGD_ID:13508590
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:28085018|REF_RGD_ID:13792587
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:21161138|REF_RGD_ID:13782378
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:21682945|REF_RGD_ID:13782377
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:28254431|REF_RGD_ID:13506925
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:2316	brain ischemia		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:14502288|REF_RGD_ID:734740
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:11343650|REF_RGD_ID:734741
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:24920629|REF_RGD_ID:13782375
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:670	amphetamine abuse		ISO	RGD:70826	D	RGD:9068941	20231118	RGD		protein:increased expression:ventral tegmental area, nucleus accumbens (mouse)	PMID:28782589|REF_RGD_ID:401900303
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:680	tauopathy		ISO	RGD:70825	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26945731
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:27118553|REF_RGD_ID:13792766
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:25301568|REF_RGD_ID:13782374
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9004974	Painful Neuropathy	treatment	ISO	RGD:70514	D	RGD:9068941	20260423	RGD			PMID:24659417|REF_RGD_ID:401940123
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9005372	Inflammation		ISO	RGD:70514	D	RGD:9068941	20200609	RGD			PMID:16407116|REF_RGD_ID:13782383
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:70826	D	RGD:9068941	20200609	RGD			PMID:11268215|REF_RGD_ID:734739
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9009105	HIV Encephalitis		ISO	RGD:70514	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:hippocampus	PMID:28107387|REF_RGD_ID:13506927
12107141	CDK5	cyclin dependent kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107159	SYPL1	synaptophysin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107159	SYPL1	synaptophysin like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346991	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12107159	SYPL1	synaptophysin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107159	SYPL1	synaptophysin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107159	SYPL1	synaptophysin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107168	RNF13	ring finger protein 13	gene	DOID:0070297	primary microcephaly		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12107168	RNF13	ring finger protein 13	gene	DOID:0112209	developmental and epileptic encephalopathy 73		ISO	RGD:1351392	D	RGD:7240710	20190417	OMIM			
12107168	RNF13	ring finger protein 13	gene	DOID:0112209	developmental and epileptic encephalopathy 73		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 73 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 73 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 73 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 73 | ClinVar Annotator: match by term: RNF13-related condition	PMID:25741868|PMID:28492532|PMID:30595371|PMID:37668308
12107168	RNF13	ring finger protein 13	gene	DOID:10534	stomach cancer		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107168	RNF13	ring finger protein 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107168	RNF13	ring finger protein 13	gene	DOID:11836	clubfoot		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12107168	RNF13	ring finger protein 13	gene	DOID:1826	epilepsy		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12107168	RNF13	ring finger protein 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12107168	RNF13	ring finger protein 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107168	RNF13	ring finger protein 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107168	RNF13	ring finger protein 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107168	RNF13	ring finger protein 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:28492532|PMID:9536098
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107192	RAB40B	RAB40B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107193	SPC24	SPC24 component of NDC80 kinetochore complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107193	SPC24	SPC24 component of NDC80 kinetochore complex	gene	DOID:10534	stomach cancer		ISO	RGD:1604521	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107193	SPC24	SPC24 component of NDC80 kinetochore complex	gene	DOID:3275	thymoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107193	SPC24	SPC24 component of NDC80 kinetochore complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3697	D	RGD:9068941	20250510	RGD		protein:decreased expression:shell of nucleus accumbens (rat)	PMID:33075417|REF_RGD_ID:598973840
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3697	D	RGD:9068941	20250522	RGD		associated with nicotine dependence; protein:decreased expression:nucleus accumbens (rat)	PMID:29753887|REF_RGD_ID:616363027
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250424	RGD		associated with nicotine dependence	PMID:27060486|REF_RGD_ID:598108052
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250529	RGD			PMID:23518814|PMID:23893122|PMID:24535561|PMID:25400560|PMID:25813713|PMID:26002627|PMID:26168897|PMID:26790351|PMID:27199635|PMID:27993695|PMID:36153003|REF_RGD_ID:598136399|REF_RGD_ID:598136402|REF_RGD_ID:598147066|REF_RGD_ID:598147069|REF_RGD_ID:598147077|REF_RGD_ID:598148181|REF_RGD_ID:598150065|REF_RGD_ID:598150306|REF_RGD_ID:598154609|REF_RGD_ID:598276809|REF_RGD_ID:616363034
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:3697	D	RGD:9068941	20250522	RGD		protein:decreased expression:nucleus accumbens (rat)	PMID:29753887|REF_RGD_ID:616363027
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:736773	D	RGD:9068941	20250501	RGD		mRNA,protein:decreased expression: brain, striatum (mouse)	PMID:33242460|REF_RGD_ID:598154614
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250424	RGD			PMID:27060486|REF_RGD_ID:598108052
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0080442	developmental and epileptic encephalopathy 41		ISO	RGD:732300	D	RGD:7240710	20190315	OMIM			
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:0080442	developmental and epileptic encephalopathy 41		ISO	RGD:732300	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 41 | ClinVar Annotator: match by term: SLC1A2-related condition	PMID:23107647|PMID:24214974|PMID:25741868|PMID:27476654|PMID:28492532|PMID:28777935|PMID:30937933|PMID:31164858|PMID:31618753|PMID:34961934|PMID:36543780
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3697	D	RGD:9068941	20250313	RGD			PMID:38078339|REF_RGD_ID:597830179
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:11206	opioid abuse	treatment	ISO	RGD:3697	D	RGD:9068941	20250426	RGD			PMID:36470419|REF_RGD_ID:598147056
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:12858	Huntington's disease		ISO	RGD:732300	D	RGD:9068941	20200609	RGD			PMID:9100675|REF_RGD_ID:13432194
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:12858	Huntington's disease		ISO	RGD:736773	D	RGD:9068941	20200609	RGD			PMID:17409241|REF_RGD_ID:13432195
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3697	D	RGD:9068941	20250220	RGD			PMID:32664441|REF_RGD_ID:597805903
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:1742	drug psychosis	susceptibility	ISO	RGD:732300	D	RGD:9068941	20250529	RGD		associated with amphetamine abuse; DNA:SNP: (rs4755404) (human)	PMID:36836504|REF_RGD_ID:616363036
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:1826	epilepsy		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19853022
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:3275	thymoma		ISO	RGD:732300	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11723166
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732300	D	RGD:9068941	20200609	RGD		mRNA:processing errors:spinal cord, motor cortex (human)	PMID:9539131|REF_RGD_ID:1302517
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3697	D	RGD:9068941	20230902	RGD			PMID:20423712|REF_RGD_ID:401794585
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:630	genetic disease		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732300	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21471434
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22645130
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:3697	D	RGD:9068941	20250529	RGD			PMID:14750980|REF_RGD_ID:616363139
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19625514
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732300	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9975	cocaine dependence		ISO	RGD:3697	D	RGD:9068941	20250501	RGD			PMID:23985782|REF_RGD_ID:598150314
12107214	SLC1A2	solute carrier family 1 member 2	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:3697	D	RGD:9068941	20250515	RGD			PMID:31100299|REF_RGD_ID:598150313
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1343841	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1343841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24223948
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9002395	Hypothermia	severity	ISO	RGD:620756	D	RGD:9068941	20230720	RGD			PMID:31271215|REF_RGD_ID:329961299
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1343841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9007727	Alcohol-Induced Disorders, Nervous System		ISO	RGD:1343841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24223948
12107235	CIRBP	cold inducible RNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107261	ANO10	anoctamin 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107261	ANO10	anoctamin 10	gene	DOID:0050999	autosomal recessive spinocerebellar ataxia 10		ISO	RGD:1605667	D	RGD:7240710	20180130	OMIM			
12107261	ANO10	anoctamin 10	gene	DOID:0050999	autosomal recessive spinocerebellar ataxia 10		ISO	RGD:1605667	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANO10-related condition | ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 10 | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 10	PMID:16199547|PMID:21092923|PMID:25089919|PMID:25182700|PMID:25425649|PMID:25730773|PMID:25741868|PMID:25976027|PMID:26467025|PMID:27066545|PMID:27091155|PMID:27142713|PMID:27270446|PMID:28492532|PMID:29482223|PMID:30078120|PMID:30515630|PMID:31301133|PMID:31477691|PMID:31589614|PMID:32620747|PMID:33223419|PMID:33374413|PMID:33624863|PMID:34234304|PMID:34906502|PMID:35648332|PMID:36698452|PMID:36959044|PMID:37816627
12107261	ANO10	anoctamin 10	gene	DOID:10534	stomach cancer		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107261	ANO10	anoctamin 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107261	ANO10	anoctamin 10	gene	DOID:1115	sarcoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107261	ANO10	anoctamin 10	gene	DOID:12849	autistic disorder		ISO	RGD:1605667	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12107261	ANO10	anoctamin 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107261	ANO10	anoctamin 10	gene	DOID:3275	thymoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107261	ANO10	anoctamin 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1605667	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107261	ANO10	anoctamin 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107261	ANO10	anoctamin 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025
12107261	ANO10	anoctamin 10	gene	DOID:630	genetic disease		ISO	RGD:1605667	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12107261	ANO10	anoctamin 10	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1605667	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	
12107261	ANO10	anoctamin 10	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1605667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: urinary incontinence	PMID:25741868
12107261	ANO10	anoctamin 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:299	adenocarcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:305	carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:4362	cervical cancer		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12107279	PGAM1	phosphoglycerate mutase 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12107287	LYSMD2	LysM domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605838	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12107287	LYSMD2	LysM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107300	EPHA4	EPH receptor A4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107300	EPHA4	EPH receptor A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345605	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:19542617|REF_RGD_ID:6218956
12107300	EPHA4	EPH receptor A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1558389	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:19542617|REF_RGD_ID:6218956
12107300	EPHA4	EPH receptor A4	gene	DOID:1324	lung cancer		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107300	EPHA4	EPH receptor A4	gene	DOID:1827	generalized epilepsy		ISO	RGD:1345605	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12107300	EPHA4	EPH receptor A4	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1560587	D	RGD:9068941	20200609	RGD			PMID:10336070|REF_RGD_ID:5688752
12107300	EPHA4	EPH receptor A4	gene	DOID:5041	esophageal cancer		ISO	RGD:1345605	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107300	EPHA4	EPH receptor A4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107300	EPHA4	EPH receptor A4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1558389	D	RGD:9068941	20200609	RGD			PMID:21931787|REF_RGD_ID:5688764
12107300	EPHA4	EPH receptor A4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1560587	D	RGD:9068941	20200609	RGD			PMID:17418490|PMID:17970742|REF_RGD_ID:5688750|REF_RGD_ID:5688782
12107300	EPHA4	EPH receptor A4	gene	DOID:9000998	Brain Injuries		ISO	RGD:1345605	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:astrocyte	PMID:22318127|REF_RGD_ID:5688763
12107300	EPHA4	EPH receptor A4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1560587	D	RGD:9068941	20200609	RGD		associated with spinal cord injuries;	PMID:16959251|REF_RGD_ID:5688783
12107300	EPHA4	EPH receptor A4	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1560587	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:21736568|REF_RGD_ID:5688765
12107300	EPHA4	EPH receptor A4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12107300	EPHA4	EPH receptor A4	gene	DOID:9007402	Gliosis		ISO	RGD:1558389	D	RGD:9068941	20200609	RGD		associated with spinal cord injuries;	PMID:15537875|REF_RGD_ID:5688771
12107300	EPHA4	EPH receptor A4	gene	DOID:9007402	Gliosis	no_association	ISO	RGD:1558389	D	RGD:9068941	20200609	RGD		associated with spinal cord injuries;	PMID:20170651|REF_RGD_ID:5688772
12107300	EPHA4	EPH receptor A4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0060058	lymphoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0070455	hereditary spastic paraplegia 79A		ISO	RGD:733510	D	RGD:7240710	20260805	OMIM			
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0070455	hereditary spastic paraplegia 79A		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 79A, AUTOSOMAL DOMINANT, WITH ATAXIA | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant | ClinVar Annotator: match by term: Spastic paraplegia 79A, autosomal dominant, with ataxia	PMID:25741868|PMID:28492532|PMID:35986737|PMID:39030458|PMID:41503587
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0112344	hereditary spastic paraplegia 79B		ISO	RGD:733510	D	RGD:7240710	20260805	OMIM			
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:0112344	hereditary spastic paraplegia 79B		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 79B, AUTOSOMAL RECESSIVE	PMID:10563640|PMID:17287139|PMID:19683447|PMID:19864305|PMID:21251915|PMID:22839974|PMID:23359680|PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:10534	stomach cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733510	D	RGD:9068941	20200609	RGD			PMID:14722078|REF_RGD_ID:1580538
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:1324	lung cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:1891	optic nerve disease		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:736277	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:11555633|REF_RGD_ID:1302546
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:2394	ovarian cancer		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:3275	thymoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:4866	salivary gland adenoid cystic carcinoma		ISO	RGD:733510	D	RGD:9068941	20260618	RGD		DNA:hypermethylation:promoter	PMID:32120844|REF_RGD_ID:736668111
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:5679	retinal disease		ISO	RGD:3928	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:18836575|REF_RGD_ID:5490154
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16797537
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:6039	uveal melanoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:630	genetic disease		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16965602
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15930319
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736277	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:11555633|REF_RGD_ID:1302546
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9000495	Tremor		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:25741868
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9002563	Gait Ataxia		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9004866	Ataxia		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:733510	D	RGD:7240710	20260805	OMIM			
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:733510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to	PMID:10563640|PMID:17287139|PMID:19683447|PMID:19864305|PMID:21251915|PMID:22839974|PMID:25741868|PMID:28492532
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107329	UCHL1	ubiquitin C-terminal hydrolase L1	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:733510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18958481
12107342	HMGXB4	HMG-box containing 4	gene	DOID:1909	melanoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107342	HMGXB4	HMG-box containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107342	HMGXB4	HMG-box containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107342	HMGXB4	HMG-box containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107342	HMGXB4	HMG-box containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1313710	D	RGD:7240710	20180130	OMIM			
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:0060357	chylomicron retention disease		ISO	RGD:1313710	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHYLOMICRON RETENTION DISEASE | ClinVar Annotator: match by term: Chylomicron retention disease | ClinVar Annotator: match by term: Hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells | ClinVar Annotator: match by term: SAR1B-related condition	PMID:12692552|PMID:17945526|PMID:19285442|PMID:24033266|PMID:25741868|PMID:28492532
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:1324	lung cancer		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:6039	uveal melanoma		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:630	genetic disease		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1313710	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:12692552|PMID:25741868
12107375	SAR1B	secretion associated Ras related GTPase 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107386	DCAF10	DDB1 and CUL4 associated factor 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107386	DCAF10	DDB1 and CUL4 associated factor 10	gene	DOID:3070	high grade glioma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12107386	DCAF10	DDB1 and CUL4 associated factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1115	sarcoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:1324	lung cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606229	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107397	HECTD3	HECT domain E3 ubiquitin protein ligase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1606229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12107427	LOC483211	filaggrin-2	gene	DOID:0070525	peeling skin syndrome 6		ISO	RGD:1603471	D	RGD:7240710	20200122	OMIM			
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1323395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:1324	lung cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1323395	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208345
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107441	DTX4	deltex E3 ubiquitin ligase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323395	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107454	GLYAT	glycine-N-acyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12107454	GLYAT	glycine-N-acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107474	DIRAS1	DIRAS family GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107474	DIRAS1	DIRAS family GTPase 1	gene	DOID:308	early myoclonic encephalopathy		IAGP		D	RGD:12801476	20250113	OMIA		Epilepsy, generalized myoclonic, with photosensitivity	PMID:28223533|PMID:29194766|PMID:38003185
12107481	SCARA5	scavenger receptor class A member 5	gene	DOID:1324	lung cancer		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107481	SCARA5	scavenger receptor class A member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107496	VDR	vitamin D receptor	gene	DOID:0050848	obstructive sleep apnea	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260319	RGD		DNA:SNPs:intron, exon:rs1544410, rs2228570	PMID:30782293|REF_RGD_ID:640478525
12107496	VDR	vitamin D receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107496	VDR	vitamin D receptor	gene	DOID:0060041	autism spectrum disorder	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs731236,rs1544410(human)	PMID:26073892|REF_RGD_ID:11053054
12107496	VDR	vitamin D receptor	gene	DOID:0060041	autism spectrum disorder	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotypes: :rs731236,,rs1544410,rs2228570(human)	PMID:27155524|REF_RGD_ID:13210779
12107496	VDR	vitamin D receptor	gene	DOID:0060643	primary sclerosing cholangitis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:28146070|REF_RGD_ID:14401745
12107496	VDR	vitamin D receptor	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868
12107496	VDR	vitamin D receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:11484	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:hepatocyte:	PMID:27245430|REF_RGD_ID:14401753
12107496	VDR	vitamin D receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:hepatocyte:	PMID:27245430|REF_RGD_ID:14401753
12107496	VDR	vitamin D receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:27245430|REF_RGD_ID:14401753
12107496	VDR	vitamin D receptor	gene	DOID:0080410	familial adenomatous polyposis 2		ISO	RGD:619561	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 2	PMID:15308610|PMID:17970811|PMID:25741868|PMID:28492532|PMID:31557081|PMID:36705686
12107496	VDR	vitamin D receptor	gene	DOID:0080750	erythema nodosum	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:polymorphism: : rs7975232(human)	PMID:24880677|REF_RGD_ID:13217417
12107496	VDR	vitamin D receptor	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:619561	D	RGD:9068941	20260326	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:27026514|REF_RGD_ID:632518024
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A		IAGP		D	RGD:12801476	20210811	OMIA		Vitamin D-deficiency rickets, type II	PMID:19909429|PMID:34323302
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A		ISO	RGD:619561	D	RGD:7240710	20180130	OMIM			
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A		ISO	RGD:619561	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HVDRR | ClinVar Annotator: match by term: VDR-related condition | ClinVar Annotator: match by term: VITAMIN D-DEPENDENT RICKETS, TYPE 2A | ClinVar Annotator: match by term: VITAMIN D-RESISTANT RICKETS WITH END-ORGAN UNRESPONSIVENESS TO 1,25-DIHYDROXYCHOLECALCIFEROL | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 2A	PMID:10204116|PMID:10707958|PMID:19049339|PMID:21168462|PMID:2177843|PMID:22145479|PMID:24246681|PMID:24859502|PMID:2557627|PMID:25741868|PMID:2849209|PMID:28492532|PMID:28620554|PMID:29949513|PMID:30967742|PMID:35738466|PMID:37080976|PMID:40794449|PMID:8392085|PMID:8961271|PMID:9360557
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:24693968|REF_RGD_ID:13432060
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:24693968|REF_RGD_ID:13432060
12107496	VDR	vitamin D receptor	gene	DOID:0080884	vitamin D-dependent rickets type 2A	treatment	ISO	XCO:0000545	D	RGD:9068941	20210402	RGD			PMID:32231239|REF_RGD_ID:32716373
12107496	VDR	vitamin D receptor	gene	DOID:0081013	severe COVID-19	no_association	ISO	RGD:619561	D	RGD:9068941	20260326	RGD		DNA:SNPs: :rs7975232, rs731236	PMID:35861117|REF_RGD_ID:640480044
12107496	VDR	vitamin D receptor	gene	DOID:0081013	severe COVID-19	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260326	RGD		DNA:SNP: :rs2228570	PMID:35861117|REF_RGD_ID:640480044
12107496	VDR	vitamin D receptor	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		protein:increased expression:muscle:	PMID:27558075|REF_RGD_ID:13210781
12107496	VDR	vitamin D receptor	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11574143 (human)	PMID:19255064|REF_RGD_ID:4889833
12107496	VDR	vitamin D receptor	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:10534	stomach cancer		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107496	VDR	vitamin D receptor	gene	DOID:1059	intellectual disability		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:619561	D	RGD:9068941	20231130	RGD		associated with Premature Birth; mRNA:increased expression:placenta (human)	PMID:32682061|REF_RGD_ID:401901078
12107496	VDR	vitamin D receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:619561	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12107496	VDR	vitamin D receptor	gene	DOID:10591	pre-eclampsia		ISO	RGD:619561	D	RGD:9068941	20231130	RGD		protein:decreased expression:placenta (human)	PMID:22871339|REF_RGD_ID:401901075
12107496	VDR	vitamin D receptor	gene	DOID:10609	rickets		ISO	RGD:619561	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:22145479|PMID:25741868|PMID:28492532|PMID:28620554|PMID:35738466|PMID:8392085
12107496	VDR	vitamin D receptor	gene	DOID:10763	hypertension		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11335187
12107496	VDR	vitamin D receptor	gene	DOID:11202	primary hyperparathyroidism	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human)	PMID:9070272|REF_RGD_ID:13432057
12107496	VDR	vitamin D receptor	gene	DOID:11476	osteoporosis		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:11476	osteoporosis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis	PMID:16713399|REF_RGD_ID:4889871
12107496	VDR	vitamin D receptor	gene	DOID:11612	polycystic ovary syndrome	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism,haplotype: :rs731236(human)	PMID:24078159|REF_RGD_ID:13210783
12107496	VDR	vitamin D receptor	gene	DOID:11650	bronchopulmonary dysplasia	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with Premature Birth;DNA:SNPs: :rs2228570,rs731236(human)	PMID:24796371|REF_RGD_ID:13432055
12107496	VDR	vitamin D receptor	gene	DOID:11714	gestational diabetes		ISO	RGD:619561	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12107496	VDR	vitamin D receptor	gene	DOID:11830	myopia	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:c.2T>C (human)	PMID:21897619|REF_RGD_ID:8157620
12107496	VDR	vitamin D receptor	gene	DOID:12185	otosclerosis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, silent mutation:intron, cds: (rs731236, rs1544410, rs7975232) (human)	PMID:23639864|REF_RGD_ID:8157627
12107496	VDR	vitamin D receptor	gene	DOID:12185	otosclerosis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: (rs2228570) (human)	PMID:23639864|REF_RGD_ID:8157627
12107496	VDR	vitamin D receptor	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :	PMID:19376604|REF_RGD_ID:14401750
12107496	VDR	vitamin D receptor	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:15683428|REF_RGD_ID:14402024
12107496	VDR	vitamin D receptor	gene	DOID:12306	vitiligo		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :multiple	PMID:22738935|REF_RGD_ID:8158061
12107496	VDR	vitamin D receptor	gene	DOID:12306	vitiligo		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)	PMID:22762534|REF_RGD_ID:8158066
12107496	VDR	vitamin D receptor	gene	DOID:12306	vitiligo	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2228570 (human)	PMID:22762534|REF_RGD_ID:8158066
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2228570 (human)	PMID:17506475|REF_RGD_ID:8157632
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1544410, rs10735810 (human)	PMID:16279845|REF_RGD_ID:8158053
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1544410, rs7975232 (human)	PMID:11134121|REF_RGD_ID:8157628
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype	PMID:16100768|REF_RGD_ID:8157624
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228570 (human)	PMID:11134121|REF_RGD_ID:8157628
12107496	VDR	vitamin D receptor	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs731236, rs7975232 (human)	PMID:16279845|REF_RGD_ID:8158053
12107496	VDR	vitamin D receptor	gene	DOID:12466	secondary hyperparathyroidism	treatment	ISO	RGD:3959	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:8807569|REF_RGD_ID:8158085
12107496	VDR	vitamin D receptor	gene	DOID:12849	autistic disorder		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:1324	lung cancer		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107496	VDR	vitamin D receptor	gene	DOID:13241	Behcet's disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2228570 (human)	PMID:21820934|REF_RGD_ID:8158077
12107496	VDR	vitamin D receptor	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1544410 (human)	PMID:21820934|REF_RGD_ID:8158077
12107496	VDR	vitamin D receptor	gene	DOID:13976	peptic esophagitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)	PMID:25910066|REF_RGD_ID:11055189
12107496	VDR	vitamin D receptor	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :rs4334089, rs2853559(human)	PMID:21309754|REF_RGD_ID:13217419
12107496	VDR	vitamin D receptor	gene	DOID:14499	Fabry disease	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :	PMID:18278558|REF_RGD_ID:13432071
12107496	VDR	vitamin D receptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10389917
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP, repeat: :rs1544410 (human)	PMID:15328186|REF_RGD_ID:8158058
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)	PMID:23554871|REF_RGD_ID:8157626
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:20431345|REF_RGD_ID:8157634
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotype: :multiple	PMID:18419802|REF_RGD_ID:8157631
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:repeat	PMID:11461072|REF_RGD_ID:8158054
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:19331145|REF_RGD_ID:8158065
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228570 (human)	PMID:23554871|REF_RGD_ID:8157626
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1544410 (human)	PMID:19124512|REF_RGD_ID:8158060
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228570 (human)	PMID:11461072|REF_RGD_ID:8158054
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1989969, rs2228570, rs11568820 (human)	PMID:23300018|REF_RGD_ID:8158069
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs731236, rs1544410 (human)	PMID:14749534|REF_RGD_ID:8157636
12107496	VDR	vitamin D receptor	gene	DOID:1612	breast cancer	onset	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:repeat, SNP, haplotype:rs7975232 (human)	PMID:19588543|REF_RGD_ID:8158055
12107496	VDR	vitamin D receptor	gene	DOID:1614	male breast cancer	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs731236, rs7975232), rs10735810 (human)	PMID:22331715|REF_RGD_ID:8157630
12107496	VDR	vitamin D receptor	gene	DOID:1712	aortic valve stenosis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:11359741|REF_RGD_ID:1580365
12107496	VDR	vitamin D receptor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1544410 (human)	PMID:16950800|REF_RGD_ID:8158080
12107496	VDR	vitamin D receptor	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs731236, rs7975232 (human)	PMID:22213323|REF_RGD_ID:8158063
12107496	VDR	vitamin D receptor	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons: (rs731236, rs2228570) (human)	PMID:10690530|REF_RGD_ID:8158068
12107496	VDR	vitamin D receptor	gene	DOID:1909	melanoma	severity	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs4516035 (human)	PMID:19105801|REF_RGD_ID:8158067
12107496	VDR	vitamin D receptor	gene	DOID:1936	atherosclerosis		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:25801026|REF_RGD_ID:14402022
12107496	VDR	vitamin D receptor	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:19693091|REF_RGD_ID:14402030
12107496	VDR	vitamin D receptor	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, hapoltype: :	PMID:16733893|REF_RGD_ID:14401748
12107496	VDR	vitamin D receptor	gene	DOID:2048	autoimmune hepatitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:15683428|REF_RGD_ID:14402024
12107496	VDR	vitamin D receptor	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:11564167|PMID:25741868
12107496	VDR	vitamin D receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25853421
12107496	VDR	vitamin D receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :rs731236,rs1544410,rs7975232(human)	PMID:26540116|REF_RGD_ID:11353119
12107496	VDR	vitamin D receptor	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:27049563|REF_RGD_ID:11530654
12107496	VDR	vitamin D receptor	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :rs731236,rs7975232(human)	PMID:25685788|REF_RGD_ID:13210790
12107496	VDR	vitamin D receptor	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:silent mutation, haplotype:cds: (rs731236) (human)	PMID:21664963|REF_RGD_ID:5147559
12107496	VDR	vitamin D receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs731236, rs7975232 (human)	PMID:22213323|REF_RGD_ID:8158063
12107496	VDR	vitamin D receptor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:15077124|REF_RGD_ID:8158076
12107496	VDR	vitamin D receptor	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16080513
12107496	VDR	vitamin D receptor	gene	DOID:2755	Mycobacterium avium complex disease		ISO	RGD:619561	D	RGD:9068941	20260328	RGD		mRNA:decreased expression:blood	PMID:27931333|REF_RGD_ID:640480048
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:21103062|REF_RGD_ID:4889866
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7975232 (human)	PMID:19622139|REF_RGD_ID:4889868
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:15282200|REF_RGD_ID:4889854
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:20124605|REF_RGD_ID:4889867
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	no_association	ISO	RGD:619561	D	RGD:9068941	20260307	RGD		DNA:SNPs: :multiple	PMID:37407930|REF_RGD_ID:640469346
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	no_association	ISO	RGD:619561	D	RGD:9068941	20260314	RGD		DNA:SNP:exon:rs2228570	PMID:21810276|REF_RGD_ID:640469349
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	severity	ISO	RGD:619561	D	RGD:9068941	20260326	RGD		DNA:SNP:cds:rs2228570	PMID:24007655|REF_RGD_ID:640478535
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260205	RGD		DNA:SNPs, haplotype: :multiple	PMID:36839181|REF_RGD_ID:632518019
12107496	VDR	vitamin D receptor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260228	RGD		DNA:SNP: :rs2228570	PMID:31541492|REF_RGD_ID:632527185
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:15295697|REF_RGD_ID:4889853
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, 3' UTR (human)	PMID:18231846|REF_RGD_ID:4889845
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:619561	D	RGD:9068941	20260115	RGD		DNA:SNP: :rs1544410	PMID:38398882|REF_RGD_ID:630350400
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:619561	D	RGD:9068941	20260117	RGD		DNA:SNP: :rs1544410, rs2228570	PMID:38706548|REF_RGD_ID:630350572
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:17236578|PMID:20231985|REF_RGD_ID:4889830|REF_RGD_ID:4889849
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' UTR (human)	PMID:18397302|REF_RGD_ID:4889842
12107496	VDR	vitamin D receptor	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260115	RGD		DNA:SNP	PMID:39260130|REF_RGD_ID:630350412
12107496	VDR	vitamin D receptor	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:619561	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
12107496	VDR	vitamin D receptor	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228570 (human)	PMID:23034014|REF_RGD_ID:8157625
12107496	VDR	vitamin D receptor	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs731236, rs1544410, rs7975232 (human)	PMID:23034014|REF_RGD_ID:8157625
12107496	VDR	vitamin D receptor	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs7975232(human)	PMID:26190642|REF_RGD_ID:11560790
12107496	VDR	vitamin D receptor	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18534255
12107496	VDR	vitamin D receptor	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:9761785|REF_RGD_ID:4889864
12107496	VDR	vitamin D receptor	gene	DOID:3491	Turner syndrome	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7975232(human)	PMID:21823528|REF_RGD_ID:13432073
12107496	VDR	vitamin D receptor	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260321	RGD		DNA:SNPs: :rs1544410, rs731236	PMID:27669215|REF_RGD_ID:151665175
12107496	VDR	vitamin D receptor	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with HIV Infections;DNA:SNPs:3' UTR (human)	PMID:18712587|REF_RGD_ID:4889839
12107496	VDR	vitamin D receptor	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260228	RGD		mRNA:decreased expression:serum	PMID:31255688|REF_RGD_ID:632527187
12107496	VDR	vitamin D receptor	gene	DOID:4362	cervical cancer		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107496	VDR	vitamin D receptor	gene	DOID:4676	uremia		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
12107496	VDR	vitamin D receptor	gene	DOID:4914	esophagus adenocarcinoma	disease_progression	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:amplication: :	PMID:24951052|REF_RGD_ID:13432070
12107496	VDR	vitamin D receptor	gene	DOID:4914	esophagus adenocarcinoma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)	PMID:25910066|REF_RGD_ID:11055189
12107496	VDR	vitamin D receptor	gene	DOID:5082	liver cirrhosis		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:23622244|REF_RGD_ID:14402027
12107496	VDR	vitamin D receptor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:30218108|REF_RGD_ID:14402031
12107496	VDR	vitamin D receptor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with nonalcoholic fatty liver disease; DNA:SNP: :rs1544410(human)	PMID:30683615|REF_RGD_ID:14401752
12107496	VDR	vitamin D receptor	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:3' UTR (human)	PMID:18712587|REF_RGD_ID:4889839
12107496	VDR	vitamin D receptor	gene	DOID:552	pneumonia		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:17224129|REF_RGD_ID:4889851
12107496	VDR	vitamin D receptor	gene	DOID:552	pneumonia	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2239185(human)	PMID:25367052|REF_RGD_ID:11074745
12107496	VDR	vitamin D receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107496	VDR	vitamin D receptor	gene	DOID:630	genetic disease		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:25741868
12107496	VDR	vitamin D receptor	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic;DNA:SNP: :rs2228570(human)	PMID:25541958|REF_RGD_ID:14402025
12107496	VDR	vitamin D receptor	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with alcoholic liver cirrhosis;DNA:haplotype::	PMID:20572305|REF_RGD_ID:14402026
12107496	VDR	vitamin D receptor	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2228570 (human)	PMID:21820934|REF_RGD_ID:8158077
12107496	VDR	vitamin D receptor	gene	DOID:7148	rheumatoid arthritis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1544410 (human)	PMID:21820934|REF_RGD_ID:8158077
12107496	VDR	vitamin D receptor	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hashimoto thyroiditis	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:824	periodontitis		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis | ClinVar Annotator: match by term: periodontitis	PMID:25741868
12107496	VDR	vitamin D receptor	gene	DOID:8466	retinal degeneration		ISO	RGD:3959	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds: (rs731236) (human)	PMID:17763859|REF_RGD_ID:8157633
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:multiple	PMID:24320988|REF_RGD_ID:8157635
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, cds: (rs731236, rs1544410, rs7975232) (human)	PMID:21951018|REF_RGD_ID:8158062
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1012A>G (rs4516035) (human)	PMID:24320988|REF_RGD_ID:8157635
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron, cds, enhancer:multiple	PMID:24055231|REF_RGD_ID:8158056
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter, exon:-1012A>G, (rs731236, rs2228570) (human)	PMID:15864137|REF_RGD_ID:8158072
12107496	VDR	vitamin D receptor	gene	DOID:8893	psoriasis	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:pI352 (rs731236) (human)	PMID:20716226|REF_RGD_ID:8158081
12107496	VDR	vitamin D receptor	gene	DOID:8923	skin melanoma	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:19615888|PMID:22576141|REF_RGD_ID:8158071|REF_RGD_ID:8158075
12107496	VDR	vitamin D receptor	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:missense mutation, silent mutation: :p,M1T, p.I352 (c.1056T>C) (rs2228570, rs731236) (human)	PMID:16990805|REF_RGD_ID:8157629
12107496	VDR	vitamin D receptor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:15899948|REF_RGD_ID:1580363
12107496	VDR	vitamin D receptor	gene	DOID:9000169	Systemic Inflammatory Response Syndrome	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with pneumonia; DNA:SNP: :rs2239185(human)	PMID:25367052|REF_RGD_ID:11074745
12107496	VDR	vitamin D receptor	gene	DOID:9000495	Tremor		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:SNP:intron: (rs1544410) (human)	PMID:9613456|REF_RGD_ID:8158057
12107496	VDR	vitamin D receptor	gene	DOID:9001004	Chronic Periodontitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs731236(human)	PMID:14572874|REF_RGD_ID:14402032
12107496	VDR	vitamin D receptor	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets	PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098
12107496	VDR	vitamin D receptor	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets	PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19049339|PMID:19169476|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:29949513|PMID:3024987|PMID:31557081|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098
12107496	VDR	vitamin D receptor	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS	PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19049339|PMID:19169476|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:24859502|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:28377956|PMID:2849209|PMID:28492532|PMID:28620554|PMID:29949513|PMID:3024987|PMID:30967742|PMID:31557081|PMID:32997713|PMID:35738466|PMID:37080976|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9284761|PMID:9360557|PMID:9495519|PMID:9536098
12107496	VDR	vitamin D receptor	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10204116|PMID:10707958|PMID:11564167|PMID:15308610|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19049339|PMID:19169476|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:24859502|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:28377956|PMID:2849209|PMID:28492532|PMID:28620554|PMID:29949513|PMID:3024987|PMID:30967742|PMID:31557081|PMID:32997713|PMID:35738466|PMID:36705686|PMID:37080976|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9284761|PMID:9360557|PMID:9495519|PMID:9536098
12107496	VDR	vitamin D receptor	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:21168462|PMID:22145479|PMID:24859502|PMID:25741868|PMID:28492532|PMID:28620554|PMID:30967742|PMID:35738466|PMID:8392085
12107496	VDR	vitamin D receptor	gene	DOID:9001738	Hypercalciuria		ISO	RGD:3959	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, small intestine	PMID:19929616|REF_RGD_ID:4889914
12107496	VDR	vitamin D receptor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12446453
12107496	VDR	vitamin D receptor	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:placenta:	PMID:25716068|REF_RGD_ID:11058690
12107496	VDR	vitamin D receptor	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:11564167|PMID:25741868
12107496	VDR	vitamin D receptor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20347977
12107496	VDR	vitamin D receptor	gene	DOID:9002407	Spinal Fractures	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:mutations, haplotype:intron, exon: (human)	PMID:12915669|REF_RGD_ID:10045836
12107496	VDR	vitamin D receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:21287548|REF_RGD_ID:13210791
12107496	VDR	vitamin D receptor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:21318047|REF_RGD_ID:8158064
12107496	VDR	vitamin D receptor	gene	DOID:9003386	Sunburn	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2228570 (human)	PMID:19105801|REF_RGD_ID:8158067
12107496	VDR	vitamin D receptor	gene	DOID:9004017	Chronic Hepatitis C	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:26725771|REF_RGD_ID:14401749
12107496	VDR	vitamin D receptor	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:27263300|REF_RGD_ID:14401746
12107496	VDR	vitamin D receptor	gene	DOID:9004331	Parathyroid Neoplasms	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :(rs1544410),(rs7975232),(rs731236)(human)	PMID:9070272|REF_RGD_ID:13432057
12107496	VDR	vitamin D receptor	gene	DOID:9004657	Weight Gain		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:30905785|REF_RGD_ID:14402029
12107496	VDR	vitamin D receptor	gene	DOID:9004657	Weight Gain		ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:30905785|REF_RGD_ID:14402029
12107496	VDR	vitamin D receptor	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:3959	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:increased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12107496	VDR	vitamin D receptor	gene	DOID:9004914	Postmenopausal Osteoporosis	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:exon: (rs2228570) (human)	PMID:16604479|REF_RGD_ID:8158082
12107496	VDR	vitamin D receptor	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868|PMID:28492532
12107496	VDR	vitamin D receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:15333467|REF_RGD_ID:8158073
12107496	VDR	vitamin D receptor	gene	DOID:9005372	Inflammation		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with Respiratory Syncytial Virus Infections	PMID:20008294|REF_RGD_ID:4889832
12107496	VDR	vitamin D receptor	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9525346
12107496	VDR	vitamin D receptor	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:619561	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:placenta	PMID:25448751|REF_RGD_ID:632518022
12107496	VDR	vitamin D receptor	gene	DOID:9006359	Vitamin D Deficiency	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		associated with nonalcoholic fatty liver disease; DNA:SNP: :rs2228570(human)	PMID:30683615|REF_RGD_ID:14401752
12107496	VDR	vitamin D receptor	gene	DOID:9006741	Acute Hepatitis	treatment	ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:20523341|REF_RGD_ID:14401751
12107496	VDR	vitamin D receptor	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:18266602|REF_RGD_ID:4889843
12107496	VDR	vitamin D receptor	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10735810 (human)	PMID:17703412|REF_RGD_ID:4889847
12107496	VDR	vitamin D receptor	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:3959	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12107496	VDR	vitamin D receptor	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets | ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT	PMID:10204116|PMID:10707958|PMID:11564167|PMID:1652893|PMID:17130574|PMID:17371163|PMID:17576681|PMID:17970811|PMID:18159135|PMID:18279374|PMID:18593774|PMID:19682379|PMID:20200114|PMID:21073129|PMID:21168462|PMID:21424181|PMID:2174914|PMID:2177843|PMID:21931507|PMID:22145479|PMID:23180655|PMID:24033266|PMID:24246681|PMID:2557627|PMID:2558018|PMID:25741868|PMID:26177022|PMID:26198224|PMID:26590811|PMID:26631034|PMID:26787776|PMID:27164139|PMID:27607899|PMID:27778467|PMID:2849209|PMID:28492532|PMID:28620554|PMID:3024987|PMID:35738466|PMID:8392085|PMID:8675579|PMID:8862631|PMID:8961271|PMID:9005998|PMID:9360557|PMID:9495519|PMID:9536098
12107496	VDR	vitamin D receptor	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RICKETS, HEREDITARY VITAMIN D-RESISTANT	PMID:21168462|PMID:22145479|PMID:24859502|PMID:25741868|PMID:28492532|PMID:28620554|PMID:30967742|PMID:35738466|PMID:8392085
12107496	VDR	vitamin D receptor	gene	DOID:9007661	Dwarfism		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:rs11568820(human)	PMID:24015038|REF_RGD_ID:13217415
12107496	VDR	vitamin D receptor	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: rs11568820(human)	PMID:26400282|REF_RGD_ID:11353416
12107496	VDR	vitamin D receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:25801026|REF_RGD_ID:14402022
12107496	VDR	vitamin D receptor	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:11484	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression, activity:heart:	PMID:25365634|REF_RGD_ID:13432076
12107496	VDR	vitamin D receptor	gene	DOID:9008680	Respiratory Tract Infections	susceptibility	ISO	RGD:619561	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs4334089	PMID:30132432|REF_RGD_ID:632518021
12107496	VDR	vitamin D receptor	gene	DOID:9008914	Lead Poisoning		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20692022|PMID:23433214
12107496	VDR	vitamin D receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16280049|PMID:22892281
12107496	VDR	vitamin D receptor	gene	DOID:9065	leishmaniasis		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:17551101|REF_RGD_ID:8158083
12107496	VDR	vitamin D receptor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107496	VDR	vitamin D receptor	gene	DOID:9206	Barrett's esophagus	susceptibility	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:exon:rs1989969,rs2238135 (human)	PMID:25910066|REF_RGD_ID:11055189
12107496	VDR	vitamin D receptor	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:619561	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs731236, rs1544410, rs7975232 (human)	PMID:22856230|REF_RGD_ID:8158070
12107496	VDR	vitamin D receptor	gene	DOID:9446	cholangitis		ISO	RGD:619561	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver	PMID:28146070|REF_RGD_ID:14401745
12107496	VDR	vitamin D receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:11484	D	RGD:9068941	20200609	RGD			PMID:30905785|REF_RGD_ID:14402029
12107496	VDR	vitamin D receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:619561	D	RGD:9068941	20200609	RGD			PMID:30905785|REF_RGD_ID:14402029
12107496	VDR	vitamin D receptor	gene	DOID:987	alopecia		ISO	RGD:619561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:11564167|PMID:25741868
12107513	SFRP5	secreted frizzled related protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321235	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107513	SFRP5	secreted frizzled related protein 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031
12107513	SFRP5	secreted frizzled related protein 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321235	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283316
12107519	SNUPN	snurportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107519	SNUPN	snurportin 1	gene	DOID:0061134	autosomal recessive limb-girdle muscular dystrophy type 29		ISO	RGD:1353124	D	RGD:7240710	20240731	OMIM			
12107519	SNUPN	snurportin 1	gene	DOID:0061134	autosomal recessive limb-girdle muscular dystrophy type 29		ISO	RGD:1353124	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SNUPN deficiency muscular dystrophy	PMID:25741868|PMID:38413582
12107519	SNUPN	snurportin 1	gene	DOID:1115	sarcoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107519	SNUPN	snurportin 1	gene	DOID:11162	respiratory failure		ISO	RGD:1353124	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: respiratory insufficiency	PMID:25741868|PMID:38366623|PMID:38413582
12107519	SNUPN	snurportin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12107519	SNUPN	snurportin 1	gene	DOID:3275	thymoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107519	SNUPN	snurportin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107519	SNUPN	snurportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107519	SNUPN	snurportin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107519	SNUPN	snurportin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107519	SNUPN	snurportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28327206
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:1909	melanoma		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:2661	myoepithelioma		ISO	RGD:736425	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:736425	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12107532	HIVEP1	HIVEP zinc finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:114	heart disease		ISO	RGD:733142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:1909	melanoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:3275	thymoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:630	genetic disease		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29167417|PMID:36806574
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:8466	retinal degeneration		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy, progressive, SLC4A3-related	PMID:21738669|PMID:22065099|PMID:36325094|PMID:38028226|PMID:38334230
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:733142	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9004002	Short QT Syndrome 7		ISO	RGD:733142	D	RGD:7240710	20230215	OMIM			
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9004002	Short QT Syndrome 7		ISO	RGD:733142	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHORT QT SYNDROME 7 | ClinVar Annotator: match by term: SLC4A3-related condition | ClinVar Annotator: match by term: Short QT syndrome 7	PMID:25741868|PMID:29167417|PMID:30420954|PMID:31315195|PMID:36806574|PMID:40439641
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107555	SLC4A3	solute carrier family 4 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:734174	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Very early onset inflammatory bowel disease	PMID:25741868|PMID:28492532|PMID:30709874
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:sputum, macrophage, neutrophil	PMID:20367952|REF_RGD_ID:4266589
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0070193	autosomal recessive chronic granulomatous disease 4		ISO	RGD:734174	D	RGD:7240710	20180130	OMIM			
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0070193	autosomal recessive chronic granulomatous disease 4		ISO	RGD:734174	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4 | ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	PMID:10759707|PMID:10910929|PMID:10914676|PMID:11037300|PMID:11112388|PMID:1415254|PMID:16199547|PMID:16608528|PMID:16937026|PMID:17576681|PMID:18422995|PMID:18546332|PMID:19292887|PMID:19388116|PMID:20167518|PMID:21902598|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:25741868|PMID:26915675|PMID:27048830|PMID:27980538|PMID:28251166|PMID:28492532|PMID:28750028|PMID:29454792|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31375816|PMID:32009323|PMID:32040803|PMID:33629196|PMID:33717137|PMID:34547651|PMID:35140711|PMID:36241643|PMID:36606663|PMID:38954121|PMID:9536098
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:0070195	X-linked chronic granulomatous disease		ISO	RGD:734174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked chronic granulomatous disease	PMID:28492532
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10534	stomach cancer		ISO	RGD:734174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:1074	kidney failure		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23325087
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10763	hypertension		ISO	RGD:620573	D	RGD:9068941	20200609	RGD			PMID:17109653|REF_RGD_ID:4775206
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10763	hypertension		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney cortex	PMID:20018820|REF_RGD_ID:2317853
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10763	hypertension		ISO	RGD:734174	D	RGD:9068941	20200609	RGD			PMID:12729892|REF_RGD_ID:1580276
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10763	hypertension		ISO	RGD:734174	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:16685210|PMID:17324946|PMID:20505675|PMID:32147540
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:10825	essential hypertension		ISO	RGD:734174	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:114	heart disease		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:13406	pulmonary sarcoidosis	no_association	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)	PMID:16608528|REF_RGD_ID:4780358
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:1909	melanoma		ISO	RGD:734174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:1936	atherosclerosis		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20720404
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:2841	asthma	susceptibility	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-930A>G, 242C>T, 640A>G (human)	PMID:18716406|REF_RGD_ID:4772770
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:2841	asthma	susceptibility	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :-930A>G (human)	PMID:19459419|REF_RGD_ID:4311041
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:SNPs:exons:214C>T (rs4673), 521C>T (rs17845095) (human)	PMID:16608528|REF_RGD_ID:4780358
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.H72Y (human)	PMID:19567155|REF_RGD_ID:4304108
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-930A>G, 242C>T (human)	PMID:20080081|REF_RGD_ID:4293707
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3262	phagocyte bactericidal dysfunction		ISO	RGD:734174	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple (human)	PMID:18422995|REF_RGD_ID:4779762
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3265	chronic granulomatous disease		ISO	RGD:734174	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic granulomatous disease	PMID:10759707|PMID:10910929|PMID:1415254|PMID:16199547|PMID:16937026|PMID:17576681|PMID:1763037|PMID:18546332|PMID:18849343|PMID:19292887|PMID:19388116|PMID:19949658|PMID:20167518|PMID:20407811|PMID:20674832|PMID:21058909|PMID:21190454|PMID:22336310|PMID:2243141|PMID:22562447|PMID:22876374|PMID:22924696|PMID:23002911|PMID:23910690|PMID:23957209|PMID:24607052|PMID:25741868|PMID:26185101|PMID:26936803|PMID:27048830|PMID:27537055|PMID:27614387|PMID:27701760|PMID:28341171|PMID:28492532|PMID:28941186|PMID:29454792|PMID:29560547|PMID:30470980|PMID:30709874|PMID:30716179|PMID:31364312|PMID:31456102|PMID:31813112|PMID:31847883|PMID:32040803|PMID:32081864|PMID:32506450|PMID:32720330|PMID:33717137|PMID:33746979|PMID:34547651|PMID:35140711|PMID:35960392|PMID:36122532|PMID:36214981|PMID:36606663|PMID:37344829|PMID:37898571|PMID:39052144|PMID:7964505|PMID:8168815|PMID:9536098
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3275	thymoma		ISO	RGD:734174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:3393	coronary artery disease		ISO	RGD:734174	D	RGD:9068941	20200609	RGD			PMID:14709372|REF_RGD_ID:1578443
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:5082	liver cirrhosis		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:5844	myocardial infarction		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		mRNA:increase expression:ventricle myocardium:	PMID:11243862|REF_RGD_ID:1599690
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:5844	myocardial infarction		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myocardium	PMID:18762777|REF_RGD_ID:2317860
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:630	genetic disease		ISO	RGD:734174	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:6432	pulmonary hypertension		ISO	RGD:620573	D	RGD:9068941	20200609	RGD			PMID:18424632|REF_RGD_ID:4773907
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:6432	pulmonary hypertension		ISO	RGD:734175	D	RGD:9068941	20200609	RGD		associated with Anoxia;mRNA, protein:increased expression:lung	PMID:18952568|REF_RGD_ID:4762683
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:783	end stage renal disease		ISO	RGD:620573	D	RGD:9068941	20200609	RGD			PMID:19420110|REF_RGD_ID:2306994
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:783	end stage renal disease		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19420110
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:8947	diabetic retinopathy		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19685553|REF_RGD_ID:2317854
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:16345062|REF_RGD_ID:1599510
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9000528	Coronary Disease		ISO	RGD:734174	D	RGD:9068941	20200609	RGD			PMID:10488959|REF_RGD_ID:1580275
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9001371	Eosinophilia		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		DNA:deletion:splice junction:	PMID:19406829|REF_RGD_ID:11040542
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:734174	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:SNP: :242C>T (human)	PMID:14747204|REF_RGD_ID:8695982
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620573	D	RGD:9068941	20200609	RGD			PMID:15148062|REF_RGD_ID:1599683
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:20226688|REF_RGD_ID:2317852
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620573	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas:	PMID:23905384|REF_RGD_ID:11040693
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11812764|PMID:12967931
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:620573	D	RGD:9068941	20200609	RGD			PMID:16741160|REF_RGD_ID:2317864
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15531508
12107592	CYBA	cytochrome b-245 alpha chain	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:734174	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell:	PMID:19222940|REF_RGD_ID:11040545
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1318381	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:1115	sarcoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:1909	melanoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12107600	PILRA	paired immunoglobin like type 2 receptor alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:19631310|PMID:21450060|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:28492532
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:0060762	restrictive dermopathy		ISO	RGD:1316552	D	RGD:9068941	20220825	MouseDO		OMIM:275210	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:10892	hypospadias		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:14985385|PMID:25741868
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:1115	sarcoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:1324	lung cancer		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:3275	thymoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:630	genetic disease		ISO	RGD:1316551	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19631310|PMID:21450060|PMID:25741868|PMID:28492532
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		IAGP		D	RGD:12801476	20250716	OMIA		Ichthyosis, SLC27A4-related	PMID:26506231|PMID:26242581|PMID:34796560|PMID:34861369
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:7240710	20180130	OMIM			
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9001309	Ichthyosis Prematurity Syndrome		ISO	RGD:1316551	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS PREMATURITY SYNDROME | ClinVar Annotator: match by term: Ichthyosis congenita IV | ClinVar Annotator: match by term: Ichthyosis prematurity syndrome | ClinVar Annotator: match by term: SLC27A4-related condition	PMID:19631310|PMID:21450060|PMID:21856041|PMID:22927265|PMID:25741868|PMID:26783444|PMID:27025581|PMID:27168232|PMID:27224495|PMID:28492532|PMID:30077338|PMID:30536735|PMID:31595490|PMID:31681265|PMID:33935161
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1316551	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:15168018|REF_RGD_ID:1625638
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:1307383	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:16248953|REF_RGD_ID:1625640
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9834	hyperopia		ISO	RGD:1316551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12107615	SLC27A4	solute carrier family 27 member 4	gene	DOID:9970	obesity		ISO	RGD:1316551	D	RGD:9068941	20200609	RGD		mRNA:increased expression:subcutaneous adipose tissue	PMID:15168018|REF_RGD_ID:1625638
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:10534	stomach cancer		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:1909	melanoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:3275	thymoma		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:5041	esophageal cancer		ISO	RGD:1316391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107632	SH2D3C	SH2 domain containing 3C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0060058	lymphoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0070640	hereditary spastic paraplegia 18A		ISO	RGD:1350824	D	RGD:7240710	20250806	OMIM			
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0070640	hereditary spastic paraplegia 18A		ISO	RGD:1350824	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 18a, autosomal dominant	PMID:25741868|PMID:28492532|PMID:32042907|PMID:32094424|PMID:34734492|PMID:38607533
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0070641	hereditary spastic paraplegia 18B		ISO	RGD:1350824	D	RGD:7240710	20250806	OMIM			
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0070641	hereditary spastic paraplegia 18B		ISO	RGD:1350824	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 18B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 18b, autosomal recessive	PMID:25741868|PMID:42120987
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:0110771	hereditary spastic paraplegia 18		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ERLIN2-related condition | ClinVar Annotator: match by term: Hereditary spastic paraplegia 18	PMID:25741868|PMID:28492532
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:1059	intellectual disability		ISO	RGD:1350824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:1324	lung cancer		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:18414213|PMID:25741868|PMID:28492532
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:607	paraplegia		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21330303|PMID:23109145|PMID:24482476|PMID:25741868|PMID:27824013|PMID:28492532|PMID:28832565|PMID:32042907|PMID:32147972|PMID:34734492|PMID:38607533|PMID:9536098
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:630	genetic disease		ISO	RGD:1350824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12107669	ERLIN2	ER lipid raft associated 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350824	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:0080357	mitochondrial complex IV deficiency nuclear type 2		ISO	RGD:1352912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:0080360	mitochondrial complex IV deficiency nuclear type 13		ISO	RGD:1352912	D	RGD:7240710	20180130	OMIM			
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:0080360	mitochondrial complex IV deficiency nuclear type 13		ISO	RGD:1352912	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COA6-related condition | ClinVar Annotator: match by term: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 13	PMID:24549041|PMID:25741868|PMID:28492532|PMID:38703036
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:1115	sarcoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:630	genetic disease		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12107705	COA6	cytochrome c oxidase assembly factor 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12107715	RAB6A	RAB6A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532|PMID:31061746
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:0050544	hypermethioninemia		ISO	RGD:732753	D	RGD:7240710	20180130	OMIM			
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:0050544	hypermethioninemia		ISO	RGD:732753	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deficiency of methionine adenosyltransferase | ClinVar Annotator: match by term: Hepatic methionine adenosyltransferase deficiency | ClinVar Annotator: match by term: Isolated Persistent Hypermethioninemia | ClinVar Annotator: match by term: MAT1A-related condition | ClinVar Annotator: match by term: hypermethioninemia	PMID:10677294|PMID:11278456|PMID:15935930|PMID:16199547|PMID:16435220|PMID:17576681|PMID:18500573|PMID:20675163|PMID:22178350|PMID:23425511|PMID:23430947|PMID:24231718|PMID:24445979|PMID:25638462|PMID:25741868|PMID:26289392|PMID:26933843|PMID:28186605|PMID:28492532|PMID:28748147|PMID:30389272|PMID:30612563|PMID:31061746|PMID:32335878|PMID:32496220|PMID:34794485|PMID:35095998|PMID:35760084|PMID:36246604|PMID:36704196|PMID:36787440|PMID:39511588|PMID:7560086|PMID:8770875|PMID:9042912|PMID:9536098
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:10534	stomach cancer		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:1115	sarcoma		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:1909	melanoma		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:2841	asthma		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:31061746
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:3213	demyelinating disease		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8770875
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:630	genetic disease		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12060674
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9002221	Hyperplasia		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12060674
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9003507	Premature Birth		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532|PMID:31061746
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7560086|PMID:8770875
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665415
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:936	brain disease		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8770875
12107731	MAT1A	methionine adenosyltransferase 1A	gene	DOID:9452	steatotic liver disease		ISO	RGD:732753	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12060674
12107744	CD226	CD226 molecule	gene	DOID:1324	lung cancer		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107744	CD226	CD226 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107744	CD226	CD226 molecule	gene	DOID:289	endometriosis		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12107744	CD226	CD226 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12107744	CD226	CD226 molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12107744	CD226	CD226 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107744	CD226	CD226 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12107744	CD226	CD226 molecule	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1323011	D	RGD:9068941	20201118	RGD			PMID:21695691|REF_RGD_ID:40818295
12107744	CD226	CD226 molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015041
12107744	CD226	CD226 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107744	CD226	CD226 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323011	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26808113
12107744	CD226	CD226 molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323011	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107766	POLR1F	RNA polymerase I subunit F	gene	DOID:1324	lung cancer		ISO	RGD:1317243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107766	POLR1F	RNA polymerase I subunit F	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12107774	LOC611771	protein FAM209B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107780	TMEM234	transmembrane protein 234	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107780	TMEM234	transmembrane protein 234	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107780	TMEM234	transmembrane protein 234	gene	DOID:1909	melanoma		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107780	TMEM234	transmembrane protein 234	gene	DOID:4362	cervical cancer		ISO	RGD:1606787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107820	OR6C1L	olfactory receptor family 6 subfamily C member 1L	gene	DOID:4990	essential tremor		ISO	RGD:1342545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:10534	stomach cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:3021	acute kidney failure		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31825490
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:3070	high grade glioma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:4362	cervical cancer		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:5844	myocardial infarction		ISO	RGD:1315027	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myocardial infarction, susceptibility to, 1	PMID:24213632
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:9000918	Disease Progression		ISO	RGD:1315027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107823	LOC100856782	T-complex protein 1 subunit eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107850	LENG9	leukocyte receptor cluster member 9	gene	DOID:2661	myoepithelioma		ISO	RGD:1317999	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:1324	lung cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:1909	melanoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1312198	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12107905	STIM2	stromal interaction molecule 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107905	STIM2	stromal interaction molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1605399	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:24033266|PMID:25741868
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1605399	D	RGD:7240710	20180130	OMIM			
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:0110486	autosomal recessive nonsyndromic deafness 28		ISO	RGD:1605399	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 28 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 28 | ClinVar Annotator: match by term: Deafness, autosomal recessive 28 | ClinVar Annotator: match by term: TRIOBP-related condition	PMID:16385457|PMID:16385458|PMID:20510926|PMID:23967202|PMID:24033266|PMID:24853665|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27014650|PMID:27068579|PMID:27848944|PMID:28089734|PMID:28492532|PMID:29758562|PMID:30311386|PMID:31178897|PMID:34440452|PMID:35802133|PMID:35982127|PMID:36029164|PMID:36515421|PMID:36633841
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:11162	respiratory failure		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:11830	myopia		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1596	depressive disorder		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:1924	hypogonadism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:480	movement disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605399	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:24033266|PMID:25741868|PMID:28000701|PMID:28089734|PMID:28492532|PMID:29197352|PMID:30311386
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:16385457|PMID:16385458|PMID:20510926|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9008681	Deafness		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:936	brain disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9834	hyperopia		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12107928	TRIOBP	TRIO and F-actin binding protein	gene	DOID:9849	Meniere's disease		ISO	RGD:1605399	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:35802133
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:0050883	infantile cerebellar-retinal degeneration		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile cerebellar-retinal degeneration	PMID:25741868
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733267	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:0111650	ectodermal dysplasia 13		ISO	RGD:733267	D	RGD:7240710	20190315	OMIM			
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:0111650	ectodermal dysplasia 13		ISO	RGD:733267	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 13, HAIR/TOOTH TYPE | ClinVar Annotator: match by term: Ectodermal dysplasia 13, hair/tooth type	PMID:25741868
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12107955	KREMEN1	kringle containing transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107981	WRN	WRN RecQ like helicase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:0050902	medulloblastoma		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:16673358|PMID:16786514|PMID:24033266|PMID:25182132|PMID:25390333|PMID:25741868|PMID:27667302|PMID:28492532|PMID:8968742|PMID:9225981
12107981	WRN	WRN RecQ like helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12107981	WRN	WRN RecQ like helicase	gene	DOID:1115	sarcoma		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12107981	WRN	WRN RecQ like helicase	gene	DOID:11162	respiratory failure		ISO	RGD:1318280	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Progressive pulmonary failure	PMID:11863428|PMID:36214313
12107981	WRN	WRN RecQ like helicase	gene	DOID:12176	goiter		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:1324	lung cancer		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:1580	diffuse scleroderma		ISO	RGD:1318280	D	RGD:9068941	20200609	RGD			PMID:16906373|REF_RGD_ID:10042980
12107981	WRN	WRN RecQ like helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:1612	breast cancer		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:1909	melanoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:2030	anxiety disorder		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12107981	WRN	WRN RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318280	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:15609317|PMID:24728327|PMID:25637295|PMID:25741868|PMID:28492532|PMID:36964972
12107981	WRN	WRN RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:15609317|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:3070	high grade glioma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12107981	WRN	WRN RecQ like helicase	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:16673358|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:3275	thymoma		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:3393	coronary artery disease		ISO	RGD:1318280	D	RGD:9068941	20200609	RGD			PMID:11186893|REF_RGD_ID:1580824
12107981	WRN	WRN RecQ like helicase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1318280	D	RGD:9068941	20200609	RGD			PMID:15916825|REF_RGD_ID:1580820
12107981	WRN	WRN RecQ like helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318280	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12107981	WRN	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:7240710	20180130	OMIM			
12107981	WRN	WRN RecQ like helicase	gene	DOID:5688	Werner syndrome		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: WERNER SYNDROME | ClinVar Annotator: match by term: Werner syndrome	PMID:10069711|PMID:10189141|PMID:10220139|PMID:10347997|PMID:10543396|PMID:10811130|PMID:12244128|PMID:15355988|PMID:15609317|PMID:15888165|PMID:16199547|PMID:16673358|PMID:16786514|PMID:17478382|PMID:17576681|PMID:18205852|PMID:18414213|PMID:18810497|PMID:19763152|PMID:19824023|PMID:20307669|PMID:20443122|PMID:20657174|PMID:20802463|PMID:22188495|PMID:22406018|PMID:23045531|PMID:23583337|PMID:23849162|PMID:24033266|PMID:25059010|PMID:25182132|PMID:25390333|PMID:25619955|PMID:25637295|PMID:25741868|PMID:26296701|PMID:26344056|PMID:26546047|PMID:26689913|PMID:26901136|PMID:27084275|PMID:27153395|PMID:27559010|PMID:27667302|PMID:28202063|PMID:28492532|PMID:28795391|PMID:28861129|PMID:29753700|PMID:30140198|PMID:30206203|PMID:30568144|PMID:30891318|PMID:32041611|PMID:32191290|PMID:34646395|PMID:36292687|PMID:37461096|PMID:8602509|PMID:8968742|PMID:9012406|PMID:9225981|PMID:9241267|PMID:9450180|PMID:9536098
12107981	WRN	WRN RecQ like helicase	gene	DOID:5844	myocardial infarction		ISO	RGD:1318280	D	RGD:9068941	20200609	RGD			PMID:9021029|REF_RGD_ID:1580821
12107981	WRN	WRN RecQ like helicase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:630	genetic disease		ISO	RGD:1318280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:7998	hyperthyroidism		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:811	lipodystrophy		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:16673358|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:83	cataract		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:20443122|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9002644	Premature Aging		ISO	RGD:1318280	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21267443
12107981	WRN	WRN RecQ like helicase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12107981	WRN	WRN RecQ like helicase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:25741868
12107981	WRN	WRN RecQ like helicase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia	PMID:16673358|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9008840	DNA Repair-Deficiency Disorders		ISO	RGD:1318280	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616805
12107981	WRN	WRN RecQ like helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12107981	WRN	WRN RecQ like helicase	gene	DOID:9169	Wiskott-Aldrich syndrome		ISO	RGD:1318280	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1 | ClinVar Annotator: match by term: Wiskott-Aldrich syndrome	PMID:10069711|PMID:10220139|PMID:16786514|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin-resistant diabetes mellitus	PMID:16673358|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9452	steatotic liver disease		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:16673358|PMID:25741868|PMID:28492532
12107981	WRN	WRN RecQ like helicase	gene	DOID:9669	senile cataract	no_association	ISO	RGD:1318280	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C1367R (rs1346044) (human)	PMID:20808731|REF_RGD_ID:10042985
12107981	WRN	WRN RecQ like helicase	gene	DOID:9669	senile cataract	susceptibility	ISO	RGD:1318280	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C1367R (rs1346044) (human)	PMID:23334603|REF_RGD_ID:10042984
12107981	WRN	WRN RecQ like helicase	gene	DOID:9834	hyperopia		ISO	RGD:1318280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12869763|REF_RGD_ID:6483466
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:10528197|PMID:14566051|PMID:14615110|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:29500241|PMID:29566171|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220621	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:11414356|PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:20059470|PMID:20513133|PMID:21706448|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24033266|PMID:24161037|PMID:24247905|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:30046676|PMID:30305631|PMID:30609409|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30609409|PMID:30676336|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28752844|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:33213850|PMID:33224962|PMID:34169201|PMID:3480783|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169201|PMID:3480783|PMID:35372954|PMID:9536098|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:9536098|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21445332|PMID:21706448|PMID:21810760|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25525159|PMID:25710174|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:26895476|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28461395|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29327071|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30483272|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:37744338|PMID:9536098|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	PMID:14566051|PMID:16199547|PMID:16621965|PMID:16762990|PMID:16882452|PMID:17018561|PMID:17089378|PMID:17576681|PMID:19376828|PMID:20059470|PMID:20513133|PMID:21445332|PMID:21706448|PMID:21810760|PMID:23307876|PMID:23314101|PMID:23431077|PMID:23508668|PMID:23519521|PMID:23731345|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24033266|PMID:24161037|PMID:24247905|PMID:2431077|PMID:24460647|PMID:24799305|PMID:24944786|PMID:25381125|PMID:25443527|PMID:25525159|PMID:25710174|PMID:25741868|PMID:25899302|PMID:25951460|PMID:26054645|PMID:26307634|PMID:26559391|PMID:26895476|PMID:270646|PMID:27064621|PMID:27399110|PMID:28056875|PMID:28461395|PMID:28492532|PMID:28509134|PMID:28596415|PMID:28752844|PMID:29046944|PMID:29148534|PMID:29327071|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29566171|PMID:29644059|PMID:30046676|PMID:30305631|PMID:30377230|PMID:30483272|PMID:30609409|PMID:30676336|PMID:30905589|PMID:31945341|PMID:32424742|PMID:33213850|PMID:33224962|PMID:34004375|PMID:34169200|PMID:34169201|PMID:3480783|PMID:35372954|PMID:37369098|PMID:37744338|PMID:39097532|PMID:9536098|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10751138|PMID:10960475|PMID:11093164|PMID:11714708|PMID:14566051|PMID:15661753|PMID:16014961|PMID:16199547|PMID:16386793|PMID:16621965|PMID:16762990|PMID:17027083|PMID:17089378|PMID:17261436|PMID:17914026|PMID:18514989|PMID:19376828|PMID:19446882|PMID:19459807|PMID:20059470|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21706448|PMID:21840606|PMID:21906045|PMID:22410797|PMID:23307876|PMID:23314101|PMID:23389237|PMID:23431077|PMID:23475501|PMID:23508668|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24247905|PMID:24422172|PMID:24656451|PMID:24799305|PMID:24933457|PMID:25079699|PMID:25381125|PMID:25443527|PMID:25733390|PMID:25741868|PMID:25802092|PMID:25899302|PMID:26054645|PMID:26069743|PMID:26084023|PMID:26283675|PMID:26307634|PMID:26357573|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27190382|PMID:27268256|PMID:27718086|PMID:27799617|PMID:27959629|PMID:27974740|PMID:28056875|PMID:28492532|PMID:28596415|PMID:28750931|PMID:28821363|PMID:28844315|PMID:29148534|PMID:29282226|PMID:29500241|PMID:29511899|PMID:29533929|PMID:29556035|PMID:29563339|PMID:29566171|PMID:29567368|PMID:29644059|PMID:29693967|PMID:29695177|PMID:30039480|PMID:30046676|PMID:30377230|PMID:30674459|PMID:30890598|PMID:30905589|PMID:30916388|PMID:31118930|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32641076|PMID:32765494|PMID:33224962|PMID:33238263|PMID:33912760|PMID:33920896|PMID:34004375|PMID:34169200|PMID:34169201|PMID:34566977|PMID:3480783|PMID:35619721|PMID:36141710|PMID:36211394|PMID:36421183|PMID:36622444|PMID:37369098|PMID:37466676|PMID:37477760|PMID:37685848|PMID:37744338|PMID:38403763|PMID:39534187|PMID:9268348|PMID:9551389
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10751138|PMID:10960475|PMID:11093164|PMID:11714708|PMID:14566051|PMID:15661753|PMID:16014961|PMID:16199547|PMID:16386793|PMID:16621965|PMID:16762990|PMID:17027083|PMID:17089378|PMID:17261436|PMID:17914026|PMID:18514989|PMID:19376828|PMID:19446882|PMID:19459807|PMID:20059470|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21706448|PMID:21840606|PMID:21906045|PMID:22410797|PMID:23251215|PMID:23307876|PMID:23314101|PMID:23389237|PMID:23431077|PMID:23475501|PMID:23508668|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24161037|PMID:24247905|PMID:24422172|PMID:24656451|PMID:24799305|PMID:24933457|PMID:25079699|PMID:25188723|PMID:25381125|PMID:25443527|PMID:25733390|PMID:25741868|PMID:25802092|PMID:25899302|PMID:26054645|PMID:26069743|PMID:26084023|PMID:26283675|PMID:26307634|PMID:26357573|PMID:26559391|PMID:26826462|PMID:26989566|PMID:27064621|PMID:27190382|PMID:27268256|PMID:27718086|PMID:27799617|PMID:27959629|PMID:27974740|PMID:28056875|PMID:28492532|PMID:28596415|PMID:28750931|PMID:28821363|PMID:28844315|PMID:29046944|PMID:29148534|PMID:29282226|PMID:29500241|PMID:29511899|PMID:29533929|PMID:29556035|PMID:29563339|PMID:29566171|PMID:29567368|PMID:29644059|PMID:29693967|PMID:29695177|PMID:30039480|PMID:30046676|PMID:30377230|PMID:30674459|PMID:30890598|PMID:30905589|PMID:30916388|PMID:31118930|PMID:31589614|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32641076|PMID:32765494|PMID:33224962|PMID:33238263|PMID:33912760|PMID:33920896|PMID:34004375|PMID:34169200|PMID:34169201|PMID:34566977|PMID:34777475|PMID:34838142|PMID:35619721|PMID:35877417|PMID:36141710|PMID:36211394|PMID:36421183|PMID:36498532|PMID:36622444|PMID:37369098|PMID:37466676|PMID:37477760|PMID:37685848|PMID:37744338|PMID:38403763|PMID:39006921|PMID:39534187|PMID:40294836|PMID:9268348
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10751138|PMID:10960475|PMID:11093164|PMID:11714708|PMID:14566051|PMID:15661753|PMID:16014961|PMID:16199547|PMID:16386793|PMID:16621965|PMID:16762990|PMID:17027083|PMID:17089378|PMID:17261436|PMID:17914026|PMID:18514989|PMID:19376828|PMID:19446882|PMID:19459807|PMID:20059470|PMID:20301541|PMID:20513133|PMID:20595690|PMID:21706448|PMID:21840606|PMID:21906045|PMID:22410797|PMID:23307876|PMID:23314101|PMID:23389237|PMID:23431077|PMID:23475501|PMID:23508668|PMID:23780777|PMID:24005975|PMID:24029428|PMID:24247905|PMID:24422172|PMID:24656451|PMID:24799305|PMID:24933457|PMID:25079699|PMID:25381125|PMID:25443527|PMID:25733390|PMID:25741868|PMID:25802092|PMID:25899302|PMID:26054645|PMID:26069743|PMID:26084023|PMID:26283675|PMID:26307634|PMID:26357573|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27190382|PMID:27268256|PMID:27718086|PMID:27799617|PMID:27959629|PMID:27974740|PMID:28056875|PMID:28492532|PMID:28596415|PMID:28750931|PMID:28821363|PMID:28844315|PMID:29148534|PMID:29282226|PMID:29500241|PMID:29511899|PMID:29533929|PMID:29556035|PMID:29563339|PMID:29566171|PMID:29567368|PMID:29644059|PMID:29693967|PMID:29695177|PMID:30039480|PMID:30046676|PMID:30377230|PMID:30674459|PMID:30890598|PMID:30905589|PMID:30916388|PMID:31118930|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32641076|PMID:32765494|PMID:33224962|PMID:33238263|PMID:33912760|PMID:33920896|PMID:34004375|PMID:34169200|PMID:34169201|PMID:34566977|PMID:35619721|PMID:36141710|PMID:36211394|PMID:36421183|PMID:36622444|PMID:37369098|PMID:37466676|PMID:37477760|PMID:37685848|PMID:37744338|PMID:38403763|PMID:39534187|PMID:9268348
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:multiple (human)	PMID:20595690|REF_RGD_ID:11038684
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080301	atypical hemolytic-uremic syndrome	susceptibility	ISO	RGD:1346662	D	RGD:7240710	20190502	OMIM			
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:0080909	castration-resistant prostate carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30185663
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:10534	stomach cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:10591	pre-eclampsia	no_association	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A304V (human)	PMID:25710174|REF_RGD_ID:11352807
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:10591	pre-eclampsia	susceptibility	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.A304V (human)	PMID:21445332|REF_RGD_ID:6483459
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:1063	interstitial nephritis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial nephritis	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:1074	kidney failure		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:11664	nephrosclerosis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrosclerosis	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:25741868|PMID:33238263
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:12554	hemolytic-uremic syndrome	susceptibility	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		DNA:deletion, missense mutation:cds:p.D237_S238del, p.S206P (human)	PMID:14566051|REF_RGD_ID:11352770
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:1324	lung cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:2377	multiple sclerosis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21177319|REF_RGD_ID:6483460
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:2452	thrombophilia		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:placenta (human)	PMID:23042280|REF_RGD_ID:11352772
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:2773	contact dermatitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12055630|REF_RGD_ID:6483467
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:3021	acute kidney failure		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:3326	purpura		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:3459	breast carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:very strong diffuse staining on carcinomas	PMID:7532466|REF_RGD_ID:2293551
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significant association with tumor grade (p < 0.05), type (p < 0.001) and incidence of recurrence (p < 0.05)	PMID:15378282|REF_RGD_ID:2293547
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:4362	cervical cancer		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:expression associated with presence of complement C3d on tumor cells (p<0.02) and with tumor stage (p<0.04)	PMID:10744069|REF_RGD_ID:2293550
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:557	kidney disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:15661753|PMID:20595690|PMID:25741868|PMID:27064621|PMID:28492532
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:576	proteinuria		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:583	hemolytic anemia		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia | ClinVar Annotator: match by term: Microangiopathic hemolytic anemia	PMID:25741868
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:783	end stage renal disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868|PMID:33238263
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:784	chronic kidney disease		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:8622	measles		ISO	RGD:1346662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8402913
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:9358772|REF_RGD_ID:2293549
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9000363	Hematuria		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21852528|REF_RGD_ID:6483461
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:12183422|PMID:15726105|REF_RGD_ID:2306066|REF_RGD_ID:2306067
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:17214367|REF_RGD_ID:2306065
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		associated with Multiple Sclerosis	PMID:19456309|REF_RGD_ID:6483463
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9002884	Emphysema		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:21573156|REF_RGD_ID:6483458
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression, altered expression pattern:tumor:intense uniform staining of tumor cells vs heterogeneous staining of normal tissue and premalignant lesions	PMID:9358772|REF_RGD_ID:2293549
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9003505	Venous Thromboembolism	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:25684211|REF_RGD_ID:11352815
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous thrombosis	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:versus benign endometrium (p<0.0001)	PMID:10637067|REF_RGD_ID:2293548
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte (human)	PMID:22247341|REF_RGD_ID:6483457
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:934	viral infectious disease		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:monocyte (human)	PMID:23376460|REF_RGD_ID:11352813
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9470	bacterial meningitis		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD			PMID:16948860|REF_RGD_ID:6483465
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9538	multiple myeloma		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma cell (human)	PMID:16728275|REF_RGD_ID:11352814
12108033	LOC609365	CD46 molecule, complement regulatory protein-like	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346662	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood mononuclear cell (human)	PMID:16353080|REF_RGD_ID:11352810
12108067	NXN	nucleoredoxin	gene	DOID:0050581	brachydactyly		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
12108067	NXN	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:7240710	20190904	OMIM			
12108067	NXN	nucleoredoxin	gene	DOID:0060974	autosomal recessive Robinow syndrome 2		ISO	RGD:1321419	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: NXN-related condition | ClinVar Annotator: match by term: ROBINOW SYNDROME, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive 2	PMID:25741868|PMID:28492532|PMID:29276006
12108067	NXN	nucleoredoxin	gene	DOID:1324	lung cancer		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108067	NXN	nucleoredoxin	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1321419	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12108067	NXN	nucleoredoxin	gene	DOID:3275	thymoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108067	NXN	nucleoredoxin	gene	DOID:4362	cervical cancer		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108067	NXN	nucleoredoxin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108067	NXN	nucleoredoxin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321419	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108067	NXN	nucleoredoxin	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
12108067	NXN	nucleoredoxin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108067	NXN	nucleoredoxin	gene	DOID:9007661	Dwarfism		ISO	RGD:1321419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12108067	NXN	nucleoredoxin	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1321419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		human cells in mouse model	PMID:30453282|REF_RGD_ID:153323337
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		protein:increased expression:blood serum (human)	PMID:24892551|REF_RGD_ID:153323333
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313417	D	RGD:9068941	20220818	RGD		protein:increased expression:blood serum (mouse)	PMID:24892551|REF_RGD_ID:153323333
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313416	D	RGD:9068941	20220818	RGD		human cells in mouse model	PMID:21394108|REF_RGD_ID:153323335
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:9003690	Carcinoma, Lewis Lung		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
12108095	LECT2	leukocyte cell derived chemotaxin 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30453282
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:3275	thymoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316058	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108103	SLC4A1AP	solute carrier family 4 member 1 adaptor protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:15263032|REF_RGD_ID:41412189
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:0080176	meningococcal meningitis		ISO	RGD:1589662	D	RGD:9068941	20210226	RGD		protein:increased expression:sub-cortical, meninges, astrocyte	PMID:21299846|REF_RGD_ID:41412190
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:0080600	COVID-19		ISO	RGD:1349062	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:10325	silicosis	treatment	ISO	RGD:1589662	D	RGD:9068941	20210226	RGD			PMID:30391304|REF_RGD_ID:41412200
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:10534	stomach cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:1115	sarcoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:12053	cryptococcosis	disease_progression	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:28298522|REF_RGD_ID:41412191
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396	D	RGD:9068941	20260108	RGD		DNA:SNP:promoter:rs1318645	PMID:32740454|REF_RGD_ID:629146885
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396,RGD:1353561	D	RGD:9068941	20260108	RGD		DNA:SNP:promoter:rs1318645	PMID:32740454|REF_RGD_ID:629146885
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:1324	lung cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:1909	melanoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNP: :rs12998782(human)	PMID:28693442|REF_RGD_ID:41412192
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNPs: :rs2278589, rs6751745,rs6748401 (human)	PMID:27853145|REF_RGD_ID:41412194
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1349062	D	RGD:9068941	20210226	RGD		DNA:SNPs:introns:rs4491733,rs12998782,rs13389814,rs7559955 (human)	PMID:23617307|REF_RGD_ID:41412195
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:4362	cervical cancer		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9000113	Pneumococcal Meningitis		ISO	RGD:1589662	D	RGD:9068941	20210226	RGD		protein:increased expression:meninges, astrocyte	PMID:21299846|REF_RGD_ID:41412190
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:21562316|REF_RGD_ID:41412197
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9006732	Clostridium Infections	exacerbates	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD			PMID:20810988|REF_RGD_ID:41412193
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9008559	Bacterial Lung Diseases	disease_progression	ISO	RGD:1558468	D	RGD:9068941	20210226	RGD		association with Cryptococcal neoformans infection.	PMID:28298522|REF_RGD_ID:41412191
12108127	MARCO	macrophage receptor with collagenous structure	gene	DOID:9351	diabetes mellitus		ISO	RGD:1558468	D	RGD:9068941	20210226	RGD		protein:decreased expression:Alveolar macrophage	PMID:27630197|REF_RGD_ID:41412199
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1313116	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs560019) (human)	PMID:18438686|REF_RGD_ID:401851917
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:10534	stomach cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28327206
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1115	sarcoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1324	lung cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1574	alcohol use disorder		ISO	RGD:1313116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1612	breast cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:1909	melanoma		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:4362	cervical cancer		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1313116	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12108146	CDK20	cyclin dependent kinase 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:0080855	Parkinsonism		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:7240710	20180130	OMIM			
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:0090112	Nasu-Hakola disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | ClinVar Annotator: match by term: TYROBP-related condition	PMID:10888890|PMID:11109371|PMID:12370476|PMID:17125796|PMID:25741868|PMID:27658901|PMID:28492532|PMID:28620717|PMID:28716534|PMID:31996268|PMID:36133075
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:1307	dementia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:409	liver disease		ISO	RGD:1351113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12651611
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:630	genetic disease		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1303081	D	RGD:9068941	20210604	RGD			PMID:27049384|REF_RGD_ID:127229930
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9000495	Tremor		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Action tremor	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9000831	Hypokinesia		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1351113	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351113	D	RGD:8554872	20240402	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29930232|PMID:9536098
12108187	TYROBP	transmembrane immune signaling adaptor TYROBP	gene	DOID:9009089	Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly		ISO	RGD:1351113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly	
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1557988	D	RGD:9068941	20220825	MouseDO			
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:9000693	Mitochondrial Complex III Deficiency Nuclear Type 10		ISO	RGD:1350936	D	RGD:7240710	20200226	OMIM			
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:9000693	Mitochondrial Complex III Deficiency Nuclear Type 10		ISO	RGD:1350936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10	
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:628838	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:15730530|REF_RGD_ID:2303356
12108200	UQCRFS1	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1350936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:0051061	stroke		ISO	RGD:2097	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte (rat)	PMID:17922411|REF_RGD_ID:2313907
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:0051061	stroke		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :2354T>A (human)	PMID:19373490|REF_RGD_ID:2313886
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:10459	common cold		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:11865407|REF_RGD_ID:4890421
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:1612	breast cancer		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:polymorphism:g.-4800A>G (human)	PMID:18843019|REF_RGD_ID:2313902
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:1936	atherosclerosis		ISO	RGD:736460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16698924
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:1969	cerebral palsy		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:SNP(human)	PMID:18977990|REF_RGD_ID:2313892
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2349	arteriosclerosis		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		mRNA:increased expression:atherosclerotic lesions (human)	PMID:18258817|REF_RGD_ID:2313905
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2349	arteriosclerosis		ISO	RGD:736461	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta, adipose tissue (mouse)	PMID:17379835|REF_RGD_ID:2313913
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter:-169(A)21 (human)	PMID:10527888|REF_RGD_ID:5147466
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood, leukocyte	PMID:9642160|REF_RGD_ID:5147467
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma		ISO	RGD:736461	D	RGD:9068941	20200609	RGD			PMID:8879219|REF_RGD_ID:5147462
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma		ISO	RGD:736461	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11035107|REF_RGD_ID:4890422
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma	no_association	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:intron:IVS2+12C>A, IVS2+105T>C (human)	PMID:15784112|REF_RGD_ID:5147464
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma	no_association	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:20128419|REF_RGD_ID:4890407
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma	no_association	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:substitution, repeat:promoter:-336G>A, -169(A)19-23 (human)	PMID:12911785|REF_RGD_ID:5147465
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10507391 (human)	PMID:20067482|REF_RGD_ID:4890405
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:18547289|REF_RGD_ID:4890409
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:2921	glomerulonephritis	onset	ISO	RGD:2097	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, endothelial cell, cytoplasm (rat)	PMID:14733414|REF_RGD_ID:2313931
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:3393	coronary artery disease		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:19596330|REF_RGD_ID:2313883
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:3454	brain infarction		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X; DNA:polymorphism:g.162A>C rs4769055 (human)	PMID:18506375|REF_RGD_ID:2311309
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:3526	cerebral infarction		ISO	RGD:736460	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: ALOX5AP-related disorder	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:736460	D	RGD:7240710	20230505	OMIM			
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:3602	toxic encephalopathy		ISO	RGD:736460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:409	liver disease		ISO	RGD:736460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:557	kidney disease		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:g.8733T>C (rs3803278) (human)	PMID:19288030|REF_RGD_ID:2313888
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:576	proteinuria		ISO	RGD:736460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12649539
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:5844	myocardial infarction		ISO	RGD:736460	D	RGD:9068941	20200609	RGD			PMID:14770184|REF_RGD_ID:1578317
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:736460	D	RGD:9068941	20200609	RGD		DNA:snps:multiple (human)	PMID:19046748|REF_RGD_ID:2313891
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2097	D	RGD:9068941	20200609	RGD			PMID:8647941|REF_RGD_ID:734558
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		protein:increased expression:artery	PMID:9445303|REF_RGD_ID:1626154
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:769	neuroblastoma		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:neuroblastoma (human)	PMID:18591367|REF_RGD_ID:2313903
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal turbinate	PMID:19364335|REF_RGD_ID:5147461
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2097	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland tumor (rat)	PMID:18959458|REF_RGD_ID:2313895
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9005372	Inflammation		ISO	RGD:2097	D	RGD:9068941	20200609	RGD			PMID:19749079|REF_RGD_ID:5147469
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9005372	Inflammation		ISO	RGD:736461	D	RGD:9068941	20200609	RGD			PMID:19749079|REF_RGD_ID:5147469
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9006956	nephrotoxicity		ISO	RGD:2097	D	RGD:9068941	20250918	RGD		mRNA, protein:increased expression:kidney	PMID:28502039|REF_RGD_ID:626469569
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9007480	Hyperoxia		ISO	RGD:2097	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:12490039|REF_RGD_ID:4890420
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9970	obesity		ISO	RGD:736460	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:19596146|REF_RGD_ID:2313884
12108206	ALOX5AP	arachidonate 5-lipoxygenase activating protein	gene	DOID:9970	obesity		ISO	RGD:736461	D	RGD:9068941	20200609	RGD		mRNA:increased expression:adipose tissue (mouse)	PMID:17379835|REF_RGD_ID:2313913
12108225	VPS29	VPS29 retromer complex component	gene	DOID:1324	lung cancer		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108225	VPS29	VPS29 retromer complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108225	VPS29	VPS29 retromer complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108225	VPS29	VPS29 retromer complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108235	LIPJ	lipase family member J	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1603579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12108235	LIPJ	lipase family member J	gene	DOID:5041	esophageal cancer		ISO	RGD:1603579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108235	LIPJ	lipase family member J	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:10534	stomach cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1322089	D	RGD:9068941	20220825	MouseDO			
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:1324	lung cancer		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4362	cervical cancer		ISO	RGD:1322088	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108256	CMAS	cytidine monophosphate N-acetylneuraminic acid synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322790	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108268	TCEA3	transcription elongation factor A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0060058	lymphoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0061013	ovarian dysgenesis 9		ISO	RGD:1603315	D	RGD:7240710	20211222	OMIM			
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0061013	ovarian dysgenesis 9		ISO	RGD:1603315	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 9 | ClinVar Annotator: match by term: Ovarian dysgenesis 9	PMID:25741868
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1603315	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:10534	stomach cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:1909	melanoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:2394	ovarian cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:3275	thymoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:4362	cervical cancer		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:5041	esophageal cancer		ISO	RGD:1603315	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603315	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108283	SPIDR	scaffold protein involved in DNA repair	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0050856	oppositional defiant disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oppositional defiant disorder	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0060046	aphasia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0060260	ptosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0112166	autosomal dominant nonsyndromic deafness 75		ISO	RGD:1313479	D	RGD:7240710	20200226	OMIM			
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:0112166	autosomal dominant nonsyndromic deafness 75		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 75	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313479	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10283	prostate cancer		ISO	RGD:1313479	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10534	stomach cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10892	hypospadias		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:10907	microcephaly		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:11252	microcytic anemia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:12849	autistic disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:14219	renal tubular acidosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1826	epilepsy		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:30827496
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1829	urethral stricture		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urethral stenosis	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:1909	melanoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:3275	thymoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:3307	teratoma		ISO	RGD:1313479	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:423	myopathy		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:4362	cervical cancer		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:4428	dyslexia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:4667	kyphosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1313479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:5419	schizophrenia		ISO	RGD:1313479	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266|PMID:23042115
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:630	genetic disease		ISO	RGD:1313479	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:30827496
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:6364	migraine		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:8927	learning disability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868|PMID:30827496
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9003748	Thumb Deformity		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313479	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder with or without congenital anomalies	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9004552	Genu Varum		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu varum	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9006617	Fatigue		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9007402	Gliosis		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741898|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313479	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9009182	Developmental Delay with or without Dysmorphic Facies and Autism		ISO	RGD:1313479	D	RGD:7240710	20190911	OMIM			
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9009182	Developmental Delay with or without Dysmorphic Facies and Autism		ISO	RGD:1313479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Developmental delay with or without dysmorphic facies and autism | ClinVar Annotator: match by term: TRRAP-Related Disorder | ClinVar Annotator: match by term: TRRAP-related condition | ClinVar Annotator: match by term: TRRAP-related neurodevelopmental disorder | ClinVar Annotator: match by term: developmental delay with or without dysmorphic facies and autism	PMID:17576681|PMID:23934111|PMID:25741868|PMID:28492532|PMID:30424743|PMID:30827496|PMID:9536098
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108323	TRRAP	transformation/transcription domain associated protein	gene	DOID:9840	esotropia		ISO	RGD:1313479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:0080239	autosomal recessive intellectual developmental disorder 61		ISO	RGD:1351272	D	RGD:7240710	20190315	OMIM			
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:0080239	autosomal recessive intellectual developmental disorder 61		ISO	RGD:1351272	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 61 | ClinVar Annotator: match by term: RUSC2-related condition	PMID:25741868|PMID:27612186|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:1826	epilepsy		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:936	brain disease		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868|PMID:28492532
12108425	RUSC2	RUN and SH3 domain containing 2	gene	DOID:9970	obesity		ISO	RGD:1351272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12108451	NEU1	neuraminidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108451	NEU1	neuraminidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108451	NEU1	neuraminidase 1	gene	DOID:1909	melanoma		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108451	NEU1	neuraminidase 1	gene	DOID:3211	lysosomal storage disease		ISO	RGD:735984	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:10767332|PMID:11063730|PMID:19568825|PMID:24808020|PMID:25741868|PMID:26141460|PMID:28492532|PMID:34421504
12108451	NEU1	neuraminidase 1	gene	DOID:3275	thymoma		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108451	NEU1	neuraminidase 1	gene	DOID:3343	glycoproteinosis		ISO	RGD:735984	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Sialidosis	PMID:10767332|PMID:10944856|PMID:11063730|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:28492532|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098
12108451	NEU1	neuraminidase 1	gene	DOID:3343	glycoproteinosis		ISO	RGD:735984	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CHERRY RED SPOT--MYOCLONUS SYNDROME | ClinVar Annotator: match by term: Cherry red spot myoclonus syndrome | ClinVar Annotator: match by term: Glycoprotein neuraminidase deficiency | ClinVar Annotator: match by term: Pseudo-Hurler polydystrophy | ClinVar Annotator: match by term: Sialidosis	PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:15908988|PMID:16538002|PMID:16712870|PMID:17576681|PMID:18343720|PMID:19415310|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25153125|PMID:25401298|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30941624|PMID:32453490|PMID:32472645|PMID:32485644|PMID:32752208|PMID:33502066|PMID:35036219|PMID:9054950|PMID:9536098
12108451	NEU1	neuraminidase 1	gene	DOID:3343	glycoproteinosis		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sialidosis	PMID:10767332|PMID:11063730|PMID:11279074|PMID:14517945|PMID:14695530|PMID:16712870|PMID:18343720|PMID:19568825|PMID:21214877|PMID:24808020|PMID:25401298|PMID:25600812|PMID:25741868|PMID:26141460|PMID:28492532|PMID:29018767|PMID:29414417|PMID:30023283|PMID:30548430|PMID:30941624|PMID:31711734|PMID:32453490|PMID:32472645|PMID:32752208|PMID:34421504
12108451	NEU1	neuraminidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108451	NEU1	neuraminidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108451	NEU1	neuraminidase 1	gene	DOID:630	genetic disease		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21214877|PMID:24767253|PMID:25153125|PMID:25323282|PMID:25741868|PMID:27848944|PMID:27942463|PMID:28492532|PMID:37604664|PMID:38444573|PMID:9536098
12108451	NEU1	neuraminidase 1	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized tonic-clonic seizures	
12108451	NEU1	neuraminidase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:735984	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401298
12108451	NEU1	neuraminidase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10767332|PMID:19568825|PMID:24808020|PMID:25741868|PMID:26141460|PMID:28492532
12108451	NEU1	neuraminidase 1	gene	DOID:9008118	Neuraminidase Deficiency		ISO	RGD:735984	D	RGD:7240710	20180130	OMIM			
12108451	NEU1	neuraminidase 1	gene	DOID:9008118	Neuraminidase Deficiency		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive NEU1-related disorders | ClinVar Annotator: match by term: NEU1-related condition | ClinVar Annotator: match by term: NEUG DEFICIENCY | ClinVar Annotator: match by term: SIALIDOSIS, TYPE I | ClinVar Annotator: match by term: SIALIDOSIS, TYPE II	PMID:10767332|PMID:10944856|PMID:11063730|PMID:11279074|PMID:11470272|PMID:11702224|PMID:11829139|PMID:14517945|PMID:14695530|PMID:16361247|PMID:16538002|PMID:17576681|PMID:19415310|PMID:19568825|PMID:20706754|PMID:23291686|PMID:24808020|PMID:25153125|PMID:25741868|PMID:26141460|PMID:28492532|PMID:32472645|PMID:32485644|PMID:33502066|PMID:34476202|PMID:34992946|PMID:9054950|PMID:9536098
12108451	NEU1	neuraminidase 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:735984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:10767332|PMID:19568825|PMID:24808020|PMID:25741868|PMID:26141460|PMID:28492532
12108451	NEU1	neuraminidase 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:735984	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-immune hydrops fetalis	
12108466	KLHL40	kelch like family member 40	gene	DOID:0060249	scoliosis		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:36322148
12108466	KLHL40	kelch like family member 40	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:0110930	nemaline myopathy 8		ISO	RGD:1313352	D	RGD:7240710	20180130	OMIM			
12108466	KLHL40	kelch like family member 40	gene	DOID:0110930	nemaline myopathy 8		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEMALINE MYOPATHY 8 | ClinVar Annotator: match by term: Nemaline myopathy 8 | ClinVar Annotator: match by term: Nemaline myopathy 8, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23746549|PMID:24033266|PMID:25721947|PMID:25741868|PMID:26467025|PMID:26578207|PMID:27528495|PMID:27762439|PMID:28492532|PMID:28973083|PMID:30665247|PMID:31360996|PMID:32403337|PMID:34930662|PMID:35131284|PMID:35379254|PMID:36322148|PMID:9536098
12108466	KLHL40	kelch like family member 40	gene	DOID:0111568	congenital vertical talus		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus | ClinVar Annotator: match by term: Rocker bottom foot	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
12108466	KLHL40	kelch like family member 40	gene	DOID:11111	hydronephrosis		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
12108466	KLHL40	kelch like family member 40	gene	DOID:11830	myopia		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12108466	KLHL40	kelch like family member 40	gene	DOID:11836	clubfoot		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:2030	anxiety disorder		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12108466	KLHL40	kelch like family member 40	gene	DOID:2355	anemia		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:2841	asthma		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12108466	KLHL40	kelch like family member 40	gene	DOID:630	genetic disease		ISO	RGD:1313352	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12108466	KLHL40	kelch like family member 40	gene	DOID:674	cleft palate		ISO	RGD:1313352	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:23746549|PMID:25721947|PMID:25741868|PMID:28492532|PMID:34930662
12108466	KLHL40	kelch like family member 40	gene	DOID:767	muscular atrophy		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:8488	polyhydramnios		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:9003671	Hypoventilation		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoventilation	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254
12108466	KLHL40	kelch like family member 40	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313352	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:23746549|PMID:25721947|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:34930662|PMID:35379254|PMID:36322148
12108466	KLHL40	kelch like family member 40	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:1313352	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:23746549|PMID:25741868|PMID:27762439|PMID:28492532|PMID:31360996|PMID:35379254
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0060169	benign familial infantile epilepsy		ISO	RGD:735907	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: benign familial infantile epilepsy	PMID:25741868
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735907	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy | ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy | ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:16199547|PMID:16826524|PMID:17576681|PMID:18414213|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28492532|PMID:29930392|PMID:36674629|PMID:9536098
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:735907	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial sleep-related hypermotor epilepsy	PMID:16199547|PMID:17576681|PMID:28492532|PMID:28600779|PMID:9536098
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4		ISO	RGD:735907	D	RGD:7240710	20180130	OMIM			
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0060685	autosomal dominant nocturnal frontal lobe epilepsy 4		ISO	RGD:735907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: CHRNA2-related disorder | ClinVar Annotator: match by term: EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR | ClinVar Annotator: match by term: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 | ClinVar Annotator: match by term: Seizures, benign familial infantile, 6	PMID:16222669|PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0081119	benign familial infantile seizures 6		ISO	RGD:735907	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21703448|PMID:24950454|PMID:25741868|PMID:25847220|PMID:26467025|PMID:28166811|PMID:28492532|PMID:9536098
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:735907	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:1059	intellectual disability		ISO	RGD:735907	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:1826	epilepsy		ISO	RGD:735907	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:24950454|PMID:25741868|PMID:26467025|PMID:28166811|PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:1826	epilepsy		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:1969	cerebral palsy		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:2841	asthma	susceptibility	ISO	RGD:735907	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs11778371	PMID:19426955|REF_RGD_ID:631734384
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:630	genetic disease		ISO	RGD:735907	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29930392|PMID:36674629
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:735907	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy	PMID:28492532
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735907	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604730
12108476	CHRNA2	cholinergic receptor nicotinic alpha 2 subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735907	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
12108500	CTNND2	catenin delta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108500	CTNND2	catenin delta 2	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1353744	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108500	CTNND2	catenin delta 2	gene	DOID:1059	intellectual disability		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	
12108500	CTNND2	catenin delta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108500	CTNND2	catenin delta 2	gene	DOID:1115	sarcoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108500	CTNND2	catenin delta 2	gene	DOID:12849	autistic disorder		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	
12108500	CTNND2	catenin delta 2	gene	DOID:1324	lung cancer		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108500	CTNND2	catenin delta 2	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:1353744	D	RGD:9068941	20201218	RGD		DNA:polymorphism:multiple (human)	PMID:24256404|REF_RGD_ID:40902831
12108500	CTNND2	catenin delta 2	gene	DOID:1826	epilepsy		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12108500	CTNND2	catenin delta 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:2030	anxiety disorder	susceptibility	ISO	RGD:1353744	D	RGD:9068941	20201218	RGD		DNA:polymorphism:multiple (human)	PMID:24256404|REF_RGD_ID:40902831
12108500	CTNND2	catenin delta 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108500	CTNND2	catenin delta 2	gene	DOID:3068	glioblastoma		ISO	RGD:1353744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
12108500	CTNND2	catenin delta 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:535	sleep disorder		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	
12108500	CTNND2	catenin delta 2	gene	DOID:5419	schizophrenia		ISO	RGD:1353744	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12108500	CTNND2	catenin delta 2	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1353744	D	RGD:9068941	20201218	RGD		DNA:polymorphism:multiple (human)	PMID:24256404|REF_RGD_ID:40902831
12108500	CTNND2	catenin delta 2	gene	DOID:5723	optic atrophy		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108500	CTNND2	catenin delta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:630	genetic disease		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12835311|PMID:15733271|PMID:25106414|PMID:25473103|PMID:25741868|PMID:25807484|PMID:25839933|PMID:26601658|PMID:29127138
12108500	CTNND2	catenin delta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108500	CTNND2	catenin delta 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353744	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1353744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
12108500	CTNND2	catenin delta 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12108500	CTNND2	catenin delta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108527	PALS1	protein associated with LIN7 1, MAGUK p55 family member	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1317632	D	RGD:9068941	20220825	MouseDO			
12108564	GPC4	glypican 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108564	GPC4	glypican 4	gene	DOID:0060248	Simpson-Golabi-Behmel syndrome type 1		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplasia gigantism syndrome, X-linked	PMID:25741868
12108564	GPC4	glypican 4	gene	DOID:0111842	Keipert syndrome		ISO	RGD:1347282	D	RGD:7240710	20190626	OMIM			
12108564	GPC4	glypican 4	gene	DOID:0111842	Keipert syndrome		ISO	RGD:1347282	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPC4-related condition | ClinVar Annotator: match by term: KEIPERT SYNDROME | ClinVar Annotator: match by term: Keipert syndrome | ClinVar Annotator: match by term: NASODIGITOACOUSTIC SYNDROME	PMID:25741868|PMID:30982611
12108564	GPC4	glypican 4	gene	DOID:1115	sarcoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108564	GPC4	glypican 4	gene	DOID:12849	autistic disorder		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
12108564	GPC4	glypican 4	gene	DOID:2154	nephroblastoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:25741868
12108564	GPC4	glypican 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12108564	GPC4	glypican 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108564	GPC4	glypican 4	gene	DOID:630	genetic disease		ISO	RGD:1347282	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12108564	GPC4	glypican 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12108564	GPC4	glypican 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108564	GPC4	glypican 4	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1347282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:31292255
12108564	GPC4	glypican 4	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12108564	GPC4	glypican 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108611	GASK1A	golgi associated kinase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606802	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108623	LYPD1	LY6/PLAUR domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108623	LYPD1	LY6/PLAUR domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:10534	stomach cancer		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:1909	melanoma		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:5041	esophageal cancer		ISO	RGD:736128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108630	TIMM10B	translocase of inner mitochondrial membrane 10B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108637	GDF2	growth differentiation factor 2	gene	DOID:1270	hereditary hemorrhagic telangiectasia		ISO	RGD:1353215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26801773
12108637	GDF2	growth differentiation factor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1353215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26801773
12108637	GDF2	growth differentiation factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23936038|PMID:28284560
12108637	GDF2	growth differentiation factor 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1353215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868|PMID:28492532
12108637	GDF2	growth differentiation factor 2	gene	DOID:9001906	Hereditary Hemorrhagic Telangiectasia, Type 5		ISO	RGD:1353215	D	RGD:7240710	20180130	OMIM			
12108637	GDF2	growth differentiation factor 2	gene	DOID:9001906	Hereditary Hemorrhagic Telangiectasia, Type 5		ISO	RGD:1353215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GDF2-related condition | ClinVar Annotator: match by term: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5 | ClinVar Annotator: match by term: Telangiectasia, hereditary hemorrhagic, type 5	PMID:23335997|PMID:23972370|PMID:25741868|PMID:26801773|PMID:27081547|PMID:28492532|PMID:29843651|PMID:30476936|PMID:30578383|PMID:30578397|PMID:31661308|PMID:31727138|PMID:32573726|PMID:32618121|PMID:32992168|PMID:33007923|PMID:33066286|PMID:33834622|PMID:34199176|PMID:34611981|PMID:34904380|PMID:35346192|PMID:36891821
12108637	GDF2	growth differentiation factor 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:1353215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27394662
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:0080600	COVID-19		ISO	RGD:1604266	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:7240710	20200930	OMIM			
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:0112138	primary coenzyme Q10 deficiency 9		ISO	RGD:1604266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COQ5-related condition | ClinVar Annotator: match by term: Coenzyme q10 deficiency, primary, 9	PMID:21937992|PMID:25741868|PMID:28492532
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1604266	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108642	COQ5	coenzyme Q5, methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108656	MAG	myelin associated glycoprotein	gene	DOID:0050256	angiostrongyliasis	disease_progression	ISO	RGD:736776	D	RGD:9068941	20200609	RGD			PMID:20399564|REF_RGD_ID:27226693
12108656	MAG	myelin associated glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:28832565|PMID:31402626|PMID:32629324|PMID:34426522
12108656	MAG	myelin associated glycoprotein	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
12108656	MAG	myelin associated glycoprotein	gene	DOID:0110820	hereditary spastic paraplegia 75		ISO	RGD:732303	D	RGD:7240710	20180130	OMIM			
12108656	MAG	myelin associated glycoprotein	gene	DOID:0110820	hereditary spastic paraplegia 75		ISO	RGD:732303	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 75 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 75, autosomal recessive	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28832565|PMID:31227335|PMID:31402626|PMID:32629324|PMID:34426522|PMID:9536098
12108656	MAG	myelin associated glycoprotein	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:17705198|REF_RGD_ID:9685295
12108656	MAG	myelin associated glycoprotein	gene	DOID:12217	Lewy body dementia		ISO	RGD:732303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12108656	MAG	myelin associated glycoprotein	gene	DOID:1324	lung cancer		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108656	MAG	myelin associated glycoprotein	gene	DOID:14330	Parkinson's disease		ISO	RGD:732303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12108656	MAG	myelin associated glycoprotein	gene	DOID:2377	multiple sclerosis		ISO	RGD:732303	D	RGD:9068941	20200609	RGD			PMID:2419505|REF_RGD_ID:9685292
12108656	MAG	myelin associated glycoprotein	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:732303	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532|PMID:28832565|PMID:31402626|PMID:32629324|PMID:34426522
12108656	MAG	myelin associated glycoprotein	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:15678116|REF_RGD_ID:9685232
12108656	MAG	myelin associated glycoprotein	gene	DOID:573	nerve compression syndrome		ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:16764860|REF_RGD_ID:9685296
12108656	MAG	myelin associated glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108656	MAG	myelin associated glycoprotein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108656	MAG	myelin associated glycoprotein	gene	DOID:630	genetic disease		ISO	RGD:732303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12108656	MAG	myelin associated glycoprotein	gene	DOID:9000998	Brain Injuries	susceptibility	ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:17156367|REF_RGD_ID:9685230
12108656	MAG	myelin associated glycoprotein	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:3035	D	RGD:9068941	20200609	RGD			PMID:12730963|REF_RGD_ID:9685301
12108656	MAG	myelin associated glycoprotein	gene	DOID:9006973	Acute Experimental Autoimmune Encephalomyelitis		ISO	RGD:3035	D	RGD:9068941	20200609	RGD		protein:decreased expression:optic nerve	PMID:9820787|REF_RGD_ID:9685300
12108680	FBXO28	F-box protein 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108680	FBXO28	F-box protein 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108680	FBXO28	F-box protein 28	gene	DOID:0060058	lymphoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12108680	FBXO28	F-box protein 28	gene	DOID:0070386	developmental and epileptic encephalopathy 100		ISO	RGD:1312107	D	RGD:7240710	20220316	OMIM			
12108680	FBXO28	F-box protein 28	gene	DOID:0070386	developmental and epileptic encephalopathy 100		ISO	RGD:1312107	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 100	PMID:25356899|PMID:25741868|PMID:33280099
12108680	FBXO28	F-box protein 28	gene	DOID:1826	epilepsy		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12108680	FBXO28	F-box protein 28	gene	DOID:2394	ovarian cancer		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108680	FBXO28	F-box protein 28	gene	DOID:3275	thymoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108680	FBXO28	F-box protein 28	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12108680	FBXO28	F-box protein 28	gene	DOID:4362	cervical cancer		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108680	FBXO28	F-box protein 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1312107	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108680	FBXO28	F-box protein 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108680	FBXO28	F-box protein 28	gene	DOID:630	genetic disease		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12108680	FBXO28	F-box protein 28	gene	DOID:8927	learning disability		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
12108680	FBXO28	F-box protein 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108680	FBXO28	F-box protein 28	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	
12108680	FBXO28	F-box protein 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108680	FBXO28	F-box protein 28	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1312107	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:1324	lung cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:4362	cervical cancer		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108689	MPHOSPH10	M-phase phosphoprotein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1321471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neural tube defect	PMID:25741868
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:10534	stomach cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:10907	microcephaly		ISO	RGD:1321471	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:1115	sarcoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:1324	lung cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:1909	melanoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:3275	thymoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1321471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108710	SCRIB	scribble planar cell polarity protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	
12108751	RNF112	ring finger protein 112	gene	DOID:1115	sarcoma		ISO	RGD:68995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108751	RNF112	ring finger protein 112	gene	DOID:3070	high grade glioma		ISO	RGD:68995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12108751	RNF112	ring finger protein 112	gene	DOID:4362	cervical cancer		ISO	RGD:68995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108751	RNF112	ring finger protein 112	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108751	RNF112	ring finger protein 112	gene	DOID:9003566	Mesothelioma		ISO	RGD:68995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12108776	AKAP17A	A-kinase anchoring protein 17A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108776	AKAP17A	A-kinase anchoring protein 17A	gene	DOID:1115	sarcoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108776	AKAP17A	A-kinase anchoring protein 17A	gene	DOID:5041	esophageal cancer		ISO	RGD:1606031	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108776	AKAP17A	A-kinase anchoring protein 17A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108776	AKAP17A	A-kinase anchoring protein 17A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:1115	sarcoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:1324	lung cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:1909	melanoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:2394	ovarian cancer		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320818	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
12108787	DDX20	DEAD-box helicase 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108787	DDX20	DEAD-box helicase 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:4362	cervical cancer		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1316402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108802	OSBPL11	oxysterol binding protein like 11	gene	DOID:9256	colorectal cancer		ISO	RGD:1316402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12108820	MIR146B	microRNA mir-146b	gene	DOID:3021	acute kidney failure		ISO	RGD:1603775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12108820	MIR146B	microRNA mir-146b	gene	DOID:3393	coronary artery disease		ISO	RGD:1603775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20524934
12108820	MIR146B	microRNA mir-146b	gene	DOID:9000469	Viral Myocarditis	ameliorates	ISO	RGD:1603775	D	RGD:9068941	20210129	RGD		associated with Coxsackievirus Infections	PMID:23588407|REF_RGD_ID:41404640
12108820	MIR146B	microRNA mir-146b	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1603775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12108820	MIR146B	microRNA mir-146b	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1603775	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21789255
12108820	MIR146B	microRNA mir-146b	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2314885	D	RGD:9068941	20230128	RGD		miRNA:increased expression:heart (rat)	PMID:19380620|REF_RGD_ID:155882541
12108820	MIR146B	microRNA mir-146b	gene	DOID:9256	colorectal cancer		ISO	RGD:1603775	D	RGD:9068941	20220728	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12108820	MIR146B	microRNA mir-146b	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603775	D	RGD:9068941	20200609	RGD		RNA:increased expression:arteriole	PMID:29374012|REF_RGD_ID:13702880
12108874	JHY	junctional cadherin complex regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:1115	sarcoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:1324	lung cancer		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:1909	melanoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:3275	thymoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1605626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12108874	JHY	junctional cadherin complex regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:1115	sarcoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1345510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108903	FAM118A	family with sequence similarity 118 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence		ISO	RGD:1309155	D	RGD:9068941	20240229	RGD		associated with stress-related disorder;mRNA:affects expression:ventral tegmental area,cingulate cortex, nucleus accumbens( rat)	PMID:27709495|REF_RGD_ID:401976487
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence		ISO	RGD:1319339	D	RGD:9068941	20240229	RGD			PMID:27527158|REF_RGD_ID:401976484
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		DNA:SNPs:intron,3'utr: (rs1360780, rs3800373)	PMID:27527158|REF_RGD_ID:401976484
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		associated with stress-related disorder;DNA:SNP:: (rs1360780) (human)	PMID:27709495|REF_RGD_ID:401976487
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		mRNA,protein:incrased expression:liver (human)	PMID:33710653|REF_RGD_ID:401976495
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1319339	D	RGD:9068941	20240229	RGD			PMID:33710653|REF_RGD_ID:401976495
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:0080600	COVID-19		ISO	RGD:1319338	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder		ISO	RGD:1319338	D	RGD:7240710	20180130	OMIM			
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder		ISO	RGD:1319338	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:1470	major depressive disorder	susceptibility	ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		associated with Trauma and Stressor Related Disorders; DNA:SNPs,haplotypes:multiple	PMID:20090668|REF_RGD_ID:401976504
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:1319338	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Post-traumatic stress disorder	PMID:18349090
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:2841	asthma		ISO	RGD:1319338	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Asthma	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:289	endometriosis		ISO	RGD:1319338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:3070	high grade glioma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:1319338	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs4713916	PMID:31022961|REF_RGD_ID:628360901
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:3275	thymoma		ISO	RGD:1319338	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1319338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12833524
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:809	cocaine abuse	sexual_dimorphism	ISO	RGD:1309155	D	RGD:9068941	20240229	RGD		mRNA:increased expression:brain (rat)	PMID:31029877|REF_RGD_ID:401976486
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1319338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25115650
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		DNA:SNPs,haplotypes:multiple	PMID:24603855|REF_RGD_ID:401976481
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9003548	Infant, Newborn, Diseases		ISO	RGD:1319338	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25115650
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12108935	FKBP5	FKBP prolyl isomerase 5	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1319338	D	RGD:9068941	20240229	RGD		DNA:SNPs:intron,3'utr: (rs1360780,rs3800373) (human)	PMID:24845178|REF_RGD_ID:401976498
12108961	ANKRD65	ankyrin repeat domain 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:5508531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050451	Brugada syndrome		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20817017|PMID:23861362|PMID:25260352|PMID:25741868|PMID:28492532|PMID:30172029|PMID:30662450|PMID:34163037|PMID:36007726
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050562	West syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:23861362|PMID:25184293|PMID:25741868|PMID:26230511|PMID:26386135|PMID:27502440|PMID:28492532|PMID:29046645|PMID:30345660
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050700	cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050741	alcohol dependence		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		mRNA, protein:increased expression:amygdala, hippocampus (rat)	PMID:27905406|REF_RGD_ID:152985537
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050741	alcohol dependence		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		protein:increased expression:inferior colliculus (human)	PMID:25556199|REF_RGD_ID:152985539
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050793	short QT syndrome		ISO	RGD:8640341	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Short QT syndrome	PMID:20031608|PMID:20817017|PMID:22840528|PMID:23861362|PMID:25447171|PMID:25633834|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:10268	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:7240710	20180130	OMIM			
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:36474027|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20543828|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22020278|PMID:22106044|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26822303|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29568937|PMID:29915097|PMID:30023270|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30513141|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32461654|PMID:32625235|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36007726|PMID:36474027|PMID:37901857|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060173	Timothy syndrome		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CACNA1C-Related Disorder | ClinVar Annotator: match by term: CACNA1C-related disorder | ClinVar Annotator: match by term: LONG QT SYNDROME WITH SYNDACTYLY | ClinVar Annotator: match by term: Long QT syndrome with syndactyly | ClinVar Annotator: match by term: TIMOTHY SYNDROME | ClinVar Annotator: match by term: Timothy syndrome | ClinVar Annotator: match by term: Timothy syndrome type 1	PMID:10343407|PMID:15454078|PMID:15863612|PMID:18250309|PMID:19074970|PMID:20543828|PMID:20817017|PMID:21685391|PMID:22020278|PMID:22106044|PMID:22990809|PMID:23631430|PMID:23861362|PMID:23979604|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25633834|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27231019|PMID:27390944|PMID:27925203|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30662450|PMID:31004778|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33488405|PMID:34163037|PMID:34495297|PMID:35862440|PMID:36007726|PMID:37227348|PMID:38254962
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060249	scoliosis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060305	megalocornea		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:10268	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures		ISO	RGD:10268	D	RGD:7240710	20221214	OMIM			
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0070536	neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | ClinVar Annotator: match by term: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	PMID:25260352|PMID:25741868|PMID:28492532|PMID:32233023|PMID:34163037
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0080454	developmental and epileptic encephalopathy 42		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 42	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110220	Brugada syndrome 3		ISO	RGD:10268	D	RGD:7240710	20180130	OMIM			
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110220	Brugada syndrome 3		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 3 | ClinVar Annotator: match by term: Brugada syndrome 3	PMID:15863612|PMID:17224476|PMID:18250309|PMID:19074970|PMID:20817017|PMID:22385640|PMID:22990809|PMID:23861362|PMID:25500949|PMID:25741868|PMID:26227324|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27925203|PMID:28371864|PMID:28492532|PMID:28600387|PMID:30345660|PMID:32233023|PMID:33488405|PMID:34495297|PMID:37227348
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:10268	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15863612|PMID:21685391|PMID:28492532|PMID:32161207
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110649	long QT syndrome 8		ISO	RGD:10268	D	RGD:7240710	20240228	OMIM			
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:0110649	long QT syndrome 8		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LONG QT SYNDROME 8 | ClinVar Annotator: match by term: Long QT syndrome 8 | ClinVar Annotator: match by term: Long qt syndrome 8	PMID:15863612|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20817017|PMID:21685391|PMID:22990809|PMID:23174487|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:23979604|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25500949|PMID:25691416|PMID:25741868|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26637798|PMID:26822303|PMID:27925203|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29754768|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30530868|PMID:30662450|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31729605|PMID:32161207|PMID:32233023|PMID:33488405|PMID:34163037|PMID:34495297|PMID:35885997|PMID:36007726|PMID:37227348|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1059	intellectual disability		ISO	RGD:10268	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual deficiency | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532|PMID:34163037
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1059	intellectual disability		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual deficiency | ClinVar Annotator: match by term: Intellectual disability	PMID:23861362|PMID:25741868|PMID:26220970|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1550302	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23403102|REF_RGD_ID:13782264
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10763	hypertension		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:10907	microcephaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1115	sarcoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1143	exotropia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:11830	myopia		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:23861362|PMID:25741868|PMID:26220970|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20817017|PMID:22840528|PMID:23861362|PMID:24439875|PMID:25260352|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26498160|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Concentric hypertrophic cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:33797204
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:12849	autistic disorder		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23861362|PMID:25741868|PMID:26220970|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:13508783	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1324	lung cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1470	major depressive disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:1826	epilepsy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532|PMID:33818783
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2030	anxiety disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Post-traumatic stress disorder	PMID:32332995
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23414114|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27662471|PMID:27711072|PMID:27871843|PMID:27920829|PMID:27930701|PMID:28166811|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29568937|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30847666|PMID:31130284|PMID:31408100|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:2547171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26743238|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:33488405|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26076356|PMID:26159999|PMID:26173111|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:25974115|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34999275|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27854218|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34163037|PMID:34222376|PMID:34999275|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28166811|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30027834|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:31805042|PMID:32041989|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:36436328|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31602316|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28427417|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26383259|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36436328|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37901857|PMID:38849547|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27580036|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:12166659|PMID:15358028|PMID:15454078|PMID:15856146|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:19808356|PMID:20031608|PMID:20817017|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22857948|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23396983|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24704860|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27532257|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30297972|PMID:30345660|PMID:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22584458|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24055113|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24690944|PMID:24728418|PMID:24773605|PMID:24981977|PMID:25184293|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25447171|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25650408|PMID:25661095|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26173111|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26386135|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27005929|PMID:27218670|PMID:27231019|PMID:27502440|PMID:27593853|PMID:27662471|PMID:27707468|PMID:27711072|PMID:27868338|PMID:27871843|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28493952|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28750076|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30279520|PMID:30345660|PMID:30369311|PMID:30471092|PMID:30504930|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31335548|PMID:31376648|PMID:31408100|PMID:31430211|PMID:31453089|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32368696|PMID:32461654|PMID:32625235|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:12166659|PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19225208|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22677788|PMID:22840528|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23414114|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24033266|PMID:24183960|PMID:24321233|PMID:24439875|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25333069|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25637381|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26159999|PMID:26220970|PMID:26227324|PMID:26230511|PMID:26253506|PMID:26498160|PMID:26551885|PMID:26637798|PMID:26743238|PMID:26822303|PMID:27231019|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27920829|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28518168|PMID:28600387|PMID:28616568|PMID:28704380|PMID:28878402|PMID:29016939|PMID:29046645|PMID:29071820|PMID:29247119|PMID:29396561|PMID:29568937|PMID:29754768|PMID:29915097|PMID:30025578|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30513141|PMID:30530868|PMID:30662450|PMID:30847666|PMID:30984024|PMID:31004778|PMID:31110529|PMID:31130284|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31729605|PMID:31737537|PMID:32145446|PMID:32161207|PMID:32233023|PMID:32461654|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34222376|PMID:34495297|PMID:34999275|PMID:35205252|PMID:36007726|PMID:36436328|PMID:37227348|PMID:37901857|PMID:38849547|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:15454078|PMID:15863612|PMID:16199547|PMID:16360093|PMID:17224476|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21270786|PMID:21307850|PMID:21685391|PMID:21878566|PMID:21910241|PMID:22581653|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23313911|PMID:23575362|PMID:23578275|PMID:23580742|PMID:23631430|PMID:23677916|PMID:23678275|PMID:23690510|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27593853|PMID:27711072|PMID:27868338|PMID:27925203|PMID:27930701|PMID:27981572|PMID:28211989|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:2843	long QT syndrome		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval | ClinVar Annotator: match by term: long QT syndrome	PMID:15863612|PMID:16199547|PMID:17576681|PMID:18250309|PMID:19061337|PMID:19074970|PMID:19687230|PMID:20031608|PMID:20817017|PMID:21685391|PMID:22677788|PMID:22990809|PMID:23145875|PMID:23174487|PMID:23575362|PMID:23631430|PMID:23677916|PMID:23861362|PMID:23979604|PMID:24321233|PMID:24728418|PMID:24773605|PMID:25260352|PMID:25341504|PMID:25500949|PMID:25633834|PMID:25640679|PMID:25691416|PMID:25741868|PMID:26220970|PMID:26227324|PMID:26253506|PMID:26301350|PMID:26551885|PMID:26637798|PMID:26822303|PMID:27231019|PMID:27711072|PMID:27925203|PMID:27930701|PMID:28341588|PMID:28371864|PMID:28492532|PMID:28600387|PMID:28878402|PMID:29016939|PMID:29247119|PMID:29568937|PMID:29754768|PMID:30025578|PMID:30067485|PMID:30172029|PMID:30345660|PMID:30369311|PMID:30662450|PMID:30847666|PMID:31110529|PMID:31293105|PMID:31408100|PMID:31430211|PMID:31539150|PMID:31737537|PMID:32161207|PMID:32233023|PMID:33191761|PMID:33203140|PMID:33488405|PMID:34079577|PMID:34163037|PMID:34495297|PMID:34999275|PMID:35205252|PMID:35885997|PMID:36007726|PMID:36436328|PMID:37227348|PMID:38849547|PMID:40526200|PMID:9536098
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3275	thymoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3312	bipolar disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711365|PMID:21926972|PMID:21926974|PMID:31043756
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:28492532|PMID:32233023
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:4362	cervical cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:4621	holoprosencephaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5041	esophageal cancer		ISO	RGD:10268	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5723	optic atrophy		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6000	congestive heart failure		ISO	RGD:10268	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6088	acute stress disorder		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:630	genetic disease		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:8488	polyhydramnios		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:10268	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26253506|PMID:28492532|PMID:30025578|PMID:30172029|PMID:31110529|PMID:31408100|PMID:31430211|PMID:32161207
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000096	Lung Agenesis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9000495	Tremor		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intention tremor	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9001581	Constipation		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2245	D	RGD:9068941	20220609	RGD		protein:decreased expression:pancreas (rat)	PMID:20873977|REF_RGD_ID:152985538
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002720	Splenomegaly		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28696432
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:10268	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003132	Sialorrhea		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003137	Photophobia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003163	Heart Block		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9003703	Coxa Valga		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:15863612|PMID:21685391|PMID:28492532|PMID:32161207
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005077	Joint Instability		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532|PMID:29396561
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005466	Language Development Disorders		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:10268	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Sudden cardiac death	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23861362|PMID:25741868|PMID:26220970|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:10268	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:23861362|PMID:25741868|PMID:26220970|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9120	amyloidosis		ISO	RGD:10268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyloidosis	PMID:25741868|PMID:28492532
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:930	orbital disease		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:10268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	
12109004	CACNA1C	calcium voltage-gated channel subunit alpha1 C	gene	DOID:9993	hypoglycemia		ISO	RGD:10268	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15454078
12109074	IL12A	interleukin 12A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20639880
12109074	IL12A	interleukin 12A	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs6441286, rs574808(human)	PMID:19458352|REF_RGD_ID:25440500
12109074	IL12A	interleukin 12A	gene	DOID:12236	primary biliary cholangitis	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		DNA:SNPs:enhancer:rs4679868, rs6441286,  rs666251(human)	PMID:27175695|REF_RGD_ID:25440489
12109074	IL12A	interleukin 12A	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs62270414(human)	PMID:23433321|REF_RGD_ID:25440498
12109074	IL12A	interleukin 12A	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
12109074	IL12A	interleukin 12A	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus;	PMID:30243010|REF_RGD_ID:25440502
12109074	IL12A	interleukin 12A	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		DNA:SNP:3'UTR: rs568408( G>A)(human)	PMID:27819525|REF_RGD_ID:25440490
12109074	IL12A	interleukin 12A	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24076602
12109074	IL12A	interleukin 12A	gene	DOID:2841	asthma		ISO	RGD:732140	D	RGD:9068941	20200609	RGD			PMID:17056578|PMID:17548618|REF_RGD_ID:4373570|REF_RGD_ID:4438438
12109074	IL12A	interleukin 12A	gene	DOID:3070	high grade glioma		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18176109
12109074	IL12A	interleukin 12A	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		DNA:SNP:3'UTR: rs568408( G>A)(human)	PMID:20521253|REF_RGD_ID:25440491
12109074	IL12A	interleukin 12A	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		associated with hepatitis B; DNA:SNP, haplotype:3&#8242;UTR :rs568408(human)	PMID:26631030|REF_RGD_ID:25440501
12109074	IL12A	interleukin 12A	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		associated with hepatitis C;DNA:SNP:3'UTR: rs568408( G>A)(human)	PMID:27819525|REF_RGD_ID:25440490
12109074	IL12A	interleukin 12A	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17332360
12109074	IL12A	interleukin 12A	gene	DOID:9002395	Hypothermia		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16369138
12109074	IL12A	interleukin 12A	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:732140	D	RGD:9068941	20200609	RGD			PMID:12471147|REF_RGD_ID:724447
12109074	IL12A	interleukin 12A	gene	DOID:9003507	Premature Birth		ISO	RGD:1351047	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:23982189
12109074	IL12A	interleukin 12A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
12109074	IL12A	interleukin 12A	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1351047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17326190
12109074	IL12A	interleukin 12A	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1351047	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:26062743|REF_RGD_ID:11097839
12109088	EPHA7	EPH receptor A7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109088	EPHA7	EPH receptor A7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109088	EPHA7	EPH receptor A7	gene	DOID:1059	intellectual disability		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15996548|PMID:25741868
12109088	EPHA7	EPH receptor A7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109088	EPHA7	EPH receptor A7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109088	EPHA7	EPH receptor A7	gene	DOID:3275	thymoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109088	EPHA7	EPH receptor A7	gene	DOID:4362	cervical cancer		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109088	EPHA7	EPH receptor A7	gene	DOID:5041	esophageal cancer		ISO	RGD:732959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109088	EPHA7	EPH receptor A7	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
12109088	EPHA7	EPH receptor A7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109088	EPHA7	EPH receptor A7	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:70957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:16983667|REF_RGD_ID:2301957
12109088	EPHA7	EPH receptor A7	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30357299
12109088	EPHA7	EPH receptor A7	gene	DOID:9008217	Hemorrhage		ISO	RGD:732959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30357299
12109088	EPHA7	EPH receptor A7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109116	THAP1	THAP domain containing 1	gene	DOID:0050835	generalized dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	PMID:25741868
12109116	THAP1	THAP domain containing 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasmodic torticollis	PMID:25741868
12109116	THAP1	THAP domain containing 1	gene	DOID:0050844	spasmodic dystonia		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Laryngeal dystonia	PMID:25741868
12109116	THAP1	THAP domain containing 1	gene	DOID:0070736	multiple mitochondrial dysfunctions syndrome 9B		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 9b	PMID:25741868|PMID:26467025|PMID:28492532
12109116	THAP1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:7240710	20180130	OMIM			
12109116	THAP1	THAP domain containing 1	gene	DOID:0090039	torsion dystonia 6		ISO	RGD:1316870	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 6, TORSION | ClinVar Annotator: match by term: Dystonia 6, torsion | ClinVar Annotator: match by term: Torsion dystonia 6	PMID:17576681|PMID:18073205|PMID:19182804|PMID:19345147|PMID:19763152|PMID:19908320|PMID:20083799|PMID:20144952|PMID:20211909|PMID:20307669|PMID:20669277|PMID:20687193|PMID:20865765|PMID:20925076|PMID:21495072|PMID:21520283|PMID:21752024|PMID:21782490|PMID:21847143|PMID:22377579|PMID:22406018|PMID:22844099|PMID:22903657|PMID:23036512|PMID:23180184|PMID:24500857|PMID:24976531|PMID:25088175|PMID:25741868|PMID:26467025|PMID:26486352|PMID:26506956|PMID:26610312|PMID:26944167|PMID:27123488|PMID:28492532|PMID:28697333|PMID:29520331|PMID:31153764|PMID:31817799|PMID:32112337|PMID:33175450|PMID:33369735|PMID:33949708|PMID:34686877|PMID:35531120|PMID:36854336|PMID:38094642|PMID:9536098
12109116	THAP1	THAP domain containing 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12109116	THAP1	THAP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109116	THAP1	THAP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316870	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109116	THAP1	THAP domain containing 1	gene	DOID:543	dystonia		ISO	RGD:1316870	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:32581362
12109116	THAP1	THAP domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26467025|PMID:28492532
12109116	THAP1	THAP domain containing 1	gene	DOID:9001722	Dysarthria		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12109116	THAP1	THAP domain containing 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12109135	RPS3	ribosomal protein S3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109135	RPS3	ribosomal protein S3	gene	DOID:10534	stomach cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109135	RPS3	ribosomal protein S3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109135	RPS3	ribosomal protein S3	gene	DOID:1324	lung cancer		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109135	RPS3	ribosomal protein S3	gene	DOID:1909	melanoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109135	RPS3	ribosomal protein S3	gene	DOID:5041	esophageal cancer		ISO	RGD:736568	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109135	RPS3	ribosomal protein S3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109135	RPS3	ribosomal protein S3	gene	DOID:9003882	Chromosomal Instability		ISO	RGD:736568	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25341047
12109135	RPS3	ribosomal protein S3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109135	RPS3	ribosomal protein S3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:289	endometriosis		ISO	RGD:1353959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109146	COPS2	COP9 signalosome subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0050160	inhalation anthrax	disease_progression	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:21124994|REF_RGD_ID:5135283
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:28824718|REF_RGD_ID:27095887
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,serum	PMID:25048951|REF_RGD_ID:27095890
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	severity	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:25048951|REF_RGD_ID:27095890
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1550709	D	RGD:9068941	20200618	RGD			PMID:19626487|PMID:19906920|REF_RGD_ID:27095957|REF_RGD_ID:4891446
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19		ISO	RGD:1352024	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:31986264
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1352024	D	RGD:9068941	20230302	RGD			PMID:32427582|REF_RGD_ID:30309200
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0080642	Middle East respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200618	RGD			PMID:30626685|REF_RGD_ID:30309198
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:intestine, liver, lung	PMID:19218194|REF_RGD_ID:5135435
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:26435412|REF_RGD_ID:27095897
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:10247	pleurisy		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14527170|REF_RGD_ID:5135449
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:10459	common cold		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:15764644|REF_RGD_ID:5135489
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:10533	viral pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:17655904|REF_RGD_ID:5135437
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:10608	celiac disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:9288136|REF_RGD_ID:2311389
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:18624292|REF_RGD_ID:5135483
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13141	uveitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16505038|REF_RGD_ID:2311384
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:9834133|REF_RGD_ID:5135492
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:17550373|REF_RGD_ID:5135438
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13580	cholestasis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with  Chronic Hepatitis C; protein:increased expression:serum:	PMID:30507970|REF_RGD_ID:27095896
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13949	interstitial cystitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18957084
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:13949	interstitial cystitis		ISO	RGD:620209	D	RGD:9068941	20240829	RGD		mRNA:increased expression:urinary bladder	PMID:38842512|REF_RGD_ID:407445927
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:14004	thoracic aortic aneurysm	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:16014397|REF_RGD_ID:5135442
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:14095	boutonneuse fever		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14507644|REF_RGD_ID:5135450
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:30381616|REF_RGD_ID:27095891
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1591	renovascular hypertension		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:17062848|REF_RGD_ID:2311383
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18775023|REF_RGD_ID:27095893
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:24668726|REF_RGD_ID:27095945
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:1883	hepatitis C	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:25512630|REF_RGD_ID:27095943
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-201G>A(human)	PMID:18325387|REF_RGD_ID:27095959
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2316	brain ischemia		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2316	brain ischemia		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:17549754|REF_RGD_ID:2311381
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:12097412|REF_RGD_ID:5135451
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:12097412|PMID:16709871|REF_RGD_ID:5135441|REF_RGD_ID:5135451
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2841	asthma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16602032|PMID:17302903|REF_RGD_ID:5135439|REF_RGD_ID:5135457
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2841	asthma		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:11994485|REF_RGD_ID:5135452
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2917	cryoglobulinemia		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with hepatitis C; protein:increased expression:serum	PMID:18775023|REF_RGD_ID:27095893
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17052299|REF_RGD_ID:5135440
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1352024	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15602737|REF_RGD_ID:32716399
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200619	RGD		mRNA, protein: increased expression, altered expression:lung (mouse)	PMID:15356152|REF_RGD_ID:30309221
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1550709	D	RGD:9068941	20200619	RGD		protein:increased expression:lung (mouse)	PMID:20231782|REF_RGD_ID:30309216
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		mRNA, protein:increased expression:plasma, lung (human)	PMID:16195357|REF_RGD_ID:30309218
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		mRNA, protein:increased expression:serum, lung (human)	PMID:15657466|REF_RGD_ID:30309219
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1352024	D	RGD:9068941	20200619	RGD		protein:increased expression:lung (human)	PMID:17129463|REF_RGD_ID:30309217
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1550709	D	RGD:9068941	20200618	RGD		mRNA:increased expression:lung (mouse)	PMID:32365944|REF_RGD_ID:30309207
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1352024	D	RGD:9068941	20200702	RGD			PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1550709	D	RGD:9068941	20200702	RGD			PMID:32553273|REF_RGD_ID:32716426
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:29843631|REF_RGD_ID:27095956
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage	PMID:19816001|REF_RGD_ID:5135305
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19565490|REF_RGD_ID:5135306
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:17925429|REF_RGD_ID:5135436
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:326	ischemia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:16709871|REF_RGD_ID:5135441
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3454	brain infarction		ISO	RGD:620209	D	RGD:9068941	20230216	RGD		protein:increased expression:brain (rat)	PMID:19895873|REF_RGD_ID:2325193
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:10825390|REF_RGD_ID:632989
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:418	systemic scleroderma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:21049277|REF_RGD_ID:5135284
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:418	systemic scleroderma		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21303517|REF_RGD_ID:5135279
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:4247	coronary restenosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:14578618|REF_RGD_ID:1598500
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:437	myasthenia gravis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:15843529|REF_RGD_ID:1598501
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:11418676|REF_RGD_ID:27095892
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:29105936|REF_RGD_ID:27095953
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Chronic Hepatitis B;	PMID:28067328|REF_RGD_ID:27095955
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:27246604|REF_RGD_ID:14995461
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:552	pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:15265940|REF_RGD_ID:5135445
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:552	pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;mRNA:increased expression:lung	PMID:14979941|REF_RGD_ID:5135491
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:576	proteinuria		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16382022|REF_RGD_ID:2311386
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:6713	cerebrovascular disease		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29114965
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:28592115|REF_RGD_ID:27095889
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:27245433|REF_RGD_ID:27095899
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:28638480|REF_RGD_ID:27095898
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352024	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:21811993
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:820	myocarditis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:15322218|REF_RGD_ID:1598502
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA:increased expression:alveolar macrophage	PMID:15725351|REF_RGD_ID:5135490
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:14991597|REF_RGD_ID:5135448
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:874	bacterial pneumonia		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:15618188|REF_RGD_ID:5135459
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:16299319|REF_RGD_ID:5135458
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:17194635|REF_RGD_ID:2311361
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:19170890|REF_RGD_ID:2311365
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9000238	Acute-On-Chronic Liver Failure	susceptibility	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with  liver cirrhosis;	PMID:29105936|REF_RGD_ID:27095953
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9000998	Brain Injuries		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9001488	Human Influenza		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1550709	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:18041715|REF_RGD_ID:27095942
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:19073786|REF_RGD_ID:2311357
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:17425653|REF_RGD_ID:2311359
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21273392|REF_RGD_ID:5683877
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002395	Hypothermia		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16469832|REF_RGD_ID:2311385
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9003617	Carrington Syndrome		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:15956791|REF_RGD_ID:5135443
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:16709871|REF_RGD_ID:5135441
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;protein:increased expression:lung	PMID:19433855|REF_RGD_ID:5135307
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:18589091|REF_RGD_ID:2311376
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:31127759|REF_RGD_ID:27095949
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004283	Transplant Rejection	severity	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:28245475|REF_RGD_ID:27095950
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:23227188|REF_RGD_ID:27095895
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreatic islet	PMID:17372021|REF_RGD_ID:2311360
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1352024	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:23593305|REF_RGD_ID:38508895
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		associated with colon carcinoma;	PMID:30381616|REF_RGD_ID:27095891
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20561238|REF_RGD_ID:5135493
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:12909590|REF_RGD_ID:2311388
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11739529
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression: peripheral blood mononuclear cell,serum, sinusoidal endothelium	PMID:18234638|REF_RGD_ID:27095951
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:30660173|REF_RGD_ID:27095888
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:15843529|PMID:19232748|REF_RGD_ID:1598501|REF_RGD_ID:2311364
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9009049	Foot Ulcer		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19509015|REF_RGD_ID:2311355
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:16239557|REF_RGD_ID:27095947
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD			PMID:19187771|REF_RGD_ID:2311356
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,serum	PMID:25048951|REF_RGD_ID:27095890
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9588	encephalitis		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:18405324|REF_RGD_ID:2311377
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, lymphocyte	PMID:15526056|REF_RGD_ID:4892104
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1352024	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19046227|REF_RGD_ID:2311358
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1550709	D	RGD:9068941	20200609	RGD			PMID:16148094|REF_RGD_ID:2311363
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:620209	D	RGD:9068941	20200609	RGD			PMID:16339582|REF_RGD_ID:2311362
12109165	CXCL10	C-X-C motif chemokine ligand 10	gene	DOID:986	alopecia areata		ISO	RGD:1352024	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22358057
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:0112324	pontocerebellar hypoplasia type 11		ISO	RGD:1601860	D	RGD:7240710	20190315	OMIM			
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:0112324	pontocerebellar hypoplasia type 11		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | ClinVar Annotator: match by term: Pontocerebellar hypoplasia, type 11 | ClinVar Annotator: match by term: TBC1D23-related condition	PMID:25741868|PMID:28823706|PMID:28823707|PMID:34582790
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:10534	stomach cancer		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:1324	lung cancer		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:3275	thymoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1601860	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:630	genetic disease		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109171	TBC1D23	TBC1 domain family member 23	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601860	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346298	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109197	WDSUB1	WD repeat, sterile alpha motif and U-box domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12109216	LANCL1	LanC like glutathione S-transferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69464	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12109229	KIAA1328	KIAA1328	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109229	KIAA1328	KIAA1328	gene	DOID:10534	stomach cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109229	KIAA1328	KIAA1328	gene	DOID:1059	intellectual disability		ISO	RGD:1343837	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12109229	KIAA1328	KIAA1328	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109229	KIAA1328	KIAA1328	gene	DOID:4362	cervical cancer		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109229	KIAA1328	KIAA1328	gene	DOID:5041	esophageal cancer		ISO	RGD:1343837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109229	KIAA1328	KIAA1328	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12109229	KIAA1328	KIAA1328	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109229	KIAA1328	KIAA1328	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109229	KIAA1328	KIAA1328	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109229	KIAA1328	KIAA1328	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:10283	prostate cancer		ISO	RGD:1315867	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:1324	lung cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315867	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109271	SGSM2	small G protein signaling modulator 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1315867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12109322	PI16	peptidase inhibitor 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109322	PI16	peptidase inhibitor 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109322	PI16	peptidase inhibitor 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109322	PI16	peptidase inhibitor 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109322	PI16	peptidase inhibitor 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109322	PI16	peptidase inhibitor 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1115	sarcoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:1324	lung cancer		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5041	esophageal cancer		ISO	RGD:1602712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109336	DNAJC27	DnaJ heat shock protein family (Hsp40) member C27	gene	DOID:9970	obesity		ISO	RGD:1602712	D	RGD:9068941	20260312	RGD		DNA:hypermethylation: :	PMID:34207686|REF_RGD_ID:640476589
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1305463	D	RGD:9068941	20200609	RGD			PMID:18382279|PMID:18498770|REF_RGD_ID:7495845|REF_RGD_ID:7495847
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109355	MAP4K1	mitogen-activated protein kinase kinase kinase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:28492532|PMID:38781976
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:731475	D	RGD:9068941	20231228	RGD		DNA:insertion:promoter:: (human)	PMID:26727527|REF_RGD_ID:11552767
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:620533	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:15976529|REF_RGD_ID:1643202
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:14598306
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060249	scoliosis		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:7240710	20180130	OMIM			
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:19344873|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25741909|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31302675|PMID:31332282|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32398021|PMID:32469098|PMID:32581362|PMID:32660967|PMID:33004838|PMID:33961861|PMID:34006619|PMID:34028503|PMID:34120799|PMID:34489640|PMID:34653234|PMID:35701389|PMID:35761184|PMID:36674476|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:19344873|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25640679|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32398021|PMID:32469098|PMID:32581362|PMID:32660967|PMID:33004838|PMID:33961861|PMID:34006619|PMID:34028503|PMID:34120799|PMID:34489640|PMID:34653234|PMID:35701389|PMID:35761184|PMID:36674476|PMID:36895422|PMID:37502687|PMID:37700749|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Early onset epileptic encephalopathy | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Myoclonic-atonic epilepsy | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:19344873|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25640679|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32398021|PMID:32469098|PMID:32581362|PMID:32660967|PMID:33004838|PMID:33241211|PMID:33961861|PMID:34006619|PMID:34028503|PMID:34120799|PMID:34489640|PMID:34653234|PMID:35701389|PMID:35761184|PMID:36674476|PMID:36895422|PMID:37502687|PMID:37647852|PMID:37700749|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25640679|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32032478|PMID:32398021|PMID:32469098|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33004838|PMID:33057194|PMID:33241211|PMID:33961861|PMID:34006619|PMID:34028503|PMID:34120799|PMID:34489640|PMID:34653234|PMID:35368288|PMID:35701389|PMID:35761184|PMID:35982159|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37502687|PMID:37541188|PMID:37647852|PMID:37700749|PMID:38781976|PMID:39825153|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder | ClinVar Annotator: match by term: Undetermined early-onset epileptic encephalopathy	PMID:16199547|PMID:17576681|PMID:18414213|PMID:22235131|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25640679|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29720203|PMID:29933521|PMID:30132828|PMID:31031587|PMID:31302675|PMID:31332282|PMID:31440721|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32032478|PMID:32398021|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33004838|PMID:33057194|PMID:34006619|PMID:34028503|PMID:34120799|PMID:34283886|PMID:34489640|PMID:34653234|PMID:35368288|PMID:35761184|PMID:35982159|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37502687|PMID:37541188|PMID:37647852|PMID:37662110|PMID:37700749|PMID:38008000|PMID:38781976|PMID:39825153|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: Infantile spasm | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:16199547|PMID:17576681|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:28135719|PMID:28492532|PMID:28856709|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31785789|PMID:31981491|PMID:32581362|PMID:33004838|PMID:33057194|PMID:34006619|PMID:34028503|PMID:35761184|PMID:35982159|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37502687|PMID:37541188|PMID:37647852|PMID:37700749|PMID:38781976|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset | ClinVar Annotator: match by term: Generalized myoclonic-atonic seizure | ClinVar Annotator: match by term: SLC6A1-related condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental condition | ClinVar Annotator: match by term: SLC6A1-related neurodevelopmental disorder	PMID:17576681|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:28135719|PMID:28492532|PMID:28856709|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31785789|PMID:31981491|PMID:33004838|PMID:33057194|PMID:33726816|PMID:34006619|PMID:34028503|PMID:35761184|PMID:35982159|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37647852|PMID:37700749|PMID:38781976|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0060681	autosomal dominant nocturnal frontal lobe epilepsy		ISO	RGD:731475	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant epilepsy	PMID:25865495|PMID:27959697|PMID:28191889|PMID:28492532|PMID:34006619
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0070309	absence epilepsy		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25363768|PMID:25741868|PMID:26716362|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:37457006
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0081325	developmental and epileptic encephalopathy 94		ISO	RGD:731475	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868|PMID:26716362|PMID:28492532|PMID:29315614|PMID:30132828
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1059	intellectual disability		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: severe intellectual disability	PMID:25741868|PMID:28492532|PMID:29315614|PMID:30132828
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:10907	microcephaly		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:26716362|PMID:28492532|PMID:29315614
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:11155	hypohidrosis		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:11782	astigmatism		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:11830	myopia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:11832	visual epilepsy		ISO	RGD:731475	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:11074187
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:11836	clubfoot		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:12849	autistic disorder		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37647852|PMID:38781976
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1596	depressive disorder		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1826	epilepsy		ISO	RGD:731475	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25865495|PMID:26467025|PMID:28492532|PMID:29315614|PMID:31302675|PMID:32581362|PMID:37502687
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1826	epilepsy		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27824329|PMID:28492532|PMID:29315614|PMID:29720203|PMID:30132828|PMID:31302675|PMID:31332282|PMID:31440721|PMID:31981491|PMID:34006619|PMID:34028503|PMID:34283886|PMID:35761184|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37647852|PMID:37662110|PMID:38008000|PMID:38781976
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1826	epilepsy		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1826	epilepsy		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26716362|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:32581362|PMID:33726816|PMID:34028503|PMID:36674476|PMID:36895422|PMID:37457006|PMID:37502687|PMID:37541188|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:1969	cerebral palsy		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:2030	anxiety disorder		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:2234	focal epilepsy		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:27541642|PMID:28492532|PMID:36674476
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:2316	brain ischemia		ISO	RGD:620533	D	RGD:9068941	20200609	RGD			PMID:15084665|REF_RGD_ID:1643209
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:2468	psychotic disorder		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:37457006
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3144	cutis laxa		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25363768|PMID:25741868|PMID:27824329|PMID:28492532|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:37457006
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3312	bipolar disorder		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731475	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20132478
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:620533	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:15248296|REF_RGD_ID:1643206
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:731475	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:15248296|REF_RGD_ID:1643206
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:731476	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:15248296|REF_RGD_ID:1643206
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:3526	cerebral infarction		ISO	RGD:620533	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex, neuron	PMID:15349978|REF_RGD_ID:1643205
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:480	movement disease		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:540	strabismus		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:5419	schizophrenia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:543	dystonia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:630	genetic disease		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26467025|PMID:27541642|PMID:28135719|PMID:28492532|PMID:29315614|PMID:31440721|PMID:31785789|PMID:33004838|PMID:33057194|PMID:34006619|PMID:34028503|PMID:35761184|PMID:35982159|PMID:36674476|PMID:36895422|PMID:37647852|PMID:37700749|PMID:38781976|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:8927	learning disability		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9000641	Pain		ISO	RGD:731476	D	RGD:9068941	20200609	RGD			PMID:17918738|REF_RGD_ID:1643217
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9000727	Syncope		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532|PMID:38781976
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9003126	Hallucinations		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9003507	Premature Birth		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9004012	Nervous System Lead Poisoning, Adult		ISO	RGD:620533	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, synaptosome	PMID:15149801|REF_RGD_ID:1643208
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731475	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:27541642|PMID:28492532|PMID:36674476
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9004866	Ataxia		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26716362|PMID:28492532|PMID:29315614
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25865495|PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731475	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Myoclonic-astatic epilepsy | ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:14744863|PMID:15496410|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344873|PMID:22495306|PMID:24859339|PMID:25363768|PMID:25741868|PMID:25865495|PMID:26467025|PMID:26716362|PMID:27541642|PMID:27824329|PMID:27959697|PMID:28135719|PMID:28191889|PMID:28213519|PMID:28492532|PMID:28708303|PMID:28856709|PMID:29315614|PMID:29358611|PMID:29933521|PMID:29961511|PMID:30132828|PMID:30525188|PMID:31031587|PMID:31176687|PMID:31273778|PMID:31302675|PMID:31332282|PMID:31401500|PMID:31780880|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32581362|PMID:32660967|PMID:32913952|PMID:33004838|PMID:33961861|PMID:34006619|PMID:34489640|PMID:9536098
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized myoclonic seizures	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:26716362|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852|PMID:38781976
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731475	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:25865495|PMID:28135719|PMID:28492532|PMID:31785789|PMID:33004838|PMID:33057194|PMID:34006619|PMID:34028503|PMID:35761184|PMID:35982159|PMID:36895422|PMID:37700749
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:731475	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25865495|PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9007722	Myoclonus		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eyelid myoclonus	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9007736	Vertigo		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:25865495|PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25363768|PMID:25741868|PMID:26716362|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:34028503|PMID:36674476|PMID:37457006
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25363768|PMID:25741868|PMID:26716362|PMID:27824329|PMID:28492532|PMID:29315614|PMID:30132828|PMID:31332282|PMID:31981491|PMID:33726816|PMID:34028503|PMID:36674476|PMID:37457006
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:936	brain disease		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:22495306|PMID:24859339|PMID:25741868|PMID:25865495|PMID:28492532|PMID:29315614|PMID:36895422|PMID:37647852
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:963	episodic ataxia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:25741868
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9834	hyperopia		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25865495|PMID:28492532
12109391	SLC6A1	solute carrier family 6 member 1	gene	DOID:9970	obesity		ISO	RGD:731475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12109412	GPC1	glypican 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730930	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109412	GPC1	glypican 1	gene	DOID:1115	sarcoma		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109412	GPC1	glypican 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109412	GPC1	glypican 1	gene	DOID:3070	high grade glioma		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12109412	GPC1	glypican 1	gene	DOID:5041	esophageal cancer		ISO	RGD:730930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109412	GPC1	glypican 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109412	GPC1	glypican 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730930	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12109412	GPC1	glypican 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109412	GPC1	glypican 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 33 | ClinVar Annotator: match by term: ZFYVE27-related condition	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:10534	stomach cancer		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:1115	sarcoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:1324	lung cancer		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:1909	melanoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:3275	thymoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:4362	cervical cancer		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:6039	uveal melanoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:607	paraplegia		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16199547|PMID:16826525|PMID:17576681|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9536098
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109426	ZFYVE27	zinc finger FYVE-type containing 27	gene	DOID:9256	colorectal cancer		ISO	RGD:1352080	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:16826525|PMID:18606302|PMID:24668814|PMID:25741868|PMID:28492532
12109444	SHTN1	shootin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109444	SHTN1	shootin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109444	SHTN1	shootin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109444	SHTN1	shootin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109444	SHTN1	shootin 1	gene	DOID:1324	lung cancer		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109444	SHTN1	shootin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109444	SHTN1	shootin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109444	SHTN1	shootin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109472	CCNYL1	cyclin Y like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109472	CCNYL1	cyclin Y like 1	gene	DOID:3275	thymoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109472	CCNYL1	cyclin Y like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109472	CCNYL1	cyclin Y like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109472	CCNYL1	cyclin Y like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:1324	lung cancer		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621242	D	RGD:9068941	20200609	RGD			PMID:16630594|REF_RGD_ID:9681747
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:3275	thymoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346398	D	RGD:9068941	20200609	RGD		mRNA:increased expression:synovium	PMID:11801682|REF_RGD_ID:10043106
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1550099	D	RGD:9068941	20200609	RGD		associated with Bone Diseases, Metabolic	PMID:22432033|REF_RGD_ID:10043110
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:90	degenerative disc disease		ISO	RGD:621242	D	RGD:9068941	20200609	RGD			PMID:22394620|REF_RGD_ID:10043115
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109492	ADAMTS4	ADAM metallopeptidase with thrombospondin type 1 motif 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:0060270	pontocerebellar hypoplasia type 2D		ISO	RGD:1606287	D	RGD:7240710	20180130	OMIM			
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:0060270	pontocerebellar hypoplasia type 2D		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2D | ClinVar Annotator: match by term: Pontocerebellar hypoplasia type 2d | ClinVar Annotator: match by term: SEPSECS-related condition	PMID:12920088|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20920667|PMID:23052947|PMID:23275319|PMID:24305467|PMID:25044680|PMID:25558065|PMID:25590979|PMID:25741868|PMID:25880436|PMID:26115735|PMID:26633542|PMID:26805434|PMID:26888482|PMID:27175728|PMID:27473727|PMID:27576344|PMID:28492532|PMID:29095814|PMID:29464431|PMID:29709707|PMID:31130284|PMID:31589614|PMID:31607746|PMID:31748115|PMID:32214227|PMID:32555262|PMID:33600046|PMID:33624863|PMID:34234304|PMID:34445196|PMID:35012964|PMID:35091508|PMID:35155316|PMID:35637137|PMID:36085396|PMID:39825153|PMID:9536098
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	PMID:25741868
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:10534	stomach cancer		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:1115	sarcoma		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:1324	lung cancer		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1606287	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:630	genetic disease		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:9004657	Weight Gain		ISO	RGD:1606287	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:9004866	Ataxia		ISO	RGD:1606287	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	
12109505	SEPSECS	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:61809	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:12210101|REF_RGD_ID:6218972
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:1115	sarcoma		ISO	RGD:732295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:3275	thymoma		ISO	RGD:732295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109534	GFRA2	GDNF family receptor alpha 2	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:61809	D	RGD:9068941	20200609	RGD			PMID:15144875|REF_RGD_ID:6218970
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:10283	prostate cancer		ISO	RGD:68478	D	RGD:9068941	20200609	RGD			PMID:26677064|REF_RGD_ID:11561757
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:68478	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33604570|PMID:33818783|PMID:37486637
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:68478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:33818783
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1596	depressive disorder		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:68478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16357568|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33604570|PMID:33818783|PMID:37486637
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:68478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:33818783
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:1909	melanoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:2030	anxiety disorder		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:219	colon cancer		ISO	RGD:68478	D	RGD:9068941	20200609	RGD			PMID:18663744|REF_RGD_ID:13432043
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:2234	focal epilepsy		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:33818783
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:2841	asthma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:3498	pancreatic ductal adenocarcinoma	severity	ISO	RGD:68478	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:15591514|REF_RGD_ID:14390084
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:630	genetic disease		ISO	RGD:68478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:39434542
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:68341	D	RGD:9068941	20220520	RGD			PMID:25999787|REF_RGD_ID:152177911
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68478	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9002403	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome		ISO	RGD:68478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALY, POLYMICROGYRIA, MEGA CORPUS CALLOSUM SYNDROME | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33818783|PMID:9536098
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:68479	D	RGD:9068941	20200609	RGD			PMID:22733740|REF_RGD_ID:13432042
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9003507	Premature Birth		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:33818783
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9004356	Smith-Kingsmore Syndrome		ISO	RGD:68478	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Overgrowth syndrome	PMID:25741868
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9005077	Joint Instability		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:68478	D	RGD:7240710	20190327	OMIM			
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:68478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 | ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | ClinVar Annotator: match by term: PIK3R2-related condition	PMID:16357568|PMID:17576681|PMID:21984976|PMID:22729224|PMID:24497998|PMID:25741868|PMID:26520804|PMID:26860062|PMID:27854409|PMID:28086757|PMID:28492532|PMID:28502725|PMID:33604570|PMID:33818783|PMID:34170046|PMID:37486637|PMID:9536098
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9538	multiple myeloma		ISO	RGD:68478	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12109547	PIK3R2	phosphoinositide-3-kinase regulatory subunit 2	gene	DOID:9970	obesity		ISO	RGD:68478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aicardi Goutieres syndrome	PMID:17846997|PMID:21177854|PMID:24183309|PMID:25604658|PMID:25741868|PMID:28492532|PMID:28739201|PMID:30315573|PMID:32404165
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:10907	microcephaly		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16845400|PMID:19015152|PMID:21177854
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:1909	melanoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:2975	cystic kidney disease		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: kidney cyst	PMID:16845400|PMID:17846997|PMID:19015152|PMID:19034401|PMID:20131292|PMID:21177854|PMID:23322642|PMID:25604658|PMID:25741868|PMID:28492532|PMID:29150899|PMID:29239743|PMID:31529068|PMID:34302356
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:3275	thymoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:630	genetic disease		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9008004	Aicardi-Goutieres Syndrome 3		ISO	RGD:1604574	D	RGD:7240710	20180130	OMIM			
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9008004	Aicardi-Goutieres Syndrome 3		ISO	RGD:1604574	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition	PMID:16199547|PMID:17576681|PMID:17846997|PMID:20131292|PMID:21177854|PMID:24183309|PMID:25500883|PMID:25604658|PMID:25741868|PMID:26467025|PMID:27943079|PMID:28492532|PMID:28739201|PMID:29389947|PMID:30315573|PMID:31130681|PMID:32404165|PMID:33353557|PMID:34008892|PMID:34055681|PMID:35551623|PMID:36585007|PMID:36836134|PMID:37092250|PMID:38381212|PMID:38976295|PMID:9536098
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134|PMID:9536098
12109568	RNASEH2C	ribonuclease H2 subunit C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25500883|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33353557|PMID:36836134
12109589	CLEC12B	C-type lectin domain family 12 member B	gene	DOID:0080600	COVID-19		ISO	RGD:1605796	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12109602	PIANP	PILR alpha associated neural protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109602	PIANP	PILR alpha associated neural protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312691	D	RGD:9068941	20220825	MouseDO			
12109602	PIANP	PILR alpha associated neural protein	gene	DOID:1324	lung cancer		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109602	PIANP	PILR alpha associated neural protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109602	PIANP	PILR alpha associated neural protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606434	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:10534	stomach cancer		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:1115	sarcoma		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:13580	cholestasis		ISO	RGD:737240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20626112
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:5041	esophageal cancer		ISO	RGD:737240	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109610	MAPK13	mitogen-activated protein kinase 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737240	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109636	ZNF74	zinc finger protein 74	gene	DOID:1115	sarcoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109636	ZNF74	zinc finger protein 74	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109636	ZNF74	zinc finger protein 74	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109636	ZNF74	zinc finger protein 74	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109652	IGSF6	immunoglobulin superfamily member 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1343123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12109652	IGSF6	immunoglobulin superfamily member 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:11465	autonomic nervous system disease		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)	PMID:18376350|REF_RGD_ID:2312592
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Obesity; protein:increased expression:plasma (human)	PMID:19375579|REF_RGD_ID:2312588
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:1459	hypothyroidism		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:9030821|REF_RGD_ID:2312549
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:2018	hyperinsulinism		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:8059006|REF_RGD_ID:2312550
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:26	pancreas disease		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:3892654|REF_RGD_ID:2312553
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:4195	hyperglycemia		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)	PMID:19174495|REF_RGD_ID:2312590
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9001109	Anorexia		ISO	RGD:1353884	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28633506|PMID:28666375|PMID:29689362
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9005587	Starvation		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:duodenum, jejunum (rat)	PMID:6140913|REF_RGD_ID:2312554
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina (rat)	PMID:12789546|REF_RGD_ID:2312548
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD			PMID:19473824|REF_RGD_ID:2312587
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		disease in rat treated with human protein	PMID:19126188|REF_RGD_ID:2312591
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1552008	D	RGD:9068941	20200609	RGD			PMID:18937625|REF_RGD_ID:2312589
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2709	D	RGD:9068941	20200609	RGD			PMID:19056762|REF_RGD_ID:2312529
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD			PMID:3546047|REF_RGD_ID:2312551
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:1353884	D	RGD:9068941	20200609	RGD		associated with Polycystic Ovary Syndrome; protein:increased expression:plasma (human)	PMID:19375579|REF_RGD_ID:2312588
12109674	GIP	gastric inhibitory polypeptide	gene	DOID:9970	obesity		ISO	RGD:2709	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:18063845|REF_RGD_ID:2312547
12109684	MIR181A-1	microRNA mir-181a-1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1351132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20643829
12109684	MIR181A-1	microRNA mir-181a-1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1351132	D	RGD:9068941	20220825	RGD		miRNA:increased expression:esophagus (human)	PMID:29906417|REF_RGD_ID:153344526
12109687	MIR127	microRNA mir-127	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12109687	MIR127	microRNA mir-127	gene	DOID:1324	lung cancer		ISO	RGD:1608343	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12109687	MIR127	microRNA mir-127	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344992	D	RGD:9068941	20220616	RGD		RNA:decreased expression:esophagus (human)	PMID:27645894|REF_RGD_ID:152995354
12109687	MIR127	microRNA mir-127	gene	DOID:3910	lung adenocarcinoma	treatment	ISO	RGD:1344992	D	RGD:9068941	20220616	RGD		Human cells in mouse model	PMID:27869168|REF_RGD_ID:152995353
12109687	MIR127	microRNA mir-127	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12109687	MIR127	microRNA mir-127	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344992	D	RGD:9068941	20220616	RGD		miRNA:decreased expression:liver (human)	PMID:24854842|REF_RGD_ID:152995355
12109687	MIR127	microRNA mir-127	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12109687	MIR127	microRNA mir-127	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12109687	MIR127	microRNA mir-127	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20099276
12109687	MIR127	microRNA mir-127	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1344992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:0111061	familial hypobetalipoproteinemia 2		ISO	RGD:1346260	D	RGD:7240710	20180130	OMIM			
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346260	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1557682	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:15094378|REF_RGD_ID:2314234
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1557682	D	RGD:9068941	20200609	RGD			PMID:12672813|REF_RGD_ID:1578347
12109691	ANGPTL3	angiopoietin like 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1557682	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:15094378|REF_RGD_ID:2314234
12109736	FTCDNL1	formiminotransferase cyclodeaminase N-terminal like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:7245836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:1115	sarcoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:1909	melanoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:2843	long QT syndrome		ISO	RGD:731444	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:731444	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109750	AKAP8	A-kinase anchoring protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109766	BBOX1	gamma-butyrobetaine hydroxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109766	BBOX1	gamma-butyrobetaine hydroxylase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732171	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:1115	sarcoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:1324	lung cancer		ISO	RGD:1320609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:3275	thymoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109781	RPE	ribulose-5-phosphate-3-epimerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109797	FYB1	FYN binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1603714	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12109797	FYB1	FYN binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603714	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109797	FYB1	FYN binding protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:7240710	20190315	OMIM			
12109797	FYB1	FYN binding protein 1	gene	DOID:9002574	Thrombocytopenia 3		ISO	RGD:1603714	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FYB1-related condition | ClinVar Annotator: match by term: THROMBOCYTOPENIA 3 | ClinVar Annotator: match by term: Thrombocytopenia 3	PMID:25741868|PMID:28748566
12109797	FYB1	FYN binding protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12109797	FYB1	FYN binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109797	FYB1	FYN binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109797	FYB1	FYN binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603714	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:0050734	congenital intrinsic factor deficiency		ISO	RGD:735662	D	RGD:7240710	20180130	OMIM			
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:0050734	congenital intrinsic factor deficiency		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital intrinsic factor deficiency | ClinVar Annotator: match by term: Hereditary intrinsic factor deficiency | ClinVar Annotator: match by term: INTRINSIC FACTOR DEFICIENCY | ClinVar Annotator: match by term: Intrinsic factor deficiency	PMID:14576042|PMID:15738392|PMID:16199547|PMID:17576681|PMID:18620679|PMID:19036097|PMID:20408840|PMID:22854512|PMID:22929189|PMID:24033266|PMID:25308559|PMID:25640679|PMID:25741868|PMID:27577878|PMID:28492532|PMID:9536098
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:10808	gastric ulcer		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		associated with Polycythemia; mRNA:decreased expression:gastric mucosa:	PMID:26485402|REF_RGD_ID:11049581
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:13381	pernicious anemia		ISO	RGD:735662	D	RGD:9068941	20200609	RGD			PMID:167441|PMID:4434116|REF_RGD_ID:11049584|REF_RGD_ID:11049587
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:13382	megaloblastic anemia		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:14576042|PMID:19036097|PMID:22854512|PMID:22929189|PMID:25741868|PMID:28492532
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:4029	gastritis		ISO	RGD:62084	D	RGD:9068941	20200609	RGD			PMID:1097299|REF_RGD_ID:11049585
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:5419	schizophrenia		ISO	RGD:735662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735662	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, missense mutations, splice sites:exon,intron:	PMID:15738392|REF_RGD_ID:11049583
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:735662	D	RGD:9068941	20200609	RGD		protein:increased excretion:urine:	PMID:10435666|REF_RGD_ID:11049586
12109856	CBLIF	cobalamin binding intrinsic factor	gene	DOID:9007661	Dwarfism		ISO	RGD:735662	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:14576042|PMID:19036097|PMID:22854512|PMID:22929189|PMID:25741868|PMID:28492532
12109869	NFIB	nuclear factor I B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109869	NFIB	nuclear factor I B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733820	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12109869	NFIB	nuclear factor I B	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12109869	NFIB	nuclear factor I B	gene	DOID:0060249	scoliosis		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12109869	NFIB	nuclear factor I B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:733820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12109869	NFIB	nuclear factor I B	gene	DOID:10534	stomach cancer		ISO	RGD:733820	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109869	NFIB	nuclear factor I B	gene	DOID:1059	intellectual disability		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:1115	sarcoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109869	NFIB	nuclear factor I B	gene	DOID:12849	autistic disorder		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12109869	NFIB	nuclear factor I B	gene	DOID:1324	lung cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109869	NFIB	nuclear factor I B	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	
12109869	NFIB	nuclear factor I B	gene	DOID:3275	thymoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109869	NFIB	nuclear factor I B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12109869	NFIB	nuclear factor I B	gene	DOID:4362	cervical cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109869	NFIB	nuclear factor I B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12109869	NFIB	nuclear factor I B	gene	DOID:5041	esophageal cancer		ISO	RGD:733820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109869	NFIB	nuclear factor I B	gene	DOID:5419	schizophrenia		ISO	RGD:733820	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12109869	NFIB	nuclear factor I B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109869	NFIB	nuclear factor I B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109869	NFIB	nuclear factor I B	gene	DOID:630	genetic disease		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12109869	NFIB	nuclear factor I B	gene	DOID:9001510	Funnel Chest		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12109869	NFIB	nuclear factor I B	gene	DOID:9002787	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT		ISO	RGD:733820	D	RGD:7240710	20201216	OMIM			
12109869	NFIB	nuclear factor I B	gene	DOID:9002787	MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION | ClinVar Annotator: match by term: Macrocephaly, acquired, with impaired intellectual development | ClinVar Annotator: match by term: NFIB-related condition	PMID:25741868|PMID:28492532|PMID:30388402|PMID:36756855
12109869	NFIB	nuclear factor I B	gene	DOID:9003539	Hyperacusis		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12109869	NFIB	nuclear factor I B	gene	DOID:9003816	Macrocephaly		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:30388402|PMID:32902921|PMID:33130023
12109869	NFIB	nuclear factor I B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733820	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Syndromic complex neurodevelopmental disorder	PMID:25741868
12109869	NFIB	nuclear factor I B	gene	DOID:9004538	Hearing Loss		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
12109869	NFIB	nuclear factor I B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12109869	NFIB	nuclear factor I B	gene	DOID:9005616	Micrognathism		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:733820	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:30388402
12109869	NFIB	nuclear factor I B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:0111258	pentosuria		ISO	RGD:733826	D	RGD:7240710	20180130	OMIM			
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:0111258	pentosuria		ISO	RGD:733826	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PENTOSURIA	PMID:25741868
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:10534	stomach cancer		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:1324	lung cancer		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:3275	thymoma		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:4362	cervical cancer		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:733826	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109905	DCXR	dicarbonyl and L-xylulose reductase	gene	DOID:9970	obesity		ISO	RGD:733826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:1909	melanoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:3275	thymoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109916	PUM3	pumilio RNA binding family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1318702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:9002189	High Myopia		ISO	RGD:1347627	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109938	ATAT1	alpha tubulin acetyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:736450	D	RGD:9068941	20200609	RGD			PMID:24264604|REF_RGD_ID:11352253
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0060901	lymphoplasmacytic lymphoma	disease_progression	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:21564078|REF_RGD_ID:11040774
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0060901	lymphoplasmacytic lymphoma	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:15659493|REF_RGD_ID:11352262
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0080162	lupus nephritis	susceptibility	ISO	RGD:736450	D	RGD:9068941	20241114	RGD		DNA:SNP:cds:p.V158F (human)	PMID:17596285|REF_RGD_ID:5508454
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p. V158F(rs396991)(human)	PMID:20400988|REF_RGD_ID:11040884
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0111941	immunodeficiency 20		ISO	RGD:736450	D	RGD:7240710	20180130	OMIM			
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:0111941	immunodeficiency 20		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	PMID:25741868
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1037	lymphoid leukemia	no_association	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F158V (rs396991) (human)	PMID:15217834|REF_RGD_ID:11344968
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:10534	stomach cancer		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:10608	celiac disease		ISO	RGD:736450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:10952	nephritis		ISO	RGD:1550776	D	RGD:9068941	20200609	RGD			PMID:16520389|REF_RGD_ID:5508402
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1115	sarcoma		ISO	RGD:736450	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1205	allergic disease	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Purpura, Thrombocytopenic, Idiopathic	PMID:22025730|REF_RGD_ID:11352264
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	PMID:19026120|REF_RGD_ID:5508432
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:13375	temporal arteritis		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:16846526|REF_RGD_ID:5147974
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1389	polyneuropathy	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Monoclonal Gammopathy of Undetermined Significance;DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:24487381|REF_RGD_ID:11352254
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1587	thrombocytopenia due to platelet alloimmunization	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:	PMID:22775462|REF_RGD_ID:11040770
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:1826	epilepsy	susceptibility	ISO	RGD:736450	D	RGD:9068941	20241114	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)	PMID:17596285|REF_RGD_ID:5508454
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:2377	multiple sclerosis	disease_progression	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		protein:increased expression:gamma-delta T cell	PMID:18155780|REF_RGD_ID:5508375
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:2841	asthma	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	PMID:18199088|REF_RGD_ID:5508449
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:2921	glomerulonephritis		ISO	RGD:1550776	D	RGD:9068941	20200609	RGD			PMID:19050295|REF_RGD_ID:5508439
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F176V(human)	PMID:16221721|REF_RGD_ID:5508463
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	PMID:15910853|REF_RGD_ID:5508464
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:4362	cervical cancer		ISO	RGD:736450	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	PMID:18199088|REF_RGD_ID:5508449
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:cnv: :	PMID:19946017|REF_RGD_ID:5508400
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:4780	anti-basement membrane glomerulonephritis	no_association	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:(rs396991)(human)	PMID:19640933|REF_RGD_ID:5508403
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	PMID:21187939|REF_RGD_ID:5508390
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:552	pneumonia	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Hodgkin Disease;DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:20423913|REF_RGD_ID:11352258
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:614	lymphopenia	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP:cds:p.V158F (human)	PMID:17596285|REF_RGD_ID:5508454
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:633	myositis	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991)(human)	PMID:19493236|REF_RGD_ID:5508428
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:7147	ankylosing spondylitis	severity	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		protein:decreased expression:polymorphonuclear leucocyte	PMID:8453794|REF_RGD_ID:5508388
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:CNVs	PMID:25154742|REF_RGD_ID:11344974
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		protein:decreased expression:NK cell	PMID:15334114|REF_RGD_ID:5508467
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.F158V(rs396991)(human)	PMID:19019892|REF_RGD_ID:5508391
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:848	arthritis		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:F158V (rs396991)(human)	PMID:19005160|REF_RGD_ID:5508443
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:848	arthritis	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome; DNA:SNP:exon:p.F158V (rs396991)(human)	PMID:19026120|REF_RGD_ID:5508432
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:14987319|REF_RGD_ID:1304543
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.V158F(human)	PMID:11380443|REF_RGD_ID:11040776
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:8924	autoimmune thrombocytopenic purpura	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:22123287|REF_RGD_ID:11040989
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:1332447	D	RGD:9068941	20200609	RGD			PMID:15479722|REF_RGD_ID:11344926
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:8924	autoimmune thrombocytopenic purpura	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:23484707|REF_RGD_ID:11352255
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	no_association	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.F158V (rs396991) (human)	PMID:14563637|REF_RGD_ID:11352260
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Lymphoma, Large B-Cell, Diffuse;DNA:SNP: :rs396991 (human)	PMID:27282998|REF_RGD_ID:11344967
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Lymphoma, B-Cell;DNA:polymorphism: :p.V158F (human)	PMID:20730791|REF_RGD_ID:11352256
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Lymphoma, Large B-Cell, Diffuse;DNA:polymorphism: :p.V158F (human)	PMID:21883784|REF_RGD_ID:11344964
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9004486	Drug-induced Neutropenia		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		associated with Non-Hodgkin lymphoma;DNA:polymorphism: :p.V158F (human)	PMID:19933905|REF_RGD_ID:11344973
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9004792	Familial Mixed Cryoglobulinemia	treatment	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V176F (human)	PMID:21538321|REF_RGD_ID:11344956
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9005125	Lupus Vasculitis, Central Nervous System		ISO	RGD:736450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26773105
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9008208	Heparin-induced Thrombocytopenia	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.V158F(human)	PMID:15191947|REF_RGD_ID:11040991
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9008765	Malarial Anemia	severity	ISO	RGD:736450	D	RGD:9068941	20200609	RGD			PMID:20231419|REF_RGD_ID:11040771
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9008765	Malarial Anemia	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.F176V (human)	PMID:23045477|REF_RGD_ID:11344971
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9009008	Temporomandibular Joint Dysfunction Syndrome		ISO	RGD:1303067	D	RGD:9068941	20200609	RGD			PMID:20589683|REF_RGD_ID:5508377
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:CNVs	PMID:25154742|REF_RGD_ID:11344974
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:736450	D	RGD:9068941	20200609	RGD		protein:decreased expression:NK cell	PMID:21370226|REF_RGD_ID:5508389
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:736450	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs403016,rs428888(human)	PMID:18625651|REF_RGD_ID:5508444
12109973	LOC478984	low affinity immunoglobulin gamma Fc region receptor III	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:1115	sarcoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1605635	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12109990	DNAI4	dynein axonemal intermediate chain 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320626	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320626	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110011	HOOK1	hook microtubule tethering protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320626	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110037	PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:0080600	COVID-19		ISO	RGD:1322394	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12110037	PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9000520	Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial		ISO	RGD:1322394	D	RGD:7240710	20190306	OMIM			
12110037	PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12110037	PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9002669	Hypoxia		ISO	RGD:1322394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
12110037	PCK2	phosphoenolpyruvate carboxykinase 2, mitochondrial	gene	DOID:9005930	Endotoxemia		ISO	RGD:1311112	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression,decreased activity:liver:	PMID:19268478|REF_RGD_ID:10427879
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:0050675	Birk-Barel syndrome		ISO	RGD:734260	D	RGD:7240710	20180130	OMIM			
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:0050675	Birk-Barel syndrome		ISO	RGD:734260	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BIRK-BAREL SYNDROME | ClinVar Annotator: match by term: Birk-Barel syndrome | ClinVar Annotator: match by term: KCNK9-related condition | ClinVar Annotator: match by term: Mental retardation with hypotonia and facial dysmorphism	PMID:18678320|PMID:25741868|PMID:27151206|PMID:28492532|PMID:35698242
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734260	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:10534	stomach cancer		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:10907	microcephaly		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:11836	clubfoot		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:12849	autistic disorder		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:1324	lung cancer		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:734260	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15781965
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:1909	melanoma		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:630	genetic disease		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10734076
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:674	cleft palate		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9001031	Retrognathia		ISO	RGD:734260	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25326635|PMID:25741868|PMID:29165669
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9002997	Glossoptosis		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734260	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9005616	Micrognathism		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9008582	Developmental Disease		ISO	RGD:734260	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12110050	KCNK9	potassium two pore domain channel subfamily K member 9	gene	DOID:9009021	Plagiocephaly		ISO	RGD:734260	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12110056	SLC39A2	solute carrier family 39 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1314826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:11193	syndactyly		ISO	RGD:1604143	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110069	RAB19	RAB19, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0050840	cervical dystonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25363768|PMID:25741868|PMID:28191889|PMID:30504930
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0060249	scoliosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0060321	umbilical hernia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:7240710	20190315	OMIM			
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0080232	autosomal dominant intellectual developmental disorder 51		ISO	RGD:1348608	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 51 | ClinVar Annotator: match by term: KMT5B-related condition | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29276005
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:0080833	laryngomalacia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:10534	stomach cancer		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1059	intellectual disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:10907	microcephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:11111	hydronephrosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:12849	autistic disorder		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25363768|PMID:25741868|PMID:27854360|PMID:28191889
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1657	ventricular septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1826	epilepsy		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:1923	disorder of sexual development		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:2340	craniosynostosis		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:2841	asthma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348608	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:540	strabismus		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:5419	schizophrenia		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:630	genetic disease		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:8927	learning disability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9000727	Syncope		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9001581	Constipation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9003133	Hypertelorism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9003816	Macrocephaly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly | ClinVar Annotator: match by term: Megalencephaly	PMID:25363768|PMID:27854360|PMID:28191889
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9005077	Joint Instability		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1348608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Language retardation	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9007661	Dwarfism		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9007817	Macroglossia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348608	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9008957	Urachal Cyst		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urachal cyst	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
12110103	KMT5B	lysine methyltransferase 5B	gene	DOID:9840	esotropia		ISO	RGD:1348608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:10534	stomach cancer		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:1909	melanoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:3275	thymoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:4362	cervical cancer		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1322072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12110124	DPP8	dipeptidyl peptidase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110157	SNX33	sorting nexin 33	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110157	SNX33	sorting nexin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110157	SNX33	sorting nexin 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110163	TIGIT	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:3275	thymoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110163	TIGIT	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110163	TIGIT	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110163	TIGIT	T cell immunoreceptor with Ig and ITIM domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:10534	stomach cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:1324	lung cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:2394	ovarian cancer		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:5041	esophageal cancer		ISO	RGD:1344171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1557521	D	RGD:9068941	20201008	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12110176	LOC488622	myeloid cell nuclear differentiation antigen	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:10534	stomach cancer		ISO	RGD:1352896	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:1115	sarcoma		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110212	LOC488951	zinc finger protein 37A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1606522	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	PMID:30167849
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:1059	intellectual disability		ISO	RGD:1606522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:1324	lung cancer		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:1909	melanoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:3275	thymoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110229	GRAMD1B	GRAM domain containing 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110271	AXIN1	axin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110271	AXIN1	axin 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:736564	D	RGD:9068941	20211217	RGD		mRNA:increased expression:oral epithelium (human)	PMID:21393552|REF_RGD_ID:150530486
12110271	AXIN1	axin 1	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		protein:decreased expression:oral epithelium (human)	PMID:17143481|REF_RGD_ID:150530474
12110271	AXIN1	axin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110271	AXIN1	axin 1	gene	DOID:10534	stomach cancer		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110271	AXIN1	axin 1	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		DNA:SNPs:5'utr: (rs12921862, rs1805105, rs370681) (human)	PMID:31143301|REF_RGD_ID:150527861
12110271	AXIN1	axin 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		DNA:hypermethylation	PMID:23192643|REF_RGD_ID:150527862
12110271	AXIN1	axin 1	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		protein:decreased expression:lung (human)	PMID:21496867|REF_RGD_ID:150530293
12110271	AXIN1	axin 1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		human cells in mouse model	PMID:23915259|PMID:32051824|REF_RGD_ID:150530274|REF_RGD_ID:150530284
12110271	AXIN1	axin 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12110271	AXIN1	axin 1	gene	DOID:1909	melanoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110271	AXIN1	axin 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:620859	D	RGD:9068941	20211210	RGD			PMID:28032729|REF_RGD_ID:150530464
12110271	AXIN1	axin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110271	AXIN1	axin 1	gene	DOID:3275	thymoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110271	AXIN1	axin 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		protein:decreased expression:esophagus (human)	PMID:12771989|REF_RGD_ID:150530473
12110271	AXIN1	axin 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		protein:decreased expression:lung (human)	PMID:19735876|REF_RGD_ID:150530290
12110271	AXIN1	axin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110271	AXIN1	axin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736564	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110271	AXIN1	axin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:736564	D	RGD:9068941	20211217	RGD		protein:decreased expression:liver (human)	PMID:31514071|REF_RGD_ID:150530482
12110271	AXIN1	axin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12110271	AXIN1	axin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110271	AXIN1	axin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736564	D	RGD:7240710	20180130	OMIM			
12110271	AXIN1	axin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736564	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AXIN1-related condition | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12110271	AXIN1	axin 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211210	RGD		associated with Hepatitis B, Chronic,DNA:SNP, haplotype:exon:(rs1805105) T>C (human)	PMID:26968103|REF_RGD_ID:14402039
12110271	AXIN1	axin 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736564	D	RGD:9068941	20211217	RGD		protein:decreased expression:liver (human)	PMID:31514071|REF_RGD_ID:150530482
12110271	AXIN1	axin 1	gene	DOID:9002004	Caudal Duplication Anomaly		ISO	RGD:736564	D	RGD:7240710	20180130	OMIM			
12110271	AXIN1	axin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110271	AXIN1	axin 1	gene	DOID:9007954	CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA		ISO	RGD:736564	D	RGD:7240710	20240124	OMIM			
12110271	AXIN1	axin 1	gene	DOID:9007954	CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA		ISO	RGD:736564	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA | ClinVar Annotator: match by term: Craniometadiaphyseal osteosclerosis with hip dysplasia	PMID:25741868
12110271	AXIN1	axin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110287	GATA6	GATA binding protein 6	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:735650	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12110287	GATA6	GATA binding protein 6	gene	DOID:0050758	metabolic acidosis		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:0050861	colorectal adenocarcinoma	severity	ISO	RGD:735650	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:24452072|REF_RGD_ID:13208874
12110287	GATA6	GATA binding protein 6	gene	DOID:0050877	pancreatic agenesis		ISO	RGD:735650	D	RGD:9068941	20241102	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158542
12110287	GATA6	GATA binding protein 6	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:735650	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Midaortic syndrome	PMID:29483232
12110287	GATA6	GATA binding protein 6	gene	DOID:0080216	duodenal atresia		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duodenal atresia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:0110114	atrial heart septal defect 9		ISO	RGD:735650	D	RGD:7240710	20180130	OMIM			
12110287	GATA6	GATA binding protein 6	gene	DOID:0110114	atrial heart septal defect 9		ISO	RGD:735650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 9	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:0111733	pancreatic hypoplasia-diabetes-congenital heart disease syndrome		ISO	RGD:735650	D	RGD:7240710	20180130	OMIM			
12110287	GATA6	GATA binding protein 6	gene	DOID:0111733	pancreatic hypoplasia-diabetes-congenital heart disease syndrome		ISO	RGD:735650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES | ClinVar Annotator: match by term: Pancreatic agenesis and congenital heart defects | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	PMID:19666519|PMID:20581743|PMID:22158542|PMID:23223019|PMID:24385578|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31006513|PMID:31271559|PMID:33054971
12110287	GATA6	GATA binding protein 6	gene	DOID:0112135	severe congenital neutropenia 8		ISO	RGD:735650	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant	PMID:25741868
12110287	GATA6	GATA binding protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12110287	GATA6	GATA binding protein 6	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:28492532
12110287	GATA6	GATA binding protein 6	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:24385578
12110287	GATA6	GATA binding protein 6	gene	DOID:1588	thrombocytopenia		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:1657	ventricular septal defect		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:24385578|PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:1682	congenital heart disease		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malformation of the heart and great vessels	PMID:24385578
12110287	GATA6	GATA binding protein 6	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:3021	acute kidney failure		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agenesis of hemidiaphragm | ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:24385578
12110287	GATA6	GATA binding protein 6	gene	DOID:4195	hyperglycemia		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:4927	Klatskin's tumor	sexual_dimorphism	ISO	RGD:735650	D	RGD:9068941	20210430	RGD		DNA:mutations	PMID:33387086|REF_RGD_ID:126848756
12110287	GATA6	GATA binding protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12110287	GATA6	GATA binding protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110287	GATA6	GATA binding protein 6	gene	DOID:630	genetic disease		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:735650	D	RGD:7240710	20180130	OMIM			
12110287	GATA6	GATA binding protein 6	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532|PMID:29389947|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:2666	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:19842842|REF_RGD_ID:2314194
12110287	GATA6	GATA binding protein 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735650	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, arteriole, venule (human)	PMID:23583651|REF_RGD_ID:13208869
12110287	GATA6	GATA binding protein 6	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735651	D	RGD:9068941	20200609	RGD			PMID:23583651|REF_RGD_ID:13208869
12110287	GATA6	GATA binding protein 6	gene	DOID:674	cleft palate		ISO	RGD:735651	D	RGD:9068941	20200609	RGD		protein:decreased expression:secondary palatal shelf (mouse)	PMID:27391658|REF_RGD_ID:13208933
12110287	GATA6	GATA binding protein 6	gene	DOID:83	cataract		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early-onset anterior polar cataract	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	PMID:24385578
12110287	GATA6	GATA binding protein 6	gene	DOID:9003397	Atrioventricular Septal Defect 5		ISO	RGD:735650	D	RGD:7240710	20180130	OMIM			
12110287	GATA6	GATA binding protein 6	gene	DOID:9003397	Atrioventricular Septal Defect 5		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ATRIOVENTRICULAR SEPTAL DEFECT 5 | ClinVar Annotator: match by term: Atrioventricular septal defect 5	PMID:16199547|PMID:17576681|PMID:19666519|PMID:20581743|PMID:22158542|PMID:22498567|PMID:22750565|PMID:23223019|PMID:24310933|PMID:25706805|PMID:25741868|PMID:27185633|PMID:27756709|PMID:28381408|PMID:28492532|PMID:28991257|PMID:29101065|PMID:31264968|PMID:31271559|PMID:34493817|PMID:36525927|PMID:9536098
12110287	GATA6	GATA binding protein 6	gene	DOID:9003752	Persistent Truncus Arteriosus		ISO	RGD:735650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PERSISTENT TRUNCUS ARTERIOSUS	
12110287	GATA6	GATA binding protein 6	gene	DOID:9004872	Congenital Infantile Lactic Acidosis		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital lactic acidosis	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735650	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16271038
12110287	GATA6	GATA binding protein 6	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735650	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31190750
12110287	GATA6	GATA binding protein 6	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiogenic shock	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110287	GATA6	GATA binding protein 6	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:735650	D	RGD:7240710	20180530	OMIM			
12110287	GATA6	GATA binding protein 6	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	PMID:19666519|PMID:25741868|PMID:28492532|PMID:29101065|PMID:31301121
12110287	GATA6	GATA binding protein 6	gene	DOID:9007661	Dwarfism		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9008217	Hemorrhage		ISO	RGD:735650	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31190750
12110287	GATA6	GATA binding protein 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110287	GATA6	GATA binding protein 6	gene	DOID:9009050	Hypocalcemia		ISO	RGD:735650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:28492532|PMID:34493817|PMID:36525927
12110287	GATA6	GATA binding protein 6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:735650	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18280291
12110287	GATA6	GATA binding protein 6	gene	DOID:9206	Barrett's esophagus	disease_progression	ISO	RGD:735650	D	RGD:9068941	20200609	RGD		protein:increased expression: esophagus squamous epithelium (human)	PMID:25445407|REF_RGD_ID:13208870
12110287	GATA6	GATA binding protein 6	gene	DOID:9351	diabetes mellitus		ISO	RGD:735650	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:22158542|PMID:23223019|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559
12110287	GATA6	GATA binding protein 6	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735650	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus	PMID:22158542|PMID:23223019|PMID:25706805|PMID:25741868|PMID:28492532|PMID:31271559
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315058	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110299	SH3YL1	SH3 and SYLF domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:1115	sarcoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:1588	thrombocytopenia		ISO	RGD:1319386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:3070	high grade glioma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:4362	cervical cancer		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:5041	esophageal cancer		ISO	RGD:1319386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:9003390	Thrombocytopenia 2		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia 2	PMID:25741868
12110318	MASTL	microtubule associated serine/threonine kinase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:1909	melanoma		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344006	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110338	PADI1	peptidyl arginine deiminase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110358	CENPM	centromere protein M	gene	DOID:1324	lung cancer		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110358	CENPM	centromere protein M	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110358	CENPM	centromere protein M	gene	DOID:4362	cervical cancer		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110358	CENPM	centromere protein M	gene	DOID:5041	esophageal cancer		ISO	RGD:1316428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110358	CENPM	centromere protein M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110358	CENPM	centromere protein M	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316428	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12110358	CENPM	centromere protein M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:10534	stomach cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:10603	glucose intolerance		ISO	RGD:1559884	D	RGD:9068941	20200609	RGD		associated with obesity;	PMID:27523322|REF_RGD_ID:11532750
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:1324	lung cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344870	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25261935
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:4362	cervical cancer		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1559884	D	RGD:9068941	20200609	RGD		associated with obesity;	PMID:27523322|REF_RGD_ID:11532750
12110373	PLEKHS1	pleckstrin homology domain containing S1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344870	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1318232	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110397	TMX1	thioredoxin related transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316854	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110410	NUMBL	NUMB like endocytic adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110432	TNNI1	troponin I1, slow skeletal type	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110432	TNNI1	troponin I1, slow skeletal type	gene	DOID:1909	melanoma		ISO	RGD:732918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110432	TNNI1	troponin I1, slow skeletal type	gene	DOID:3275	thymoma		ISO	RGD:732918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110432	TNNI1	troponin I1, slow skeletal type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:0112313	brain small vessel disease		ISO	RGD:731848	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter, exon:rs939347, rs2071570, rs12941497 (human)	PMID:23083441|REF_RGD_ID:10448981
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:10534	stomach cancer		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:628827	D	RGD:9068941	20200609	RGD		associated with Cholestasis	PMID:24497272|REF_RGD_ID:10448995
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:1115	sarcoma		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:1324	lung cancer		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:13580	cholestasis		ISO	RGD:736119	D	RGD:9068941	20200609	RGD			PMID:24497272|REF_RGD_ID:10448995
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:731848	D	RGD:9068941	20200609	RGD			PMID:24497272|REF_RGD_ID:10448995
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:628827	D	RGD:9068941	20200609	RGD			PMID:1315530|REF_RGD_ID:10448989
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:1909	melanoma		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:628827	D	RGD:9068941	20200609	RGD			PMID:1315530|REF_RGD_ID:10448989
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:736119	D	RGD:9068941	20200609	RGD			PMID:24497272|REF_RGD_ID:10448995
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:628827	D	RGD:9068941	20200609	RGD			PMID:23637135|REF_RGD_ID:10448992
12110453	NR1D1	nuclear receptor subfamily 1 group D member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:731848	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27664470
12110465	POU3F1	POU class 3 homeobox 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
12110470	MIR370	microRNA mir-370	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1343857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12110470	MIR370	microRNA mir-370	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12110470	MIR370	microRNA mir-370	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1343857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12110470	MIR370	microRNA mir-370	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12110470	MIR370	microRNA mir-370	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1343857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12110550	SUSD3	sushi domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1322117	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110550	SUSD3	sushi domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110550	SUSD3	sushi domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110550	SUSD3	sushi domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110568	LOC106559800	developmental pluripotency-associated protein 2-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110568	LOC106559800	developmental pluripotency-associated protein 2-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110568	LOC106559800	developmental pluripotency-associated protein 2-like	gene	DOID:1909	melanoma		ISO	RGD:1348790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110568	LOC106559800	developmental pluripotency-associated protein 2-like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1348790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12110580	SKOR2	SKI family transcriptional corepressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3160638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110580	SKOR2	SKI family transcriptional corepressor 2	gene	DOID:0070721	Valence-Farazi cerebellar ataxia syndrome		ISO	RGD:3160638	D	RGD:7240710	20260603	OMIM			
12110580	SKOR2	SKI family transcriptional corepressor 2	gene	DOID:0070721	Valence-Farazi cerebellar ataxia syndrome		ISO	RGD:3160638	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: VALENCE-FARAZI CEREBELLAR ATAXIA SYNDROME	
12110580	SKOR2	SKI family transcriptional corepressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:3160638	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110580	SKOR2	SKI family transcriptional corepressor 2	gene	DOID:9001722	Dysarthria		ISO	RGD:3160638	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Dysarthria	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:10534	stomach cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1607003	D	RGD:9068941	20250904	CTD		CTD Direct Evidence: marker/mechanism	PMID:38154557
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:3070	high grade glioma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:4362	cervical cancer		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110594	ZXDC	ZXD family zinc finger C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110608	SNAPC2	small nuclear RNA activating complex polypeptide 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110657	SSTR2	somatostatin receptor 2	gene	DOID:0050773	paraganglioma		ISO	RGD:1346941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29163802
12110657	SSTR2	somatostatin receptor 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1346941	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:16771832
12110657	SSTR2	somatostatin receptor 2	gene	DOID:169	neuroendocrine tumor		ISO	RGD:1346941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
12110657	SSTR2	somatostatin receptor 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1346941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15259086|PMID:17625444|PMID:19917848
12110657	SSTR2	somatostatin receptor 2	gene	DOID:1824	status epilepticus		ISO	RGD:1346941	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18951627
12110657	SSTR2	somatostatin receptor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:3763	D	RGD:9068941	20200609	RGD			PMID:11879809|REF_RGD_ID:2325002
12110657	SSTR2	somatostatin receptor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3763	D	RGD:9068941	20200609	RGD			PMID:7956902|REF_RGD_ID:2325008
12110676	ATG12	autophagy related 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1306306	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
12110676	ATG12	autophagy related 12	gene	DOID:10534	stomach cancer		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110676	ATG12	autophagy related 12	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:6039	uveal melanoma		ISO	RGD:1314851	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12110676	ATG12	autophagy related 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
12110676	ATG12	autophagy related 12	gene	DOID:9000998	Brain Injuries		ISO	RGD:1306306	D	RGD:9068941	20200609	RGD		protein:altered localization:brain	PMID:18059433|REF_RGD_ID:2301217
12110676	ATG12	autophagy related 12	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12110676	ATG12	autophagy related 12	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12110676	ATG12	autophagy related 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110688	SAXO1	stabilizer of axonemal microtubules 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110688	SAXO1	stabilizer of axonemal microtubules 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110688	SAXO1	stabilizer of axonemal microtubules 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110702	MAPRE3	microtubule associated protein RP/EB family member 3	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343455	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12110702	MAPRE3	microtubule associated protein RP/EB family member 3	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1343455	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12110702	MAPRE3	microtubule associated protein RP/EB family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313402	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:11476	osteoporosis		ISO	RGD:1313402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12110719	RSU1	Ras suppressor protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:9001341	Chloracne		ISO	RGD:1313402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12110719	RSU1	Ras suppressor protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110719	RSU1	Ras suppressor protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12110735	MGA	MAX dimerization protein MGA	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1351170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413735
12110735	MGA	MAX dimerization protein MGA	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:1351170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
12110735	MGA	MAX dimerization protein MGA	gene	DOID:10534	stomach cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:1115	sarcoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23039309|PMID:34236315|PMID:35101336
12110735	MGA	MAX dimerization protein MGA	gene	DOID:1909	melanoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:3275	thymoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:4362	cervical cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:5041	esophageal cancer		ISO	RGD:1351170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1351170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9009279	Premature Ovarian Failure 26		ISO	RGD:1351170	D	RGD:7240710	20250122	OMIM			
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9009279	Premature Ovarian Failure 26		ISO	RGD:1351170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 26	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9256	colorectal cancer		ISO	RGD:1351170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	
12110735	MGA	MAX dimerization protein MGA	gene	DOID:9538	multiple myeloma		ISO	RGD:1351170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12110781	ZNF131	zinc finger protein 131	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110781	ZNF131	zinc finger protein 131	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12110781	ZNF131	zinc finger protein 131	gene	DOID:5041	esophageal cancer		ISO	RGD:1353025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110781	ZNF131	zinc finger protein 131	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110802	RAI14	retinoic acid induced 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:10534	stomach cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110802	RAI14	retinoic acid induced 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110802	RAI14	retinoic acid induced 14	gene	DOID:1115	sarcoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:1324	lung cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110802	RAI14	retinoic acid induced 14	gene	DOID:1909	melanoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:3275	thymoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:4362	cervical cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110802	RAI14	retinoic acid induced 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110802	RAI14	retinoic acid induced 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1314269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110802	RAI14	retinoic acid induced 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110802	RAI14	retinoic acid induced 14	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12110802	RAI14	retinoic acid induced 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110802	RAI14	retinoic acid induced 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110833	TEKT5	tektin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110833	TEKT5	tektin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110833	TEKT5	tektin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110833	TEKT5	tektin 5	gene	DOID:3070	high grade glioma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12110833	TEKT5	tektin 5	gene	DOID:5419	schizophrenia		ISO	RGD:1605283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12110833	TEKT5	tektin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110833	TEKT5	tektin 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12110833	TEKT5	tektin 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110833	TEKT5	tektin 5	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12110833	TEKT5	tektin 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1605283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12110844	GLOD5	glyoxalase domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110844	GLOD5	glyoxalase domain containing 5	gene	DOID:1324	lung cancer		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110844	GLOD5	glyoxalase domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110857	TNMD	tenomodulin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110857	TNMD	tenomodulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110868	HINT2	histidine triad nucleotide binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110868	HINT2	histidine triad nucleotide binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110880	TSPAN32	tetraspanin 32	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110880	TSPAN32	tetraspanin 32	gene	DOID:1115	sarcoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110880	TSPAN32	tetraspanin 32	gene	DOID:1909	melanoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12110880	TSPAN32	tetraspanin 32	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110880	TSPAN32	tetraspanin 32	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1607064	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Sengers syndrome	PMID:25741868
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:1115	sarcoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:1324	lung cancer		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:3275	thymoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:5041	esophageal cancer		ISO	RGD:1607064	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn errors of metabolism	PMID:25741868
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:7240710	20211103	OMIM			
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9001881	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Triokinase and FMN cyclase deficiency syndrome	PMID:25741868
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1607064	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12110898	TKFC	triokinase and FMN cyclase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12110938	KYNU	kynureninase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110938	KYNU	kynureninase	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:0080204	renal hypoplasia		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28792876
12110938	KYNU	kynureninase	gene	DOID:0081122	Catel Manzke syndrome		ISO	RGD:734173	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Catel-Manzke syndrome	PMID:25741868|PMID:31923704|PMID:33942433
12110938	KYNU	kynureninase	gene	DOID:0112257	hydroxykynureninuria		ISO	RGD:734173	D	RGD:7240710	20180130	OMIM			
12110938	KYNU	kynureninase	gene	DOID:0112257	hydroxykynureninuria		ISO	RGD:734173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydroxykynureninuria | ClinVar Annotator: match by term: KYNU-related condition	PMID:25741868|PMID:28492532|PMID:31923704
12110938	KYNU	kynureninase	gene	DOID:10534	stomach cancer		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12110938	KYNU	kynureninase	gene	DOID:10763	hypertension		ISO	RGD:71061	D	RGD:9068941	20200609	RGD			PMID:11924719|REF_RGD_ID:631322
12110938	KYNU	kynureninase	gene	DOID:10907	microcephaly		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12110938	KYNU	kynureninase	gene	DOID:11836	clubfoot		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28792876
12110938	KYNU	kynureninase	gene	DOID:1289	neurodegenerative disease		ISO	RGD:734173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
12110938	KYNU	kynureninase	gene	DOID:1324	lung cancer		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12110938	KYNU	kynureninase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868|PMID:28792876
12110938	KYNU	kynureninase	gene	DOID:1459	hypothyroidism		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28792876
12110938	KYNU	kynureninase	gene	DOID:1657	ventricular septal defect		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12110938	KYNU	kynureninase	gene	DOID:2340	craniosynostosis		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12110938	KYNU	kynureninase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12110938	KYNU	kynureninase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12110938	KYNU	kynureninase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110938	KYNU	kynureninase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12110938	KYNU	kynureninase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12110938	KYNU	kynureninase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9003412	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2		ISO	RGD:734173	D	RGD:7240710	20190315	OMIM			
12110938	KYNU	kynureninase	gene	DOID:9003412	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2		ISO	RGD:734173	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL NAD DEFICIENCY DISORDER 2 | ClinVar Annotator: match by term: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 2 | ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 2	PMID:17334708|PMID:25741868|PMID:28492532|PMID:28792876|PMID:31923704|PMID:33942433|PMID:34200361
12110938	KYNU	kynureninase	gene	DOID:9004538	Hearing Loss		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9004866	Ataxia		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9005372	Inflammation		ISO	RGD:734173	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365156
12110938	KYNU	kynureninase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9005616	Micrognathism		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12110938	KYNU	kynureninase	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:734173	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:28792876
12110966	OTOG	otogelin	gene	DOID:0050486	exanthem		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:23122587|PMID:25741868|PMID:28492532
12110966	OTOG	otogelin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1315323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	
12110966	OTOG	otogelin	gene	DOID:0050737	autosomal recessive disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive disease	PMID:25741868|PMID:28492532
12110966	OTOG	otogelin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12110966	OTOG	otogelin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1315323	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12110966	OTOG	otogelin	gene	DOID:0110474	autosomal recessive nonsyndromic deafness 18B		ISO	RGD:1315323	D	RGD:7240710	20180130	OMIM			
12110966	OTOG	otogelin	gene	DOID:0110474	autosomal recessive nonsyndromic deafness 18B		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18B | ClinVar Annotator: match by term: Deafness, autosomal recessive 18b | ClinVar Annotator: match by term: OTOG-related condition | ClinVar Annotator: match by term: autosomal recessive deafness 18B	PMID:10655058|PMID:16199547|PMID:17576681|PMID:23122587|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28050010|PMID:28492532|PMID:29196752|PMID:31152317|PMID:31645975|PMID:31827275|PMID:38519595|PMID:9536098
12110966	OTOG	otogelin	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome	PMID:25741868|PMID:28492532
12110966	OTOG	otogelin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24033266|PMID:25741868
12110966	OTOG	otogelin	gene	DOID:1059	intellectual disability		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
12110966	OTOG	otogelin	gene	DOID:10754	otitis media		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:1324	lung cancer		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:1826	epilepsy		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
12110966	OTOG	otogelin	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:4362	cervical cancer		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12110966	OTOG	otogelin	gene	DOID:543	dystonia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12110966	OTOG	otogelin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:24033266|PMID:28492532
12110966	OTOG	otogelin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9001733	Tinnitus		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28945198
12110966	OTOG	otogelin	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9002554	Tachycardia		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
12110966	OTOG	otogelin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:30303587|PMID:30311386|PMID:32048449
12110966	OTOG	otogelin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:30311386|PMID:32048449|PMID:33105617|PMID:34515852|PMID:35682719
12110966	OTOG	otogelin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9006380	Bilateral Hearing Loss		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral hearing loss	PMID:24033266|PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9007736	Vertigo		ISO	RGD:1315323	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
12110966	OTOG	otogelin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10655058|PMID:23122587|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29907799|PMID:33105617|PMID:34515852|PMID:35682719
12110966	OTOG	otogelin	gene	DOID:9008681	Deafness		ISO	RGD:1315323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
12110966	OTOG	otogelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:737324	D	RGD:9068941	20200609	RGD			PMID:27012733|REF_RGD_ID:13674178
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28634229
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28634229
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111025	CAMKK2	calcium/calmodulin dependent protein kinase kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4		ISO	RGD:1346644	D	RGD:7240710	20190315	OMIM			
12111053	HELLS	helicase, lymphoid specific	gene	DOID:0090011	immunodeficiency-centromeric instability-facial anomalies syndrome 4		ISO	RGD:1346644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HELLS-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 | ClinVar Annotator: match by term: Immunodeficiency-centromeric instability-facial anomalies syndrome 4 | ClinVar Annotator: match by term: immunodeficiency-centromeric instability-facial anomalies syndrome 4	PMID:25741868|PMID:26216346|PMID:28492532
12111053	HELLS	helicase, lymphoid specific	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1346644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12111053	HELLS	helicase, lymphoid specific	gene	DOID:1909	melanoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:3070	high grade glioma	severity	ISO	RGD:1346644	D	RGD:9068941	20200609	RGD			PMID:28042322|REF_RGD_ID:13702468
12111053	HELLS	helicase, lymphoid specific	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1346644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12111053	HELLS	helicase, lymphoid specific	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:5041	esophageal cancer		ISO	RGD:1346644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:630	genetic disease		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12111053	HELLS	helicase, lymphoid specific	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12111053	HELLS	helicase, lymphoid specific	gene	DOID:9002644	Premature Aging		ISO	RGD:1616865	D	RGD:9068941	20200609	RGD			PMID:15105378|REF_RGD_ID:10402190
12111053	HELLS	helicase, lymphoid specific	gene	DOID:9003566	Mesothelioma		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12111053	HELLS	helicase, lymphoid specific	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1346644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12111053	HELLS	helicase, lymphoid specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111086	CDK5R2	cyclin dependent kinase 5 regulatory subunit 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1349470	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12111096	CHKB	choline kinase beta	gene	DOID:0110632	megaconial type congenital muscular dystrophy		ISO	RGD:1604071	D	RGD:7240710	20180130	OMIM			
12111096	CHKB	choline kinase beta	gene	DOID:0110632	megaconial type congenital muscular dystrophy		ISO	RGD:1604071	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy	PMID:21665002|PMID:28492532
12111096	CHKB	choline kinase beta	gene	DOID:1059	intellectual disability		ISO	RGD:1604071	D	RGD:9068941	20250724	RGD		DNA:nonsense mutations, missense mutations, deletion:multiple	PMID:21665002|REF_RGD_ID:6483361
12111096	CHKB	choline kinase beta	gene	DOID:8619	recurrent hypersomnia	susceptibility	ISO	RGD:1604071	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs5770917 (human)	PMID:19404393|REF_RGD_ID:6483442
12111096	CHKB	choline kinase beta	gene	DOID:8986	narcolepsy		ISO	RGD:1604071	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18820697
12111096	CHKB	choline kinase beta	gene	DOID:8986	narcolepsy	susceptibility	ISO	RGD:1604071	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:3' utr:c.*257A>G (rs5770917) (human)	PMID:18820697|REF_RGD_ID:6483443
12111096	CHKB	choline kinase beta	gene	DOID:9884	muscular dystrophy		ISO	RGD:1604071	D	RGD:9068941	20250724	RGD		DNA:nonsense mutations, missense mutations, deletion:multiple	PMID:21665002|REF_RGD_ID:6483361
12111111	FANCC	FA complementation group C	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:735813	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
12111111	FANCC	FA complementation group C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111111	FANCC	FA complementation group C	gene	DOID:0080822	aspirin-induced respiratory disease		ISO	RGD:735813	D	RGD:9068941	20200609	RGD		DNA:haplotype::rs4647416(human)	PMID:21670957|REF_RGD_ID:11045795
12111111	FANCC	FA complementation group C	gene	DOID:0111087	Fanconi anemia complementation group C		ISO	RGD:735813	D	RGD:7240710	20180130	OMIM			
12111111	FANCC	FA complementation group C	gene	DOID:0111087	Fanconi anemia complementation group C		ISO	RGD:735813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCC-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP C | ClinVar Annotator: match by term: Fanconi anemia complementation group C | ClinVar Annotator: match by term: Fanconi anemia, complementation group C | ClinVar Annotator: match by term: Fanconi anemia, group C	PMID:08103176|PMID:08844212|PMID:09452030|PMID:11110674|PMID:11520787|PMID:12670332|PMID:16199547|PMID:1641028|PMID:17576681|PMID:17909071|PMID:17924555|PMID:20301575|PMID:20507306|PMID:20869034|PMID:22701786|PMID:22778927|PMID:23028338|PMID:23613520|PMID:24584348|PMID:25168418|PMID:25741868|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:27133164|PMID:27577878|PMID:28125075|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:29439820|PMID:29625052|PMID:29767408|PMID:29922827|PMID:30676620|PMID:31044565|PMID:31300551|PMID:31589614|PMID:32885271|PMID:33083949|PMID:33471991|PMID:34761457|PMID:34958143|PMID:35264596|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8844212|PMID:9207444|PMID:9452030|PMID:9536098
12111111	FANCC	FA complementation group C	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:25741868|PMID:28492532
12111111	FANCC	FA complementation group C	gene	DOID:10534	stomach cancer		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111111	FANCC	FA complementation group C	gene	DOID:12450	pancytopenia		ISO	RGD:10566	D	RGD:9068941	20200609	RGD		Low dose of mitomycin C 0.3mg/kg	PMID:9531583|REF_RGD_ID:11045793
12111111	FANCC	FA complementation group C	gene	DOID:12450	pancytopenia		ISO	RGD:735813	D	RGD:9068941	20200609	RGD			PMID:10627482|REF_RGD_ID:11045794
12111111	FANCC	FA complementation group C	gene	DOID:1324	lung cancer		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32566746|PMID:32659497|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31784482|PMID:31874108|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34106356|PMID:34117267|PMID:35264596|PMID:36315513|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:24773018|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36969007|PMID:37216690|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:24773018|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37216690|PMID:37349538|PMID:37865086|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:10994546|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:23934222|PMID:24033266|PMID:24390348|PMID:24469828|PMID:24584348|PMID:24728327|PMID:24773018|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28762789|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37216690|PMID:37349538|PMID:37865086|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:09452030|PMID:10666230|PMID:10994546|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20869034|PMID:21279724|PMID:22701786|PMID:22778927|PMID:23028338|PMID:23613520|PMID:23934222|PMID:24584348|PMID:24728327|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29922827|PMID:30093976|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30676620|PMID:31044565|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31722815|PMID:32235514|PMID:32427313|PMID:32546565|PMID:32570879|PMID:32659497|PMID:32885271|PMID:33050356|PMID:33083949|PMID:33471991|PMID:33563768|PMID:34008892|PMID:34308366|PMID:34326862|PMID:34761457|PMID:35264596|PMID:35884425|PMID:37349538|PMID:7492758|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8734810|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9452030|PMID:9536098
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia		ISO	RGD:735813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08103176|PMID:08844212|PMID:09452030|PMID:10994546|PMID:12670332|PMID:16199547|PMID:16429406|PMID:17576681|PMID:17924555|PMID:19763152|PMID:20307669|PMID:20869034|PMID:21279724|PMID:22406018|PMID:23028338|PMID:23613520|PMID:23934222|PMID:24584348|PMID:25168418|PMID:25640679|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:28492532|PMID:28717661|PMID:29038235|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29922827|PMID:30676620|PMID:31558676|PMID:32427313|PMID:32546565|PMID:33050356|PMID:33471991|PMID:34008892|PMID:35264596|PMID:8103176|PMID:8128956|PMID:8639804|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9452030|PMID:9536098
12111111	FANCC	FA complementation group C	gene	DOID:13636	Fanconi anemia	onset	ISO	RGD:735813	D	RGD:9068941	20200609	RGD		DNA:deletion: :322delG (human)	PMID:11110674|REF_RGD_ID:11344914
12111111	FANCC	FA complementation group C	gene	DOID:14115	toxic shock syndrome		ISO	RGD:10566	D	RGD:9068941	20200609	RGD			PMID:17404312|REF_RGD_ID:11045879
12111111	FANCC	FA complementation group C	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12111111	FANCC	FA complementation group C	gene	DOID:1612	breast cancer		ISO	RGD:735813	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:08128956|PMID:08348157|PMID:08844212|PMID:09616183|PMID:10666230|PMID:11427142|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:17576681|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20509860|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:24033266|PMID:24728327|PMID:25741868|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26778106|PMID:27153395|PMID:27577878|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28873162|PMID:29360161|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30630526|PMID:31721781|PMID:31874108|PMID:32546565|PMID:33471991|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:1612	breast cancer		ISO	RGD:735813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:28492532
12111111	FANCC	FA complementation group C	gene	DOID:1793	pancreatic cancer		ISO	RGD:735813	D	RGD:9068941	20200609	RGD			PMID:16243825|REF_RGD_ID:2317238
12111111	FANCC	FA complementation group C	gene	DOID:1793	pancreatic cancer		ISO	RGD:735813	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation (human)	PMID:15695377|REF_RGD_ID:2317239
12111111	FANCC	FA complementation group C	gene	DOID:2018	hyperinsulinism		ISO	RGD:735813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22482891
12111111	FANCC	FA complementation group C	gene	DOID:2394	ovarian cancer		ISO	RGD:13612742	D	RGD:9068941	20260521	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	PMID:23028338|PMID:28492532|PMID:32885271
12111111	FANCC	FA complementation group C	gene	DOID:5041	esophageal cancer		ISO	RGD:735813	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111111	FANCC	FA complementation group C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735813	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:32566746
12111111	FANCC	FA complementation group C	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:25741868
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09616183|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30676620|PMID:30967997|PMID:31589614|PMID:31784482|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8799375|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33471991|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35264596|PMID:35739269|PMID:36315513|PMID:36474027|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36969007|PMID:37349538|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37349538|PMID:37865086|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:08882868|PMID:09452030|PMID:09616183|PMID:10383195|PMID:10666230|PMID:11050007|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12093742|PMID:12649160|PMID:12670332|PMID:12750283|PMID:14695169|PMID:14726700|PMID:15277238|PMID:15364573|PMID:15516848|PMID:15695377|PMID:1574115|PMID:16199547|PMID:1641028|PMID:16429406|PMID:16445838|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:19714462|PMID:20301575|PMID:20507306|PMID:20509860|PMID:20869034|PMID:21279724|PMID:21520333|PMID:21659346|PMID:22701786|PMID:22720145|PMID:22778927|PMID:22995991|PMID:23028338|PMID:23613520|PMID:23634996|PMID:24033266|PMID:24390348|PMID:24469828|PMID:24584348|PMID:24728327|PMID:25058500|PMID:25741868|PMID:25801821|PMID:26466335|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:26822237|PMID:26990548|PMID:27133164|PMID:27153395|PMID:27165003|PMID:27577878|PMID:28125075|PMID:28125078|PMID:28259476|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28762789|PMID:28767289|PMID:28775315|PMID:28873162|PMID:28878254|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29654263|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29905759|PMID:29922827|PMID:30031030|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30541756|PMID:30613976|PMID:30630526|PMID:30676620|PMID:30967997|PMID:31044565|PMID:31102422|PMID:31133068|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31721781|PMID:31722815|PMID:31784482|PMID:31867841|PMID:31874108|PMID:32235514|PMID:32427313|PMID:32496904|PMID:32546565|PMID:32566746|PMID:32570879|PMID:32620917|PMID:32659497|PMID:32885271|PMID:32923857|PMID:33050356|PMID:33083949|PMID:33084842|PMID:33314633|PMID:33471991|PMID:33563768|PMID:33780288|PMID:34008892|PMID:34106356|PMID:34117267|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34426522|PMID:34445631|PMID:34654685|PMID:34761457|PMID:35171259|PMID:35264596|PMID:35626031|PMID:35739269|PMID:35884425|PMID:36315513|PMID:36474027|PMID:36744932|PMID:36969007|PMID:37349538|PMID:37865086|PMID:7492758|PMID:7689011|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8499901|PMID:8613549|PMID:8621788|PMID:8639804|PMID:8703809|PMID:8734810|PMID:8799375|PMID:8829660|PMID:8844212|PMID:8882868|PMID:9207444|PMID:9242535|PMID:9272737|PMID:9398857|PMID:9452030|PMID:9521584|PMID:9536098|PMID:9616183
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08128956|PMID:08348157|PMID:08844212|PMID:09452030|PMID:10666230|PMID:11110674|PMID:11427142|PMID:11520787|PMID:12670332|PMID:14695169|PMID:14726700|PMID:15364573|PMID:15516848|PMID:15695377|PMID:16199547|PMID:1641028|PMID:16429406|PMID:17576681|PMID:17909071|PMID:17924555|PMID:19622403|PMID:20301575|PMID:20507306|PMID:22701786|PMID:22778927|PMID:23028338|PMID:23613520|PMID:24584348|PMID:24728327|PMID:25741868|PMID:25801821|PMID:26467025|PMID:26556299|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:26778106|PMID:27133164|PMID:27153395|PMID:27577878|PMID:28125075|PMID:28425259|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:28873162|PMID:29038235|PMID:29360161|PMID:29439820|PMID:29625052|PMID:29641532|PMID:29643063|PMID:29719599|PMID:29753700|PMID:29767408|PMID:29922827|PMID:30256826|PMID:30306255|PMID:30322717|PMID:30676620|PMID:31044565|PMID:31300551|PMID:31558676|PMID:31589614|PMID:31722815|PMID:32235514|PMID:32427313|PMID:32546565|PMID:32570879|PMID:32659497|PMID:32885271|PMID:33050356|PMID:33083949|PMID:33471991|PMID:33563768|PMID:34008892|PMID:34308366|PMID:34326862|PMID:34761457|PMID:35264596|PMID:35884425|PMID:37349538|PMID:7492758|PMID:8081385|PMID:8103176|PMID:8128956|PMID:8348157|PMID:8639804|PMID:8734810|PMID:8799375|PMID:8844212|PMID:9207444|PMID:9452030|PMID:9536098
12111111	FANCC	FA complementation group C	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:08103176|PMID:08844212|PMID:09452030|PMID:12670332|PMID:15695377|PMID:17576681|PMID:17924555|PMID:24584348|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26740942|PMID:28492532|PMID:28717661|PMID:29625052|PMID:29922827|PMID:30676620|PMID:31722815|PMID:32885271|PMID:33471991|PMID:35264596|PMID:8103176|PMID:8128956|PMID:8844212|PMID:9207444|PMID:9452030|PMID:9536098
12111111	FANCC	FA complementation group C	gene	DOID:9007456	Female Infertility		ISO	RGD:10566	D	RGD:9068941	20200609	RGD			PMID:8704201|REF_RGD_ID:1300317
12111111	FANCC	FA complementation group C	gene	DOID:9007692	Insulin Resistance		ISO	RGD:10566	D	RGD:9068941	20200609	RGD			PMID:22482891|REF_RGD_ID:11046266
12111111	FANCC	FA complementation group C	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:735813	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.S26F (human)	PMID:12670332|REF_RGD_ID:11046259
12111111	FANCC	FA complementation group C	gene	DOID:9970	obesity		ISO	RGD:10566	D	RGD:9068941	20200609	RGD			PMID:22482891|REF_RGD_ID:11046266
12111141	ZNF750	zinc finger protein 750	gene	DOID:9001638	Seborrhea-Like Dermatitis with Psoriasiform Elements		ISO	RGD:1602862	D	RGD:7240710	20180130	OMIM			
12111142	PAX2	paired box 2	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:35005812
12111142	PAX2	paired box 2	gene	DOID:0080206	congenital anomalies of the kidney and urinary tract 1		ISO	RGD:1313673	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1	PMID:22213154|PMID:25741868|PMID:32203253|PMID:34217267
12111142	PAX2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:7240710	20180130	OMIM			
12111142	PAX2	paired box 2	gene	DOID:0090006	renal coloboma syndrome		ISO	RGD:1313673	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAKUT WITH OR WITHOUT OCULAR ABNORMALITIES | ClinVar Annotator: match by term: Coloboma of optic nerve with renal disease | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME | ClinVar Annotator: match by term: PAPILLORENAL SYNDROME WITH MACULAR ABNORMALITIES | ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome | ClinVar Annotator: match by term: Renal coloboma syndrome	PMID:10466411|PMID:10533062|PMID:11093271|PMID:11461952|PMID:15652857|PMID:17576681|PMID:20221250|PMID:20301624|PMID:21108633|PMID:22213154|PMID:22350371|PMID:24429398|PMID:24676634|PMID:25741868|PMID:27226968|PMID:27657687|PMID:28492532|PMID:28566479|PMID:29973660|PMID:30076350|PMID:30241513|PMID:3077329|PMID:30773290|PMID:30937553|PMID:31001663|PMID:31060108|PMID:31576025|PMID:31692565|PMID:32164334|PMID:32203253|PMID:32776440|PMID:33532864|PMID:34059960|PMID:34696790|PMID:35444690|PMID:35574290|PMID:36549658|PMID:8589702|PMID:9536098|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:27657687
12111142	PAX2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:7240710	20180130	OMIM			
12111142	PAX2	paired box 2	gene	DOID:0111132	focal segmental glomerulosclerosis 7		ISO	RGD:1313673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 7 | ClinVar Annotator: match by term: PAX2-Related Disorder | ClinVar Annotator: match by term: PAX2-related disorder | ClinVar Annotator: match by term: focal segmental glomerulosclerosis 7	PMID:1093271|PMID:11461952|PMID:16199547|PMID:17576681|PMID:2|PMID:20221250|PMID:20301624|PMID:20358591|PMID:21380624|PMID:22213154|PMID:24429398|PMID:24676634|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28518168|PMID:28566479|PMID:29194579|PMID:30348286|PMID:30773290|PMID:31027891|PMID:31060108|PMID:31328266|PMID:31937884|PMID:32203253|PMID:32461654|PMID:32604935|PMID:32776440|PMID:33226606|PMID:33712733|PMID:33997468|PMID:34031707|PMID:34059960|PMID:34696790|PMID:34979951|PMID:35444690|PMID:36549658|PMID:36938085|PMID:7795640|PMID:9536098|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:1074	kidney failure		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
12111142	PAX2	paired box 2	gene	DOID:12270	coloboma		ISO	RGD:1313673	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:25741868
12111142	PAX2	paired box 2	gene	DOID:12577	urethral obstruction		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urethral obstruction	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:31001663
12111142	PAX2	paired box 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:7937920|REF_RGD_ID:2316757
12111142	PAX2	paired box 2	gene	DOID:2154	nephroblastoma		ISO	RGD:1313673	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12057921|REF_RGD_ID:2316755
12111142	PAX2	paired box 2	gene	DOID:289	endometriosis		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22473392
12111142	PAX2	paired box 2	gene	DOID:2975	cystic kidney disease		ISO	RGD:1313673	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystic kidney disease	
12111142	PAX2	paired box 2	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1313673	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12111142	PAX2	paired box 2	gene	DOID:5723	optic atrophy		ISO	RGD:1313673	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12111142	PAX2	paired box 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111142	PAX2	paired box 2	gene	DOID:576	proteinuria		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:630	genetic disease		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21380624|PMID:25741868|PMID:28492532|PMID:30348286|PMID:31937884|PMID:34059960|PMID:34215756|PMID:34696790|PMID:36549658
12111142	PAX2	paired box 2	gene	DOID:783	end stage renal disease		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16631587
12111142	PAX2	paired box 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1313673	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
12111142	PAX2	paired box 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12111142	PAX2	paired box 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:kidney cortex	PMID:15149326|REF_RGD_ID:2316747
12111142	PAX2	paired box 2	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1313673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12111142	PAX2	paired box 2	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:1313673	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal interstitial fibrosis	PMID:20221250|PMID:22213154|PMID:25741868|PMID:28492532|PMID:35444690|PMID:9760197
12111142	PAX2	paired box 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1305568	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:12444203|REF_RGD_ID:727468
12111142	PAX2	paired box 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111174	BEND6	BEN domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111174	BEND6	BEN domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111199	FADD	Fas associated via death domain	gene	DOID:0060108	brain glioma	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27255231|REF_RGD_ID:13792502
12111199	FADD	Fas associated via death domain	gene	DOID:0060482	oculoauricular syndrome		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
12111199	FADD	Fas associated via death domain	gene	DOID:0061060	immunodeficiency 90		ISO	RGD:1345195	D	RGD:7240710	20180130	OMIM			
12111199	FADD	Fas associated via death domain	gene	DOID:0061060	immunodeficiency 90		ISO	RGD:1345195	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FADD-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 90 WITH ENCEPHALOPATHY, FUNCTIONAL HYPOSPLENIA, AND HEPATIC DYSFUNCTION | ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	PMID:25741868|PMID:28492532
12111199	FADD	Fas associated via death domain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
12111199	FADD	Fas associated via death domain	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345195	D	RGD:9068941	20200609	RGD			PMID:16085017|REF_RGD_ID:13782385
12111199	FADD	Fas associated via death domain	gene	DOID:10763	hypertension	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:24355328|REF_RGD_ID:11344883
12111199	FADD	Fas associated via death domain	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27441629|REF_RGD_ID:13792501
12111199	FADD	Fas associated via death domain	gene	DOID:1240	leukemia		ISO	RGD:1345195	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7939734 (human)	PMID:22244917|REF_RGD_ID:11341800
12111199	FADD	Fas associated via death domain	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:27131981|REF_RGD_ID:13792503
12111199	FADD	Fas associated via death domain	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:30138765|REF_RGD_ID:13792497
12111199	FADD	Fas associated via death domain	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628700	D	RGD:9068941	20220527	RGD		mRNA,protein:increased expression:cerebral cortex:	PMID:18096138|REF_RGD_ID:4142863
12111199	FADD	Fas associated via death domain	gene	DOID:2560	morphine dependence	severity	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:21088039|REF_RGD_ID:11341805
12111199	FADD	Fas associated via death domain	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23378241|REF_RGD_ID:11344885
12111199	FADD	Fas associated via death domain	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:18950622|REF_RGD_ID:11341807
12111199	FADD	Fas associated via death domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111199	FADD	Fas associated via death domain	gene	DOID:630	genetic disease		ISO	RGD:1345195	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12111199	FADD	Fas associated via death domain	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23574812|REF_RGD_ID:11344882
12111199	FADD	Fas associated via death domain	gene	DOID:9000288	Chronic Intermittent Hypoxia	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:26769958|REF_RGD_ID:13792505
12111199	FADD	Fas associated via death domain	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16450001
12111199	FADD	Fas associated via death domain	gene	DOID:9001349	Stomatognathic Diseases		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
12111199	FADD	Fas associated via death domain	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:23423194|REF_RGD_ID:8661760
12111199	FADD	Fas associated via death domain	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:29635023|REF_RGD_ID:13782292
12111199	FADD	Fas associated via death domain	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic	PMID:24122010|REF_RGD_ID:11341811
12111199	FADD	Fas associated via death domain	gene	DOID:9004786	Carbon Tetrachloride Poisoning	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:25687490|REF_RGD_ID:11341810
12111199	FADD	Fas associated via death domain	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:23657904|REF_RGD_ID:11344884
12111199	FADD	Fas associated via death domain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:25447754|PMID:26062544|REF_RGD_ID:10053709|REF_RGD_ID:11341803
12111199	FADD	Fas associated via death domain	gene	DOID:9007480	Hyperoxia		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:thalamus	PMID:19107989|REF_RGD_ID:8662854
12111199	FADD	Fas associated via death domain	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:26038570|REF_RGD_ID:11341801
12111199	FADD	Fas associated via death domain	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:628700	D	RGD:9068941	20200609	RGD			PMID:26948086|REF_RGD_ID:13792504
12111199	FADD	Fas associated via death domain	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1345195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17656375
12111199	FADD	Fas associated via death domain	gene	DOID:9009219	Diabetic Embryopathy		ISO	RGD:732106	D	RGD:9068941	20200609	RGD			PMID:26419589|REF_RGD_ID:13792560
12111199	FADD	Fas associated via death domain	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1345195	D	RGD:9068941	20200609	RGD			PMID:15520222|REF_RGD_ID:11341799
12111199	FADD	Fas associated via death domain	gene	DOID:9970	obesity		ISO	RGD:628700	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:18202171|REF_RGD_ID:2293027
12111206	IL31	interleukin 31	gene	DOID:3310	atopic dermatitis		ISO	RGD:1353267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1348251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30320580
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:5408	Paget disease of bone		ISO	RGD:1551628	D	RGD:9068941	20220825	MouseDO		OMIM:167250 | OMIM:602080 | OMIM:606263	
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1348251	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Severe Combined Immunodeficiency	PMID:25741868
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1348251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25780291
12111232	INPP5D	inositol polyphosphate-5-phosphatase D	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1551628	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11350498|RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:11351670|RGD:11580345|RGD:11581319|RGD:11582280|RGD:126740499|RGD:126756251|RGD:126756884|RGD:126769003|RGD:126909314|RGD:127237074|RGD:127247823|RGD:127258301|RGD:127283747|RGD:127288413|RGD:127291544|RGD:127328892|RGD:12884606|RGD:12890396|RGD:12892560|RGD:13606920|RGD:13813125|RGD:13815660|RGD:14719418|RGD:14742221|RGD:15101190|RGD:15110305|RGD:151793196|RGD:151794930|RGD:151795489|RGD:151817285|RGD:151819763|RGD:151827351|RGD:151829982|RGD:151831091|RGD:152047758|RGD:152051610|RGD:152051820|RGD:152054341|RGD:152054411|RGD:152054521|RGD:152055223|RGD:152057252|RGD:152058398|RGD:155725835|RGD:155945599|RGD:155945832|RGD:155947761|RGD:155948260|RGD:155989089|RGD:155992752|RGD:155997879|RGD:156023385|RGD:156025231|RGD:156062216|RGD:156074282|RGD:156092750|RGD:156104956|RGD:156126560|RGD:156157784|RGD:156182634|RGD:156194830|RGD:156239985|RGD:156307719|RGD:156311131|RGD:156315171|RGD:156319230|RGD:156351107|RGD:156359484|RGD:156362560|RGD:156382227|RGD:156396860|RGD:156402069|RGD:156417749|RGD:156435648|RGD:156435718|RGD:26920232|RGD:38485898|RGD:38487191|RGD:38489852|RGD:38491263|RGD:402475023|RGD:402484339|RGD:402484347|RGD:402484768|RGD:402484779|RGD:402484813|RGD:402484829|RGD:402484836|RGD:402484848|RGD:402484861|RGD:402484870|RGD:402484884|RGD:402484895|RGD:402484928|RGD:402484957|RGD:402484968|RGD:402484979|RGD:404981030|RGD:405031218|RGD:405031235|RGD:405031244|RGD:405031265|RGD:405031282|RGD:405031312|RGD:405031360|RGD:405031499|RGD:405031511|RGD:405031551|RGD:405031566|RGD:405031578|RGD:405031623|RGD:405031666|RGD:405031679|RGD:405031708|RGD:405031721|RGD:405031732|RGD:405031749|RGD:405032055|RGD:405064360|RGD:405072188|RGD:405075550|RGD:405096143	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405096143|RGD:405210278|RGD:405235776|RGD:405252026	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:405210278|RGD:405235776|RGD:405252026|RGD:405873568	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111263	DIPK1A	divergent protein kinase domain 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111282	CDH24	cadherin 24	gene	DOID:1115	sarcoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111282	CDH24	cadherin 24	gene	DOID:1909	melanoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111282	CDH24	cadherin 24	gene	DOID:3275	thymoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111282	CDH24	cadherin 24	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12111282	CDH24	cadherin 24	gene	DOID:4362	cervical cancer		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111282	CDH24	cadherin 24	gene	DOID:5041	esophageal cancer		ISO	RGD:1353170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111282	CDH24	cadherin 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111282	CDH24	cadherin 24	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12111282	CDH24	cadherin 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111282	CDH24	cadherin 24	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111282	CDH24	cadherin 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346308	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12111302	SGIP1	SH3GL interacting endocytic adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111361	BEND2	BEN domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111361	BEND2	BEN domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111361	BEND2	BEN domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111361	BEND2	BEN domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111361	BEND2	BEN domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12111361	BEND2	BEN domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111361	BEND2	BEN domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111361	BEND2	BEN domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111361	BEND2	BEN domain containing 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1350095	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12111361	BEND2	BEN domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111361	BEND2	BEN domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111406	TUG1	taurine up-regulated 1	gene	DOID:12858	Huntington's disease		ISO	RGD:1605999	D	RGD:9068941	20250130	RGD		up-regulated	PMID:22202438|REF_RGD_ID:11073597
12111406	TUG1	taurine up-regulated 1	gene	DOID:1324	lung cancer		ISO	RGD:1605999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111406	TUG1	taurine up-regulated 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1605999	D	RGD:9068941	20250130	CTD		CTD Direct Evidence: therapeutic	PMID:37582412
12111406	TUG1	taurine up-regulated 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:9685395	D	RGD:9068941	20250130	RGD			PMID:30287503|REF_RGD_ID:38549580
12111406	TUG1	taurine up-regulated 1	gene	DOID:9002909	Oxygen-Induced Retinopathy	ameliorates	ISO	RGD:1623542	D	RGD:9068941	20250130	RGD			PMID:35445044|REF_RGD_ID:329812014
12111467	MIR31	microRNA mir-31	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1343532	D	RGD:9068941	20220624	RGD		RNA:increased expression:blood plasma (human)	PMID:31874165|REF_RGD_ID:152995482
12111467	MIR31	microRNA mir-31	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:blood serum (human)	PMID:21658006|REF_RGD_ID:152998938
12111467	MIR31	microRNA mir-31	gene	DOID:0050866	oral squamous cell carcinoma	treatment	ISO	RGD:1343532	D	RGD:9068941	20220722	RGD			PMID:20233326|REF_RGD_ID:153297767
12111467	MIR31	microRNA mir-31	gene	DOID:10534	stomach cancer		ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		RNA:decreased expression:stomach (human)	PMID:19598010|REF_RGD_ID:153297815
12111467	MIR31	microRNA mir-31	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		RNA:decreased expression:stomach (human)	PMID:27904131|REF_RGD_ID:153297803
12111467	MIR31	microRNA mir-31	gene	DOID:1324	lung cancer		ISO	RGD:1608161	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12111467	MIR31	microRNA mir-31	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:peripheral blood mononuclear cell (human)	PMID:25765717|REF_RGD_ID:152998919
12111467	MIR31	microRNA mir-31	gene	DOID:1612	breast cancer		ISO	RGD:1343532	D	RGD:9068941	20220722	RGD		RNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32104069|REF_RGD_ID:153297766
12111467	MIR31	microRNA mir-31	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:decreased expression:mucosa of larynx (human)	PMID:29737563|REF_RGD_ID:152998933
12111467	MIR31	microRNA mir-31	gene	DOID:3068	glioblastoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:decreased expression:brain (human)	PMID:22089331|REF_RGD_ID:152998941
12111467	MIR31	microRNA mir-31	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:decreased expression:blood serum (human)	PMID:21658006|REF_RGD_ID:152998938
12111467	MIR31	microRNA mir-31	gene	DOID:3744	cervical squamous cell carcinoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:blood serum (human)	PMID:21658006|REF_RGD_ID:152998938
12111467	MIR31	microRNA mir-31	gene	DOID:3748	esophagus squamous cell carcinoma	ameliorates	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD			PMID:21658006|REF_RGD_ID:152998938
12111467	MIR31	microRNA mir-31	gene	DOID:3748	esophagus squamous cell carcinoma	ameliorates	ISO	RGD:2325391	D	RGD:9068941	20220204	RGD			PMID:32123074|REF_RGD_ID:127285381
12111467	MIR31	microRNA mir-31	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:blood serum (human)	PMID:21658006|REF_RGD_ID:152998938
12111467	MIR31	microRNA mir-31	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1343532	D	RGD:9068941	20220708	RGD		RNA:increased expression:lung (human)	PMID:21890451|REF_RGD_ID:152998950
12111467	MIR31	microRNA mir-31	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343532	D	RGD:9068941	20220708	RGD		miRNA:increased expression:sputum (human)	PMID:27777637|REF_RGD_ID:152998954
12111467	MIR31	microRNA mir-31	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:lung (human)	PMID:27215092|REF_RGD_ID:11250998
12111467	MIR31	microRNA mir-31	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:lung (human)	PMID:23946296|REF_RGD_ID:152998944
12111467	MIR31	microRNA mir-31	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:increased expression:lung (human)	PMID:26657862|PMID:29367106|REF_RGD_ID:11343268|REF_RGD_ID:152998945
12111467	MIR31	microRNA mir-31	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		RNA:decreased expression:proximal convoluted tubule (human)	PMID:30597305|REF_RGD_ID:153297805
12111467	MIR31	microRNA mir-31	gene	DOID:4606	bile duct cancer	exacerbates	ISO	RGD:1343532	D	RGD:9068941	20220714	RGD		RNA:increased expression:bile duct (human)	PMID:29860474|REF_RGD_ID:152998990
12111467	MIR31	microRNA mir-31	gene	DOID:4989	pancreatitis		ISO	RGD:1343532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12111467	MIR31	microRNA mir-31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343532	D	RGD:9068941	20220714	RGD		RNA:decreased expression:liver (human)	PMID:28623129|REF_RGD_ID:152998991
12111467	MIR31	microRNA mir-31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325391	D	RGD:9068941	20220721	RGD		miRNA:decreased expression:liver (rat)	PMID:25797269|REF_RGD_ID:11085965
12111467	MIR31	microRNA mir-31	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1343532	D	RGD:9068941	20220721	RGD		miRNA:decreased expression:liver (human)	PMID:25797269|REF_RGD_ID:11085965
12111467	MIR31	microRNA mir-31	gene	DOID:8577	ulcerative colitis		ISO	RGD:1343532	D	RGD:9068941	20200609	RGD		miRNA:increased expression:colon	PMID:29438285|REF_RGD_ID:21403682
12111467	MIR31	microRNA mir-31	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12111467	MIR31	microRNA mir-31	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		associated with colorectal cancer;RNA:increased expression:colorectum (human)	PMID:26497852|REF_RGD_ID:153297806
12111467	MIR31	microRNA mir-31	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		associated with colorectal cancer	PMID:30108104|REF_RGD_ID:153297776
12111467	MIR31	microRNA mir-31	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		associated with stomach cancer;human cells in mouse model	PMID:27174918|REF_RGD_ID:153297811
12111467	MIR31	microRNA mir-31	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1343532	D	RGD:9068941	20220721	RGD		associated with inflammatory bowel disease; RNA:increased expression:colorectal mucosa (human)	PMID:20848542|REF_RGD_ID:153297753
12111467	MIR31	microRNA mir-31	gene	DOID:9004831	Colitis-Associated Neoplasms	exacerbates	ISO	RGD:1608161	D	RGD:9068941	20220714	RGD			PMID:28600172|REF_RGD_ID:152998983
12111467	MIR31	microRNA mir-31	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343532	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20237410
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer		ISO	RGD:1343532	D	RGD:9068941	20220714	RGD		RNA:increased expression:colorectal mucosa (human)	PMID:26173758|REF_RGD_ID:11530687
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer		ISO	RGD:1343532	D	RGD:9068941	20220721	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer		ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		RNA:increased expression:colorectum (human)	PMID:29928882|REF_RGD_ID:153297812
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		RNA:increased expression:colorectum (human)	PMID:28600172|PMID:30396078|REF_RGD_ID:152998983|REF_RGD_ID:153297791
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		miRNA:increased expression:colorectal mucosa (human)	PMID:19242066|REF_RGD_ID:153297808
12111467	MIR31	microRNA mir-31	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		human cells in mouse model	PMID:32682784|REF_RGD_ID:153297782
12111467	MIR31	microRNA mir-31	gene	DOID:9261	nasopharynx carcinoma	ameliorates	ISO	RGD:1343532	D	RGD:9068941	20220728	RGD		Human cells in mouse model	PMID:25098679|REF_RGD_ID:152998921
12111467	MIR31	microRNA mir-31	gene	DOID:9261	nasopharynx carcinoma	disease_progression	ISO	RGD:1343532	D	RGD:9068941	20220707	RGD		RNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:31129965|REF_RGD_ID:152998936
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25205868|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:32869108
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: STGD | ClinVar Annotator: match by term: Stargardt disease	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25474149|PMID:25741868|PMID:26106334|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31544997|PMID:32869108|PMID:32913385|PMID:35672425
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25326637|PMID:25474149|PMID:25616768|PMID:25741868|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31456290|PMID:31544997|PMID:32531858|PMID:32869108|PMID:32913385|PMID:3442652|PMID:34703197|PMID:35119454|PMID:35672425|PMID:36259723|PMID:37734845
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15161866|PMID:15223812|PMID:15712225|PMID:16379026|PMID:22975760|PMID:22995991|PMID:23776498|PMID:24504161|PMID:25326637|PMID:25474149|PMID:25741868|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:31456290|PMID:31544997|PMID:32531858|PMID:32869108|PMID:32913385|PMID:3442652|PMID:35119454|PMID:35672425|PMID:36259723|PMID:37734845
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STGD	PMID:15712225|PMID:25741868|PMID:28492532
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MACULAR DYSTROPHY WITH FLECKS, TYPE 1 | ClinVar Annotator: match by term: Stargardt disease 1	PMID:15712225|PMID:25741868|PMID:28492532
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		IAGP		D	RGD:12801476	20250611	OMIA		Achromatopsia-3, CNGB3-related	PMID:5314320|PMID:5298491|PMID:12140185|PMID:20061167|PMID:20378608|PMID:16879359|PMID:22065099|PMID:23568263|PMID:23601474|PMID:25752464|PMID:29020838|PMID:32189222|PMID:35588783|PMID:5314319|PMID:39739008|PMID:38334230|PMID:39934341|PMID:40461693
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISO	RGD:1352344	D	RGD:7240710	20180130	OMIM			
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:0110008	achromatopsia 3		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACHM3 | ClinVar Annotator: match by term: ACHROMATOPSIA 3 | ClinVar Annotator: match by term: Achromatopsia 3 | ClinVar Annotator: match by term: CNGB3-related disorder | ClinVar Annotator: match by term: CNGB3-related retinopathy | ClinVar Annotator: match by term: Total colorblindness with myopia | ClinVar Annotator: match by term: achromatopsia 3	PMID:10888875|PMID:10958649|PMID:12357335|PMID:12815043|PMID:15223812|PMID:15459792|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16319819|PMID:17576681|PMID:19592100|PMID:20079539|PMID:20574029|PMID:22975760|PMID:23776498|PMID:25525159|PMID:25741868|PMID:26992781|PMID:27479814|PMID:28341476|PMID:28492532|PMID:28795510|PMID:29145603|PMID:30418171|PMID:30544257|PMID:31544997|PMID:31589614|PMID:31964843|PMID:32531858|PMID:32581362|PMID:33737949|PMID:33749171|PMID:3442652|PMID:34703197|PMID:35119454|PMID:40304364|PMID:9536098
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:11124331|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28166811|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28795510|PMID:30718709|PMID:32860008|PMID:33546218
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20301591|PMID:21270786|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:25974703|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16379026|PMID:17265047|PMID:19592100|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25741868|PMID:25770143|PMID:26106334|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28418496|PMID:28492532|PMID:28795510|PMID:30418171|PMID:30718709|PMID:32860008|PMID:32869108|PMID:33546218
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10888875|PMID:10958649|PMID:12815043|PMID:1347967|PMID:14757870|PMID:15161866|PMID:15657609|PMID:15712225|PMID:16199547|PMID:16379026|PMID:17265047|PMID:19592100|PMID:20079539|PMID:22975760|PMID:22995991|PMID:23805033|PMID:24033266|PMID:24504161|PMID:25326637|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26990548|PMID:27535533|PMID:27884173|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28418496|PMID:28492532|PMID:28746191|PMID:28795510|PMID:28929832|PMID:29053603|PMID:29769798|PMID:30190494|PMID:30337596|PMID:30418171|PMID:30544257|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31816670|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32531858|PMID:32581362|PMID:32860008|PMID:32869108|PMID:33546218|PMID:33562422|PMID:33737949|PMID:33749171|PMID:33851411|PMID:34426522|PMID:34449556|PMID:34758253|PMID:35119454|PMID:35260635|PMID:35456422|PMID:36259723|PMID:36460718|PMID:36672815|PMID:36909829|PMID:37734845
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15657609|PMID:16199547|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28795510|PMID:34703197
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:1324	lung cancer		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13399	color blindness		ISO	RGD:1352344	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30418171
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13399	color blindness	susceptibility	ISO	RGD:1352344	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:10958649|REF_RGD_ID:1600870
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:13911	achromatopsia		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Achromatopsia | ClinVar Annotator: match by term: achromatopsia	PMID:10888875|PMID:10958649|PMID:12815043|PMID:14757870|PMID:15161866|PMID:15459792|PMID:15657609|PMID:15712225|PMID:1572225|PMID:16199547|PMID:16319819|PMID:16379026|PMID:17265047|PMID:17576681|PMID:17652762|PMID:19592100|PMID:20079539|PMID:22264887|PMID:22975760|PMID:23805033|PMID:24033266|PMID:24148654|PMID:25205868|PMID:25326637|PMID:25525159|PMID:25558076|PMID:25558176|PMID:25616768|PMID:25741868|PMID:25770143|PMID:26106334|PMID:26992781|PMID:27479814|PMID:28005958|PMID:28041643|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28704108|PMID:28746191|PMID:28795510|PMID:28929832|PMID:29053603|PMID:29343940|PMID:29618791|PMID:29641573|PMID:29769798|PMID:30190494|PMID:30337596|PMID:30418171|PMID:30544257|PMID:30609409|PMID:30718709|PMID:31429209|PMID:31456290|PMID:31544997|PMID:31589614|PMID:31725702|PMID:31816670|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32036094|PMID:32037395|PMID:32340307|PMID:32531858|PMID:32581362|PMID:32641690|PMID:32783370|PMID:32856788|PMID:32860008|PMID:32869108|PMID:32913385|PMID:33546218|PMID:33562422|PMID:33737949|PMID:33749171|PMID:33807868|PMID:33851411|PMID:34426522|PMID:34449556|PMID:34703197|PMID:34758253|PMID:35119454|PMID:35260635|PMID:35456422|PMID:35672425|PMID:36259723|PMID:36460718|PMID:36669873|PMID:36672815|PMID:36833446|PMID:36909829|PMID:36980963|PMID:37158316|PMID:37372476|PMID:37798099|PMID:38219857|PMID:38465142|PMID:40304364|PMID:9536098
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:5679	retinal disease		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:630	genetic disease		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10888875|PMID:10958649|PMID:15657609|PMID:15712225|PMID:16199547|PMID:17576681|PMID:25205868|PMID:25525159|PMID:25741868|PMID:27479814|PMID:27874104|PMID:28341476|PMID:28492532|PMID:2879551|PMID:28795510|PMID:29186038|PMID:31544997|PMID:31877759|PMID:31964843|PMID:32531858|PMID:33737949|PMID:34426522|PMID:34703197|PMID:35119454|PMID:36259723|PMID:9536098
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:1352344	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:15712225|PMID:25741868|PMID:27479814|PMID:28492532|PMID:35119454|PMID:36259723
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9003656	Achromatopsia 1	treatment	ISO	RGD:1352344	D	RGD:9068941	20200609	RGD			PMID:21576125|REF_RGD_ID:9068450
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111489	CNGB3	cyclic nucleotide gated channel subunit beta 3	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1352344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:15657609|PMID:26106334
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:1115	sarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:1909	melanoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111519	TUT7	terminal uridylyl transferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:0081188	autosomal recessive intellectual developmental disorder 14		ISO	RGD:733590	D	RGD:7240710	20180130	OMIM			
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:0081188	autosomal recessive intellectual developmental disorder 14		ISO	RGD:733590	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 14 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 14 | ClinVar Annotator: match by term: TECR-related condition	PMID:25741868
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:1115	sarcoma		ISO	RGD:733590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:1324	lung cancer		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:4362	cervical cancer		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:733590	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111559	TECR	trans-2,3-enoyl-CoA reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733590	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:10534	stomach cancer		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:12858	Huntington's disease		ISO	RGD:732056	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum	PMID:12604778|REF_RGD_ID:11535137
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:4362	cervical cancer		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:5041	esophageal cancer		ISO	RGD:732056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:621145	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26097534|REF_RGD_ID:11535148
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111576	TRIP10	thyroid hormone receptor interactor 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:0050962	spinocerebellar ataxia 12		ISO	RGD:1352838	D	RGD:7240710	20180130	OMIM			
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:0050962	spinocerebellar ataxia 12		ISO	RGD:1352838	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PPP2R2B-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 12 | ClinVar Annotator: match by term: spinocerebellar ataxia type 12	PMID:25741868
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:0060058	lymphoma		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1352838	D	RGD:9068941	20200609	RGD		DNA:repeat	PMID:21029765|REF_RGD_ID:5686295
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:1115	sarcoma		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1352838	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs319217 (human)	PMID:20669227|REF_RGD_ID:5686296
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1352838	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18940801
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1352838	D	RGD:9068941	20200609	RGD		DNA:repeat, SNPs, haplotype:multiple	PMID:20629122|REF_RGD_ID:5686297
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9003539	Hyperacusis		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352838	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1352838	D	RGD:9068941	20200609	RGD			PMID:21746932|REF_RGD_ID:5686291
12111598	PPP2R2B	protein phosphatase 2 regulatory subunit Bbeta	gene	DOID:936	brain disease		ISO	RGD:1352838	D	RGD:9068941	20200609	RGD			PMID:21471219|REF_RGD_ID:5686294
12111640	USO1	USO1 vesicle transport factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:10534	stomach cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:1115	sarcoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:2394	ovarian cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:3275	thymoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:37	skin disease		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12111640	USO1	USO1 vesicle transport factor	gene	DOID:4362	cervical cancer		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:5041	esophageal cancer		ISO	RGD:733099	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12111640	USO1	USO1 vesicle transport factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111640	USO1	USO1 vesicle transport factor	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:733099	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12111640	USO1	USO1 vesicle transport factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1313575	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1313575	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111674	DNPEP	aspartyl aminopeptidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1313575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12111697	RANBP6	RAN binding protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111697	RANBP6	RAN binding protein 6	gene	DOID:1909	melanoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111697	RANBP6	RAN binding protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12111697	RANBP6	RAN binding protein 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1313031	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:0080074	neural tube defect		ISO	RGD:734121	D	RGD:9068941	20200609	RGD			PMID:11823447|REF_RGD_ID:734781
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:0110113	atrial heart septal defect 8		ISO	RGD:734120	D	RGD:7240710	20180130	OMIM			
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:0110113	atrial heart septal defect 8		ISO	RGD:734120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL SEPTAL DEFECT 8 | ClinVar Annotator: match by term: Atrial septal defect 8	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:10907	microcephaly		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:1115	sarcoma		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:11836	clubfoot		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21660965
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:734120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:1681	heart septal defect		ISO	RGD:734120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16287139
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:1682	congenital heart disease		ISO	RGD:734121	D	RGD:9068941	20200609	RGD			PMID:11823447|REF_RGD_ID:734781
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:2316	brain ischemia		ISO	RGD:620112	D	RGD:9068941	20200609	RGD			PMID:16434029|REF_RGD_ID:1581188
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:3347	osteosarcoma		ISO	RGD:620112	D	RGD:9068941	20200609	RGD		DNA:deletion (rat)	PMID:19825367|REF_RGD_ID:5147850
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:480	movement disease		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734120	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:630	genetic disease		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:734120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:734121	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:767	muscular atrophy		ISO	RGD:734120	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19032942
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:8488	polyhydramnios		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9005616	Micrognathism		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9005639	Mandibular Fractures		ISO	RGD:620112	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone	PMID:19607804|REF_RGD_ID:5147852
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9007001	Bradycardia		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9007054	Ventricular Septal Defect 2		ISO	RGD:734120	D	RGD:7240710	20180130	OMIM			
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9007054	Ventricular Septal Defect 2		ISO	RGD:734120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CITED2-related condition | ClinVar Annotator: match by term: VENTRICULAR SEPTAL DEFECT 2 | ClinVar Annotator: match by term: Ventricular septal defect 2 | ClinVar Annotator: match by term: ventricular septal defect 2	PMID:25741868|PMID:28492532
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9007661	Dwarfism		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111708	CITED2	Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:734120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868
12111714	GPC5	glypican 5	gene	DOID:10534	stomach cancer		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111714	GPC5	glypican 5	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1318835	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21441931
12111714	GPC5	glypican 5	gene	DOID:1909	melanoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111714	GPC5	glypican 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111714	GPC5	glypican 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111714	GPC5	glypican 5	gene	DOID:9001542	Albuminuria		ISO	RGD:1318835	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21441931
12111714	GPC5	glypican 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111726	CENPJ	centromere protein J	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1553493	D	RGD:9068941	20260521	MouseDO			
12111726	CENPJ	centromere protein J	gene	DOID:0050587	trichotillomania		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111726	CENPJ	centromere protein J	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:7240710	20180130	OMIM			
12111726	CENPJ	centromere protein J	gene	DOID:0070010	Seckel syndrome 4		ISO	RGD:1321379	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: SECKEL SYNDROME 4 | ClinVar Annotator: match by term: Seckel syndrome 4	PMID:15793586|PMID:16900296|PMID:18414213|PMID:2052243|PMID:20522431|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:7240710	20180130	OMIM			
12111726	CENPJ	centromere protein J	gene	DOID:0070290	primary autosomal recessive microcephaly 6		ISO	RGD:1321379	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CENPJ-related condition | ClinVar Annotator: match by term: MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 6, primary, autosomal recessive	PMID:15793586|PMID:16900296|PMID:18414213|PMID:20301772|PMID:2052243|PMID:20522431|PMID:20978018|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32549991|PMID:34958143|PMID:35229910
12111726	CENPJ	centromere protein J	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1321379	D	RGD:9068941	20260521	RGD		DNA:deletion mutation:cds:c.3243-46delTCAG (human)	PMID:16900296|REF_RGD_ID:11541115
12111726	CENPJ	centromere protein J	gene	DOID:0070297	primary microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:0112232	lissencephaly 3		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly type 3	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:0112234	microlissencephaly		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microlissencephaly	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:10534	stomach cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111726	CENPJ	centromere protein J	gene	DOID:1059	intellectual disability		ISO	RGD:1321379	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:10907	microcephaly		ISO	RGD:1321379	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:15793586|PMID:16900296|PMID:20301772|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111726	CENPJ	centromere protein J	gene	DOID:1115	sarcoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111726	CENPJ	centromere protein J	gene	DOID:12849	autistic disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:1826	epilepsy		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:1909	melanoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111726	CENPJ	centromere protein J	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Head-banging	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:3275	thymoma		ISO	RGD:1321379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111726	CENPJ	centromere protein J	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12111726	CENPJ	centromere protein J	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111726	CENPJ	centromere protein J	gene	DOID:535	sleep disorder		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:15793586|PMID:16900296|PMID:20522431|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532
12111726	CENPJ	centromere protein J	gene	DOID:630	genetic disease		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
12111726	CENPJ	centromere protein J	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15793586|PMID:16900296|PMID:20522431|PMID:25741868|PMID:28492532|PMID:32549991
12111726	CENPJ	centromere protein J	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111726	CENPJ	centromere protein J	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111726	CENPJ	centromere protein J	gene	DOID:9256	colorectal cancer		ISO	RGD:1321379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12111726	CENPJ	centromere protein J	gene	DOID:9849	Meniere's disease		ISO	RGD:1321379	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25741868|PMID:28492532
12111756	IFIT5	interferon induced protein with tetratricopeptide repeats 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111756	IFIT5	interferon induced protein with tetratricopeptide repeats 5	gene	DOID:9001488	Human Influenza		ISO	RGD:1348146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:1115	sarcoma		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:1324	lung cancer		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:1909	melanoma		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111766	MMP16	matrix metallopeptidase 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:0050865	tongue squamous cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21689966|REF_RGD_ID:8661665
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20250130	RGD		protein:increased expression:oral epithelium	PMID:30981761|REF_RGD_ID:597538586
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1565646	D	RGD:9068941	20250130	RGD			PMID:26296359|REF_RGD_ID:597538582
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:0111801	syndromic microphthalmia 3		ISO	RGD:1344695	D	RGD:7240710	20180130	OMIM			
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:10811	nasal cavity cancer		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:23544055|REF_RGD_ID:8661654
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29396848
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:12528	lesion of sciatic nerve		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		mRNA,protein:increased expression:sciatic nerve	PMID:32029747|REF_RGD_ID:407985733
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:1565646	D	RGD:9068941	20231221	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:30277635|REF_RGD_ID:401938665
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21822303|PMID:22832207|REF_RGD_ID:8661657|REF_RGD_ID:8661663
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1612	breast cancer	treatment	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:22561374|REF_RGD_ID:8661656
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		protein:increased expression:mammalian vulva, epithelium	PMID:23518916|REF_RGD_ID:8661666
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:21410764|REF_RGD_ID:8661664
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		protein:increased expression:hippocampus :	PMID:26607632|REF_RGD_ID:597538583
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344695	D	RGD:9068941	20250130	RGD			PMID:26290228|REF_RGD_ID:597538585
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD			PMID:22899292|REF_RGD_ID:8661672
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:3347	osteosarcoma		ISO	RGD:1344695	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:34508303
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25184679
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20220714	RGD		mRNA:altered expression:liver (human)	PMID:31687280|REF_RGD_ID:152998978
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1565646	D	RGD:9068941	20230202	RGD			PMID:34321385|REF_RGD_ID:155882552
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:8466	retinal degeneration		ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		protein:increased expression:retina	PMID:31933849|REF_RGD_ID:597538544
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:8618	oral cavity cancer	ameliorates	ISO	RGD:1344695	D	RGD:9068941	20250130	RGD			PMID:30981761|REF_RGD_ID:597538586
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1558014	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:23169458|REF_RGD_ID:8661675
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1565646	D	RGD:9068941	20200609	RGD			PMID:23169458|REF_RGD_ID:8661675
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms	PMID:24382260|REF_RGD_ID:8661670
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532573
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9002049	Anophthalmia		ISO	RGD:1344695	D	RGD:9068941	20250724	RGD		DNA:nonsense mutations: :multiple	PMID:12612584|REF_RGD_ID:1599088
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9004866	Ataxia		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29732603
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27415467
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19801978
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1565646	D	RGD:9068941	20200609	RGD			PMID:23828673|REF_RGD_ID:8661677
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1565646	D	RGD:9068941	20230202	RGD			PMID:34321385|REF_RGD_ID:155882552
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9007702	Carcinogenesis	treatment	ISO	RGD:1565646	D	RGD:9068941	20250130	RGD		associated with diethylnitrosamine (DEN)-induced lung carcinogenesis	PMID:37259369|REF_RGD_ID:597538542
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9007920	Thoracic Neoplasms		ISO	RGD:1344695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26343384
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.D123G (human)	PMID:19471311|REF_RGD_ID:8661661
12111780	SOX2	SRY-box transcription factor 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1344695	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:19921648|REF_RGD_ID:8661660
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0080417	developmental and epileptic encephalopathy 38		ISO	RGD:1349198	D	RGD:7240710	20190315	OMIM			
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0080417	developmental and epileptic encephalopathy 38		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARV1-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 38 | ClinVar Annotator: match by term: developmental and epileptic encephalopathy, 38	PMID:25741868|PMID:27270415|PMID:28492532|PMID:32165008|PMID:33084218|PMID:34296759|PMID:37804371
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:0081134	3-methylglutaconic aciduria type 7b		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-methylglutaconic aciduria, type VIIB	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:10534	stomach cancer		ISO	RGD:1349198	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:10907	microcephaly		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:11111	hydronephrosis		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:1826	epilepsy		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:630	genetic disease		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:27270415|PMID:28492532|PMID:34296759
12111785	ARV1	ARV1 homolog, fatty acid homeostasis modulator	gene	DOID:936	brain disease		ISO	RGD:1349198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1354446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonsyndromic cleft lip palate	PMID:25741868
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:0061107	retinitis pigmentosa 92		ISO	RGD:1354446	D	RGD:7240710	20211201	OMIM			
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:0061107	retinitis pigmentosa 92		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 92	PMID:25741868
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354446	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1354446	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354446	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111795	HKDC1	hexokinase domain containing 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1354446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:10534	stomach cancer		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:1909	melanoma		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:4362	cervical cancer		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111820	SLC5A11	solute carrier family 5 member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111844	MYO1D	myosin ID	gene	DOID:10534	stomach cancer		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111844	MYO1D	myosin ID	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111844	MYO1D	myosin ID	gene	DOID:1115	sarcoma		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111844	MYO1D	myosin ID	gene	DOID:12849	autistic disorder		ISO	RGD:1349117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17376794
12111844	MYO1D	myosin ID	gene	DOID:1909	melanoma		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12111844	MYO1D	myosin ID	gene	DOID:4362	cervical cancer		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111844	MYO1D	myosin ID	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111844	MYO1D	myosin ID	gene	DOID:5041	esophageal cancer		ISO	RGD:1349117	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12111844	MYO1D	myosin ID	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111844	MYO1D	myosin ID	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111844	MYO1D	myosin ID	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:0060227	Adams-Oliver syndrome		ISO	RGD:1602633	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome	PMID:25741868
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:10534	stomach cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1115	sarcoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1324	lung cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:1909	melanoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:3275	thymoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:4362	cervical cancer		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1602633	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:630	genetic disease		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9002329	Adams-Oliver Syndrome 4		ISO	RGD:1602633	D	RGD:7240710	20180130	OMIM			
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9002329	Adams-Oliver Syndrome 4		ISO	RGD:1602633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ADAMS-OLIVER SYNDROME 4 | ClinVar Annotator: match by term: Adams-Oliver syndrome 4 | ClinVar Annotator: match by term: EOGT-related condition	PMID:16199547|PMID:17576681|PMID:23522784|PMID:23860037|PMID:25488668|PMID:25741868|PMID:28492532|PMID:29924900|PMID:31368252|PMID:31654484|PMID:34782754|PMID:9536098
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12111876	EOGT	EGF domain specific O-linked N-acetylglucosamine transferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12111911	SLITRK3	SLIT and NTRK like family member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1321448	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12111911	SLITRK3	SLIT and NTRK like family member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12111911	SLITRK3	SLIT and NTRK like family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:0080600	COVID-19		ISO	RGD:1318331	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1318331	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:0080689	mosaic variegated aneuploidy syndrome 3		ISO	RGD:1318331	D	RGD:7240710	20190315	OMIM			
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:0080689	mosaic variegated aneuploidy syndrome 3		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 | ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 3 | ClinVar Annotator: match by term: TRIP13-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28553959|PMID:32473092|PMID:9536098
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:1115	sarcoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:2154	nephroblastoma		ISO	RGD:1318331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1318331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9006192	Oocyte/Zygote/Embryo Maturation Arrest 9		ISO	RGD:1318331	D	RGD:7240710	20200930	OMIM			
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9006192	Oocyte/Zygote/Embryo Maturation Arrest 9		ISO	RGD:1318331	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 9	PMID:25741868|PMID:28492532|PMID:29758562|PMID:32473092|PMID:35812326|PMID:37340965
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9008692	Aneuploidy		ISO	RGD:1318331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12111932	TRIP13	thyroid hormone receptor interactor 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111949	FAM180A	family with sequence similarity 180 member A	gene	DOID:289	endometriosis		ISO	RGD:1604688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12111949	FAM180A	family with sequence similarity 180 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1604688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111949	FAM180A	family with sequence similarity 180 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111949	FAM180A	family with sequence similarity 180 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12111956	SYPL2	synaptophysin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12111956	SYPL2	synaptophysin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111956	SYPL2	synaptophysin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111966	SELENOW	selenoprotein W	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111966	SELENOW	selenoprotein W	gene	DOID:1826	epilepsy		ISO	RGD:737006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19499324
12111966	SELENOW	selenoprotein W	gene	DOID:3275	thymoma		ISO	RGD:737006	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12111966	SELENOW	selenoprotein W	gene	DOID:4362	cervical cancer		ISO	RGD:737006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12111966	SELENOW	selenoprotein W	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12111966	SELENOW	selenoprotein W	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111966	SELENOW	selenoprotein W	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12111966	SELENOW	selenoprotein W	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12111976	GOLT1B	golgi transport 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111976	GOLT1B	golgi transport 1B	gene	DOID:1115	sarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12111976	GOLT1B	golgi transport 1B	gene	DOID:1324	lung cancer		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12111976	GOLT1B	golgi transport 1B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12111976	GOLT1B	golgi transport 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12111976	GOLT1B	golgi transport 1B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12111976	GOLT1B	golgi transport 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12111976	GOLT1B	golgi transport 1B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349948	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12111985	BEX3	brain expressed X-linked 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12111985	BEX3	brain expressed X-linked 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12111985	BEX3	brain expressed X-linked 3	gene	DOID:1686	glaucoma		ISO	RGD:3148	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:19682984|REF_RGD_ID:9743977
12111985	BEX3	brain expressed X-linked 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3148	D	RGD:9068941	20200609	RGD			PMID:11124986|REF_RGD_ID:9743974
12111985	BEX3	brain expressed X-linked 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12111985	BEX3	brain expressed X-linked 3	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:3148	D	RGD:9068941	20241114	RGD			PMID:12873743|REF_RGD_ID:9743975
12111994	DEFB134	defensin beta 134	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:2302256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:32748548
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:10534	stomach cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:1324	lung cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:1909	melanoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:3070	high grade glioma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:4362	cervical cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112002	ECPAS	Ecm29 proteasome adaptor and scaffold	gene	DOID:9256	colorectal cancer		ISO	RGD:1314598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12112056	TMEM267	transmembrane protein 267	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112076	TMEM9	transmembrane protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112076	TMEM9	transmembrane protein 9	gene	DOID:10534	stomach cancer		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112076	TMEM9	transmembrane protein 9	gene	DOID:1909	melanoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112076	TMEM9	transmembrane protein 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112076	TMEM9	transmembrane protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317397	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112092	TMEM104	transmembrane protein 104	gene	DOID:1115	sarcoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:1909	melanoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1606542	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12112092	TMEM104	transmembrane protein 104	gene	DOID:4362	cervical cancer		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112092	TMEM104	transmembrane protein 104	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112092	TMEM104	transmembrane protein 104	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112092	TMEM104	transmembrane protein 104	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606542	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112186	RNASE9	ribonuclease A family member 9 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112192	TMEM258	transmembrane protein 258	gene	DOID:5041	esophageal cancer		ISO	RGD:1351820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112192	TMEM258	transmembrane protein 258	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112192	TMEM258	transmembrane protein 258	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316959	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12112200	SYTL2	synaptotagmin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316959	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:1324	lung cancer		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:1558	angioedema		ISO	RGD:1316959	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:28327206
12112200	SYTL2	synaptotagmin like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:3275	thymoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1316959	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112200	SYTL2	synaptotagmin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316959	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112250	LOC100683646	EKC/KEOPS complex subunit LAGE3-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112250	LOC100683646	EKC/KEOPS complex subunit LAGE3-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112250	LOC100683646	EKC/KEOPS complex subunit LAGE3-like	gene	DOID:1324	lung cancer		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112250	LOC100683646	EKC/KEOPS complex subunit LAGE3-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112270	PNLIPRP1	pancreatic lipase related protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:732485	D	RGD:9068941	20200609	RGD			PMID:11384102|REF_RGD_ID:2302990
12112270	PNLIPRP1	pancreatic lipase related protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:0040047	trimellitic anhydride allergic asthma		ISO	RGD:1552559	D	RGD:9068941	20260507	RGD		mRNA, protein:increased expression:lung	PMID:30716586|REF_RGD_ID:645122515
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:0070355	overactive bladder syndrome	treatment	ISO	RGD:628841	D	RGD:9068941	20250703	RGD			PMID:26627190|REF_RGD_ID:616940248
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:0080819	environmentally induced asthma		ISO	RGD:1552559	D	RGD:9068941	20260507	RGD		associated with Experimental Allergic Asthma;protein:increased expression:lung	PMID:28102732|REF_RGD_ID:645233558
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:0080819	environmentally induced asthma	treatment	ISO	RGD:1552559	D	RGD:9068941	20260409	RGD			PMID:31281589|REF_RGD_ID:645122514
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:10534	stomach cancer		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:628841	D	RGD:9068941	20250419	RGD			PMID:15125461|REF_RGD_ID:598136405
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:1115	sarcoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:628841	D	RGD:9068941	20250626	RGD		mRNA, protein:decreased expression:dorsal root ganglion, neuron	PMID:22108615|REF_RGD_ID:616926614
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:628841	D	RGD:9068941	20250703	RGD			PMID:15837818|PMID:29768956|REF_RGD_ID:598147061|REF_RGD_ID:616938436
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:11963	esophagitis		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16091555
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:12323	cough variant asthma	treatment	ISO	RGD:1552559	D	RGD:9068941	20260409	RGD			PMID:32890712|REF_RGD_ID:645122513
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21349818
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:1936	atherosclerosis		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21908651
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:2548	reflex epilepsy	treatment	ISO	RGD:628841	D	RGD:9068941	20200618	RGD			PMID:29105300|REF_RGD_ID:13450923
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1552559	D	RGD:9068941	20260430	RGD			PMID:35928613|REF_RGD_ID:645233557
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:3275	thymoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20144892
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1552559	D	RGD:9068941	20250424	RGD		protein:decreased expression:lung	PMID:27436516|REF_RGD_ID:598147060
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:4029	gastritis		ISO	RGD:628841	D	RGD:9068941	20260409	RGD		mRNA, protein:altered expression:stomach	PMID:32764237|REF_RGD_ID:645122567
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:4362	cervical cancer		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:4989	pancreatitis		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17698068
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:5844	myocardial infarction		ISO	RGD:628841	D	RGD:9068941	20200609	RGD			PMID:27671317|REF_RGD_ID:13792689
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:6050	esophageal disease		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19566590
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:6364	migraine		ISO	RGD:733197	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.IVS2+2841C>T rs222741 (human)	PMID:22162417|REF_RGD_ID:7175557
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1552559	D	RGD:9068941	20250417	RGD		mRNA:increased expression:frontal cortex	PMID:20122992|REF_RGD_ID:598130087
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:628841	D	RGD:9068941	20250417	RGD			PMID:31437433|REF_RGD_ID:598130084
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:8545	malignant hyperthermia		ISO	RGD:733197	D	RGD:8554872	20230613	ClinVar		ClinVar Annotator: match by term: Malignant hyperthermia of anesthesia	PMID:25741868
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9000099	Experimental Colitis		ISO	RGD:628841	D	RGD:9068941	20250419	RGD		protein:increased expression:dorsal root ganglion	PMID:28587873|REF_RGD_ID:598136407
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9000133	Sneezing		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27545873
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9000641	Pain		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16996476|PMID:17575321|PMID:20422007|PMID:23006841
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9000641	Pain	treatment	ISO	RGD:628841	D	RGD:9068941	20250313	RGD			PMID:22998799|REF_RGD_ID:597976450
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9001048	Nociceptive Pain		ISO	RGD:628841	D	RGD:9068941	20260409	RGD		associated with Experimental Colitis	PMID:23099257|REF_RGD_ID:10043788
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9001103	Heat Stress Disorders		ISO	RGD:1552559	D	RGD:9068941	20250419	RGD		protein:increased expression:brain	PMID:32661579|REF_RGD_ID:598136406
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043671
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:628841	D	RGD:9068941	20200609	RGD		associated with inflammation;protein:increased expression:dorsal root ganglion:	PMID:21958434|REF_RGD_ID:8657122
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12151517|PMID:18234885|PMID:18774343|PMID:23006841
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:628841	D	RGD:9068941	20250703	RGD			PMID:15615864|PMID:15837818|PMID:16420034|PMID:18029293|REF_RGD_ID:598136408|REF_RGD_ID:598147061|REF_RGD_ID:616926611|REF_RGD_ID:616939013
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1552559	D	RGD:9068941	20260409	RGD		mRNA, protein:increased expression:lung	PMID:30716586|REF_RGD_ID:645122515
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:1552559	D	RGD:9068941	20260430	RGD		protein:increased expression:lung	PMID:28102732|PMID:38759746|REF_RGD_ID:645233558|REF_RGD_ID:645233563
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:1552559	D	RGD:9068941	20260409	RGD			PMID:30836174|REF_RGD_ID:645122516
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002283	Experimental Allergic Asthma	treatment	ISO	RGD:628841	D	RGD:9068941	20250626	RGD			PMID:27255083|REF_RGD_ID:616926613
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002395	Hypothermia		ISO	RGD:628841	D	RGD:9068941	20250703	RGD			PMID:15950380|REF_RGD_ID:616940249
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9002735	alcohol withdrawal syndrome	treatment	ISO	RGD:628841	D	RGD:9068941	20250313	RGD			PMID:30676422|REF_RGD_ID:597976449
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9003181	Heartburn		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19566590
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:628841	D	RGD:9068941	20250424	RGD			PMID:15837818|REF_RGD_ID:598147061
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1552559	D	RGD:9068941	20260430	RGD			PMID:32388008|REF_RGD_ID:640480063
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9004992	Apnea	treatment	ISO	RGD:628841	D	RGD:9068941	20260409	RGD			PMID:23384628|REF_RGD_ID:645122518
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:628841	D	RGD:9068941	20250417	RGD			PMID:31998461|REF_RGD_ID:598130089
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9005372	Inflammation		ISO	RGD:628841	D	RGD:9068941	20200609	RGD		protein:increased expression:hindpaw:	PMID:21958434|REF_RGD_ID:8657122
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9005372	Inflammation		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17575321|PMID:20712533
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9006741	Acute Hepatitis	treatment	ISO	RGD:1552559	D	RGD:9068941	20250419	RGD		associated with Chemical and Drug Induced Liver Injury	PMID:31217872|REF_RGD_ID:598136404
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9007073	Cough		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27545873
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1552559	D	RGD:9068941	20260507	RGD			PMID:38224794|REF_RGD_ID:645233561
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1552559	D	RGD:9068941	20260507	RGD		associated with respiratory syncytial virus infectious disease	PMID:39306207|REF_RGD_ID:645233579
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:1552559	D	RGD:9068941	20260521	RGD		associated with eosinophilic bronchitis	PMID:34099759|REF_RGD_ID:730441501
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:733197	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32751388
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9009329	Cannabinoid Hyperemesis Syndrome		ISO	RGD:733197	D	RGD:9068941	20250424	RGD		DNA:SNP:downstream gene variant:rs879207	PMID:34227878|REF_RGD_ID:598130082
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9009329	Cannabinoid Hyperemesis Syndrome	no_association	ISO	RGD:733197	D	RGD:9068941	20250424	RGD		DNA:SNP:intron:rs11655540	PMID:34227878|REF_RGD_ID:598130082
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:628841	D	RGD:9068941	20250626	RGD		protein:increased homopolymerization, increased phosphorylation, increased localization:plasma membrane	PMID:15513920|REF_RGD_ID:616926616
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9970	obesity		ISO	RGD:733197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17347480
12112287	TRPV1	transient receptor potential cation channel subfamily V member 1	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:628841	D	RGD:9068941	20250417	RGD			PMID:22325096|REF_RGD_ID:598130085
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1605404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:10534	stomach cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:1324	lung cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:3275	thymoma		ISO	RGD:1605404	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:4362	cervical cancer		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1605404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112315	SNRNP27	small nuclear ribonucleoprotein U4/U6.U5 subunit 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:0060180	colitis	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:23840258|REF_RGD_ID:13792680
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5		ISO	RGD:1353040	D	RGD:7240710	20190315	OMIM			
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:0070463	mitochondrial complex V (ATP synthase) deficiency nuclear type 5		ISO	RGD:1353040	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: ATP5F1D-related condition | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5	PMID:25741868|PMID:28492532|PMID:29478781
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1353040	D	RGD:9068941	20200609	RGD			PMID:28474567|REF_RGD_ID:13792588
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:5844	myocardial infarction		ISO	RGD:621372	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium (rat)	PMID:29300489|REF_RGD_ID:13792656
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:23809007|REF_RGD_ID:13792681
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:630	genetic disease		ISO	RGD:1353040	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9000815	Aortic Calcification	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD		associated with Hypercholesterolemia	PMID:26047104|REF_RGD_ID:11057945
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:25880160|REF_RGD_ID:13792672
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:25738576|REF_RGD_ID:13792675
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:24232000|REF_RGD_ID:13792678
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621372	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium (rat)	PMID:25305180|REF_RGD_ID:13792676
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:26109848|REF_RGD_ID:13792666
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9970	obesity	treatment	ISO	RGD:621372	D	RGD:9068941	20200609	RGD			PMID:27874268|REF_RGD_ID:13792665
12112325	ATP5F1D	ATP synthase F1 subunit delta	gene	DOID:9993	hypoglycemia		ISO	RGD:1353040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:29478781
12112333	GLG1	golgi glycoprotein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:10534	stomach cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:1115	sarcoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:1324	lung cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:3275	thymoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:4362	cervical cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734388	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112333	GLG1	golgi glycoprotein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:734388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319844	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:0070408	Hengel-Maroofian-Schols syndrome		ISO	RGD:1319844	D	RGD:7240710	20220209	OMIM			
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:0070408	Hengel-Maroofian-Schols syndrome		ISO	RGD:1319844	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HENGEL-MAROOFIAN-SCHOLS SYNDROME | ClinVar Annotator: match by term: Hengel-Maroofian-Schols syndrome	PMID:25741868
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:10534	stomach cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:1115	sarcoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:1324	lung cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:1612	breast cancer		ISO	RGD:1319844	D	RGD:9068941	20200609	RGD			PMID:16855396|REF_RGD_ID:2317828
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:1909	melanoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:4362	cervical cancer		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:630	genetic disease		ISO	RGD:1319844	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319844	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: global developmental delay	
12112363	BCAS3	BCAS3 microtubule associated cell migration factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:0060058	lymphoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:1324	lung cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:3275	thymoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:730928	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112408	SLC24A2	solute carrier family 24 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112426	SHB	SH2 domain containing adaptor protein B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112426	SHB	SH2 domain containing adaptor protein B	gene	DOID:1324	lung cancer		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112426	SHB	SH2 domain containing adaptor protein B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112426	SHB	SH2 domain containing adaptor protein B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:1909	melanoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:3275	thymoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12112440	CNTNAP5	contactin associated protein family member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313519	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112489	VILL	villin like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112489	VILL	villin like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112489	VILL	villin like	gene	DOID:10534	stomach cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112489	VILL	villin like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112489	VILL	villin like	gene	DOID:1115	sarcoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112489	VILL	villin like	gene	DOID:1909	melanoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112489	VILL	villin like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12112489	VILL	villin like	gene	DOID:2394	ovarian cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12112489	VILL	villin like	gene	DOID:3275	thymoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112489	VILL	villin like	gene	DOID:4362	cervical cancer		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112489	VILL	villin like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347824	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112489	VILL	villin like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12112489	VILL	villin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112489	VILL	villin like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12112489	VILL	villin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112489	VILL	villin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112489	VILL	villin like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:1115	sarcoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:1324	lung cancer		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:1909	melanoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:1320814	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112521	HNF4G	hepatocyte nuclear factor 4 gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:40814602
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:0111127	nephronophthisis 20		ISO	RGD:1604640	D	RGD:7240710	20190315	OMIM			
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:0111127	nephronophthisis 20		ISO	RGD:1604640	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: MAPKBP1-related condition | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 20 | ClinVar Annotator: match by term: Nephronophthisis 20 | ClinVar Annotator: match by term: nephronophthisis 20	PMID:25741868|PMID:28089251|PMID:28492532|PMID:32055034
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604640	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604640	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112541	MAPKBP1	mitogen-activated protein kinase binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112585	CRYGD	crystallin, gamma D	gene	DOID:0110234	cataract 4 multiple types		ISO	RGD:735833	D	RGD:7240710	20180130	OMIM			
12112585	CRYGD	crystallin, gamma D	gene	DOID:0110235	cataract 2 multiple types		ISO	RGD:10409	D	RGD:9068941	20220825	MouseDO		OMIM:604307	
12112585	CRYGD	crystallin, gamma D	gene	DOID:0110260	cataract 7	susceptibility	ISO	RGD:735833	D	RGD:9068941	20200609	RGD		DNA:transversion:exon:p.P23T (human)	PMID:12676897|REF_RGD_ID:1601016
12112585	CRYGD	crystallin, gamma D	gene	DOID:83	cataract		ISO	RGD:735833	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:30242128|PMID:9927684
12112585	CRYGD	crystallin, gamma D	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:1909	melanoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:2661	myoepithelioma		ISO	RGD:1606243	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:3275	thymoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1606243	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12112596	TANGO6	transport and golgi organization 6 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1606243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12112630	CDIP1	cell death inducing p53 target 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112630	CDIP1	cell death inducing p53 target 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112630	CDIP1	cell death inducing p53 target 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112630	CDIP1	cell death inducing p53 target 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112630	CDIP1	cell death inducing p53 target 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1601881	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:1324	lung cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:1909	melanoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1601881	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112650	CLUH	clustered mitochondria homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112694	ARMCX3	armadillo repeat containing X-linked 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112694	ARMCX3	armadillo repeat containing X-linked 3	gene	DOID:1909	melanoma		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112694	ARMCX3	armadillo repeat containing X-linked 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112707	NKAP	NFKB activating protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112707	NKAP	NFKB activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112707	NKAP	NFKB activating protein	gene	DOID:1115	sarcoma		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112707	NKAP	NFKB activating protein	gene	DOID:1324	lung cancer		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112707	NKAP	NFKB activating protein	gene	DOID:630	genetic disease		ISO	RGD:1606506	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:31587868
12112707	NKAP	NFKB activating protein	gene	DOID:9001354	DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY		ISO	RGD:1606506	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy	PMID:25741868
12112707	NKAP	NFKB activating protein	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1606506	D	RGD:9068941	20221110	RGD		DNA:missense mutations:exon 8-9:multiple (human)	PMID:31587868|REF_RGD_ID:155641252
12112707	NKAP	NFKB activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112707	NKAP	NFKB activating protein	gene	DOID:9007858	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE		ISO	RGD:1606506	D	RGD:7240710	20200722	OMIM			
12112707	NKAP	NFKB activating protein	gene	DOID:9007858	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE		ISO	RGD:1606506	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type	PMID:25741868|PMID:30544257|PMID:31587868
12112707	NKAP	NFKB activating protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606506	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12112707	NKAP	NFKB activating protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:0050668	alcohol-related birth defects		ISO	RGD:1346816	D	RGD:9068941	20250306	RGD		associated with cleft lip; DNA:SNP: :rs2294035, rs4876274	PMID:31372216|REF_RGD_ID:597830081
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1623777	D	RGD:9068941	20220825	MouseDO			
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:10534	stomach cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1346816	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10319589|PMID:24627108|PMID:25025039|PMID:25741868|PMID:28492532
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:1324	lung cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:1909	melanoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:3275	thymoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:4362	cervical cancer		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1346816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		IAGP		D	RGD:12801476	20250113	OMIA		Polyneuropathy, ARHGEF10-related	PMID:12661049|PMID:20638305|PMID:25275565|PMID:21985135|PMID:38003185
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		ISO	RGD:1346816	D	RGD:7240710	20180130	OMIM			
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:9002402	Slowed Nerve Conduction Velocity, Autosomal Dominant		ISO	RGD:1346816	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARHGEF10-related condition | ClinVar Annotator: match by term: Autosomal dominant slowed nerve conduction velocity | ClinVar Annotator: match by term: Slowed nerve conduction velocity, autosomal dominant | ClinVar Annotator: match by term: autosomal dominant slowed nerve conduction velocity	PMID:10319589|PMID:25025039|PMID:25164601|PMID:25741868|PMID:28492532|PMID:29653320
12112722	ARHGEF10	Rho guanine nucleotide exchange factor 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112763	FAM83C	family with sequence similarity 83 member C	gene	DOID:10283	prostate cancer		ISO	RGD:1344185	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12112763	FAM83C	family with sequence similarity 83 member C	gene	DOID:10283	prostate cancer		ISO	RGD:1344185	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12112763	FAM83C	family with sequence similarity 83 member C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12112763	FAM83C	family with sequence similarity 83 member C	gene	DOID:5041	esophageal cancer		ISO	RGD:1344185	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:0080685	aortic dissection		ISO	RGD:1353187	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ascending aortic dissection	PMID:34409081
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353187	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621782	D	RGD:9068941	20210514	RGD		compared to Wild Type in cardiopulmonary bypass model	PMID:32048631|REF_RGD_ID:126925167
12112775	IL1RL2	interleukin 1 receptor like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050581	brachydactyly		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050591	tooth agenesis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0060249	scoliosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:7240710	20180130	OMIM			
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0110540	autosomal recessive nonsyndromic deafness 98		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 98	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30046887
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111428	essential tremor 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:7240710	20190315	OMIM			
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:0111662	ectodermal dysplasia 14		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE, WITH HYPOHIDROSIS | ClinVar Annotator: match by term: Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30046887|PMID:30544257|PMID:32112661|PMID:34042254|PMID:34556655|PMID:37009414|PMID:39333051|PMID:41163957
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:11155	hypohidrosis		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:11156	anhidrosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anhidrosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:12450	pancytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1283	enterocele		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1588	thrombocytopenia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1826	epilepsy		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:1909	melanoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:24033266|PMID:25741868|PMID:25855803|PMID:26467025|PMID:27736875|PMID:28409725|PMID:28492532|PMID:29144512|PMID:30046887|PMID:33144682|PMID:34042254|PMID:35741818|PMID:37009414|PMID:37853563|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:2841	asthma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:4535	hypotrichosis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:543	dystonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:630	genetic disease		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:8927	learning disability		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9001031	Retrognathia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:7240710	20230104	OMIM			
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003044	Selective Tooth Agenesis 10		ISO	RGD:1344496	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 10 | ClinVar Annotator: match by term: Tooth agenesis, selective, 10	PMID:22678063|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27736875|PMID:28492532|PMID:30046887|PMID:30544257|PMID:32112661|PMID:34042254|PMID:37009414|PMID:41163957
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9003098	Taurodontism		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Taurodontism	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9006617	Fatigue		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9007661	Dwarfism		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008421	Epistaxis		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:22678063|PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:30544257|PMID:32112661|PMID:34042254
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9008675	Dyskinesias		ISO	RGD:1344496	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:24033266|PMID:25741868|PMID:27736875|PMID:28492532|PMID:34042254|PMID:37009414|PMID:39333051
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:93	language disorder		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:24033266|PMID:25741868|PMID:28492532
12112801	TSPEAR	thrombospondin type laminin G domain and EAR repeats	gene	DOID:9840	esotropia		ISO	RGD:1344496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Usher syndrome	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:0060058	lymphoma		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:0110490	autosomal recessive nonsyndromic deafness 31		ISO	RGD:1349509	D	RGD:7240710	20180130	OMIM			
12112810	WHRN	whirlin	gene	DOID:0110490	autosomal recessive nonsyndromic deafness 31		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 31 | ClinVar Annotator: match by term: Deafness, autosomal recessive 31 | ClinVar Annotator: match by term: WHIRLER, MOUSE, HOMOLOG OF | ClinVar Annotator: match by term: WHRN-related condition	PMID:12833159|PMID:15841483|PMID:20352026|PMID:21569298|PMID:22135276|PMID:22147658|PMID:22277662|PMID:23804846|PMID:24033266|PMID:25133751|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30245029|PMID:30311386|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:0110829	retinitis pigmentosa-deafness syndrome		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa-deafness syndrome	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:0110840	Usher syndrome type 2D		ISO	RGD:1349509	D	RGD:7240710	20180130	OMIM			
12112810	WHRN	whirlin	gene	DOID:0110840	Usher syndrome type 2D		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IID | ClinVar Annotator: match by term: Usher syndrome type 2D	PMID:12833159|PMID:15841483|PMID:17576681|PMID:20352026|PMID:21569298|PMID:21654738|PMID:22135276|PMID:22147658|PMID:22277662|PMID:23804846|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26969326|PMID:28492532|PMID:30245029|PMID:30311386|PMID:32483926|PMID:35114279|PMID:9536098
12112810	WHRN	whirlin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:1115	sarcoma		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:11830	myopia		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:1596	depressive disorder		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:2394	ovarian cancer		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:2841	asthma		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:3275	thymoma		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12112810	WHRN	whirlin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:5723	optic atrophy		ISO	RGD:1349509	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349509	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:24033266|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:6039	uveal melanoma		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:630	genetic disease		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12112810	WHRN	whirlin	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:7998	hyperthyroidism		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20352026|PMID:22277662|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27208204|PMID:28492532|PMID:30245029
12112810	WHRN	whirlin	gene	DOID:9003507	Premature Birth		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112810	WHRN	whirlin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:12833159|PMID:15841483|PMID:20352026|PMID:22135276|PMID:22147658|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:31541171
12112810	WHRN	whirlin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112810	WHRN	whirlin	gene	DOID:9008681	Deafness		ISO	RGD:1349509	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
12112810	WHRN	whirlin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12112810	WHRN	whirlin	gene	DOID:9256	colorectal cancer		ISO	RGD:1349509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:24033266|PMID:25741868|PMID:28492532
12112810	WHRN	whirlin	gene	DOID:9970	obesity		ISO	RGD:1349509	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:21569298|PMID:23804846|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30245029|PMID:32483926
12112841	TMED3	transmembrane p24 trafficking protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12112841	TMED3	transmembrane p24 trafficking protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12112841	TMED3	transmembrane p24 trafficking protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112849	CTXN2	cortexin 2	gene	DOID:1115	sarcoma		ISO	RGD:1351200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112849	CTXN2	cortexin 2	gene	DOID:3275	thymoma		ISO	RGD:1351200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112849	CTXN2	cortexin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12112864	HBM	hemoglobin subunit mu	gene	DOID:1115	sarcoma		ISO	RGD:1348198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112877	ZNF391	zinc finger protein 391	gene	DOID:10534	stomach cancer		ISO	RGD:1606101	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12112877	ZNF391	zinc finger protein 391	gene	DOID:1324	lung cancer		ISO	RGD:1606101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112877	ZNF391	zinc finger protein 391	gene	DOID:3275	thymoma		ISO	RGD:1606101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12112877	ZNF391	zinc finger protein 391	gene	DOID:5041	esophageal cancer		ISO	RGD:1606101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112877	ZNF391	zinc finger protein 391	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0050073	invasive aspergillosis		ISO	RGD:1624045	D	RGD:9068941	20200609	RGD			PMID:24054721|REF_RGD_ID:10450528
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD			PMID:10581030|REF_RGD_ID:1598891
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		DNA:mutation:intron:c.597+1G>A (human)	PMID:24616599|REF_RGD_ID:10450514
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:21425445|REF_RGD_ID:10450519
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:myeloid CD33+ cell:	PMID:19620402|REF_RGD_ID:10450525
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0080178	mucositis		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:9823937|REF_RGD_ID:10450554
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0080600	COVID-19		ISO	RGD:1317469	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1317469	D	RGD:7240710	20180130	OMIM			
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0080625	severe congenital neutropenia 1		ISO	RGD:1317469	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant	PMID:10581030|PMID:11001877|PMID:11278653|PMID:11675333|PMID:11722436|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16670064|PMID:16986121|PMID:17391497|PMID:17576681|PMID:17761833|PMID:18043239|PMID:19036076|PMID:19775295|PMID:20049848|PMID:20301705|PMID:21072829|PMID:21425445|PMID:22510773|PMID:23463630|PMID:24033266|PMID:24184683|PMID:24523240|PMID:24616599|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28073911|PMID:28492532|PMID:28881492|PMID:30040071|PMID:30171085|PMID:30386760|PMID:31248972|PMID:31321910|PMID:31658467|PMID:31839986|PMID:31992846|PMID:3229910|PMID:32581362|PMID:32883808|PMID:33318085|PMID:33942430|PMID:33968054|PMID:34000087|PMID:34340247|PMID:34573280|PMID:35047849|PMID:35482138|PMID:35525891|PMID:37216690|PMID:39052144|PMID:9536098
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0112128	X-linked severe congenital neutropenia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked severe congenital neutropenia	PMID:17576681|PMID:24033266|PMID:28492532|PMID:9536098
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:0112130	autosomal dominant severe congenital neutropenia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant severe congenital neutropenia | ClinVar Annotator: match by term: Severe congenital neutropenia autosomal dominant	PMID:17053055|PMID:20301705|PMID:23463630|PMID:25741868|PMID:28492532|PMID:33513358|PMID:34340247
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:10247	pleurisy		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:20860667|REF_RGD_ID:10450565
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:1115	sarcoma		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		associated with Multiple Organ Failure, Craniocerebral Trauma;protein:increased expression:plasma:	PMID:10912863|REF_RGD_ID:10450545
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:20655560|REF_RGD_ID:10450544
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:1227	neutropenia		ISO	RGD:1317469	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:10581030|PMID:11001877|PMID:11722436|PMID:17576681|PMID:20049848|PMID:21425445|PMID:23463630|PMID:25741868|PMID:28492532|PMID:30040071|PMID:32581362|PMID:34340247|PMID:9536098
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:14115	toxic shock syndrome	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:18323746|REF_RGD_ID:10450579
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2224	essential thrombocythemia		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:18768782|REF_RGD_ID:10450556
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:19168036|REF_RGD_ID:10450558
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2562	suppurative periapical periodontitis		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD		protein:increased expression:neutrophil:	PMID:19913217|REF_RGD_ID:10450566
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2921	glomerulonephritis		ISO	RGD:1624045	D	RGD:9068941	20200609	RGD			PMID:19752320|REF_RGD_ID:6907051
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:27854218|PMID:28492532
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:10581030|PMID:11675333|PMID:19036076|PMID:23463630|PMID:25427142|PMID:25703294|PMID:25741868|PMID:28492532|PMID:35047849
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:25741868|PMID:28492532|PMID:35047849
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:10700596|REF_RGD_ID:10450546
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:19995276|REF_RGD_ID:10450562
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:7240710	20180130	OMIM			
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:5339	cyclic hematopoiesis		ISO	RGD:1317469	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CYCLIC NEUTROPENIA | ClinVar Annotator: match by term: Cyclic hematopoiesis | ClinVar Annotator: match by term: Cyclical neutropenia	PMID:10581030|PMID:11001877|PMID:11675333|PMID:11722436|PMID:14962902|PMID:15657182|PMID:16079102|PMID:16199547|PMID:16986121|PMID:17053055|PMID:17436313|PMID:17576681|PMID:17761833|PMID:18611981|PMID:18703682|PMID:19036076|PMID:19415009|PMID:19775295|PMID:20049848|PMID:20301705|PMID:20803142|PMID:21425445|PMID:22148006|PMID:22510773|PMID:22624626|PMID:23206890|PMID:23382209|PMID:23463630|PMID:24033266|PMID:24184683|PMID:24616599|PMID:25162927|PMID:25427142|PMID:25703294|PMID:25705433|PMID:25741868|PMID:25912133|PMID:28073911|PMID:28492532|PMID:28881492|PMID:29517659|PMID:30040071|PMID:30171085|PMID:30273710|PMID:30386760|PMID:30630937|PMID:30635825|PMID:31009763|PMID:31176364|PMID:3124897|PMID:31248972|PMID:31321910|PMID:31574885|PMID:31965297|PMID:31992846|PMID:3229910|PMID:32581362|PMID:32883808|PMID:33179225|PMID:33225392|PMID:33411156|PMID:33471934|PMID:33513358|PMID:33968054|PMID:34000087|PMID:34340247|PMID:34573280|PMID:35047849|PMID:35482138|PMID:35525891|PMID:35753512|PMID:36734404|PMID:37216690|PMID:39052144|PMID:9536098
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:630	genetic disease		ISO	RGD:1317469	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:7427	anthrax disease		ISO	RGD:1624045	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:19049643|REF_RGD_ID:10450550
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:824	periodontitis	susceptibility	ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		associated with Severe Congenital Neutropenia;DNA:mutations: :	PMID:21796505|REF_RGD_ID:10450515
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:8997	polycythemia vera		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:12186827|REF_RGD_ID:10450557
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:8997	polycythemia vera		ISO	RGD:1317469	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:18768782|REF_RGD_ID:10450556
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9000197	Edema	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:20860667|REF_RGD_ID:10450565
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:1624045	D	RGD:9068941	20200609	RGD			PMID:18276796|REF_RGD_ID:10450549
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9001553	Spinal Cord Compression	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:9675307|REF_RGD_ID:10450552
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:10588515|REF_RGD_ID:10450560
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9003202	Pulmonary Hemorrhage		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Experimental, sepsis;	PMID:7587785|REF_RGD_ID:10450559
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004237	Hyperoxic Lung Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:11104832|REF_RGD_ID:10450581
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004347	Skeletal Muscle Reperfusion Injury		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:7858993|REF_RGD_ID:10450555
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004484	Sepsis		ISO	RGD:1624045	D	RGD:9068941	20200609	RGD		associated with Klebsiella Infections;	PMID:9585238|REF_RGD_ID:10450543
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD		protein:increased expression:perfusate:	PMID:18283562|REF_RGD_ID:10450585
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:15257085|REF_RGD_ID:10450548
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD		associated with Shock, Hemorrhagic;	PMID:17203197|REF_RGD_ID:10450587
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9005932	Urinary Bladder Reperfusion Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:18165924|REF_RGD_ID:10450583
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:16980042|REF_RGD_ID:10450580
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9006263	Experimental Pancreatitis	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:18486906|REF_RGD_ID:10450567
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9006827	Lung Reperfusion Injury	treatment	ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:17888675|REF_RGD_ID:10450582
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112959	ELANE	elastase, neutrophil expressed	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1307968	D	RGD:9068941	20200609	RGD			PMID:12186827|REF_RGD_ID:10450557
12112968	TGM3	transglutaminase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112968	TGM3	transglutaminase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112968	TGM3	transglutaminase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12112968	TGM3	transglutaminase 3	gene	DOID:9001368	Uncombable Hair Syndrome 2		ISO	RGD:1343492	D	RGD:7240710	20190315	OMIM			
12112968	TGM3	transglutaminase 3	gene	DOID:9001368	Uncombable Hair Syndrome 2		ISO	RGD:1343492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TGM3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 2	PMID:28492532
12112968	TGM3	transglutaminase 3	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:1343492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12112968	TGM3	transglutaminase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112968	TGM3	transglutaminase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12112968	TGM3	transglutaminase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12112985	HID1	HID1 domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12112985	HID1	HID1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12112985	HID1	HID1 domain containing	gene	DOID:0070391	developmental and epileptic encephalopathy 105		ISO	RGD:1322878	D	RGD:7240710	20220810	OMIM			
12112985	HID1	HID1 domain containing	gene	DOID:0070391	developmental and epileptic encephalopathy 105		ISO	RGD:1322878	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 105 WITH HYPOPITUITARISM | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 105 with hypopituitarism	PMID:25741868
12112985	HID1	HID1 domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12112985	HID1	HID1 domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12112985	HID1	HID1 domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1322878	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12112985	HID1	HID1 domain containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12112985	HID1	HID1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12112985	HID1	HID1 domain containing	gene	DOID:630	genetic disease		ISO	RGD:1322878	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28600779
12112985	HID1	HID1 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12112985	HID1	HID1 domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113007	SLC8B1	solute carrier family 8 member B1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1565818	D	RGD:9068941	20200609	RGD			PMID:23564126|REF_RGD_ID:9685494
12113038	STX4	syntaxin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113038	STX4	syntaxin 4	gene	DOID:0070670	autosomal recessive nonsyndromic deafness 123		ISO	RGD:731468	D	RGD:7240710	20240320	OMIM			
12113038	STX4	syntaxin 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731468	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:30311386
12113038	STX4	syntaxin 4	gene	DOID:10534	stomach cancer		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113038	STX4	syntaxin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113038	STX4	syntaxin 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113038	STX4	syntaxin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12113038	STX4	syntaxin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:731468	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113038	STX4	syntaxin 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731469	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12113038	STX4	syntaxin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113053	PRDM15	PR/SET domain 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:0060058	lymphoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:1115	sarcoma		ISO	RGD:1320736	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:1324	lung cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113053	PRDM15	PR/SET domain 15	gene	DOID:1909	melanoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:3070	high grade glioma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113053	PRDM15	PR/SET domain 15	gene	DOID:3275	thymoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:4362	cervical cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113053	PRDM15	PR/SET domain 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12113053	PRDM15	PR/SET domain 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1320736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113053	PRDM15	PR/SET domain 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113053	PRDM15	PR/SET domain 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12113053	PRDM15	PR/SET domain 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113053	PRDM15	PR/SET domain 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113053	PRDM15	PR/SET domain 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0061024	nonphotosensitive trichothiodystrophy 9		ISO	RGD:1313280	D	RGD:7240710	20220112	OMIM			
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0061024	nonphotosensitive trichothiodystrophy 9		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy 9, nonphotosensitive	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0070454	hereditary spastic paraplegia 70		ISO	RGD:1313280	D	RGD:7240710	20230505	OMIM			
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0070454	hereditary spastic paraplegia 70		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 70, AUTOSOMAL RECESSIVE	PMID:25741868|PMID:28492532|PMID:34585293
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1313280	D	RGD:7240710	20180130	OMIM			
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23729695|PMID:24103465|PMID:24482476|PMID:25640679|PMID:25741868|PMID:25913036|PMID:28492532|PMID:28708278|PMID:29582526|PMID:29775242|PMID:29875423|PMID:30723866|PMID:31356216|PMID:32376792|PMID:32833345|PMID:34169998|PMID:34298581|PMID:34496286|PMID:34813128|PMID:34983064|PMID:35723632|PMID:36738734|PMID:37976411|PMID:9536098
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313280	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:23729695|PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29655802|PMID:31356216|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:23729695|PMID:24103465|PMID:25741868|PMID:28492532|PMID:29655802|PMID:32376792|PMID:36413997
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:1115	sarcoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1313280	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pulmonary alveolar proteinosis	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1313280	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:1324	lung cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:1596	depressive disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:3087	gingivitis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:3275	thymoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:480	movement disease		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:824	periodontitis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1313280	D	RGD:7240710	20181114	OMIM			
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTERSTITIAL LUNG AND LIVER DISEASE | ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND	PMID:24103465|PMID:25741868|PMID:25913036|PMID:28492532|PMID:29582526|PMID:29775242|PMID:30723866|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:24103465|PMID:25741868|PMID:28492532|PMID:32376792
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12113099	MARS1	methionyl-tRNA synthetase 1	gene	DOID:9834	hyperopia		ISO	RGD:1313280	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113124	SUGP1	SURP and G-patch domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:10534	stomach cancer		ISO	RGD:733348	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:13189	gout		ISO	RGD:733348	D	RGD:9068941	20200609	RGD			PMID:28252667|REF_RGD_ID:13831120
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:13189	gout		ISO	RGD:733348	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10821905 (human)	PMID:28679452|REF_RGD_ID:13831119
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:1612	breast cancer		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733348	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113142	A1CF	APOBEC1 complementation factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:0080600	COVID-19		ISO	RGD:1352250	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:1115	sarcoma		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113160	DERA	deoxyribose-phosphate aldolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112075	nuclear type mitochondrial complex I deficiency 10		ISO	RGD:1604552	D	RGD:7240710	20190315	OMIM			
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:0112075	nuclear type mitochondrial complex I deficiency 10		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 10	PMID:16200211|PMID:18180188|PMID:20571988|PMID:20818383|PMID:25590979|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284|PMID:34234304
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:1909	melanoma		ISO	RGD:1604552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:3652	Leigh disease		ISO	RGD:1604552	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:16200211|PMID:18180188|PMID:20818383|PMID:22644603|PMID:25326635|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:3652	Leigh disease		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:16200211|PMID:18180188|PMID:22644603|PMID:25741868|PMID:26795593|PMID:28492532|PMID:30634555|PMID:31130284
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:630	genetic disease		ISO	RGD:1604552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16200211|PMID:18180188|PMID:25741868|PMID:26795593|PMID:28492532|PMID:31130284
12113173	NDUFAF2	NADH:ubiquinone oxidoreductase complex assembly factor 2	gene	DOID:9005683	Metabolic Brain Diseases, Inborn		ISO	RGD:1604552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16200211
12113188	ACTL6A	actin like 6A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113188	ACTL6A	actin like 6A	gene	DOID:0050840	cervical dystonia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:0060320	inguinal hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:0060321	umbilical hernia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:0070297	primary microcephaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113188	ACTL6A	actin like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:1059	intellectual disability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:11111	hydronephrosis		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:1115	sarcoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113188	ACTL6A	actin like 6A	gene	DOID:1205	allergic disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:19215055|PMID:25741868|PMID:28649782|PMID:31994175
12113188	ACTL6A	actin like 6A	gene	DOID:12849	autistic disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:1909	melanoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113188	ACTL6A	actin like 6A	gene	DOID:2841	asthma		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:535	sleep disorder		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113188	ACTL6A	actin like 6A	gene	DOID:630	genetic disease		ISO	RGD:1603412	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12113188	ACTL6A	actin like 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12113188	ACTL6A	actin like 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113188	ACTL6A	actin like 6A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:9000727	Syncope		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:9001722	Dysarthria		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9003133	Hypertelorism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9004507	Hirsutism		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:9005077	Joint Instability		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28649782
12113188	ACTL6A	actin like 6A	gene	DOID:9006878	Exercise Intolerance		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exercise intolerance	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113188	ACTL6A	actin like 6A	gene	DOID:9007573	Flatfoot		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9007921	Spina Bifida Cystica		ISO	RGD:1307747	D	RGD:9068941	20200609	RGD			PMID:23677776|REF_RGD_ID:9587760
12113188	ACTL6A	actin like 6A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
12113188	ACTL6A	actin like 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113188	ACTL6A	actin like 6A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603412	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113188	ACTL6A	actin like 6A	gene	DOID:9834	hyperopia		ISO	RGD:1603412	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:732468	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Parkes Weber syndrome	PMID:25741868|PMID:28492532
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:39434542
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:1909	melanoma		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:7240710	20230505	OMIM			
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:15574420|PMID:18363760|PMID:18446851|PMID:22200646|PMID:23801933|PMID:24038909|PMID:24274751|PMID:25040287|PMID:25741868|PMID:27081547|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29891884|PMID:33248299|PMID:36980822|PMID:8275088|PMID:9219684
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732468	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:22200646|PMID:23801933|PMID:25741868|PMID:28492532|PMID:29110021
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:305	carcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14639529
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:732468	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:multiple (human)	PMID:14639529|REF_RGD_ID:734495
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732469	D	RGD:9068941	20200609	RGD		in males;protein:decreased expression:heart left ventricle (mouse)	PMID:24157234|REF_RGD_ID:9999450
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome	PMID:16199547|PMID:17576681|PMID:21626678|PMID:22200646|PMID:23801933|PMID:24038909|PMID:25640679|PMID:25741868|PMID:26774077|PMID:28492532|PMID:28655553|PMID:29110021|PMID:29891884|PMID:30120215|PMID:9536098
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation	susceptibility	ISO	RGD:732468	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:14639529|REF_RGD_ID:734495
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732468	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9008640	Capillary Malformation-Arteriovenous Malformation 1		ISO	RGD:732468	D	RGD:7240710	20190327	OMIM			
12113217	RASA1	RAS p21 protein activator 1	gene	DOID:9008640	Capillary Malformation-Arteriovenous Malformation 1		ISO	RGD:732468	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation 1	PMID:22200646|PMID:23801933|PMID:24038909|PMID:25741868|PMID:28492532|PMID:29110021
12113246	RPS25	ribosomal protein S25	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113246	RPS25	ribosomal protein S25	gene	DOID:1115	sarcoma		ISO	RGD:1353637	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113246	RPS25	ribosomal protein S25	gene	DOID:1324	lung cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113246	RPS25	ribosomal protein S25	gene	DOID:4362	cervical cancer		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113246	RPS25	ribosomal protein S25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113246	RPS25	ribosomal protein S25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113246	RPS25	ribosomal protein S25	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:0110344	osteogenesis imperfecta type 5		ISO	RGD:1621340	D	RGD:9068941	20220825	MouseDO		OMIM:610967	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:10534	stomach cancer		ISO	RGD:1347236	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:1324	lung cancer		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:1909	melanoma		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:3275	thymoma		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:4362	cervical cancer		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:28492532
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1347236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113256	SUCO	SUN domain containing ossification factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:10534	stomach cancer		ISO	RGD:1347801	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:10907	microcephaly		ISO	RGD:1347801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:1909	melanoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:4362	cervical cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:6039	uveal melanoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9009128	PEHO-like syndrome		ISO	RGD:1347801	D	RGD:7240710	20240807	OMIM			
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9009128	PEHO-like syndrome		ISO	RGD:1347801	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CCDC88A-related condition | ClinVar Annotator: match by term: PEHO-LIKE SYNDROME | ClinVar Annotator: match by term: PEHO-like syndrome | ClinVar Annotator: match by term: PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME	PMID:25741868|PMID:26917597|PMID:28492532|PMID:30392057
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9256	colorectal cancer		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12113284	CCDC88A	coiled-coil domain containing 88A	gene	DOID:9834	hyperopia		ISO	RGD:1347801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:1557659	D	RGD:9068941	20220825	MouseDO		OMIM:189800 | OMIM:609402 | OMIM:609403 | OMIM:609404 | OMIM:614592	
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113326	ASB4	ankyrin repeat and SOCS box containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113335	CTSW	cathepsin W	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113335	CTSW	cathepsin W	gene	DOID:10534	stomach cancer		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113335	CTSW	cathepsin W	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113335	CTSW	cathepsin W	gene	DOID:6039	uveal melanoma		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12113335	CTSW	cathepsin W	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113335	CTSW	cathepsin W	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113354	MEIS3	Meis homeobox 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113354	MEIS3	Meis homeobox 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113354	MEIS3	Meis homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113354	MEIS3	Meis homeobox 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12113354	MEIS3	Meis homeobox 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12113354	MEIS3	Meis homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113354	MEIS3	Meis homeobox 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113354	MEIS3	Meis homeobox 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113383	UQCR10	ubiquinol-cytochrome c reductase, complex III subunit X	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113383	UQCR10	ubiquinol-cytochrome c reductase, complex III subunit X	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:1115	sarcoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:1909	melanoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:303	substance-related disorder		ISO	RGD:1605359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:5041	esophageal cancer		ISO	RGD:1605359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113389	CCDC91	coiled-coil domain containing 91	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113415	ZC2HC1A	zinc finger C2HC-type containing 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602891	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:0050741	alcohol dependence		ISO	RGD:69020	D	RGD:9068941	20231116	RGD		DNA:SNP: :140G>C	PMID:19060480|REF_RGD_ID:401900293
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:0050741	alcohol dependence		ISO	RGD:69020	D	RGD:9068941	20231116	RGD		mRNA:increased expression:Brodmann (1909) area 9	PMID:22176604|REF_RGD_ID:401900608
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:0050741	alcohol dependence		ISO	RGD:69020	D	RGD:9068941	20240530	RGD		associated with nicotine dependence;DNA:SNPs:enhancer:multiple	PMID:23216389|REF_RGD_ID:405849412
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:2845	D	RGD:9068941	20240606	RGD			PMID:22921986|REF_RGD_ID:405850243
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:0060001	withdrawal disorder		ISO	RGD:69020	D	RGD:9068941	20231116	RGD		associated with alcohol dependence;DNA:SNP: :140G>C	PMID:19060480|REF_RGD_ID:401900293
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69020	D	RGD:9068941	20200609	RGD			PMID:20508993|REF_RGD_ID:5683632
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:11832	visual epilepsy		ISO	RGD:69020	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12646302|PMID:16313900|PMID:2533336
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:14330	Parkinson's disease		ISO	RGD:2845	D	RGD:9068941	20200609	RGD			PMID:20508280|REF_RGD_ID:5683633
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2845	D	RGD:9068941	20231123	RGD			PMID:9631953|REF_RGD_ID:401900760
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:1596	depressive disorder		ISO	RGD:69020	D	RGD:9068941	20200609	RGD			PMID:10578452|PMID:21512427|REF_RGD_ID:5683629|REF_RGD_ID:5683634
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:2030	anxiety disorder		ISO	RGD:10745	D	RGD:9068941	20220825	MouseDO		OMIM:607834	
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:2030	anxiety disorder		ISO	RGD:2845	D	RGD:9068941	20240704	RGD		protein:increased expression:prefrontal cortex	PMID:32007493|REF_RGD_ID:405866375
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:2030	anxiety disorder		ISO	RGD:69020	D	RGD:9068941	20200609	RGD			PMID:21512427|REF_RGD_ID:5683629
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:302	substance abuse		ISO	RGD:69020	D	RGD:9068941	20240523	RGD		DNA:SNP:promoter:-1019G>C (rs6295)	PMID:26926882|REF_RGD_ID:11555812
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:594	panic disorder		ISO	RGD:2845	D	RGD:9068941	20200609	RGD			PMID:21421022|REF_RGD_ID:5683630
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:594	panic disorder		ISO	RGD:69020	D	RGD:9068941	20200609	RGD			PMID:20817074|REF_RGD_ID:5683631
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:809	cocaine abuse		ISO	RGD:2845	D	RGD:9068941	20231116	RGD		protein:decreased expression:dentate gyrus, hypothalamus	PMID:9723786|REF_RGD_ID:401900605
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:2845	D	RGD:9068941	20250417	RGD			PMID:31437433|REF_RGD_ID:598130084
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:8645	subacute delirium		ISO	RGD:2845	D	RGD:9068941	20240606	RGD		mRNA, protein:increased expression:hippocampal formation, amygdala	PMID:27760517|REF_RGD_ID:405850209
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:8646	substance-induced psychosis		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19747927
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:8927	learning disability		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12591222
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21447133
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9000495	Tremor		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11070179
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9000641	Pain		ISO	RGD:10745	D	RGD:9068941	20200609	RGD			PMID:21945716|REF_RGD_ID:5683627
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9000641	Pain		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12595749
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9000972	Fever		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21990073
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9003805	Catalepsy		ISO	RGD:2845	D	RGD:9068941	20200609	RGD			PMID:20508280|REF_RGD_ID:5683633
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9004992	Apnea		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10640309
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11853856
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9005968	Neuralgia		ISO	RGD:10745	D	RGD:9068941	20240523	RGD		protein:increased expression:dorsal raphe nucleus	PMID:31045847|REF_RGD_ID:405849276
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9007001	Bradycardia		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2207497
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9008023	Memory Disorders		ISO	RGD:69020	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12591222
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2845	D	RGD:9068941	20240627	RGD			PMID:25817367|REF_RGD_ID:405866362
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:2845	D	RGD:9068941	20200609	RGD			PMID:21352823|REF_RGD_ID:5683628
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9008802	Periodic Fever, Menstrual Cycle-Dependent		ISO	RGD:69020	D	RGD:7240710	20180130	OMIM			
12113428	HTR1A	5-hydroxytryptamine receptor 1A	gene	DOID:9008802	Periodic Fever, Menstrual Cycle-Dependent		ISO	RGD:69020	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HTR1A-related condition | ClinVar Annotator: match by term: Menstrual cycle-dependent periodic fever	PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2395	D	RGD:9068941	20241121	RGD		protein:increased expression:cytosol	PMID:25684186|REF_RGD_ID:408418736
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1059	intellectual disability		ISO	RGD:70833	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:10763	hypertension		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver, mitochondrion	PMID:19135993|REF_RGD_ID:2303405
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11407344
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:70833	D	RGD:9068941	20200609	RGD		CACD, OMIM:265380, DNA:polymorphism:T1405N	PMID:11407344|REF_RGD_ID:1600716
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1596	depressive disorder		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:178	vascular disease		ISO	RGD:70833	D	RGD:9068941	20200609	RGD		venoocclusive disease, DNA:polymorphism:T1405N	PMID:14718356|REF_RGD_ID:1600717
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:1909	melanoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:3070	high grade glioma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:22173106|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:70833	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:22173106|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:70833	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9000722	Animal Hepatitis		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8821709|REF_RGD_ID:2303519
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:17539997|REF_RGD_ID:2303515
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9001586	Experimental Liver Neoplasms	severity	ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:3387993|REF_RGD_ID:2303406
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9001733	Tinnitus		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2395	D	RGD:9068941	20200609	RGD			PMID:3973436|REF_RGD_ID:2303532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9002802	Acidoses		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:9472964|REF_RGD_ID:4144071
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9002957	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO	treatment	ISO	RGD:10389	D	RGD:9068941	20200609	RGD			PMID:29801986|REF_RGD_ID:13628400
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9003515	Neonatal Pulmonary Hypertension		ISO	RGD:70833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM | ClinVar Annotator: match by term: Pulmonary hypertension, neonatal, susceptibility to	PMID:12655559|PMID:15164414|PMID:16199547|PMID:16737834|PMID:19793055|PMID:20800523|PMID:21120950|PMID:22173106|PMID:23649895|PMID:24813853|PMID:25741868|PMID:28492532|PMID:32154057|PMID:33309754
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:2882780|REF_RGD_ID:4144110
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9006462	Coma		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8438805
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:70833	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9007736	Vertigo		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:8836904|REF_RGD_ID:4140432
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hyperammonemia	PMID:21120950|PMID:22173106|PMID:25741868|PMID:28492532|PMID:29888426|PMID:31507628
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9280	carbamoyl phosphate synthetase I deficiency disease		ISO	RGD:70833	D	RGD:7240710	20251015	OMIM			
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9280	carbamoyl phosphate synthetase I deficiency disease		ISO	RGD:70833	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY | ClinVar Annotator: match by term: Carbamoyl-phosphate synthase I deficiency | ClinVar Annotator: match by term: Congenital hyperammonemia, type I | ClinVar Annotator: match by term: Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency | ClinVar Annotator: match by term: carbamoyl phosphate synthetase I deficiency disease	PMID:10471838|PMID:11388595|PMID:11536261|PMID:12655559|PMID:12955727|PMID:15050969|PMID:15164414|PMID:15617192|PMID:15876373|PMID:16199547|PMID:16737834|PMID:17310273|PMID:17357079|PMID:17576681|PMID:18666241|PMID:19167850|PMID:19309799|PMID:19684305|PMID:19793055|PMID:20578160|PMID:20800523|PMID:20855223|PMID:21068339|PMID:21108709|PMID:21120950|PMID:22173106|PMID:22494545|PMID:22575620|PMID:23649895|PMID:24813853|PMID:24880889|PMID:25640679|PMID:25741868|PMID:26059772|PMID:26322415|PMID:26440671|PMID:26666653|PMID:27121329|PMID:27150549|PMID:27290639|PMID:27436290|PMID:28007335|PMID:28444906|PMID:28492532|PMID:28526534|PMID:28658158|PMID:30285816|PMID:31392111|PMID:31392117|PMID:31435610|PMID:31507628|PMID:31749211|PMID:32154057|PMID:32280145|PMID:32447331|PMID:32537019|PMID:32670798|PMID:32718099|PMID:32934962|PMID:33057194|PMID:33190319|PMID:33240318|PMID:33309754|PMID:33309854|PMID:33489762|PMID:33551825|PMID:33611823|PMID:33726816|PMID:33851512|PMID:33924653|PMID:34014557|PMID:34298581|PMID:34440436|PMID:34670888|PMID:34970092|PMID:34973183|PMID:35003817|PMID:35982159|PMID:36340787|PMID:36703223|PMID:37365635|PMID:37427576|PMID:38394969|PMID:38582244|PMID:39174957|PMID:39469307|PMID:8486760|PMID:8831077|PMID:9536098|PMID:9686343|PMID:9711878
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:936	brain disease		ISO	RGD:70833	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:2395	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:20347174|REF_RGD_ID:4144089
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9834	hyperopia		ISO	RGD:70833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:21120950|PMID:25741868|PMID:28492532
12113445	CPS1	carbamoyl-phosphate synthase 1	gene	DOID:9970	obesity		ISO	RGD:2395	D	RGD:9068941	20200609	RGD			PMID:15481768|REF_RGD_ID:2303517
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:1115	sarcoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:12849	autistic disorder		ISO	RGD:736301	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:1324	lung cancer		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:3275	thymoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736301	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736301	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12113487	SLC36A1	solute carrier family 36 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736301	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113526	IK	IK cytokine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113526	IK	IK cytokine	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113526	IK	IK cytokine	gene	DOID:1324	lung cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113526	IK	IK cytokine	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12113526	IK	IK cytokine	gene	DOID:4362	cervical cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113526	IK	IK cytokine	gene	DOID:5041	esophageal cancer		ISO	RGD:1347168	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113526	IK	IK cytokine	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12113526	IK	IK cytokine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113526	IK	IK cytokine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113526	IK	IK cytokine	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12113526	IK	IK cytokine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113526	IK	IK cytokine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113550	SSC4D	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12113550	SSC4D	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113550	SSC4D	scavenger receptor cysteine rich family member with 4 domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113563	FAF1	Fas associated factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113563	FAF1	Fas associated factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113563	FAF1	Fas associated factor 1	gene	DOID:1324	lung cancer		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113563	FAF1	Fas associated factor 1	gene	DOID:1909	melanoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:3275	thymoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12113563	FAF1	Fas associated factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113563	FAF1	Fas associated factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113563	FAF1	Fas associated factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113563	FAF1	Fas associated factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113590	FAM131B	family with sequence similarity 131 member B	gene	DOID:0060058	lymphoma		ISO	RGD:1605421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12113590	FAM131B	family with sequence similarity 131 member B	gene	DOID:0080600	COVID-19		ISO	RGD:1605421	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12113590	FAM131B	family with sequence similarity 131 member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350308	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:1324	lung cancer		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113600	GTSE1	G2 and S-phase expressed 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350308	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12113617	STK35	serine/threonine kinase 35	gene	DOID:1324	lung cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113617	STK35	serine/threonine kinase 35	gene	DOID:3275	thymoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113617	STK35	serine/threonine kinase 35	gene	DOID:4362	cervical cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113617	STK35	serine/threonine kinase 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113617	STK35	serine/threonine kinase 35	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113617	STK35	serine/threonine kinase 35	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12113625	SGO1	shugoshin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12113625	SGO1	shugoshin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113625	SGO1	shugoshin 1	gene	DOID:0060339	chronic atrial and intestinal dysrhythmia		ISO	RGD:1344948	D	RGD:7240710	20180130	OMIM			
12113625	SGO1	shugoshin 1	gene	DOID:0060339	chronic atrial and intestinal dysrhythmia		ISO	RGD:1344948	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: SGO1-related condition	PMID:25741868
12113625	SGO1	shugoshin 1	gene	DOID:1115	sarcoma		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113625	SGO1	shugoshin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113625	SGO1	shugoshin 1	gene	DOID:5295	intestinal disease		ISO	RGD:1344948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25282101
12113625	SGO1	shugoshin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113625	SGO1	shugoshin 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1344948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25282101
12113625	SGO1	shugoshin 1	gene	DOID:9004980	Chronobiology Disorders		ISO	RGD:1344948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25282101
12113625	SGO1	shugoshin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:10534	stomach cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:10591	pre-eclampsia		ISO	RGD:1606818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26095815
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:1115	sarcoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:1324	lung cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1606818	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19096014
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:3275	thymoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:4362	cervical cancer		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606818	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113641	ARHGAP45	Rho GTPase activating protein 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0051049	congenital disorder of glycosylation type IIt		ISO	RGD:1321743	D	RGD:7240710	20200610	OMIM			
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0051049	congenital disorder of glycosylation type IIt		ISO	RGD:1321743	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type iit | ClinVar Annotator: match by term: GALNT2-related condition	PMID:25741868|PMID:27508872|PMID:28097321|PMID:28492532|PMID:32293671
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1321743	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:480	movement disease		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321743	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113675	GALNT2	polypeptide N-acetylgalactosaminyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321743	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:0050127	sinusitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:21385388|REF_RGD_ID:5147389
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:2841	asthma		ISO	RGD:1346821	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, SUSCEPTIBILITY TO	
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	no_association	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-112G>A (human)	PMID:18201431|REF_RGD_ID:5144230
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	severity	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-112G>A (human)	PMID:18089940|REF_RGD_ID:5144231
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1346821	D	RGD:7240710	20190502	OMIM			
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1558355	D	RGD:9068941	20200609	RGD			PMID:21478551|REF_RGD_ID:5144129
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD			PMID:20466451|REF_RGD_ID:5147390
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7726552 (human)	PMID:21410962|REF_RGD_ID:5144225
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:nasal mucosa	PMID:21385388|REF_RGD_ID:5147389
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:4483	rhinitis		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:17218572|REF_RGD_ID:5144232
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1346821	D	RGD:9068941	20200609	RGD			PMID:19418968|REF_RGD_ID:5147392
12113707	SCGB3A2	secretoglobin family 3A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1558355	D	RGD:9068941	20200609	RGD			PMID:20466451|REF_RGD_ID:5147390
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:1115	sarcoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:1324	lung cancer		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:3275	thymoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113712	ARMCX4	armadillo repeat containing X-linked 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113861	DDX39B	DExD-box helicase 39B	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737407	D	RGD:9068941	20200609	RGD			PMID:11756005|REF_RGD_ID:13702905
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:30311386
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:0080269	autosomal dominant nonsyndromic deafness 73		ISO	RGD:1345897	D	RGD:7240710	20190315	OMIM			
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:0080269	autosomal dominant nonsyndromic deafness 73		ISO	RGD:1345897	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 73 | ClinVar Annotator: match by term: PTPRQ-related condition	PMID:25741868|PMID:26969326|PMID:30311386|PMID:34515852
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:0110529	autosomal recessive nonsyndromic deafness 84A		ISO	RGD:1345897	D	RGD:7240710	20180130	OMIM			
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:0110529	autosomal recessive nonsyndromic deafness 84A		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION | ClinVar Annotator: match by term: Deafness, autosomal recessive 84	PMID:20346435|PMID:25557914|PMID:25741868|PMID:29309402|PMID:30311386|PMID:31655630|PMID:33229591|PMID:33478437
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:37811145
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:13757	excessive tearing		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epiphora	
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:4362	cervical cancer		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:630	genetic disease		ISO	RGD:1345897	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:8927	learning disability		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9001733	Tinnitus		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9001767	Unilateral Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral deafness	PMID:25741868
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345897	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:30303587|PMID:30311386
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9004538	Hearing Loss		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment	PMID:25741868|PMID:30311386
12113882	PTPRQ	protein tyrosine phosphatase receptor type Q	gene	DOID:9008681	Deafness		ISO	RGD:1345897	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Deafness	
12113931	CENPV	centromere protein V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113931	CENPV	centromere protein V	gene	DOID:1115	sarcoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12113931	CENPV	centromere protein V	gene	DOID:1324	lung cancer		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113931	CENPV	centromere protein V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12113931	CENPV	centromere protein V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351678	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113941	WNT7A	Wnt family member 7A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:69159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12113941	WNT7A	Wnt family member 7A	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:69159	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	
12113941	WNT7A	Wnt family member 7A	gene	DOID:0090067	Fuhrmann syndrome		ISO	RGD:69159	D	RGD:7240710	20180130	OMIM			
12113941	WNT7A	Wnt family member 7A	gene	DOID:0090067	Fuhrmann syndrome		ISO	RGD:69159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FUHRMANN SYNDROME | ClinVar Annotator: match by term: Fuhrmann syndrome | ClinVar Annotator: match by term: WNT7A-related condition	PMID:25741868|PMID:28492532
12113941	WNT7A	Wnt family member 7A	gene	DOID:0112181	Schinzel type phocomelia		ISO	RGD:69159	D	RGD:7240710	20180130	OMIM			
12113941	WNT7A	Wnt family member 7A	gene	DOID:0112181	Schinzel type phocomelia		ISO	RGD:69159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schinzel phocomelia syndrome | ClinVar Annotator: match by term: ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY	PMID:25741868
12113941	WNT7A	Wnt family member 7A	gene	DOID:127	leiomyoma		ISO	RGD:69159	D	RGD:9068941	20200609	RGD		Uterine Leiomyoma;  mRNA:decreased expression,increased expression:tumor:decreased in 20/30, increased in 9/30 tumors vs paired adjacent myometria	PMID:11232041|REF_RGD_ID:2298847
12113941	WNT7A	Wnt family member 7A	gene	DOID:3650	lactic acidosis		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
12113941	WNT7A	Wnt family member 7A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113941	WNT7A	Wnt family member 7A	gene	DOID:630	genetic disease		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12113941	WNT7A	Wnt family member 7A	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:69159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12113941	WNT7A	Wnt family member 7A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174399
12113941	WNT7A	Wnt family member 7A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69160	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863
12113941	WNT7A	Wnt family member 7A	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:69159	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15751030
12113941	WNT7A	Wnt family member 7A	gene	DOID:9007832	Santos Syndrome		ISO	RGD:69159	D	RGD:7240710	20241225	OMIM			
12113941	WNT7A	Wnt family member 7A	gene	DOID:9007832	Santos Syndrome		ISO	RGD:69159	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Santos syndrome	
12113941	WNT7A	Wnt family member 7A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12113941	WNT7A	Wnt family member 7A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12113941	WNT7A	Wnt family member 7A	gene	DOID:936	brain disease		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12113941	WNT7A	Wnt family member 7A	gene	DOID:9993	hypoglycemia		ISO	RGD:69159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1345995	D	RGD:7240710	20191106	OMIM			
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:0111395	mucopolysaccharidosis type IIIA		ISO	RGD:1345995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUCOPOLYSACCHARIDOSIS, TYPE IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA | ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIA (Sanfilippo A) | ClinVar Annotator: match by term: Mucopolysaccharidosis, MPS-III-A	PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11509012|PMID:11668611|PMID:11793481|PMID:11903343|PMID:12000360|PMID:12438493|PMID:12702166|PMID:15|PMID:15146460|PMID:15542396|PMID:15637719|PMID:15902564|PMID:16174644|PMID:16199547|PMID:17128482|PMID:17576681|PMID:18254660|PMID:18407553|PMID:19046346|PMID:19099774|PMID:19383612|PMID:2015|PMID:21061399|PMID:21204211|PMID:21228398|PMID:21393040|PMID:21455105|PMID:21671382|PMID:21910976|PMID:21963080|PMID:22002444|PMID:22976768|PMID:23084433|PMID:24314109|PMID:24576347|PMID:24767253|PMID:24816101|PMID:24875751|PMID:25113300|PMID:25557439|PMID:25741868|PMID:25807448|PMID:26075876|PMID:26331342|PMID:26787381|PMID:27243974|PMID:27590925|PMID:27629047|PMID:27896117|PMID:28101780|PMID:28283807|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30070758|PMID:30593151|PMID:30809705|PMID:31536183|PMID:31718697|PMID:32036093|PMID:32214227|PMID:32447333|PMID:32581362|PMID:33105639|PMID:33673364|PMID:34047372|PMID:34276053|PMID:34690354|PMID:34712574|PMID:34813777|PMID:34828358|PMID:34991944|PMID:35005816|PMID:35221874|PMID:35629088|PMID:35835061|PMID:36918699|PMID:36964972|PMID:36972941|PMID:37430334|PMID:37596900|PMID:37597066|PMID:37772257|PMID:37787787|PMID:38149346|PMID:38374194|PMID:38730490|PMID:38841321|PMID:39201540|PMID:44|PMID:7493035|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9536098|PMID:9554748|PMID:9700599|PMID:9744479
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:1059	intellectual disability		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: mental retardation	PMID:21204211|PMID:25741868|PMID:28492532|PMID:28844463
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:11830	myopia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		IAGP		D	RGD:12801476	20250924	OMIA		Mucopolysaccharidosis IIIA	PMID:9667374|PMID:10950929|PMID:11370881|PMID:11829484|PMID:19699666|PMID:17846229|PMID:21550404|PMID:21139569|PMID:25421091|PMID:25246230|PMID:27491210|PMID:26762778|PMID:27832416|PMID:32219101|PMID:29923090|PMID:33969809|PMID:37582787|PMID:38003185|PMID:40965331
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: N-acetyl-alpha-d-glucosaminidase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: Sanfilippo syndrome	PMID:10521831|PMID:10601282|PMID:10727844|PMID:11182930|PMID:11343308|PMID:11668611|PMID:12000360|PMID:12490062|PMID:12702166|PMID:15146460|PMID:15542396|PMID:18407553|PMID:19099774|PMID:21061399|PMID:21204211|PMID:21671382|PMID:21910976|PMID:22002444|PMID:22976768|PMID:22976788|PMID:24314109|PMID:24816101|PMID:24875751|PMID:25557439|PMID:25741868|PMID:26331342|PMID:26648750|PMID:26787381|PMID:27590925|PMID:28492532|PMID:28844463|PMID:29023963|PMID:30809705|PMID:31536183|PMID:32581362|PMID:9158154|PMID:9285796|PMID:9401012|PMID:9554748|PMID:9700599|PMID:9744479
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:12801	mucopolysaccharidosis III		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Heparan sulfate sulfatase deficiency | ClinVar Annotator: match by term: SULFAMIDASE DEFICIENCY	PMID:21204211|PMID:24816101|PMID:25741868|PMID:28492532|PMID:9401012
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:12849	autistic disorder		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:1324	lung cancer		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:1909	melanoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1345995	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome | ClinVar Annotator: match by term: Chédiak-Higashi syndrome	PMID:22521419|PMID:24033266|PMID:25741868|PMID:26203641|PMID:26255310|PMID:28492532|PMID:30018619|PMID:30387497|PMID:31971603|PMID:36174714|PMID:36221432
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:25741868|PMID:28492532|PMID:33105639
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:3070	high grade glioma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:3275	thymoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:630	genetic disease		ISO	RGD:1345995	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146460|PMID:18407553|PMID:21061399|PMID:21671382|PMID:22976768|PMID:25741868|PMID:25807448|PMID:26787381|PMID:28492532|PMID:29023963|PMID:31046785|PMID:31536183|PMID:31718697|PMID:32581362|PMID:35291973|PMID:35848209|PMID:9401012
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:630	genetic disease		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9003507	Premature Birth		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345995	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12113975	SGSH	N-sulfoglucosamine sulfohydrolase	gene	DOID:9841	hypotropia		ISO	RGD:1345995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotropia	PMID:25741868
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:0080600	COVID-19		ISO	RGD:1343162	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:1059	intellectual disability		ISO	RGD:42723466	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:4362	cervical cancer		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:5419	schizophrenia		ISO	RGD:1343162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12113986	CASP4	caspase 4, apoptosis-related cysteine peptidase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12113996	CD63	CD63 molecule	gene	DOID:0051061	stroke		ISO	RGD:735587	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet	PMID:19233449|REF_RGD_ID:2314182
12113996	CD63	CD63 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12113996	CD63	CD63 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12113996	CD63	CD63 molecule	gene	DOID:1909	melanoma		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12113996	CD63	CD63 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12113996	CD63	CD63 molecule	gene	DOID:3407	carotid artery disease	disease_progression	ISO	RGD:735587	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:platelet	PMID:15817881|REF_RGD_ID:2314188
12113996	CD63	CD63 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:735587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12113996	CD63	CD63 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12113996	CD63	CD63 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12113996	CD63	CD63 molecule	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12113996	CD63	CD63 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12113996	CD63	CD63 molecule	gene	DOID:9743	diabetic neuropathy		ISO	RGD:735587	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:platelet	PMID:10547212|REF_RGD_ID:2314203
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:10534	stomach cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:1324	lung cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:4362	cervical cancer		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:5041	esophageal cancer		ISO	RGD:1349132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1349132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:9000918	Disease Progression		ISO	RGD:1349132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12114038	MRPS18B	mitochondrial ribosomal protein S18B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114049	POLH	DNA polymerase eta	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:10398605|PMID:11773631|PMID:18368133|PMID:24130121|PMID:25256075|PMID:28492532|PMID:28688171|PMID:31980526
12114049	POLH	DNA polymerase eta	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1320482	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12114049	POLH	DNA polymerase eta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114049	POLH	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISO	RGD:1320482	D	RGD:7240710	20180130	OMIM			
12114049	POLH	DNA polymerase eta	gene	DOID:0110847	xeroderma pigmentosum variant type		ISO	RGD:1320482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: POLH-related condition | ClinVar Annotator: match by term: Photosensitivity with defective DNA synthesis | ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM, VARIANT TYPE | ClinVar Annotator: match by term: Xeroderma pigmentosum variant type	PMID:10385124|PMID:10398605|PMID:11121129|PMID:11773631|PMID:16199547|PMID:17344931|PMID:18368133|PMID:18703314|PMID:20577208|PMID:24033266|PMID:24130121|PMID:25256075|PMID:25741868|PMID:26884178|PMID:27004399|PMID:27664908|PMID:27982466|PMID:28492532|PMID:32239545|PMID:32265042|PMID:35111200|PMID:38212351
12114049	POLH	DNA polymerase eta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114049	POLH	DNA polymerase eta	gene	DOID:1115	sarcoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114049	POLH	DNA polymerase eta	gene	DOID:1612	breast cancer		ISO	RGD:1320482	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:28492532|PMID:30414346|PMID:33558524
12114049	POLH	DNA polymerase eta	gene	DOID:1909	melanoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114049	POLH	DNA polymerase eta	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	
12114049	POLH	DNA polymerase eta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114049	POLH	DNA polymerase eta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114049	POLH	DNA polymerase eta	gene	DOID:630	genetic disease		ISO	RGD:1320482	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12114049	POLH	DNA polymerase eta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114049	POLH	DNA polymerase eta	gene	DOID:905	Zellweger syndrome		ISO	RGD:1320482	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12114072	WDR86	WD repeat domain 86	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114072	WDR86	WD repeat domain 86	gene	DOID:1115	sarcoma		ISO	RGD:1604947	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114072	WDR86	WD repeat domain 86	gene	DOID:1324	lung cancer		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114072	WDR86	WD repeat domain 86	gene	DOID:3275	thymoma		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114072	WDR86	WD repeat domain 86	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114072	WDR86	WD repeat domain 86	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604947	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114086	RAD51AP2	RAD51 associated protein 2	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 88	PMID:25741868
12114086	RAD51AP2	RAD51 associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114086	RAD51AP2	RAD51 associated protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12114086	RAD51AP2	RAD51 associated protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2311158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735378	D	RGD:9068941	20220825	MouseDO			
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:0060058	lymphoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:1115	sarcoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:12849	autistic disorder		ISO	RGD:731343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17106428|PMID:18664314
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:303	substance-related disorder		ISO	RGD:731343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123759
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:3275	thymoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731343	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9002189	High Myopia		ISO	RGD:731343	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9007937	NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES		ISO	RGD:731343	D	RGD:7240710	20220706	OMIM			
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9007937	NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES		ISO	RGD:731343	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES | ClinVar Annotator: match by term: NRCAM-related condition | ClinVar Annotator: match by term: NRCAM-related disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder with neuromuscular and skeletal abnormalities	PMID:25741868|PMID:28492532|PMID:35108495
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
12114093	NRCAM	neuronal cell adhesion molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:10754	otitis media		ISO	RGD:3934	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:epithelial cell	PMID:15799573|REF_RGD_ID:5144051
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:11049	meconium aspiration syndrome		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		protein:increased expression:broncho-alveolar lavage fluid, meconium:	PMID:21567110|REF_RGD_ID:5144123
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:735247	D	RGD:9068941	20200609	RGD			PMID:11435254|REF_RGD_ID:5144211
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:11475	D	RGD:9068941	20200609	RGD			PMID:12847279|REF_RGD_ID:5144208
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2797	idiopathic interstitial pneumonia		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15467329|REF_RGD_ID:5144148
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		associated with lung transplantation; protein:decreased expression:serum,bronchoalveolar lavage	PMID:11981419|REF_RGD_ID:5147386
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2841	asthma		ISO	RGD:3934	D	RGD:9068941	20260521	RGD		mRNA,protein:decreased expression:bronchial alveolar lavage fluid, lung:	PMID:12921604|REF_RGD_ID:5144052
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2841	asthma		ISO	RGD:735247	D	RGD:9068941	20260521	RGD		protein:decreased expression:serum	PMID:15467329|REF_RGD_ID:5144148
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:735247	D	RGD:9068941	20200609	RGD		associated with allergic rhinitis; DNA:SNP:exon:38G>A (human)	PMID:21255142|REF_RGD_ID:5144226
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		recombinant human SCGB1A1 in "experimental crescentic glomerulonephritis" model (mice)	PMID:18558621|REF_RGD_ID:6903251
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:11475	D	RGD:9068941	20220825	MouseDO		OMIM:161950 | OMIM:616818	
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:735247	D	RGD:9068941	20200609	RGD			PMID:11967037|REF_RGD_ID:6903255
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:3021	acute kidney failure		ISO	RGD:3934	D	RGD:9068941	20200609	RGD		associated with LPS induced endotoxemia	PMID:18824919|REF_RGD_ID:2313129
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735247	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:3934	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:lung	PMID:16369113|REF_RGD_ID:5144139
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		associated with scleroderma, systemic; protein:increased expression:serum:	PMID:21239758|REF_RGD_ID:5144130
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:11475	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:nasal mucosa, lung	PMID:17882576|REF_RGD_ID:5144135
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:850	lung disease		ISO	RGD:735247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16052892
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:11475	D	RGD:9068941	20200609	RGD			PMID:11597923|REF_RGD_ID:5144210
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:11475	D	RGD:9068941	20200609	RGD			PMID:15608088|REF_RGD_ID:5144143
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:11475	D	RGD:9068941	20200609	RGD			PMID:16226776|REF_RGD_ID:5144142
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3934	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:18420837|REF_RGD_ID:5143982
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9004659	Respiration Disorders		ISO	RGD:735247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18288317
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9005372	Inflammation		ISO	RGD:735247	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16052892
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3934	D	RGD:9068941	20200609	RGD			PMID:11107082|REF_RGD_ID:5144055
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:11475	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:epithelial cell	PMID:9555576|REF_RGD_ID:5144215
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:nasal lavage fluid	PMID:15836756|REF_RGD_ID:5144234
12114148	SCGB1A1	secretoglobin family 1A member 1	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:735247	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:15467329|REF_RGD_ID:5144148
12114155	DBNDD2	dysbindin domain containing 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1321647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192919
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0060478	Zika fever		ISO	RGD:1321647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28694387
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISO	RGD:1321647	D	RGD:7240710	20180130	OMIM			
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:0110885	inflammatory bowel disease 10		ISO	RGD:1321647	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATG16L1-related condition | ClinVar Annotator: match by term: Inflammatory bowel disease 10	PMID:25741868|PMID:30166421
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:1909	melanoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:3275	thymoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321647	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321647	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:8778	Crohn's disease		ISO	RGD:1321647	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17435756|PMID:18438406
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1553543	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1310631	D	RGD:9068941	20200609	RGD			PMID:24998254|REF_RGD_ID:11561938
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114183	ATG16L1	autophagy related 16 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321647	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:10534	stomach cancer		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:1115	sarcoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:1909	melanoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:3275	thymoma		ISO	RGD:1344659	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:4362	cervical cancer		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer | ClinVar Annotator: match by term: Cervix cancer	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:9004934	BILATERAL CLEFT LIP		ISO	RGD:1344659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bilateral cleft lip	PMID:25741868
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114212	PLEKHA5	pleckstrin homology domain containing A5	gene	DOID:9296	cleft lip		ISO	RGD:1344659	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate	
12114279	C28H10orf120	chromosome 28 C10orf120 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:0060135	apraxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:7240710	20180130	OMIM			
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:0060351	mitochondrial complex III deficiency nuclear type 2		ISO	RGD:1353382	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 2 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency, nuclear type 2 | ClinVar Annotator: match by term: TTC19-related condition	PMID:17576681|PMID:21278747|PMID:23532514|PMID:24368687|PMID:25741868|PMID:25887401|PMID:25899669|PMID:28128857|PMID:28492532|PMID:38127101|PMID:9536098
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1353382	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:1059	intellectual disability		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:12849	autistic disorder		ISO	RGD:1353382	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:2841	asthma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:4362	cervical cancer		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1353382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:5223	infertility		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:543	dystonia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:630	genetic disease		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1353382	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease | ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:863	nervous system disease		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:9001722	Dysarthria		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:9004866	Ataxia		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1353382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278747
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114286	TTC19	tetratricopeptide repeat domain 19	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:1115	sarcoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:1324	lung cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:1909	melanoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:3275	thymoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:4362	cervical cancer		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1347266	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114300	HEATR5A	HEAT repeat containing 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114361	GOLGA2	golgin A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114361	GOLGA2	golgin A2	gene	DOID:10534	stomach cancer		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114361	GOLGA2	golgin A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114361	GOLGA2	golgin A2	gene	DOID:1115	sarcoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114361	GOLGA2	golgin A2	gene	DOID:1324	lung cancer		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114361	GOLGA2	golgin A2	gene	DOID:1909	melanoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114361	GOLGA2	golgin A2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114361	GOLGA2	golgin A2	gene	DOID:3275	thymoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114361	GOLGA2	golgin A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347402	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114361	GOLGA2	golgin A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114361	GOLGA2	golgin A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114361	GOLGA2	golgin A2	gene	DOID:9002066	Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities		ISO	RGD:1347402	D	RGD:7240710	20230215	OMIM			
12114361	GOLGA2	golgin A2	gene	DOID:9002066	Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities		ISO	RGD:1347402	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH HYPOTONIA, MYOPATHY, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay with hypotonia, myopathy, and brain abnormalities | ClinVar Annotator: match by term: GOLGA2-related condition	PMID:25741868
12114361	GOLGA2	golgin A2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12114361	GOLGA2	golgin A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114361	GOLGA2	golgin A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114361	GOLGA2	golgin A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347402	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:1909	melanoma		ISO	RGD:731765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:2394	ovarian cancer		ISO	RGD:731765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:4362	cervical cancer		ISO	RGD:731765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:8466	retinal degeneration		ISO	RGD:731766	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina:	PMID:15718098|REF_RGD_ID:10045823
12114389	GUCY2F	guanylate cyclase 2F, retinal	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731765	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1343469	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114409	NMRK1	nicotinamide riboside kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343469	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114432	NEU3	neuraminidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114432	NEU3	neuraminidase 3	gene	DOID:3275	thymoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114432	NEU3	neuraminidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12114432	NEU3	neuraminidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114432	NEU3	neuraminidase 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12114432	NEU3	neuraminidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114432	NEU3	neuraminidase 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12114432	NEU3	neuraminidase 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1347886	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12114432	NEU3	neuraminidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114432	NEU3	neuraminidase 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1605660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114447	FAIM	Fas apoptotic inhibitory molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114471	KATNAL1	katanin catalytic subunit A1 like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1346255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12114503	PER2	period circadian regulator 2	gene	DOID:0050628	advanced sleep phase syndrome		ISO	RGD:737181	D	RGD:9068941	20200609	RGD		familial advanced sleep-phase syndrome, OMIM:604348, DNA:point mutation:exon:S662G	PMID:11232563|REF_RGD_ID:1600411
12114503	PER2	period circadian regulator 2	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	ISO	RGD:737181	D	RGD:9068941	20240718	RGD			PMID:31329297|REF_RGD_ID:405878078
12114503	PER2	period circadian regulator 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:737181	D	RGD:9068941	20240711	RGD		DNA, mRNA:hypermethylation, decreased expression:blood	PMID:30597578|REF_RGD_ID:405878075
12114503	PER2	period circadian regulator 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:737181	D	RGD:9068941	20240718	RGD		DNA:hypermethylation:blood, promoter	PMID:31329297|REF_RGD_ID:405878078
12114503	PER2	period circadian regulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114503	PER2	period circadian regulator 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:737181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20434889|PMID:20738730
12114503	PER2	period circadian regulator 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737181	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12114503	PER2	period circadian regulator 2	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:737181	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
12114503	PER2	period circadian regulator 2	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:737181	D	RGD:7240710	20180130	OMIM			
12114503	PER2	period circadian regulator 2	gene	DOID:0110011	advanced sleep phase syndrome 1		ISO	RGD:737181	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Advanced sleep phase syndrome 1 | ClinVar Annotator: match by term: PER2-related condition	PMID:25741868|PMID:28492532
12114503	PER2	period circadian regulator 2	gene	DOID:10534	stomach cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114503	PER2	period circadian regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114503	PER2	period circadian regulator 2	gene	DOID:11718	antidepressant type abuse		ISO	RGD:62238	D	RGD:9068941	20240627	RGD		mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
12114503	PER2	period circadian regulator 2	gene	DOID:1324	lung cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114503	PER2	period circadian regulator 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:61945	D	RGD:9068941	20241010	RGD		mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:15009656|REF_RGD_ID:407572515
12114503	PER2	period circadian regulator 2	gene	DOID:3275	thymoma		ISO	RGD:737181	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114503	PER2	period circadian regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114503	PER2	period circadian regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737181	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114503	PER2	period circadian regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114503	PER2	period circadian regulator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12114503	PER2	period circadian regulator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114503	PER2	period circadian regulator 2	gene	DOID:809	cocaine abuse		ISO	RGD:62238	D	RGD:9068941	20240627	RGD		mRNA:increased expression, decreased expression:hippocampal formation, caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
12114503	PER2	period circadian regulator 2	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:737181	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15608650
12114503	PER2	period circadian regulator 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:61945	D	RGD:9068941	20240718	RGD		associated with alcohol use disorder;mRNA:altered expression: arcuate nucleus of hypothalamus, suprachiasmatic nucleus	PMID:16686691|REF_RGD_ID:405866367
12114503	PER2	period circadian regulator 2	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:737181	D	RGD:9068941	20240302	RGD		mRNA:decreased expression:Peripheral blood mononuclear cell (human)	PMID:20735373|REF_RGD_ID:401976556
12114503	PER2	period circadian regulator 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12114503	PER2	period circadian regulator 2	gene	DOID:9005111	morphine withdrawal syndrome	ameliorates	ISO	RGD:62238	D	RGD:9068941	20240229	RGD			PMID:20434889|REF_RGD_ID:401976532
12114503	PER2	period circadian regulator 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:737181	D	RGD:9068941	20240711	RGD		DNA, mRNA:hypermethylation, decreased expression:blood	PMID:30597578|REF_RGD_ID:405878075
12114503	PER2	period circadian regulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114503	PER2	period circadian regulator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737181	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114503	PER2	period circadian regulator 2	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:737181	D	RGD:9068941	20240229	RGD		DNA:repeats::	PMID:22832851|REF_RGD_ID:401976513
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:2683	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma,liver,intestine:	PMID:6113606|REF_RGD_ID:14701046
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:23730648|REF_RGD_ID:14747013
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:0111257	gamma-glutamyl transpeptidase deficiency		ISO	RGD:735681	D	RGD:7240710	20190315	OMIM			
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:0111257	gamma-glutamyl transpeptidase deficiency		ISO	RGD:735681	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gamma-glutamyl transpeptidase deficiency | ClinVar Annotator: match by term: gamma-Glutamyltransferase deficiency	PMID:25741868
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		protein:increased activity:blood	PMID:18937705|REF_RGD_ID:2315598
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:13608	biliary atresia	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:29056230|REF_RGD_ID:14701039
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12747453
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:6120756|REF_RGD_ID:14747014
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:305	carcinoma		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:409	liver disease		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:5022	aflatoxins-related hepatocellular carcinoma		ISO	RGD:2683	D	RGD:9068941	20220707	RGD		associated with estrogen excess;protein:increased activity;liver (rat)	PMID:6133380|REF_RGD_ID:152998935
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic;	PMID:15997630|REF_RGD_ID:14747030
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:5082	liver cirrhosis	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:27793641|REF_RGD_ID:14701041
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Hepatitis B, Chronic;	PMID:25254524|REF_RGD_ID:14747031
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19419996
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:11940314|REF_RGD_ID:14701040
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD		HBV associated	PMID:27793641|REF_RGD_ID:14701041
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:824	periodontitis		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12747453
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum	PMID:11311965|REF_RGD_ID:2315614
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:serum	PMID:16772340|REF_RGD_ID:2315604
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9001542	Albuminuria		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased activity:serum	PMID:15890893|REF_RGD_ID:2315606
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9001594	Paucibacillary Leprosy		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		protein:increased activity:blood:	PMID:1680936|REF_RGD_ID:14747017
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:10934805|REF_RGD_ID:14747019
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:735681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2683	D	RGD:9068941	20200609	RGD		protein:increased activity:serum	PMID:18291430|REF_RGD_ID:2315577
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9005723	Multibacillary Leprosy		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		protein:increased activity:blood:	PMID:1680936|REF_RGD_ID:14747017
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9005725	Iron Overload		ISO	RGD:2683	D	RGD:9068941	20200609	RGD		protein:increased activity:liver	PMID:9559866|REF_RGD_ID:14747018
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:24847614|REF_RGD_ID:14747015
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:17095717|REF_RGD_ID:1601300
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2683	D	RGD:9068941	20200609	RGD			PMID:10934156|REF_RGD_ID:14701049
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis; protein:increased activity:plasma	PMID:17888134|REF_RGD_ID:2315601
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:19936701|REF_RGD_ID:2315593
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9452	steatotic liver disease	disease_progression	ISO	RGD:735681	D	RGD:9068941	20200609	RGD			PMID:19670414|REF_RGD_ID:14747016
12114548	GGT1	gamma-glutamyltransferase 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:735681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus,Insulin-Dependent;protein:increased activity:serum	PMID:11311965|REF_RGD_ID:2315614
12114566	BLNK	B cell linker	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114566	BLNK	B cell linker	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114566	BLNK	B cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:7240710	20180130	OMIM			
12114566	BLNK	B cell linker	gene	DOID:0060027	agammaglobulinemia 4		ISO	RGD:1347273	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia 4, autosomal recessive | ClinVar Annotator: match by term: B cell linker protein deficiency | ClinVar Annotator: match by term: agammaglobulinemia 4, autosomal recessive	PMID:10583958|PMID:16199547|PMID:17576681|PMID:24033266|PMID:24582315|PMID:25741868|PMID:28492532|PMID:30619340|PMID:9536098
12114566	BLNK	B cell linker	gene	DOID:1115	sarcoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114566	BLNK	B cell linker	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1347273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12114566	BLNK	B cell linker	gene	DOID:2583	agammaglobulinemia	susceptibility	ISO	RGD:1347273	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:10583958|REF_RGD_ID:1600518
12114566	BLNK	B cell linker	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12114566	BLNK	B cell linker	gene	DOID:4362	cervical cancer		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114566	BLNK	B cell linker	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114566	BLNK	B cell linker	gene	DOID:630	genetic disease		ISO	RGD:1347273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12114591	SLK	STE20 like kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114591	SLK	STE20 like kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114591	SLK	STE20 like kinase	gene	DOID:10534	stomach cancer		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114591	SLK	STE20 like kinase	gene	DOID:1115	sarcoma		ISO	RGD:733761	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114591	SLK	STE20 like kinase	gene	DOID:1909	melanoma		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114591	SLK	STE20 like kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733761	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114591	SLK	STE20 like kinase	gene	DOID:303	substance-related disorder		ISO	RGD:733761	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12114591	SLK	STE20 like kinase	gene	DOID:4362	cervical cancer		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114591	SLK	STE20 like kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733761	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114591	SLK	STE20 like kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:733761	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114591	SLK	STE20 like kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114591	SLK	STE20 like kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114591	SLK	STE20 like kinase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3780	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:12965890|REF_RGD_ID:2304069
12114591	SLK	STE20 like kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114591	SLK	STE20 like kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114591	SLK	STE20 like kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733761	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12114617	CPLX2	complexin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732283	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114617	CPLX2	complexin 2	gene	DOID:2468	psychotic disorder		ISO	RGD:732283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12114617	CPLX2	complexin 2	gene	DOID:3312	bipolar disorder		ISO	RGD:732283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12114617	CPLX2	complexin 2	gene	DOID:5419	schizophrenia		ISO	RGD:732283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11483314|PMID:14708030
12114617	CPLX2	complexin 2	gene	DOID:5419	schizophrenia		ISO	RGD:732284	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:10534	stomach cancer		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:1909	melanoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114631	MXRA8	matrix remodeling associated 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:0081212	autosomal recessive intellectual developmental disorder 48		ISO	RGD:1603474	D	RGD:7240710	20180130	OMIM			
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:0081212	autosomal recessive intellectual developmental disorder 48		ISO	RGD:1603474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48 | ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome | ClinVar Annotator: match by term: SLC6A17-related condition	PMID:25741868
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:1115	sarcoma		ISO	RGD:1603474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:2843	long QT syndrome		ISO	RGD:1603474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:4362	cervical cancer		ISO	RGD:1603474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114649	SLC6A17	solute carrier family 6 member 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114671	S100B	S100 calcium binding protein B	gene	DOID:0050073	invasive aspergillosis		ISO	RGD:11252	D	RGD:9068941	20200609	RGD			PMID:21423669|REF_RGD_ID:5508765
12114671	S100B	S100 calcium binding protein B	gene	DOID:0050847	sleep apnea		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex, hippocampus, astrocyte	PMID:20002528|REF_RGD_ID:5508790
12114671	S100B	S100 calcium binding protein B	gene	DOID:0051061	stroke	severity	ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17706250|REF_RGD_ID:5508838
12114671	S100B	S100 calcium binding protein B	gene	DOID:0051061	stroke	severity	ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:19959621|REF_RGD_ID:5508793
12114671	S100B	S100 calcium binding protein B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:11252	D	RGD:9068941	20200609	RGD			PMID:21080947|REF_RGD_ID:5508775
12114671	S100B	S100 calcium binding protein B	gene	DOID:10652	Alzheimer's disease		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:20953641|REF_RGD_ID:5508780
12114671	S100B	S100 calcium binding protein B	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:19705461|PMID:20105309|REF_RGD_ID:5508787|REF_RGD_ID:5508798
12114671	S100B	S100 calcium binding protein B	gene	DOID:10763	hypertension		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21130083|REF_RGD_ID:5508770
12114671	S100B	S100 calcium binding protein B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:11252	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder urothelium	PMID:17970044|REF_RGD_ID:2316906
12114671	S100B	S100 calcium binding protein B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder urothelium	PMID:17970044|REF_RGD_ID:2316906
12114671	S100B	S100 calcium binding protein B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder urothelium	PMID:17970044|REF_RGD_ID:2316906
12114671	S100B	S100 calcium binding protein B	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:14707571|REF_RGD_ID:5508819
12114671	S100B	S100 calcium binding protein B	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:20855493|REF_RGD_ID:5508781
12114671	S100B	S100 calcium binding protein B	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:737117	D	RGD:9068941	20210618	RGD		protein:increased expression:serum (human)	PMID:27929120|REF_RGD_ID:127284887
12114671	S100B	S100 calcium binding protein B	gene	DOID:12783	migraine without aura		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21293918|REF_RGD_ID:5508769
12114671	S100B	S100 calcium binding protein B	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18068619|REF_RGD_ID:2324684
12114671	S100B	S100 calcium binding protein B	gene	DOID:13100	intracranial vasospasm		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12186470
12114671	S100B	S100 calcium binding protein B	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:737117	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34792689
12114671	S100B	S100 calcium binding protein B	gene	DOID:13564	aspergillosis		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		DNA:SNP: :427C>T (human)	PMID:22114731|REF_RGD_ID:8695981
12114671	S100B	S100 calcium binding protein B	gene	DOID:14250	Down syndrome		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12888777
12114671	S100B	S100 calcium binding protein B	gene	DOID:14330	Parkinson's disease		ISO	RGD:11252	D	RGD:9068941	20200609	RGD			PMID:21725169|REF_RGD_ID:5508763
12114671	S100B	S100 calcium binding protein B	gene	DOID:1440	Machado-Joseph disease		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21743141|REF_RGD_ID:5508762
12114671	S100B	S100 calcium binding protein B	gene	DOID:1596	depressive disorder		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:21843601|REF_RGD_ID:5508824
12114671	S100B	S100 calcium binding protein B	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737117	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
12114671	S100B	S100 calcium binding protein B	gene	DOID:2316	brain ischemia		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21695352|REF_RGD_ID:5508764
12114671	S100B	S100 calcium binding protein B	gene	DOID:2366	West Nile fever		ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:19790244|REF_RGD_ID:5508797
12114671	S100B	S100 calcium binding protein B	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, cerebrospinal fluid	PMID:12076997|REF_RGD_ID:5508822
12114671	S100B	S100 calcium binding protein B	gene	DOID:3213	demyelinating disease		ISO	RGD:3615	D	RGD:9068941	20200609	RGD			PMID:21885671|REF_RGD_ID:5508823
12114671	S100B	S100 calcium binding protein B	gene	DOID:3312	bipolar disorder		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:15581912|REF_RGD_ID:5508853
12114671	S100B	S100 calcium binding protein B	gene	DOID:3312	bipolar disorder		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15581912|PMID:16476148
12114671	S100B	S100 calcium binding protein B	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:3615	D	RGD:9068941	20230921	RGD		protein:increased expression:cerebrum, astrocyte	PMID:23595285|REF_RGD_ID:401794586
12114671	S100B	S100 calcium binding protein B	gene	DOID:4724	brain edema		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19147496|REF_RGD_ID:5508832
12114671	S100B	S100 calcium binding protein B	gene	DOID:4724	brain edema		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027832
12114671	S100B	S100 calcium binding protein B	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:737117	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
12114671	S100B	S100 calcium binding protein B	gene	DOID:5154	borna disease		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebellum, cerebral cortex	PMID:17376896|REF_RGD_ID:5508841
12114671	S100B	S100 calcium binding protein B	gene	DOID:5419	schizophrenia		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19539717|REF_RGD_ID:5508799
12114671	S100B	S100 calcium binding protein B	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:737117	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:3' utr, cds:5748C>T, 2757C>G (rs9722, rs1051169) (human)	PMID:15670788|REF_RGD_ID:14696780
12114671	S100B	S100 calcium binding protein B	gene	DOID:5844	myocardial infarction		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:left ventricle myocardium, plasma	PMID:19910580|REF_RGD_ID:2325647
12114671	S100B	S100 calcium binding protein B	gene	DOID:5844	myocardial infarction		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9788975
12114671	S100B	S100 calcium binding protein B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114671	S100B	S100 calcium binding protein B	gene	DOID:8869	neuromyelitis optica		ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:21371524|REF_RGD_ID:5508767
12114671	S100B	S100 calcium binding protein B	gene	DOID:9000794	Sporadic Creutzfeldt-Jakob Disease		ISO	RGD:737117	D	RGD:9068941	20210625	RGD		protein:increased expression:serum (human)	PMID:27929120|REF_RGD_ID:127284887
12114671	S100B	S100 calcium binding protein B	gene	DOID:9000930	Dental Pulp Exposure		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte	PMID:20043976|REF_RGD_ID:5508788
12114671	S100B	S100 calcium binding protein B	gene	DOID:9000998	Brain Injuries		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11520488|PMID:21783483
12114671	S100B	S100 calcium binding protein B	gene	DOID:9000998	Brain Injuries	severity	ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:21976236|REF_RGD_ID:5508761
12114671	S100B	S100 calcium binding protein B	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21663912|REF_RGD_ID:5508825
12114671	S100B	S100 calcium binding protein B	gene	DOID:9002407	Spinal Fractures		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20304889|REF_RGD_ID:5508786
12114671	S100B	S100 calcium binding protein B	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027832
12114671	S100B	S100 calcium binding protein B	gene	DOID:9002676	Cerebral Hemorrhage	disease_progression	ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:19505208|REF_RGD_ID:5508801
12114671	S100B	S100 calcium binding protein B	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:737117	D	RGD:9068941	20200609	RGD		associated with Asphyxia Neonatorum;protein:increased expression:urine	PMID:14707571|REF_RGD_ID:5508819
12114671	S100B	S100 calcium binding protein B	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:737117	D	RGD:9068941	20221020	RGD		protein:increased expression:blood serum (human)	PMID:29568675|REF_RGD_ID:155598592
12114671	S100B	S100 calcium binding protein B	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3615	D	RGD:9068941	20200609	RGD			PMID:18840784|REF_RGD_ID:5508834
12114671	S100B	S100 calcium binding protein B	gene	DOID:9004442	Diffuse Brain Injuries		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30076900
12114671	S100B	S100 calcium binding protein B	gene	DOID:9004484	Sepsis		ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:19809934|REF_RGD_ID:5508796
12114671	S100B	S100 calcium binding protein B	gene	DOID:9004871	Mercury Poisoning, Nervous System		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30076900
12114671	S100B	S100 calcium binding protein B	gene	DOID:9005372	Inflammation		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		associated with Stroke	PMID:21034449|REF_RGD_ID:5508779
12114671	S100B	S100 calcium binding protein B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:altered expression:hippocampus, astrocyte	PMID:18708122|REF_RGD_ID:5508836
12114671	S100B	S100 calcium binding protein B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellum, cerebral cortex, hippocampus	PMID:14583344|REF_RGD_ID:5508821
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006013	Hematoma		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		associated with Stroke;protein:increased expression:serum	PMID:19147496|REF_RGD_ID:5508832
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006013	Hematoma		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027832
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006024	Hypotension		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17944636|REF_RGD_ID:5508837
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737117	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:12888777|PMID:34792689
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006302	Binge Drinking		ISO	RGD:3615	D	RGD:9068941	20250130	RGD		mRNA:increased expression:frontal cortex	PMID:23867237|REF_RGD_ID:597538460
12114671	S100B	S100 calcium binding protein B	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:3615	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12114671	S100B	S100 calcium binding protein B	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3615	D	RGD:9068941	20241214	RGD		protein:increased expression:cerebrospinal fluid	PMID:15464860|REF_RGD_ID:5509052
12114671	S100B	S100 calcium binding protein B	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:3615	D	RGD:9068941	20241207	RGD			PMID:21402140|REF_RGD_ID:5508766
12114671	S100B	S100 calcium binding protein B	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935819
12114671	S100B	S100 calcium binding protein B	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:myocardium	PMID:21663912|REF_RGD_ID:5508825
12114671	S100B	S100 calcium binding protein B	gene	DOID:9008763	Femoral Fractures		ISO	RGD:3615	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:14504167|REF_RGD_ID:5509053
12114671	S100B	S100 calcium binding protein B	gene	DOID:9009161	Attention Deficit and Disruptive Behavior Disorders		ISO	RGD:737117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25451971
12114671	S100B	S100 calcium binding protein B	gene	DOID:936	brain disease	disease_progression	ISO	RGD:737117	D	RGD:9068941	20200609	RGD			PMID:20847541|REF_RGD_ID:5508782
12114671	S100B	S100 calcium binding protein B	gene	DOID:9470	bacterial meningitis		ISO	RGD:737117	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:15105355|REF_RGD_ID:5508818
12114717	RASSF4	Ras association domain family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:1115	sarcoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:1909	melanoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12114717	RASSF4	Ras association domain family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114717	RASSF4	Ras association domain family member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:1324	lung cancer		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:1909	melanoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:4362	cervical cancer		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347503	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12114736	SLC22A23	solute carrier family 22 member 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351476	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:9004890	Paranoid Disorders		ISO	RGD:1351476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:9004890	Paranoid Disorders	susceptibility	ISO	RGD:1351476	D	RGD:9068941	20231102	RGD		associated with cocaine dependence;DNA:SNP:: (rs936013) (human)	PMID:18438686|REF_RGD_ID:401851917
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1351476	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
12114751	ICE2	interactor of little elongation complex ELL subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313436	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114783	ATPAF1	ATP synthase mitochondrial F1 complex assembly factor 1	gene	DOID:9970	obesity		ISO	RGD:1313436	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 88	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:1324	lung cancer		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:1909	melanoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9007235	Hydatidiform Mole, Recurrent, 4		ISO	RGD:1605958	D	RGD:7240710	20190619	OMIM			
12114796	TOP6BL	TOP6B like initiator of meiotic double strand breaks	gene	DOID:9007235	Hydatidiform Mole, Recurrent, 4		ISO	RGD:1605958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYDATIDIFORM MOLE, RECURRENT, 4 | ClinVar Annotator: match by term: Hydatidiform mole, recurrent, 4	PMID:25741868|PMID:30388401
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323251	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1323251	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114816	TCF7L1	transcription factor 7 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313930	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12114832	MKNK2	MAPK interacting serine/threonine kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:1324	lung cancer		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:1909	melanoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:3275	thymoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12115014	PSMD7	proteasome 26S subunit, non-ATPase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115025	NENF	neudesin neurotrophic factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115025	NENF	neudesin neurotrophic factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115025	NENF	neudesin neurotrophic factor	gene	DOID:2394	ovarian cancer		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12115025	NENF	neudesin neurotrophic factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115025	NENF	neudesin neurotrophic factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603399	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606748	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115031	TADA1	transcriptional adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115043	NANS	N-acetylneuraminate synthase	gene	DOID:0080006	bone development disease		ISO	RGD:1323660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27213289
12115043	NANS	N-acetylneuraminate synthase	gene	DOID:0080576	spondyloepimetaphyseal dysplasia, Genevieve-type		ISO	RGD:1323660	D	RGD:7240710	20190315	OMIM			
12115043	NANS	N-acetylneuraminate synthase	gene	DOID:12712	nephronophthisis		ISO	RGD:1323660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12872123|PMID:28492532
12115043	NANS	N-acetylneuraminate synthase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27213289
12115053	DBX1	developing brain homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115053	DBX1	developing brain homeobox 1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1605302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12115053	DBX1	developing brain homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115078	WNT2	Wnt family member 2	gene	DOID:10283	prostate cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland	PMID:14517837|REF_RGD_ID:727214
12115078	WNT2	Wnt family member 2	gene	DOID:1115	sarcoma		ISO	RGD:736431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115078	WNT2	Wnt family member 2	gene	DOID:12849	autistic disorder		ISO	RGD:736431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11449391|PMID:19895723
12115078	WNT2	Wnt family member 2	gene	DOID:1612	breast cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:15736421|REF_RGD_ID:2291874
12115078	WNT2	Wnt family member 2	gene	DOID:2871	endometrial carcinoma		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium	PMID:9099960|REF_RGD_ID:2291875
12115078	WNT2	Wnt family member 2	gene	DOID:3070	high grade glioma		ISO	RGD:736431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115078	WNT2	Wnt family member 2	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:736431	D	RGD:9068941	20200609	RGD		DNA:amplification:breast	PMID:7903963|REF_RGD_ID:2291879
12115078	WNT2	Wnt family member 2	gene	DOID:3996	urinary system cancer		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:8064891|REF_RGD_ID:2291877
12115078	WNT2	Wnt family member 2	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:736431	D	RGD:9068941	20200609	RGD		associated with hepatitis B;DNA:SNP: :rs4730775(human)	PMID:28328801|REF_RGD_ID:14402040
12115078	WNT2	Wnt family member 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:736431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
12115078	WNT2	Wnt family member 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|PMID:9419423|REF_RGD_ID:2298848|REF_RGD_ID:2298863
12115078	WNT2	Wnt family member 2	gene	DOID:9006947	Fibroadenoma		ISO	RGD:736431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:8168088|REF_RGD_ID:2291878
12115078	WNT2	Wnt family member 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621346	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus	PMID:14625142|REF_RGD_ID:2326231
12115100	JAGN1	jagunal homolog 1	gene	DOID:0050590	severe congenital neutropenia		ISO	RGD:1342770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Severe congenital neutropenia	PMID:25129144|PMID:25741868|PMID:27980538|PMID:28492532|PMID:33206996
12115100	JAGN1	jagunal homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115100	JAGN1	jagunal homolog 1	gene	DOID:0111227	frontotemporal dementia and/or amyotrophic lateral sclerosis 7		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	PMID:25741868
12115100	JAGN1	jagunal homolog 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:7240710	20180130	OMIM			
12115100	JAGN1	jagunal homolog 1	gene	DOID:0112134	severe congenital neutropenia 6		ISO	RGD:1342770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive	PMID:17576681|PMID:25129144|PMID:25741868|PMID:25851723|PMID:28492532|PMID:32419428|PMID:37528877|PMID:9536098
12115100	JAGN1	jagunal homolog 1	gene	DOID:1227	neutropenia		ISO	RGD:1342770	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129144|PMID:25129145
12115100	JAGN1	jagunal homolog 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115100	JAGN1	jagunal homolog 1	gene	DOID:630	genetic disease		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12115100	JAGN1	jagunal homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115106	TYR	tyrosinase	gene	DOID:0050632	oculocutaneous albinism		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oculocutaneous albinism	PMID:10671066|PMID:10987646|PMID:12028580|PMID:13680365|PMID:15146472|PMID:15381243|PMID:15885985|PMID:16098056|PMID:16170149|PMID:1642278|PMID:16907708|PMID:17576681|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19208379|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:23010199|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26764160|PMID:27537549|PMID:27734839|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30679655|PMID:30868578|PMID:31077556|PMID:32115698|PMID:32411182|PMID:32849781|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:35754085|PMID:35803923|PMID:35870188|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:8477259|PMID:9163730|PMID:9536098
12115106	TYR	tyrosinase	gene	DOID:0050632	oculocutaneous albinism	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:15250938|REF_RGD_ID:8694345
12115106	TYR	tyrosinase	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
12115106	TYR	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALBINISM I | ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IA | ClinVar Annotator: match by term: Albinism, oculocutaneous, type IA | ClinVar Annotator: match by term: OCA1 | ClinVar Annotator: match by term: Oculocutaneous albinism type 1 | ClinVar Annotator: match by term: Oculocutaneous albinism type 1A | ClinVar Annotator: match by term: Tyrosinase-negative oculocutaneous albinism	PMID:10671066|PMID:10987646|PMID:11284711|PMID:11295837|PMID:12028580|PMID:12724309|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:16170149|PMID:16199547|PMID:1642278|PMID:16517127|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1899321|PMID:1900309|PMID:1903591|PMID:1905879|PMID:19060277|PMID:19208379|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21458243|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:22981120|PMID:23504663|PMID:24033266|PMID:24123366|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25333069|PMID:25455140|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26167114|PMID:26764160|PMID:27537549|PMID:27666373|PMID:27734839|PMID:27775880|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28640309|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30447237|PMID:30472657|PMID:30679655|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31229681|PMID:32115698|PMID:32411182|PMID:32552135|PMID:32581362|PMID:32901917|PMID:32969595|PMID:33223529|PMID:34008892|PMID:34838614|PMID:34897530|PMID:35328057|PMID:35488210|PMID:35729001|PMID:35803923|PMID:36413997|PMID:37471664|PMID:38030918|PMID:38219857|PMID:39218412|PMID:39457547|PMID:41194031|PMID:41292147|PMID:41428507|PMID:7704033|PMID:7886000|PMID:7955413|PMID:8026428|PMID:8128955|PMID:8217557|PMID:8434585|PMID:8477259|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098
12115106	TYR	tyrosinase	gene	DOID:0070094	oculocutaneous albinism type IA	treatment	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:19436266|REF_RGD_ID:8694335
12115106	TYR	tyrosinase	gene	DOID:0070095	oculocutaneous albinism type IB		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
12115106	TYR	tyrosinase	gene	DOID:0070095	oculocutaneous albinism type IB		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE IB | ClinVar Annotator: match by term: Oculocutaneous albinism type 1B | ClinVar Annotator: match by term: YELLOW ALBINISM | ClinVar Annotator: match by term: Yellow albinism	PMID:10671066|PMID:10987646|PMID:11295837|PMID:12028580|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:16170149|PMID:16199547|PMID:1642278|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1900309|PMID:19060277|PMID:19208379|PMID:1943686|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26764160|PMID:27537549|PMID:27734839|PMID:27775880|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30679655|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32411182|PMID:32552135|PMID:32581362|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:35803923|PMID:37471664|PMID:37946251|PMID:38219857|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8434585|PMID:8477259|PMID:9163730|PMID:9536098
12115106	TYR	tyrosinase	gene	DOID:10376	amblyopia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:10534	stomach cancer		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:11211	buphthalmos		ISO	RGD:11466	D	RGD:9068941	20220825	MouseDO		OMIM:231300	
12115106	TYR	tyrosinase	gene	DOID:11252	microcytic anemia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
12115106	TYR	tyrosinase	gene	DOID:11782	astigmatism		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:11830	myopia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:12306	vitiligo		ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:22834951|REF_RGD_ID:8694387
12115106	TYR	tyrosinase	gene	DOID:12306	vitiligo	severity	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:8697641|REF_RGD_ID:8694409
12115106	TYR	tyrosinase	gene	DOID:12849	autistic disorder		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:16907708|PMID:1943686|PMID:19865097|PMID:20861851|PMID:25741868|PMID:27734839|PMID:28266639|PMID:28492532|PMID:32115698
12115106	TYR	tyrosinase	gene	DOID:13620	patent foramen ovale		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
12115106	TYR	tyrosinase	gene	DOID:1588	thrombocytopenia		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
12115106	TYR	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138
12115106	TYR	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138
12115106	TYR	tyrosinase	gene	DOID:1612	breast cancer		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
12115106	TYR	tyrosinase	gene	DOID:1826	epilepsy		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:16907708|PMID:1943686|PMID:19865097|PMID:20861851|PMID:25741868|PMID:27734839|PMID:28266639|PMID:28492532|PMID:32115698
12115106	TYR	tyrosinase	gene	DOID:1891	optic nerve disease		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:20861488|PMID:25741868|PMID:28492532|PMID:34897530
12115106	TYR	tyrosinase	gene	DOID:1909	melanoma		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027|PMID:19578364|PMID:21559390|PMID:26640592
12115106	TYR	tyrosinase	gene	DOID:1909	melanoma		ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:22834951|REF_RGD_ID:8694387
12115106	TYR	tyrosinase	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:8609659|REF_RGD_ID:8694384
12115106	TYR	tyrosinase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027
12115106	TYR	tyrosinase	gene	DOID:2615	papilloma	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:15007389|REF_RGD_ID:8694346
12115106	TYR	tyrosinase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:3459	breast carcinoma		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:4448	macular degeneration		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:5679	retinal disease		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10987646|PMID:12753405|PMID:13680365|PMID:15146472|PMID:18326704|PMID:18463683|PMID:18821858|PMID:1903591|PMID:1970634|PMID:24033266|PMID:25741868|PMID:28451379|PMID:28492532|PMID:29345414|PMID:8434585|PMID:8477259
12115106	TYR	tyrosinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1346000	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:18463683|PMID:25216246|PMID:27734839|PMID:28492532
12115106	TYR	tyrosinase	gene	DOID:630	genetic disease		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115106	TYR	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:666627|PMID:7704033|PMID:9158138
12115106	TYR	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10766867|PMID:1429711|PMID:17952075|PMID:1820207|PMID:18326704|PMID:18488027|PMID:18488028|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:666627|PMID:7704033|PMID:9158138
12115106	TYR	tyrosinase	gene	DOID:6846	familial melanoma		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO	PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
12115106	TYR	tyrosinase	gene	DOID:8465	retinoschisis	treatment	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD			PMID:20876567|REF_RGD_ID:8694343
12115106	TYR	tyrosinase	gene	DOID:8923	skin melanoma	susceptibility	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R402Q(human)	PMID:21906913|REF_RGD_ID:8694390
12115106	TYR	tyrosinase	gene	DOID:9000307	Presbycusis	onset	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:19141317|REF_RGD_ID:8694327
12115106	TYR	tyrosinase	gene	DOID:9000307	Presbycusis	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD		associated with Albinism;	PMID:19843244|REF_RGD_ID:8694324
12115106	TYR	tyrosinase	gene	DOID:9000570	Skin/Hair/Eye Pigmentation, Variation In, 3		ISO	RGD:1346000	D	RGD:7240710	20260722	OMIM			
12115106	TYR	tyrosinase	gene	DOID:9000570	Skin/Hair/Eye Pigmentation, Variation In, 3		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING | ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | ClinVar Annotator: match by term: Skin/hair/eye pigmentation, variation in, 3	PMID:10987646|PMID:11295837|PMID:12028580|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16098056|PMID:16170149|PMID:1642278|PMID:1676041|PMID:16907708|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18821858|PMID:18925668|PMID:1900309|PMID:1905879|PMID:19060277|PMID:19208379|PMID:1943686|PMID:19533789|PMID:19626598|PMID:1970634|PMID:19865097|PMID:20301345|PMID:20861488|PMID:20861851|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22981120|PMID:23504663|PMID:24033266|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:26764160|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30679655|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33612058|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:35803923|PMID:37471664|PMID:38219857|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8434585|PMID:8477259|PMID:9163730|PMID:9259202|PMID:9536098
12115106	TYR	tyrosinase	gene	DOID:9000965	Neoplasm Metastasis	no_association	ISO	RGD:1346000	D	RGD:9068941	20200609	RGD		associated with melanoma;	PMID:11092039|REF_RGD_ID:8694395
12115106	TYR	tyrosinase	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Choroidal neovascularization	PMID:11295837|PMID:1429711|PMID:15146472|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25577957|PMID:25741868|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:31077556|PMID:35803923|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:9001386	Albinism		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Albinism	PMID:10987646|PMID:11295837|PMID:12028580|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16170149|PMID:1642278|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18925668|PMID:1900309|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21985232|PMID:22042571|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24392141|PMID:24721949|PMID:25216246|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27959697|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28667292|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30868578|PMID:31077556|PMID:32411182|PMID:32581362|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:35803923|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:8477259|PMID:9163730|PMID:9259202
12115106	TYR	tyrosinase	gene	DOID:9001386	Albinism	treatment	ISO	RGD:11466	D	RGD:9068941	20200609	RGD			PMID:2112453|REF_RGD_ID:8694355
12115106	TYR	tyrosinase	gene	DOID:9001581	Constipation		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:1429711|PMID:15146472|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:26165494|PMID:28378818|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
12115106	TYR	tyrosinase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1346000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:19865097|PMID:2113511|PMID:2120217|PMID:21985232|PMID:22042571|PMID:22294196|PMID:25703744|PMID:25741868|PMID:28492532|PMID:31077556
12115106	TYR	tyrosinase	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia | ClinVar Annotator: match by term: foveal hypoplasia	PMID:11295837|PMID:1429711|PMID:15146472|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25577957|PMID:25741868|PMID:26165494|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:31077556|PMID:35803923|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:9003119	Nonsyndromic Oculocutaneous Albinism		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Oculocutaneous Albinism	PMID:13680365|PMID:15381243|PMID:15937636|PMID:16098056|PMID:16907708|PMID:18326704|PMID:18463683|PMID:19060277|PMID:1943686|PMID:19626598|PMID:19865097|PMID:20861488|PMID:20861851|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25741868|PMID:25919014|PMID:27734839|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:30868578|PMID:31077556|PMID:32115698|PMID:32411182|PMID:32581362|PMID:33223529|PMID:33800529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:37471664|PMID:38030918|PMID:39457547|PMID:41428507|PMID:8026428|PMID:8128955|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1346000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488027
12115106	TYR	tyrosinase	gene	DOID:9004595	Diastema		ISO	RGD:1346000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	
12115106	TYR	tyrosinase	gene	DOID:9005389	Oculocutaneous Albinism Type I, Temperature-Sensitive		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE | ClinVar Annotator: match by term: TYR-related condition	PMID:10823941|PMID:10987646|PMID:11284711|PMID:11829136|PMID:12028580|PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:15635296|PMID:16056219|PMID:16199547|PMID:1642278|PMID:16570240|PMID:1676041|PMID:1711223|PMID:17576681|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18701257|PMID:18925668|PMID:1900309|PMID:1905879|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20806075|PMID:20861488|PMID:2113511|PMID:2120217|PMID:21541274|PMID:21906913|PMID:21985232|PMID:22042571|PMID:22294196|PMID:22734612|PMID:23010199|PMID:23085273|PMID:23324268|PMID:2342539|PMID:23504663|PMID:24033266|PMID:24461674|PMID:24721949|PMID:2511845|PMID:25216246|PMID:25577957|PMID:25703744|PMID:25741868|PMID:25919014|PMID:26165494|PMID:27537549|PMID:27734839|PMID:27775880|PMID:27829221|PMID:27959697|PMID:28112372|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28771251|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30868578|PMID:30996339|PMID:31077556|PMID:31199599|PMID:31719542|PMID:32411182|PMID:32552135|PMID:32849781|PMID:33124154|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35379600|PMID:35729001|PMID:35803923|PMID:37327787|PMID:37471664|PMID:39457547|PMID:41428507|PMID:6|PMID:7|PMID:7704033|PMID:7902671|PMID:7955413|PMID:8128955|PMID:8217557|PMID:8430701|PMID:8434585|PMID:9163730|PMID:9242509|PMID:9259202|PMID:9536098
12115106	TYR	tyrosinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:1429711|PMID:15146472|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:26165494|PMID:28378818|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
12115106	TYR	tyrosinase	gene	DOID:9005616	Micrognathism		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:16907708|PMID:20301345|PMID:25741868|PMID:26165494|PMID:28378818|PMID:28492532
12115106	TYR	tyrosinase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1346000	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:16098056|PMID:25216246|PMID:25741868|PMID:28266639|PMID:28492532|PMID:31077556|PMID:33800529|PMID:8026428
12115106	TYR	tyrosinase	gene	DOID:9009047	Laryngeal Cleft		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Laryngeal cleft	PMID:1429711|PMID:15146472|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:26165494|PMID:28378818|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033
12115106	TYR	tyrosinase	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ocular albinism with congenital sensorineural hearing loss	PMID:13680365|PMID:19060277|PMID:21906913|PMID:25577957|PMID:25741868|PMID:26764160|PMID:27734839|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:30679655|PMID:31077556|PMID:34008892|PMID:7704033|PMID:7955413
12115106	TYR	tyrosinase	gene	DOID:9649	congenital nystagmus		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:10987646|PMID:1429711|PMID:15146472|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18925668|PMID:19208379|PMID:19533789|PMID:20301345|PMID:21541274|PMID:23504663|PMID:25216246|PMID:25741868|PMID:26165494|PMID:27734839|PMID:27959697|PMID:28378818|PMID:28492532|PMID:30472657|PMID:35803923|PMID:7704033|PMID:9259202
12115106	TYR	tyrosinase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus | ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: nystagmus	PMID:13680365|PMID:1429711|PMID:15146472|PMID:15381243|PMID:16907708|PMID:1820207|PMID:18326704|PMID:18463683|PMID:18925668|PMID:19060277|PMID:19208379|PMID:19533789|PMID:19626598|PMID:19865097|PMID:20301345|PMID:20861488|PMID:21541274|PMID:22294196|PMID:23504663|PMID:24033266|PMID:24721949|PMID:25216246|PMID:25577957|PMID:25741868|PMID:25919014|PMID:26165494|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30472657|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:35803923|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:9834	hyperopia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25577957|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28378818|PMID:28451379|PMID:28492532|PMID:28629449|PMID:28976636|PMID:29345414|PMID:29658579|PMID:30868578|PMID:31077556|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:7704033|PMID:7955413|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:9840	esotropia		ISO	RGD:1346000	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esophoria	PMID:13680365|PMID:15381243|PMID:18326704|PMID:18463683|PMID:19060277|PMID:19626598|PMID:19865097|PMID:20861488|PMID:22294196|PMID:24033266|PMID:24721949|PMID:25741868|PMID:25919014|PMID:28266639|PMID:28451379|PMID:28492532|PMID:28629449|PMID:29345414|PMID:30868578|PMID:32411182|PMID:33223529|PMID:34008892|PMID:34838614|PMID:35328057|PMID:35729001|PMID:39457547|PMID:41428507|PMID:8217557|PMID:9163730
12115106	TYR	tyrosinase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1346000	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25577957|PMID:25741868|PMID:28378818|PMID:28492532|PMID:28976636|PMID:29658579|PMID:31077556|PMID:7704033|PMID:7955413
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:10534	stomach cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:1324	lung cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:1909	melanoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:2394	ovarian cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:4362	cervical cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1313642	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115115	EPS15	epidermal growth factor receptor pathway substrate 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1319167	D	RGD:9068941	20200609	RGD			PMID:14871982|REF_RGD_ID:2293530
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:1115	sarcoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:11633	thyroid hormone resistance syndrome		ISO	RGD:1319168	D	RGD:9068941	20220825	MouseDO		OMIM:188570 | OMIM:274300	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:1324	lung cancer		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1309046	D	RGD:9068941	20200609	RGD		mRNA:altered expression:brain	PMID:11850121|REF_RGD_ID:2306463
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1319167	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:14751175|REF_RGD_ID:2298984
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:289	endometriosis		ISO	RGD:1319167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:3275	thymoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1319167	D	RGD:9068941	20200609	RGD			PMID:17902051|REF_RGD_ID:2293529
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319167	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1319167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21080969
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12237244
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1319167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21080969
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20332317
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115132	NCOA1	nuclear receptor coactivator 1	gene	DOID:9970	obesity		ISO	RGD:1319168	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1324	lung cancer		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12115173	HECW1	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:0050486	exanthem		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:0060058	lymphoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:0060249	scoliosis		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:10211	cholelithiasis		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholelithiasis	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:11252	microcytic anemia		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcytic anemia	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:12859	choreatic disease		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:1324	lung cancer		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:733865	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:13452	scleritis		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Episcleritis	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:1555	urticaria		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:1558	angioedema		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:1909	melanoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:2355	anemia		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:2913	acute pancreatitis		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute pancreatitis	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:6039	uveal melanoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:630	genetic disease		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:733865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596|PMID:30224649
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:848	arthritis		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9003353	Systemic Lupus Erythematosus 16		ISO	RGD:733865	D	RGD:7240710	20180130	OMIM			
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9003353	Systemic Lupus Erythematosus 16		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DNASE1L3-related condition | ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS 16 | ClinVar Annotator: match by term: Systemic lupus erythematosus 16	PMID:22019780|PMID:24206041|PMID:25741868|PMID:27821515|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9004751	Nausea		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21720004
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9005734	Abdominal Pain		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9007661	Dwarfism		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9008589	Hallux Valgus		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:25741868|PMID:28492532
12115207	DNASE1L3	deoxyribonuclease 1L3	gene	DOID:9477	pulmonary embolism		ISO	RGD:733865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1603023	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:3275	thymoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115219	TMX4	thioredoxin related transmembrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:7240710	20190315	OMIM			
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:0111915	spermatogenic failure 33		ISO	RGD:1606715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CFAP251-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 33 | ClinVar Annotator: match by term: Spermatogenic failure 33 | ClinVar Annotator: match by term: spermatogenic failure 33	PMID:25741868|PMID:30122541
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:10534	stomach cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:1115	sarcoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:1324	lung cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:4362	cervical cancer		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1606715	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: asthenozoospermia	PMID:30122541
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115231	CFAP251	cilia and flagella associated protein 251	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0060249	scoliosis		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0070133	autosomal recessive cutis laxa type IB		ISO	RGD:1320598	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1B	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0110347	osteogenesis imperfecta type 15		ISO	RGD:1320598	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 15	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:14755501|PMID:25741868|PMID:28492532|PMID:33879512|PMID:38764721
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868|PMID:26789422|PMID:28492532|PMID:34426522|PMID:34946936|PMID:36628840
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1115	sarcoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:11162	respiratory failure		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:12215	oligohydramnios		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1307	dementia		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868|PMID:26789422|PMID:28492532|PMID:34426522|PMID:34946936|PMID:36628840
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1324	lung cancer		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1826	epilepsy		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:1909	melanoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:15452297|PMID:16199547|PMID:19813197|PMID:20058079|PMID:22305237|PMID:23218673|PMID:23352160|PMID:24033266|PMID:25489661|PMID:25741868|PMID:26166723|PMID:26886200|PMID:28492532|PMID:28507268|PMID:29379554|PMID:30569318|PMID:31131953|PMID:31980526|PMID:35627109|PMID:38012812
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:7240710	20180130	OMIM			
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GBE1-Related Disorders | ClinVar Annotator: match by term: GBE1-related disorder | ClinVar Annotator: match by term: Glycogen storage disease IV | ClinVar Annotator: match by term: Glycogen storage disease due to glycogen branching enzyme deficiency | ClinVar Annotator: match by term: Glycogen storage disease type IV | ClinVar Annotator: match by term: Glycogen storage disease, type IV	PMID:10545044|PMID:10762170|PMID:12874416|PMID:12913206|PMID:14755501|PMID:15019703|PMID:15452297|PMID:15520786|PMID:16199547|PMID:16278887|PMID:16528737|PMID:16874838|PMID:17576681|PMID:17662246|PMID:17994551|PMID:18230843|PMID:18661138|PMID:19763152|PMID:19813197|PMID:20058079|PMID:20301758|PMID:20307669|PMID:20479904|PMID:20532556|PMID:20655781|PMID:21075835|PMID:21917543|PMID:22305237|PMID:22406018|PMID:22899091|PMID:23014386|PMID:23034915|PMID:23218673|PMID:23266647|PMID:24082139|PMID:24248152|PMID:25133958|PMID:25356970|PMID:25544507|PMID:25640679|PMID:25665141|PMID:25728520|PMID:25741868|PMID:26199317|PMID:26385640|PMID:26789422|PMID:26886200|PMID:27107456|PMID:27243974|PMID:27528516|PMID:27546458|PMID:28492532|PMID:28716262|PMID:28973083|PMID:29379554|PMID:30228975|PMID:30293248|PMID:30303820|PMID:30311141|PMID:30345254|PMID:30569318|PMID:31127727|PMID:31207142|PMID:31209396|PMID:31319225|PMID:31589614|PMID:31680123|PMID:31690835|PMID:31747834|PMID:31974414|PMID:31980526|PMID:32153140|PMID:32617483|PMID:32746448|PMID:33060286|PMID:33141444|PMID:33332610|PMID:33344388|PMID:33348688|PMID:33517539|PMID:33726816|PMID:33772059|PMID:33782433|PMID:33879512|PMID:33897756|PMID:34297361|PMID:34426522|PMID:34906519|PMID:34946936|PMID:35606495|PMID:36628840|PMID:36690925|PMID:36697461|PMID:36703223|PMID:36830903|PMID:37152446|PMID:37273706|PMID:37510298|PMID:37598009|PMID:37628374|PMID:38012812|PMID:38164512|PMID:38516405|PMID:38545656|PMID:38592052|PMID:38764721|PMID:38912588|PMID:39825153|PMID:40812839|PMID:41308240|PMID:8613547|PMID:9536098|PMID:9851430
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2841	asthma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1320598	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2307058 (human)	PMID:28355295|REF_RGD_ID:18337291
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:2975	cystic kidney disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868|PMID:28492532|PMID:33782433
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:3275	thymoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:630	genetic disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14755501|PMID:25741868|PMID:28492532|PMID:33782433|PMID:38764721
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:674	cleft palate		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9000820	GSD IV, Classic Hepatic		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GSD IV, CLASSIC HEPATIC	PMID:14755501|PMID:16528737|PMID:17576681|PMID:25741868|PMID:26789422|PMID:28492532|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:38764721|PMID:8613547|PMID:9536098
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9001716	Hip Contracture		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532|PMID:33782433
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006655	GSD IV, Neuromuscular Form, Fatal Perinatal		ISO	RGD:1320598	D	RGD:9068941	20260521	RGD		DNA:missense mutations, nonsense mutation, splice site mutation:exons, intron: multiple	PMID:30303820|REF_RGD_ID:18337290
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006846	Dysuria		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysuria	PMID:14755501|PMID:25741868|PMID:28492532|PMID:38764721
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:14755501|PMID:25741868|PMID:28492532|PMID:38764721
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006915	GSD IV, combined hepatic and myopathic		ISO	RGD:1320598	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007497	Polyglucosan Body Disease, Adult Form		ISO	RGD:1320598	D	RGD:7240710	20180130	OMIM			
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007497	Polyglucosan Body Disease, Adult Form		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adult Polyglucosan Body Disease | ClinVar Annotator: match by term: Adult polyglucosan body disease | ClinVar Annotator: match by term: POLYGLUCOSAN BODY DISEASE, ADULT FORM | ClinVar Annotator: match by term: Polyglucosan body disease, adult form	PMID:10545044|PMID:10762170|PMID:12874416|PMID:14755501|PMID:15452297|PMID:16199547|PMID:16528737|PMID:17576681|PMID:20058079|PMID:20479904|PMID:25665141|PMID:25741868|PMID:26199317|PMID:26789422|PMID:26886200|PMID:27243974|PMID:27546458|PMID:28492532|PMID:30303820|PMID:33332610|PMID:33473341|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:37598009|PMID:38764721|PMID:8613547|PMID:9536098
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9007811	Familial Cirrhosis with Deposition of Abnormal Glycogen		ISO	RGD:1320598	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cirrhosis, familial, with deposition of abnormal glycogen	PMID:16528737|PMID:17576681|PMID:25741868|PMID:26789422|PMID:28492532|PMID:33782433|PMID:33879512|PMID:34426522|PMID:34946936|PMID:36628840|PMID:8613547|PMID:9536098
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33782433
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	PMID:25741868|PMID:28492532|PMID:33879512
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115257	GBE1	1,4-alpha-glucan branching enzyme 1	gene	DOID:936	brain disease		ISO	RGD:1320598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:3070	high grade glioma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1606812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115277	ELP5	elongator acetyltransferase complex subunit 5	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:10283	prostate cancer		ISO	RGD:733316	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:10283	prostate cancer		ISO	RGD:733316	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:14330	Parkinson's disease		ISO	RGD:733316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18619942
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30512237
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115291	KCNJ4	potassium inwardly rectifying channel subfamily J member 4	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18619942
12115306	CDKN2AIPNL	CDKN2A interacting protein N-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115306	CDKN2AIPNL	CDKN2A interacting protein N-terminal like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115306	CDKN2AIPNL	CDKN2A interacting protein N-terminal like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602992	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12115313	TSTD2	thiosulfate sulfurtransferase like domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115330	TBC1D22B	TBC1 domain family member 22B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115330	TBC1D22B	TBC1 domain family member 22B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115330	TBC1D22B	TBC1 domain family member 22B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115330	TBC1D22B	TBC1 domain family member 22B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115330	TBC1D22B	TBC1 domain family member 22B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12115346	GJB3	gap junction protein beta 3	gene	DOID:0050467	erythrokeratodermia variabilis		ISO	RGD:1347813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA, PROGRESSIVE SYMMETRIC | ClinVar Annotator: match by term: erythrokeratodermia variabilis	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:35677558
12115346	GJB3	gap junction protein beta 3	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:1347813	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss	PMID:25741868|PMID:28492532
12115346	GJB3	gap junction protein beta 3	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1347813	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs9118) C>G (human)	PMID:27354594|REF_RGD_ID:152177496
12115346	GJB3	gap junction protein beta 3	gene	DOID:0110328	hypertrophic cardiomyopathy 25		ISO	RGD:1347813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 25	
12115346	GJB3	gap junction protein beta 3	gene	DOID:0110475	autosomal recessive nonsyndromic deafness 1A		ISO	RGD:1347813	D	RGD:7240710	20240529	OMIM			
12115346	GJB3	gap junction protein beta 3	gene	DOID:0110475	autosomal recessive nonsyndromic deafness 1A		ISO	RGD:1347813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, DIGENIC, GJB2/GJB3 | ClinVar Annotator: match by term: Deafness, autosomal recessive 1A	PMID:12791041|PMID:19050930|PMID:24033266|PMID:25741868|PMID:28492532
12115346	GJB3	gap junction protein beta 3	gene	DOID:0110559	autosomal dominant nonsyndromic deafness 2B		ISO	RGD:1347813	D	RGD:7240710	20240529	OMIM			
12115346	GJB3	gap junction protein beta 3	gene	DOID:0110559	autosomal dominant nonsyndromic deafness 2B		ISO	RGD:1347813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 2B	PMID:16077902|PMID:21204020|PMID:23638949|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29106878|PMID:31564438|PMID:32645618|PMID:9843210
12115346	GJB3	gap junction protein beta 3	gene	DOID:0111195	erythrokeratodermia variabilis et progressiva 1		ISO	RGD:1347813	D	RGD:7240710	20240529	OMIM			
12115346	GJB3	gap junction protein beta 3	gene	DOID:0111195	erythrokeratodermia variabilis et progressiva 1		ISO	RGD:1347813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 | ClinVar Annotator: match by term: Erythrokeratodermia variabilis et progressiva 1	PMID:12165562|PMID:12648223|PMID:12702148|PMID:19755382|PMID:22617145|PMID:24033266|PMID:24853665|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:35677558|PMID:9843209
12115346	GJB3	gap junction protein beta 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474|PMID:35580552|PMID:36515421
12115346	GJB3	gap junction protein beta 3	gene	DOID:37	skin disease		ISO	RGD:1347813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16372802
12115346	GJB3	gap junction protein beta 3	gene	DOID:3891	placental insufficiency		ISO	RGD:735535	D	RGD:9068941	20200609	RGD			PMID:11237463|REF_RGD_ID:12436730
12115346	GJB3	gap junction protein beta 3	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1347813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16297190
12115346	GJB3	gap junction protein beta 3	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1347813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11309368
12115346	GJB3	gap junction protein beta 3	gene	DOID:630	genetic disease		ISO	RGD:1347813	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:24853665|PMID:25741868|PMID:28492532|PMID:35677558
12115346	GJB3	gap junction protein beta 3	gene	DOID:9002062	Erythrokeratodermia Variabilis, Autosomal Recessive		ISO	RGD:1347813	D	RGD:9068941	20200609	RGD		DNA:missense mutation:CDS:p.L34P (101T>C) (human)	PMID:12019212|REF_RGD_ID:12050155
12115346	GJB3	gap junction protein beta 3	gene	DOID:9002062	Erythrokeratodermia Variabilis, Autosomal Recessive		ISO	RGD:1347813	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.V30I (c.G88A) (human)	PMID:21564177|REF_RGD_ID:12436733
12115346	GJB3	gap junction protein beta 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1347813	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:11309368|PMID:12165562|PMID:15276679|PMID:19050930|PMID:19197336|PMID:19755382|PMID:21204020|PMID:22681493|PMID:24913888|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29044474|PMID:35580552|PMID:36515421
12115346	GJB3	gap junction protein beta 3	gene	DOID:9005662	Keratoderma Palmoplantaris Transgrediens		ISO	RGD:1347813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27068579|PMID:28492532|PMID:35677558
12115346	GJB3	gap junction protein beta 3	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:1347813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to	
12115346	GJB3	gap junction protein beta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115346	GJB3	gap junction protein beta 3	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1347813	D	RGD:9068941	20260604	RGD		DNA:missense mutations:cds:p.N166S, p.A194T (human)	PMID:19050930|REF_RGD_ID:7364900
12115346	GJB3	gap junction protein beta 3	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1347813	D	RGD:9068941	20260604	RGD		DNA:nonsense mutation, missense mutation:cds:p.A180X, p.Q183K (human)	PMID:9843210|REF_RGD_ID:1300214
12115346	GJB3	gap junction protein beta 3	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss	no_association	ISO	RGD:1347813	D	RGD:9068941	20200609	RGD		DNA:missense mutation, SNPs:exon:p.R32W (94C>T), C357C>T, 798C>T (human)	PMID:15276679|REF_RGD_ID:12050154
12115346	GJB3	gap junction protein beta 3	gene	DOID:9008681	Deafness		ISO	RGD:1347813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9843210
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:7240710	20180130	OMIM			
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: ACOX1-related disorder | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy	PMID:11815777|PMID:16199547|PMID:16773508|PMID:17458872|PMID:17576681|PMID:18536048|PMID:20185470|PMID:24033266|PMID:25326637|PMID:25640679|PMID:25741868|PMID:26965209|PMID:28492532|PMID:2894756|PMID:30561787|PMID:31130284|PMID:32169171|PMID:33510602|PMID:8040306|PMID:8279468|PMID:9536098
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0050797	peroxisomal acyl-CoA oxidase deficiency		ISO	RGD:1344840	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACOX1-related condition | ClinVar Annotator: match by term: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY | ClinVar Annotator: match by term: Peroxisomal acyl CoA oxidase deficiency | ClinVar Annotator: match by term: Peroxisomal acyl-CoA oxidase deficiency | ClinVar Annotator: match by term: Pseudoneonatal adrenoleukodystrophy | ClinVar Annotator: match by term: STRAIGHT-CHAIN ACYL-CoA OXIDASE DEFICIENCY | ClinVar Annotator: match by term: peroxisomal acyl-CoA oxidase deficiency	PMID:16199547|PMID:17458872|PMID:24033266|PMID:25326637|PMID:25741868|PMID:28492532|PMID:8040306
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0070234	Loeys-Dietz syndrome 2		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome 2	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0070516	Mitchell syndrome		ISO	RGD:1344840	D	RGD:7240710	20201104	OMIM			
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0070516	Mitchell syndrome		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitchell syndrome	PMID:16199547|PMID:17458872|PMID:25741868|PMID:28492532|PMID:8040306
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0110167	Charcot-Marie-Tooth disease axonal type 2K		ISO	RGD:1344840	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2K	PMID:25326637|PMID:28492532
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:0110201	Charcot-Marie-Tooth disease recessive intermediate A		ISO	RGD:1344840	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate A	PMID:25326637|PMID:28492532
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:10892	hypospadias		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:10907	microcephaly		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344840	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:630	genetic disease		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9000590	Dyspnea		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1344840	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1344840	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:619757	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12115352	ACOX1	acyl-CoA oxidase 1	gene	DOID:9970	obesity	treatment	ISO	RGD:619757	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12115381	CD274	CD274 molecule	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD		mRNA:increased expression:lung	PMID:26378990|REF_RGD_ID:41412180
12115381	CD274	CD274 molecule	gene	DOID:0050523	adult T-cell leukemia/lymphoma	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD			PMID:27418641|REF_RGD_ID:41412177
12115381	CD274	CD274 molecule	gene	DOID:0050784	primary progressive multiple sclerosis	severity	ISO	RGD:1553554	D	RGD:9068941	20200609	RGD			PMID:21494618|REF_RGD_ID:6893669
12115381	CD274	CD274 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
12115381	CD274	CD274 molecule	gene	DOID:0061164	infantile onset multisystem autoimmune disease 5		ISO	RGD:1605684	D	RGD:7240710	20250806	OMIM			
12115381	CD274	CD274 molecule	gene	DOID:0061164	infantile onset multisystem autoimmune disease 5		ISO	RGD:1605684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 5	
12115381	CD274	CD274 molecule	gene	DOID:0080158	herpes simplex virus keratitis		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:16253242|REF_RGD_ID:41410794
12115381	CD274	CD274 molecule	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD			PMID:29058791|REF_RGD_ID:41412178
12115381	CD274	CD274 molecule	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		associated with Epstein-Barr Virus Infections	PMID:27595782|REF_RGD_ID:41412182
12115381	CD274	CD274 molecule	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		protein:increased expression: larynx	PMID:22322668|REF_RGD_ID:40822813
12115381	CD274	CD274 molecule	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD			PMID:32089413|PMID:32380498|REF_RGD_ID:40818238|REF_RGD_ID:41410803
12115381	CD274	CD274 molecule	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:1566211	D	RGD:9068941	20201203	RGD			PMID:27277012|REF_RGD_ID:40886269
12115381	CD274	CD274 molecule	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		associated with cervix uteri carcinoma in situ; protein:increased expression:dendritic cell	PMID:23521696|REF_RGD_ID:40822817
12115381	CD274	CD274 molecule	gene	DOID:11260	rabies		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:18490751|REF_RGD_ID:41410795
12115381	CD274	CD274 molecule	gene	DOID:1205	allergic disease		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20488241|PMID:23624239
12115381	CD274	CD274 molecule	gene	DOID:12148	alveolar echinococcosis	treatment	ISO	RGD:1553554	D	RGD:9068941	20210212	RGD			PMID:30315719|REF_RGD_ID:41410787
12115381	CD274	CD274 molecule	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:23230000|REF_RGD_ID:41410802
12115381	CD274	CD274 molecule	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1553554	D	RGD:9068941	20201112	RGD		protein:increased expression: lung	PMID:25465101|REF_RGD_ID:11056952
12115381	CD274	CD274 molecule	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1553554	D	RGD:9068941	20201112	RGD			PMID:25465101|REF_RGD_ID:11056952
12115381	CD274	CD274 molecule	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		protein:increased expression:serum	PMID:29702526|REF_RGD_ID:40822808
12115381	CD274	CD274 molecule	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1605684	D	RGD:9068941	20210212	RGD		protein:increased expression:lymphocyte, mononcyte	PMID:26063974|REF_RGD_ID:41410786
12115381	CD274	CD274 molecule	gene	DOID:1731	histoplasmosis		ISO	RGD:1553554	D	RGD:9068941	20201203	RGD		protein:increased expression:macrophage, dendritic cell, lymphocyte, splenocytes,	PMID:18268348|REF_RGD_ID:40822806
12115381	CD274	CD274 molecule	gene	DOID:1883	hepatitis C		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		protein:increased expression:dendritic cell	PMID:20513078|REF_RGD_ID:41410799
12115381	CD274	CD274 molecule	gene	DOID:1909	melanoma		ISO	RGD:1605684	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143437
12115381	CD274	CD274 molecule	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:19781375|REF_RGD_ID:41412171
12115381	CD274	CD274 molecule	gene	DOID:219	colon cancer	treatment	ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:28424330|REF_RGD_ID:41410791
12115381	CD274	CD274 molecule	gene	DOID:2394	ovarian cancer		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD		associated with ovarian cancer	PMID:23340297|REF_RGD_ID:41410797
12115381	CD274	CD274 molecule	gene	DOID:2394	ovarian cancer	treatment	ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:28424330|REF_RGD_ID:41410791
12115381	CD274	CD274 molecule	gene	DOID:2841	asthma	treatment	ISO	RGD:1553554	D	RGD:9068941	20210219	RGD		associated with Chlamydia pneumonia	PMID:26378990|REF_RGD_ID:41412180
12115381	CD274	CD274 molecule	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		protein:increased expression:Tcell, B cell, monocyte	PMID:23661793|REF_RGD_ID:40818418
12115381	CD274	CD274 molecule	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1605684	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:16611412
12115381	CD274	CD274 molecule	gene	DOID:303	substance-related disorder		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12115381	CD274	CD274 molecule	gene	DOID:3951	acute myocarditis		ISO	RGD:1553554	D	RGD:9068941	20201203	RGD		associated with Coxsackievirus Infections;protein:increased expression:ventricle:	PMID:17434153|REF_RGD_ID:40822819
12115381	CD274	CD274 molecule	gene	DOID:399	tuberculosis		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		mRNA, protein:increased expression:blood, neutrophil	PMID:21509782|REF_RGD_ID:41412173
12115381	CD274	CD274 molecule	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:1553554	D	RGD:9068941	20200609	RGD			PMID:21965585|REF_RGD_ID:7248671
12115381	CD274	CD274 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD			PMID:30161254|PMID:30236481|REF_RGD_ID:41412179|REF_RGD_ID:41412181
12115381	CD274	CD274 molecule	gene	DOID:646	viral encephalitis		ISO	RGD:1553554	D	RGD:9068941	20201113	RGD			PMID:20876353|PMID:31105690|REF_RGD_ID:40818239|REF_RGD_ID:6893671
12115381	CD274	CD274 molecule	gene	DOID:646	viral encephalitis		ISO	RGD:1553554	D	RGD:9068941	20201113	RGD		protein:increased expression: myeloid cells, microglia, astrocytes	PMID:31105690|REF_RGD_ID:40818239
12115381	CD274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22396772
12115381	CD274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20201113	RGD		associated with  hepatitis B	PMID:30267213|REF_RGD_ID:40818240
12115381	CD274	CD274 molecule	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		associated with hepatitis B	PMID:21912640|REF_RGD_ID:41410800
12115381	CD274	CD274 molecule	gene	DOID:824	periodontitis		ISO	RGD:1566211	D	RGD:9068941	20201203	RGD		protein:increased expression:periodontium	PMID:32346701|REF_RGD_ID:40886271
12115381	CD274	CD274 molecule	gene	DOID:8469	influenza		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD			PMID:24187568|REF_RGD_ID:41410793
12115381	CD274	CD274 molecule	gene	DOID:8566	herpes simplex		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:29669784|REF_RGD_ID:41412169
12115381	CD274	CD274 molecule	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		associated with Papillomavirus Infections; protein:increased expression:dendritic cell	PMID:23521696|REF_RGD_ID:40822817
12115381	CD274	CD274 molecule	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1566211	D	RGD:9068941	20201203	RGD		mRNA:increased expression:microglial cell	PMID:29665726|REF_RGD_ID:40886268
12115381	CD274	CD274 molecule	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605684	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:16530813
12115381	CD274	CD274 molecule	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1605684	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:16530813
12115381	CD274	CD274 molecule	gene	DOID:9000220	Coxsackievirus Infections	treatment	ISO	RGD:1553554	D	RGD:9068941	20201127	RGD			PMID:30904424|REF_RGD_ID:40818421
12115381	CD274	CD274 molecule	gene	DOID:9000277	Radiation-Induced Neoplasms		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
12115381	CD274	CD274 molecule	gene	DOID:9000918	Disease Progression		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27692344
12115381	CD274	CD274 molecule	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		associated with ovarian cancer	PMID:23340297|REF_RGD_ID:41410797
12115381	CD274	CD274 molecule	gene	DOID:9001228	Fungemia	treatment	ISO	RGD:1553554	D	RGD:9068941	20201112	RGD			PMID:23663657|REF_RGD_ID:40818234
12115381	CD274	CD274 molecule	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605684	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:17360651
12115381	CD274	CD274 molecule	gene	DOID:9002801	Recurrence		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22396772
12115381	CD274	CD274 molecule	gene	DOID:9003223	Corneal Graft Rejection	treatment	ISO	RGD:1566211	D	RGD:9068941	20210219	RGD			PMID:22300371|REF_RGD_ID:41412184
12115381	CD274	CD274 molecule	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		protein:increased expression:peripheral blood mononuclear cell	PMID:18086898|REF_RGD_ID:41410796
12115381	CD274	CD274 molecule	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1553554	D	RGD:9068941	20200609	RGD			PMID:14662900|REF_RGD_ID:8657367
12115381	CD274	CD274 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1605684	D	RGD:9068941	20201112	RGD		protein:increased expression:monocyte	PMID:30595665|REF_RGD_ID:40818235
12115381	CD274	CD274 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1605684	D	RGD:9068941	20201203	RGD		protein:increased expression:B cell,CD4T cell	PMID:29661225|REF_RGD_ID:40818424
12115381	CD274	CD274 molecule	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20201203	RGD			PMID:29702526|REF_RGD_ID:40822808
12115381	CD274	CD274 molecule	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		protein:increased expression:monocyte	PMID:27156867|REF_RGD_ID:41412183
12115381	CD274	CD274 molecule	gene	DOID:9005161	Thymus Neoplasms		ISO	RGD:1605684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28736328
12115381	CD274	CD274 molecule	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1605684	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:27692344|PMID:34166680
12115381	CD274	CD274 molecule	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1566211	D	RGD:9068941	20201203	RGD			PMID:29043842|REF_RGD_ID:40886270
12115381	CD274	CD274 molecule	gene	DOID:9006644	Retroviridae Infections	treatment	ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:24187568|REF_RGD_ID:41410793
12115381	CD274	CD274 molecule	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD		mRNA, protein:increased expression:liver	PMID:25907244|REF_RGD_ID:41412175
12115381	CD274	CD274 molecule	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1553554	D	RGD:9068941	20201117	RGD		mRNA:increased expression:lung	PMID:22797302|REF_RGD_ID:40818270
12115381	CD274	CD274 molecule	gene	DOID:9006928	Viral Bronchiolitis	treatment	ISO	RGD:1553554	D	RGD:9068941	20201117	RGD			PMID:22797302|REF_RGD_ID:40818270
12115381	CD274	CD274 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115381	CD274	CD274 molecule	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1605684	D	RGD:9068941	20210219	RGD		protein:increased expression:regulatory T cell	PMID:26266813|REF_RGD_ID:11344683
12115381	CD274	CD274 molecule	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:20460044|REF_RGD_ID:41412166
12115381	CD274	CD274 molecule	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1553554	D	RGD:9068941	20210219	RGD			PMID:16358363|REF_RGD_ID:41410801
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1115	sarcoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1324	lung cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:1909	melanoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:3275	thymoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1351950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:8778	Crohn's disease		ISO	RGD:1351950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn's disease	PMID:25741868
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351950	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115416	PSMD6	proteasome 26S subunit, non-ATPase 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1351950	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22158537
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:24033266|PMID:25741868|PMID:28492532
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISO	RGD:1321513	D	RGD:7240710	20180130	OMIM			
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:0060541	Hermansky-Pudlak syndrome 3		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HPS3-related condition | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 3	PMID:11590544|PMID:16199547|PMID:18414213|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532|PMID:31898847|PMID:32725903
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321513	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1321514	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak Syndrome | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:11590544|PMID:15632015|PMID:17933573|PMID:24033266|PMID:25741868|PMID:25949529|PMID:26575419|PMID:27593200|PMID:28492532|PMID:30387913|PMID:30791930|PMID:31064749|PMID:31141302|PMID:31898847|PMID:32581362|PMID:32725903|PMID:32969595|PMID:33423334|PMID:34303877|PMID:35886065|PMID:36162005
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321513	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1321513	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115432	HPS3	HPS3 biogenesis of lysosomal organelles complex 2 subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050952	spastic ataxia		ISO	RGD:1605663	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:10579	leukodystrophy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:11162	respiratory failure		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:1443	cerebral degeneration		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral degeneration	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:17384640|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:1827	generalized epilepsy		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:2841	asthma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:3405	histiocytosis		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Histiocytosis	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605663	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:23216004|PMID:24566671|PMID:25741868|PMID:26327357|PMID:26620921|PMID:28492532|PMID:30006346|PMID:33977142
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001981	Weight Loss		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002598	Spastic Paraparesis		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraparesis	PMID:25741868
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	PMID:25741868|PMID:33977142
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004866	Ataxia		ISO	RGD:1605663	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:17384640|PMID:19592391|PMID:23065766|PMID:23216004|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:16199547|PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:33977142
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532|PMID:33977142
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		ISO	RGD:1605663	D	RGD:7240710	20180130	OMIM			
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9007747	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		ISO	RGD:1605663	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DARS2-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION | ClinVar Annotator: match by term: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	PMID:16199547|PMID:17384640|PMID:19592391|PMID:21493805|PMID:22843165|PMID:23065766|PMID:23216004|PMID:23652419|PMID:24005482|PMID:24407472|PMID:24566671|PMID:25525159|PMID:25741868|PMID:26620921|PMID:28492532|PMID:30352563|PMID:31589614|PMID:33574740|PMID:33977142|PMID:34055681|PMID:34426522|PMID:34631948|PMID:35379322|PMID:35803560|PMID:35820270|PMID:40814755
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17384640|PMID:24566671|PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9009417	Charcot-Marie-Tooth disease, axonal, type 2LL		ISO	RGD:1605663	D	RGD:7240710	20260204	OMIM			
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9009417	Charcot-Marie-Tooth disease, axonal, type 2LL		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2LL	PMID:28492532|PMID:30373780|PMID:40814755
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115466	DARS2	aspartyl-tRNA synthetase 2, mitochondrial	gene	DOID:936	brain disease		ISO	RGD:1605663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17384640|PMID:23216004|PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23832011|PMID:26457647
12115500	SETBP1	SET binding protein 1	gene	DOID:0050486	exanthem		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	
12115500	SETBP1	SET binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115500	SETBP1	SET binding protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314725	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12115500	SETBP1	SET binding protein 1	gene	DOID:0060597	atypical chronic myeloid leukemia, BCR-ABL1 negative		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222956
12115500	SETBP1	SET binding protein 1	gene	DOID:0070059	autosomal dominant intellectual developmental disorder 29		ISO	RGD:1314725	D	RGD:7240710	20180130	OMIM			
12115500	SETBP1	SET binding protein 1	gene	DOID:0070059	autosomal dominant intellectual developmental disorder 29		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 29 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 29 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 29 | ClinVar Annotator: match by term: SETBP1-related disorder | ClinVar Annotator: match by term: intellectual disability, autosomal dominant 29	PMID:16199547|PMID:20436468|PMID:21037274|PMID:22333924|PMID:23020937|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:29300386|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33867525|PMID:33907317|PMID:35322241|PMID:35982160|PMID:36147799|PMID:38923504|PMID:40144891|PMID:40665309|PMID:41282480
12115500	SETBP1	SET binding protein 1	gene	DOID:0070509	Schinzel-Giedion syndrome		ISO	RGD:1314725	D	RGD:7240710	20180130	OMIM			
12115500	SETBP1	SET binding protein 1	gene	DOID:0070509	Schinzel-Giedion syndrome		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME | ClinVar Annotator: match by term: SETBP1-related condition | ClinVar Annotator: match by term: Schinzel-Giedion midface retraction syndrome | ClinVar Annotator: match by term: Schinzel-Giedion syndrome	PMID:18414213|PMID:20436468|PMID:21037274|PMID:23222956|PMID:23889083|PMID:25082129|PMID:25217958|PMID:25363760|PMID:25533962|PMID:25663181|PMID:25741868|PMID:26467025|PMID:27824329|PMID:28346496|PMID:28492532|PMID:31788832|PMID:32005694|PMID:32460883|PMID:33391157|PMID:36147799
12115500	SETBP1	SET binding protein 1	gene	DOID:0110823	hereditary spastic paraplegia 8		ISO	RGD:1314725	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 8	PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115500	SETBP1	SET binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33907317|PMID:34490615
12115500	SETBP1	SET binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:10604	lactose intolerance		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	
12115500	SETBP1	SET binding protein 1	gene	DOID:10754	otitis media		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:20436468|PMID:21037274|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33907317|PMID:34490615
12115500	SETBP1	SET binding protein 1	gene	DOID:10892	hypospadias		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:11782	astigmatism		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:11836	clubfoot		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115500	SETBP1	SET binding protein 1	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:28492532|PMID:39342494
12115500	SETBP1	SET binding protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1314725	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:2300	spondylolysis		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314725	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12115500	SETBP1	SET binding protein 1	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:3307	teratoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teratoma	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:21037274|PMID:25217958|PMID:28492532|PMID:33867525|PMID:33907317
12115500	SETBP1	SET binding protein 1	gene	DOID:543	dystonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:552	pneumonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:21037274|PMID:25217958|PMID:25741868|PMID:26350204|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115500	SETBP1	SET binding protein 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1314725	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115500	SETBP1	SET binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115500	SETBP1	SET binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157|PMID:33867525|PMID:33907317|PMID:35322241|PMID:40665309|PMID:41282480
12115500	SETBP1	SET binding protein 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23832012
12115500	SETBP1	SET binding protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:21037274|PMID:25217958|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9001581	Constipation		ISO	RGD:1314725	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314725	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:9004657	Weight Gain		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12115500	SETBP1	SET binding protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25217958
12115500	SETBP1	SET binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1314725	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532|PMID:32345733
12115500	SETBP1	SET binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9007152	Talipes		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:9007356	Eczema		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Eczema	
12115500	SETBP1	SET binding protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:20436468|PMID:23222956|PMID:25217958|PMID:25363760|PMID:25663181|PMID:25741868|PMID:27824329|PMID:28346496|PMID:28492532|PMID:32005694|PMID:32460883|PMID:33391157
12115500	SETBP1	SET binding protein 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436468
12115500	SETBP1	SET binding protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12115500	SETBP1	SET binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:21037274|PMID:25217958|PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
12115500	SETBP1	SET binding protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436468
12115500	SETBP1	SET binding protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1314725	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25751625
12115500	SETBP1	SET binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115500	SETBP1	SET binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314725	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:18414213|PMID:21037274|PMID:26467025|PMID:28492532
12115509	PLCD3	phospholipase C delta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:1115	sarcoma		ISO	RGD:1322076	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:1324	lung cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115509	PLCD3	phospholipase C delta 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115530	CCNQ	cyclin Q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115530	CCNQ	cyclin Q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115530	CCNQ	cyclin Q	gene	DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome		ISO	RGD:1604257	D	RGD:7240710	20180130	OMIM			
12115530	CCNQ	cyclin Q	gene	DOID:0111931	syndactyly-telecanthus-anogenital and renal malformations syndrome		ISO	RGD:1604257	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: STAR SYNDROME | ClinVar Annotator: match by term: Syndactyly-telecanthus-anogenital and renal malformations syndrome	PMID:25741868
12115530	CCNQ	cyclin Q	gene	DOID:1909	melanoma		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115530	CCNQ	cyclin Q	gene	DOID:4362	cervical cancer		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115530	CCNQ	cyclin Q	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115530	CCNQ	cyclin Q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:1059	intellectual disability		ISO	RGD:13794394	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:1115	sarcoma		ISO	RGD:734211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:734211	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:734211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115543	FGF11	fibroblast growth factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED	PMID:25741868|PMID:28492532
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10		ISO	RGD:1319660	D	RGD:7240710	20180130	OMIM			
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:0111239	congenital muscular dystrophy-dystroglycanopathy type A10		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 | ClinVar Annotator: match by term: RXYLT1-related condition	PMID:16199547|PMID:17576681|PMID:23217329|PMID:23519211|PMID:24033266|PMID:25640679|PMID:25741868|PMID:27130732|PMID:27733679|PMID:28492532|PMID:30017359|PMID:30609409|PMID:31742715|PMID:34490615|PMID:36344539|PMID:9536098
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115564	RXYLT1	ribitol xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115573	C5H16orf95	chromosome 5 C16orf95 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115573	C5H16orf95	chromosome 5 C16orf95 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115573	C5H16orf95	chromosome 5 C16orf95 homolog	gene	DOID:3275	thymoma		ISO	RGD:5132711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115573	C5H16orf95	chromosome 5 C16orf95 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:5132711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:1731	histoplasmosis		ISO	RGD:1552436	D	RGD:9068941	20201203	RGD		protein:increased expression:macrophage, dendritic cell	PMID:18268348|REF_RGD_ID:40822806
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1552436	D	RGD:9068941	20210219	RGD			PMID:19781375|REF_RGD_ID:41412171
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1314998	D	RGD:9068941	20201203	RGD		protein:increased expression:Tcell, B cell, monocyte	PMID:23661793|REF_RGD_ID:40818418
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1306403	D	RGD:9068941	20201203	RGD		mRNA:increased expression:microglial cell	PMID:29665726|REF_RGD_ID:40886268
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:9000220	Coxsackievirus Infections	treatment	ISO	RGD:1552436	D	RGD:9068941	20201127	RGD			PMID:30904424|REF_RGD_ID:40818421
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:9004484	Sepsis		ISO	RGD:1314998	D	RGD:9068941	20201127	RGD		protein:increased expression:CD27B cell	PMID:29661225|REF_RGD_ID:40818424
12115593	PDCD1LG2	programmed cell death 1 ligand 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:1552436	D	RGD:9068941	20210219	RGD			PMID:16358363|REF_RGD_ID:41410801
12115609	TLCD2	TLC domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115609	TLCD2	TLC domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:1321189	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12115617	KPTN	kaptin, actin binding protein	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1321189	D	RGD:7240710	20180130	OMIM			
12115617	KPTN	kaptin, actin binding protein	gene	DOID:0081206	autosomal recessive intellectual developmental disorder 41		ISO	RGD:1321189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 41 | ClinVar Annotator: match by term: KPTN-related condition | ClinVar Annotator: match by term: Macrocephaly-developmental delay syndrome | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 41	PMID:16199547|PMID:17576681|PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:30008475|PMID:31345272|PMID:32238909|PMID:32358097|PMID:36703628|PMID:9536098
12115617	KPTN	kaptin, actin binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
12115617	KPTN	kaptin, actin binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532
12115617	KPTN	kaptin, actin binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:1826	epilepsy		ISO	RGD:1321189	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
12115617	KPTN	kaptin, actin binding protein	gene	DOID:1909	melanoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:630	genetic disease		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12115617	KPTN	kaptin, actin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115617	KPTN	kaptin, actin binding protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321189	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24239382|PMID:25741868|PMID:25847626|PMID:28492532|PMID:32238909
12115636	RPS27	ribosomal protein S27	gene	DOID:0111880	Diamond-Blackfan anemia 17		ISO	RGD:732460	D	RGD:7240710	20190315	OMIM			
12115636	RPS27	ribosomal protein S27	gene	DOID:0111880	Diamond-Blackfan anemia 17		ISO	RGD:732460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 17 | ClinVar Annotator: match by term: RPS27-related condition	PMID:25741868|PMID:28492532
12115636	RPS27	ribosomal protein S27	gene	DOID:10534	stomach cancer		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115636	RPS27	ribosomal protein S27	gene	DOID:3275	thymoma		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115636	RPS27	ribosomal protein S27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115636	RPS27	ribosomal protein S27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115644	FAM171A2	family with sequence similarity 171 member A2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115644	FAM171A2	family with sequence similarity 171 member A2	gene	DOID:1115	sarcoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115644	FAM171A2	family with sequence similarity 171 member A2	gene	DOID:3275	thymoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115644	FAM171A2	family with sequence similarity 171 member A2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2298821	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5	PMID:38922859
12115644	FAM171A2	family with sequence similarity 171 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115672	LOC100688040	protein PET117 homolog, mitochondrial	gene	DOID:0070504	mitochondrial complex IV deficiency nuclear type 19		ISO	RGD:5688594	D	RGD:7240710	20201111	OMIM			
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1322383	D	RGD:9068941	20210903	RGD			PMID:31918270|REF_RGD_ID:150340710
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322383	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0070042	Coffin-Siris syndrome 1		ISO	RGD:1322383	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome 1	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1322383	D	RGD:7240710	20190315	OMIM			
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0080297	Coffin-Siris syndrome 6		ISO	RGD:1322383	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARID2-related BAFopathy | ClinVar Annotator: match by term: ARID2-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6 | ClinVar Annotator: match by term: Coffin-Siris syndrome 6	PMID:25741868|PMID:26238514|PMID:27993330|PMID:28124119|PMID:28492532|PMID:28726821|PMID:28884947|PMID:30196423|PMID:30838730|PMID:31819232|PMID:33172502|PMID:35489737
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:27993330|PMID:28726821|PMID:31819232|PMID:33172502|PMID:35489737|PMID:38243407
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:27993330|PMID:36713498
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1322383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:10534	stomach cancer	onset	ISO	RGD:1322383	D	RGD:9068941	20210430	RGD		protein:decreased expression:stomach (human)	PMID:26637902|REF_RGD_ID:126848744
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:12642	hiatus hernia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:32071245|PMID:35101336
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:1909	melanoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:1925	Coffin-Siris syndrome		ISO	RGD:1322383	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Coffin-Siris syndrome	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:2841	asthma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:3275	thymoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:3873	desmoplastic/nodular medulloblastoma		ISO	RGD:1322383	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Desmoplastic/nodular medulloblastoma	PMID:26580448
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:540	strabismus		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:630	genetic disease		ISO	RGD:1322383	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27993330|PMID:28726821|PMID:31819232|PMID:33172502|PMID:35489737|PMID:36413997|PMID:38243407
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1322383	D	RGD:9068941	20210910	RGD			PMID:25701229|PMID:32071245|REF_RGD_ID:150340708|REF_RGD_ID:150429631
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322383	D	RGD:9068941	20210903	RGD			PMID:27351279|REF_RGD_ID:150340711
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1322383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9000495	Tremor		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322383	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9004866	Ataxia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1322383	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9009121	lung metastasis	exacerbates	ISO	RGD:1322383	D	RGD:9068941	20210903	RGD		associated with hepatocellular carcinoma,	PMID:32071245|REF_RGD_ID:150340708
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1322383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12115678	ARID2	AT-rich interaction domain 2	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1322383	D	RGD:9068941	20210910	RGD			PMID:33262464|REF_RGD_ID:150429650
12115708	MIR502	microRNA mir-502	gene	DOID:657	adenoma		ISO	RGD:1625973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
12115708	MIR502	microRNA mir-502	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2325495	D	RGD:9068941	20240606	RGD		RNA:decreased expression:dorsal horn of spinal cord	PMID:27277808|REF_RGD_ID:405850240
12115708	MIR502	microRNA mir-502	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1625973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20643829
12115708	MIR502	microRNA mir-502	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1625973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12115725	PNMA8A	PNMA family member 8A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115725	PNMA8A	PNMA family member 8A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115725	PNMA8A	PNMA family member 8A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115725	PNMA8A	PNMA family member 8A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115802	HNRNPA0	heterogeneous nuclear ribonucleoprotein A0	gene	DOID:3717	gastric adenocarcinoma	severity	ISO	RGD:1318867	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:gastric adenocarcinoma (human)	PMID:23007704|REF_RGD_ID:9854641
12115808	EEF1AKMT1	EEF1A lysine methyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12115808	EEF1AKMT1	EEF1A lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12115808	EEF1AKMT1	EEF1A lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606676	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115808	EEF1AKMT1	EEF1A lysine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606676	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12115825	RERG	RAS like estrogen regulated growth inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115825	RERG	RAS like estrogen regulated growth inhibitor	gene	DOID:1612	breast cancer	severity	ISO	RGD:1349252	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:11533059|REF_RGD_ID:1304529
12115825	RERG	RAS like estrogen regulated growth inhibitor	gene	DOID:1909	melanoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115825	RERG	RAS like estrogen regulated growth inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115825	RERG	RAS like estrogen regulated growth inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349252	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:1115	sarcoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314128	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:5408	Paget disease of bone		ISO	RGD:1314128	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115840	RIN3	Ras and Rab interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115864	HELB	DNA helicase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115864	HELB	DNA helicase B	gene	DOID:1115	sarcoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115864	HELB	DNA helicase B	gene	DOID:1324	lung cancer		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115864	HELB	DNA helicase B	gene	DOID:1909	melanoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12115864	HELB	DNA helicase B	gene	DOID:3275	thymoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115864	HELB	DNA helicase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1344471	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115864	HELB	DNA helicase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115864	HELB	DNA helicase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115903	NGF	nerve growth factor	gene	DOID:0050548	hereditary sensory and autonomic neuropathy		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12115903	NGF	nerve growth factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:1352304	D	RGD:9068941	20240203	RGD		protein:increased expression:serum	PMID:17434673|REF_RGD_ID:401965399
12115903	NGF	nerve growth factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:1352304	D	RGD:9068941	20240208	RGD		protein:decreased expression:plasma	PMID:16737466|REF_RGD_ID:401965409
12115903	NGF	nerve growth factor	gene	DOID:0050741	alcohol dependence		ISO	RGD:1598328	D	RGD:9068941	20240229	RGD		protein:decreased expression:sciatic nerve	PMID:8733743|REF_RGD_ID:401976493
12115903	NGF	nerve growth factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:10978	D	RGD:9068941	20240606	RGD		protein:increased expression:hippocampus	PMID:34508846|REF_RGD_ID:405850211
12115903	NGF	nerve growth factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:17667845|REF_RGD_ID:5144120
12115903	NGF	nerve growth factor	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:10978	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23528019|REF_RGD_ID:7242845
12115903	NGF	nerve growth factor	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:10978	D	RGD:9068941	20240309	RGD		associated with Experimental Diabetes Mellitus	PMID:32681844|REF_RGD_ID:402463968
12115903	NGF	nerve growth factor	gene	DOID:0051061	stroke		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:19061539|REF_RGD_ID:2303801
12115903	NGF	nerve growth factor	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:16098667|REF_RGD_ID:5144071
12115903	NGF	nerve growth factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1352304	D	RGD:9068941	20240208	RGD		associated with alcohol dependence;DNA,protein:hypermethylation,decreased expression:promoter,serum	PMID:21392176|REF_RGD_ID:401965410
12115903	NGF	nerve growth factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1352304	D	RGD:9068941	20240208	RGD		associated with alcohol dependence;protein:decreased expression:plasma	PMID:18639986|REF_RGD_ID:401965411
12115903	NGF	nerve growth factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1598328	D	RGD:9068941	20240222	RGD		associated with alcohol dependence;protein:altered expression:brain	PMID:16252071|REF_RGD_ID:401976435
12115903	NGF	nerve growth factor	gene	DOID:0070145	hereditary sensory and autonomic neuropathy type 5		ISO	RGD:1352304	D	RGD:7240710	20180130	OMIM			
12115903	NGF	nerve growth factor	gene	DOID:0070145	hereditary sensory and autonomic neuropathy type 5		ISO	RGD:1352304	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Congenital sensory neuropathy with selective loss of small myelinated fibers	PMID:28492532
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:10978	D	RGD:9068941	20200609	RGD		associated with Cystitis;protein:increased expression:urine	PMID:21717507|REF_RGD_ID:7242779
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16600756
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:17050722|REF_RGD_ID:7242798
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21826717|REF_RGD_ID:7242778
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome	treatment	ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		associated with Cystitis	PMID:21605172|REF_RGD_ID:7242780
12115903	NGF	nerve growth factor	gene	DOID:0070355	overactive bladder syndrome	treatment	ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:22473863|REF_RGD_ID:7242775
12115903	NGF	nerve growth factor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1352304	D	RGD:9068941	20240229	RGD		protein:increased expression:plasma	PMID:22434756|REF_RGD_ID:401976546
12115903	NGF	nerve growth factor	gene	DOID:0080809	chronic asthma	treatment	ISO	RGD:1598328	D	RGD:9068941	20240328	RGD			PMID:30681402|REF_RGD_ID:405100716
12115903	NGF	nerve growth factor	gene	DOID:0080819	environmentally induced asthma		ISO	RGD:10978	D	RGD:9068941	20260507	RGD		associated with Experimental Allergic Asthma;protein:increased expression:respiratory system fluid/secretion	PMID:28102732|REF_RGD_ID:645233558
12115903	NGF	nerve growth factor	gene	DOID:0080855	Parkinsonism		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19694610
12115903	NGF	nerve growth factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:1598328	D	RGD:9068941	20240203	RGD			PMID:20581854|REF_RGD_ID:401965387
12115903	NGF	nerve growth factor	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:1598328	D	RGD:9068941	20240323	RGD			PMID:26285082|REF_RGD_ID:402463964
12115903	NGF	nerve growth factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:14587217|REF_RGD_ID:8655553
12115903	NGF	nerve growth factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		protein:decreased expression:lacrimal gland	PMID:20595895|REF_RGD_ID:4891133
12115903	NGF	nerve growth factor	gene	DOID:1063	interstitial nephritis		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16889433
12115903	NGF	nerve growth factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:21368378|REF_RGD_ID:5144128
12115903	NGF	nerve growth factor	gene	DOID:10685	separation anxiety disorder		ISO	RGD:1598328	D	RGD:9068941	20240222	RGD		protein:decreased expression:hippocampus	PMID:24407463|REF_RGD_ID:401976437
12115903	NGF	nerve growth factor	gene	DOID:10763	hypertension		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:10797303|REF_RGD_ID:5144109
12115903	NGF	nerve growth factor	gene	DOID:10914	amnestic disorder		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16405025|PMID:19694610
12115903	NGF	nerve growth factor	gene	DOID:11383	cryptorchidism		ISO	RGD:1598328	D	RGD:9068941	20240307	RGD		mRNA,protein:decreased expression:testis	PMID:22490502|REF_RGD_ID:402463952
12115903	NGF	nerve growth factor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:10978	D	RGD:9068941	20240229	RGD		protein:increased expression:sciatic nerve	PMID:32652504|REF_RGD_ID:401976543
12115903	NGF	nerve growth factor	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:10978	D	RGD:9068941	20200609	RGD			PMID:22776032|REF_RGD_ID:7242913
12115903	NGF	nerve growth factor	gene	DOID:11832	visual epilepsy		ISO	RGD:1352304	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815271
12115903	NGF	nerve growth factor	gene	DOID:12143	neurogenic bladder		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		associated with Meningomyelocele;protein:increased expression:urine	PMID:23301927|REF_RGD_ID:7242771
12115903	NGF	nerve growth factor	gene	DOID:12143	neurogenic bladder	treatment	ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		associated with Spinal Cord Injuries	PMID:22220508|REF_RGD_ID:7242776
12115903	NGF	nerve growth factor	gene	DOID:12217	Lewy body dementia		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12115903	NGF	nerve growth factor	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:19824047|REF_RGD_ID:4891065
12115903	NGF	nerve growth factor	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:16315781|REF_RGD_ID:4891110
12115903	NGF	nerve growth factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21059230|REF_RGD_ID:5144061
12115903	NGF	nerve growth factor	gene	DOID:13948	bladder neck obstruction	treatment	ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:22795377|REF_RGD_ID:7242774
12115903	NGF	nerve growth factor	gene	DOID:13949	interstitial cystitis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, urine	PMID:23028581|REF_RGD_ID:7242773
12115903	NGF	nerve growth factor	gene	DOID:13949	interstitial cystitis		ISO	RGD:1598328	D	RGD:9068941	20240829	RGD		mRNA:increased expression:urinary bladder	PMID:38842512|REF_RGD_ID:407445927
12115903	NGF	nerve growth factor	gene	DOID:13949	interstitial cystitis	treatment	ISO	RGD:10978	D	RGD:9068941	20200609	RGD			PMID:18162370|REF_RGD_ID:7242805
12115903	NGF	nerve growth factor	gene	DOID:13949	interstitial cystitis	treatment	ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:20227820|REF_RGD_ID:7242781
12115903	NGF	nerve growth factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12115903	NGF	nerve growth factor	gene	DOID:1459	hypothyroidism		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hypothalamus	PMID:19233274|REF_RGD_ID:2303791
12115903	NGF	nerve growth factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:10978	D	RGD:9068941	20240229	RGD		protein:decreased expression:cerebral cortex, hippocampus	PMID:19100286|REF_RGD_ID:401976492
12115903	NGF	nerve growth factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:1352304	D	RGD:9068941	20240210	RGD		protein:increased expression:serum	PMID:25623403|REF_RGD_ID:401965480
12115903	NGF	nerve growth factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:1598328	D	RGD:9068941	20240215	RGD		protein:decreased expression:brain	PMID:15307153|REF_RGD_ID:401965482
12115903	NGF	nerve growth factor	gene	DOID:1596	depressive disorder		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus	PMID:19129380|REF_RGD_ID:2303796
12115903	NGF	nerve growth factor	gene	DOID:1679	cystitis		ISO	RGD:10978	D	RGD:9068941	20200609	RGD			PMID:11350415|REF_RGD_ID:7242808
12115903	NGF	nerve growth factor	gene	DOID:1679	cystitis		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16889433
12115903	NGF	nerve growth factor	gene	DOID:1679	cystitis		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:19996110|REF_RGD_ID:7242802
12115903	NGF	nerve growth factor	gene	DOID:1679	cystitis	treatment	ISO	RGD:10978	D	RGD:9068941	20200609	RGD			PMID:20127836|REF_RGD_ID:7242782
12115903	NGF	nerve growth factor	gene	DOID:1686	glaucoma		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:18938194|REF_RGD_ID:2303806
12115903	NGF	nerve growth factor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1352304	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12115903	NGF	nerve growth factor	gene	DOID:1824	status epilepticus		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8635431|PMID:8821376
12115903	NGF	nerve growth factor	gene	DOID:1936	atherosclerosis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:decreased expression:coronary artery	PMID:11689207|REF_RGD_ID:5508382
12115903	NGF	nerve growth factor	gene	DOID:2462	retinal vascular disease		ISO	RGD:10978	D	RGD:9068941	20240307	RGD			PMID:23288991|REF_RGD_ID:402463956
12115903	NGF	nerve growth factor	gene	DOID:2559	opiate dependence		ISO	RGD:10978	D	RGD:9068941	20240229	RGD		protein:decreased expression:brain	PMID:26440527|REF_RGD_ID:401976545
12115903	NGF	nerve growth factor	gene	DOID:2559	opiate dependence		ISO	RGD:1352304	D	RGD:9068941	20240217	RGD		DNA:hypermethylation:promoter,exon:blood	PMID:29224006|REF_RGD_ID:401976280
12115903	NGF	nerve growth factor	gene	DOID:2560	morphine dependence		ISO	RGD:1598328	D	RGD:9068941	20240208	RGD		mRNA,protein:increased expression:central amygdaloid nucleus	PMID:22871918|REF_RGD_ID:401965392
12115903	NGF	nerve growth factor	gene	DOID:2841	asthma		ISO	RGD:10978	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, serum	PMID:17497413|REF_RGD_ID:4891068
12115903	NGF	nerve growth factor	gene	DOID:2841	asthma		ISO	RGD:10978	D	RGD:9068941	20260328	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:32570040|REF_RGD_ID:640480060
12115903	NGF	nerve growth factor	gene	DOID:2841	asthma		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:11737043|REF_RGD_ID:4891123
12115903	NGF	nerve growth factor	gene	DOID:2841	asthma		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, eosinophil	PMID:12752594|REF_RGD_ID:4891122
12115903	NGF	nerve growth factor	gene	DOID:2841	asthma	severity	ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:17164945|REF_RGD_ID:4891108
12115903	NGF	nerve growth factor	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19169037|REF_RGD_ID:7242783
12115903	NGF	nerve growth factor	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11102930 (human)	PMID:21178826|REF_RGD_ID:7242801
12115903	NGF	nerve growth factor	gene	DOID:3082	interstitial lung disease		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;protein:increased expression:serum:	PMID:24691584|REF_RGD_ID:8657022
12115903	NGF	nerve growth factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17073871|REF_RGD_ID:8657069
12115903	NGF	nerve growth factor	gene	DOID:3312	bipolar disorder	sexual_dimorphism	ISO	RGD:1352304	D	RGD:9068941	20240203	RGD		DNA:SNPs,haplotypes: :multiple	PMID:21294249|REF_RGD_ID:401965386
12115903	NGF	nerve growth factor	gene	DOID:3393	coronary artery disease		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
12115903	NGF	nerve growth factor	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10408807
12115903	NGF	nerve growth factor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:1598328	D	RGD:9068941	20240309	RGD			PMID:29409115|REF_RGD_ID:402463967
12115903	NGF	nerve growth factor	gene	DOID:365	bladder disease		ISO	RGD:10978	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:15448108|REF_RGD_ID:7242800
12115903	NGF	nerve growth factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:12917229|REF_RGD_ID:4891121
12115903	NGF	nerve growth factor	gene	DOID:418	systemic scleroderma		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21085492|REF_RGD_ID:5144060
12115903	NGF	nerve growth factor	gene	DOID:431	myofascial pain syndrome		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:17667845|REF_RGD_ID:5144120
12115903	NGF	nerve growth factor	gene	DOID:4483	rhinitis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		associated with Sinusitis;protein:increased expression:respiratory system mucosa	PMID:19958603|REF_RGD_ID:4891064
12115903	NGF	nerve growth factor	gene	DOID:4483	rhinitis		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:10224365|REF_RGD_ID:4891115
12115903	NGF	nerve growth factor	gene	DOID:5154	borna disease		ISO	RGD:1598328	D	RGD:9068941	20240222	RGD		mRNA:decreased expression:hippocampus	PMID:11175319|REF_RGD_ID:2325644
12115903	NGF	nerve growth factor	gene	DOID:5419	schizophrenia		ISO	RGD:1352304	D	RGD:9068941	20240224	RGD		associated with cannabis abuse;protein:increased expression:serum	PMID:14870957|REF_RGD_ID:401976441
12115903	NGF	nerve growth factor	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15319252
12115903	NGF	nerve growth factor	gene	DOID:5844	myocardial infarction		ISO	RGD:1352304	D	RGD:9068941	20240323	RGD		protein:increased expression:myocardium	PMID:20360245|REF_RGD_ID:405100231
12115903	NGF	nerve growth factor	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:1352304	D	RGD:9068941	20240323	RGD			PMID:20360245|REF_RGD_ID:405100231
12115903	NGF	nerve growth factor	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023256
12115903	NGF	nerve growth factor	gene	DOID:783	end stage renal disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:19169037|REF_RGD_ID:7242783
12115903	NGF	nerve growth factor	gene	DOID:784	chronic kidney disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1598328	D	RGD:9068941	20240309	RGD			PMID:25677108|PMID:33806315|REF_RGD_ID:402463969|REF_RGD_ID:402463970
12115903	NGF	nerve growth factor	gene	DOID:8463	corneal ulcer		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24244623
12115903	NGF	nerve growth factor	gene	DOID:863	nervous system disease		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15093677
12115903	NGF	nerve growth factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18282491|REF_RGD_ID:7242804
12115903	NGF	nerve growth factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1598328	D	RGD:9068941	20240328	RGD		associated with Experimental Diabetes Mellitus	PMID:24030532|REF_RGD_ID:405100241
12115903	NGF	nerve growth factor	gene	DOID:90	degenerative disc disease		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:20973063|REF_RGD_ID:5144150
12115903	NGF	nerve growth factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:12499054|PMID:16915089|REF_RGD_ID:5144069|REF_RGD_ID:5144073
12115903	NGF	nerve growth factor	gene	DOID:9000310	Lung Injury		ISO	RGD:10978	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:20075049|REF_RGD_ID:5144062
12115903	NGF	nerve growth factor	gene	DOID:9000310	Lung Injury		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20075049
12115903	NGF	nerve growth factor	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:10978	D	RGD:9068941	20240203	RGD		mRNA,protein:increased expression:cerebellum	PMID:19861148|REF_RGD_ID:401965398
12115903	NGF	nerve growth factor	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:1352304	D	RGD:9068941	20240208	RGD		protein:increased expression:plasma	PMID:18639986|REF_RGD_ID:401965411
12115903	NGF	nerve growth factor	gene	DOID:9000641	Pain		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:19103210|REF_RGD_ID:2303798
12115903	NGF	nerve growth factor	gene	DOID:9000641	Pain	treatment	ISO	RGD:1352304	D	RGD:9068941	20200609	RGD		associated with Cystitis, Interstitial	PMID:17905097|REF_RGD_ID:7242806
12115903	NGF	nerve growth factor	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22871964
12115903	NGF	nerve growth factor	gene	DOID:9001129	Alcohol Withdrawal Delirium		ISO	RGD:1352304	D	RGD:9068941	20240203	RGD		protein:increased expression:serum	PMID:17434673|REF_RGD_ID:401965399
12115903	NGF	nerve growth factor	gene	DOID:9001131	stress-related disorder		ISO	RGD:1598328	D	RGD:9068941	20240307	RGD		mRNA,protein:altered expression:hypothalamus	PMID:26771945|REF_RGD_ID:402463957
12115903	NGF	nerve growth factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:1598328	D	RGD:9068941	20250102	RGD		associated with alcohol use disorder;protein:increased expression:adrenal gland, testis, thyroid gland	PMID:24334784|REF_RGD_ID:401976286
12115903	NGF	nerve growth factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:sciatic nerve:	PMID:11425916|REF_RGD_ID:8657088
12115903	NGF	nerve growth factor	gene	DOID:9001240	Peripheral Nerve Injuries	treatment	ISO	RGD:1352304	D	RGD:9068941	20240307	RGD			PMID:22669154|REF_RGD_ID:10413899
12115903	NGF	nerve growth factor	gene	DOID:9001240	Peripheral Nerve Injuries	treatment	ISO	RGD:1598328	D	RGD:9068941	20240323	RGD			PMID:27392124|REF_RGD_ID:405100230
12115903	NGF	nerve growth factor	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570423
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10978	D	RGD:9068941	20200609	RGD		associated with Cystitis	PMID:16203088|REF_RGD_ID:7242799
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20457222
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		associated with Cystitis	PMID:18448607|REF_RGD_ID:7242803
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries;	PMID:11425916|REF_RGD_ID:8657088
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1598328	D	RGD:9068941	20240307	RGD			PMID:24095693|REF_RGD_ID:402463955
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:22839415|REF_RGD_ID:7242849
12115903	NGF	nerve growth factor	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:1598328	D	RGD:9068941	20240328	RGD		associated with Osteoarthritis, Experimental	PMID:27208420|REF_RGD_ID:405100717
12115903	NGF	nerve growth factor	gene	DOID:9002224	Rotator Cuff Injuries		ISO	RGD:1598328	D	RGD:9068941	20240307	RGD		mRNA,protein:increased expression:rotator cuff	PMID:30146165|REF_RGD_ID:402463951
12115903	NGF	nerve growth factor	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:10978	D	RGD:9068941	20260430	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:28102732|REF_RGD_ID:645233558
12115903	NGF	nerve growth factor	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22666365
12115903	NGF	nerve growth factor	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1661212
12115903	NGF	nerve growth factor	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:1352304	D	RGD:9068941	20240229	RGD		protein:increased expression:plasma	PMID:8727238|REF_RGD_ID:401976550
12115903	NGF	nerve growth factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:thalamus and cortex, CNS	PMID:8866783|REF_RGD_ID:5508386
12115903	NGF	nerve growth factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22666365
12115903	NGF	nerve growth factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:10978	D	RGD:9068941	20240229	RGD		protein:decreased expression:entorhinal cortex	PMID:10440485|REF_RGD_ID:401976542
12115903	NGF	nerve growth factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:1598328	D	RGD:9068941	20240208	RGD		protein:altered expression:brain	PMID:10837897|REF_RGD_ID:401965408
12115903	NGF	nerve growth factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:1598328	D	RGD:9068941	20240229	RGD		protein:increased expression:cerebral cortex	PMID:14604765|REF_RGD_ID:401976539
12115903	NGF	nerve growth factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:1598328	D	RGD:9068941	20240229	RGD		protein:increased expression:frontal cortex,cerebellar vermis	PMID:18652597|REF_RGD_ID:401976540
12115903	NGF	nerve growth factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:1598328	D	RGD:9068941	20240229	RGD		protein:increased expression:thalamus	PMID:21277941|REF_RGD_ID:401976494
12115903	NGF	nerve growth factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10978	D	RGD:9068941	20200609	RGD			PMID:17673270|REF_RGD_ID:5144065
12115903	NGF	nerve growth factor	gene	DOID:9004965	opiate withdrawal syndrome		ISO	RGD:1352304	D	RGD:9068941	20240229	RGD		protein:increased expression:plasma	PMID:8727238|REF_RGD_ID:401976550
12115903	NGF	nerve growth factor	gene	DOID:9005372	Inflammation		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10653021
12115903	NGF	nerve growth factor	gene	DOID:9005372	Inflammation		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:19200610|REF_RGD_ID:2303794
12115903	NGF	nerve growth factor	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17715210
12115903	NGF	nerve growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:sciatic nerve	PMID:19149268|REF_RGD_ID:2303795
12115903	NGF	nerve growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21136036|REF_RGD_ID:5144144
12115903	NGF	nerve growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1598328	D	RGD:9068941	20240309	RGD		protein:decreased processing:hippocampus	PMID:26282349|REF_RGD_ID:402463971
12115903	NGF	nerve growth factor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:10978	D	RGD:9068941	20240309	RGD			PMID:25728260|REF_RGD_ID:402463972
12115903	NGF	nerve growth factor	gene	DOID:9005908	Retrograde Degeneration		ISO	RGD:1598328	D	RGD:9068941	20240309	RGD			PMID:29609077|REF_RGD_ID:402463965
12115903	NGF	nerve growth factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:10978	D	RGD:9068941	20240203	RGD			PMID:30481505|REF_RGD_ID:401965395
12115903	NGF	nerve growth factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:1352304	D	RGD:9068941	20240203	RGD			PMID:30481505|REF_RGD_ID:401965395
12115903	NGF	nerve growth factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:1352304	D	RGD:9068941	20240229	RGD		associated with brain ischemia	PMID:29599834|REF_RGD_ID:401976548
12115903	NGF	nerve growth factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:1598328	D	RGD:9068941	20240203	RGD			PMID:34964700|REF_RGD_ID:401965400
12115903	NGF	nerve growth factor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1352304	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
12115903	NGF	nerve growth factor	gene	DOID:9007073	Cough	treatment	ISO	RGD:10978	D	RGD:9068941	20260507	RGD			PMID:38224794|REF_RGD_ID:645233561
12115903	NGF	nerve growth factor	gene	DOID:9007730	Burns		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:12133564|REF_RGD_ID:5144074
12115903	NGF	nerve growth factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:1598328	D	RGD:9068941	20240307	RGD		protein:increased expression:retina	PMID:28067793|REF_RGD_ID:402463954
12115903	NGF	nerve growth factor	gene	DOID:9008444	Skeletal Muscle Injuries	treatment	ISO	RGD:1598328	D	RGD:9068941	20240323	RGD			PMID:26653267|REF_RGD_ID:405100233
12115903	NGF	nerve growth factor	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1352304	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INSENSITIVITY TO PAIN, CONGENITAL | ClinVar Annotator: match by term: Insensitivity to pain, channelopathy-associated	PMID:21358750|PMID:22330829|PMID:25741868|PMID:26215504|PMID:28492532
12115903	NGF	nerve growth factor	gene	DOID:9008717	Rib Fractures		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:9798454|REF_RGD_ID:5144111
12115903	NGF	nerve growth factor	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD			PMID:21044172|REF_RGD_ID:5144149
12115903	NGF	nerve growth factor	gene	DOID:9470	bacterial meningitis		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus:	PMID:22683802|REF_RGD_ID:8655554
12115903	NGF	nerve growth factor	gene	DOID:9505	cannabis abuse		ISO	RGD:1352304	D	RGD:9068941	20240203	RGD		protein:decreased expression:serum	PMID:18774699|REF_RGD_ID:401965396
12115903	NGF	nerve growth factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1598328	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:sciatic nerve	PMID:12469361|REF_RGD_ID:5508379
12115903	NGF	nerve growth factor	gene	DOID:9975	cocaine dependence		ISO	RGD:1352304	D	RGD:9068941	20240222	RGD		protein:decreased expression:serum	PMID:17715210|REF_RGD_ID:401976440
12115903	NGF	nerve growth factor	gene	DOID:9976	heroin dependence		ISO	RGD:1352304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17715210
12115903	NGF	nerve growth factor	gene	DOID:9976	heroin dependence		ISO	RGD:1352304	D	RGD:9068941	20240222	RGD		protein:decreased expression:serum	PMID:17715210|REF_RGD_ID:401976440
12115903	NGF	nerve growth factor	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:1352304	D	RGD:9068941	20240203	RGD		DNA:SNP:intron:rs2239622	PMID:21358750|REF_RGD_ID:401965390
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1347782	D	RGD:9068941	20250710	RGD		mRNA:increased expression:heart left ventricle	PMID:27936202|REF_RGD_ID:617154591
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:2468	psychotic disorder		ISO	RGD:1347782	D	RGD:9068941	20250710	RGD		DNA:SNP: :rs12196860	PMID:24132900|REF_RGD_ID:617154585
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1347782	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:9003854	Cleft Lip with or without Cleft Palate, Nonsyndromic, 7		ISO	RGD:1347782	D	RGD:9068941	20250710	RGD		DNA:CNV:Chr.6:56247500, 6p12.1, Hs00783345_cn	PMID:30924295|REF_RGD_ID:617154584
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1347782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438686
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115908	COL21A1	collagen type XXI alpha 1 chain	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1347782	D	RGD:9068941	20231102	RGD		DNA:SNP:: (rs1925156) (human)	PMID:18438686|REF_RGD_ID:401851917
12115967	PDCD2	programmed cell death 2	gene	DOID:4362	cervical cancer		ISO	RGD:733734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12115967	PDCD2	programmed cell death 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733734	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12115967	PDCD2	programmed cell death 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12115967	PDCD2	programmed cell death 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12115967	PDCD2	programmed cell death 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12115977	AFM	afamin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12115977	AFM	afamin	gene	DOID:3021	acute kidney failure		ISO	RGD:1352528	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
12115977	AFM	afamin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12115977	AFM	afamin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352528	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12115977	AFM	afamin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352528	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:1909	melanoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:4362	cervical cancer		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:9002239	Estrogen Resistance		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Estrogen resistance | ClinVar Annotator: match by term: Estrogen resistance syndrome	PMID:33116287
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116012	CCDC170	coiled-coil domain containing 170	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1603685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:1115	sarcoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:1324	lung cancer		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116036	RRP8	ribosomal RNA processing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116047	NCOA5	nuclear receptor coactivator 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116047	NCOA5	nuclear receptor coactivator 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116047	NCOA5	nuclear receptor coactivator 5	gene	DOID:4362	cervical cancer		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116047	NCOA5	nuclear receptor coactivator 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12116047	NCOA5	nuclear receptor coactivator 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734|PMID:24413737
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		protein:decreased expression:oral epithelium (human)	PMID:24122999|REF_RGD_ID:150429611
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1606790	D	RGD:7240710	20180130	OMIM			
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:23099237|REF_RGD_ID:10450876
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0050912	colon adenoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:colon (human)	PMID:29875879|REF_RGD_ID:150429665
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutations, splice-site mutations:multiple	PMID:20693430|REF_RGD_ID:11038679
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		mRNA, protein:decreased expression:stomach (human)	PMID:27027260|REF_RGD_ID:150429612
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		associated with Neoplasm Metastasis; human cells in mouse model	PMID:31242038|REF_RGD_ID:150429653
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:stomach (human)	PMID:31242038|REF_RGD_ID:150429653
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		human cells in mouse model	PMID:33058920|REF_RGD_ID:150429654
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:1115	sarcoma		ISO	RGD:1606790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:1612	breast cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	PMID:30713804|REF_RGD_ID:150429690
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.R686S (c.2058A>T), p.L1340P (c.4019T>C), p.H1868R (c.5603A>G) (human)	PMID:19564637|REF_RGD_ID:11038680
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression:colorectum, Cancer Stem-like Cells (human)	PMID:31057717|REF_RGD_ID:150429686
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		associated with Lymphatic Metastasis;mRNA:decreased expression:esophagus squamous epithelium (human)	PMID:27050164|REF_RGD_ID:150429668
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:esophagus squamous epithelium (human)	PMID:26093090|REF_RGD_ID:11528815
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		DNA:mutations	PMID:26873401|REF_RGD_ID:150429656
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		DNA:mutations:multiple	PMID:32554069|REF_RGD_ID:150429694
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23797736
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:liver (human)	PMID:26366235|REF_RGD_ID:150429684
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:29331390|PMID:33097695|REF_RGD_ID:150429595|REF_RGD_ID:150429597
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:liver (human)	PMID:30070373|REF_RGD_ID:150429689
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:decreased expression:liver (human)	PMID:33097695|REF_RGD_ID:150429597
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:increased expression:liver (human)	PMID:29331390|REF_RGD_ID:150429595
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:8541	Sezary's disease		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		associated with colorectal cancer; protein:decreased expression:colorectum (human)	PMID:33552282|REF_RGD_ID:150429609
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23593118
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9004253	Immunoblastic Lymphadenopathy		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413737
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9004473	Monocytosis		ISO	RGD:1323180	D	RGD:9068941	20200609	RGD			PMID:24218139|REF_RGD_ID:11038772
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9004835	Immunodeficiency 75		ISO	RGD:1606790	D	RGD:7240710	20210113	OMIM			
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26285909
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9005969	Refractory Anemia with Excess of Blasts	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD			PMID:25200248|REF_RGD_ID:11038682
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606790	D	RGD:9068941	20200609	RGD		DNA:deletions	PMID:23389918|REF_RGD_ID:11038681
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1606790	D	RGD:9068941	20200609	RGD			PMID:25200248|REF_RGD_ID:11038682
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		associated with Neoplasm Metastasis; mRNA:decreased expression:colorectum (human)	PMID:26816554|REF_RGD_ID:150429613
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA, protein:increased expression:colorectum, CD4 positive T cells (human)	PMID:30013992|REF_RGD_ID:150429655
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:decreased expression:colon (human)	PMID:29875879|REF_RGD_ID:150429665
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1606790	D	RGD:9068941	20210917	RGD		mRNA:increased expression: Blood, peripheral blood mononuclear cells (human)	PMID:30713804|REF_RGD_ID:150429690
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:1606790	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:32774157|REF_RGD_ID:150429610
12116061	TET2	tet methylcytosine dioxygenase 2	gene	DOID:9538	multiple myeloma		ISO	RGD:1606790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12116079	AP3S2	adaptor related protein complex 3 subunit sigma 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350010	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21874001
12116094	EGR2	early growth response 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116094	EGR2	early growth response 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:1352442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	PMID:10371530|PMID:10502832|PMID:10762521|PMID:11239949|PMID:11523566|PMID:12471219|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20513111|PMID:22546699|PMID:22765307|PMID:25720245|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:27164712|PMID:27549087|PMID:28492532|PMID:30481651|PMID:30843326|PMID:30889162|PMID:31211173|PMID:31852952|PMID:32376792|PMID:32528171|PMID:32896048|PMID:34169998|PMID:34255403|PMID:35101336|PMID:37306961|PMID:9537424
12116094	EGR2	early growth response 2	gene	DOID:0050540	Charcot-Marie-Tooth disease type 3		ISO	RGD:1352442	D	RGD:7240710	20180425	OMIM			
12116094	EGR2	early growth response 2	gene	DOID:0050540	Charcot-Marie-Tooth disease type 3		ISO	RGD:1352442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEJERINE-SOTTAS NEUROPATHY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dejerine-Sottas disease	PMID:17717711|PMID:22546699|PMID:25741868|PMID:27013732|PMID:28492532|PMID:30843326
12116094	EGR2	early growth response 2	gene	DOID:0110150	Charcot-Marie-Tooth disease type 1D		ISO	RGD:1352442	D	RGD:7240710	20180130	OMIM			
12116094	EGR2	early growth response 2	gene	DOID:0110150	Charcot-Marie-Tooth disease type 1D		ISO	RGD:1352442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1D | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, type 1d	PMID:10369870|PMID:10371530|PMID:11523566|PMID:11545686|PMID:15241803|PMID:15947997|PMID:16198564|PMID:17717711|PMID:20301384|PMID:20301641|PMID:22734907|PMID:25741868|PMID:26204789|PMID:26467025|PMID:27013732|PMID:27159987|PMID:28492532|PMID:30481651|PMID:32337334|PMID:32376792|PMID:37306961|PMID:9537424
12116094	EGR2	early growth response 2	gene	DOID:0110195	congenital hypomyelinating neuropathy 1		ISO	RGD:1352442	D	RGD:7240710	20180130	OMIM			
12116094	EGR2	early growth response 2	gene	DOID:0110195	congenital hypomyelinating neuropathy 1		ISO	RGD:1352442	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4E	PMID:12736090|PMID:20301384|PMID:20301641|PMID:25741868|PMID:9537424
12116094	EGR2	early growth response 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1352442	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10371530|PMID:10502832|PMID:15241803|PMID:21149811|PMID:22271166|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34169998
12116094	EGR2	early growth response 2	gene	DOID:1206	Rett syndrome		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19000991
12116094	EGR2	early growth response 2	gene	DOID:12849	autistic disorder		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19000991
12116094	EGR2	early growth response 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:28492532|PMID:31211173|PMID:34255403|PMID:35101336
12116094	EGR2	early growth response 2	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12116094	EGR2	early growth response 2	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1352442	D	RGD:9068941	20200609	RGD		Dejerine-Sottas neuropathy, OMIM:145900;DNA:point mutation:exon:R359W	PMID:12970165|REF_RGD_ID:1601014
12116094	EGR2	early growth response 2	gene	DOID:2477	motor peripheral neuropathy		ISO	RGD:1352442	D	RGD:9068941	20200609	RGD		congenital hypomyelinating neuropathy, OMIM:605253;DNA:point mutation:exon:I268N	PMID:10369870|REF_RGD_ID:1601012
12116094	EGR2	early growth response 2	gene	DOID:3369	Ewing sarcoma		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214589
12116094	EGR2	early growth response 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:621608	D	RGD:9068941	20200609	RGD			PMID:22645329|REF_RGD_ID:10395314
12116094	EGR2	early growth response 2	gene	DOID:607	paraplegia		ISO	RGD:1352442	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	
12116094	EGR2	early growth response 2	gene	DOID:630	genetic disease		ISO	RGD:1352442	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10762521|PMID:12471219|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32376792|PMID:34323022
12116094	EGR2	early growth response 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12116094	EGR2	early growth response 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116094	EGR2	early growth response 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1352442	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12116094	EGR2	early growth response 2	gene	DOID:9008331	Tendon Injuries	treatment	ISO	RGD:621608	D	RGD:9068941	20200609	RGD			PMID:23519232|REF_RGD_ID:10395300
12116104	ANXA11	annexin A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12116104	ANXA11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:7240710	20190315	OMIM			
12116104	ANXA11	annexin A11	gene	DOID:0080225	amyotrophic lateral sclerosis type 23		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 23 | ClinVar Annotator: match by term: ANXA11-related condition | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 23 | ClinVar Annotator: match by term: amyotrophic lateral sclerosis type 23	PMID:16199547|PMID:25741868|PMID:28469040|PMID:28492532|PMID:28889094|PMID:29650794|PMID:29845112|PMID:30109997|PMID:33087501|PMID:33218681|PMID:34275688|PMID:35047667|PMID:36226077|PMID:36280108|PMID:37712079|PMID:37952009|PMID:38896345
12116104	ANXA11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:7240710	20220323	OMIM			
12116104	ANXA11	annexin A11	gene	DOID:0081121	inclusion body myopathy and brain white matter abnormalities		ISO	RGD:1320510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES | ClinVar Annotator: match by term: Inclusion body myopathy and brain white matter abnormalities | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 6	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29845112|PMID:33087501|PMID:34048612
12116104	ANXA11	annexin A11	gene	DOID:10534	stomach cancer		ISO	RGD:1320510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116104	ANXA11	annexin A11	gene	DOID:1115	sarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:11335	sarcoidosis		ISO	RGD:1320510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19165924
12116104	ANXA11	annexin A11	gene	DOID:1909	melanoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116104	ANXA11	annexin A11	gene	DOID:3275	thymoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12116104	ANXA11	annexin A11	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:3409905|PMID:34099057|PMID:9536098
12116104	ANXA11	annexin A11	gene	DOID:4362	cervical cancer		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:5041	esophageal cancer		ISO	RGD:1320510	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116104	ANXA11	annexin A11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12116104	ANXA11	annexin A11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12116104	ANXA11	annexin A11	gene	DOID:630	genetic disease		ISO	RGD:1320510	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28469040|PMID:28492532|PMID:29650794|PMID:33087501
12116104	ANXA11	annexin A11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12116104	ANXA11	annexin A11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12116104	ANXA11	annexin A11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12116122	MYL12B	myosin light chain 12B	gene	DOID:10534	stomach cancer		ISO	RGD:1601728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116122	MYL12B	myosin light chain 12B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116122	MYL12B	myosin light chain 12B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116122	MYL12B	myosin light chain 12B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0060319	cardiac arrest		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:0111428	essential tremor 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:10283	prostate cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate | ClinVar Annotator: match by term: Prostate cancer	PMID:24508459|PMID:25741868|PMID:26344095|PMID:28599312|PMID:28805820|PMID:29996942|PMID:35101336|PMID:36481790
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		protein:decreased expression:stomach (human)	PMID:25204354|REF_RGD_ID:153298922
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:10908	hydrocephalus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:11162	respiratory failure		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:11396	pulmonary edema		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary edema	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:11476	osteoporosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:11830	myopia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:12859	choreatic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23559371|PMID:24508459|PMID:25274033|PMID:25278611|PMID:25766326|PMID:26344095|PMID:27993330|PMID:28448495|PMID:28599312|PMID:28805820|PMID:28805821|PMID:2888|PMID:29996942|PMID:31026449|PMID:31495053|PMID:31776466|PMID:31911863|PMID:34987184|PMID:35101336|PMID:36481790
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1588	thrombocytopenia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1826	epilepsy		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:1924	hypogonadism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2300	spondylolysis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolysis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2355	anemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2712	phimosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:2841	asthma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:3275	thymoma		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:3326	purpura		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Petechiae	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA, protein:increased expression:lung (human)	PMID:28927035|REF_RGD_ID:153298923
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA, protein:increased expression:lung (human)	PMID:31105033|REF_RGD_ID:153298927
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		human gene and cell line in mouse model	PMID:30607139|REF_RGD_ID:153298920
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:543	dystonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:630	genetic disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:6364	migraine		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:6682	spondylolisthesis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylolisthesis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		human cells in mouse model	PMID:33209975|REF_RGD_ID:153298924
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:liver (human)	PMID:26156804|REF_RGD_ID:11074965
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:687	hepatoblastoma		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:liver (human)	PMID:24912477|REF_RGD_ID:153298925
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323163	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:32109420|PMID:33057194|PMID:35982159
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9000641	Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9000727	Syncope		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001031	Retrognathia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001256	Nabais Sa-de Vries Syndrome, Type 1		ISO	RGD:1323163	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly and dysmorphic facies | ClinVar Annotator: match by term: SPOP-related condition | ClinVar Annotator: match by term: SPOP-related neurodevelopmental condition	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001581	Constipation		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9001722	Dysarthria		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9002079	Paresis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22610119|PMID:29295717|PMID:29610475
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9003760	Myalgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:7240710	20200520	OMIM			
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9004007	Nabais Sa-de Vries Syndrome, Type 2		ISO	RGD:1323163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NABAIS SA-DE VRIES SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Nabais Sa-de Vries syndrome, type 2 | ClinVar Annotator: match by term: Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	PMID:25741868|PMID:28492532|PMID:29160310|PMID:32109420|PMID:33057194|PMID:35982159
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9004751	Nausea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9006024	Hypotension		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9006065	Arthralgia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9006617	Fatigue		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9007722	Myoclonus		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:1323163	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008421	Epistaxis		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008675	Dyskinesias		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematochezia	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9220	central sleep apnea		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868|PMID:32109420
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		mRNA:decreased expression:colorectum (human)	PMID:30171794|REF_RGD_ID:153298926
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		DNA:hypermethylation:promoter (human)	PMID:28032859|REF_RGD_ID:153298921
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1323163	D	RGD:9068941	20220729	RGD		protein:decreased expression:colorectum (human)	PMID:26022775|REF_RGD_ID:11056110
12116130	SPOP	speckle type BTB/POZ protein	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:1323163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:32109420
12116150	MOSPD1	motile sperm domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116150	MOSPD1	motile sperm domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116150	MOSPD1	motile sperm domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116150	MOSPD1	motile sperm domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116150	MOSPD1	motile sperm domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15935359|PMID:20093111|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0060058	lymphoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:20093111|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:736157	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1332354	D	RGD:9068941	20200609	RGD			PMID:29505790|REF_RGD_ID:19165131
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0080957	primary hypoalphalipoproteinemia 1		ISO	RGD:736157	D	RGD:7240710	20180802	OMIM			
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0080957	primary hypoalphalipoproteinemia 1		ISO	RGD:736157	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Familial High Density Lipoprotein Deficiency | ClinVar Annotator: match by term: Familial high density lipoprotein deficiency disease | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1	PMID:10431236|PMID:10431237|PMID:10525055|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257260|PMID:11257261|PMID:11476965|PMID:11940086|PMID:12009425|PMID:12054535|PMID:12084722|PMID:12111381|PMID:12204794|PMID:12509412|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18625867|PMID:18776170|PMID:19019193|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23087442|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:34906502|PMID:35460704|PMID:36053979|PMID:36973604|PMID:7945562
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0080957	primary hypoalphalipoproteinemia 1		ISO	RGD:736157	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCA1-related disorder | ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 1 | ClinVar Annotator: match by term: hypoalphalipoproteinemia, primary, 1	PMID:10431237|PMID:10525055|PMID:10938021|PMID:11238261|PMID:11257260|PMID:11257261|PMID:12084722|PMID:12509412|PMID:12763760|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18625867|PMID:18776170|PMID:19019193|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20800056|PMID:21315358|PMID:21860089|PMID:22466610|PMID:22923419|PMID:23139370|PMID:23152888|PMID:23685560|PMID:24497850|PMID:24503134|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29150341|PMID:29535370|PMID:30333156|PMID:32041611|PMID:34426522|PMID:34906502|PMID:34930245|PMID:35460704|PMID:36333282|PMID:36973604|PMID:40617357
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0080958	primary hypoalphalipoproteinemia 2		ISO	RGD:736157	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoalphalipoproteinemia, primary, 2	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532|PMID:32041611
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:736157	D	RGD:9068941	20230824	RGD		mRNA,protein:decreased expression:aorta	PMID:33035679|REF_RGD_ID:401793744
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:10534	stomach cancer		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736157	D	RGD:9068941	20200609	RGD			PMID:15024730|REF_RGD_ID:1300323
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:10787	premature menopause		ISO	RGD:631344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, jejunum (rat)	PMID:24619822|REF_RGD_ID:19165129
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:631344	D	RGD:9068941	20200609	RGD			PMID:12507911|REF_RGD_ID:1598547
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10431237|PMID:11238261|PMID:12763760|PMID:15297675|PMID:15486467|PMID:15520867|PMID:16226177|PMID:16429166|PMID:16806540|PMID:17303779|PMID:18523221|PMID:18776170|PMID:19596329|PMID:20800056|PMID:24503134|PMID:25741868|PMID:26255038|PMID:26350511|PMID:28492532|PMID:29150341|PMID:30333156|PMID:32041611|PMID:35460704|PMID:40617357
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1168	familial hyperlipidemia	treatment	ISO	RGD:631344	D	RGD:9068941	20200609	RGD			PMID:23185768|REF_RGD_ID:21408557
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:736157	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28660384|REF_RGD_ID:21203516
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1324	lung cancer		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:15935359|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:631344	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver, basolateral plasma membrane (rat)	PMID:28660384|REF_RGD_ID:21203516
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19743957|PMID:20800056|PMID:22466610|PMID:23139370|PMID:24497850|PMID:25215231|PMID:25741868|PMID:26350511|PMID:28492532|PMID:29535370|PMID:32041611|PMID:34426522|PMID:34930245|PMID:36333282|PMID:40617357
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1387	hypolipoproteinemia		ISO	RGD:736157	D	RGD:9068941	20200609	RGD			PMID:11086027|REF_RGD_ID:1600951
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1388	Tangier disease		ISO	RGD:736157	D	RGD:7240710	20180130	OMIM			
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1388	Tangier disease		ISO	RGD:736157	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ABCA1 polymorphism | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: Tangier disease	PMID:10431236|PMID:10431237|PMID:10535983|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:11476961|PMID:11476965|PMID:11940086|PMID:12111381|PMID:12204794|PMID:12624133|PMID:12702168|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18199144|PMID:18354102|PMID:18523221|PMID:18776170|PMID:19133158|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20595220|PMID:20656214|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21860089|PMID:21875686|PMID:22923419|PMID:22923420|PMID:22995991|PMID:23087442|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24097981|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31973102|PMID:32041611|PMID:35460704|PMID:36053979
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1388	Tangier disease		ISO	RGD:736157	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCA1-related condition | ClinVar Annotator: match by term: Cholesterol thesaurismosis | ClinVar Annotator: match by term: High density lipoprotein deficiency, Tangier type | ClinVar Annotator: match by term: TANGIER DISEASE | ClinVar Annotator: match by term: Tangier disease	PMID:10431237|PMID:10525055|PMID:10706591|PMID:10760292|PMID:10938021|PMID:11111099|PMID:11238261|PMID:11257260|PMID:11257261|PMID:11476961|PMID:11476965|PMID:12084722|PMID:12111381|PMID:12509412|PMID:12763760|PMID:15262183|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16429166|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18625867|PMID:18776170|PMID:19019193|PMID:19556721|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20093111|PMID:20418488|PMID:20427018|PMID:20656214|PMID:20800056|PMID:20880529|PMID:21315358|PMID:21860089|PMID:22466610|PMID:22959828|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23685560|PMID:24097981|PMID:24497850|PMID:24503134|PMID:25215231|PMID:25308558|PMID:25741868|PMID:26255038|PMID:26350511|PMID:26479764|PMID:27853448|PMID:27884173|PMID:28492532|PMID:29150341|PMID:29535370|PMID:30333156|PMID:32041611|PMID:34426522|PMID:34930245|PMID:35460704|PMID:36333282|PMID:40617357
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:631344	D	RGD:9068941	20250619	RGD		mRNA:increased expression, decreased expression:nucleus accumbens, prefrontal cortex (rat)	PMID:30618609|REF_RGD_ID:616363157
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1909	melanoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1936	atherosclerosis		ISO	RGD:736157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022523
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:1332354	D	RGD:9068941	20230930	RGD			PMID:29593532|REF_RGD_ID:401827839
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:3275	thymoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:3393	coronary artery disease		ISO	RGD:736157	D	RGD:9068941	20200609	RGD			PMID:11086027|REF_RGD_ID:1600951
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:3571	liver cancer	severity	ISO	RGD:1332354	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (mouse)	PMID:30580964|REF_RGD_ID:24922199
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:4362	cervical cancer		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:15935359|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15935359|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:10431237|PMID:16429166|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:736157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21245421
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:10431237|PMID:16429166|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:20093111|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:15935359|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:736157	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (human)	PMID:30580964|REF_RGD_ID:24922199
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:783	end stage renal disease		ISO	RGD:736157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:783	end stage renal disease	ameliorates	ISO	RGD:631344	D	RGD:9068941	20230914	RGD			PMID:19878707|REF_RGD_ID:2326081
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:736157	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Early-onset coronary artery disease	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:631344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, jejunum (rat)	PMID:24619822|REF_RGD_ID:19165129
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022523
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9002117	Hypoalphalipoproteinemias		ISO	RGD:736157	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease	PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9002117	Hypoalphalipoproteinemias		ISO	RGD:736157	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease	PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19202195|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21860089|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23559627|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26073400|PMID:26079414|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28634189|PMID:28870971|PMID:29083407|PMID:30333156|PMID:7945562
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9002117	Hypoalphalipoproteinemias		ISO	RGD:736157	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypoalphalipoproteinemia | ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY | ClinVar Annotator: match by term: Hdl lipoprotein deficiency disease	PMID:10431237|PMID:10706591|PMID:10938021|PMID:11238261|PMID:11257261|PMID:12204794|PMID:12624133|PMID:12763760|PMID:15019541|PMID:15297675|PMID:15486467|PMID:15520867|PMID:15790791|PMID:15935359|PMID:16226177|PMID:16343503|PMID:16372134|PMID:16429166|PMID:16704350|PMID:16806540|PMID:16855366|PMID:16873719|PMID:17113061|PMID:17303779|PMID:17383594|PMID:18523221|PMID:18776170|PMID:19596329|PMID:19743957|PMID:20011639|PMID:20418488|PMID:20427018|PMID:20800056|PMID:20849526|PMID:20880529|PMID:20981092|PMID:21315358|PMID:21575609|PMID:21875686|PMID:22923420|PMID:22959828|PMID:22995991|PMID:23136402|PMID:23139370|PMID:23152888|PMID:23376243|PMID:23685560|PMID:23770607|PMID:24036952|PMID:24456889|PMID:24497850|PMID:24503134|PMID:24894453|PMID:25215231|PMID:25741868|PMID:26255038|PMID:26350511|PMID:27745835|PMID:27884173|PMID:28492532|PMID:28870971|PMID:29083407|PMID:29224928|PMID:29535370|PMID:30333156|PMID:30795984|PMID:31153847|PMID:32041611|PMID:35460704|PMID:36053979|PMID:36973604|PMID:7945562
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9002117	Hypoalphalipoproteinemias		ISO	RGD:736157	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HIGH DENSITY LIPOPROTEIN DEFICIENCY	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9002189	High Myopia		ISO	RGD:736157	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:736157	D	RGD:9068941	20200609	RGD		DNA:SNP:introns:(rs3890182, rs1883025) (human)	PMID:28164591|REF_RGD_ID:21066337
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736157	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1332354	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (mouse)	PMID:25217640|REF_RGD_ID:21408550
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:736157	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B	PMID:19743957|PMID:20800056|PMID:24497850|PMID:25215231|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:736157	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R230C (rs9282541) (human)	PMID:17287470|REF_RGD_ID:1601092
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:10525055|PMID:10760292|PMID:15935359|PMID:16199547|PMID:20880529|PMID:25741868|PMID:28492532|PMID:30333156
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15935359|PMID:25741868|PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10525055|PMID:10760292|PMID:16199547|PMID:20880529|PMID:28492532|PMID:30333156
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532|PMID:32041611
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:736157	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R230C (rs9282541) (human)	PMID:18003760|REF_RGD_ID:2312576
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:736157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:10431237|PMID:11238261|PMID:16429166|PMID:16806540|PMID:17303779|PMID:18776170|PMID:20800056|PMID:24503134|PMID:25741868|PMID:26255038|PMID:28492532|PMID:29150341
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1332354	D	RGD:9068941	20200609	RGD			PMID:26362727|REF_RGD_ID:21408552
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:1332354	D	RGD:9068941	20200609	RGD		associated with adult growth hormone deficiency	PMID:30130150|REF_RGD_ID:18936993
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9970	obesity	disease_progression	ISO	RGD:631344	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:25612518|REF_RGD_ID:15045599
12116164	ABCA1	ATP binding cassette subfamily A member 1	gene	DOID:9970	obesity	susceptibility	ISO	RGD:736157	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R230C (rs9282541) (human)	PMID:17287470|REF_RGD_ID:1601092
12116220	REST	RE1 silencing transcription factor	gene	DOID:0070771	gingival fibromatosis 1		ISO	RGD:1347756	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fibromatosis, gingival, 1	PMID:28492532|PMID:28686854
12116220	REST	RE1 silencing transcription factor	gene	DOID:0080280	gingival fibromatosis 5		ISO	RGD:1347756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 5 | ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5	PMID:25741868|PMID:28492532|PMID:28686854|PMID:33719663
12116220	REST	RE1 silencing transcription factor	gene	DOID:0080280	gingival fibromatosis 5	susceptibility	ISO	RGD:1347756	D	RGD:7240710	20260805	OMIM			
12116220	REST	RE1 silencing transcription factor	gene	DOID:0110556	autosomal dominant nonsyndromic deafness 27		ISO	RGD:1347756	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 27 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 27 | ClinVar Annotator: match by term: Deafness, autosomal dominant 27	PMID:25741868|PMID:28492532
12116220	REST	RE1 silencing transcription factor	gene	DOID:0110556	autosomal dominant nonsyndromic deafness 27	susceptibility	ISO	RGD:1347756	D	RGD:7240710	20260805	OMIM			
12116220	REST	RE1 silencing transcription factor	gene	DOID:11832	visual epilepsy		ISO	RGD:1347756	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:21905079
12116220	REST	RE1 silencing transcription factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:1347756	D	RGD:9068941	20250201	RGD		protein:increased expression:basal forebrain	PMID:37402853|REF_RGD_ID:597538603
12116220	REST	RE1 silencing transcription factor	gene	DOID:2154	nephroblastoma		ISO	RGD:1347756	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551668
12116220	REST	RE1 silencing transcription factor	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1347756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:26551668|PMID:27993330
12116220	REST	RE1 silencing transcription factor	gene	DOID:630	genetic disease		ISO	RGD:1347756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36509837
12116220	REST	RE1 silencing transcription factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:621069	D	RGD:9068941	20250201	RGD		mRNA:increased expression:basal forebrain cholinergic neurons	PMID:37402853|REF_RGD_ID:597538603
12116220	REST	RE1 silencing transcription factor	gene	DOID:9007268	Wilms Tumor 6		ISO	RGD:1347756	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Childhood kidney Wilms tumor | ClinVar Annotator: match by term: Wilms tumor 6	PMID:25741868|PMID:26551668|PMID:28492532
12116220	REST	RE1 silencing transcription factor	gene	DOID:9007268	Wilms Tumor 6	susceptibility	ISO	RGD:1347756	D	RGD:7240710	20260805	OMIM			
12116220	REST	RE1 silencing transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116220	REST	RE1 silencing transcription factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:10283	prostate cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:1107	esophageal carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20221020	RGD		mRNA:decreased expression:espohagus (human)	PMID:32831056|REF_RGD_ID:155630592
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:1115	sarcoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:1612	breast cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:1612	breast cancer	exacerbates	ISO	RGD:1557151	D	RGD:9068941	20220923	RGD			PMID:21317887|REF_RGD_ID:155249848
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:1909	melanoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:219	colon cancer		ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		mRNA:splice variant:exon 2: (human)	PMID:32601196|REF_RGD_ID:155230826
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347407	D	RGD:9068941	20221020	RGD		human cell line and gene in a mouse model	PMID:18436711|REF_RGD_ID:155630593
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:2596	larynx cancer	ameliorates	ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		mRNA:increased expression:larynx (human)	PMID:32791689|REF_RGD_ID:155256869
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3275	thymoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3905	lung carcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		DNA:missense mutation:CDS:p.E116K (human)	PMID:27028764|REF_RGD_ID:11529413
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1557151	D	RGD:9068941	20220923	RGD		mRNA:decreased expression:lung (human)	PMID:31089135|REF_RGD_ID:155253742
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1557151	D	RGD:9068941	20220923	RGD			PMID:21317887|REF_RGD_ID:155249848
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		DNA:SNP:3' utr: (rs3679) (human)	PMID:27861856|REF_RGD_ID:155230827
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1347407	D	RGD:9068941	20220922	RGD		human gene in a mouse model	PMID:34236045|REF_RGD_ID:155230828
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:5419	schizophrenia		ISO	RGD:1557151	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:6000	congestive heart failure		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:769	neuroblastoma		ISO	RGD:1347407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:1347407	D	RGD:9068941	20200609	RGD		protein:increased expression	PMID:17577251|REF_RGD_ID:2293334
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9000784	Fibrosis		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:increased in high-grade prostatic intraepithelial neoplasias and tumor tissues (p<0.0001)	PMID:17577251|REF_RGD_ID:2293334
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		expression inhibits metastatic colonization of secondary sites by cancer cells in the AT6.1 model system	PMID:16322247|REF_RGD_ID:2293337
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9002762	Ovarian Neoplasms	no_association	ISO	RGD:1557151	D	RGD:9068941	20200609	RGD		expression has no effect on metastatic colonization of secondary sites by cancer cells in the SKOV3ip.1 cell line model system	PMID:16489030|REF_RGD_ID:2293338
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1347407	D	RGD:9068941	20220923	RGD		associated with colon cancer;protein:increased expression:colon (human)	PMID:24533778|REF_RGD_ID:155259116
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1347407	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12116231	MAP2K7	mitogen-activated protein kinase kinase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16055083
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:10763	hypertension		ISO	RGD:620515	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta (rat)	PMID:9494115|REF_RGD_ID:633385
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:10763	hypertension		ISO	RGD:731042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:731042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:731042	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.K167N (human)	PMID:15562935|REF_RGD_ID:1580994
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:731042	D	RGD:9068941	20200609	RGD		DNA:snp:3' utr:T>C (human)	PMID:12810610|REF_RGD_ID:1580995
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:731042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:731042	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: OLR1-related condition	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:731042	D	RGD:7240710	20190502	OMIM			
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:731042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22352330
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:731042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:783	end stage renal disease		ISO	RGD:620515	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney (rat)	PMID:12661921|REF_RGD_ID:1580992
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:620515	D	RGD:9068941	20200609	RGD			PMID:12384456|REF_RGD_ID:628368
12116254	OLR1	oxidized low density lipoprotein receptor 1	gene	DOID:9246	cerebral amyloid angiopathy		ISO	RGD:731042	D	RGD:9068941	20200609	RGD			PMID:16328515|REF_RGD_ID:1580993
12116268	LTB4R2	leukotriene B4 receptor 2	gene	DOID:9004610	Acute Lung Injury	severity	ISO	RGD:732977	D	RGD:9068941	20210108	RGD		associated with Endotoxemia	PMID:27703200|REF_RGD_ID:40903067
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:3275	thymoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1347857	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347857	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:17592021
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347857	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116283	STARD3	StAR related lipid transfer domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1347857	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12116317	GNB5	G protein subunit beta 5	gene	DOID:0081008	Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia		ISO	RGD:731985	D	RGD:7240710	20190315	OMIM			
12116317	GNB5	G protein subunit beta 5	gene	DOID:0081008	Lodder-Merla syndrome type 1 with impaired intellectual development and cardiac arrhythmia		ISO	RGD:731985	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GNB5-related condition | ClinVar Annotator: match by term: Gnb5-related intellectual disability-cardiac arrhythmia syndrome | ClinVar Annotator: match by term: LODDER-MERLA SYNDROME, TYPE 1, WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CARDIAC ARRHYTHMIA	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:31720979|PMID:32203251|PMID:32280589|PMID:32987464|PMID:33176815|PMID:37994112
12116317	GNB5	G protein subunit beta 5	gene	DOID:0111406	Fraser syndrome 3		ISO	RGD:731985	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fraser syndrome 3	
12116317	GNB5	G protein subunit beta 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116317	GNB5	G protein subunit beta 5	gene	DOID:1115	sarcoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:1909	melanoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:3275	thymoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:4362	cervical cancer		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116317	GNB5	G protein subunit beta 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:630	genetic disease		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116317	GNB5	G protein subunit beta 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:9000267	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA		ISO	RGD:731985	D	RGD:7240710	20190315	OMIM			
12116317	GNB5	G protein subunit beta 5	gene	DOID:9000267	LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA		ISO	RGD:731985	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:31631344|PMID:31720979|PMID:32203251|PMID:32280589|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:9003507	Premature Birth		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:27523599|PMID:27677260|PMID:29368331|PMID:30631341|PMID:31130284|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116317	GNB5	G protein subunit beta 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731985	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741873|PMID:27523599|PMID:27677260|PMID:30631341|PMID:31130284|PMID:33172956|PMID:33176815
12116317	GNB5	G protein subunit beta 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731985	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12116317	GNB5	G protein subunit beta 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0050567	orofacial cleft		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0060260	ptosis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:732165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Severe neonatal hypotonia improving with age	PMID:25741868
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0080855	Parkinsonism		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081295	essential tremor 6		ISO	RGD:732165	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Tremor, hereditary essential, 6	PMID:28492532|PMID:34913263
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081337	congenital myopathy		ISO	RGD:732165	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868|PMID:26700687|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081354	congenital myopathy 22A		ISO	RGD:732165	D	RGD:7240710	20230517	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081354	congenital myopathy 22A		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 22A, CLASSIC | ClinVar Annotator: match by term: Congenital myopathy 22A, classic | ClinVar Annotator: match by term: SCN4A-related myopathy, autosomal recessive	PMID:10944223|PMID:11558801|PMID:11912116|PMID:1310898|PMID:1338909|PMID:14504341|PMID:15482957|PMID:15534250|PMID:15596759|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17330043|PMID:17591984|PMID:17823953|PMID:18046642|PMID:18162704|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19118277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301512|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22253645|PMID:22926674|PMID:23019082|PMID:23516313|PMID:23801527|PMID:23884711|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:25839108|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:29606556|PMID:29930533|PMID:30283817|PMID:30369941|PMID:30476936|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31567646|PMID:31708864|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32487525|PMID:32533946|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33263785|PMID:33345742|PMID:33726816|PMID:33965302|PMID:35037686|PMID:35907044|PMID:36090556|PMID:36099689|PMID:36733446|PMID:36779057|PMID:36796140|PMID:38609989|PMID:7473241|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8044656|PMID:8058156|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:9131651|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081355	congenital myopathy 22B		ISO	RGD:732165	D	RGD:7240710	20230607	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0081355	congenital myopathy 22B		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 22B, SEVERE FETAL | ClinVar Annotator: match by term: Congenital myopathy 22B, severe fetal	PMID:10944223|PMID:11558801|PMID:11912116|PMID:1310898|PMID:1338909|PMID:14504341|PMID:15482957|PMID:15534250|PMID:15596759|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17330043|PMID:17591984|PMID:17823953|PMID:18046642|PMID:18162704|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19118277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:20301512|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22253645|PMID:22926674|PMID:23019082|PMID:23516313|PMID:23801527|PMID:23884711|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:25839108|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:29606556|PMID:29930533|PMID:30369941|PMID:30476936|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31567646|PMID:31708864|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32487525|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33345742|PMID:33726816|PMID:33965302|PMID:35907044|PMID:36733446|PMID:36779057|PMID:36796140|PMID:38609989|PMID:7473241|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8044656|PMID:8058156|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:9131651|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0110682	congenital myasthenic syndrome 16		ISO	RGD:732165	D	RGD:7240710	20180130	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0110682	congenital myasthenic syndrome 16		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 16 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 16	PMID:10534266|PMID:10944223|PMID:11558801|PMID:11912116|PMID:12562902|PMID:12766226|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:15482957|PMID:15534250|PMID:15596759|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17008310|PMID:17330043|PMID:17576681|PMID:17591984|PMID:17823953|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22253645|PMID:22507243|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23801527|PMID:23884711|PMID:23958773|PMID:24356988|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25707578|PMID:25741868|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26659129|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:27535533|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:28779239|PMID:29396561|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30369941|PMID:30476936|PMID:30611854|PMID:30824560|PMID:30931713|PMID:30945278|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31567646|PMID:31708864|PMID:31772215|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32407401|PMID:32487525|PMID:32509969|PMID:32593548|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33084218|PMID:33263785|PMID:33345742|PMID:33430134|PMID:33726816|PMID:33965302|PMID:35907044|PMID:36090556|PMID:36733446|PMID:36779057|PMID:36796140|PMID:37234784|PMID:38609989|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9536098|PMID:9660885|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0110986	Joubert Syndrome 17		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 17	PMID:10534266|PMID:15534250|PMID:18046642|PMID:20981092|PMID:25741868|PMID:26036855|PMID:26467025|PMID:27535533|PMID:28492532|PMID:29606556|PMID:7695243|PMID:9266738|PMID:9660885
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0111538	paramyotonia congenita of Von Eulenburg		ISO	RGD:732165	D	RGD:7240710	20180425	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0111538	paramyotonia congenita of Von Eulenburg		ISO	RGD:732165	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita	PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10944223|PMID:11309455|PMID:11558801|PMID:11723275|PMID:11744749|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15774523|PMID:15790667|PMID:16392038|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17591984|PMID:17823953|PMID:17998485|PMID:18033047|PMID:18046642|PMID:18166706|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19770477|PMID:19840739|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21317558|PMID:21490317|PMID:21520339|PMID:2173143|PMID:21841462|PMID:22094069|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23771340|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24939454|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26700687|PMID:26834636|PMID:26885337|PMID:26944947|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:29050397|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30931713|PMID:31127727|PMID:31567646|PMID:31772215|PMID:32026975|PMID:32276507|PMID:32528171|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33263785|PMID:33325393|PMID:33573884|PMID:34008892|PMID:34418069|PMID:35350395|PMID:35866763|PMID:36782059|PMID:7473241|PMID:7676326|PMID:7695243|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8388676|PMID:8580427|PMID:8583225|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9266738|PMID:9392583|PMID:9508833|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:0111538	paramyotonia congenita of Von Eulenburg		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PARAMYOTONIA CONGENITA | ClinVar Annotator: match by term: Paramyotonia Congenita | ClinVar Annotator: match by term: Paramyotonia congenita of Von Eulenburg | ClinVar Annotator: match by term: Von Eulenburg paramyotonia congenita	PMID:10227633|PMID:10534266|PMID:10944223|PMID:11558801|PMID:11744749|PMID:11912116|PMID:11971097|PMID:12562902|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15596759|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17330043|PMID:17591984|PMID:17823953|PMID:17998485|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22250216|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24356988|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:2649440|PMID:26494408|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:27535533|PMID:27714768|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29396561|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30369941|PMID:30476936|PMID:30611854|PMID:30931713|PMID:30945278|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31544778|PMID:31567646|PMID:31708864|PMID:31772215|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32407401|PMID:32487525|PMID:32509969|PMID:32593548|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:32962503|PMID:33084218|PMID:33263785|PMID:33345742|PMID:33430134|PMID:33573884|PMID:33726816|PMID:33965302|PMID:34996390|PMID:35907044|PMID:36733446|PMID:36779057|PMID:36782059|PMID:36796140|PMID:37234784|PMID:38609989|PMID:38951973|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:8740371|PMID:8902732|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9508833|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:10629	microphthalmia		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microphthalmia	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11155	hypohidrosis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11162	respiratory failure		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11782	astigmatism		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11830	myopia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:11836	clubfoot		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:12176	goiter		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:12270	coloboma		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1247	blood coagulation disease		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:12849	autistic disorder		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:7240710	20180130	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10381583|PMID:10599760|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16386935|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22094484|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:29050397|PMID:29111379|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32369273|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32801145|PMID:32849172|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33965302|PMID:34008892|PMID:34290819|PMID:34378097|PMID:34418069|PMID:34608571|PMID:34908252|PMID:35037686|PMID:35350395|PMID:35759432|PMID:35866763|PMID:36782059|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9130156|PMID:9131651|PMID:9266738
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Adynamia episodica hereditaria with or without myotonia | ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:10200418|PMID:10206477|PMID:10218481|PMID:10227633|PMID:10366610|PMID:10369308|PMID:10381583|PMID:10599760|PMID:10682917|PMID:10851391|PMID:10944223|PMID:11102465|PMID:11309455|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11723275|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:12766226|PMID:12872329|PMID:12898257|PMID:12933953|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15037716|PMID:15318338|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15583983|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16386935|PMID:16392038|PMID:1659668|PMID:1659948|PMID:16624558|PMID:1668369|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16870577|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17334961|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19347921|PMID:19770477|PMID:19840739|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20681998|PMID:20713951|PMID:20869590|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:2173143|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22094484|PMID:22106717|PMID:22250216|PMID:22253644|PMID:22253645|PMID:22257501|PMID:22507243|PMID:22643347|PMID:22653516|PMID:22759684|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23417379|PMID:23473731|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25326635|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25707578|PMID:25724373|PMID:25735906|PMID:25741868|PMID:25755818|PMID:25839108|PMID:25961944|PMID:26036855|PMID:26080010|PMID:26220970|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26494408|PMID:26633542|PMID:26659129|PMID:26700687|PMID:26834636|PMID:26865514|PMID:26885337|PMID:26944947|PMID:26986070|PMID:27060299|PMID:27104891|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27653901|PMID:27714768|PMID:27858759|PMID:27922499|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:28993909|PMID:29050397|PMID:29111379|PMID:29246312|PMID:29391559|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29769724|PMID:29774303|PMID:29790872|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30028520|PMID:30038349|PMID:30172468|PMID:30283817|PMID:30369941|PMID:30390395|PMID:30611854|PMID:30647473|PMID:30824560|PMID:30931713|PMID:31068157|PMID:31127727|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31732390|PMID:31772215|PMID:32026975|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32276507|PMID:32369273|PMID:32411069|PMID:32528171|PMID:32533946|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32798841|PMID:32801145|PMID:32849172|PMID:33060286|PMID:33123387|PMID:33146414|PMID:33263785|PMID:33325393|PMID:33343696|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33820833|PMID:33879512|PMID:33965302|PMID:34008892|PMID:34011629|PMID:34290819|PMID:34378097|PMID:34418069|PMID:34608571|PMID:34908252|PMID:34913263|PMID:35037686|PMID:35350395|PMID:35759432|PMID:35866763|PMID:36090556|PMID:36099689|PMID:36116128|PMID:36782059|PMID:36796140|PMID:3822145|PMID:7473241
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Gamstorp episodic adynamy | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Paramyotonia congenita/hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:7533571|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8388676|PMID:8542048|PMID:8580427|PMID:8583225|PMID:8619545|PMID:8740371|PMID:8833340|PMID:8902732|PMID:8910215|PMID:8985730|PMID:9130156|PMID:9131651|PMID:9266738|PMID:9336185|PMID:9339683|PMID:9392583|PMID:9508833|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: HYPERKALEMIC PERIODIC PARALYSIS | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:10200418|PMID:10369308|PMID:10381583|PMID:10599760|PMID:10851391|PMID:11422459|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12483017|PMID:12552059|PMID:12562902|PMID:1310898|PMID:1316765|PMID:14518676|PMID:14557559|PMID:14617673|PMID:14635102|PMID:15318338|PMID:15534250|PMID:15596759|PMID:15642860|PMID:15790667|PMID:16199547|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16890191|PMID:17212350|PMID:17395131|PMID:17576681|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18033047|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20713951|PMID:20869590|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21520339|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22106717|PMID:22253644|PMID:22914841|PMID:22926674|PMID:23417379|PMID:23516313|PMID:23589580|PMID:23675308|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25311598|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26256659|PMID:26423924|PMID:26467025|PMID:26484179|PMID:2649440|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27164696|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27653901|PMID:27714768|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28344441|PMID:28492532|PMID:28662944|PMID:28940424|PMID:28993909|PMID:29111379|PMID:29273096|PMID:29391559|PMID:29396561|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29674667|PMID:29769724|PMID:29930533|PMID:29946067|PMID:30028520|PMID:30283817|PMID:30369941|PMID:30611854|PMID:30824560|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31492720|PMID:31567646|PMID:31609695|PMID:31708864|PMID:31732390|PMID:31772215|PMID:32019516|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32411069|PMID:32487525|PMID:32508047|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:32962503|PMID:33060286|PMID:33146414|PMID:33263785|PMID:33345742|PMID:33573884|PMID:33670307|PMID:33820833|PMID:33879512|PMID:33965302|PMID:34608571|PMID:35670010|PMID:35907044|PMID:36099689|PMID:36733446|PMID:36779057|PMID:36782059|PMID:36796140|PMID:37234784|PMID:38427496|PMID:38609989|PMID:38951973|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:8580427|PMID:8619545|PMID:8833340|PMID:8902732|PMID:8910215|PMID:9131651|PMID:9339683|PMID:9508833|PMID:9536098|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14451	hyperkalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hyperkalemic periodic paralysis | ClinVar Annotator: match by term: Gamstorp disease | ClinVar Annotator: match by term: Hyperkalemic periodic paralysis | ClinVar Annotator: match by term: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:10200418|PMID:10369308|PMID:10381583|PMID:10534266|PMID:10599760|PMID:10682917|PMID:10851391|PMID:10944223|PMID:11422459|PMID:11558801|PMID:11591859|PMID:11744749|PMID:11757950|PMID:11912116|PMID:11971097|PMID:12562902|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:14518676|PMID:14557559|PMID:14617673|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15596759|PMID:15642860|PMID:15645704|PMID:15774523|PMID:15790667|PMID:16199547|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16801039|PMID:16832098|PMID:16890191|PMID:17212350|PMID:17330043|PMID:17395131|PMID:17576681|PMID:17591984|PMID:17823953|PMID:17898326|PMID:17998485|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18203179|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18690054|PMID:18824591|PMID:19015492|PMID:19052238|PMID:19065518|PMID:19077043|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19221125|PMID:19225109|PMID:19290024|PMID:19770477|PMID:19876661|PMID:19882638|PMID:20038812|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20495927|PMID:20522878|PMID:20660662|PMID:20713951|PMID:20869590|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21221019|PMID:21317558|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21664816|PMID:21665479|PMID:21665951|PMID:21698652|PMID:21708955|PMID:21841462|PMID:21881211|PMID:22094069|PMID:22106717|PMID:22253644|PMID:22253645|PMID:22507243|PMID:22914841|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23589580|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24324661|PMID:24356988|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24939454|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25454733|PMID:25483584|PMID:25660391|PMID:25724373|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26256659|PMID:26423924|PMID:26427606|PMID:26467025|PMID:2649440|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27104891|PMID:27199537|PMID:27415035|PMID:27486940|PMID:27535533|PMID:27653901|PMID:27714768|PMID:28024841|PMID:28150151|PMID:28262468|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:28662944|PMID:28779239|PMID:28877545|PMID:28940424|PMID:28993909|PMID:29111379|PMID:29391559|PMID:29396561|PMID:29419865|PMID:29451154|PMID:29605429|PMID:29606556|PMID:29769724|PMID:29774303|PMID:29930533|PMID:29946067|PMID:29991727|PMID:30283817|PMID:30369941|PMID:30476936|PMID:30611854|PMID:30824560|PMID:30931713|PMID:30945278|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31492720|PMID:31544778|PMID:31567646|PMID:31609695|PMID:31708864|PMID:31732390|PMID:31772215|PMID:32066100|PMID:32117035|PMID:32129495|PMID:32355288|PMID:32407401|PMID:32411069|PMID:32487525|PMID:32508047|PMID:32509969|PMID:32528171|PMID:32593548|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:32962503|PMID:33060286|PMID:33084218|PMID:33146414|PMID:33263785|PMID:33345742|PMID:33430134|PMID:33573884|PMID:33670307|PMID:33726816|PMID:33820833|PMID:33879512|PMID:33965302|PMID:34608571|PMID:34996390|PMID:35670010|PMID:35907044|PMID:36099689|PMID:36733446|PMID:36779057|PMID:36782059|PMID:36796140|PMID:37234784|PMID:38427496|PMID:38609989|PMID:38951973|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:8542048|PMID:8580427|PMID:8619545|PMID:8740371|PMID:8902732|PMID:8910215|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9508833|PMID:9536098|PMID:9618291|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:14452	hypokalemic periodic paralysis		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HypoPP | ClinVar Annotator: match by term: Hypokalemic periodic paralysis	PMID:10534266|PMID:10944223|PMID:11558801|PMID:11591859|PMID:11912116|PMID:12562902|PMID:1310898|PMID:14504341|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15596759|PMID:15645704|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16832098|PMID:17330043|PMID:17591984|PMID:18046642|PMID:18166706|PMID:18317596|PMID:18824591|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301669|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22253645|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23801527|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26467025|PMID:26700687|PMID:26944947|PMID:27535533|PMID:28325641|PMID:28492532|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30611854|PMID:31068157|PMID:31772215|PMID:32066100|PMID:32407401|PMID:32509969|PMID:32593548|PMID:32660787|PMID:32849172|PMID:33084218|PMID:36733446|PMID:36779057|PMID:36796140|PMID:38609989|PMID:7473241|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7980103|PMID:8058156|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9660885|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1596	depressive disorder		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:732165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28344441|PMID:28492532|PMID:31068157|PMID:31567646|PMID:31708864|PMID:33263785|PMID:33345742|PMID:33965302
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1826	epilepsy		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:732165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28344441|PMID:28492532|PMID:31068157|PMID:31567646|PMID:31708864|PMID:33263785|PMID:33345742|PMID:33965302
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1891	optic nerve disease		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1924	hypogonadism		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:1969	cerebral palsy		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2030	anxiety disorder		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2106	myotonia congenita		ISO	RGD:732165	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Myotonia congenita	PMID:25741868
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2468	psychotic disorder		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2841	asthma		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:2843	long QT syndrome		ISO	RGD:732165	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:3144	cutis laxa		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:3312	bipolar disorder		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:732165	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:12766226
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:3650	lactic acidosis		ISO	RGD:732165	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:19118277|PMID:21665951|PMID:21841462|PMID:23516313|PMID:24549961|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29606556|PMID:32066100|PMID:32660787|PMID:36733446|PMID:36779057|PMID:38609989
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:423	myopathy		ISO	RGD:732165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28344441|PMID:28492532|PMID:31068157|PMID:31567646|PMID:31708864|PMID:33263785|PMID:33345742|PMID:33965302
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:450	myotonic disease		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Paramyotonia congenita/myotonia congenita	PMID:10682917|PMID:11744749|PMID:1338909|PMID:16392038|PMID:23771340|PMID:25741868|PMID:26467025|PMID:28492532|PMID:7980103|PMID:9618291|PMID:9660885
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:4500	hypokalemia		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:480	movement disease		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:5419	schizophrenia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:630	genetic disease		ISO	RGD:732165	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10851391|PMID:11723275|PMID:1338909|PMID:14557559|PMID:17898326|PMID:18337100|PMID:18337730|PMID:20076800|PMID:21221019|PMID:22926674|PMID:25454733|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26700687|PMID:26986070|PMID:27164696|PMID:28330959|PMID:28492532|PMID:29451154|PMID:29606556|PMID:32849172|PMID:34418069|PMID:7809121
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:630	genetic disease		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15389891|PMID:16392038|PMID:16832098|PMID:17823953|PMID:18166706|PMID:18337730|PMID:20713951|PMID:23771340|PMID:23810313|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:28325641|PMID:28492532|PMID:28877545|PMID:29606556|PMID:31544778|PMID:32593548|PMID:32660787|PMID:32670189|PMID:33263785|PMID:33573884|PMID:34996390|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8308722|PMID:8740371
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:767	muscular atrophy		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:7998	hyperthyroidism		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732165	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28344441|PMID:28492532|PMID:31068157|PMID:31567646|PMID:31708864|PMID:33263785|PMID:33345742|PMID:33965302
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:12562902|PMID:1316765|PMID:18166706|PMID:18337730|PMID:22507243|PMID:25741868|PMID:26467025|PMID:27415035|PMID:28492532|PMID:28779239|PMID:30931713|PMID:30945278|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33430134|PMID:35907044|PMID:7676326|PMID:7809121|PMID:8005599|PMID:8110459
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9001239	Delayed Puberty		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9001333	Hypokalemic Periodic Paralysis, Type 2		ISO	RGD:732165	D	RGD:7240710	20180130	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9001333	Hypokalemic Periodic Paralysis, Type 2		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 | ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 2	PMID:10534266|PMID:10944223|PMID:11558801|PMID:11591859|PMID:11744749|PMID:11912116|PMID:12562902|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15557532|PMID:15596759|PMID:15645704|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:16890191|PMID:17330043|PMID:17591984|PMID:17823953|PMID:18041053|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:19882638|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21490317|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22253645|PMID:22507243|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24356988|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:27535533|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:28779239|PMID:28877545|PMID:29396561|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30369941|PMID:30476936|PMID:30611854|PMID:30931713|PMID:30945278|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31544778|PMID:31567646|PMID:31708864|PMID:31772215|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32407401|PMID:32487525|PMID:32509969|PMID:32593548|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33084218|PMID:33263785|PMID:33345742|PMID:33430134|PMID:33573884|PMID:33726816|PMID:33965302|PMID:34996390|PMID:35866763|PMID:35907044|PMID:36733446|PMID:36779057|PMID:36782059|PMID:36796140|PMID:37234784|PMID:38609989|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:8740371|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9001510	Funnel Chest		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9003126	Hallucinations		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9003507	Premature Birth		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9004296	Hypokalemic Periodic Paralysis, Type 1		ISO	RGD:732165	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokalemic periodic paralysis, type 1	PMID:10534266|PMID:10944223|PMID:11558801|PMID:11912116|PMID:12562902|PMID:1310898|PMID:14504341|PMID:15482957|PMID:15534250|PMID:15596759|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16832098|PMID:17330043|PMID:17591984|PMID:18046642|PMID:18166706|PMID:18317596|PMID:18824591|PMID:19118277|PMID:1918277|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301669|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22253645|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23801527|PMID:23958773|PMID:24549961|PMID:24714718|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26467025|PMID:26700687|PMID:26944947|PMID:27535533|PMID:28325641|PMID:28492532|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30611854|PMID:31068157|PMID:31772215|PMID:32066100|PMID:32407401|PMID:32509969|PMID:32593548|PMID:32660787|PMID:32849172|PMID:33084218|PMID:36733446|PMID:36779057|PMID:36796140|PMID:38609989|PMID:7473241|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7980103|PMID:8058156|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:9131651|PMID:9266738|PMID:9339683|PMID:9660885|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9004866	Ataxia		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9005077	Joint Instability		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:1310898|PMID:15596759|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18046642|PMID:18337100|PMID:18337730|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:20445432|PMID:20713951|PMID:22094069|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25088311|PMID:25311598|PMID:25741868|PMID:25839108|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28344441|PMID:28492532|PMID:31068157|PMID:31567646|PMID:31708864|PMID:32660787|PMID:32849172|PMID:33263785|PMID:33345742|PMID:33965302|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9005884	Potassium Aggravated Myotonia		ISO	RGD:732165	D	RGD:7240710	20180130	OMIM			
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9005884	Potassium Aggravated Myotonia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOTONIA CONGENITA, ATYPICAL | ClinVar Annotator: match by term: MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE | ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Myotonia permanens | ClinVar Annotator: match by term: Potassium-aggravated myotonia | ClinVar Annotator: match by term: SODIUM CHANNEL MUSCLE DISEASE	PMID:10534266|PMID:10682917|PMID:10944223|PMID:11558801|PMID:11744749|PMID:11912116|PMID:12562902|PMID:1310898|PMID:1316765|PMID:1338909|PMID:14504341|PMID:15037716|PMID:15389891|PMID:15482957|PMID:15534250|PMID:15596759|PMID:15774523|PMID:16392038|PMID:1659668|PMID:16624558|PMID:16786525|PMID:16832098|PMID:17330043|PMID:17591984|PMID:17823953|PMID:18046642|PMID:18162704|PMID:18166706|PMID:18317596|PMID:18337100|PMID:18337730|PMID:18414213|PMID:18824591|PMID:19052238|PMID:19065518|PMID:19118277|PMID:1918277|PMID:19201608|PMID:19225109|PMID:19290024|PMID:20076800|PMID:20301512|PMID:20301669|PMID:20445432|PMID:20522878|PMID:20660662|PMID:20713951|PMID:20981092|PMID:21189962|PMID:21220685|PMID:21387378|PMID:21404612|PMID:21665479|PMID:21665951|PMID:21708955|PMID:21841462|PMID:22094069|PMID:22253645|PMID:22507243|PMID:22759684|PMID:22926674|PMID:23019082|PMID:23052413|PMID:23516313|PMID:23771340|PMID:23801527|PMID:23810313|PMID:23884711|PMID:23958773|PMID:24356988|PMID:24549961|PMID:24682880|PMID:24714718|PMID:24778431|PMID:24943082|PMID:25024265|PMID:25088311|PMID:25213595|PMID:25311598|PMID:25348630|PMID:25741868|PMID:25755818|PMID:25839108|PMID:26036855|PMID:26080010|PMID:26252573|PMID:26423924|PMID:26427606|PMID:26467025|PMID:26700687|PMID:26885337|PMID:26944947|PMID:27415035|PMID:27535533|PMID:28024841|PMID:28150151|PMID:28325641|PMID:28330959|PMID:28344441|PMID:28492532|PMID:28779239|PMID:28877545|PMID:29396561|PMID:29419865|PMID:29605429|PMID:29606556|PMID:29774303|PMID:29930533|PMID:29991727|PMID:30369941|PMID:30476936|PMID:30611854|PMID:30931713|PMID:30945278|PMID:31068157|PMID:31127727|PMID:31407473|PMID:31544778|PMID:31567646|PMID:31708864|PMID:31772215|PMID:32066100|PMID:32129495|PMID:32355288|PMID:32407401|PMID:32487525|PMID:32509969|PMID:32593548|PMID:32594687|PMID:32660787|PMID:32670189|PMID:32849172|PMID:33084218|PMID:33263785|PMID:33345742|PMID:33430134|PMID:33573884|PMID:33726816|PMID:33965302|PMID:34749429|PMID:34996390|PMID:35907044|PMID:36733446|PMID:36779057|PMID:36782059|PMID:36796140|PMID:37234784|PMID:3822145|PMID:38609989|PMID:7473241|PMID:7676326|PMID:7689382|PMID:7695243|PMID:7767090|PMID:7809121|PMID:7965854|PMID:7980103|PMID:8005599|PMID:8044656|PMID:8058156|PMID:8110459|PMID:8242056|PMID:8308722|PMID:8382500|PMID:8385748|PMID:8740371|PMID:9131651|PMID:9266738|PMID:9336185|PMID:9339683|PMID:9618291|PMID:9660885|PMID:9771789|PMID:9886942
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:732165	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868|PMID:28492532|PMID:29605429|PMID:35027292
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9007141	Normokalemic Periodic Paralysis, Potassium-Sensitive		ISO	RGD:732165	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE | ClinVar Annotator: match by term: Normokalemic periodic paralysis, potassium-sensitive	PMID:15596759|PMID:18046642|PMID:19052238|PMID:19065518|PMID:19201608|PMID:19225109|PMID:22926674|PMID:23516313|PMID:24682880|PMID:25741868|PMID:25839108|PMID:26467025|PMID:28344441|PMID:28492532|PMID:29606556|PMID:31068157|PMID:31567646|PMID:31708864|PMID:32962503|PMID:33263785|PMID:33345742|PMID:33965302|PMID:38951973
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9007284	Precocious Puberty		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9008023	Memory Disorders		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9008421	Epistaxis		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9008993	Myotonia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9009021	Plagiocephaly		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:936	brain disease		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9409	diabetes insipidus		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:963	episodic ataxia		ISO	RGD:732165	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary episodic ataxia	PMID:25741868|PMID:28492532
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116347	SCN4A	sodium voltage-gated channel alpha subunit 4	gene	DOID:9834	hyperopia		ISO	RGD:732165	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:1310898|PMID:16392038|PMID:16786525|PMID:16832098|PMID:17823953|PMID:18337100|PMID:18337730|PMID:20445432|PMID:20713951|PMID:22094069|PMID:25088311|PMID:25311598|PMID:25741868|PMID:26080010|PMID:26467025|PMID:26885337|PMID:26944947|PMID:27415035|PMID:28150151|PMID:28492532|PMID:32660787|PMID:32849172|PMID:33263785|PMID:35907044|PMID:36796140|PMID:7473241|PMID:7980103|PMID:8044656|PMID:8308722
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:10534	stomach cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:1115	sarcoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4362	cervical cancer		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5041	esophageal cancer		ISO	RGD:1604711	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604711	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116388	SSC5D	scavenger receptor cysteine rich family member with 5 domains	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1617213	D	RGD:9068941	20220825	MouseDO			
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:0050737	autosomal recessive disease		ISO	RGD:1617213	D	RGD:9068941	20220825	MouseDO			
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:10534	stomach cancer		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:1240	leukemia		ISO	RGD:1347285	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19299014
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:3275	thymoma		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:4362	cervical cancer		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1347285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:630	genetic disease		ISO	RGD:1347285	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right ventricular hypertrophy	
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:9006177	ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES		ISO	RGD:1347285	D	RGD:7240710	20231108	OMIM			
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:9006177	ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES		ISO	RGD:1347285	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES | ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities | ClinVar Annotator: match by term: PPP1R13L-related disorder	PMID:25741868|PMID:28069640|PMID:32666529
12116407	PPP1R13L	protein phosphatase 1 regulatory subunit 13 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21325069
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation: :	PMID:20658957|REF_RGD_ID:11251750
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060058	lymphoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:9488045
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion (human)	PMID:20118908|REF_RGD_ID:8552306
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:hypermethylation	PMID:12547284|REF_RGD_ID:1600820
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24991542
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060221	Maffucci syndrome		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maffucci syndrome	PMID:25741868
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:16620915|REF_RGD_ID:8552304
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0080001	bone disease		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:30259626
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:21622646|REF_RGD_ID:11251772
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:mutation:cds:c.442C>T,p.A148T,rs3731249 (human)	PMID:26104880|REF_RGD_ID:11057958
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	treatment	ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:16618932|REF_RGD_ID:11251751
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0111511	melanoma and neural system tumor syndrome		ISO	RGD:737039	D	RGD:7240710	20220112	OMIM			
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:0111511	melanoma and neural system tumor syndrome		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma and neural system tumor syndrome	PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10874641|PMID:10892805|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11571653|PMID:11595726|PMID:11687599|PMID:11815963|PMID:12072543|PMID:12352668|PMID:12454511|PMID:12606942|PMID:12700603|PMID:1285398|PMID:14508519|PMID:14646620|PMID:15146471|PMID:15150307|PMID:15235029|PMID:15761864|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18803811|PMID:18983535|PMID:19260062|PMID:19331830|PMID:19500876|PMID:19571771|PMID:19799798|PMID:20340136|PMID:20340316|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21325014|PMID:21462282|PMID:21507037|PMID:21801156|PMID:21893440|PMID:22368299|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:24436120|PMID:24659262|PMID:24660985|PMID:25064638|PMID:25356972|PMID:25741868|PMID:25780468|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26223839|PMID:26467025|PMID:26542317|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26918361|PMID:27267843|PMID:27756164|PMID:27804060|PMID:27960642|PMID:28060055|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28765326|PMID:28830827|PMID:28979722|PMID:29091774|PMID:29316957|PMID:29464027|PMID:29506128|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30274933|PMID:30548481|PMID:30967399|PMID:31382929|PMID:31567591|PMID:31911633|PMID:32113160|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32980694|PMID:33134534|PMID:33322357|PMID:33436027|PMID:34067022|PMID:34308104|PMID:34369425|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:37422710|PMID:37611275|PMID:37762649|PMID:38147532|PMID:7647780|PMID:7718873|PMID:7796400|PMID:7987387|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8880901|PMID:9036865|PMID:9132280|PMID:9166859|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9516223|PMID:9536098|PMID:9699728|PMID:9751050|PMID:9823374|PMID:9856841
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10041	dysplastic nevus syndrome		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:missense mutation:exon:p.P48L (human)	PMID:10338331|REF_RGD_ID:8552302
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10283	prostate cancer		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation:promoter	PMID:16483154|REF_RGD_ID:2289685
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:prostate gland	PMID:16799475|REF_RGD_ID:2289684
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10534	stomach cancer		ISO	RGD:737039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:12454511|PMID:15146471|PMID:16905682|PMID:18983535|PMID:25356972|PMID:25741868|PMID:25877891|PMID:28492532|PMID:35101336|PMID:36988593|PMID:8668202
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10763	hypertension		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		protein:increased expression:kidney	PMID:18504326|REF_RGD_ID:2316082
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:10763	hypertension		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:kidney	PMID:18504326|REF_RGD_ID:2316082
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737039	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12973940|PMID:15987713
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737039	D	RGD:9068941	20260813	RGD		DNA:deletion	PMID:15897688|REF_RGD_ID:2289687
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737039	D	RGD:9068941	20260813	RGD		DNA:hypermethylation:promoter	PMID:17119258|REF_RGD_ID:2296052
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737039	D	RGD:9068941	20260813	RGD		protein:increased expression:urinary bladder	PMID:18234280|REF_RGD_ID:2296048
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Cervical Intraepithelial Neoplasms;protein:increased expression:uterine cervix	PMID:16415792|REF_RGD_ID:2296057
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Cervix Neoplasms;protein:increased expression:uterine cervix	PMID:16406113|REF_RGD_ID:2296058
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:11830	myopia		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10070944|PMID:12072543|PMID:12417717|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17218939|PMID:21462282|PMID:25741868|PMID:28492532|PMID:29091774|PMID:7777061|PMID:9416844|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1240	leukemia		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation	PMID:8631003|REF_RGD_ID:8548743
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1380	endometrial cancer		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:deletions:exon (rat)	PMID:18558284|REF_RGD_ID:2316081
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10491434|PMID:10498896|PMID:10892805|PMID:11687599|PMID:12454511|PMID:14722037|PMID:15146471|PMID:16818274|PMID:16905682|PMID:17055252|PMID:18205010|PMID:18519632|PMID:18803811|PMID:18983535|PMID:19799798|PMID:21412928|PMID:21462282|PMID:22841127|PMID:24436047|PMID:25356972|PMID:25741868|PMID:25877891|PMID:26138366|PMID:26681309|PMID:27083775|PMID:27756164|PMID:27960642|PMID:27993330|PMID:28060055|PMID:28492532|PMID:28765326|PMID:28830827|PMID:29091774|PMID:29533785|PMID:29915805|PMID:31382929|PMID:31980996|PMID:33945383|PMID:34099663|PMID:34166060|PMID:35001868|PMID:35101336|PMID:38234851|PMID:7718873|PMID:7777061|PMID:7987387|PMID:8668202|PMID:8703847|PMID:9053859|PMID:9166859|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1612	breast cancer		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: lobular breast cancer	PMID:26845104
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:insertion:cds:p.R112_L113insR (human)	PMID:10922411|REF_RGD_ID:8552383
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1686	glaucoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21532571
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:10322	D	RGD:9068941	20220114	RGD		DNA:transitions: :multiple	PMID:15057871|REF_RGD_ID:8552295
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737039	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223589|PMID:21526190|PMID:29112861|PMID:37441092
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1793	pancreatic cancer		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:10627132|PMID:26098869
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1793	pancreatic cancer		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1909	melanoma		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CDKN2A-related disorder | ClinVar Annotator: match by term: Melanoma	PMID:10389768|PMID:10390011|PMID:10667595|PMID:10719365|PMID:11518711|PMID:11571653|PMID:11595726|PMID:11687599|PMID:12454511|PMID:14722037|PMID:15075790|PMID:15146471|PMID:15856016|PMID:16234564|PMID:16307646|PMID:16818274|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17171691|PMID:17218939|PMID:17440112|PMID:17576681|PMID:18335566|PMID:18519632|PMID:18983535|PMID:19260062|PMID:19799798|PMID:20340136|PMID:21085193|PMID:21462282|PMID:21507037|PMID:21801156|PMID:22368299|PMID:22440936|PMID:22841127|PMID:24728327|PMID:24733792|PMID:25078331|PMID:25318351|PMID:25356972|PMID:25741868|PMID:25877891|PMID:25980754|PMID:26467025|PMID:26670561|PMID:26681309|PMID:27083775|PMID:27473757|PMID:27756164|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28410231|PMID:28454591|PMID:28492532|PMID:28640387|PMID:28765326|PMID:28830827|PMID:29615459|PMID:30207590|PMID:30306255|PMID:30339520|PMID:31567591|PMID:31921681|PMID:32191290|PMID:32482799|PMID:33322357|PMID:33823155|PMID:34067022|PMID:34301788|PMID:34308104|PMID:35001868|PMID:35101336|PMID:36315513|PMID:37057674|PMID:37506692|PMID:37568588|PMID:37586297|PMID:38093606|PMID:38634053|PMID:38667326|PMID:39513960|PMID:39778127|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7987387|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8710906|PMID:9053859|PMID:9166859|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9516223|PMID:9536098|PMID:9699728|PMID:9823374|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1909	melanoma	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:point mutation, insertion:exon	PMID:9168184|REF_RGD_ID:1600812
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:1967	leiomyosarcoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Myometrial Neoplasms;protein:increased expression:myometrium	PMID:18156978|REF_RGD_ID:2296049
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:2154	nephroblastoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:kidney	PMID:17369505|REF_RGD_ID:2289679
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:219	colon cancer		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10070944|PMID:12072543|PMID:12417717|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17218939|PMID:21462282|PMID:25741868|PMID:28492532|PMID:29091774|PMID:7777061|PMID:9416844|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:224	transient cerebral ischemia		ISO	RGD:10322	D	RGD:9068941	20220114	RGD		protein:decreased expression:striatum, neuron	PMID:11438580|REF_RGD_ID:8552691
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:737039	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:16818274|PMID:17047042|PMID:18519632|PMID:19260062|PMID:20340316|PMID:21462282|PMID:22841127|PMID:24660985|PMID:25741868|PMID:26104880|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28765326|PMID:30443844|PMID:30548481|PMID:35001868|PMID:35171259|PMID:36243179|PMID:7718873|PMID:9166859|PMID:9425228
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation:promoter	PMID:16316628|REF_RGD_ID:2289686
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:299	adenocarcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:20135361
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:2999	granulosa cell tumor		ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:12203782|REF_RGD_ID:2296066
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation:promoter:breast, serum	PMID:17383681|REF_RGD_ID:2289677
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:15705881|PMID:16614725|PMID:20340136|PMID:21462282|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8603820
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:10720483|REF_RGD_ID:8552659
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3070	high grade glioma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814359|PMID:19578367
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletions	PMID:11314047|REF_RGD_ID:8552305
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737039	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35303175
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3087	gingivitis		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:10070944|PMID:12072543|PMID:12417717|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17218939|PMID:21462282|PMID:25741868|PMID:28492532|PMID:29091774|PMID:7777061|PMID:9416844|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3192	neurilemmoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA,protein:deletion,decreased expression: :	PMID:10595918|REF_RGD_ID:1358481
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:10491434|PMID:10498896|PMID:10892805|PMID:18803811|PMID:21412928|PMID:21462282|PMID:22841127|PMID:24436047|PMID:25741868|PMID:26138366|PMID:26349418|PMID:27993330|PMID:28060055|PMID:28492532|PMID:29091774|PMID:31980996|PMID:33945383|PMID:34099663|PMID:34166060|PMID:35001868|PMID:35101336|PMID:35705560|PMID:7777061|PMID:8703847|PMID:9660926|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA, mRNA:hypermethylation, decreased expression:promoter, skeletal muscle	PMID:21565688|REF_RGD_ID:8552662
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3275	thymoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3304	germinoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:transition:exon:142G>A	PMID:9554401|REF_RGD_ID:2289698
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24986516
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:737039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:737039	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach | ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:10491434|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:18573309|PMID:21462282|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28492532|PMID:28830827|PMID:29983899|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8723678|PMID:9324288|PMID:9536098|PMID:9751050|PMID:9823374
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3721	plasmacytoma		ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:11113205|REF_RGD_ID:11251742
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma	PMID:10498896|PMID:15235029|PMID:15860862|PMID:16354195|PMID:16818274|PMID:16905682|PMID:18024887|PMID:18519632|PMID:21325014|PMID:21462282|PMID:22368299|PMID:22841127|PMID:24659262|PMID:25356972|PMID:25741868|PMID:25780468|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28592523|PMID:28765326|PMID:35001868|PMID:35101336|PMID:36139606|PMID:7718873|PMID:8552400|PMID:8573142|PMID:9053859|PMID:9166859|PMID:9660926
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602|PMID:19375815
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	PMID:22733721|PMID:24747642|PMID:25078331|PMID:27165744|PMID:27993330|PMID:34410225
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4051	alveolar rhabdomyosarcoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alveolar rhabdomyosarcoma	PMID:10491434|PMID:10498896|PMID:10892805|PMID:18803811|PMID:21412928|PMID:21462282|PMID:22841127|PMID:24436047|PMID:25741868|PMID:26138366|PMID:27993330|PMID:28060055|PMID:28492532|PMID:29091774|PMID:31980996|PMID:33945383|PMID:34099663|PMID:34166060|PMID:35001868|PMID:35101336|PMID:7777061|PMID:8703847|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:12454511|PMID:15146471|PMID:16905682|PMID:18983535|PMID:25356972|PMID:25741868|PMID:25877891|PMID:28492532|PMID:35101336|PMID:8668202
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4450	renal cell carcinoma		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:gene instability	PMID:11839561|REF_RGD_ID:1298747
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA, protein:hypermethylation, increased expression:promoter, kidney	PMID:15232742|REF_RGD_ID:2289699
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion	PMID:17201148|REF_RGD_ID:2289680
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4488	sarcomatoid mesothelioma		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:deletion	PMID:20065947|REF_RGD_ID:7248760
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4586	familial meningioma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma	PMID:10874641|PMID:12352668|PMID:15860862|PMID:18023021|PMID:19260062|PMID:21462282|PMID:21801156|PMID:23190892|PMID:25741868|PMID:25780468|PMID:26650572|PMID:26681309|PMID:28492532|PMID:29774366|PMID:31567591|PMID:7647780|PMID:7987387|PMID:8603820
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4905	pancreatic carcinoma	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:insertion:cds:p.R112_L113insR (human)	PMID:10922411|REF_RGD_ID:8552383
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:4947	cholangiocarcinoma	onset	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:decreased expression:liver	PMID:15619210|REF_RGD_ID:2317417
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:14508519|PMID:15146471|PMID:16374456|PMID:16818274|PMID:16905682|PMID:18205010|PMID:18519632|PMID:18573309|PMID:21462282|PMID:21801156|PMID:25356972|PMID:25741868|PMID:26681309|PMID:26775776|PMID:27756164|PMID:27960642|PMID:28492532|PMID:28765326|PMID:28830827|PMID:29464027|PMID:29915805|PMID:29983899|PMID:31382929|PMID:32455486|PMID:35001868|PMID:35101336|PMID:7718873|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:9053859|PMID:9166859|PMID:9751050|PMID:9823374
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5520	head and neck squamous cell carcinoma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:SNPs: :rs3731217, rs3088440 (human)	PMID:21381012|REF_RGD_ID:8552291
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:19759355|PMID:23178376|REF_RGD_ID:11251744|REF_RGD_ID:11251774
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:17507663|REF_RGD_ID:11251765
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion, missense, nonsense mutations:cds:	PMID:8637233|REF_RGD_ID:11251776
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:5603	T-cell acute lymphoblastic leukemia	disease_progression	ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:16407836|REF_RGD_ID:11251741
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:574	peripheral nervous system disease		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:23872714
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6171	uterine carcinosarcoma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:16803529|REF_RGD_ID:2296053
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2323	D	RGD:9068941	20260521	RGD		DNA:hypermethylation:exon	PMID:11301474|REF_RGD_ID:8552680
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2323	D	RGD:9068941	20260521	RGD		DNA:hypermethylation:promoter	PMID:12359353|REF_RGD_ID:1600822
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2323	D	RGD:9068941	20260521	RGD		Protein:increased expression:liver	PMID:16317707|REF_RGD_ID:1600816
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737039	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:25822088|PMID:28284560|PMID:33010264
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		Protein:decreased expression:liver	PMID:16317707|REF_RGD_ID:1600816
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:7240710	20220112	OMIM			
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30086788|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 5 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25326637|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27352967
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cutaneous Malignant Melanoma, Dominant | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:34573422|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:34573422|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31468114|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:35001868|PMID:35264596|PMID:35446184|PMID:36315513|PMID:36969747|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36315513|PMID:36969747|PMID:36988593|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37557112|PMID:37611275|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37557112|PMID:37611275|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2	PMID:27045317|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37557112|PMID:37611275|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 6 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3	PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37557112|PMID:37611275|PMID:37762649|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27074266
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37557112|PMID:37611275|PMID:37762649|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:1926006210390011|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:5001868|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cutaneous malignant melanoma 9 | ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 6 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:6307646|PMID:649266|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 9	PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37568588|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11136714|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26542317|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31001908|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36628896|PMID:36969747|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:6307646|PMID:7566978|PMID:7614482|PMID:7624155|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10400925|PMID:10491434|PMID:10498896|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11136714|PMID:11156381|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12549483|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:1285398|PMID:12853981|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14745721|PMID:15009729|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15304098|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16470311|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17370310|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21507037|PMID:21610656|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22364812|PMID:22368299|PMID:22636603|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:24012370|PMID:24163379|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24737347|PMID:25023876|PMID:25064638|PMID:25186627|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26138366|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26489725|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26892650|PMID:26907448|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27473757|PMID:27519597|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27993330|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28866070|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30218143|PMID:30274933|PMID:30443844|PMID:30548481|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31775759|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32941720|PMID:32980694|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34573422|PMID:34664323|PMID:34773670|PMID:35001868|PMID:35029067|PMID:35101336
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 10 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36628896|PMID:37322831|PMID:37422710|PMID:37557112|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:38147532|PMID:38355628|PMID:38961426|PMID:539244|PMID:6307646|PMID:7566978|PMID:7624155|PMID:7647780|PMID:7670475|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7923152|PMID:7987387|PMID:7987388|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8521414|PMID:8552400|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8653684|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9324288|PMID:9326917|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10070944|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11136714|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:1285398|PMID:12853981|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14745721|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15304098|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16470311|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17370310|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21507037|PMID:21610656|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22364812|PMID:22368299|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:24012370|PMID:24163379|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24737347|PMID:25023876|PMID:25064638|PMID:25186627|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26138366|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26489725|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26892650|PMID:26907448|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27473757|PMID:27519597|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27993330|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28866070|PMID:28979722|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30218143|PMID:30274933|PMID:30443844|PMID:30548481|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32941720|PMID:32980694|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34573422|PMID:34664323|PMID:34773670|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36628896|PMID:37322831
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:37422710|PMID:37557112|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:38147532|PMID:38355628|PMID:38961426|PMID:539244|PMID:6307646|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:7987388|PMID:8023167|PMID:8060323|PMID:8521414|PMID:8552400|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9324288|PMID:9326917|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:10070944|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11136714|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:1285398|PMID:12853981|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15075790|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17370310|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21507037|PMID:21526190|PMID:21610656|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22703879|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25186627|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26138366|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26892650|PMID:26907448|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27473757|PMID:27519597|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27993330|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28592523|PMID:28640387|PMID:28717660|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28866070|PMID:28979722|PMID:28982163|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29615459|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA AND RENAL CELL CARCINOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:33823155|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34301788|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34573422|PMID:34664323|PMID:34773670|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35705558|PMID:35705560|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36628896|PMID:37057674|PMID:37322831|PMID:37422710|PMID:37506692|PMID:37557112|PMID:37568588|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38093606|PMID:38147532|PMID:38355628|PMID:38634053|PMID:38667326|PMID:38961426|PMID:39513960|PMID:39778127|PMID:539244|PMID:6307646|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:7987388|PMID:8023167|PMID:8060323|PMID:8521414|PMID:8552400|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9324288|PMID:9326917|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:10070944|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11136714|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12614625|PMID:12700603|PMID:1285398|PMID:12853981|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14745721|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16032697|PMID:16169933|PMID:16171945|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16470311|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17001621|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17370310|PMID:17440112|PMID:17492760|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18612309|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19260067|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21507037|PMID:21526190|PMID:21610656|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22364812|PMID:22368299|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:24012370|PMID:24163379|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24737347|PMID:25023876|PMID:25064638|PMID:25186627|PMID:25294512|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26138366|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26489725|PMID:26542317|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26892650|PMID:26907448|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27473757|PMID:27519597|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28866070|PMID:28979722|PMID:28982163|PMID:29036293|PMID:29091774|PMID:29110408|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30218143|PMID:30274933|PMID:30443844|PMID:30548481|PMID:30967399|PMID:31001908|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34573422|PMID:34664323|PMID:34773670|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35705558|PMID:35705560|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:36628896|PMID:37322831
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:6846	familial melanoma		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial melanoma | ClinVar Annotator: match by term: Hereditary cutaneous melanoma | ClinVar Annotator: match by term: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 2 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 3 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5 | ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 8	PMID:37422710|PMID:37557112|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:38147532|PMID:38355628|PMID:38961426|PMID:539244|PMID:6307646|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:7987388|PMID:8023167|PMID:8060323|PMID:8521414|PMID:8552400|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9324288|PMID:9326917|PMID:9328469|PMID:9366518|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9622062|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:768	retinoblastoma		ISO	RGD:737039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinoblastoma	PMID:25741868|PMID:28492532
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:769	neuroblastoma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814359
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:769	neuroblastoma	treatment	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:24714808|REF_RGD_ID:10043806
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:7998	hyperthyroidism		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:10070944|PMID:12072543|PMID:12417717|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17218939|PMID:21462282|PMID:25741868|PMID:28492532|PMID:29091774|PMID:7777061|PMID:9416844|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:824	periodontitis		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:10070944|PMID:12072543|PMID:12417717|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17218939|PMID:21462282|PMID:25741868|PMID:28492532|PMID:29091774|PMID:7777061|PMID:9416844|PMID:9751050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:2323	D	RGD:9068941	20220114	RGD			PMID:24009074|REF_RGD_ID:10043190
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8541	Sezary's disease		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551670
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:16533530|REF_RGD_ID:11251777
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8719	in situ carcinoma		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Bladder Neoplasms;protein:increased expression:urinary bladder	PMID:18234280|REF_RGD_ID:2296048
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8923	skin melanoma		ISO	RGD:737039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29983899|PMID:30291219|PMID:30742731|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8923	skin melanoma		ISO	RGD:737039	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma	PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:12606942|PMID:14508519|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29464027|PMID:29983899|PMID:30291219|PMID:30742731|PMID:32455486|PMID:35001868|PMID:7777060|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9053859|PMID:9324288|PMID:9328469|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8923	skin melanoma		ISO	RGD:737039	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma	PMID:10491434|PMID:11078762|PMID:11358797|PMID:11477665|PMID:11500805|PMID:11687599|PMID:12072543|PMID:14508519|PMID:15140233|PMID:15146471|PMID:16234564|PMID:16896043|PMID:16905682|PMID:17576681|PMID:17992122|PMID:18573309|PMID:20505745|PMID:21462282|PMID:21507037|PMID:24336570|PMID:25157968|PMID:25356972|PMID:25741868|PMID:26619011|PMID:26681309|PMID:26775776|PMID:28146043|PMID:28492532|PMID:28830827|PMID:29464027|PMID:29983899|PMID:30291219|PMID:30742731|PMID:32455486|PMID:35001868|PMID:7777061|PMID:7780957|PMID:8521414|PMID:8573142|PMID:8595405|PMID:8668202|PMID:8723678|PMID:8755727|PMID:8834170|PMID:9324288|PMID:9536098|PMID:9660926|PMID:9710613|PMID:9751050|PMID:9823374|PMID:9856841
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation	PMID:16778587|REF_RGD_ID:2296054
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression	PMID:17910346|REF_RGD_ID:2289675
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:uterine cervix	PMID:17415114|REF_RGD_ID:2289676
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:uterine cervix	PMID:16406113|REF_RGD_ID:2296058
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000046	Poisoning		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:20044985
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:29426936
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		Protein:decreased expression:esophagus	PMID:10969811|REF_RGD_ID:1600828
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:18410530
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747643
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000392	Fluoride Poisoning		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:30259626
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Testicular Neoplasms;DNA:missense mutation, deletion, polymorphism:cds, intron:p.A140T	PMID:9554401|REF_RGD_ID:2289698
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000555	Vulvar Lichen Sclerosus		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:17300232
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Paraganglioma, Extra-Adrenal;DNA:hypermethylation	PMID:18509008|REF_RGD_ID:8552280
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002221	Hyperplasia	treatment	ISO	RGD:2323	D	RGD:9068941	20220114	RGD			PMID:23427405|REF_RGD_ID:8552677
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:loss of heterozygosity	PMID:11037653|REF_RGD_ID:2289689
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:kidney	PMID:17369505|REF_RGD_ID:2289679
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:10322	D	RGD:9068941	20220114	RGD		DNA, mRNA, protein:hypermethylation, increased expression:exon, prostate	PMID:17178860|REF_RGD_ID:2289681
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:10395320|REF_RGD_ID:8552686
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002644	Premature Aging		ISO	RGD:10322	D	RGD:9068941	20220114	RGD		protein:increased expression:skin	PMID:21108731|REF_RGD_ID:10043189
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002644	Premature Aging	treatment	ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:23207764|REF_RGD_ID:10043192
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737039	D	RGD:9068941	20260709	RGD		DNA:hypermethylation:promoter	PMID:16773633|REF_RGD_ID:2296056
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:17242700|REF_RGD_ID:2296051
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:17493241|REF_RGD_ID:2296050
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002777	Brain Stem Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24098593
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		mRNA, Protein:decreased expression:colon	PMID:12189186|REF_RGD_ID:1600823
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:17369842|REF_RGD_ID:2289678
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:uterine cervix	PMID:17415114|REF_RGD_ID:2289676
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:uterine cervix	PMID:16415792|REF_RGD_ID:2296057
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003566	Mesothelioma		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:deletion	PMID:20065947|REF_RGD_ID:7248760
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003566	Mesothelioma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:18379362
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9003960	Trisomy		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21526190
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:15705881|PMID:16614725|PMID:20340136|PMID:21462282|PMID:25741868|PMID:26467025|PMID:28492532|PMID:8603820
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:25240281
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9004441	Experimental Leukemia		ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:10090949|REF_RGD_ID:11251764
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24495407
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005006	Melanoma-Pancreatic Cancer Syndrome		ISO	RGD:737039	D	RGD:7240710	20220112	OMIM			
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005006	Melanoma-Pancreatic Cancer Syndrome		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MELANOMA-PANCREATIC CANCER SYNDROME | ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome | ClinVar Annotator: match by term: melanoma-pancreatic cancer syndrome	PMID:10338331|PMID:10389768|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10874641|PMID:10892805|PMID:10956390|PMID:109563903|PMID:11360201|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11815963|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12700603|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17440112|PMID:17492760|PMID:18023021|PMID:18024887|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18803811|PMID:18813118|PMID:18981015|PMID:18983535|PMID:19141585|PMID:19260062|PMID:19331830|PMID:19360740|PMID:19500876|PMID:19571771|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21150883|PMID:21412928|PMID:21462282|PMID:21614589|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22368299|PMID:22561520|PMID:22636603|PMID:22804906|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23897584|PMID:24436047|PMID:24436120|PMID:24659262|PMID:24660985|PMID:24728327|PMID:25064638|PMID:25149524|PMID:25227142|PMID:25318351|PMID:25356972|PMID:25370744|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25803691|PMID:25877891|PMID:26104880|PMID:26138366|PMID:26467025|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26681309|PMID:26775776|PMID:27077911|PMID:27083775|PMID:27267843|PMID:27473757|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28188106|PMID:28410231|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28866070|PMID:28873162|PMID:28979722|PMID:29091774|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30274933|PMID:30548481|PMID:30967399|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32455486|PMID:32482799|PMID:32941720|PMID:32980694|PMID:32989607|PMID:33134534|PMID:33322357|PMID:33436027|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34308366|PMID:34369425|PMID:35001868|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:37422710|PMID:37568588|PMID:37611275|PMID:37762649|PMID:38147532|PMID:7640518|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7923152|PMID:7987387|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8841025|PMID:8880901|PMID:9036865|PMID:9053859|PMID:9166859|PMID:9168184|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:945228|PMID:9473234|PMID:9516223|PMID:9660926|PMID:9699728|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:hypermethylation:promoter	PMID:11872642|PMID:19409458|REF_RGD_ID:1298567|REF_RGD_ID:7248761
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:11872642|PMID:12115568|PMID:18337602|PMID:20135361
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD			PMID:20681787|REF_RGD_ID:8552689
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:10322	D	RGD:9068941	20220114	RGD			PMID:18060046|REF_RGD_ID:2289674
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		associated with Papillomavirus Infections;protein:increased expression:vulva	PMID:18192968|REF_RGD_ID:2289673
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:vulva	PMID:16998595|REF_RGD_ID:2289682
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:loss of heterozygosity	PMID:16527513|REF_RGD_ID:1578522
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2323	D	RGD:9068941	20220114	RGD		DNA:point mutations, missense mutation:exon	PMID:17091472|REF_RGD_ID:1600814
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005873	Tongue Neoplasms	severity	ISO	RGD:2323	D	RGD:9068941	20220114	RGD		protein:decreased expression:tongue	PMID:18804414|REF_RGD_ID:11252155
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9005883	Pleural Effusion		ISO	RGD:737039	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:37441092
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:26410583
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14508519|PMID:14584079|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15304098|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15945100|PMID:16169933|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21614589|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23757202|PMID:23897584|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28944238|PMID:28979722|PMID:29091774|PMID:29263814|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29758216|PMID:29774366|PMID:29922827|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31382929|PMID:31775759|PMID:31921681|PMID:32113160|PMID:32191290|PMID:33309985|PMID:33322357|PMID:33823155|PMID:33945383|PMID:35001868|PMID:7566978|PMID:7569991|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10070944|PMID:10229204|PMID:10338331|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12118338|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12673200|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14584079|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26557774|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069952|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28166811|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30093976|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:34573422|PMID:35001868|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31468114|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:32113160|PMID:32191290|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:35001868|PMID:35264596|PMID:35446184|PMID:36315513|PMID:36969747|PMID:36988593|PMID:5001868|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21609436|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26619011|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26976419|PMID:27045317|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36315513|PMID:36969747|PMID:36988593|PMID:5001868|PMID:539244|PMID:649266|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777060|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26918361|PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37557112|PMID:37611275|PMID:37762649|PMID:5001868|PMID:539244|PMID:649266|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16397522|PMID:16470311|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18337833|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26918361|PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:5001868|PMID:539244|PMID:649266|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:5001868|PMID:539244|PMID:649266|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332|PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28528518|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:36988593|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:649266|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10229204|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10508477|PMID:10620111|PMID:10627132|PMID:10667595|PMID:10719365|PMID:10854221|PMID:10861313|PMID:10869234|PMID:10871849|PMID:10874641|PMID:10892805|PMID:10922411|PMID:10951521|PMID:10956390|PMID:109563903|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11113205|PMID:11156381|PMID:11319798|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11506491|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11726555|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12019208|PMID:12072543|PMID:12175554|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12485439|PMID:12517341|PMID:12532425|PMID:12538475|PMID:12556369|PMID:12606942|PMID:12700603|PMID:12853981|PMID:12894891|PMID:12920094|PMID:12950144|PMID:14506702|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14679123|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15009729|PMID:15075790|PMID:15122588|PMID:15140233|PMID:15140239|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15298727|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:15863662|PMID:15937071|PMID:15945100|PMID:16169933|PMID:16171945|PMID:16172233|PMID:16199547|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16374456|PMID:16470311|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17370310|PMID:17397031|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17624602|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18178632|PMID:18205010|PMID:18257688|PMID:18299477|PMID:18335566|PMID:18363633|PMID:18445952|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18813118|PMID:18843795|PMID:18951449|PMID:18981015|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19484507|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19725989|PMID:19741424|PMID:19759551|PMID:19799798|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20526219|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21610656|PMID:21614589|PMID:21619050|PMID:21672182|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22292911|PMID:22364812|PMID:22368299|PMID:22440936|PMID:22447455|PMID:22561520|PMID:22636603|PMID:22703879|PMID:22804906|PMID:22841127|PMID:22911296|PMID:22995991|PMID:23187834|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:23687186|PMID:23757202|PMID:23897584|PMID:24012370|PMID:24033266|PMID:24163379|PMID:24185512|PMID:24336570|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:24737347|PMID:24935963|PMID:25023876|PMID:25064638|PMID:25078331|PMID:25149524|PMID:25157968|PMID:25186627|PMID:25227142|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25787093|PMID:25803691|PMID:25813228|PMID:25846456|PMID:25877891|PMID:25980754|PMID:26062399|PMID:26104880|PMID:26205736|PMID:26206375|PMID:26223839|PMID:26225579|PMID:26295973|PMID:26333485|PMID:26381259|PMID:26467025|PMID:26474073|PMID:26483394|PMID:26489725|PMID:26542317|PMID:26601054|PMID:26650189|PMID:26650572|PMID:26658419|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26827760|PMID:26845104|PMID:26876133|PMID:26892650|PMID:26907448|PMID:26918361|PMID:26976419|PMID:27045317|PMID:27074266|PMID:27077911|PMID:27083775|PMID:27095739|PMID:27181379|PMID:27267843|PMID:27287845|PMID:27443514|PMID:27473757|PMID:27519597|PMID:27568332
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27621404|PMID:27626068|PMID:27701467|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28120917|PMID:2813514|PMID:28135145|PMID:28146043|PMID:28188106|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28492532|PMID:28521409|PMID:28592523|PMID:28599463|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28818438|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28944238|PMID:28979722|PMID:29091774|PMID:29110408|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29541281|PMID:29543703|PMID:29641532|PMID:29642553|PMID:29661971|PMID:29684080|PMID:29700634|PMID:29758216|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29945567|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30039340|PMID:30093976|PMID:30113427|PMID:30207590|PMID:30218143|PMID:30274933|PMID:30291219|PMID:30303537|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30709382|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31169336|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31468114|PMID:31517177|PMID:31567591|PMID:31721094|PMID:31775759|PMID:31856090|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32655615|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32957588|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33753322|PMID:33766116|PMID:33823155|PMID:33939675|PMID:33945383|PMID:34028844|PMID:34067022|PMID:34069252|PMID:34069952|PMID:34099663|PMID:34308104|PMID:34326862|PMID:34369425|PMID:34426522|PMID:34573422|PMID:34646395|PMID:34664323|PMID:35001868|PMID:35029067|PMID:35171259|PMID:35264596|PMID:35446184|PMID:35566480|PMID:35777164|PMID:36139606|PMID:36243179|PMID:36315513|PMID:36969747|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37557112|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:38961426|PMID:539244|PMID:7566978|PMID:7614482|PMID:7632931|PMID:7640518|PMID:7647780|PMID:7666917|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7882348|PMID:7923152|PMID:7970734|PMID:7972006|PMID:7987387|PMID:7987388|PMID:8012957|PMID:8023167|PMID:8060323|PMID:8153634|PMID:8213823|PMID:8521414|PMID:8552158|PMID:8552400|PMID:8561866|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8595411|PMID:8603820|PMID:8631588|PMID:865368|PMID:8653684|PMID:8668202|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9049826|PMID:9053859|PMID:9132280|PMID:9133447|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9212218|PMID:9324288|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:9439668|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856796|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10874641|PMID:10892805|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12700603|PMID:1285398|PMID:12920094|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15761864|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16608795|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18205010|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22368299|PMID:22804906|PMID:22817889|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:24163379|PMID:24336570|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:25023876|PMID:25064638|PMID:25157968|PMID:25268584|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26138366|PMID:26205736|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26907448|PMID:27083775|PMID:27267843|PMID:27287845|PMID:27473757|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28467829|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28979722|PMID:29091774|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30274933|PMID:30291219|PMID:30306255|PMID:30443844|PMID:30548481|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31775759|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33766116|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34369425|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:37766469|PMID:38147532|PMID:7566978
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7881419|PMID:7923152|PMID:7987387|PMID:8023167|PMID:8153634|PMID:8570179|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8653684|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8727306|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9603434|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10738302|PMID:10854221|PMID:10861313|PMID:10874641|PMID:10892805|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12700603|PMID:1285398|PMID:12920094|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15761864|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16608795|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17713569|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18025365|PMID:18205010|PMID:18337833|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19500876|PMID:19523171|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22368299|PMID:22804906|PMID:22817889|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:24163379|PMID:24336570|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:25023876|PMID:25064638|PMID:25157968|PMID:25268584|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26138366|PMID:26205736|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26907448|PMID:27083775|PMID:27267843|PMID:27287845|PMID:27473757|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28467829|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28979722|PMID:29091774|PMID:29110637|PMID:29263814|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30274933|PMID:30291219|PMID:30306255|PMID:30443844|PMID:30548481|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33766116|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34369425|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:37766469|PMID:38147532|PMID:7566978|PMID:7647780
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:8023167|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9916806|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10854221|PMID:10861313|PMID:10874641|PMID:10892805|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12700603|PMID:1285398|PMID:12920094|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15075790|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16397522|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18178632|PMID:18205010|PMID:18335566|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19500876|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20093296|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22292911|PMID:22368299|PMID:22440936|PMID:22703879|PMID:22804906|PMID:22817889|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:24033266|PMID:24163379|PMID:24336570|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:24733792|PMID:25064638|PMID:25078331|PMID:25157968|PMID:25186627|PMID:25268584|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25479140|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26138366|PMID:26205736|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26498684|PMID:26542317|PMID:26581427|PMID:26650189|PMID:26650572|PMID:26670561|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26907448|PMID:27083775|PMID:27267843|PMID:27287845|PMID:27473757|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28454591|PMID:28467829|PMID:28492532|PMID:28592523|PMID:28640387|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28979722|PMID:29091774|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29615459|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30207590|PMID:30274933|PMID:30291219|PMID:30306255|PMID:30339520|PMID:30443844|PMID:30548481|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31921681|PMID:31980996|PMID:32113160|PMID:32191290|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33766116|PMID:33823155|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34301788|PMID:34308104|PMID:34369425|PMID:35001868|PMID:35029067|PMID:35101336
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:37057674|PMID:37322831|PMID:37422710|PMID:37506692|PMID:37536918|PMID:37568588|PMID:37585199|PMID:37586297|PMID:37611275|PMID:37762649|PMID:37766469|PMID:38093606|PMID:38147532|PMID:38634053|PMID:38667326|PMID:39513960|PMID:39778127|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:8023167|PMID:8573142|PMID:8595405|PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10070944|PMID:10338331|PMID:10360174|PMID:1038976|PMID:10389768|PMID:10390011|PMID:10398427|PMID:10491434|PMID:10498896|PMID:10667595|PMID:10719365|PMID:10854221|PMID:10861313|PMID:10874641|PMID:10892805|PMID:11008905|PMID:11058911|PMID:11075991|PMID:11078762|PMID:11358797|PMID:11360201|PMID:11433531|PMID:11477665|PMID:11500805|PMID:11511321|PMID:11518711|PMID:11556834|PMID:11571653|PMID:11579459|PMID:11595726|PMID:11687599|PMID:11807902|PMID:11815963|PMID:12001124|PMID:12072543|PMID:12352668|PMID:12417040|PMID:12417717|PMID:12454511|PMID:12461329|PMID:12556369|PMID:12606942|PMID:12700603|PMID:1285398|PMID:12920094|PMID:14508519|PMID:14646619|PMID:14646620|PMID:14722037|PMID:14735200|PMID:14745721|PMID:15140233|PMID:15146471|PMID:15150307|PMID:15173226|PMID:15235029|PMID:15705881|PMID:15761864|PMID:15856016|PMID:15860862|PMID:16169933|PMID:16171945|PMID:16214921|PMID:16234564|PMID:16307646|PMID:16354195|PMID:16608795|PMID:16614725|PMID:16818274|PMID:16893909|PMID:16896043|PMID:16905682|PMID:17047042|PMID:17055252|PMID:17167857|PMID:17171691|PMID:17218939|PMID:17255954|PMID:17276542|PMID:17340131|PMID:17440112|PMID:17492760|PMID:17495976|PMID:17576681|PMID:17625456|PMID:17890059|PMID:17909018|PMID:17992122|PMID:18023021|PMID:18024887|PMID:18205010|PMID:18363633|PMID:18519632|PMID:18538737|PMID:18573309|PMID:18714178|PMID:18803811|PMID:18843795|PMID:18951449|PMID:18983535|PMID:19043591|PMID:19141585|PMID:19158841|PMID:19260062|PMID:19320745|PMID:19331830|PMID:19360740|PMID:19500876|PMID:19571771|PMID:19690981|PMID:19712690|PMID:19759551|PMID:19799798|PMID:20132244|PMID:203|PMID:20340136|PMID:20340316|PMID:20505745|PMID:20522552|PMID:20539244|PMID:20653773|PMID:20876876|PMID:21085193|PMID:21150883|PMID:21325014|PMID:21412928|PMID:21462282|PMID:21503581|PMID:21507037|PMID:21619050|PMID:21801156|PMID:21893440|PMID:22083977|PMID:22368299|PMID:22804906|PMID:22817889|PMID:22841127|PMID:2319082|PMID:23190892|PMID:23371019|PMID:23613284|PMID:24163379|PMID:24336570|PMID:24436047|PMID:24436120|PMID:24569790|PMID:24659262|PMID:24660985|PMID:24728327|PMID:25064638|PMID:25157968|PMID:25268584|PMID:25294512|PMID:25318351|PMID:25353071|PMID:25356972|PMID:25370744|PMID:25372287|PMID:25503501|PMID:25685612|PMID:25741868|PMID:25780468|PMID:25803691|PMID:25877891|PMID:25980754|PMID:26104880|PMID:26138366|PMID:26205736|PMID:26223839|PMID:26225579|PMID:26467025|PMID:26542317|PMID:26650189|PMID:26650572|PMID:26681309|PMID:2677576|PMID:26775776|PMID:26800492|PMID:26876133|PMID:26907448|PMID:27083775|PMID:27267843|PMID:27287845|PMID:27473757|PMID:27756164|PMID:27804060|PMID:27960642|PMID:27978560|PMID:27993330|PMID:28060055|PMID:28135145|PMID:28146043|PMID:28218424|PMID:28410231|PMID:28440912|PMID:28467829|PMID:28492532|PMID:28592523|PMID:28717660|PMID:28726808|PMID:28765326|PMID:28767289|PMID:28830827|PMID:28830923|PMID:28866070|PMID:28873162|PMID:28979722|PMID:29091774|PMID:29110637|PMID:29316957|PMID:29360161|PMID:29464027|PMID:29506128|PMID:29533785|PMID:29543703|PMID:29641532|PMID:29661971|PMID:29774366|PMID:29915805|PMID:29922827|PMID:29961768|PMID:29983899|PMID:30038052|PMID:30274933|PMID:30291219|PMID:30306255|PMID:30443844|PMID:30548481|PMID:30742731|PMID:30967399|PMID:31159747|PMID:31382929|PMID:31419753|PMID:31432501|PMID:31567591|PMID:31911633|PMID:31980996|PMID:32113160|PMID:32221274|PMID:32455486|PMID:32482799|PMID:32659967|PMID:32760473|PMID:32941720|PMID:32980694|PMID:33050356|PMID:33134534|PMID:33309985|PMID:33322357|PMID:33397043|PMID:33436027|PMID:33766116|PMID:33945383|PMID:34067022|PMID:34099663|PMID:34166060|PMID:34308104|PMID:34369425|PMID:35001868|PMID:35029067|PMID:35101336|PMID:35171259|PMID:35566480|PMID:35777164|PMID:35980532|PMID:36243179|PMID:36315513|PMID:37322831|PMID:37422710|PMID:37536918|PMID:37568588|PMID:37585199|PMID:37611275|PMID:37762649|PMID:37766469|PMID:38147532|PMID:7566978|PMID:7647780|PMID:7718873|PMID:7777061|PMID:7780957|PMID:7796400|PMID:7923152|PMID:7987387|PMID:8023167|PMID:8573142|PMID:8595405
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8603820|PMID:8668202|PMID:8703847|PMID:8710906|PMID:8723678|PMID:8755727|PMID:8834170|PMID:8841025|PMID:8880901|PMID:8910511|PMID:9036865|PMID:9053859|PMID:9132280|PMID:9166859|PMID:9168184|PMID:9185756|PMID:9328469|PMID:9389568|PMID:9416844|PMID:9425228|PMID:945228|PMID:9473234|PMID:9516223|PMID:9536098|PMID:9660926|PMID:9699728|PMID:9710613|PMID:9751050|PMID:9782052|PMID:9808520|PMID:9823374|PMID:9856841|PMID:9935245
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:17300232
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:12378512|PMID:16317707|PMID:27064257|PMID:33010264
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:24991542
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:15144691|PMID:16860786
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007702	Carcinogenesis		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21526190
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007715	Endometrial Neoplasms	severity	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:increased expression:endometrium	PMID:16837908|REF_RGD_ID:2289683
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9007973	Genetic Translocation		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21325069|PMID:21526190
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008165	Chromosome Deletion		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:21526190
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:737039	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:31004929
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:20948315
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		protein:decreased expression:breast	PMID:8686738|REF_RGD_ID:2289690
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation:promoter	PMID:23712779|REF_RGD_ID:8552384
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:missense mutation: :p.A148T	PMID:15879498|REF_RGD_ID:2289688
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737039	D	RGD:9068941	20220114	RGD		mRNA,protein:altered expression:bone marrow:	PMID:11697625|REF_RGD_ID:11252080
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion: :	PMID:11064355|REF_RGD_ID:11251749
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9538	multiple myeloma		ISO	RGD:737039	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:16008847
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:hypermethylation::	PMID:12681979|REF_RGD_ID:11252185
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737039	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453839
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD			PMID:25675863|REF_RGD_ID:11252082
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion: :	PMID:10090949|REF_RGD_ID:11251764
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:deletion: :	PMID:9204978|REF_RGD_ID:11252081
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:737039	D	RGD:9068941	20220114	RGD		DNA:missense mutations:cds:	PMID:26104880|REF_RGD_ID:11057958
12116424	CDKN2A	cyclin dependent kinase inhibitor 2A	gene	DOID:9970	obesity		ISO	RGD:2323	D	RGD:9068941	20220114	RGD			PMID:22194422|REF_RGD_ID:8552660
12116430	LOC100683252	C-type lectin domain family 9 member A-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116430	LOC100683252	C-type lectin domain family 9 member A-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346640	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116430	LOC100683252	C-type lectin domain family 9 member A-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116430	LOC100683252	C-type lectin domain family 9 member A-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116430	LOC100683252	C-type lectin domain family 9 member A-like	gene	DOID:9256	colorectal cancer		ISO	RGD:1346640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12116441	UQCC6	ubiquinol-cytochrome c reductase complex assembly factor 6	gene	DOID:5041	esophageal cancer		ISO	RGD:2301389	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116441	UQCC6	ubiquinol-cytochrome c reductase complex assembly factor 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2301389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116441	UQCC6	ubiquinol-cytochrome c reductase complex assembly factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2301389	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116448	YDJC	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116448	YDJC	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116448	YDJC	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116448	YDJC	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116448	YDJC	YdjC chitooligosaccharide deacetylase homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116461	MANEAL	mannosidase endo-alpha like	gene	DOID:13533	osteopetrosis		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	
12116461	MANEAL	mannosidase endo-alpha like	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
12116461	MANEAL	mannosidase endo-alpha like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116469	MIR539	microRNA mir-539	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1606048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12116469	MIR539	microRNA mir-539	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27717846
12116469	MIR539	microRNA mir-539	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1606048	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12116502	SERTM2	serine rich and transmembrane domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:7249247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:1115	sarcoma		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:3070	high grade glioma		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:4362	cervical cancer		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116531	LOC106557472	torsin-1A-interacting protein 2-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116574	IL18	interleukin 18	gene	DOID:0050120	hemophagocytic lymphohistiocytosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Epstein-Barr Virus Infections;protein:increased expression:serum	PMID:20472718|REF_RGD_ID:8655917
12116574	IL18	interleukin 18	gene	DOID:0050847	sleep apnea	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:19187612|REF_RGD_ID:4889903
12116574	IL18	interleukin 18	gene	DOID:0051061	stroke		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:21171972|REF_RGD_ID:4891154
12116574	IL18	interleukin 18	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16428475|REF_RGD_ID:8655925
12116574	IL18	interleukin 18	gene	DOID:0060319	cardiac arrest		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18679114|REF_RGD_ID:4889454
12116574	IL18	interleukin 18	gene	DOID:0070227	intrahepatic cholestasis of pregnancy	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:28697498|REF_RGD_ID:14696655
12116574	IL18	interleukin 18	gene	DOID:0080162	lupus nephritis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:20980973|REF_RGD_ID:6893449
12116574	IL18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20422882|REF_RGD_ID:14696664
12116574	IL18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:28660148|REF_RGD_ID:14696674
12116574	IL18	interleukin 18	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24006666|REF_RGD_ID:8655964
12116574	IL18	interleukin 18	gene	DOID:0080600	COVID-19		ISO	RGD:730894	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12116574	IL18	interleukin 18	gene	DOID:0080600	COVID-19		ISO	RGD:730894	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12116574	IL18	interleukin 18	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730894	D	RGD:9068941	20200618	RGD		protein:increased expression:plasma (human)	PMID:32360286|REF_RGD_ID:30309209
12116574	IL18	interleukin 18	gene	DOID:0080745	polymyositis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
12116574	IL18	interleukin 18	gene	DOID:0080784	urinary tract infection		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:19171043|REF_RGD_ID:2311084
12116574	IL18	interleukin 18	gene	DOID:0081120	Graves ophthalmopathy	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:12689659|REF_RGD_ID:8655878
12116574	IL18	interleukin 18	gene	DOID:10223	dermatomyositis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
12116574	IL18	interleukin 18	gene	DOID:10457	Legionnaires' disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11083766|REF_RGD_ID:4889865
12116574	IL18	interleukin 18	gene	DOID:10955	strongyloidiasis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16129701|REF_RGD_ID:8655932
12116574	IL18	interleukin 18	gene	DOID:11162	respiratory failure		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with pancreatitis; protein:increased expression:plasma	PMID:19357034|REF_RGD_ID:4889556
12116574	IL18	interleukin 18	gene	DOID:11335	sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16100009
12116574	IL18	interleukin 18	gene	DOID:11335	sarcoidosis	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17015003|REF_RGD_ID:4889815
12116574	IL18	interleukin 18	gene	DOID:11396	pulmonary edema		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19394645|REF_RGD_ID:4889555
12116574	IL18	interleukin 18	gene	DOID:114	heart disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20644901|REF_RGD_ID:4889158
12116574	IL18	interleukin 18	gene	DOID:1205	allergic disease		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12116574	IL18	interleukin 18	gene	DOID:12351	alcoholic hepatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated alcoholic liver cirrhosis;  protein:increased expression:plasma:	PMID:15566508|REF_RGD_ID:14696666
12116574	IL18	interleukin 18	gene	DOID:12361	Graves' disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12689659|REF_RGD_ID:8655878
12116574	IL18	interleukin 18	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:multiple	PMID:16571086|REF_RGD_ID:8655916
12116574	IL18	interleukin 18	gene	DOID:12662	paracoccidioidomycosis	treatment	ISO	RGD:730894	D	RGD:9068941	20201015	RGD			PMID:28992214|REF_RGD_ID:39938858
12116574	IL18	interleukin 18	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:rs360721 (human)	PMID:18043444|REF_RGD_ID:4889584
12116574	IL18	interleukin 18	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:20130064|REF_RGD_ID:4889550
12116574	IL18	interleukin 18	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:saliva	PMID:23906036|REF_RGD_ID:8655918
12116574	IL18	interleukin 18	gene	DOID:13141	uveitis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:22562515|REF_RGD_ID:8655982
12116574	IL18	interleukin 18	gene	DOID:13241	Behcet's disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:14727452|REF_RGD_ID:4889844
12116574	IL18	interleukin 18	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:promoter:-607C>A (rs1946518) (human)	PMID:16273766|REF_RGD_ID:8655910
12116574	IL18	interleukin 18	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-1297T>C (rs360719), -137G>C (rs187238) (human)	PMID:21532063|REF_RGD_ID:8655926
12116574	IL18	interleukin 18	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:17055358|REF_RGD_ID:8655897
12116574	IL18	interleukin 18	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15234532|REF_RGD_ID:8655927
12116574	IL18	interleukin 18	gene	DOID:13375	temporal arteritis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-607C>A (rs1946518), -1297T>C (rs360719) (human)	PMID:20331879|REF_RGD_ID:8655865
12116574	IL18	interleukin 18	gene	DOID:13375	temporal arteritis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:20331879|REF_RGD_ID:8655865
12116574	IL18	interleukin 18	gene	DOID:13378	Kawasaki disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:silent mutation, haplotypes:cds:c.105A>C (rs549908)  (human)	PMID:19288449|REF_RGD_ID:8655898
12116574	IL18	interleukin 18	gene	DOID:13378	Kawasaki disease	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:15345916|REF_RGD_ID:8655924
12116574	IL18	interleukin 18	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C, -607C>A, -656G>T (rs187238, rs1946519, rs1946518) (human)	PMID:18484687|REF_RGD_ID:8655874
12116574	IL18	interleukin 18	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchoalveolar lavage fluid	PMID:16734560|REF_RGD_ID:4889823
12116574	IL18	interleukin 18	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11174201|REF_RGD_ID:4889863
12116574	IL18	interleukin 18	gene	DOID:13608	biliary atresia		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10726686|REF_RGD_ID:14695529
12116574	IL18	interleukin 18	gene	DOID:13608	biliary atresia	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:rs187238,rs1946518(human)	PMID:30059753|REF_RGD_ID:14695528
12116574	IL18	interleukin 18	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21273262
12116574	IL18	interleukin 18	gene	DOID:1485	cystic fibrosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
12116574	IL18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204966
12116574	IL18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:24490166|REF_RGD_ID:8655890
12116574	IL18	interleukin 18	gene	DOID:1555	urticaria		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:21692767|REF_RGD_ID:8655894
12116574	IL18	interleukin 18	gene	DOID:1612	breast cancer		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:19152241|REF_RGD_ID:8655899
12116574	IL18	interleukin 18	gene	DOID:1612	breast cancer		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:12209760|REF_RGD_ID:8655866
12116574	IL18	interleukin 18	gene	DOID:1612	breast cancer	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518) (human)	PMID:19152241|REF_RGD_ID:8655899
12116574	IL18	interleukin 18	gene	DOID:1679	cystitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:urine, bladder	PMID:18848347|REF_RGD_ID:2317284
12116574	IL18	interleukin 18	gene	DOID:182	calcinosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12116574	IL18	interleukin 18	gene	DOID:1824	status epilepticus		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20674684|REF_RGD_ID:4889491
12116574	IL18	interleukin 18	gene	DOID:1883	hepatitis C		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27927859|REF_RGD_ID:14696653
12116574	IL18	interleukin 18	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:21984735|REF_RGD_ID:14696657
12116574	IL18	interleukin 18	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-607C>A, -137G>C(human)	PMID:18781864|REF_RGD_ID:14695527
12116574	IL18	interleukin 18	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518)(human)	PMID:26486291|REF_RGD_ID:14696654
12116574	IL18	interleukin 18	gene	DOID:1883	hepatitis C	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-137G>C,-607C>A(human)	PMID:19455410|REF_RGD_ID:14695530
12116574	IL18	interleukin 18	gene	DOID:1909	melanoma		ISO	RGD:730894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116574	IL18	interleukin 18	gene	DOID:1936	atherosclerosis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
12116574	IL18	interleukin 18	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23685195|REF_RGD_ID:8655997
12116574	IL18	interleukin 18	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter,intron,exon:���148G>C, +8925C>G,+13925A>C(human)	PMID:19466545|REF_RGD_ID:14696658
12116574	IL18	interleukin 18	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma; DNA:SNP:promoter:-137G>C(rs187238)(human)	PMID:27429592|REF_RGD_ID:14695540
12116574	IL18	interleukin 18	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
12116574	IL18	interleukin 18	gene	DOID:2316	brain ischemia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:11807395|REF_RGD_ID:4889510
12116574	IL18	interleukin 18	gene	DOID:2316	brain ischemia		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
12116574	IL18	interleukin 18	gene	DOID:2723	dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12925208|REF_RGD_ID:8655896
12116574	IL18	interleukin 18	gene	DOID:2773	contact dermatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12116574	IL18	interleukin 18	gene	DOID:2841	asthma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:20497957|REF_RGD_ID:4889898
12116574	IL18	interleukin 18	gene	DOID:2841	asthma		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:18826499|PMID:20497957|REF_RGD_ID:4889898|REF_RGD_ID:4889908
12116574	IL18	interleukin 18	gene	DOID:2841	asthma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11174201|REF_RGD_ID:4889863
12116574	IL18	interleukin 18	gene	DOID:2841	asthma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: c.-380C>G (rs5744247)(human)	PMID:19745201|REF_RGD_ID:4889900
12116574	IL18	interleukin 18	gene	DOID:2841	asthma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:Promoter:c. -607C>A (rs1946518), -137G/C (rs187238) (human)	PMID:17767553|REF_RGD_ID:4889585
12116574	IL18	interleukin 18	gene	DOID:2841	asthma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c.and -137G>C (rs187238)(human)	PMID:16433859|REF_RGD_ID:4889923
12116574	IL18	interleukin 18	gene	DOID:2841	asthma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :c. -105A>C (human)	PMID:18200581|REF_RGD_ID:4889910
12116574	IL18	interleukin 18	gene	DOID:2921	glomerulonephritis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18462998
12116574	IL18	interleukin 18	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:730894	D	RGD:9068941	20200702	RGD		protein:increased expression:serum (human)	PMID:15602737|REF_RGD_ID:32716399
12116574	IL18	interleukin 18	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
12116574	IL18	interleukin 18	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:22518072|REF_RGD_ID:6893446
12116574	IL18	interleukin 18	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16273770|REF_RGD_ID:8655877
12116574	IL18	interleukin 18	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:21263407|REF_RGD_ID:8655888
12116574	IL18	interleukin 18	gene	DOID:3021	acute kidney failure		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11342578|REF_RGD_ID:6893450
12116574	IL18	interleukin 18	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27585668
12116574	IL18	interleukin 18	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:9781803|REF_RGD_ID:8655902
12116574	IL18	interleukin 18	gene	DOID:3042	allergic contact dermatitis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12874202|REF_RGD_ID:8655940
12116574	IL18	interleukin 18	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:18725309|REF_RGD_ID:8657054
12116574	IL18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Pseudomonas Infection; protein:increased expression:lung	PMID:20543002|REF_RGD_ID:4889883
12116574	IL18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with dermatomyositis; protein:increased expression:serum	PMID:20601655|REF_RGD_ID:4889547
12116574	IL18	interleukin 18	gene	DOID:3082	interstitial lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21257923|REF_RGD_ID:5144220
12116574	IL18	interleukin 18	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:20026745|REF_RGD_ID:4889551
12116574	IL18	interleukin 18	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum, macrophage	PMID:19208460|REF_RGD_ID:4889575
12116574	IL18	interleukin 18	gene	DOID:326	ischemia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21289055|REF_RGD_ID:6893448
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11490156|REF_RGD_ID:8655908
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis		ISO	RGD:730895	D	RGD:9068941	20240425	MouseDO		OMIM:603165	
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:22840759|REF_RGD_ID:8655914
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-140C>G (rs360721) (human)	PMID:22840759|REF_RGD_ID:8655914
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs795467, rs4937113, rs5744247 (human)	PMID:17517100|REF_RGD_ID:8655876
12116574	IL18	interleukin 18	gene	DOID:3310	atopic dermatitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15317323|REF_RGD_ID:8655872
12116574	IL18	interleukin 18	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20584315|REF_RGD_ID:8655991
12116574	IL18	interleukin 18	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		idiopathic pulmonary fibrosis; protein:increased expression:lung, serum	PMID:15308504|REF_RGD_ID:4889841
12116574	IL18	interleukin 18	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:18598692|REF_RGD_ID:4889581
12116574	IL18	interleukin 18	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
12116574	IL18	interleukin 18	gene	DOID:4079	heart valve disease		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12116574	IL18	interleukin 18	gene	DOID:4481	allergic rhinitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-140C>G (rs360721) (human)	PMID:22840759|REF_RGD_ID:8655914
12116574	IL18	interleukin 18	gene	DOID:4481	allergic rhinitis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:22840759|REF_RGD_ID:8655914
12116574	IL18	interleukin 18	gene	DOID:4483	rhinitis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17323858|REF_RGD_ID:4889916
12116574	IL18	interleukin 18	gene	DOID:4483	rhinitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal lavage fluid, bronchoalveolar lavage fluid	PMID:17305282|REF_RGD_ID:4889917
12116574	IL18	interleukin 18	gene	DOID:4483	rhinitis	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		rhinitis allergic, seasonal; protein:increased expression:plasma	PMID:15934281|REF_RGD_ID:4889927
12116574	IL18	interleukin 18	gene	DOID:4724	brain edema	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:22338606|REF_RGD_ID:6771363
12116574	IL18	interleukin 18	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:22046355|REF_RGD_ID:6893447
12116574	IL18	interleukin 18	gene	DOID:4989	pancreatitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19238530|REF_RGD_ID:4889404
12116574	IL18	interleukin 18	gene	DOID:4989	pancreatitis	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23983797|REF_RGD_ID:8655988
12116574	IL18	interleukin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC:	PMID:19740312|REF_RGD_ID:14696656
12116574	IL18	interleukin 18	gene	DOID:5082	liver cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:12462332|REF_RGD_ID:14695542
12116574	IL18	interleukin 18	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;mRNA:increased expression:PBMC:	PMID:19740312|REF_RGD_ID:14696656
12116574	IL18	interleukin 18	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis C; protein:increased expression:serum:	PMID:27927859|REF_RGD_ID:14696653
12116574	IL18	interleukin 18	gene	DOID:526	human immunodeficiency virus infectious disease	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:27927859|REF_RGD_ID:14696653
12116574	IL18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung,bronchoalveolar fluid	PMID:11739527|REF_RGD_ID:729357
12116574	IL18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12116574	IL18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15955140|REF_RGD_ID:4889836
12116574	IL18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
12116574	IL18	interleukin 18	gene	DOID:552	pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		associated with reperfusion injury	PMID:16052682|REF_RGD_ID:4889825
12116574	IL18	interleukin 18	gene	DOID:5614	eye disease	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Behcet Syndrome;DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:16273766|REF_RGD_ID:8655910
12116574	IL18	interleukin 18	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:2889	D	RGD:9068941	20230330	RGD			PMID:33389498|REF_RGD_ID:242905187
12116574	IL18	interleukin 18	gene	DOID:633	myositis	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:16968394|REF_RGD_ID:8655903
12116574	IL18	interleukin 18	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
12116574	IL18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:26893476|REF_RGD_ID:11538094
12116574	IL18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis B, chronic;DNA:SNP:promoter:-607C>A(human)	PMID:27470888|REF_RGD_ID:14696663
12116574	IL18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with hepatitis C;DNA:SNPs, haplotype:promoter:-607C>A, -137G>C(human)	PMID:29341496|REF_RGD_ID:14695526
12116574	IL18	interleukin 18	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-137G>C(rs187238)(human)	PMID:27429592|REF_RGD_ID:14695540
12116574	IL18	interleukin 18	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16368150
12116574	IL18	interleukin 18	gene	DOID:769	neuroblastoma	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16428511|REF_RGD_ID:8655920
12116574	IL18	interleukin 18	gene	DOID:83	cataract		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18006521|REF_RGD_ID:8655879
12116574	IL18	interleukin 18	gene	DOID:83	cataract		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;mRNA:increased expression:lens	PMID:21591858|REF_RGD_ID:8655881
12116574	IL18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		acute lung injury; associated with cardiac surgical procedures; DNA:polymorphism: : c. -607 C>G (human)	PMID:20522205|REF_RGD_ID:4889548
12116574	IL18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		lung injury; protein:increased expression:lung	PMID:19265174|REF_RGD_ID:4889574
12116574	IL18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		acute lung injury; associated with endotoxemia;	PMID:19197224|REF_RGD_ID:4889576
12116574	IL18	interleukin 18	gene	DOID:850	lung disease		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		lung injury	PMID:19265174|REF_RGD_ID:4889574
12116574	IL18	interleukin 18	gene	DOID:8566	herpes simplex	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:9971824|REF_RGD_ID:8655923
12116574	IL18	interleukin 18	gene	DOID:865	vasculitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19717152|REF_RGD_ID:4889401
12116574	IL18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:ileum	PMID:12032269|PMID:21240009|REF_RGD_ID:5490305|REF_RGD_ID:729222
12116574	IL18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:12529262|REF_RGD_ID:4889473
12116574	IL18	interleukin 18	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17947451|REF_RGD_ID:4889475
12116574	IL18	interleukin 18	gene	DOID:874	bacterial pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17664259|REF_RGD_ID:4889913
12116574	IL18	interleukin 18	gene	DOID:8893	psoriasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17611614|REF_RGD_ID:8655919
12116574	IL18	interleukin 18	gene	DOID:8893	psoriasis	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:22291810|REF_RGD_ID:8655900
12116574	IL18	interleukin 18	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:24801815|REF_RGD_ID:11073600
12116574	IL18	interleukin 18	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:serum	PMID:16260350|REF_RGD_ID:8655907
12116574	IL18	interleukin 18	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19011009|REF_RGD_ID:4889417
12116574	IL18	interleukin 18	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:18367607|REF_RGD_ID:2315889
12116574	IL18	interleukin 18	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23140983|REF_RGD_ID:8655974
12116574	IL18	interleukin 18	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:serum	PMID:12902898|REF_RGD_ID:8655867
12116574	IL18	interleukin 18	gene	DOID:9000197	Edema		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19497959|REF_RGD_ID:4889403
12116574	IL18	interleukin 18	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12116574	IL18	interleukin 18	gene	DOID:9000528	Coronary Disease		ISO	RGD:730894	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	PMID:25741868
12116574	IL18	interleukin 18	gene	DOID:9000641	Pain		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19853379|REF_RGD_ID:2315887
12116574	IL18	interleukin 18	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:11766995|REF_RGD_ID:4889856
12116574	IL18	interleukin 18	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11121210
12116574	IL18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12748951
12116574	IL18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:SNP:promoter:-137G>C (rs187238) (human)	PMID:19152241|REF_RGD_ID:8655899
12116574	IL18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with breast cancer;protein:increased expression:serum	PMID:12209760|REF_RGD_ID:8655866
12116574	IL18	interleukin 18	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11215816|REF_RGD_ID:4889862
12116574	IL18	interleukin 18	gene	DOID:9000998	Brain Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:17188500|REF_RGD_ID:2315917
12116574	IL18	interleukin 18	gene	DOID:9000998	Brain Injuries	severity	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17188500|REF_RGD_ID:2315917
12116574	IL18	interleukin 18	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23000553|REF_RGD_ID:8655963
12116574	IL18	interleukin 18	gene	DOID:9001488	Human Influenza		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15606801|REF_RGD_ID:4889964
12116574	IL18	interleukin 18	gene	DOID:9001547	Tibial Fractures		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:19853379|REF_RGD_ID:2315887
12116574	IL18	interleukin 18	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12116574	IL18	interleukin 18	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:23589298|REF_RGD_ID:14695541
12116574	IL18	interleukin 18	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:15770015|REF_RGD_ID:4889960
12116574	IL18	interleukin 18	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:25919765|REF_RGD_ID:14696667
12116574	IL18	interleukin 18	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:14999688|REF_RGD_ID:14696668
12116574	IL18	interleukin 18	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries	PMID:19036970|REF_RGD_ID:8655929
12116574	IL18	interleukin 18	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17688413
12116574	IL18	interleukin 18	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19467215|REF_RGD_ID:14696662
12116574	IL18	interleukin 18	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:15147345|REF_RGD_ID:4889503
12116574	IL18	interleukin 18	gene	DOID:9002457	Experimental Arthritis	disease_progression	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19096963|REF_RGD_ID:4889415
12116574	IL18	interleukin 18	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:macrophage, microglia:	PMID:11494369|REF_RGD_ID:4889526
12116574	IL18	interleukin 18	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:9834127|REF_RGD_ID:4889543
12116574	IL18	interleukin 18	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:9846824|REF_RGD_ID:4889542
12116574	IL18	interleukin 18	gene	DOID:9002798	Macrophage Activation Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Arthritis, Juvenile;protein:increased expression:serum	PMID:20472718|REF_RGD_ID:8655917
12116574	IL18	interleukin 18	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22967010
12116574	IL18	interleukin 18	gene	DOID:9002916	Hyperphagia		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
12116574	IL18	interleukin 18	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:17854431|REF_RGD_ID:8655868
12116574	IL18	interleukin 18	gene	DOID:9003036	Oral Lichen Planus	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, intron:-656G>T (rs1946519), 1248A>G (rs189667) (human)	PMID:17854431|REF_RGD_ID:8655868
12116574	IL18	interleukin 18	gene	DOID:9003657	Perennial Allergic Rhinitis	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:c. -607A>C (rs1946518) (human)	PMID:16406079|REF_RGD_ID:4889924
12116574	IL18	interleukin 18	gene	DOID:9003690	Carcinoma, Lewis Lung	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16767432|REF_RGD_ID:8655941
12116574	IL18	interleukin 18	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22318348|REF_RGD_ID:8655957
12116574	IL18	interleukin 18	gene	DOID:9003936	Cardiomegaly		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18660453
12116574	IL18	interleukin 18	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19394645|REF_RGD_ID:4889555
12116574	IL18	interleukin 18	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16052682|REF_RGD_ID:4889825
12116574	IL18	interleukin 18	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:19740312|REF_RGD_ID:14696656
12116574	IL18	interleukin 18	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A (rs1946518)(human)	PMID:25198668|REF_RGD_ID:14696651
12116574	IL18	interleukin 18	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12230493|PMID:17411412|REF_RGD_ID:8655870|REF_RGD_ID:8655901
12116574	IL18	interleukin 18	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21962809|REF_RGD_ID:8655943
12116574	IL18	interleukin 18	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:24223666|REF_RGD_ID:8655952
12116574	IL18	interleukin 18	gene	DOID:9004729	Nontuberculous Mycobacterium Infections		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:21045270|REF_RGD_ID:4889546
12116574	IL18	interleukin 18	gene	DOID:9004994	Embryo Loss		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:21920610|REF_RGD_ID:8655947
12116574	IL18	interleukin 18	gene	DOID:9005236	Drug Eruptions		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18204966
12116574	IL18	interleukin 18	gene	DOID:9005966	Staphylococcal Skin Infections	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21536791|REF_RGD_ID:8655921
12116574	IL18	interleukin 18	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:16864728|REF_RGD_ID:4889500
12116574	IL18	interleukin 18	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery	PMID:19955748|REF_RGD_ID:4889159
12116574	IL18	interleukin 18	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:22089199|REF_RGD_ID:8655971
12116574	IL18	interleukin 18	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:2889	D	RGD:9068941	20250403	RGD			PMID:29260441|REF_RGD_ID:598099561
12116574	IL18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19717152|REF_RGD_ID:4889401
12116574	IL18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16644639
12116574	IL18	interleukin 18	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24456735|REF_RGD_ID:8655985
12116574	IL18	interleukin 18	gene	DOID:9006966	Pseudomonas Aeruginosa Keratitis		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:12023376|REF_RGD_ID:8655931
12116574	IL18	interleukin 18	gene	DOID:9007356	Eczema		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:multiple	PMID:15806006|REF_RGD_ID:8655937
12116574	IL18	interleukin 18	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24349532
12116574	IL18	interleukin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19164858
12116574	IL18	interleukin 18	gene	DOID:9007480	Hyperoxia		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19672068|REF_RGD_ID:4889402
12116574	IL18	interleukin 18	gene	DOID:9007692	Insulin Resistance		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
12116574	IL18	interleukin 18	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		associated with Graves Disease	PMID:23257837|REF_RGD_ID:8655938
12116574	IL18	interleukin 18	gene	DOID:9007730	Burns		ISO	RGD:730895	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:19197224|REF_RGD_ID:4889576
12116574	IL18	interleukin 18	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:17562991|REF_RGD_ID:8655891
12116574	IL18	interleukin 18	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17234681|REF_RGD_ID:8655930
12116574	IL18	interleukin 18	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19805173|REF_RGD_ID:4889400
12116574	IL18	interleukin 18	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:19164288|REF_RGD_ID:4889578
12116574	IL18	interleukin 18	gene	DOID:9007874	Liver Failure	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:23155311|REF_RGD_ID:8655993
12116574	IL18	interleukin 18	gene	DOID:9008103	Seasonal Allergic Rhinitis	no_association	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoters:multiple	PMID:12532106|REF_RGD_ID:8655871
12116574	IL18	interleukin 18	gene	DOID:9008103	Seasonal Allergic Rhinitis	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoters, exon:multiple	PMID:12532106|REF_RGD_ID:8655871
12116574	IL18	interleukin 18	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-607C>A(human)	PMID:27470888|REF_RGD_ID:14696663
12116574	IL18	interleukin 18	gene	DOID:9008691	Liver Injury		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:24412291|REF_RGD_ID:14696652
12116574	IL18	interleukin 18	gene	DOID:9008691	Liver Injury		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:21106643|REF_RGD_ID:8655972
12116574	IL18	interleukin 18	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome		ISO	RGD:730894	D	RGD:9068941	20200609	RGD			PMID:15353983|REF_RGD_ID:8655934
12116574	IL18	interleukin 18	gene	DOID:9008856	HIV-Associated Lipodystrophy Syndrome	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:-137G>C (rs187238), -607C>A (rs1946518) (human)	PMID:20331838|REF_RGD_ID:8655915
12116574	IL18	interleukin 18	gene	DOID:9065	leishmaniasis		ISO	RGD:730894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16879623
12116574	IL18	interleukin 18	gene	DOID:9065	leishmaniasis	treatment	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:10768930|REF_RGD_ID:8655909
12116574	IL18	interleukin 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116574	IL18	interleukin 18	gene	DOID:9146	visceral leishmaniasis	susceptibility	ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16879623|REF_RGD_ID:8655922
12116574	IL18	interleukin 18	gene	DOID:9452	steatotic liver disease		ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:19084941|REF_RGD_ID:4889416
12116574	IL18	interleukin 18	gene	DOID:9675	pulmonary emphysema		ISO	RGD:2889	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system fluid/secretion, macrophage	PMID:23392573|REF_RGD_ID:8655969
12116574	IL18	interleukin 18	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:17400729|REF_RGD_ID:4889590
12116574	IL18	interleukin 18	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:730894	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18359638|REF_RGD_ID:8655935
12116574	IL18	interleukin 18	gene	DOID:986	alopecia areata	susceptibility	ISO	RGD:730894	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter, exon:-137G>C (rs187238), rs549908 (human)	PMID:24446726|REF_RGD_ID:8655875
12116574	IL18	interleukin 18	gene	DOID:9970	obesity		ISO	RGD:730895	D	RGD:9068941	20200609	RGD			PMID:16732281|REF_RGD_ID:14695532
12116574	IL18	interleukin 18	gene	DOID:9970	obesity	treatment	ISO	RGD:2889	D	RGD:9068941	20200609	RGD			PMID:20490358|REF_RGD_ID:7175343
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1115	sarcoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:1909	melanoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116590	PIP5K1B	phosphatidylinositol-4-phosphate 5-kinase type 1 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:10907	microcephaly		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1602886	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9007661	Dwarfism		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
12116624	MCUB	mitochondrial calcium uniporter dominant negative subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602886	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116636	CD74	CD74 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116636	CD74	CD74 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116636	CD74	CD74 molecule	gene	DOID:0060058	lymphoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12116636	CD74	CD74 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116636	CD74	CD74 molecule	gene	DOID:1909	melanoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116636	CD74	CD74 molecule	gene	DOID:3275	thymoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116636	CD74	CD74 molecule	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919003
12116636	CD74	CD74 molecule	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12116636	CD74	CD74 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116636	CD74	CD74 molecule	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116636	CD74	CD74 molecule	gene	DOID:9000918	Disease Progression		ISO	RGD:1350471	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:34797429
12116636	CD74	CD74 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12116636	CD74	CD74 molecule	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1350471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16799971
12116636	CD74	CD74 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116636	CD74	CD74 molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350471	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19602265
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:0050742	nicotine dependence		ISO	RGD:1317573	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:29216386
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:1324	lung cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12116652	DHRS7	dehydrogenase/reductase 7	gene	DOID:9452	steatotic liver disease		ISO	RGD:1317573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12116663	SIAH3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116663	SIAH3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116663	SIAH3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603255	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116663	SIAH3	siah E3 ubiquitin protein ligase family member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:7240710	20180130	OMIM			
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:0080555	congenital disorder of glycosylation Ic		ISO	RGD:1318803	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG6-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1C | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1c | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ic	PMID:10359825|PMID:10852543|PMID:10914684|PMID:11106564|PMID:12357336|PMID:12855228|PMID:14517965|PMID:15771971|PMID:16007612|PMID:16199547|PMID:16321363|PMID:17576681|PMID:19862844|PMID:20447155|PMID:21899441|PMID:23044053|PMID:23430515|PMID:25741868|PMID:26453362|PMID:27287710|PMID:28492532|PMID:30653653|PMID:31117816|PMID:32407885|PMID:32635232|PMID:36756224|PMID:39141102|PMID:9536098
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1318803	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:2975	cystic kidney disease		ISO	RGD:1318803	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: cystic kidney disease	PMID:25741868|PMID:28492532
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318803	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9007817	Macroglossia		ISO	RGD:1318803	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12116669	ALG6	ALG6 alpha-1,3-glucosyltransferase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318803	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12116696	CCDC126	coiled-coil domain containing 126	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12116696	CCDC126	coiled-coil domain containing 126	gene	DOID:4362	cervical cancer		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116696	CCDC126	coiled-coil domain containing 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116696	CCDC126	coiled-coil domain containing 126	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12116696	CCDC126	coiled-coil domain containing 126	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344487	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28166811|PMID:28492532
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0060947	autosomal recessive intellectual developmental disorder 82		ISO	RGD:1344487	D	RGD:7240710	20240501	OMIM			
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0060947	autosomal recessive intellectual developmental disorder 82		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 82	PMID:25741868|PMID:37226891
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:0112218	developmental and epileptic encephalopathy 83		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 83	PMID:25741868
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1115	sarcoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1324	lung cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:1909	melanoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344487	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1344487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344487	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28114269
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116719	NSUN6	NOP2/Sun RNA methyltransferase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0050083	Keshan disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:21055077|REF_RGD_ID:11352821
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0050866	oral squamous cell carcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:increased expression:oral cavity (human)	PMID:28653098|REF_RGD_ID:152995473
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0060058	lymphoma		ISO	RGD:737005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0060060	non-Hodgkin lymphoma	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:25016003|REF_RGD_ID:11352765
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:27077777|REF_RGD_ID:11352761
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:24597775|REF_RGD_ID:11352823
12116742	GPX1	glutathione peroxidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:737005	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		protein:decreased expression:stomach (human)	PMID:22843889|REF_RGD_ID:151665483
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation, haplotype:CDS:p.P198L (human)	PMID:19035188|REF_RGD_ID:152995456
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		protein:decreased expression:placenta	PMID:20303587|PMID:28705740|REF_RGD_ID:401827170|REF_RGD_ID:401827825
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:737005	D	RGD:9068941	20230930	RGD		mRNA:decreased expression:placenta	PMID:18852388|REF_RGD_ID:401827849
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10763	hypertension		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21593737
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10763	hypertension		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein,mRNA:decreased_expression:mononuclear_cells:after treatment, activity increased but mRNA expression decreased further	PMID:17198913|REF_RGD_ID:1600704
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:2729	D	RGD:9068941	20230720	RGD			PMID:21210316|PMID:23752977|PMID:31572179|REF_RGD_ID:11352825|REF_RGD_ID:11353777|REF_RGD_ID:329956417
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		protein:decreased expression:penis	PMID:22620981|REF_RGD_ID:11352757
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:20846340|REF_RGD_ID:11352775
12116742	GPX1	glutathione peroxidase 1	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:19951064|REF_RGD_ID:11352756
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1099	alpha thalassemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:24577940|REF_RGD_ID:11352811
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737005	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:15247771|PMID:35764155
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11476	osteoporosis		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood	PMID:16338763|REF_RGD_ID:1600708
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:22342560|REF_RGD_ID:11353780
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:7861256|REF_RGD_ID:11352760
12116742	GPX1	glutathione peroxidase 1	gene	DOID:11758	iron deficiency anemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency, Chronic	PMID:24691014|REF_RGD_ID:11352819
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:2729	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:2729	D	RGD:9068941	20231005	RGD		mRNA:increased expression:kidney	PMID:20685819|REF_RGD_ID:7205671
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1240	leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:17205986|REF_RGD_ID:11352809
12116742	GPX1	glutathione peroxidase 1	gene	DOID:12849	autistic disorder		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19195803
12116742	GPX1	glutathione peroxidase 1	gene	DOID:12858	Huntington's disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:18588971|REF_RGD_ID:13432193
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14573732
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P198L (human)	PMID:15331559|REF_RGD_ID:2306612
12116742	GPX1	glutathione peroxidase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18940188
12116742	GPX1	glutathione peroxidase 1	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:18940188|REF_RGD_ID:2306616
12116742	GPX1	glutathione peroxidase 1	gene	DOID:13001	carotid stenosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:23426106|REF_RGD_ID:11352755
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:16615267|REF_RGD_ID:152023634
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:mutations:multiple (human)	PMID:32850411|REF_RGD_ID:152995450
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS: (rs1050450) (human)	PMID:23516596|REF_RGD_ID:152998903
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:11103801|PMID:15192016|REF_RGD_ID:152995449|REF_RGD_ID:152995506
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:22733496|REF_RGD_ID:7257534
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1596	depressive disorder		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:23707456|REF_RGD_ID:11352766
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:repeat:CDS: (human)	PMID:14744747|REF_RGD_ID:152995457
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15557674
12116742	GPX1	glutathione peroxidase 1	gene	DOID:182	calcinosis	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P197L (human)	PMID:17825092|REF_RGD_ID:2306608
12116742	GPX1	glutathione peroxidase 1	gene	DOID:1826	epilepsy		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19499324
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668|PMID:18560803
12116742	GPX1	glutathione peroxidase 1	gene	DOID:219	colon cancer		ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA, protein:increased expression:colon (human)	PMID:21868509|REF_RGD_ID:152995496
12116742	GPX1	glutathione peroxidase 1	gene	DOID:219	colon cancer	treatment	ISO	RGD:10681	D	RGD:9068941	20220624	RGD		associated with Inflammation	PMID:28045589|REF_RGD_ID:152995480
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2316	brain ischemia		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12531513
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2349	arteriosclerosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17420349|REF_RGD_ID:2306610
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2355	anemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Kidney Failure, Chronic	PMID:8939405|REF_RGD_ID:11352778
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2355	anemia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:21422078|REF_RGD_ID:11352776
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2527	nephrosis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:22046528|REF_RGD_ID:7240570
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2596	larynx cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS: (rs1050450) (human)	PMID:23516596|REF_RGD_ID:152998903
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15247771
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2738	pseudoxanthoma elasticum	onset	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:c.593C>T (rs1050450)	PMID:17693525|REF_RGD_ID:8547520
12116742	GPX1	glutathione peroxidase 1	gene	DOID:285	hairy cell leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:8843970|REF_RGD_ID:11353776
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:27188866|REF_RGD_ID:152995455
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:increased expression:larynx (human)	PMID:28641905|REF_RGD_ID:152995454
12116742	GPX1	glutathione peroxidase 1	gene	DOID:2876	laryngeal squamous cell carcinoma	no_association	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:24074040|REF_RGD_ID:152995493
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:repeat:exon	PMID:12655278|REF_RGD_ID:1600677
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3393	coronary artery disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		cardiovascular complications in type 2 diabetics; protein:reduced_activity:blood	PMID:16338763|REF_RGD_ID:1600708
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		protein:decreased expression:mucosa of stomach (human)	PMID:24228025|REF_RGD_ID:152995446
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA:decreased expression:stomach, erythrocyte, lymphocyte (human)	PMID:27957666|REF_RGD_ID:152998894
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:missense mutation:CDS:p.P200L (rs1050450) (human)	PMID:18298806|REF_RGD_ID:152995507
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3907	lung squamous cell carcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220624	RGD		DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:16797832|REF_RGD_ID:152995481
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3908	lung non-small cell carcinoma	onset	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		mRNA:increased expression:leukocyte (human)	PMID:33474835|REF_RGD_ID:152998904
12116742	GPX1	glutathione peroxidase 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:737005	D	RGD:9068941	20220630	RGD		DNA:SNP: (human)	PMID:19347979|REF_RGD_ID:152998881
12116742	GPX1	glutathione peroxidase 1	gene	DOID:4195	hyperglycemia		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668
12116742	GPX1	glutathione peroxidase 1	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:19819955|REF_RGD_ID:11353779
12116742	GPX1	glutathione peroxidase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737005	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: marker/mechanism	PMID:39294077
12116742	GPX1	glutathione peroxidase 1	gene	DOID:5517	stomach carcinoma	exacerbates	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		protein:decreased expression:stomach (human)	PMID:8001233|REF_RGD_ID:152023661
12116742	GPX1	glutathione peroxidase 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:14573732|REF_RGD_ID:1600662
12116742	GPX1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730872	D	RGD:9068941	20220415	RGD		associated with alcoholic liver cirrhosis;DNA:missense mutation:CDS:p.P198L (human)	PMID:16510607|REF_RGD_ID:151708729
12116742	GPX1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	no_association	ISO	RGD:737005	D	RGD:9068941	20220701	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:25894370|REF_RGD_ID:152998906
12116742	GPX1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:737005	D	RGD:9068941	20220415	RGD		associated with hepatitis C;DNA:missense mutation:CDS:p.P198L (rs1050450) (human)	PMID:26990426|REF_RGD_ID:11533013
12116742	GPX1	glutathione peroxidase 1	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732740	D	RGD:9068941	20220624	RGD			PMID:19929244|REF_RGD_ID:152995483
12116742	GPX1	glutathione peroxidase 1	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:10681	D	RGD:9068941	20230928	RGD			PMID:21530968|PMID:24337353|REF_RGD_ID:401827823|REF_RGD_ID:401827834
12116742	GPX1	glutathione peroxidase 1	gene	DOID:784	chronic kidney disease		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		DNA:SNP: :rs17080528 (human)	PMID:31924810|REF_RGD_ID:401827826
12116742	GPX1	glutathione peroxidase 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:15954914|REF_RGD_ID:11352759
12116742	GPX1	glutathione peroxidase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:19914224|REF_RGD_ID:9068475
12116742	GPX1	glutathione peroxidase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19914224
12116742	GPX1	glutathione peroxidase 1	gene	DOID:83	cataract		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:23194826|REF_RGD_ID:11353787
12116742	GPX1	glutathione peroxidase 1	gene	DOID:8552	chronic myeloid leukemia	no_association	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:25436036|REF_RGD_ID:11352762
12116742	GPX1	glutathione peroxidase 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein:decreased expression:erythrocyte	PMID:20186929|REF_RGD_ID:11352754
12116742	GPX1	glutathione peroxidase 1	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24968700|REF_RGD_ID:11352822
12116742	GPX1	glutathione peroxidase 1	gene	DOID:8778	Crohn's disease		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		protein:decreased expression:erythrocyte	PMID:20186929|REF_RGD_ID:11352754
12116742	GPX1	glutathione peroxidase 1	gene	DOID:8923	skin melanoma		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		mRNA:increased expression:skin of body (human)	PMID:29535818|REF_RGD_ID:152023655
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:737005	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9000582	Reticulocytosis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:6320862|REF_RGD_ID:11353799
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus, neuron	PMID:15791111|REF_RGD_ID:2306624
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9001109	Anorexia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Uremia	PMID:12005352|REF_RGD_ID:11352773
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9001191	Cadmium Poisoning	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24954678|REF_RGD_ID:11352769
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:737005	D	RGD:9068941	20230928	RGD		mRNA, protein:increased expression:blood, plasma	PMID:28298473|REF_RGD_ID:401827171
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:2729	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:10681	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:17609286|REF_RGD_ID:2306609
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:16249459|REF_RGD_ID:11068479
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:2729	D	RGD:9068941	20231005	RGD		associated with Experimental Diabetes Mellitus	PMID:32592386|REF_RGD_ID:401827869
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:16844917|REF_RGD_ID:2306611
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9003298	Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to		ISO	RGD:737005	D	RGD:7240710	20180130	OMIM			
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9003603	Hemolysis		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		following reinfusion of stored blood	PMID:5766310|REF_RGD_ID:1600671
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9003709	Mercury Poisoning		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:18758054|REF_RGD_ID:7240571
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:23426106|REF_RGD_ID:11352755
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23743330
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:2729	D	RGD:9068941	20231007	RGD			PMID:18306454|REF_RGD_ID:2312624
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11103801
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:18387670|REF_RGD_ID:2306607
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:15039483|REF_RGD_ID:2306161
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2729	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19229592|REF_RGD_ID:2306606
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:25744399|REF_RGD_ID:11353782
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9005725	Iron Overload		ISO	RGD:737005	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia	PMID:16317757|REF_RGD_ID:11352779
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15557674
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:2729	D	RGD:9068941	20231005	RGD		protein:decreased expression:liver	PMID:25864381|REF_RGD_ID:401827870
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9006553	Hyperthermia		ISO	RGD:737005	D	RGD:9068941	20211015	CTD		CTD Direct Evidence: therapeutic	PMID:34082047
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9007188	Liver Neoplasms	treatment	ISO	RGD:10681	D	RGD:9068941	20220623	RGD			PMID:26147624|REF_RGD_ID:152995453
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:23750655|REF_RGD_ID:11353785
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12810669
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:SNP: :c.599C>T (rs1050450) (human)	PMID:26950655|REF_RGD_ID:11061784
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:737005	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P198L (human)	PMID:26823947|REF_RGD_ID:11061561
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:22930375|REF_RGD_ID:11352817
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:737005	D	RGD:9068941	20220428	RGD		mRNA:decreased expression:colorectum (human)	PMID:25550558|REF_RGD_ID:152023662
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220428	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:19428376|REF_RGD_ID:152023636
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9261	nasopharynx carcinoma	susceptibility	ISO	RGD:737005	D	RGD:9068941	20220623	RGD		DNA:missense mutation:CDS:p.P198L (human)	PMID:33616746|REF_RGD_ID:152995452
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:2729	D	RGD:9068941	20200609	RGD			PMID:24563435|REF_RGD_ID:11035307
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366|PMID:23795780
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10860543
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:2729	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9538	multiple myeloma		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:8599825|REF_RGD_ID:11352777
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9669	senile cataract		ISO	RGD:10681	D	RGD:9068941	20200609	RGD			PMID:16129095|REF_RGD_ID:10003112
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:24698347|REF_RGD_ID:11352812
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:737005	D	RGD:9068941	20200609	RGD			PMID:17317918|REF_RGD_ID:11352774
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9970	obesity		ISO	RGD:737005	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15184668
12116742	GPX1	glutathione peroxidase 1	gene	DOID:9970	obesity	treatment	ISO	RGD:2729	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:1115	sarcoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:1909	melanoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:3275	thymoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1605124	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:9007456	Female Infertility		ISO	RGD:1552828	D	RGD:9068941	20200609	RGD			PMID:19219058|REF_RGD_ID:9590110
12116748	NASP	nuclear autoantigenic sperm protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605124	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116774	INTS4	integrator complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116774	INTS4	integrator complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116774	INTS4	integrator complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116774	INTS4	integrator complex subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116774	INTS4	integrator complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12116774	INTS4	integrator complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116774	INTS4	integrator complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116774	INTS4	integrator complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116774	INTS4	integrator complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116774	INTS4	integrator complex subunit 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
12116774	INTS4	integrator complex subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:0060058	lymphoma		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:3275	thymoma		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:37	skin disease		ISO	RGD:1354241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:4362	cervical cancer		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1354241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1354241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12116801	UBE2E1	ubiquitin conjugating enzyme E2 E1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:10534	stomach cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:1115	sarcoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:1909	melanoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:3275	thymoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705357
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:4362	cervical cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1314932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1314932	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17143476
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314932	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116810	CHFR	checkpoint with forkhead and ring finger domains	gene	DOID:9256	colorectal cancer		ISO	RGD:1314932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:1612	breast cancer		ISO	RGD:1319644	D	RGD:7240710	20180711	OMIM			
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:1612	breast cancer		ISO	RGD:1319644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, SOMATIC	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:1909	melanoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:3275	thymoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:5419	schizophrenia		ISO	RGD:1319644	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1319644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12116841	RB1CC1	RB1 inducible coiled-coil 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0060911	karyomegalic interstitial nephritis		ISO	RGD:1604829	D	RGD:7240710	20180130	OMIM			
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:0060911	karyomegalic interstitial nephritis		ISO	RGD:1604829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: INTERSTITIAL NEPHRITIS, KARYOMEGALIC | ClinVar Annotator: match by term: Karyomegalic interstitial nephritis	PMID:16199547|PMID:22772369|PMID:25741868|PMID:26052075|PMID:26546047|PMID:28452373|PMID:28492532|PMID:37914484
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:1074	kidney failure		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure	PMID:25741868
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:25741868|PMID:31263571
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604829	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:630	genetic disease		ISO	RGD:1604829	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997|PMID:36938085
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9000363	Hematuria		ISO	RGD:1604829	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: hematuria	PMID:25741868|PMID:28492532
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9004652	Megalocytic Interstitial Nephritis		ISO	RGD:1604829	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22772369
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12116877	FAN1	FANCD2 and FANCI associated nuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604829	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:22561515|PMID:25992589|PMID:26493165|PMID:28492532
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:7240710	20200812	OMIM			
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:0112005	immunodeficiency 70		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 70 | ClinVar Annotator: match by term: Immunodeficiency 70	PMID:25741868|PMID:32499645
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1314824	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:1909	melanoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1314824	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
12116914	IVNS1ABP	influenza virus NS1A binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314824	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116939	GPM6B	glycoprotein M6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116939	GPM6B	glycoprotein M6B	gene	DOID:1909	melanoma		ISO	RGD:1349867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116939	GPM6B	glycoprotein M6B	gene	DOID:4362	cervical cancer		ISO	RGD:1349867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116939	GPM6B	glycoprotein M6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116939	GPM6B	glycoprotein M6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116962	THOC2	THO complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12116962	THOC2	THO complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12116962	THOC2	THO complex subunit 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: dysmorphic features	PMID:25741868
12116962	THOC2	THO complex subunit 2	gene	DOID:0061092	immunodeficiency 127		ISO	RGD:1353819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 127	
12116962	THOC2	THO complex subunit 2	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISO	RGD:1353819	D	RGD:7240710	20180130	OMIM			
12116962	THOC2	THO complex subunit 2	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISO	RGD:1353819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 12 | ClinVar Annotator: match by term: THOC2-related condition | ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome	PMID:25741868|PMID:26166480|PMID:28492532|PMID:29851191|PMID:32116545|PMID:32960281
12116962	THOC2	THO complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12116962	THOC2	THO complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1353819	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12116962	THOC2	THO complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12116962	THOC2	THO complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12116962	THOC2	THO complex subunit 2	gene	DOID:13994	cleidocranial dysplasia		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Large fontanelles	
12116962	THOC2	THO complex subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:25741868
12116962	THOC2	THO complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12116962	THOC2	THO complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12116962	THOC2	THO complex subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12116962	THOC2	THO complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12116962	THOC2	THO complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12116962	THOC2	THO complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12116962	THOC2	THO complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12116962	THOC2	THO complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1353819	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29851191|PMID:32116545|PMID:32960281
12116962	THOC2	THO complex subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353819	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12116962	THOC2	THO complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12116962	THOC2	THO complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12116962	THOC2	THO complex subunit 2	gene	DOID:9009090	arthrogryposis multiplex congenita-7, X-linked		ISO	RGD:1353819	D	RGD:7240710	20241023	OMIM			
12116962	THOC2	THO complex subunit 2	gene	DOID:9009090	arthrogryposis multiplex congenita-7, X-linked		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 7, X-linked	PMID:25741868|PMID:34976470
12116962	THOC2	THO complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12116962	THOC2	THO complex subunit 2	gene	DOID:9970	obesity		ISO	RGD:1353819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:1312825	D	RGD:7240710	20180130	OMIM			
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblA TYPE | ClinVar Annotator: match by term: Methylmalonic acidemia cblA type | ClinVar Annotator: match by term: Methylmalonic aciduria cblA type | ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type	PMID:12438653|PMID:15308131|PMID:15523652|PMID:15781192|PMID:16199547|PMID:16247646|PMID:17576681|PMID:17728257|PMID:17957493|PMID:19375370|PMID:20549364|PMID:21048060|PMID:21114891|PMID:21545677|PMID:22614770|PMID:22661206|PMID:23026888|PMID:23711287|PMID:23716945|PMID:24033266|PMID:24059531|PMID:25525159|PMID:25636100|PMID:25741868|PMID:25748407|PMID:25959030|PMID:26270765|PMID:27858373|PMID:28468868|PMID:28492532|PMID:28497574|PMID:29996803|PMID:30904546|PMID:31139930|PMID:31497484|PMID:31622506|PMID:32034731|PMID:32754920|PMID:33029243|PMID:33453710|PMID:33726816|PMID:34915869|PMID:35618652|PMID:38651393|PMID:39494389|PMID:40762225|PMID:9536098
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:10907	microcephaly		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:1324	lung cancer		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Methylmalonic acidemia	PMID:25741868|PMID:28492532|PMID:28497574|PMID:32754920
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:1909	melanoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:630	genetic disease		ISO	RGD:1312825	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:83	cataract		ISO	RGD:1312825	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:28492532
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hepatomegaly	PMID:15523652|PMID:15781192|PMID:25741868|PMID:27591164|PMID:28492532|PMID:28497574
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1312825	D	RGD:9068941	20200609	RGD		methylmalonic aciduria, OMIM:251100	PMID:15523652|REF_RGD_ID:1600803
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:9006731	Hyperlactatemia		ISO	RGD:1312825	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: hyperlactatemia	PMID:25741868
12117021	MMAA	metabolism of cobalamin associated A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:10534	stomach cancer		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:6039	uveal melanoma		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117049	KIAA1549L	KIAA1549 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117089	LHFPL4	LHFPL tetraspan subfamily member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117096	MIDN	midnolin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117096	MIDN	midnolin	gene	DOID:10534	stomach cancer		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117096	MIDN	midnolin	gene	DOID:1115	sarcoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117096	MIDN	midnolin	gene	DOID:1909	melanoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117096	MIDN	midnolin	gene	DOID:2843	long QT syndrome		ISO	RGD:1320070	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
12117096	MIDN	midnolin	gene	DOID:3275	thymoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117096	MIDN	midnolin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320070	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117096	MIDN	midnolin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117096	MIDN	midnolin	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12117096	MIDN	midnolin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320070	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0080573	congenital disorder of glycosylation Ix		ISO	RGD:1606939	D	RGD:7240710	20180130	OMIM			
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:0080573	congenital disorder of glycosylation Ix		ISO	RGD:1606939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1x	PMID:25741868|PMID:28492532
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:2030	anxiety disorder		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117122	STT3B	STT3 oligosaccharyltransferase complex catalytic subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117142	RNF17	ring finger protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117142	RNF17	ring finger protein 17	gene	DOID:10534	stomach cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117142	RNF17	ring finger protein 17	gene	DOID:1115	sarcoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117142	RNF17	ring finger protein 17	gene	DOID:1324	lung cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117142	RNF17	ring finger protein 17	gene	DOID:1909	melanoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117142	RNF17	ring finger protein 17	gene	DOID:4362	cervical cancer		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117142	RNF17	ring finger protein 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12117142	RNF17	ring finger protein 17	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321415	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117142	RNF17	ring finger protein 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117179	ANHX	anomalous homeobox	gene	DOID:5041	esophageal cancer		ISO	RGD:6483645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117192	SP3	Sp3 transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117192	SP3	Sp3 transcription factor	gene	DOID:0060058	lymphoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12117192	SP3	Sp3 transcription factor	gene	DOID:1115	sarcoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117192	SP3	Sp3 transcription factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1319818	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117192	SP3	Sp3 transcription factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12117192	SP3	Sp3 transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117192	SP3	Sp3 transcription factor	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12117192	SP3	Sp3 transcription factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117192	SP3	Sp3 transcription factor	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868
12117192	SP3	Sp3 transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319818	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117203	KIF7	kinesin family member 7	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1343265	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:0050779	hydrolethalus syndrome		ISO	RGD:1321141	D	RGD:9068941	20220825	MouseDO		OMIM:236680 | OMIM:614120	
12117203	KIF7	kinesin family member 7	gene	DOID:0050779	hydrolethalus syndrome		ISO	RGD:1343265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552264
12117203	KIF7	kinesin family member 7	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117203	KIF7	kinesin family member 7	gene	DOID:0060250	idiopathic scoliosis		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADOLESCENT ISOLATED SCOLIOSIS	PMID:21552264|PMID:25741868|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:0060260	ptosis		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:0060313	tracheomalacia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:0060340	ciliopathy		ISO	RGD:1321141	D	RGD:9068941	20220825	MouseDO			
12117203	KIF7	kinesin family member 7	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
12117203	KIF7	kinesin family member 7	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
12117203	KIF7	kinesin family member 7	gene	DOID:0111355	hydrolethalus syndrome 1		ISO	RGD:1343265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12117203	KIF7	kinesin family member 7	gene	DOID:0111356	hydrolethalus syndrome 2		ISO	RGD:1343265	D	RGD:7240710	20180130	OMIM			
12117203	KIF7	kinesin family member 7	gene	DOID:0111356	hydrolethalus syndrome 2		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrolethalus syndrome 2	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117203	KIF7	kinesin family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1343265	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29343940|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:10908	hydrocephalus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic ovaries	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:12336	male infertility		ISO	RGD:1343265	D	RGD:8554872	20240528	ClinVar		ClinVar Annotator: match by term: Male infertility due to gonadal dysgenesis or sperm disorder	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:12712	nephronophthisis		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
12117203	KIF7	kinesin family member 7	gene	DOID:12849	autistic disorder		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21552264|PMID:25741868|PMID:28492532|PMID:29343940
12117203	KIF7	kinesin family member 7	gene	DOID:13620	patent foramen ovale		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:1826	epilepsy		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:2234	focal epilepsy		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:3275	thymoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117203	KIF7	kinesin family member 7	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1310310	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:diaphragmatic mesenchyme, pulmonary mesenchyme;	PMID:25921351|REF_RGD_ID:11553839
12117203	KIF7	kinesin family member 7	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1321141	D	RGD:9068941	20220825	MouseDO		OMIM:142340 | OMIM:222400 | OMIM:610187	
12117203	KIF7	kinesin family member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117203	KIF7	kinesin family member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1343265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:540	strabismus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:630	genetic disease		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26648833|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:674	cleft palate		ISO	RGD:1343265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552264
12117203	KIF7	kinesin family member 7	gene	DOID:9000923	Joubert Syndrome 12		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 12 | ClinVar Annotator: match by term: Joubert syndrome 12	PMID:25741868|PMID:26174511|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:9001875	Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency		ISO	RGD:1343265	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short-limb skeletal dysplasia with severe combined immunodeficiency	PMID:25741868
12117203	KIF7	kinesin family member 7	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies		ISO	RGD:1343265	D	RGD:7240710	20190315	OMIM			
12117203	KIF7	kinesin family member 7	gene	DOID:9003677	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies		ISO	RGD:1343265	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly with multiple epiphyseal dysplasia and distinctive facies	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25131622|PMID:25741868|PMID:26174511|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:9003816	Macrocephaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:9004327	Colpocephaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:9004866	Ataxia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:19666503|PMID:21552264|PMID:21633164|PMID:23125460|PMID:25741868|PMID:26092869|PMID:26648833|PMID:27081521|PMID:28492532|PMID:29620724
12117203	KIF7	kinesin family member 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16199547|PMID:19666503|PMID:21552264|PMID:21633164|PMID:25741868|PMID:26648833|PMID:27081521|PMID:28492532
12117203	KIF7	kinesin family member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117203	KIF7	kinesin family member 7	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:29286531
12117203	KIF7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:7240710	20180130	OMIM			
12117203	KIF7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM | ClinVar Annotator: match by term: Joubert syndrome 12/15, digenic | ClinVar Annotator: match by term: Schinzel syndrome 1	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22246503|PMID:22587682|PMID:23125460|PMID:24033266|PMID:24339784|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29915382|PMID:30315573|PMID:31399769|PMID:32055034|PMID:32164589|PMID:32738303|PMID:33382518|PMID:34489640|PMID:35770050|PMID:36474027|PMID:36653407|PMID:9536098
12117203	KIF7	kinesin family member 7	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1343265	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACROCALLOSAL SYNDROME | ClinVar Annotator: match by term: Acrocallosal syndrome | ClinVar Annotator: match by term: Schinzel syndrome 1 | ClinVar Annotator: match by term: acrocallosal syndrome	PMID:16199547|PMID:17576681|PMID:19666503|PMID:21552264|PMID:21633164|PMID:22587682|PMID:23125460|PMID:24033266|PMID:25131622|PMID:25640679|PMID:25741868|PMID:26092869|PMID:26174511|PMID:26349186|PMID:26633542|PMID:26648833|PMID:27081521|PMID:28492532|PMID:28497568|PMID:28805617|PMID:29286531|PMID:29321670|PMID:29343940|PMID:29620724|PMID:30315573|PMID:31399769|PMID:32055034|PMID:32164589|PMID:32552793|PMID:32738303|PMID:9536098
12117203	KIF7	kinesin family member 7	gene	DOID:9296	cleft lip		ISO	RGD:1343265	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:rs4932238,rs4932240(human)	PMID:26602496|REF_RGD_ID:11553833
12117203	KIF7	kinesin family member 7	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1343265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532|PMID:29286531
12117232	WFIKKN1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117232	WFIKKN1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117232	WFIKKN1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12117232	WFIKKN1	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342711	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:0070400	hypomyelinating leukodystrophy 19		ISO	RGD:1605419	D	RGD:7240710	20191225	OMIM			
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:0070400	hypomyelinating leukodystrophy 19		ISO	RGD:1605419	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE | ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 19, transient infantile | ClinVar Annotator: match by term: TMEM63A-related condition	PMID:25741868|PMID:30382939|PMID:31587869|PMID:34598833
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:10534	stomach cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:1115	sarcoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:1324	lung cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:1909	melanoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:4362	cervical cancer		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:5041	esophageal cancer		ISO	RGD:1605419	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:5723	optic atrophy		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:31587869
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:630	genetic disease		ISO	RGD:1605419	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1605419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:9000918	Disease Progression		ISO	RGD:1605419	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117238	TMEM63A	transmembrane protein 63A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:0111243	acromicric dysplasia		ISO	RGD:1343515	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Geleophysic dwarfism	PMID:24014090|PMID:25741868|PMID:26879370|PMID:33369194|PMID:36474027
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:0111725	geleophysic dysplasia 1		ISO	RGD:1343515	D	RGD:7240710	20180130	OMIM			
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:0111725	geleophysic dysplasia 1		ISO	RGD:1343515	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ADAMTSL2-related condition | ClinVar Annotator: match by term: GELEOPHYSIC DYSPLASIA 1 | ClinVar Annotator: match by term: Geleophysic dysplasia 1 | ClinVar Annotator: match by term: geleophysic dysplasia 1	PMID:18677313|PMID:20301776|PMID:21415077|PMID:25741868|PMID:26879370|PMID:33369194|PMID:35903967|PMID:36474027|PMID:38300707
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:1875	impotence		ISO	RGD:1550215	D	RGD:9068941	20240801	MouseDO			
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:3627	aortic aneurysm		ISO	RGD:1343515	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:26879370|PMID:33369194|PMID:35903967
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:4079	heart valve disease		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:630	genetic disease		ISO	RGD:1343515	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9001487	Facies		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9003299	Short Limb Dwarfism Al Gazali Type		ISO	RGD:1343515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethal short-limb skeletal dysplasia, Al Gazali type	PMID:25741868
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9004585	GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES		IAGP		D	RGD:12801476	20260702	OMIA		Geleophysic dysplasia, ADMATSL2-related	PMID:20862248|PMID:34861369|PMID:28158899|PMID:42324135
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117271	ADAMTSL2	ADAMTS like 2	gene	DOID:9006836	Contracture		ISO	RGD:1343515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18677313
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1354195	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:35351988
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354195	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117298	LRCH2	leucine rich repeats and calponin homology domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603055	D	RGD:9068941	20260115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12117333	C21H11orf54	chromosome 21 C11orf54 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117351	FAM174B	family with sequence similarity 174 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117351	FAM174B	family with sequence similarity 174 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1606862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117351	FAM174B	family with sequence similarity 174 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117351	FAM174B	family with sequence similarity 174 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117351	FAM174B	family with sequence similarity 174 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:0080001	bone disease		ISO	RGD:1347343	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disorder of bone	PMID:25741868|PMID:28492532
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:0080011	bone resorption disease		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26319416
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:0110943	autosomal recessive osteopetrosis 2		ISO	RGD:1347343	D	RGD:7240710	20180130	OMIM			
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:0110943	autosomal recessive osteopetrosis 2		ISO	RGD:1347343	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: OSTEOPETROSIS, MILD AUTOSOMAL RECESSIVE FORM | ClinVar Annotator: match by term: TNFSF11-related condition	PMID:23762088|PMID:25741868|PMID:28492532
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17882678
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1347343	D	RGD:9068941	20200609	RGD			PMID:17002564|REF_RGD_ID:1625350
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:11476	osteoporosis		ISO	RGD:1551655	D	RGD:9068941	20240425	MouseDO		OMIM:166710	
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:12678	hypercalcemia		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15845617
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:12800	mucopolysaccharidosis VI	treatment	ISO	RGD:620784	D	RGD:9068941	20210514	RGD			PMID:21887218|REF_RGD_ID:39131283
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:13533	osteopetrosis		ISO	RGD:1347343	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632511
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:5844	myocardial infarction		ISO	RGD:1347343	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18298349|REF_RGD_ID:2302363
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:630	genetic disease		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:820	myocarditis		ISO	RGD:620784	D	RGD:9068941	20200609	RGD		associated with Autoimmune Diseases;mRNA:increased expression:heart myocardium	PMID:18417124|REF_RGD_ID:2302361
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9000927	Alveolar Bone Loss		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19249596
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:620784	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20731768
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9001547	Tibial Fractures		ISO	RGD:620784	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18592139|REF_RGD_ID:2302324
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16270354
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9006081	Osteolysis		ISO	RGD:1347343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18606716
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117362	TNFSF11	TNF superfamily member 11	gene	DOID:9744	type 1 diabetes mellitus	treatment	ISO	RGD:620784	D	RGD:9068941	20250320	RGD			PMID:31096652|REF_RGD_ID:598092496
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1605227	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0050817	Stargardt disease		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:27428514
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0110864	congenital stationary night blindness 1F		ISO	RGD:1605227	D	RGD:7240710	20180130	OMIM			
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:0110864	congenital stationary night blindness 1F		ISO	RGD:1605227	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F | ClinVar Annotator: match by term: LRIT3-related condition | ClinVar Annotator: match by term: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F	PMID:23246293|PMID:24598786|PMID:25741868|PMID:28492532|PMID:32483926
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:5723	optic atrophy		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:630	genetic disease		ISO	RGD:1605227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12117370	LRIT3	leucine rich repeat, Ig-like and transmembrane domains 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605227	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:0081142	agammaglobulinemia 10		ISO	RGD:1344411	D	RGD:7240710	20220202	OMIM			
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:0081142	agammaglobulinemia 10		ISO	RGD:1344411	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL DOMINANT, DUE TO SPI1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 10, autosomal dominant	PMID:25741868|PMID:33951726
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:1574	alcohol use disorder		ISO	RGD:1359607	D	RGD:9068941	20200609	RGD		protein:decreased expression:alveolar macrophage	PMID:16272341|REF_RGD_ID:9586723
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:1359607	D	RGD:9068941	20200609	RGD			PMID:21447000|REF_RGD_ID:9586725
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:1909	melanoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1344411	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Agammaglobulinemia	PMID:25741868|PMID:33951726
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:5041	esophageal cancer		ISO	RGD:1344411	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1344411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28671687
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:8692	myeloid leukemia		ISO	RGD:1344411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17361223
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1359607	D	RGD:9068941	20200609	RGD		protein:increased expression:CA1 field of hippocampus	PMID:10713349|REF_RGD_ID:9586724
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1359607	D	RGD:9068941	20200609	RGD			PMID:24282365|REF_RGD_ID:9586451
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26237430
12117378	SPI1	Spi-1 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1553307	D	RGD:9068941	20220825	MouseDO		OMIM:601626	
12117391	KISS1R	KISS1 receptor	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12117391	KISS1R	KISS1 receptor	gene	DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia		ISO	RGD:731975	D	RGD:7240710	20180130	OMIM			
12117391	KISS1R	KISS1 receptor	gene	DOID:0090074	hypogonadotropic hypogonadism 8 with or without anosmia		ISO	RGD:731975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 with or without anosmia | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 8 without anosmia	PMID:23643382|PMID:25741868|PMID:28492532
12117391	KISS1R	KISS1 receptor	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:731975	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12117391	KISS1R	KISS1 receptor	gene	DOID:0112310	central precocious puberty 1		ISO	RGD:731975	D	RGD:7240710	20180130	OMIM			
12117391	KISS1R	KISS1 receptor	gene	DOID:0112310	central precocious puberty 1		ISO	RGD:731975	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Central precocious puberty 1 | ClinVar Annotator: match by term: KISS1R-related condition	PMID:14573733|PMID:17700012|PMID:23349759|PMID:25741868|PMID:26199944|PMID:28492532|PMID:31073722|PMID:32171629|PMID:35729303|PMID:36123965
12117391	KISS1R	KISS1 receptor	gene	DOID:1612	breast cancer	severity	ISO	RGD:731975	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:high levels of both KISS1 and KISS1R in ERalpha+ tumors treated with tamoxifen associated with shorter relapse-free survival	PMID:17914099|REF_RGD_ID:2292123
12117391	KISS1R	KISS1 receptor	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12117391	KISS1R	KISS1 receptor	gene	DOID:1924	hypogonadism		ISO	RGD:731975	D	RGD:9068941	20250116	RGD		Hypogonadotropic hypogonadism, OMIM:146110   DNA:deletion:exon:155-bp deletion of the intron4/exon5 splice acceptor site and part of exon 5	PMID:12944565|REF_RGD_ID:1599279
12117391	KISS1R	KISS1 receptor	gene	DOID:2671	transitional cell carcinoma	severity	ISO	RGD:731975	D	RGD:9068941	20200609	RGD		urinary bladder TCC; mRNA:increased expression:tumor:versus normal bladder, with significantly higher expression in high-grade vs low-grade tumors (p=0.03)	PMID:17164231|REF_RGD_ID:2292127
12117391	KISS1R	KISS1 receptor	gene	DOID:3113	papillary carcinoma		ISO	RGD:731975	D	RGD:9068941	20200609	RGD			PMID:11994395|REF_RGD_ID:1599280
12117391	KISS1R	KISS1 receptor	gene	DOID:630	genetic disease		ISO	RGD:731975	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12117391	KISS1R	KISS1 receptor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12117391	KISS1R	KISS1 receptor	gene	DOID:9001239	Delayed Puberty		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21527035
12117391	KISS1R	KISS1 receptor	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:731975	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
12117391	KISS1R	KISS1 receptor	gene	DOID:9007284	Precocious Puberty		ISO	RGD:731975	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	
12117391	KISS1R	KISS1 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117400	PRCD	photoreceptor disc component	gene	DOID:0110405	retinitis pigmentosa 36		IAGP		D	RGD:12801476	20260514	OMIA		Progressive rod-cone degeneration, PRCD-related	PMID:2309782|PMID:8603863|PMID:3164273|PMID:9501213|PMID:9589581|PMID:9634355|PMID:9716659|PMID:9820795|PMID:10235557|PMID:16938425|PMID:19737766|PMID:16859891|PMID:22065099|PMID:6215376|PMID:12620391|PMID:24581223|PMID:26120276|PMID:27509380|PMID:30650096|PMID:31640229|PMID:31628458|PMID:26549343|PMID:31884666|PMID:31189593|PMID:28855430|PMID:35588783|PMID:36325094|PMID:36427679|PMID:36848350|PMID:37440062|PMID:37582787|PMID:38028226|PMID:38003037|PMID:38334230|PMID:42107853
12117400	PRCD	photoreceptor disc component	gene	DOID:0110405	retinitis pigmentosa 36		ISO	RGD:1603415	D	RGD:7240710	20180130	OMIM			
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1350418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:0112269	primary ovarian insufficiency 18		ISO	RGD:1350418	D	RGD:7240710	20210303	OMIM			
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:0112269	primary ovarian insufficiency 18		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: C14orf39-related disorder | ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 18 | ClinVar Annotator: match by term: Premature ovarian failure 18	PMID:25741868
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:1350418	D	RGD:7240710	20210303	OMIM			
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:0112270	spermatogenic failure 52		ISO	RGD:1350418	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 52 | ClinVar Annotator: match by term: Spermatogenic failure 52	PMID:25741868
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:3275	thymoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1350418	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inherited primary ovarian failure	PMID:25741868
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117408	C8H14orf39	chromosome 8 C14orf39 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117438	TNFRSF17	TNF receptor superfamily member 17	gene	DOID:0080600	COVID-19		ISO	RGD:1312303	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12117438	TNFRSF17	TNF receptor superfamily member 17	gene	DOID:1520	colon carcinoma		ISO	RGD:1312303	D	RGD:9068941	20200609	RGD			PMID:11104810|REF_RGD_ID:2317311
12117438	TNFRSF17	TNF receptor superfamily member 17	gene	DOID:9538	multiple myeloma		ISO	RGD:1312303	D	RGD:9068941	20200609	RGD			PMID:15692072|REF_RGD_ID:2317306
12117446	LUZP4	leucine zipper protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117446	LUZP4	leucine zipper protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117454	CEBPG	CCAAT enhancer binding protein gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117454	CEBPG	CCAAT enhancer binding protein gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117454	CEBPG	CCAAT enhancer binding protein gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117460	PXDN	peroxidasin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117460	PXDN	peroxidasin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117460	PXDN	peroxidasin	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1607083	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:25741868|PMID:26694549|PMID:28492532|PMID:32499604
12117460	PXDN	peroxidasin	gene	DOID:0080612	anterior segment dysgenesis 7		ISO	RGD:1607083	D	RGD:7240710	20180130	OMIM			
12117460	PXDN	peroxidasin	gene	DOID:0080612	anterior segment dysgenesis 7		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 7 | ClinVar Annotator: match by term: Anterior segment dysgenesis 7 | ClinVar Annotator: match by term: SCLEROCORNEA WITH OTHER OCULAR ANOMALIES	PMID:17576681|PMID:21474777|PMID:21907015|PMID:24939590|PMID:25741868|PMID:26694549|PMID:28492532|PMID:32499604|PMID:37644014|PMID:9536098
12117460	PXDN	peroxidasin	gene	DOID:10534	stomach cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12117460	PXDN	peroxidasin	gene	DOID:1324	lung cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117460	PXDN	peroxidasin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12117460	PXDN	peroxidasin	gene	DOID:4362	cervical cancer		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117460	PXDN	peroxidasin	gene	DOID:5041	esophageal cancer		ISO	RGD:1607083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117460	PXDN	peroxidasin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117460	PXDN	peroxidasin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117460	PXDN	peroxidasin	gene	DOID:630	genetic disease		ISO	RGD:1607083	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12117460	PXDN	peroxidasin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1607083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12117460	PXDN	peroxidasin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117460	PXDN	peroxidasin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117460	PXDN	peroxidasin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:27993330
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:22820256|PMID:25030029|PMID:27993330
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:22820256|PMID:25030029|PMID:27993330
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317604	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:1909	melanoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:3275	thymoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317604	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117499	GPS2	G protein pathway suppressor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317604	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117539	SYCE1L	synaptonemal complex central element protein 1 like	gene	DOID:3275	thymoma		ISO	RGD:2902459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117539	SYCE1L	synaptonemal complex central element protein 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:2902459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117539	SYCE1L	synaptonemal complex central element protein 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117539	SYCE1L	synaptonemal complex central element protein 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117539	SYCE1L	synaptonemal complex central element protein 1 like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2902459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342919	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:1115	sarcoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:1324	lung cancer		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:1909	melanoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:4362	cervical cancer		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1342919	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117561	SCAF8	SR-related CTD associated factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:1059	intellectual disability		ISO	RGD:1321699	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321699	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321699	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23811263
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:7240710	20230531	OMIM			
12117646	TPR	translocated promoter region, nuclear basket protein	gene	DOID:9004637	Autosomal Recessive Intellectual Developmental Disorder 79		ISO	RGD:1321699	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 79	PMID:25741868
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:0110057	amelogenesis imperfecta type 2A1		ISO	RGD:1353266	D	RGD:7240710	20180130	OMIM			
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:0110057	amelogenesis imperfecta type 2A1		ISO	RGD:1353266	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1 | ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 | ClinVar Annotator: match by term: KLK4-related condition	PMID:25741868
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1353266	D	RGD:9068941	20200609	RGD			PMID:12370833|REF_RGD_ID:2314857
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:10283	prostate cancer		ISO	RGD:1353266	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:17545602|REF_RGD_ID:2314854
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1353266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1353266	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:breast	PMID:18687310|REF_RGD_ID:2314853
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:1612	breast cancer	severity	ISO	RGD:1353266	D	RGD:9068941	20200609	RGD			PMID:19190825|REF_RGD_ID:2314852
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1353266	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: amelogenesis imperfecta	
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:1353266	D	RGD:9068941	20200609	RGD			PMID:15262123|REF_RGD_ID:2314856
12117701	KLK4	kallikrein related peptidase 4	gene	DOID:630	genetic disease		ISO	RGD:1353266	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12117728	SPX	spexin hormone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117728	SPX	spexin hormone	gene	DOID:0060180	colitis		ISO	RGD:1606773	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40320895
12117728	SPX	spexin hormone	gene	DOID:10534	stomach cancer		ISO	RGD:1606773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117728	SPX	spexin hormone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117728	SPX	spexin hormone	gene	DOID:1324	lung cancer		ISO	RGD:1606773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117728	SPX	spexin hormone	gene	DOID:9000197	Edema		ISO	RGD:1606773	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: therapeutic	PMID:40320895
12117748	TMEM245	transmembrane protein 245	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:10534	stomach cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117748	TMEM245	transmembrane protein 245	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117748	TMEM245	transmembrane protein 245	gene	DOID:1324	lung cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117748	TMEM245	transmembrane protein 245	gene	DOID:1909	melanoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:3275	thymoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:4362	cervical cancer		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117748	TMEM245	transmembrane protein 245	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12117748	TMEM245	transmembrane protein 245	gene	DOID:5041	esophageal cancer		ISO	RGD:1319034	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117748	TMEM245	transmembrane protein 245	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117748	TMEM245	transmembrane protein 245	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117748	TMEM245	transmembrane protein 245	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117748	TMEM245	transmembrane protein 245	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1318061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:0110390	retinitis pigmentosa 1		ISO	RGD:1318061	D	RGD:7240710	20180130	OMIM			
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:0110390	retinitis pigmentosa 1		ISO	RGD:1318061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 1 | ClinVar Annotator: match by term: RP1-related condition | ClinVar Annotator: match by term: RP1-related recessive retinopathy | ClinVar Annotator: match by term: RP1-related retinal dystrophy | ClinVar Annotator: match by term: Retinitis pigmentosa 1	PMID:10391211|PMID:10391212|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:11960024|PMID:15183808|PMID:15994872|PMID:19933189|PMID:22052604|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25494902|PMID:25692139|PMID:25741868|PMID:25883087|PMID:27623337|PMID:28041643|PMID:28418496|PMID:28492532|PMID:29425069|PMID:29641573|PMID:29785639|PMID:30027431|PMID:30029497|PMID:30897647|PMID:30902645|PMID:30913292|PMID:31054281|PMID:31253780|PMID:31456290|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32565670|PMID:32587456|PMID:33090715|PMID:33546218|PMID:33681214|PMID:33691693|PMID:33946315|PMID:34073704|PMID:34183725|PMID:34721897|PMID:36284460|PMID:36819107|PMID:38219857|PMID:40724865
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23105016|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30913292|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:33546218|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34906470|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15183808|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34906470|PMID:36909829|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:12764676|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34906470|PMID:36909829|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29625443|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30280194|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31054281|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31589614|PMID:31833436|PMID:31964843|PMID:31980526|PMID:32005865|PMID:32037395|PMID:32411380|PMID:3253185|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:34183725|PMID:34315337|PMID:34426522|PMID:34721897|PMID:34906470|PMID:35272565|PMID:36284460|PMID:36819107|PMID:36909829|PMID:38927702|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11317367|PMID:11527933|PMID:11694261|PMID:12764676|PMID:15563892|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17386157|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:21959974|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24033266|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25472526|PMID:25494902|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:27623337|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28855170|PMID:29068140|PMID:29425069|PMID:29625443|PMID:29785639|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30280194|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31054281|PMID:31079053|PMID:31253780|PMID:31456290|PMID:31589614|PMID:31833436|PMID:31964843|PMID:31980526|PMID:32005865|PMID:32037395|PMID:32380161|PMID:32411380|PMID:3253185|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33090715|PMID:33546218|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:34183725|PMID:34315337|PMID:34426522|PMID:34721897|PMID:34906470|PMID:35272565|PMID:36284460|PMID:36819107|PMID:36909829|PMID:38927702|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:10845615|PMID:11095597|PMID:11139241|PMID:11527933|PMID:12764676|PMID:15863674|PMID:15994872|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:20664799|PMID:21147909|PMID:22052604|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:23950152|PMID:24265693|PMID:24339724|PMID:25088982|PMID:25097241|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:27391102|PMID:28041643|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29625443|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30280194|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31456290|PMID:31589614|PMID:31833436|PMID:31964843|PMID:32005865|PMID:32037395|PMID:32411380|PMID:3253185|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33546218|PMID:33576794|PMID:33681214|PMID:34315337|PMID:34426522|PMID:34906470|PMID:35272565|PMID:36284460|PMID:36819107|PMID:36909829|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1318061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10484783|PMID:11139241|PMID:11527933|PMID:16597330|PMID:17576681|PMID:19933189|PMID:19956407|PMID:22317909|PMID:22334370|PMID:22917891|PMID:23077400|PMID:23105016|PMID:24265693|PMID:25097241|PMID:25692139|PMID:25741868|PMID:26306921|PMID:26355662|PMID:26497376|PMID:28041643|PMID:28492532|PMID:29425069|PMID:29912909|PMID:30027431|PMID:30054919|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30902645|PMID:30913292|PMID:31079053|PMID:31456290|PMID:31833436|PMID:32005865|PMID:32037395|PMID:32531858|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33576794|PMID:33681214|PMID:34906470|PMID:35272565|PMID:36909829|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:1909	melanoma		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:319	spinal cord disease		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelopathy	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:5679	retinal disease		ISO	RGD:1318061	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11095597|PMID:11527933|PMID:19933189|PMID:25741868|PMID:27391102|PMID:28041643|PMID:28492532|PMID:29099798|PMID:29425069|PMID:30027431|PMID:33546218|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:5723	optic atrophy		ISO	RGD:1318061	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:18791550|PMID:25741868|PMID:28492532
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:630	genetic disease		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11527933|PMID:19933189|PMID:25741868|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1318061	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	PMID:28492532
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11139241|PMID:11527933|PMID:15863674|PMID:15994872|PMID:17576681|PMID:19933189|PMID:20664799|PMID:22052604|PMID:22334370|PMID:22917891|PMID:23991373|PMID:24265693|PMID:24339724|PMID:24938718|PMID:25088982|PMID:25097241|PMID:25494902|PMID:25698705|PMID:25741868|PMID:27160483|PMID:27208204|PMID:27307693|PMID:27639823|PMID:28041643|PMID:28076437|PMID:28224992|PMID:28492532|PMID:29068140|PMID:29425069|PMID:29625443|PMID:29641573|PMID:30027431|PMID:30280194|PMID:30337596|PMID:30718709|PMID:30731082|PMID:30913292|PMID:31213501|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32005865|PMID:32037395|PMID:32100970|PMID:32193659|PMID:32411380|PMID:3253185|PMID:32531858|PMID:32562694|PMID:32565670|PMID:32581362|PMID:32783370|PMID:33090715|PMID:33576794|PMID:33681214|PMID:33691693|PMID:33946315|PMID:34073704|PMID:34315337|PMID:34426522|PMID:34721897|PMID:34906470|PMID:36284460|PMID:36819107|PMID:37734845|PMID:38219857|PMID:38816995|PMID:39463394|PMID:9536098
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117771	RP1	RP1 axonemal microtubule associated	gene	DOID:9008675	Dyskinesias		ISO	RGD:1318061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:11527933|PMID:19933189|PMID:27160483|PMID:27208204|PMID:28492532|PMID:29425069|PMID:30027431|PMID:30731082|PMID:33681214
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1346733	D	RGD:7240710	20180130	OMIM			
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:0050716	methylmalonic aciduria and homocystinuria type cblD		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblD | ClinVar Annotator: match by term: Methylmalonic aciduria with homocystinuria cblD type	PMID:16199547|PMID:17576681|PMID:18385497|PMID:19058814|PMID:22156578|PMID:24033266|PMID:24722857|PMID:25155779|PMID:25741868|PMID:27252276|PMID:28492532|PMID:28939051|PMID:29620684|PMID:30041674|PMID:30097992|PMID:32252256|PMID:33552904|PMID:39494389|PMID:9536098
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:12450	pancytopenia		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:1909	melanoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:2355	anemia		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:4362	cervical cancer		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:630	genetic disease		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:25741868|PMID:28492532
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9009058	methylmalonic acidemia cblD type		ISO	RGD:1346733	D	RGD:7240710	20241009	OMIM			
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9009058	methylmalonic acidemia cblD type		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METHYLMALONIC ACIDURIA, cblD TYPE	PMID:25741868
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9009229	Homocystinuria-megaloblastic anemia cblD type		ISO	RGD:1346733	D	RGD:7240710	20241009	OMIM			
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9009229	Homocystinuria-megaloblastic anemia cblD type		ISO	RGD:1346733	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblD TYPE	
12117782	MMADHC	metabolism of cobalamin associated D	gene	DOID:9263	homocystinuria		ISO	RGD:1346733	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: homocystinuria	PMID:18385497|PMID:22156578|PMID:25155779|PMID:25741868|PMID:28492532
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:10534	stomach cancer		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1316051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316051	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1316051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1316051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316051	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316051	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117793	ELP3	elongator acetyltransferase complex subunit 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1316051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323612	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:7240710	20180130	OMIM			
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:0050833	orotic aciduria		ISO	RGD:1323612	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary orotic aciduria | ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1 | ClinVar Annotator: match by term: OROTIC ACIDURIA | ClinVar Annotator: match by term: Orotic aciduria | ClinVar Annotator: match by term: Oroticaciduria 1 | ClinVar Annotator: match by term: UMPS-related condition	PMID:16199547|PMID:25741868|PMID:25757096|PMID:28205048|PMID:28263315|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:0080916	erythroleukemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:10923	sickle cell anemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:10965	spastic diplegia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:12241	beta thalassemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:1826	epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:630	genetic disease		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:653	purine-pyrimidine metabolic disorder		ISO	RGD:1323612	D	RGD:9068941	20200609	RGD		orotic aciduria	PMID:9042911|REF_RGD_ID:1599702
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18230555
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16912530|PMID:17089033|PMID:18652704
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15999119|PMID:19082440
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18652704
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9004507	Hirsutism		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1311908	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:3907307|REF_RGD_ID:5132278
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1311908	D	RGD:9068941	20200609	RGD		protein:decreased activity:mammary gland (rat)	PMID:1476792|REF_RGD_ID:5132591
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1323612	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs2279199|rs4678145 (human)	PMID:28347776|REF_RGD_ID:152995291
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16757204
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9008120	Orotic Aciduria II		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orotidylic decarboxylase deficiency	PMID:25741868|PMID:28492532
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641|PMID:19020767
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1323612	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767|PMID:19151563
12117812	UMPS	uridine monophosphate synthetase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:10534	stomach cancer		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:3070	high grade glioma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:3275	thymoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117822	FAM193B	family with sequence similarity 193 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:1115	sarcoma		ISO	RGD:1606448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:3070	high grade glioma		ISO	RGD:1606448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12117856	SAMD13	sterile alpha motif domain containing 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1606448	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117901	ETV3	ETS variant transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117901	ETV3	ETS variant transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117901	ETV3	ETS variant transcription factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1348851	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12117901	ETV3	ETS variant transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117901	ETV3	ETS variant transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:0050685	small cell carcinoma		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:14517837|REF_RGD_ID:727214
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:prostate gland	PMID:14517837|REF_RGD_ID:727214
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:731989	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18325051|REF_RGD_ID:2291868
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:731989	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:14517837|REF_RGD_ID:727214
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:1612	breast cancer		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:16501252|REF_RGD_ID:2291871
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:2154	nephroblastoma		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:16575872|REF_RGD_ID:2291870
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:731989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1552191	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:16488995|REF_RGD_ID:1643593
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:14517837|REF_RGD_ID:727214
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17145819|REF_RGD_ID:2291869
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:731989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17384664
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:731989	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:16436637|REF_RGD_ID:2298535
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:731989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17384664
12117912	WIF1	WNT inhibitory factor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923031
12117926	PNPLA5	patatin like phospholipase domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:1115	sarcoma		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:1324	lung cancer		ISO	RGD:1346224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:1520	colon carcinoma		ISO	RGD:1346224	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:2394	ovarian cancer		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346224	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1346224	D	RGD:7240710	20200226	OMIM			
12117945	PTPN12	protein tyrosine phosphatase non-receptor type 12	gene	DOID:9256	colorectal cancer		ISO	RGD:1346224	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: PTPN12-related condition	PMID:25741868
12117977	OR9Q4	olfactory receptor family 9 subfamily Q member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117977	OR9Q4	olfactory receptor family 9 subfamily Q member 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:10534	stomach cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1115	sarcoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:1909	melanoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:3275	thymoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5041	esophageal cancer		ISO	RGD:1322154	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12117981	CLPTM1	CLPTM1 regulator of GABA type A receptor forward trafficking	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118017	SATB1	SATB homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313660	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12118017	SATB1	SATB homeobox 1	gene	DOID:0061249	familial hyperaldosteronism II		ISO	RGD:1313660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERALDOSTERONISM, FAMILIAL, TYPE II	
12118017	SATB1	SATB homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118017	SATB1	SATB homeobox 1	gene	DOID:1059	intellectual disability		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12118017	SATB1	SATB homeobox 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12118017	SATB1	SATB homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12118017	SATB1	SATB homeobox 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1313661	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12118017	SATB1	SATB homeobox 1	gene	DOID:1826	epilepsy		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12118017	SATB1	SATB homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:3070	high grade glioma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12118017	SATB1	SATB homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12118017	SATB1	SATB homeobox 1	gene	DOID:4189	mutism		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:28492532
12118017	SATB1	SATB homeobox 1	gene	DOID:543	dystonia		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
12118017	SATB1	SATB homeobox 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118017	SATB1	SATB homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1313660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:27618451|PMID:28490743|PMID:33513338
12118017	SATB1	SATB homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118017	SATB1	SATB homeobox 1	gene	DOID:9000289	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES		ISO	RGD:1313660	D	RGD:7240710	20210414	OMIM			
12118017	SATB1	SATB homeobox 1	gene	DOID:9000289	DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES | ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies | ClinVar Annotator: match by term: SATB1-related condition	PMID:25741868|PMID:28492532|PMID:33513338
12118017	SATB1	SATB homeobox 1	gene	DOID:9000495	Tremor		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:28492532
12118017	SATB1	SATB homeobox 1	gene	DOID:9003563	KOHLSCHUTTER-TONZ SYNDROME-LIKE		ISO	RGD:1313660	D	RGD:7240710	20210414	OMIM			
12118017	SATB1	SATB homeobox 1	gene	DOID:9003563	KOHLSCHUTTER-TONZ SYNDROME-LIKE		ISO	RGD:1313660	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEN HOED-DE BOER-VOISIN SYNDROME | ClinVar Annotator: match by term: Kohlschutter-Tonz syndrome-like	PMID:16371359|PMID:17652321|PMID:25741868|PMID:27462121|PMID:33513338|PMID:34782754
12118017	SATB1	SATB homeobox 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12118017	SATB1	SATB homeobox 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12118017	SATB1	SATB homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118017	SATB1	SATB homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
12118017	SATB1	SATB homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0060443	corneal endothelial dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL ENDOTHELIAL DYSTROPHY	PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17679935|PMID:18474783|PMID:22072594|PMID:25741868|PMID:28492532
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0060649	congenital hereditary endothelial dystrophy of cornea		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea	PMID:16767101|PMID:16825429|PMID:17679935|PMID:18474783|PMID:25741868|PMID:25811729|PMID:28492532|PMID:29327391
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0110855	posterior polymorphous corneal dystrophy 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior polymorphous corneal dystrophy 1	PMID:25182519|PMID:28492532
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:0111620	corneal dystrophy-perceptive deafness syndrome		ISO	RGD:1320941	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS | ClinVar Annotator: match by term: Corneal dystrophy and sensorineural deafness | ClinVar Annotator: match by term: Corneal dystrophy-perceptive deafness syndrome | ClinVar Annotator: match by term: Harboyan syndrome | ClinVar Annotator: match by term: corneal dystrophy-perceptive deafness syndrome	PMID:16199547|PMID:16767101|PMID:16825429|PMID:17220209|PMID:17397048|PMID:17576681|PMID:17679935|PMID:18024964|PMID:18474783|PMID:19337156|PMID:19369245|PMID:20848555|PMID:21203343|PMID:22072594|PMID:23615275|PMID:23922488|PMID:24033266|PMID:24348007|PMID:24916015|PMID:25007886|PMID:25182519|PMID:25500497|PMID:25741868|PMID:25741869|PMID:25811729|PMID:26467025|PMID:26619383|PMID:27057589|PMID:27925686|PMID:28263186|PMID:28492532|PMID:29327391|PMID:30140924|PMID:30557570|PMID:30856043|PMID:31323090|PMID:31420327|PMID:31555324|PMID:31691803|PMID:31714402|PMID:32520610|PMID:33541055|PMID:34637099|PMID:35291925|PMID:35672901|PMID:35985662|PMID:36037197|PMID:36902444|PMID:38252645|PMID:38450295|PMID:38990107|PMID:9536098
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:1115	sarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:1324	lung cancer		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:2566	corneal dystrophy		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	PMID:18024964|PMID:20848555|PMID:23585771|PMID:23922488|PMID:24348007|PMID:25182519|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28973083|PMID:29327391|PMID:31263352|PMID:31691803|PMID:33816482|PMID:34130750|PMID:36115991
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:3275	thymoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:630	genetic disease		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:7240710	20180130	OMIM			
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:9004127	Corneal Dystrophy, Fuchs Endothelial, 4		ISO	RGD:1320941	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4 | ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4	PMID:18024964|PMID:22072594|PMID:25007886|PMID:25741868|PMID:28492532|PMID:29327391
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118033	SLC4A11	solute carrier family 4 member 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118070	PDYN	prodynorphin	gene	DOID:0050155	sensory system disease		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19200067
12118070	PDYN	prodynorphin	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens	PMID:29678771|REF_RGD_ID:401851055
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:SNP, hypermethylation:promoter:rs2235751 (human)	PMID:28336495|REF_RGD_ID:401850551
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:SNPs, haplotypes:multiple	PMID:23101464|REF_RGD_ID:401850560
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP, hypermethylation:dorsolateral prefrontal cortex:rs2281285 (human)	PMID:21521424|REF_RGD_ID:401850575
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs2281285 (human)	PMID:24223163|REF_RGD_ID:401850565
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNPs: :multiple	PMID:16924269|REF_RGD_ID:401850571
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		mRNA, protein:increased expression:dorsolateral prefrontal cortex, orbitofrontal cortex	PMID:21955155|REF_RGD_ID:401850584
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence		ISO	RGD:62054	D	RGD:9068941	20250710	RGD		mRNA:increased expression:amygdala	PMID:21507157|REF_RGD_ID:617148290
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence	disease_progression	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs2281285 (human)	PMID:26502829|REF_RGD_ID:11535796
12118070	PDYN	prodynorphin	gene	DOID:0050741	alcohol dependence	no_association	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs1997794 (human)	PMID:24035285|REF_RGD_ID:401850579
12118070	PDYN	prodynorphin	gene	DOID:0050742	nicotine dependence		ISO	RGD:62054	D	RGD:9068941	20250626	RGD		mRNA:increased expression:prefrontal cortex	PMID:27430399|REF_RGD_ID:616926599
12118070	PDYN	prodynorphin	gene	DOID:0050973	spinocerebellar ataxia 23		ISO	RGD:1343954	D	RGD:7240710	20180130	OMIM			
12118070	PDYN	prodynorphin	gene	DOID:0060001	withdrawal disorder		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		associated with cocaine abuse;mRNA:altered expression:hippocampal formation, nucleus accumbens	PMID:30818133|REF_RGD_ID:401851051
12118070	PDYN	prodynorphin	gene	DOID:0060001	withdrawal disorder		ISO	RGD:62054	D	RGD:9068941	20231102	RGD		associated with opioid abuse	PMID:9045086|REF_RGD_ID:401851908
12118070	PDYN	prodynorphin	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9930741
12118070	PDYN	prodynorphin	gene	DOID:0080855	Parkinsonism	disease_progression	ISO	RGD:62054	D	RGD:9068941	20231026	RGD		mRNA:increased expression:striatum	PMID:26113400|REF_RGD_ID:401851054
12118070	PDYN	prodynorphin	gene	DOID:0081292	traumatic brain injury		ISO	RGD:62054	D	RGD:9068941	20231109	RGD		mRNA:increased expression:hippocampus	PMID:12626770|REF_RGD_ID:633616
12118070	PDYN	prodynorphin	gene	DOID:10914	amnestic disorder		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7768285
12118070	PDYN	prodynorphin	gene	DOID:11162	respiratory failure		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:6662192
12118070	PDYN	prodynorphin	gene	DOID:11206	opioid abuse		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		mRNA, protein:increased expression:peripheral blood lymphocyte	PMID:31710992|REF_RGD_ID:401850570
12118070	PDYN	prodynorphin	gene	DOID:11206	opioid abuse		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		protein:increased expression:nucleus accumbens	PMID:24305833|REF_RGD_ID:401850592
12118070	PDYN	prodynorphin	gene	DOID:11832	visual epilepsy		ISO	RGD:1343954	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:1675896
12118070	PDYN	prodynorphin	gene	DOID:13580	cholestasis		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16919318
12118070	PDYN	prodynorphin	gene	DOID:1470	major depressive disorder		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		associated with heroin dependence or alcohol use disorder;DNA:repeat:promoter:rs35286251 (human)	PMID:35271823|REF_RGD_ID:401850556
12118070	PDYN	prodynorphin	gene	DOID:1470	major depressive disorder		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		mRNA:decreased expression:periamygdaloid cortex	PMID:24231353|REF_RGD_ID:401850554
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17559549|PMID:18923396
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA, mRNA:SNP, decreased expression:promoter, dorsolateral prefrontal cortex:rs1997794 (human)	PMID:29925858|REF_RGD_ID:401850559
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder		ISO	RGD:62054	D	RGD:9068941	20231028	RGD		mRNA, protein:decreased expression:hippocampus, granule cell	PMID:1589146|REF_RGD_ID:401851059
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder		ISO	RGD:62054	D	RGD:9068941	20250501	RGD		mRNA, protein:increased expression:paraventricular nucleus	PMID:17250616|REF_RGD_ID:598150064
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder	no_association	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs2281285 (human)	PMID:36099111|REF_RGD_ID:401850566
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder	no_association	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNPs: :rs2281285, rs2225749, rs910080 (human)	PMID:37177778|REF_RGD_ID:401850581
12118070	PDYN	prodynorphin	gene	DOID:1574	alcohol use disorder	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		associated with cocaine dependence;DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human)	PMID:18923396|REF_RGD_ID:401850550
12118070	PDYN	prodynorphin	gene	DOID:1596	depressive disorder		ISO	RGD:62054	D	RGD:9068941	20231021	RGD			PMID:24816773|REF_RGD_ID:401850568
12118070	PDYN	prodynorphin	gene	DOID:1826	epilepsy		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		mRNA:increased expression:hippocampal formation	PMID:7898641|REF_RGD_ID:401851050
12118070	PDYN	prodynorphin	gene	DOID:1826	epilepsy		ISO	RGD:62054	D	RGD:9068941	20231102	RGD			PMID:8528458|REF_RGD_ID:401851909
12118070	PDYN	prodynorphin	gene	DOID:224	transient cerebral ischemia		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		mRNA:decreased expression:dentate gyrus, granule cell	PMID:8914861|REF_RGD_ID:401851049
12118070	PDYN	prodynorphin	gene	DOID:2559	opiate dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs1022563 (human)	PMID:22443215|REF_RGD_ID:401850569
12118070	PDYN	prodynorphin	gene	DOID:2559	opiate dependence	no_association	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs199774, rs1022563 (human)	PMID:28656735|REF_RGD_ID:401850580
12118070	PDYN	prodynorphin	gene	DOID:2559	opiate dependence	no_association	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs910080, rs199774  (human)	PMID:22443215|REF_RGD_ID:401850569
12118070	PDYN	prodynorphin	gene	DOID:2559	opiate dependence	sexual_dimorphism	ISO	RGD:1343954	D	RGD:9068941	20231026	RGD		DNA:SNPs:promoter, 3' utr:rs1997794, rs102256	PMID:19298317|REF_RGD_ID:401850586
12118070	PDYN	prodynorphin	gene	DOID:2559	opiate dependence	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:SNP: :rs910080 (human)	PMID:28656735|REF_RGD_ID:401850580
12118070	PDYN	prodynorphin	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:62054	D	RGD:9068941	20231026	RGD			PMID:15976090|REF_RGD_ID:401850590
12118070	PDYN	prodynorphin	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1343954	D	RGD:9068941	20200609	RGD		DNA:repeats:promoter: (human)	PMID:11835385|REF_RGD_ID:1358556
12118070	PDYN	prodynorphin	gene	DOID:480	movement disease		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20298714
12118070	PDYN	prodynorphin	gene	DOID:6000	congestive heart failure		ISO	RGD:62054	D	RGD:9068941	20231109	RGD		mRNA, protein:increased expression:left heart ventricle	PMID:26365878|REF_RGD_ID:401900132
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16529859
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:repeat:promoter:rs35286251 (human)	PMID:16529859|REF_RGD_ID:401850552
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:62054	D	RGD:9068941	20231021	RGD		mRNA:altered expression:brain	PMID:16289352|REF_RGD_ID:401850564
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		mRNA:increased expression:central amygdaloid nucleus	PMID:12523490|REF_RGD_ID:401850585
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:62054	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nucleus acccumbens	PMID:27989838|REF_RGD_ID:401851910
12118070	PDYN	prodynorphin	gene	DOID:670	amphetamine abuse		ISO	RGD:62346	D	RGD:9068941	20231026	RGD		mRNA:increased expression:nucleus accumbens	PMID:22390687|REF_RGD_ID:401851043
12118070	PDYN	prodynorphin	gene	DOID:809	cocaine abuse		ISO	RGD:62054	D	RGD:9068941	20231021	RGD		mRNA:increased expression:caudate putamen	PMID:7694032|REF_RGD_ID:401850578
12118070	PDYN	prodynorphin	gene	DOID:809	cocaine abuse		ISO	RGD:62054	D	RGD:9068941	20231026	RGD		mRNA:increased expression:central amygdaloid nucleus, dentate gyrus of hippocampal formation	PMID:12523490|REF_RGD_ID:401850585
12118070	PDYN	prodynorphin	gene	DOID:9000641	Pain		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17670969|PMID:20068450
12118070	PDYN	prodynorphin	gene	DOID:9001048	Nociceptive Pain		ISO	RGD:62054	D	RGD:9068941	20231102	RGD			PMID:25663984|REF_RGD_ID:401851903
12118070	PDYN	prodynorphin	gene	DOID:9001443	Hypercapnia		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11311734
12118070	PDYN	prodynorphin	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17670969
12118070	PDYN	prodynorphin	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:62054	D	RGD:9068941	20231102	RGD			PMID:25102697|REF_RGD_ID:401851905
12118070	PDYN	prodynorphin	gene	DOID:9002669	Hypoxia		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11311734
12118070	PDYN	prodynorphin	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:62054	D	RGD:9068941	20250710	RGD		mRNA:increased expression:amygdala	PMID:21507157|REF_RGD_ID:617148290
12118070	PDYN	prodynorphin	gene	DOID:9004120	Alcohol Withdrawal Seizures		ISO	RGD:62346	D	RGD:9068941	20231021	RGD		mRNA:increased expression:brain	PMID:15869750|REF_RGD_ID:401850576
12118070	PDYN	prodynorphin	gene	DOID:9004659	Respiration Disorders		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6131355
12118070	PDYN	prodynorphin	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16184603|PMID:17559549|PMID:18575850|PMID:18923396
12118070	PDYN	prodynorphin	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:VNTR:promoter	PMID:11992566|REF_RGD_ID:401850567
12118070	PDYN	prodynorphin	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:62054	D	RGD:9068941	20231021	RGD			PMID:24816773|REF_RGD_ID:401850568
12118070	PDYN	prodynorphin	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:62054	D	RGD:9068941	20231102	RGD		mRNA:altered expression:brain	PMID:8840025|REF_RGD_ID:401851906
12118070	PDYN	prodynorphin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62054	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve, peroneal nerve, tibial nerve, footpad skin:	PMID:16924480|REF_RGD_ID:9834947
12118070	PDYN	prodynorphin	gene	DOID:9006024	Hypotension		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1676337|PMID:2536002|PMID:2566129|PMID:6131355
12118070	PDYN	prodynorphin	gene	DOID:9006202	Pruritus		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669290
12118070	PDYN	prodynorphin	gene	DOID:9006302	Binge Drinking		ISO	RGD:62054	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: decreased expression:amygdala	PMID:33671048|REF_RGD_ID:616390065
12118070	PDYN	prodynorphin	gene	DOID:9007001	Bradycardia		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1676337|PMID:6131355|PMID:6716269
12118070	PDYN	prodynorphin	gene	DOID:9007090	Experimental Seizures		ISO	RGD:62054	D	RGD:9068941	20231109	RGD		mRNA, protein:increased expression:frontal cortex, hippocamlpus, temporal cortex	PMID:10691294|REF_RGD_ID:401854253
12118070	PDYN	prodynorphin	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21737418|PMID:9767399
12118070	PDYN	prodynorphin	gene	DOID:9008394	Drug-Induced Dyskinesia	severity	ISO	RGD:62054	D	RGD:9068941	20231021	RGD		associated with Parkinsonism;protein:increased expression:striatum	PMID:21737418|REF_RGD_ID:401850563
12118070	PDYN	prodynorphin	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:62054	D	RGD:9068941	20231026	RGD			PMID:17884291|REF_RGD_ID:401851046
12118070	PDYN	prodynorphin	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:62054	D	RGD:9068941	20231109	RGD		associated with Parkinsonism	PMID:10869049|REF_RGD_ID:401900134
12118070	PDYN	prodynorphin	gene	DOID:9008675	Dyskinesias		ISO	RGD:1343954	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21984936
12118070	PDYN	prodynorphin	gene	DOID:9975	cocaine dependence		ISO	RGD:62346	D	RGD:9068941	20231026	RGD		mRNA:increased expression:caudate-putamen	PMID:23164614|REF_RGD_ID:401850589
12118070	PDYN	prodynorphin	gene	DOID:9975	cocaine dependence		ISO	RGD:62346	D	RGD:9068941	20231026	RGD		mRNA:increased expression:nucleus accumbens	PMID:22390687|REF_RGD_ID:401851043
12118070	PDYN	prodynorphin	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA, mRNA:SNPs, haplotype:3' utr:rs910080, rs910079, rs2235749 (human)	PMID:18923396|REF_RGD_ID:401850550
12118070	PDYN	prodynorphin	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:VNTR:Promoter	PMID:16184603|REF_RGD_ID:401850583
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence		ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		mRNA:decreased expression:periamygdaloid cortex	PMID:24231353|REF_RGD_ID:401850554
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence		ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:VNTR, SNPs:rs1022563, rs2235749, rs910080 (human)	PMID:21382455|REF_RGD_ID:401850577
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence	no_association	ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:SNPs, repeat:promoter:rs2281285, rs2235749, rs35286251 (human)	PMID:29911117|REF_RGD_ID:401850561
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence	onset	ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:repeat:promoter:rs35286251 (human)	PMID:30936032|PMID:35271823|REF_RGD_ID:401850549|REF_RGD_ID:401850556
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231019	RGD		DNA:SNP: :rs910080 (human)	PMID:29911117|REF_RGD_ID:401850561
12118070	PDYN	prodynorphin	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:1343954	D	RGD:9068941	20231021	RGD		DNA:VNTR:promoter	PMID:30138645|REF_RGD_ID:401850562
12118088	AMFR	autocrine motility factor receptor	gene	DOID:0070458	hereditary spastic paraplegia 89		ISO	RGD:1323068	D	RGD:7240710	20230531	OMIM			
12118088	AMFR	autocrine motility factor receptor	gene	DOID:0070458	hereditary spastic paraplegia 89		ISO	RGD:1323068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 89, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 89, autosomal recessive	PMID:25741868
12118088	AMFR	autocrine motility factor receptor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1323069	D	RGD:9068941	20260319	MouseDO			
12118088	AMFR	autocrine motility factor receptor	gene	DOID:10534	stomach cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22313999
12118088	AMFR	autocrine motility factor receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:1115	sarcoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:13938	amenorrhea		ISO	RGD:1323068	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12118088	AMFR	autocrine motility factor receptor	gene	DOID:1909	melanoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:3070	high grade glioma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:3275	thymoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1323068	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:9000918	Disease Progression		ISO	RGD:1323068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9241080
12118088	AMFR	autocrine motility factor receptor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1323068	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12118088	AMFR	autocrine motility factor receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12118088	AMFR	autocrine motility factor receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1323068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12118109	NDST4	N-deacetylase and N-sulfotransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118109	NDST4	N-deacetylase and N-sulfotransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118109	NDST4	N-deacetylase and N-sulfotransferase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:0080337	mitochondrial DNA depletion syndrome 15		ISO	RGD:1605718	D	RGD:7240710	20190315	OMIM			
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:0080337	mitochondrial DNA depletion syndrome 15		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition	PMID:25741868|PMID:28492532
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:0080855	Parkinsonism		ISO	RGD:733567	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum	PMID:22040668|REF_RGD_ID:6484267
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605718	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17192785
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1937 (human)	PMID:21799244|REF_RGD_ID:6767575
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)	PMID:17537576|REF_RGD_ID:6771185
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:12858	Huntington's disease		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:21595933|REF_RGD_ID:6770890
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:12858	Huntington's disease		ISO	RGD:733567	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum	PMID:20529956|REF_RGD_ID:6771173
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:12934	Kearns-Sayre syndrome		ISO	RGD:733567	D	RGD:9068941	20220825	MouseDO		OMIM:530000	
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28595911
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease		ISO	RGD:733567	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:missense mutation, SNP:exon, intron:p.S12T, IVS4+113A>G (rs1937, rs2306604) (human)	PMID:17537576|REF_RGD_ID:6771185
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.S12T (rs1937) (human)	PMID:18248889|REF_RGD_ID:6771184
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS4+113A>G (rs2306604) (human)	PMID:19925850|REF_RGD_ID:14389730
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:1824	status epilepticus		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:21854834|REF_RGD_ID:6767574
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:22354563|REF_RGD_ID:6767572
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:5082	liver cirrhosis		ISO	RGD:1605718	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: therapeutic	PMID:38241915
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22469910|REF_RGD_ID:6767567
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1605718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IUGR	PMID:27448789
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9002669	Hypoxia	treatment	ISO	RGD:620682	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		associated with Sepsis;protein:increased expression:skeletal muscle	PMID:18997871|REF_RGD_ID:6771188
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:620682	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:18723421|REF_RGD_ID:2302400
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22266265|REF_RGD_ID:6767573
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9005372	Inflammation		ISO	RGD:620682	D	RGD:9068941	20200609	RGD			PMID:22469910|REF_RGD_ID:6767567
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28595911
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9007170	Bowen's Disease		ISO	RGD:1605718	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21514422
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9007346	Cachexia		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD		associated with Pulmonary Disease, Chronic Obstructive (COPD, MeSH:D029424); RNA, protein:decreased expression:skeletal muscle	PMID:17459894|REF_RGD_ID:5683621
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9970	obesity		ISO	RGD:1605718	D	RGD:9068941	20200609	RGD			PMID:21862610|REF_RGD_ID:5683906
12118132	TFAM	transcription factor A, mitochondrial	gene	DOID:9970	obesity	treatment	ISO	RGD:620682	D	RGD:9068941	20230720	RGD		mRNA:decreased expression:left ventricle myocardium (rat)	PMID:33310031|REF_RGD_ID:329955450
12118143	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118143	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:10534	stomach cancer		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118143	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:1115	sarcoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118143	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:1324	lung cancer		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118143	PACSIN1	protein kinase C and casein kinase substrate in neurons 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736787	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118174	CPB2	carboxypeptidase B2	gene	DOID:0050855	renal fibrosis		ISO	RGD:736000	D	RGD:9068941	20200609	RGD		associated with Ureteral Obstruction;	PMID:17988229|REF_RGD_ID:7243118
12118174	CPB2	carboxypeptidase B2	gene	DOID:1115	sarcoma		ISO	RGD:731734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118174	CPB2	carboxypeptidase B2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		protein:increased activity,increased expression:plasma	PMID:12439147|REF_RGD_ID:7243124
12118174	CPB2	carboxypeptidase B2	gene	DOID:13241	Behcet's disease		ISO	RGD:731734	D	RGD:9068941	20200609	RGD			PMID:15668188|REF_RGD_ID:1598474
12118174	CPB2	carboxypeptidase B2	gene	DOID:13938	amenorrhea		ISO	RGD:731734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16167916
12118174	CPB2	carboxypeptidase B2	gene	DOID:2228	thrombocytosis		ISO	RGD:731734	D	RGD:9068941	20200609	RGD			PMID:16244771|REF_RGD_ID:1598473
12118174	CPB2	carboxypeptidase B2	gene	DOID:2921	glomerulonephritis		ISO	RGD:736000	D	RGD:9068941	20200609	RGD			PMID:18612543|REF_RGD_ID:7243117
12118174	CPB2	carboxypeptidase B2	gene	DOID:784	chronic kidney disease		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds :p.A147T(rs3742264)(human)	PMID:19056482|REF_RGD_ID:7243119
12118174	CPB2	carboxypeptidase B2	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		DNA:polymorphism: ;1542C>G(human)	PMID:17327284|REF_RGD_ID:7243121
12118174	CPB2	carboxypeptidase B2	gene	DOID:9000483	Angina Pectoris		ISO	RGD:731734	D	RGD:9068941	20200609	RGD			PMID:12624641|REF_RGD_ID:1598479
12118174	CPB2	carboxypeptidase B2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:16123492|REF_RGD_ID:2313641
12118174	CPB2	carboxypeptidase B2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:12574207|REF_RGD_ID:7243123
12118174	CPB2	carboxypeptidase B2	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:731734	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:1040C>T(human)	PMID:22932273|REF_RGD_ID:7243116
12118174	CPB2	carboxypeptidase B2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:71035	D	RGD:9068941	20200609	RGD			PMID:22768796|REF_RGD_ID:7243111
12118174	CPB2	carboxypeptidase B2	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:71035	D	RGD:9068941	20200609	RGD		associated with sepsis, endotoxemia;	PMID:19325462|REF_RGD_ID:7243114
12118174	CPB2	carboxypeptidase B2	gene	DOID:9003121	Thromboembolism		ISO	RGD:731734	D	RGD:9068941	20200609	RGD			PMID:14739223|REF_RGD_ID:1598476
12118174	CPB2	carboxypeptidase B2	gene	DOID:9004484	Sepsis		ISO	RGD:71035	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:15497025|REF_RGD_ID:2313648
12118174	CPB2	carboxypeptidase B2	gene	DOID:9005036	Bacteremia		ISO	RGD:71035	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma	PMID:17911187|REF_RGD_ID:2313646
12118174	CPB2	carboxypeptidase B2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:71035	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression,increased activity:liver,plasma	PMID:19386599|REF_RGD_ID:7243112
12118174	CPB2	carboxypeptidase B2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma	PMID:11836301|REF_RGD_ID:2313645
12118174	CPB2	carboxypeptidase B2	gene	DOID:9007730	Burns		ISO	RGD:71035	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma	PMID:15497025|REF_RGD_ID:2313648
12118174	CPB2	carboxypeptidase B2	gene	DOID:9008366	Meningococcal Infections		ISO	RGD:731734	D	RGD:9068941	20200609	RGD			PMID:14717966|REF_RGD_ID:1598478
12118174	CPB2	carboxypeptidase B2	gene	DOID:9351	diabetes mellitus		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:plasma	PMID:14983223|REF_RGD_ID:2313643
12118174	CPB2	carboxypeptidase B2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:plasma	PMID:11836301|REF_RGD_ID:2313645
12118174	CPB2	carboxypeptidase B2	gene	DOID:9970	obesity		ISO	RGD:731734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959692
12118174	CPB2	carboxypeptidase B2	gene	DOID:9970	obesity		ISO	RGD:731734	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression, increased activity:plasma	PMID:11836301|REF_RGD_ID:2313645
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:1115	sarcoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:1324	lung cancer		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:1605347	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9008685	Idiopathic Basal Ganglia Calcification 9		ISO	RGD:1605347	D	RGD:7240710	20240515	OMIM			
12118189	NAA60	N-alpha-acetyltransferase 60, NatF catalytic subunit	gene	DOID:9008685	Idiopathic Basal Ganglia Calcification 9		ISO	RGD:1605347	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE	
12118212	PCBD2	pterin-4 alpha-carbinolamine dehydratase 2	gene	DOID:1324	lung cancer		ISO	RGD:1353306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118212	PCBD2	pterin-4 alpha-carbinolamine dehydratase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1353306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118212	PCBD2	pterin-4 alpha-carbinolamine dehydratase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353306	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12118212	PCBD2	pterin-4 alpha-carbinolamine dehydratase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118219	CD27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:7240710	20180130	OMIM			
12118219	CD27	CD27 molecule	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1353701	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	PMID:16199547|PMID:25640679|PMID:25843314|PMID:28492532
12118219	CD27	CD27 molecule	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1560499	D	RGD:9068941	20200609	RGD			PMID:16698589|REF_RGD_ID:1581860
12118219	CD27	CD27 molecule	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
12118219	CD27	CD27 molecule	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1353701	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:25741868|PMID:28492532
12118219	CD27	CD27 molecule	gene	DOID:820	myocarditis		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
12118219	CD27	CD27 molecule	gene	DOID:9007346	Cachexia		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17878525
12118219	CD27	CD27 molecule	gene	DOID:934	viral infectious disease		ISO	RGD:1353701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12031769
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601744	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118236	ASPHD2	aspartate beta-hydroxylase domain containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1601744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12118244	RBM42	RNA binding motif protein 42	gene	DOID:1324	lung cancer		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118244	RBM42	RNA binding motif protein 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12118244	RBM42	RNA binding motif protein 42	gene	DOID:5041	esophageal cancer		ISO	RGD:1601847	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118244	RBM42	RNA binding motif protein 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118244	RBM42	RNA binding motif protein 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731726	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0060249	scoliosis		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0070069	autosomal dominant intellectual developmental disorder 39		ISO	RGD:731726	D	RGD:7240710	20180130	OMIM			
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0070069	autosomal dominant intellectual developmental disorder 39		ISO	RGD:731726	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 39 | ClinVar Annotator: match by term: MYT1L-related condition | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 39	PMID:25741868|PMID:28492532|PMID:33622623
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:0070309	absence epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1059	intellectual disability		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:23033978|PMID:25741868|PMID:28859103|PMID:30055078|PMID:34748075
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:10907	microcephaly		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:10908	hydrocephalus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:12849	autistic disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1324	lung cancer		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:13300	Scheuermann's disease		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile osteochondrosis of spine	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:13620	patent foramen ovale		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1657	ventricular septal defect		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1826	epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1827	generalized epilepsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:1969	cerebral palsy		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:2394	ovarian cancer		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:3070	high grade glioma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:480	movement disease		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:535	sleep disorder		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:540	strabismus		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:630	genetic disease		ISO	RGD:731726	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34748075
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9001581	Constipation		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9002563	Gait Ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9002569	Overweight		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9002916	Hyperphagia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9003133	Hypertelorism		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9003816	Macrocephaly		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731726	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: Syndromic complex neurodevelopmental disorder	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9004866	Ataxia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:731726	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9005077	Joint Instability		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:25741868
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9007661	Dwarfism		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:28859103|PMID:30796847
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118360	MYT1L	myelin transcription factor 1 like	gene	DOID:9970	obesity		ISO	RGD:731726	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118413	YIPF1	Yip1 domain family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:1909	melanoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:3275	thymoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118432	MCOLN2	mucolipin TRP cation channel 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318909	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118456	BHLHA9	basic helix-loop-helix family member a9	gene	DOID:630	genetic disease		ISO	RGD:2302834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12118456	BHLHA9	basic helix-loop-helix family member a9	gene	DOID:9003579	Complex Camptosynpolydactyly		ISO	RGD:2302834	D	RGD:7240710	20190315	OMIM			
12118456	BHLHA9	basic helix-loop-helix family member a9	gene	DOID:9003579	Complex Camptosynpolydactyly		ISO	RGD:2302834	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Camptosynpolydactyly, complex	PMID:25741868|PMID:28492532
12118456	BHLHA9	basic helix-loop-helix family member a9	gene	DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction		ISO	RGD:2302834	D	RGD:7240710	20180130	OMIM			
12118456	BHLHA9	basic helix-loop-helix family member a9	gene	DOID:9005938	Mesoaxial Synostotic Syndactyly with Phalangeal Reduction		ISO	RGD:2302834	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BHLHA9-related condition | ClinVar Annotator: match by term: Mesoaxial synostotic syndactyly with phalangeal reduction | ClinVar Annotator: match by term: SYNDACTYLY, MESOAXIAL SYNOSTOTIC, WITH PHALANGEAL REDUCTION	PMID:25741868|PMID:28492532
12118491	GATM	glycine amidinotransferase	gene	DOID:0050336	hypophosphatemia		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:731936	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	
12118491	GATM	glycine amidinotransferase	gene	DOID:0050712	AGAT deficiency		ISO	RGD:731936	D	RGD:7240710	20180130	OMIM			
12118491	GATM	glycine amidinotransferase	gene	DOID:0050712	AGAT deficiency		ISO	RGD:731936	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arginine:glycine amidinotransferase deficiency | ClinVar Annotator: match by term: CEREBRAL CREATINE DEFICIENCY SYNDROME 3 | ClinVar Annotator: match by term: Cerebral creatine deficiency syndrome 3	PMID:11555793|PMID:12468279|PMID:16199547|PMID:17576681|PMID:20301745|PMID:20625172|PMID:20682460|PMID:23660394|PMID:23770102|PMID:25741868|PMID:26490222|PMID:27233232|PMID:28492532|PMID:36100708|PMID:9536098
12118491	GATM	glycine amidinotransferase	gene	DOID:0050758	metabolic acidosis		ISO	RGD:731936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118491	GATM	glycine amidinotransferase	gene	DOID:0080757	Fanconi renotubular syndrome 1		ISO	RGD:731936	D	RGD:7240710	20200701	OMIM			
12118491	GATM	glycine amidinotransferase	gene	DOID:0080757	Fanconi renotubular syndrome 1		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FANCONI RENOTUBULAR SYNDROME 1 | ClinVar Annotator: match by term: FRTS1 | ClinVar Annotator: match by term: Fanconi renotubular syndrome 1 | ClinVar Annotator: match by term: GATM-related condition	PMID:25741868|PMID:27233232|PMID:28492532|PMID:29654216|PMID:35738466
12118491	GATM	glycine amidinotransferase	gene	DOID:10573	osteomalacia		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteomalacia	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:1059	intellectual disability		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:10591	pre-eclampsia		ISO	RGD:731936	D	RGD:9068941	20230720	RGD		mRNA:increased expression:placenta	PMID:31991880|REF_RGD_ID:329961300
12118491	GATM	glycine amidinotransferase	gene	DOID:10609	rickets		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:1062	Fanconi syndrome		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LUDER-SHELDON SYNDROME	PMID:25741868|PMID:27233232|PMID:28492532
12118491	GATM	glycine amidinotransferase	gene	DOID:1074	kidney failure		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:12678	hypercalcemia		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:1826	epilepsy		ISO	RGD:731936	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12118491	GATM	glycine amidinotransferase	gene	DOID:224	transient cerebral ischemia	exacerbates	ISO	RGD:731937	D	RGD:9068941	20230713	RGD		DNA:deletion	PMID:24004504|REF_RGD_ID:329955375
12118491	GATM	glycine amidinotransferase	gene	DOID:3021	acute kidney failure		ISO	RGD:71090	D	RGD:9068941	20200609	RGD		protein:decreased activity:kidney (rat)	PMID:2752493|REF_RGD_ID:1599823
12118491	GATM	glycine amidinotransferase	gene	DOID:305	carcinoma		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12118491	GATM	glycine amidinotransferase	gene	DOID:4500	hypokalemia		ISO	RGD:731936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:557	kidney disease		ISO	RGD:71090	D	RGD:9068941	20230720	RGD			PMID:14254587|REF_RGD_ID:329961303
12118491	GATM	glycine amidinotransferase	gene	DOID:557	kidney disease		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22061828
12118491	GATM	glycine amidinotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118491	GATM	glycine amidinotransferase	gene	DOID:576	proteinuria		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:5844	myocardial infarction		ISO	RGD:731937	D	RGD:9068941	20230720	RGD			PMID:31972362|REF_RGD_ID:329961305
12118491	GATM	glycine amidinotransferase	gene	DOID:6000	congestive heart failure		ISO	RGD:731936	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:16820567|PMID:36071497
12118491	GATM	glycine amidinotransferase	gene	DOID:6000	congestive heart failure		ISO	RGD:731936	D	RGD:9068941	20230713	RGD		mRNA:increased expression:left ventricle myocardium	PMID:16820567|REF_RGD_ID:329955376
12118491	GATM	glycine amidinotransferase	gene	DOID:630	genetic disease		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:27233232|PMID:28492532|PMID:9536098
12118491	GATM	glycine amidinotransferase	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:731936	D	RGD:9068941	20230720	RGD			PMID:22797469|REF_RGD_ID:329961302
12118491	GATM	glycine amidinotransferase	gene	DOID:783	end stage renal disease		ISO	RGD:731936	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:8125	osteochondrosis		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteochondrosis	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9000197	Edema		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12118491	GATM	glycine amidinotransferase	gene	DOID:9000637	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities	
12118491	GATM	glycine amidinotransferase	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9001738	Hypercalciuria		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:71090	D	RGD:9068941	20230720	RGD			PMID:26364511|REF_RGD_ID:329961310
12118491	GATM	glycine amidinotransferase	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9003426	Glycosuria		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycosuria	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12118491	GATM	glycine amidinotransferase	gene	DOID:9005749	Necrosis		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22061828
12118491	GATM	glycine amidinotransferase	gene	DOID:9006956	nephrotoxicity		ISO	RGD:71090	D	RGD:9068941	20230720	RGD			PMID:15462098|PMID:19664912|REF_RGD_ID:329961309|REF_RGD_ID:329961312
12118491	GATM	glycine amidinotransferase	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12118491	GATM	glycine amidinotransferase	gene	DOID:9007661	Dwarfism		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9007740	Familial Hypophosphatemia		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperphosphaturia	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12118491	GATM	glycine amidinotransferase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868
12118504	FUT7	fucosyltransferase 7	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1353646	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12118504	FUT7	fucosyltransferase 7	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1353646	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12118504	FUT7	fucosyltransferase 7	gene	DOID:1324	lung cancer		ISO	RGD:1353646	D	RGD:9068941	20260409	RGD		mRNA:increased expression:lung	PMID:29228607|REF_RGD_ID:645122522
12118504	FUT7	fucosyltransferase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1353646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118504	FUT7	fucosyltransferase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:1909	melanoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344539	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118516	ARFGAP3	ADP ribosylation factor GTPase activating protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:1909	melanoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:3275	thymoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118545	APEH	acylaminoacyl-peptide hydrolase	gene	DOID:9256	colorectal cancer		ISO	RGD:735668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12118573	LMO7	LIM domain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1351855	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy-epispadias-cloacal exstrophy complex	PMID:25741868
12118573	LMO7	LIM domain 7	gene	DOID:10534	stomach cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118573	LMO7	LIM domain 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118573	LMO7	LIM domain 7	gene	DOID:1115	sarcoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118573	LMO7	LIM domain 7	gene	DOID:1324	lung cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118573	LMO7	LIM domain 7	gene	DOID:1909	melanoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118573	LMO7	LIM domain 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:4362	cervical cancer		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118573	LMO7	LIM domain 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118573	LMO7	LIM domain 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1351855	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118573	LMO7	LIM domain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118573	LMO7	LIM domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118573	LMO7	LIM domain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118573	LMO7	LIM domain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118629	SERINC3	serine incorporator 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118629	SERINC3	serine incorporator 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118629	SERINC3	serine incorporator 3	gene	DOID:10534	stomach cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118629	SERINC3	serine incorporator 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118629	SERINC3	serine incorporator 3	gene	DOID:1115	sarcoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118629	SERINC3	serine incorporator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118629	SERINC3	serine incorporator 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1318130	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118629	SERINC3	serine incorporator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118629	SERINC3	serine incorporator 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118629	SERINC3	serine incorporator 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12118629	SERINC3	serine incorporator 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0050787	juvenile polyposis syndrome		ISO	RGD:731943	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Juvenile polyposis syndrome	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0060058	lymphoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0110142	Bartter disease type 1		ISO	RGD:731943	D	RGD:7240710	20180130	OMIM			
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0110142	Bartter disease type 1		ISO	RGD:731943	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARTTER SYNDROME, TYPE 1, ANTENATAL | ClinVar Annotator: match by term: Bartter disease type 1 | ClinVar Annotator: match by term: Bartter syndrome, type 1, antenatal | ClinVar Annotator: match by term: HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL | ClinVar Annotator: match by term: Hyperprostaglandin E syndrome 1 | ClinVar Annotator: match by term: SLC12A1-related condition	PMID:16199547|PMID:17576681|PMID:17699451|PMID:18391953|PMID:19096086|PMID:20219833|PMID:21157372|PMID:21209010|PMID:24253496|PMID:24902942|PMID:25422309|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26787776|PMID:26963954|PMID:28000888|PMID:28095294|PMID:28492532|PMID:29398133|PMID:29527380|PMID:29942493|PMID:30076350|PMID:30476936|PMID:31625567|PMID:31672324|PMID:32997713|PMID:33532864|PMID:33973684|PMID:34805638|PMID:35348259|PMID:35628451|PMID:36058813|PMID:37464296|PMID:40794449|PMID:8640224|PMID:9355073|PMID:9536098|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:0110144	Bartter disease type 3		ISO	RGD:731943	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Bartter disease type 3	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:1115	sarcoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:17998760|PMID:18391953|PMID:19096086|PMID:25741868|PMID:28492532|PMID:28893421|PMID:34805638|PMID:39258717|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:182	calcinosis		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcinosis	PMID:19096086|PMID:25741868|PMID:28492532|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:3275	thymoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:445	Bartter disease		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bartter syndrome	PMID:16199547|PMID:18391953|PMID:19096086|PMID:20219833|PMID:25741868|PMID:28492532|PMID:32997713|PMID:35358470|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:4500	hypokalemia		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:630	genetic disease		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35628451
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:8488	polyhydramnios		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9003507	Premature Birth		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:19096086|PMID:25741868|PMID:28492532|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9005274	Polyuria		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyuria	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:19096086|PMID:25741868|PMID:28492532|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9007331	Alkalosis		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alkalosis	PMID:19096086|PMID:25741868|PMID:28492532|PMID:8640224|PMID:9585600
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:25741868
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118648	SLC12A1	solute carrier family 12 member 1	gene	DOID:9409	diabetes insipidus		ISO	RGD:731943	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:19096086|PMID:25741868|PMID:28492532|PMID:8640224|PMID:9585600
12118685	BPHL	biphenyl hydrolase like	gene	DOID:10534	stomach cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:1115	sarcoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:1324	lung cancer		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316844	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118685	BPHL	biphenyl hydrolase like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118699	TBC1D7	TBC1 domain family member 7	gene	DOID:3393	coronary artery disease		ISO	RGD:36174094	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
12118699	TBC1D7	TBC1 domain family member 7	gene	DOID:9005840	Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive		ISO	RGD:36174094	D	RGD:7240710	20200729	OMIM			
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		ISO	RGD:733759	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: long chain acyl-CoA dehydrogenase deficiency	PMID:25741868
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency		ISO	RGD:10056	D	RGD:9068941	20260604	MouseDO		OMIM:201475	
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:2513	basal cell carcinoma		ISO	RGD:733759	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118723	ACADL	acyl-CoA dehydrogenase long chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118741	CCNH	cyclin H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118741	CCNH	cyclin H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118741	CCNH	cyclin H	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:69470	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parkes Weber syndrome	PMID:25741868|PMID:28492532
12118741	CCNH	cyclin H	gene	DOID:1115	sarcoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118741	CCNH	cyclin H	gene	DOID:1324	lung cancer		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118741	CCNH	cyclin H	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69419	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus	PMID:10501206|REF_RGD_ID:69371
12118741	CCNH	cyclin H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12118741	CCNH	cyclin H	gene	DOID:2513	basal cell carcinoma		ISO	RGD:69470	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BCC1 | ClinVar Annotator: match by term: Basal cell carcinoma, somatic | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: RASA1-related condition	PMID:15574420|PMID:18363760|PMID:18446851|PMID:24038909|PMID:24274751|PMID:25040287|PMID:25741868|PMID:27081547|PMID:28295764|PMID:28492532|PMID:28655553|PMID:29891884|PMID:33248299|PMID:36980822|PMID:8275088|PMID:9219684
12118741	CCNH	cyclin H	gene	DOID:305	carcinoma		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12118741	CCNH	cyclin H	gene	DOID:3068	glioblastoma		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:4362	cervical cancer		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118741	CCNH	cyclin H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118741	CCNH	cyclin H	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12118741	CCNH	cyclin H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118741	CCNH	cyclin H	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69419	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:21710280|REF_RGD_ID:9590263
12118741	CCNH	cyclin H	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12118741	CCNH	cyclin H	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69419	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:12606953|REF_RGD_ID:9590264
12118741	CCNH	cyclin H	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12118741	CCNH	cyclin H	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation		ISO	RGD:13490647|RGD:13504350|RGD:13609305|RGD:14703303|RGD:14707375|RGD:14710088|RGD:151709016|RGD:151709332|RGD:151710351|RGD:151724893|RGD:151781780|RGD:151791350|RGD:151801494|RGD:156324175|RGD:156327068|RGD:402483953|RGD:402484008|RGD:402484197|RGD:402484240|RGD:402484696|RGD:402518433|RGD:402518837|RGD:402518860|RGD:402519113|RGD:402519297|RGD:405010055|RGD:405078544|RGD:405158136	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation | ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome	PMID:17576681|PMID:28492532|PMID:9536098
12118741	CCNH	cyclin H	gene	DOID:9005469	Capillary Malformation-Arteriovenous Malformation		ISO	RGD:38457856	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Capillary malformation-arteriovenous malformation syndrome	PMID:18446851|PMID:24038909|PMID:25741868|PMID:28295764|PMID:28492532|PMID:29891884
12118741	CCNH	cyclin H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118741	CCNH	cyclin H	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69470	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12118741	CCNH	cyclin H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69470	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118766	GLOD4	glyoxalase domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:0060058	lymphoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1604609	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:1059	intellectual disability		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:1909	melanoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:630	genetic disease		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:9005834	Ependymomas		ISO	RGD:1604609	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:9009180	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED		ISO	RGD:1604609	D	RGD:7240710	20210317	OMIM			
12118779	OTUD5	OTU deubiquitinase 5	gene	DOID:9009180	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED		ISO	RGD:1604609	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED | ClinVar Annotator: match by term: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked | ClinVar Annotator: match by term: OTUD5-related condition	PMID:25741868|PMID:33523931|PMID:33748114|PMID:38037881
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344254	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118799	MARCHF3	membrane associated ring-CH-type finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118808	ALX1	ALX homeobox 1	gene	DOID:0060668	anencephaly		ISO	RGD:10288	D	RGD:9068941	20200609	RGD			PMID:8673125|REF_RGD_ID:734689
12118808	ALX1	ALX homeobox 1	gene	DOID:0081044	frontonasal dysplasia		ISO	RGD:732877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12118808	ALX1	ALX homeobox 1	gene	DOID:0081047	frontonasal dysplasia 3		ISO	RGD:732877	D	RGD:7240710	20180130	OMIM			
12118808	ALX1	ALX homeobox 1	gene	DOID:0081047	frontonasal dysplasia 3		ISO	RGD:732877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALX1-related condition | ClinVar Annotator: match by term: FRONTONASAL DYSPLASIA 3 | ClinVar Annotator: match by term: Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome | ClinVar Annotator: match by term: frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome	PMID:20451171|PMID:25741868|PMID:28492532
12118808	ALX1	ALX homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:732877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118808	ALX1	ALX homeobox 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732877	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12118808	ALX1	ALX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:732877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12118808	ALX1	ALX homeobox 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:732877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9847249
12118815	MYO15B	myosin XVB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118815	MYO15B	myosin XVB	gene	DOID:0060058	lymphoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12118815	MYO15B	myosin XVB	gene	DOID:0081337	congenital myopathy		ISO	RGD:1345573	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12118815	MYO15B	myosin XVB	gene	DOID:1115	sarcoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118815	MYO15B	myosin XVB	gene	DOID:1324	lung cancer		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118815	MYO15B	myosin XVB	gene	DOID:3275	thymoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118815	MYO15B	myosin XVB	gene	DOID:4362	cervical cancer		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118815	MYO15B	myosin XVB	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12118815	MYO15B	myosin XVB	gene	DOID:5041	esophageal cancer		ISO	RGD:1345573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118815	MYO15B	myosin XVB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118815	MYO15B	myosin XVB	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118815	MYO15B	myosin XVB	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345573	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
12118815	MYO15B	myosin XVB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118815	MYO15B	myosin XVB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118886	C1QL2	complement C1q like 2	gene	DOID:1115	sarcoma		ISO	RGD:1350440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118886	C1QL2	complement C1q like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:731655	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12118892	HOMER3	homer scaffold protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:1324	lung cancer		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:3275	thymoma		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:731655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:6039	uveal melanoma		ISO	RGD:731655	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:731655	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12118892	HOMER3	homer scaffold protein 3	gene	DOID:9003542	Keratoconus 5		ISO	RGD:731655	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Keratoconus 5	
12118892	HOMER3	homer scaffold protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731655	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118914	LOC485121	lysine-specific demethylase 4D	gene	DOID:2154	nephroblastoma		ISO	RGD:1353550	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (human)	PMID:24219278|REF_RGD_ID:9588525
12118914	LOC485121	lysine-specific demethylase 4D	gene	DOID:5041	esophageal cancer		ISO	RGD:1353550	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118927	LIN7C	lin-7 homolog C, crumbs cell polarity complex component	gene	DOID:10534	stomach cancer		ISO	RGD:735828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118927	LIN7C	lin-7 homolog C, crumbs cell polarity complex component	gene	DOID:1115	sarcoma		ISO	RGD:735828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118927	LIN7C	lin-7 homolog C, crumbs cell polarity complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118927	LIN7C	lin-7 homolog C, crumbs cell polarity complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118927	LIN7C	lin-7 homolog C, crumbs cell polarity complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118936	SLC17A2	solute carrier family 17 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12118936	SLC17A2	solute carrier family 17 member 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12118936	SLC17A2	solute carrier family 17 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12118936	SLC17A2	solute carrier family 17 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12118964	SEPHS2	selenophosphate synthetase 2	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1318823	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
12118964	SEPHS2	selenophosphate synthetase 2	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1318823	D	RGD:9068941	20220407	RGD		mRNA:decreased expression:colorectum (human)	PMID:30469315|REF_RGD_ID:151665806
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies		ISO	RGD:1605414	D	RGD:7240710	20201216	OMIM			
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070417	neurodevelopmental disorder with speech impairment and dysmorphic facies		ISO	RGD:1605414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with speech impairment and dysmorphic facies | ClinVar Annotator: match by term: SETD1A-related condition | ClinVar Annotator: match by term: neurodevelopmental disorder with speech impairment and dysmorphic facies	PMID:24853937|PMID:25420024|PMID:25741868|PMID:26974950|PMID:31197650|PMID:32346159|PMID:36672956|PMID:37166351
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070471	early-onset epilepsy 2		ISO	RGD:1605414	D	RGD:7240710	20200715	OMIM			
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070471	early-onset epilepsy 2		ISO	RGD:1605414	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Epilepsy, early-onset, with or without developmental delay	PMID:25741868|PMID:26974950|PMID:29463886|PMID:31197650|PMID:31595951|PMID:32346159|PMID:36117209|PMID:40225914
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:1605414	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:10348	blepharophimosis		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1059	intellectual disability		ISO	RGD:1605414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:12849	autistic disorder		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868|PMID:26938441|PMID:26974950
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1605414	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1605414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5419	schizophrenia		ISO	RGD:1605414	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:26974950|PMID:28492532|PMID:32346159
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1605414	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32346159
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:37000069
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1605414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12118969	SETD1A	SET domain containing 1A, histone lysine methyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12118992	GPR101	G protein-coupled receptor 101	gene	DOID:0112007	growth hormone secreting pituitary adenoma 2		ISO	RGD:1344763	D	RGD:7240710	20180130	OMIM			
12118992	GPR101	G protein-coupled receptor 101	gene	DOID:0112007	growth hormone secreting pituitary adenoma 2		ISO	RGD:1344763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GPR101-related condition | ClinVar Annotator: match by term: PITUITARY ADENOMA 2, GROWTH HORMONE-SECRETING | ClinVar Annotator: match by term: Pituitary adenoma, growth hormone-secreting, 2	PMID:25741868|PMID:25806920|PMID:26792934|PMID:27245663|PMID:28492532
12118992	GPR101	G protein-coupled receptor 101	gene	DOID:6255	growth hormone secreting pituitary adenoma		ISO	RGD:1344763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:1909	melanoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:3275	thymoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12118998	SPNS3	SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119026	BMF	Bcl2 modifying factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119026	BMF	Bcl2 modifying factor	gene	DOID:1909	melanoma		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119026	BMF	Bcl2 modifying factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119026	BMF	Bcl2 modifying factor	gene	DOID:4362	cervical cancer		ISO	RGD:1342866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119026	BMF	Bcl2 modifying factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12119026	BMF	Bcl2 modifying factor	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12119026	BMF	Bcl2 modifying factor	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1342866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770605
12119026	BMF	Bcl2 modifying factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119026	BMF	Bcl2 modifying factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1312290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:25741868
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:25741868|PMID:27894351|PMID:29209597
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0070703	Meckel syndrome 14		ISO	RGD:1312290	D	RGD:7240710	20220518	OMIM			
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0070703	Meckel syndrome 14		ISO	RGD:1312290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MECKEL SYNDROME 14 | ClinVar Annotator: match by term: TXNDC15-related condition	PMID:25741868|PMID:27894351|PMID:28492532|PMID:30851085
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1312290	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:25741868
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:10534	stomach cancer		ISO	RGD:1312290	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:4362	cervical cancer		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119044	TXNDC15	thioredoxin domain containing 15	gene	DOID:630	genetic disease		ISO	RGD:1312290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12119053	OC90	otoconin 90	gene	DOID:3426	vestibular disease		ISO	RGD:1606848	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21269433
12119053	OC90	otoconin 90	gene	DOID:4362	cervical cancer		ISO	RGD:1606848	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119070	TMEM263	transmembrane protein 263	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119070	TMEM263	transmembrane protein 263	gene	DOID:1324	lung cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119070	TMEM263	transmembrane protein 263	gene	DOID:4362	cervical cancer		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119070	TMEM263	transmembrane protein 263	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12119080	MALSU1	mitochondrial assembly of ribosomal large subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119088	LOC611347	uncharacterized LOC611347	gene	DOID:9970	obesity		ISO	RGD:68388	D	RGD:9068941	20200609	RGD			PMID:17706946|REF_RGD_ID:1642093
12119088	LOC611347	uncharacterized LOC611347	gene	DOID:9970	obesity		ISO	RGD:68565	D	RGD:9068941	20200609	RGD			PMID:15448684|REF_RGD_ID:1642095
12119111	UBE2N	ubiquitin conjugating enzyme E2 N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119111	UBE2N	ubiquitin conjugating enzyme E2 N	gene	DOID:9004994	Embryo Loss		ISO	RGD:1348630	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:16738225
12119111	UBE2N	ubiquitin conjugating enzyme E2 N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119122	MS4A13	membrane spanning 4-domains A13	gene	DOID:10534	stomach cancer		ISO	RGD:1606059	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119122	MS4A13	membrane spanning 4-domains A13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12119122	MS4A13	membrane spanning 4-domains A13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119122	MS4A13	membrane spanning 4-domains A13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119140	POPDC3	popeye domain cAMP effector 3	gene	DOID:0061131	autosomal recessive limb-girdle muscular dystrophy type 26		ISO	RGD:1343916	D	RGD:7240710	20200429	OMIM			
12119140	POPDC3	popeye domain cAMP effector 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119154	MIR197	microRNA mir-197	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1348973	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27716620
12119154	MIR197	microRNA mir-197	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1348973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12119154	MIR197	microRNA mir-197	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1348973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12119154	MIR197	microRNA mir-197	gene	DOID:9452	steatotic liver disease		ISO	RGD:1348973	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12119237	PUS3	pseudouridine synthase 3	gene	DOID:9000355	Neurodevelopmental Disorder with Microcephaly and Gray Sclerae		ISO	RGD:1345902	D	RGD:7240710	20190315	OMIM			
12119252	OR2Z1	olfactory receptor family 2 subfamily Z member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347587	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12119252	OR2Z1	olfactory receptor family 2 subfamily Z member 1	gene	DOID:10283	prostate cancer		ISO	RGD:1347587	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12119257	PCDH8	protocadherin 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
12119270	GFOD1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1323002	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
12119270	GFOD1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119270	GFOD1	Gfo/Idh/MocA-like oxidoreductase domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:7240710	20190315	OMIM			
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0070744	early childhood-onset progressive leukodystrophy		ISO	RGD:1346570	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACER3-related condition | ClinVar Annotator: match by term: Alkaline ceramidase 3 deficiency | ClinVar Annotator: match by term: LEUKODYSTROPHY, PROGRESSIVE, EARLY CHILDHOOD-ONSET	PMID:25741868|PMID:26792856|PMID:28492532|PMID:30575723|PMID:36939041
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1346570	D	RGD:9068941	20200716	RGD		mRNA:increased expression:liver	PMID:31949129|REF_RGD_ID:35673324
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:31949129|REF_RGD_ID:35673324
12119308	ACER3	alkaline ceramidase 3	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:31949129|REF_RGD_ID:35673324
12119308	ACER3	alkaline ceramidase 3	gene	DOID:10579	leukodystrophy		ISO	RGD:1346570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:1115	sarcoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:1324	lung cancer		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:1909	melanoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:219	colon cancer	severity	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD		associated with colitis	PMID:26938296|REF_RGD_ID:35673322
12119308	ACER3	alkaline ceramidase 3	gene	DOID:440	neuromuscular disease		ISO	RGD:1346570	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868
12119308	ACER3	alkaline ceramidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1346570	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346570	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346570	D	RGD:9068941	20200716	RGD			PMID:30097213|REF_RGD_ID:35673325
12119308	ACER3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis		ISO	RGD:1558553	D	RGD:9068941	20200716	RGD		mRNA,protein:decreased expression, decreased activity:colon:	PMID:26938296|REF_RGD_ID:35673322
12119308	ACER3	alkaline ceramidase 3	gene	DOID:9000099	Experimental Colitis	severity	ISO	RGD:1558553	D	RGD:9068941	20200716	RGD			PMID:26938296|REF_RGD_ID:35673322
12119308	ACER3	alkaline ceramidase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119308	ACER3	alkaline ceramidase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868
12119340	M1AP	meiosis 1 associated protein	gene	DOID:0112176	spermatogenic failure 48		ISO	RGD:1604532	D	RGD:7240710	20201209	OMIM			
12119340	M1AP	meiosis 1 associated protein	gene	DOID:0112176	spermatogenic failure 48		ISO	RGD:1604532	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: M1AP-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 48 | ClinVar Annotator: match by term: Spermatogenic failure 48 | ClinVar Annotator: match by term: spermatogenic failure 48	PMID:25741868|PMID:32017041|PMID:32673564
12119340	M1AP	meiosis 1 associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:12336	male infertility		ISO	RGD:1604532	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
12119340	M1AP	meiosis 1 associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604532	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119340	M1AP	meiosis 1 associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:1909	melanoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352501	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119375	GTF2H4	general transcription factor IIH subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352501	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1318522	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
12119403	AMN	amnion associated transmembrane protein	gene	DOID:13250	diarrhea		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia due to inborn errors of metabolism	PMID:12590260|PMID:15024727|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22631584|PMID:22929189|PMID:24044590|PMID:25741868|PMID:28492532|PMID:30691194|PMID:32045704|PMID:9536098
12119403	AMN	amnion associated transmembrane protein	gene	DOID:13382	megaloblastic anemia	susceptibility	ISO	RGD:1318522	D	RGD:9068941	20200609	RGD			PMID:12590260|REF_RGD_ID:1599101
12119403	AMN	amnion associated transmembrane protein	gene	DOID:2355	anemia		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:3021	acute kidney failure		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20514524
12119403	AMN	amnion associated transmembrane protein	gene	DOID:3275	thymoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1318522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:630	genetic disease		ISO	RGD:1318522	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9000197	Edema		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16938409|PMID:17698245
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		IAGP		D	RGD:12801476	20210603	OMIA		Intestinal cobalamin malabsorption, AMN-related	PMID:1848001|PMID:1999430|PMID:11023127|PMID:14722725|PMID:1941244|PMID:14576052|PMID:15845892|PMID:26483576|PMID:31758868
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Megaloblastic anemia 1, Finnish type | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:15024727|PMID:16199547|PMID:17285242|PMID:17576681|PMID:21750092|PMID:22078000|PMID:22929189|PMID:24044590|PMID:24156255|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:32045704|PMID:6741523|PMID:9536098
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Enterocyte cobalamin malabsorption | ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: Imerslund-Gräsbeck syndrome 1 | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:13852753|PMID:16199547|PMID:17576681|PMID:21750092|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:6741523|PMID:9536098
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9006481	Imerslund-Grasbeck Syndrome 1		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enterocyte intrinsic factor receptor, defect of | ClinVar Annotator: match by term: PERNICIOUS ANEMIA, JUVENILE, DUE TO SELECTIVE INTESTINAL MALABSORPTION OF VITAMIN B12, WITH PROTEINURIA	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:9536098
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9006825	Imerslund-Grasbeck Syndrome		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome	PMID:12590260|PMID:16199547|PMID:17576681|PMID:22929189|PMID:25741868|PMID:28492532|PMID:30523278|PMID:33491342|PMID:33693455|PMID:9536098
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:7240710	20200610	OMIM			
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9007240	Imerslund-Grasbeck Syndrome 2		ISO	RGD:1318522	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMERSLUND-GRASBECK SYNDROME 2 | ClinVar Annotator: match by term: MEGALOBLASTIC ANEMIA, NORWEGIAN TYPE	PMID:12590260|PMID:22929189|PMID:25741868|PMID:26040326|PMID:28492532|PMID:30523278|PMID:33693455
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9008385	Vomiting		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1318522	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17698245
12119403	AMN	amnion associated transmembrane protein	gene	DOID:9637	stomatitis		ISO	RGD:1318522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stomatitis	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:0050891	adrenal cortical adenoma		ISO	RGD:1344608	D	RGD:9068941	20200609	RGD		associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human)	PMID:24855271|REF_RGD_ID:13515122
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:0070549	primary pigmented nodular adrenocortical disease 4		ISO	RGD:1344608	D	RGD:7240710	20180130	OMIM			
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:0070549	primary pigmented nodular adrenocortical disease 4		ISO	RGD:1344608	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4	PMID:24571724|PMID:24700472|PMID:24747643|PMID:24855271|PMID:25069672|PMID:27165862|PMID:27993330
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:0080182	mixed fibrolamellar hepatocellular carcinoma	susceptibility	ISO	RGD:1312337	D	RGD:9068941	20220204	RGD			PMID:28923495|REF_RGD_ID:151347843
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1344608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29341352
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:1059	intellectual disability		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:33058759
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:114	heart disease		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cardiac atrium morphology	PMID:25741868|PMID:33058759|PMID:33058795
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:1148	polydactyly		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868|PMID:33058759
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:1682	congenital heart disease		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:33058759|PMID:33058795
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:2316	brain ischemia		ISO	RGD:3389	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus, cerebral cortex, nucleus	PMID:12150772|REF_RGD_ID:7327190
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:2696	Leydig cell tumor		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leydig cell tumor	PMID:24571724|PMID:24747643|PMID:25069672|PMID:25750087|PMID:27993330|PMID:28369983|PMID:31276155
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:3275	thymoma		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26258846
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:5015	fibrolamellar carcinoma		ISO	RGD:1312336	D	RGD:9068941	20220204	RGD		mRNA,protein:increased expression:liver (human)	PMID:27027723|REF_RGD_ID:151347845
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1344608	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:1344608	D	RGD:9068941	20200609	RGD			PMID:10830164|REF_RGD_ID:1580714
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:670	amphetamine abuse	treatment	ISO	RGD:3389	D	RGD:9068941	20231216	RGD		protein:increased expression, increased phosphorylation:nucleus accumbens, ventral tegmental area	PMID:31900897|REF_RGD_ID:401938636
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:1344608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747643
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:3389	D	RGD:9068941	20200609	RGD			PMID:7769990|REF_RGD_ID:7327191
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9004765	Cardioacrofacial Dysplasia 1		ISO	RGD:1344608	D	RGD:7240710	20210113	OMIM			
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9004765	Cardioacrofacial Dysplasia 1		ISO	RGD:1344608	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardioacrofacial dysplasia 1 | ClinVar Annotator: match by term: PRKACA-related condition	PMID:25741868|PMID:28492532|PMID:33058759|PMID:33058795
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25741868|PMID:33058759
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:33058759|PMID:33058795
12119413	PRKACA	protein kinase cAMP-activated catalytic subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344608	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:1324	lung cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:730868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119424	SLC15A1	solute carrier family 15 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119451	TP53	tumor protein p53	gene	DOID:0001816	angiosarcoma		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10930038|PMID:13678655|PMID:20737008
12119451	TP53	tumor protein p53	gene	DOID:0001816	angiosarcoma		ISO	RGD:11440	D	RGD:9068941	20220310	RGD		DNA:mutation:multiple (human)	PMID:26440310|REF_RGD_ID:151665099
12119451	TP53	tumor protein p53	gene	DOID:0001816	angiosarcoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10626228
12119451	TP53	tumor protein p53	gene	DOID:0002116	pterygium		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:altered expression:pterygia:	PMID:19065760|REF_RGD_ID:8547760
12119451	TP53	tumor protein p53	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:17066464|PMID:19542078|PMID:20522432|PMID:20805372|PMID:25741868|PMID:28492532|PMID:28509937|PMID:29070607|PMID:29263802|PMID:29324801|PMID:30076369|PMID:30796655|PMID:33300245|PMID:33758026
12119451	TP53	tumor protein p53	gene	DOID:0050685	small cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17290066
12119451	TP53	tumor protein p53	gene	DOID:0050700	cardiomyopathy		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:11429705|PMID:11782540|PMID:11896595|PMID:12826609|PMID:15221755|PMID:15580553|PMID:1581912|PMID:1591732|PMID:15925506|PMID:1631137|PMID:16818505|PMID:17311302|PMID:17606709|PMID:18689542|PMID:18818522|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22915647|PMID:23175693|PMID:23246812|PMID:23484829|PMID:24033266|PMID:24556621|PMID:24797764|PMID:25186627|PMID:25741868|PMID:25952993|PMID:26000489|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:27101868|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27866339|PMID:27895058|PMID:27959731|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29059199|PMID:29522266|PMID:29979965|PMID:30067863|PMID:30224644|PMID:30264118|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31119730|PMID:31948886|PMID:32029870|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33471991|PMID:33818021|PMID:34067731|PMID:34793666|PMID:34907344|PMID:35512711|PMID:35626031|PMID:35820297|PMID:35875466|PMID:35884425|PMID:37563628|PMID:38153744|PMID:38201513|PMID:7981076|PMID:8102535|PMID:8308926|PMID:8675009|PMID:9546439
12119451	TP53	tumor protein p53	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:11440	D	RGD:9068941	20260521	MouseDO			
12119451	TP53	tumor protein p53	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:11440	D	RGD:9068941	20220825	MouseDO		OMIM:214800	
12119451	TP53	tumor protein p53	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:8264230|REF_RGD_ID:13210753
12119451	TP53	tumor protein p53	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:20385474|REF_RGD_ID:8547851
12119451	TP53	tumor protein p53	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:11440	D	RGD:9068941	20220826	RGD		protein:increased expression:mouth (human)	PMID:34111459|REF_RGD_ID:153344573
12119451	TP53	tumor protein p53	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :multiple	PMID:27283772|REF_RGD_ID:14995497
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Medulloblastoma, somatic	PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27533082|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28915717|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Medulloblastoma | ClinVar Annotator: match by term: Medulloblastoma, somatic	PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15381368|PMID:15390294|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31119730|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:33245408|PMID:33257846|PMID:33372952|PMID:7732013|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:10089074|PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18511570|PMID:18685109|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:36988593|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8825920|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:10089074|PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12509279|PMID:12672316|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:17999388|PMID:18511570|PMID:18685109|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25294809|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32906206|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7887414|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8649776|PMID:8825920|PMID:8843196|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME	PMID:10089074|PMID:10411893|PMID:10797439|PMID:10864200|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12007217|PMID:12509279|PMID:12672316|PMID:12826609|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:15951970|PMID:1631137|PMID:16401470|PMID:1644930|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17308077|PMID:1737852|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:17999388|PMID:18511570|PMID:18685109|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22484423|PMID:22710932|PMID:22713868|PMID:22811390|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:25157968|PMID:25294809|PMID:25339994|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26230955|PMID:26271412|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28873162|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30546832|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32658383|PMID:32906206|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:35820297|PMID:36988593|PMID:7651740|PMID:7732013|PMID:7887414|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8649776|PMID:8825920|PMID:8843196|PMID:9096669|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9632751|PMID:9635828|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:0050902	medulloblastoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:11451203|REF_RGD_ID:8547823
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:70502	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:27992414
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:25412846|REF_RGD_ID:11057925
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutation: :	PMID:24836762|REF_RGD_ID:11073714
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome	no_association	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:SNP:cds: p.R72P(rs1042522)(human)	PMID:22668018|REF_RGD_ID:11073731
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:24043769|REF_RGD_ID:11073729
12119451	TP53	tumor protein p53	gene	DOID:0050908	myelodysplastic syndrome	treatment	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:25573287|REF_RGD_ID:11075071
12119451	TP53	tumor protein p53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:0060058	lymphoma		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:70502	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:10629033|PMID:12826609|PMID:1565144|PMID:16007150|PMID:17606709|PMID:20128691|PMID:21343334|PMID:25741868|PMID:28492532|PMID:29955864|PMID:29979965|PMID:30224644|PMID:32191290
12119451	TP53	tumor protein p53	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12119451	TP53	tumor protein p53	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12119451	TP53	tumor protein p53	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:28573231|REF_RGD_ID:14995494
12119451	TP53	tumor protein p53	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ductal breast carcinoma in situ	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:25157968|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28369373|PMID:28492532|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31775759|PMID:32000721|PMID:32906206|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9569050|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ductal breast carcinoma in situ	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29370077
12119451	TP53	tumor protein p53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:11665850	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3	PMID:28492532
12119451	TP53	tumor protein p53	gene	DOID:0080006	bone development disease		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9493073
12119451	TP53	tumor protein p53	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutation::p.R72P (human)	PMID:29560751|REF_RGD_ID:14995498
12119451	TP53	tumor protein p53	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adenocystic carcinoma	PMID:10713666|PMID:11479205|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12826609|PMID:16494995|PMID:16736287|PMID:1673792|PMID:16861262|PMID:1686725|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20128691|PMID:20522432|PMID:21343334|PMID:21626334|PMID:23259501|PMID:23625637|PMID:24033266|PMID:24384472|PMID:24728327|PMID:25503501|PMID:25584008|PMID:25741868|PMID:26270727|PMID:26467025|PMID:26619011|PMID:27489289|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29324801|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30720243|PMID:31775759|PMID:7707106|PMID:7881428|PMID:8080050|PMID:8364550|PMID:8869100
12119451	TP53	tumor protein p53	gene	DOID:0080202	adenoid cystic carcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:16249115|REF_RGD_ID:8547828
12119451	TP53	tumor protein p53	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:22699455|REF_RGD_ID:11075072
12119451	TP53	tumor protein p53	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:10411893|PMID:10567903|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11896595|PMID:12826609|PMID:12885464|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15381368|PMID:1565143|PMID:15722483|PMID:1591732|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:18685109|PMID:19225112|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20586629|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:21971842|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22265402|PMID:2259385|PMID:22661320|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:24078161|PMID:24140581|PMID:24332040|PMID:24436047|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25119136|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25757876|PMID:25768946|PMID:25945745|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26467025|PMID:26482474|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27121876|PMID:27189670|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27501770|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31395785|PMID:31775759|PMID:31802000|PMID:32000721|PMID:32475984|PMID:32601913|PMID:32817165|PMID:32906206|PMID:33087929|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34519829|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35195909|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37524847|PMID:39256213|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8208536|PMID:8308926|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9546439|PMID:9627118|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19225112|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20586629|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27121876|PMID:27189670|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31775759|PMID:31802000|PMID:32000721|PMID:32475984|PMID:32601913|PMID:32817165|PMID:32906206|PMID:33087929|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8401536|PMID:8633021|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0080704	medulloblastoma SHH activated and TP53 mutant		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated and TP53 mutant	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21163964|PMID:21971842|PMID:22427690|PMID:22722829|PMID:22820256|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27328919|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:31574483|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
12119451	TP53	tumor protein p53	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:11793474|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12885464|PMID:1565143|PMID:1591732|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19405127|PMID:19450127|PMID:19556618|PMID:19930417|PMID:20128691|PMID:21113594|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21971842|PMID:22052707|PMID:22427690|PMID:2259385|PMID:22653678|PMID:22661320|PMID:22803791|PMID:22832583|PMID:23246812|PMID:23538418|PMID:24140581|PMID:24332040|PMID:24436047|PMID:24705251|PMID:25119136|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:25768946|PMID:26061751|PMID:26138366|PMID:26467025|PMID:26585234|PMID:27501770|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29324801|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33433639|PMID:33692446|PMID:33772213|PMID:34166060|PMID:34796414|PMID:35101336|PMID:35332262|PMID:35604410|PMID:35820297|PMID:37030635|PMID:37185778|PMID:40335748|PMID:7783166|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:12826609|PMID:24705251|PMID:25741868|PMID:26482474|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29979965|PMID:30224644|PMID:34519829|PMID:35195909
12119451	TP53	tumor protein p53	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelium	PMID:16393253|REF_RGD_ID:8547841
12119451	TP53	tumor protein p53	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33692446|PMID:33772213|PMID:34848827|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:0081286	embryonal tumor with multilayered rosettes		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Embryonal tumor with multilayered rosettes	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:27553877|REF_RGD_ID:14995939
12119451	TP53	tumor protein p53	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29438700
12119451	TP53	tumor protein p53	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192917
12119451	TP53	tumor protein p53	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:20369488|REF_RGD_ID:8547768
12119451	TP53	tumor protein p53	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal cortical dysplasia	PMID:11429705|PMID:11782540|PMID:11896595|PMID:12826609|PMID:15221755|PMID:15580553|PMID:1581912|PMID:1591732|PMID:15925506|PMID:1631137|PMID:16818505|PMID:17311302|PMID:17606709|PMID:18689542|PMID:18818522|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22915647|PMID:23175693|PMID:23246812|PMID:23484829|PMID:24033266|PMID:24556621|PMID:24797764|PMID:25186627|PMID:25741868|PMID:25952993|PMID:26000489|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:27101868|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27866339|PMID:27895058|PMID:27959731|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29059199|PMID:29522266|PMID:29979965|PMID:30067863|PMID:30224644|PMID:30264118|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31119730|PMID:31948886|PMID:32029870|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33471991|PMID:33818021|PMID:34067731|PMID:34793666|PMID:34907344|PMID:35512711|PMID:35626031|PMID:35820297|PMID:35875466|PMID:35884425|PMID:37563628|PMID:38153744|PMID:38201513|PMID:7981076|PMID:8102535|PMID:8308926|PMID:8675009|PMID:9546439
12119451	TP53	tumor protein p53	gene	DOID:0110636	congenital merosin-deficient muscular dystrophy 1A		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy	PMID:124622|PMID:12826609|PMID:25326637|PMID:25741868|PMID:26619011|PMID:26681312|PMID:28492532|PMID:28973705|PMID:29875428|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LI-FRAUMENI SYNDROME 1 | ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	PMID:10206274|PMID:10366100|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10526004|PMID:10554037|PMID:10567903|PMID:10606817|PMID:10616528|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10980596|PMID:11007040|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11285227|PMID:11313981|PMID:11370630|PMID:11406645|PMID:11423991|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11523567|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11870884|PMID:11881786|PMID:11896595|PMID:11920959|PMID:12034820|PMID:12124823|PMID:12170762|PMID:12484572|PMID:12509279|PMID:12524418|PMID:12610779|PMID:12670525|PMID:12700230|PMID:12726864|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14965603|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15221755|PMID:15308588|PMID:1537617|PMID:15381368|PMID:15523690|PMID:15548685|PMID:15580553|PMID:1559227|PMID:1562462|PMID:15642401|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15710230|PMID:15722483|PMID:15781620|PMID:15781632|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16199547|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16543939|PMID:16633321|PMID:16682957|PMID:16687402|PMID:16736287|PMID:16757210|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17066464|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17318340|PMID:17361096|PMID:1737852|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17627286|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18410249|PMID:18414213|PMID:18453682|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19147582|PMID:19160491|PMID:19171880|PMID:19225112|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19462533|PMID:19468865|PMID:19542078|PMID:19556618|PMID:19681600|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:19958544|PMID:20010306|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20407015|PMID:20443084|PMID:20471942|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20575032|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:21056402|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21674059|PMID:21761402|PMID:21946351|PMID:21971842|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22356895|PMID:22427690|PMID:22507745|PMID:22534715|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22606048|PMID:22653678|PMID:22661320|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22733133|PMID:22800615|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22862161|PMID:22887876|PMID:22915647|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23117049|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23264849|PMID:23334666
12119451	TP53	tumor protein p53	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LI-FRAUMENI SYNDROME 1 | ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	PMID:23484829|PMID:23515929|PMID:23531339|PMID:23538418|PMID:23571737|PMID:23580068|PMID:23665223|PMID:23667851|PMID:23713777|PMID:23742673|PMID:23894400|PMID:23939625|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24113472|PMID:24140581|PMID:24219989|PMID:24251760|PMID:2425661|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24332040|PMID:24336192|PMID:24382691|PMID:24384472|PMID:24436047|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24594805|PMID:24603336|PMID:24634504|PMID:24675358|PMID:24677579|PMID:24682512|PMID:24705250|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24836762|PMID:24908601|PMID:24909177|PMID:24929325|PMID:24936644|PMID:24952746|PMID:25119136|PMID:25148739|PMID:25149524|PMID:25186627|PMID:25219808|PMID:25234657|PMID:25240281|PMID:25293557|PMID:2531845|PMID:25336695|PMID:25348012|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25527155|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25691460|PMID:25741868|PMID:25743702|PMID:25757876|PMID:25768946|PMID:2577752|PMID:25787918|PMID:25794615|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26070072|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26367797|PMID:26415226|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26482474|PMID:26484312|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26911350|PMID:26976419|PMID:27050224|PMID:27059324|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27141080|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27165744|PMID:27189670|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27443514|PMID:27463065|PMID:27496084|PMID:27501770|PMID:27523101|PMID:27545002|PMID:27557517|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27756888|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28098136|PMID:28135048|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28452373|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28744014|PMID:28767289|PMID:28772286|PMID:28780976|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28949402|PMID:28966033|PMID:28975465|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29118384|PMID:29126202|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29625052|PMID:29666004|PMID:29706651|PMID:29752822|PMID:29753700|PMID:29763623|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29933636|PMID:29955864|PMID:29958926|PMID:29979956|PMID:29979965|PMID:30051528|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30107044|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30318520|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30607672|PMID:30613367|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30840781|PMID:30980208|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31320401|PMID:31321604|PMID:31395785|PMID:31462179|PMID:31472337
12119451	TP53	tumor protein p53	gene	DOID:0111503	Li-Fraumeni syndrome 1		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LI-FRAUMENI SYNDROME 1 | ClinVar Annotator: match by term: Li-Fraumeni syndrome 1	PMID:31533767|PMID:31567591|PMID:31605946|PMID:31637714|PMID:31748977|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32126783|PMID:32179180|PMID:32183364|PMID:32191290|PMID:32310940|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32453797|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32577752|PMID:32601264|PMID:32601913|PMID:32619305|PMID:32658383|PMID:32675277|PMID:32722796|PMID:32784519|PMID:32817165|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33249490|PMID:33257846|PMID:33259802|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33433639|PMID:33471991|PMID:33504652|PMID:33534120|PMID:33580201|PMID:33633026|PMID:33637876|PMID:33692446|PMID:33758026|PMID:33772213|PMID:33818021|PMID:33840814|PMID:33850299|PMID:33854152|PMID:33924934|PMID:33932062|PMID:34045312|PMID:34067731|PMID:34166060|PMID:34169762|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34519829|PMID:34529667|PMID:34599283|PMID:34679713|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34881245|PMID:34906512|PMID:34907344|PMID:35033608|PMID:35101336|PMID:35195909|PMID:35264596|PMID:35306447|PMID:35332262|PMID:35352025|PMID:35419288|PMID:35441217|PMID:35451682|PMID:35484874|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36168441|PMID:36290365|PMID:36457625|PMID:36534940|PMID:36963804|PMID:36964217|PMID:36988593|PMID:37030635|PMID:37067901|PMID:37067911|PMID:37562436|PMID:37563628|PMID:37623222|PMID:37653074|PMID:38153744|PMID:38201513|PMID:38645101|PMID:38702830|PMID:38867333|PMID:3894400|PMID:39060302|PMID:39387369|PMID:39451213|PMID:39520074|PMID:39536727|PMID:39774325|PMID:39842935|PMID:40119744|PMID:40543052|PMID:6736287|PMID:7599045|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8308926|PMID:8336941|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8834542|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9164685|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9524109|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9627118|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9764816|PMID:9792154|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:70502	D	RGD:9068941	20220721	RGD		DNA:mutations:cds: (human)	PMID:28218421|REF_RGD_ID:153297765
12119451	TP53	tumor protein p53	gene	DOID:10283	prostate cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:12826609|PMID:21343334|PMID:22661320|PMID:24705251|PMID:25741868|PMID:27993330|PMID:28492532|PMID:28966033|PMID:29189820|PMID:29979965|PMID:30224644|PMID:33433639|PMID:34796414|PMID:8023157
12119451	TP53	tumor protein p53	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18225585|REF_RGD_ID:2290535
12119451	TP53	tumor protein p53	gene	DOID:10534	stomach cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10519380|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11370630|PMID:11391594|PMID:11782540|PMID:11793474|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15173255|PMID:15580553|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16778209|PMID:16818505|PMID:16861262|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17361096|PMID:17417775|PMID:17606709|PMID:17727479|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18772396|PMID:18772890|PMID:19367569|PMID:19556618|PMID:19714488|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21113594|PMID:21163964|PMID:21232794|PMID:21343334|PMID:21512767|PMID:21519010|PMID:21761402|PMID:21971842|PMID:22186996|PMID:22427690|PMID:22652532|PMID:22710932|PMID:22713868|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23246812|PMID:23484829|PMID:23538418|PMID:23894400|PMID:24033266|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24332040|PMID:24382691|PMID:24705251|PMID:24728327|PMID:24835218|PMID:24868540|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25527155|PMID:25637381|PMID:25741868|PMID:25768946|PMID:25952993|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26786923|PMID:26919320|PMID:27276561|PMID:27328919|PMID:27463065|PMID:27557517|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28492532|PMID:28545823|PMID:28726821|PMID:28772286|PMID:28861920|PMID:28912153|PMID:28966033|PMID:29247016|PMID:29300620|PMID:29763623|PMID:29802247|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30374176|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31159747|PMID:31300551|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31786208|PMID:32000721|PMID:32156018|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32980694|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33692446|PMID:33772213|PMID:33840814|PMID:34166060|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34863587|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35802772|PMID:35820297|PMID:35974385|PMID:36980780|PMID:36988593|PMID:37030635|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8198984|PMID:8203469|PMID:8550239|PMID:8718514|PMID:9164685|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:10534	stomach cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12670525|PMID:12726864|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15925506|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18628487|PMID:19367287|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20443084|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22319594|PMID:22427690|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23939625|PMID:24078161|PMID:24140581|PMID:24307375|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25612911|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26818906|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27557517|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29706651|PMID:29763623|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30709381|PMID:30720243|PMID:30840781|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33300245|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35820297|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37030635|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9164685|PMID:9242456|PMID:9524109|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:10652	Alzheimer's disease		ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:17581637|REF_RGD_ID:2290573
12119451	TP53	tumor protein p53	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R72P(human)	PMID:23049825|REF_RGD_ID:8547822
12119451	TP53	tumor protein p53	gene	DOID:10763	hypertension		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12119451	TP53	tumor protein p53	gene	DOID:10811	nasal cavity cancer		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:19950227|REF_RGD_ID:8547762
12119451	TP53	tumor protein p53	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:tympanic membrane,skin:	PMID:9455944|REF_RGD_ID:8547787
12119451	TP53	tumor protein p53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10519380|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16778209|PMID:16818505|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17417775|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18772396|PMID:18772890|PMID:19556618|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21113594|PMID:21163964|PMID:21343334|PMID:21519010|PMID:21761402|PMID:21971842|PMID:22186996|PMID:22427690|PMID:22713868|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24332040|PMID:24382691|PMID:24705251|PMID:24835218|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:25768946|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26585234|PMID:26786923|PMID:26919320|PMID:27276561|PMID:27463065|PMID:27557517|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29247016|PMID:29763623|PMID:29802247|PMID:29979965|PMID:30224644|PMID:30326163|PMID:30327374|PMID:30816478|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:32980694|PMID:33120919|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33840814|PMID:34166060|PMID:34529667|PMID:34670578|PMID:34709361|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35820297|PMID:35974385|PMID:36988593|PMID:37030635|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9164685|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9627118|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17361096|PMID:17417775|PMID:17606709|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18772396|PMID:18772890|PMID:19101993|PMID:19367569|PMID:19556618|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20593220|PMID:20805372|PMID:21113594|PMID:21118481|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22427690|PMID:22661320|PMID:22713868|PMID:22810696|PMID:22820256|PMID:22822097|PMID:22832583|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23484829|PMID:23538418|PMID:23630318|PMID:23965232|PMID:24033266|PMID:24065105|PMID:24078161|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24332040|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24702488|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25256166|PMID:25404506|PMID:25433984|PMID:25612911|PMID:25741868|PMID:25765855|PMID:25768946|PMID:25952993|PMID:26061751|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26257827|PMID:26467025|PMID:26585234|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26919320|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27557517|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29247016|PMID:29478780|PMID:29489754|PMID:29763623|PMID:29793804|PMID:29802247|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30816478|PMID:31395785|PMID:31477716|PMID:31802000|PMID:32000721|PMID:32156018|PMID:32601913|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33120919|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33840814|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34529667|PMID:34670578|PMID:34709361|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35820297|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37030635|PMID:37185778|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8550239|PMID:9164685|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12726864|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22427690|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24140581|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27557517|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28912153|PMID:28966033|PMID:29478780|PMID:29489754|PMID:29763623|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33120919|PMID:33138793|PMID:33300245|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35820297|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37030635|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9164685|PMID:9242456|PMID:9546439|PMID:9627118|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:18208803|REF_RGD_ID:2290536
12119451	TP53	tumor protein p53	gene	DOID:1107	esophageal carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar Annotator: match by term: Esophageal carcinoma, somatic	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10732753|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15221755|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:17999388|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21188122|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627
12119451	TP53	tumor protein p53	gene	DOID:1107	esophageal carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus | ClinVar Annotator: match by term: Esophageal carcinoma | ClinVar Annotator: match by term: Esophageal carcinoma, somatic	PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26655088|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36219266|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:1115	sarcoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:18989156|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29753700|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32784519|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7651740|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:1115	sarcoma	onset	ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:21854749|REF_RGD_ID:11075090
12119451	TP53	tumor protein p53	gene	DOID:1115	sarcoma	treatment	ISO	RGD:70502	D	RGD:9068941	20220303	RGD			PMID:31089155|REF_RGD_ID:151660332
12119451	TP53	tumor protein p53	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1317101	D	RGD:9068941	20221103	RGD			PMID:25197075|REF_RGD_ID:155641238
12119451	TP53	tumor protein p53	gene	DOID:1123	spondyloarthropathy		ISO	RGD:1615620	D	RGD:9068941	20200609	RGD			PMID:29494633|REF_RGD_ID:14995936
12119451	TP53	tumor protein p53	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:26431790|REF_RGD_ID:11537057
12119451	TP53	tumor protein p53	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22000973
12119451	TP53	tumor protein p53	gene	DOID:12336	male infertility		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22773013
12119451	TP53	tumor protein p53	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.p.R72P(human)	PMID:17980001|REF_RGD_ID:8547807
12119451	TP53	tumor protein p53	gene	DOID:1240	leukemia		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:1240	leukemia	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow:	PMID:26524016|REF_RGD_ID:11073730
12119451	TP53	tumor protein p53	gene	DOID:1245	vulva cancer		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vulvar Cancer	PMID:15851479|PMID:16258005|PMID:17599946|PMID:17638920|PMID:18199664|PMID:18393224|PMID:19165225|PMID:19224462|PMID:19523860|PMID:19625214|PMID:20182602|PMID:20443084|PMID:20449797|PMID:20520810|PMID:21619694|PMID:21672450|PMID:22729912|PMID:22744426|PMID:23624782|PMID:23887774|PMID:24033266|PMID:24728327|PMID:25034526|PMID:25169539|PMID:25339039|PMID:25584008|PMID:25741868|PMID:25980754|PMID:26976419|PMID:27034505|PMID:27484708|PMID:28492532|PMID:28528518|PMID:28649645|PMID:35101336|PMID:36059664|PMID:36329109|PMID:8352280
12119451	TP53	tumor protein p53	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:26004897|REF_RGD_ID:13782348
12119451	TP53	tumor protein p53	gene	DOID:1324	lung cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10713666|PMID:12826609|PMID:16861262|PMID:18989156|PMID:25741868|PMID:28492532|PMID:28724667|PMID:29753700|PMID:29979965|PMID:30224644|PMID:30630526|PMID:32784519|PMID:32817165|PMID:33300245|PMID:35101336|PMID:7651740
12119451	TP53	tumor protein p53	gene	DOID:1350	paranasal sinus benign neoplasm		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:22575263|REF_RGD_ID:8547763
12119451	TP53	tumor protein p53	gene	DOID:1350	paranasal sinus benign neoplasm	treatment	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:23369851|REF_RGD_ID:8547764
12119451	TP53	tumor protein p53	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R72P(rs1042522)(human)	PMID:20357201|REF_RGD_ID:7387247
12119451	TP53	tumor protein p53	gene	DOID:13677	SAPHO syndrome		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19779722
12119451	TP53	tumor protein p53	gene	DOID:1380	endometrial cancer		ISO	RGD:11440	D	RGD:9068941	20220825	MouseDO		OMIM:608089	
12119451	TP53	tumor protein p53	gene	DOID:1389	polyneuropathy		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:10871862|PMID:11454518|PMID:11782540|PMID:12826609|PMID:16494995|PMID:16736287|PMID:16818505|PMID:17289876|PMID:17541742|PMID:17606709|PMID:18208484|PMID:19468865|PMID:20407015|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21626334|PMID:22186996|PMID:22915647|PMID:23246812|PMID:23259501|PMID:24033266|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24728327|PMID:24747642|PMID:25293557|PMID:25490274|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25925845|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:27165744|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28369373|PMID:28492532|PMID:28861920|PMID:29076966|PMID:29489754|PMID:29979965|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:31119730|PMID:32019277|PMID:33300245|PMID:33534120|PMID:34166060|PMID:35101336|PMID:39774325|PMID:7707106|PMID:7885831|PMID:8080050
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neoplasms	PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Neoplasms	PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:19127115|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25584008|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to | ClinVar Annotator: match by term: Neoplasms	PMID:10089074|PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31127191|PMID:31212162|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neoplasms	PMID:10089074|PMID:10411893|PMID:10519380|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12007217|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17881637|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19127115|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23265383|PMID:23538418|PMID:23612969|PMID:23667202|PMID:23792586|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30093976|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31127191|PMID:31212162|PMID:31559875|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33163847|PMID:33245408|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9482117|PMID:9546439|PMID:9569050|PMID:9598730|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10526004|PMID:10554037|PMID:10567903|PMID:10606817|PMID:10753186|PMID:10761705|PMID:10777217|PMID:10797439|PMID:10871862|PMID:10922393|PMID:11007040|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11406645|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11523567|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12034820|PMID:12124823|PMID:12170762|PMID:12484572|PMID:12700230|PMID:12726864|PMID:12759240|PMID:12759621|PMID:12826609|PMID:1394133|PMID:14965603|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15192123|PMID:15342977|PMID:1537617|PMID:15381368|PMID:1562462|PMID:15642401|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15925506|PMID:15977174|PMID:16229746|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16969106|PMID:17289876|PMID:17311302|PMID:17361096|PMID:17541742|PMID:17591842|PMID:17606709|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18410249|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18989156|PMID:19101993|PMID:19225112|PMID:19367287|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19468865|PMID:19556618|PMID:19671856|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20010306|PMID:20113312|PMID:20128691|PMID:20198344|PMID:20308654|PMID:20407015|PMID:20505364|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:21056402|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21643018|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22319594|PMID:22427690|PMID:22534715|PMID:22653678|PMID:22661320|PMID:22713868|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22862161|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23713777|PMID:23894400|PMID:23939625|PMID:24033266|PMID:24078161|PMID:24140581|PMID:24251760|PMID:24307375|PMID:24332040|PMID:24382691|PMID:24384472|PMID:24436047|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25293557|PMID:25336695|PMID:25365311|PMID:25433984|PMID:25490274|PMID:25584008|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25743702|PMID:25757876|PMID:25768946|PMID:2577752|PMID:25881545|PMID:25925845|PMID:25952993|PMID:26014290|PMID:26070072|PMID:26086041|PMID:26138366|PMID:26181206|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26415226|PMID:26425688|PMID:26467025|PMID:26482474|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26723900|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27165744|PMID:27189670|PMID:27210295|PMID:27276561|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27545002|PMID:27557517|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27756888|PMID:27813088|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28098136|PMID:28135048|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28843361|PMID:28861920|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29118384|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29625052|PMID:29706651|PMID:29752822|PMID:29753700|PMID:29763623|PMID:29875428|PMID:29933636|PMID:29979965|PMID:30051528|PMID:30057026|PMID:30076369|PMID:30089713|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30299350|PMID:30318520|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30607672|PMID:30613367
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:30630526|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31060593|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31278746|PMID:31296311|PMID:31395785|PMID:31533767|PMID:31637714|PMID:31775759|PMID:31802000|PMID:31881331|PMID:32000721|PMID:32019277|PMID:32393201|PMID:32453797|PMID:32475984|PMID:32504211|PMID:32577752|PMID:32601264|PMID:32601913|PMID:32619305|PMID:32658383|PMID:32784519|PMID:32817165|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33138793|PMID:33249490|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33534120|PMID:33646313|PMID:33692446|PMID:33753552|PMID:33772213|PMID:33924934|PMID:33932062|PMID:34045312|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34299313|PMID:34519829|PMID:34529667|PMID:34679713|PMID:34793697|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35050731|PMID:35101336|PMID:35195909|PMID:35264596|PMID:35332262|PMID:35352025|PMID:35451682|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36534940|PMID:36988593|PMID:37030635|PMID:38645101|PMID:38702830|PMID:38867333|PMID:39451213|PMID:39774325|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8336941|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8639798|PMID:8834542|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9157982|PMID:9164685|PMID:9242456|PMID:9290701|PMID:9331090|PMID:9407971|PMID:9524109|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:14566	disease of cellular proliferation	onset	ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:22917926|REF_RGD_ID:11075077
12119451	TP53	tumor protein p53	gene	DOID:1520	colon carcinoma		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15004724|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15825182|PMID:16489069|PMID:16596195|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17311302|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21187651|PMID:21288114|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21747090|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22919068|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24810334|PMID:24952744|PMID:25157968|PMID:25525159|PMID:25612911|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28154273|PMID:28234344|PMID:28369373|PMID:28492532|PMID:28573494|PMID:29056573|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31119730|PMID:31775759|PMID:31949278|PMID:32000721|PMID:32906206|PMID:33300245|PMID:33372952|PMID:33471991|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:1520	colon carcinoma		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11406645|PMID:11479205|PMID:11782540|PMID:12019170|PMID:12759240|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16199547|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20010306|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22653678|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23484829|PMID:23538418|PMID:23894400|PMID:24076587|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27619989|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29118384|PMID:2932480|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30588330|PMID:30840781|PMID:31105275|PMID:31395785|PMID:31567591|PMID:31775759|PMID:31802000|PMID:32000721|PMID:32393201|PMID:32601913|PMID:32832836|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33753552|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9627118|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:1520	colon carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11406645|PMID:11479205|PMID:11782540|PMID:12759240|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20010306|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23894400|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27493922|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29118384|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32393201|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33753552|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:161	keratosis		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16930632|PMID:28785074
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33580201|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8633021|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10408787|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:16401470|PMID:16489069|PMID:16596195|PMID:16644204|PMID:1673792|PMID:16818505|PMID:16861262|PMID:1686725|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19523860|PMID:19671856|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23625637|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24590827|PMID:24641375|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25157968|PMID:25169539|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29752822|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31422574|PMID:31749828|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32885271|PMID:33051313|PMID:33178583|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:35050731|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7881428|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8364550|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10408787|PMID:10435620|PMID:10606817|PMID:10864200|PMID:10922393|PMID:11040944|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14612556|PMID:14639659|PMID:14743206|PMID:15161705|PMID:15173255|PMID:1537617|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1562462|PMID:1565144|PMID:15659650|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16229746|PMID:1631137|PMID:16401470|PMID:16596195|PMID:16644204|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17311302|PMID:17436385|PMID:17540308|PMID:17541742|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18199664|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19367569|PMID:19416725|PMID:19454241|PMID:19523860|PMID:19671856|PMID:19701813|PMID:19714488|PMID:19913028|PMID:19933256|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20443084|PMID:20449797|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:21153778|PMID:21232794|PMID:21288114|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22311583|PMID:22356895|PMID:22652532|PMID:22710932|PMID:22768918|PMID:22811390|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24113472|PMID:24171036|PMID:24218030|PMID:2425661|PMID:24256616|PMID:24590827|PMID:24665023|PMID:24677579|PMID:24728327|PMID:24729566|PMID:24803582|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24952744|PMID:25034526|PMID:25169539|PMID:25318593|PMID:25339039|PMID:25365311|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26681312|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27484708|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28202063|PMID:28234344|PMID:28453743|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:29056573|PMID:29058119|PMID:29070607|PMID:29077256|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29489754|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31119730|PMID:31159747|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31422574|PMID:31719099|PMID:31749828|PMID:31786208|PMID:31882575|PMID:31949278|PMID:32000721|PMID:32318955|PMID:32504211|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32980694|PMID:33051313|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33471991|PMID:33580201|PMID:34676052|PMID:34863587|PMID:35050731|PMID:35802772|PMID:36329109|PMID:36980780|PMID:36988593|PMID:7732013|PMID:8198984|PMID:8203469|PMID:8352280|PMID:8423216|PMID:8710380|PMID:9242456|PMID:9290701|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10064694|PMID:10089074|PMID:10408787|PMID:10435620|PMID:10606817|PMID:10761705|PMID:10864200|PMID:11040944|PMID:11051239|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:1447251|PMID:14612556|PMID:14743206|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1562462|PMID:1565144|PMID:15781620|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16007150|PMID:16229746|PMID:1631137|PMID:16401470|PMID:16508005|PMID:16687402|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17498554|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17727479|PMID:17881637|PMID:18453682|PMID:18511570|PMID:18555592|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19671856|PMID:19701813|PMID:19714488|PMID:19714490|PMID:1978757|PMID:19806023|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21163964|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22265402|PMID:22356895|PMID:22652532|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22722829|PMID:22768918|PMID:22811390|PMID:22820256|PMID:22832583|PMID:22915647|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24113472|PMID:24120142|PMID:2425661|PMID:24256616|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24651015|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25010205|PMID:25123297|PMID:25157968|PMID:25186949|PMID:25219808|PMID:25223734|PMID:25226867|PMID:25318593|PMID:25365311|PMID:25490678|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26437033|PMID:26443480|PMID:26467025|PMID:26482474|PMID:26585234|PMID:26619011|PMID:26641009|PMID:26681312|PMID:26787237|PMID:26845104|PMID:26919320|PMID:26976419|PMID:27022024|PMID:27050224|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27741277|PMID:27759562|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28202063|PMID:28210881|PMID:28369373|PMID:28401334|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28513873|PMID:28573494|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28966033|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29620582|PMID:29763623|PMID:29802247|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30861589|PMID:30883245|PMID:30927420|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31276706|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31395785|PMID:31533767|PMID:31574483|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31776133|PMID:31786208|PMID:31881331|PMID:31882575|PMID:32002804|PMID:32187361|PMID:32318955|PMID:32393201|PMID:32457520|PMID:32504211|PMID:32554555
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:32642724|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32980694|PMID:33051313|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33433639|PMID:33471991|PMID:33545063|PMID:33580201|PMID:33741928|PMID:33753552|PMID:34240179|PMID:34273903|PMID:34282771|PMID:34519829|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34796414|PMID:34863587|PMID:34952640|PMID:35033608|PMID:35050731|PMID:35101336|PMID:35195909|PMID:35352025|PMID:35534704|PMID:35664418|PMID:35691725|PMID:35705558|PMID:35705560|PMID:35802772|PMID:36168441|PMID:36980780|PMID:36988593|PMID:37030635|PMID:37149759|PMID:37524847|PMID:38355628|PMID:39191445|PMID:39256213|PMID:39780207|PMID:39810221|PMID:41232303|PMID:7732013|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8198984|PMID:8203469|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8710380|PMID:9150393|PMID:9242456|PMID:9284834|PMID:9290701|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9598730|PMID:9667734|PMID:9766574|PMID:9825943|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10064694|PMID:10089074|PMID:10408787|PMID:10435620|PMID:10606817|PMID:10761705|PMID:10864200|PMID:11040944|PMID:11051239|PMID:11222779|PMID:11391594|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:1447251|PMID:14612556|PMID:14743206|PMID:15173255|PMID:15192123|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1562462|PMID:1565144|PMID:15781620|PMID:15951970|PMID:15964795|PMID:15982667|PMID:16007150|PMID:16229746|PMID:1631137|PMID:16401470|PMID:16508005|PMID:16687402|PMID:16818505|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17498554|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17727479|PMID:17881637|PMID:18453682|PMID:18511570|PMID:18555592|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19671856|PMID:19701813|PMID:19714488|PMID:19714490|PMID:1978757|PMID:19806023|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20118236|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21163964|PMID:21232794|PMID:21343334|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22228431|PMID:22265402|PMID:22356895|PMID:22652532|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22722829|PMID:22768918|PMID:22811390|PMID:22820256|PMID:22832583|PMID:22915647|PMID:22955915|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23469205|PMID:23484829|PMID:23580068|PMID:23667202|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24113472|PMID:24120142|PMID:2425661|PMID:24256616|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24651015|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24868540|PMID:24936644|PMID:25010205|PMID:25123297|PMID:25157968|PMID:25186949|PMID:25219808|PMID:25223734|PMID:25226867|PMID:25318593|PMID:25365311|PMID:25490678|PMID:25503501|PMID:25527155|PMID:25564201|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25787918|PMID:25925845|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26437033|PMID:26443480|PMID:26467025|PMID:26482474|PMID:26585234|PMID:26619011|PMID:26641009|PMID:26681312|PMID:26787237|PMID:26845104|PMID:26919320|PMID:26976419|PMID:27022024|PMID:27050224|PMID:27210295|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27741277|PMID:27759562|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28202063|PMID:28210881|PMID:28369373|PMID:28401334|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28513873|PMID:28573494|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28966033|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29489754|PMID:29620582|PMID:29763623|PMID:29802247|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30861589|PMID:30883245|PMID:30927420|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31276706|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31395785|PMID:31533767|PMID:31574483|PMID:31719099|PMID:31749828|PMID:31776133|PMID:31786208|PMID:31881331|PMID:31882575|PMID:32002804|PMID:32187361|PMID:32318955|PMID:32393201|PMID:32457520|PMID:32504211|PMID:32554555|PMID:32642724|PMID:32658383
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10408787|PMID:10435620|PMID:10486318|PMID:10606817|PMID:10713666|PMID:10761705|PMID:10864200|PMID:11051239|PMID:11222779|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12170762|PMID:12610779|PMID:12672316|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1394133|PMID:1447251|PMID:14612556|PMID:14743206|PMID:15121773|PMID:15192123|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15607980|PMID:15607981|PMID:1562462|PMID:1565144|PMID:15741269|PMID:15781620|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16229746|PMID:1631137|PMID:16401470|PMID:16494995|PMID:16750598|PMID:16818505|PMID:16861262|PMID:1686725|PMID:16933305|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17498554|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17881637|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18373486|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18940924|PMID:19046423|PMID:19171880|PMID:1920959|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19671856|PMID:19701813|PMID:19714490|PMID:19717094|PMID:1978757|PMID:19806023|PMID:19877175|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21080251|PMID:21163964|PMID:21192060|PMID:21343334|PMID:21440489|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21630152|PMID:21665242|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22186996|PMID:22228431|PMID:22265402|PMID:22356895|PMID:22455664|PMID:22619358|PMID:22661320|PMID:22713868|PMID:22722829|PMID:22768918|PMID:22811390|PMID:22820256|PMID:22832583|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23469205|PMID:23570263|PMID:23580068|PMID:2362563|PMID:23625637|PMID:23639312|PMID:23667202|PMID:23733769|PMID:23794094|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24113472|PMID:24120142|PMID:2425661|PMID:24256616|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24642672|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24857548|PMID:24884479|PMID:24936644|PMID:25010205|PMID:25123297|PMID:25157968|PMID:25186949|PMID:25219808|PMID:25223734|PMID:25226867|PMID:25318593|PMID:25326637|PMID:25365311|PMID:25490678|PMID:25564201|PMID:25584008|PMID:25736369|PMID:25741868|PMID:25773284|PMID:25787918|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26437033|PMID:26443480|PMID:26452166|PMID:26467025|PMID:26482474|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26641009|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26787237|PMID:26845104|PMID:26919320|PMID:26976419|PMID:27050224|PMID:27081505|PMID:27101110|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27601191|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27741277|PMID:27759562|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28091804|PMID:28135048|PMID:28210881|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28401334|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28513873|PMID:28573494|PMID:28724667|PMID:28726821|PMID:28756477|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28912153|PMID:28966033|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29489754|PMID:29620582|PMID:29752822|PMID:29763623|PMID:29775997
12119451	TP53	tumor protein p53	gene	DOID:1612	breast cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:29802247|PMID:29875428|PMID:29922827|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30240537|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30523111|PMID:30596752|PMID:30613367|PMID:30630526|PMID:30675318|PMID:30709875|PMID:30816478|PMID:30840781|PMID:30861589|PMID:30927420|PMID:30982232|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31127191|PMID:31276706|PMID:31278746|PMID:31296311|PMID:31395785|PMID:31494577|PMID:31533767|PMID:31574483|PMID:31744167|PMID:31748977|PMID:31776133|PMID:31881331|PMID:31882575|PMID:31978118|PMID:32002804|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32318955|PMID:32393201|PMID:32427313|PMID:32504211|PMID:32554555|PMID:32592449|PMID:32637605|PMID:32642724|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33056981|PMID:33178583|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33433639|PMID:33471991|PMID:33545063|PMID:33580201|PMID:33603772|PMID:33614491|PMID:33637564|PMID:33741928|PMID:33753552|PMID:34273903|PMID:34282771|PMID:34439241|PMID:34519829|PMID:34529667|PMID:34540492|PMID:34654685|PMID:34793697|PMID:34796414|PMID:34885220|PMID:34906512|PMID:34952640|PMID:35033608|PMID:35050731|PMID:35101336|PMID:35195909|PMID:35367578|PMID:35534704|PMID:35691725|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36003761|PMID:36168441|PMID:36329109|PMID:36988593|PMID:37030635|PMID:37149759|PMID:37179382|PMID:37524847|PMID:38182823|PMID:39191445|PMID:39256213|PMID:39780207|PMID:41232303|PMID:7732013|PMID:7881428|PMID:7978053|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8425176|PMID:8527048|PMID:9150393|PMID:9242456|PMID:9284834|PMID:9290701|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:11793474|PMID:12826609|PMID:17576681|PMID:18555592|PMID:20932800|PMID:20967502|PMID:25741868|PMID:26205489|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:34452612|PMID:9536098|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:1790	malignant mesothelioma		ISO	RGD:11440	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:37441092
12119451	TP53	tumor protein p53	gene	DOID:1790	malignant mesothelioma		ISO	RGD:70502	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
12119451	TP53	tumor protein p53	gene	DOID:1793	pancreatic cancer		ISO	RGD:11440	D	RGD:9068941	20230506	CTD		CTD Direct Evidence: marker/mechanism	PMID:23873029|PMID:26390243
12119451	TP53	tumor protein p53	gene	DOID:1793	pancreatic cancer		ISO	RGD:70502	D	RGD:9068941	20230506	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12119451	TP53	tumor protein p53	gene	DOID:1793	pancreatic cancer		ISO	RGD:70502	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	
12119451	TP53	tumor protein p53	gene	DOID:182	calcinosis		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29358327
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:2113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22540896|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22844452|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24766216|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29126202|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31775759|PMID:32000721|PMID:32475984|PMID:33372952|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19834951|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27523101|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32475984|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33758026|PMID:34026625|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:33087929|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Malignant melanoma | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: MELANOMA, MALIGNANT | ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10732753|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10732753|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10732753|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Malignant Melanoma Susceptibility | ClinVar Annotator: match by term: Malignant melanoma, somatic | ClinVar Annotator: match by term: Melanoma	PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:1909	melanoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119451	TP53	tumor protein p53	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:11440	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
12119451	TP53	tumor protein p53	gene	DOID:1967	leiomyosarcoma		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leiomyosarcoma	PMID:12826609|PMID:23334668|PMID:25741868|PMID:26580448|PMID:28492532|PMID:29489754|PMID:29979965|PMID:30224644|PMID:32000721
12119451	TP53	tumor protein p53	gene	DOID:2154	nephroblastoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
12119451	TP53	tumor protein p53	gene	DOID:219	colon cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10629033|PMID:12826609|PMID:1565144|PMID:16007150|PMID:17606709|PMID:20128691|PMID:21343334|PMID:25741868|PMID:28492532|PMID:29955864|PMID:29979965|PMID:30224644|PMID:32191290
12119451	TP53	tumor protein p53	gene	DOID:2234	focal epilepsy		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:11429705|PMID:11782540|PMID:11896595|PMID:12826609|PMID:15221755|PMID:15580553|PMID:1581912|PMID:1591732|PMID:15925506|PMID:1631137|PMID:16818505|PMID:17311302|PMID:17606709|PMID:18689542|PMID:18818522|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22915647|PMID:23175693|PMID:23246812|PMID:23484829|PMID:24033266|PMID:24556621|PMID:24797764|PMID:25186627|PMID:25741868|PMID:25952993|PMID:26000489|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:27101868|PMID:27276561|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27866339|PMID:27895058|PMID:27959731|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:29059199|PMID:29522266|PMID:29979965|PMID:30067863|PMID:30224644|PMID:30264118|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31119730|PMID:31948886|PMID:32029870|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33471991|PMID:33818021|PMID:34067731|PMID:34793666|PMID:34907344|PMID:35512711|PMID:35626031|PMID:35820297|PMID:35875466|PMID:35884425|PMID:37563628|PMID:38153744|PMID:38201513|PMID:7981076|PMID:8102535|PMID:8308926|PMID:8675009|PMID:9546439
12119451	TP53	tumor protein p53	gene	DOID:2316	brain ischemia		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19095966
12119451	TP53	tumor protein p53	gene	DOID:234	colon adenocarcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18989156|PMID:19556618|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28724667|PMID:28912153|PMID:28966033|PMID:29753700|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:30630526|PMID:32784519|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33300245|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:7651740|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:2394	ovarian cancer		ISO	RGD:70502	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:10435620|PMID:10519380|PMID:10922393|PMID:11370630|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16551709|PMID:16818505|PMID:17015838|PMID:17311302|PMID:17541742|PMID:17606709|PMID:18511570|PMID:18555592|PMID:19468865|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21761402|PMID:22186996|PMID:22811390|PMID:22915647|PMID:23246812|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24835218|PMID:25157968|PMID:25637381|PMID:25741868|PMID:25925845|PMID:25952993|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26786923|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29070607|PMID:29300620|PMID:29365323|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:32000721|PMID:32156018|PMID:32817165|PMID:32888145|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33840814|PMID:34529667|PMID:34709361|PMID:35974385|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7783166|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9572492|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:2394	ovarian cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:11793474|PMID:12826609|PMID:16209708|PMID:16489069|PMID:17311302|PMID:17591842|PMID:18511570|PMID:18555592|PMID:18628487|PMID:19556618|PMID:19759556|PMID:19834951|PMID:20198344|PMID:20522432|PMID:21761402|PMID:22540896|PMID:23196062|PMID:24251760|PMID:24382691|PMID:25741868|PMID:26619011|PMID:27328919|PMID:27501770|PMID:27993330|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31081129|PMID:31119730|PMID:34045312|PMID:35101336|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 1 | ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25422255|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27147571|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28873162|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32658383|PMID:33372952|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23742673|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25157968|PMID:25256166|PMID:25404506|PMID:25422255|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25907361|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28664506|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30816478|PMID:31105275|PMID:31321604|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32475984|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33372952|PMID:33471991|PMID:33840814|PMID:34088725|PMID:34503094|PMID:34529667|PMID:34709361|PMID:35043155|PMID:35802772|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23570263|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24634504|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25422255|PMID:25584008|PMID:25612911|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25907361|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29922827|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30588330
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:30596752|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31081129|PMID:31105275|PMID:31321604|PMID:31494577|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:21834035|PMID:21946351|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22653678|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23570263|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23713777|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24634504|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25422255|PMID:25584008|PMID:25612911|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25907361|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29922827|PMID:29956451
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7 | ClinVar Annotator: match by term: PTCH2-related condition	PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30143849|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30588330|PMID:30596752|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:21946351|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22653678|PMID:22703879|PMID:22706378|PMID:22729912|PMID:22744426|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23570263|PMID:23571737|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23713777|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24634504|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25422255|PMID:25584008|PMID:25612911|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25907361|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29922827|PMID:29956451|PMID:29979965|PMID:30042151
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30588330|PMID:30596752|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8242752|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 7	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:21946351|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22706378|PMID:22800615|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23580068|PMID:23713777|PMID:23742673|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24634504|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25907361|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27147571|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:12834296	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of prostate	PMID:26619011|PMID:28492532|PMID:29979965|PMID:33332384
12119451	TP53	tumor protein p53	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:12834296	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Prostate adenocarcinoma	PMID:26619011|PMID:28492532|PMID:33332384
12119451	TP53	tumor protein p53	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:12834334	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of prostate	PMID:11370630|PMID:12826609|PMID:1565143|PMID:1565144|PMID:19468865|PMID:21305319|PMID:21761402|PMID:22672556|PMID:25584008|PMID:25741868|PMID:26619011|PMID:27616075|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:2531	hematologic cancer		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutation::p.R337H (human)	PMID:28387921|REF_RGD_ID:14995484
12119451	TP53	tumor protein p53	gene	DOID:2626	choroid plexus papilloma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:2626	choroid plexus papilloma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS PAPILLOMA | ClinVar Annotator: match by term: PAPILLOMA OF CHOROID PLEXUS | ClinVar Annotator: match by term: Papilloma of choroid plexus	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22929185
12119451	TP53	tumor protein p53	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20250109	RGD		protein:increased expression:bladder	PMID:18270948|REF_RGD_ID:2290532
12119451	TP53	tumor protein p53	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:11440	D	RGD:9068941	20250724	MouseDO			
12119451	TP53	tumor protein p53	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutations	PMID:1540970|REF_RGD_ID:2290541
12119451	TP53	tumor protein p53	gene	DOID:2870	endometrial adenocarcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:1540970|REF_RGD_ID:2290541
12119451	TP53	tumor protein p53	gene	DOID:2871	endometrial carcinoma		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10761705|PMID:11920959|PMID:12826609|PMID:20407015|PMID:20522432|PMID:24810334|PMID:25741868|PMID:26467025|PMID:27050224|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31533767|PMID:31881331|PMID:35033608|PMID:35101336|PMID:36168441|PMID:37030635|PMID:7732013|PMID:9290701|PMID:9546439
12119451	TP53	tumor protein p53	gene	DOID:2871	endometrial carcinoma	severity	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelial cell, endometrium	PMID:18431720|REF_RGD_ID:2298525
12119451	TP53	tumor protein p53	gene	DOID:299	adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10797276|PMID:11798837|PMID:22484628
12119451	TP53	tumor protein p53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Li Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:10029073|PMID:10064694|PMID:10089074|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10526004|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10617466|PMID:10629033|PMID:10653977|PMID:10697617|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11007040|PMID:11051239|PMID:11124955|PMID:11139324|PMID:11180592|PMID:11229518|PMID:11263856|PMID:11285227|PMID:11313981|PMID:11359905|PMID:11370630|PMID:11399766|PMID:11406645|PMID:11420676|PMID:11423991|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11518751|PMID:11523567|PMID:11590071|PMID:11593407|PMID:11668476|PMID:11668501|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12019170|PMID:12034820|PMID:12124823|PMID:12170762|PMID:12484572|PMID:12509279|PMID:12610779|PMID:12670525|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12759240|PMID:12759621|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14559903|PMID:14587098|PMID:14612556|PMID:14673037|PMID:14743206|PMID:14965603|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15138567|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15288293|PMID:15308588|PMID:15342977|PMID:1537617|PMID:15381368|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15642401|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15710230|PMID:15722483|PMID:15781620|PMID:15781632|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16333835|PMID:16337994|PMID:16401470|PMID:16487937|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16687402|PMID:16723121|PMID:16736287|PMID:16754663|PMID:16757210|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17170001|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17361096|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17530187|PMID:17541742|PMID:17554785|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17606709|PMID:17724467|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17999388|PMID:18208484|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18410249|PMID:18453682|PMID:18477611|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18714371|PMID:18762572|PMID:18786442|PMID:18798306|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19101993|PMID:19147582|PMID:19160491|PMID:19171880|PMID:1918170|PMID:19225112|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19450127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19714490|PMID:19717094|PMID:19759556|PMID:19763152|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:19958544|PMID:20010306|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20307669|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20443084|PMID:20455025|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20505364|PMID:20514470|PMID:20516128|PMID:2052243|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20878954
12119451	TP53	tumor protein p53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Li Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21115975|PMID:21163964|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21311097|PMID:21339461|PMID:21343334|PMID:2134334|PMID:21345075|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21505135|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21643018|PMID:21674059|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21946351|PMID:21971842|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22406018|PMID:22427690|PMID:22507745|PMID:22534715|PMID:22540896|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22652532|PMID:22653678|PMID:22661320|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722829|PMID:22800615|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22829111|PMID:22832583|PMID:22862161|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923433|PMID:22999923|PMID:23031740|PMID:23117049|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23264849|PMID:23334666|PMID:23334668|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23531339|PMID:23538418|PMID:23571737|PMID:23580068|PMID:23612572|PMID:23612969|PMID:23665223|PMID:23713777|PMID:23733769|PMID:23742673|PMID:23863845|PMID:23894400|PMID:23897043|PMID:23939625|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24113472|PMID:24122735|PMID:24140581|PMID:24219989|PMID:24224046|PMID:2425661|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24330579|PMID:24332040|PMID:24336192|PMID:24382691|PMID:24384472|PMID:24436047|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24590827|PMID:24603336|PMID:24634504|PMID:24651012|PMID:24651015|PMID:24675358|PMID:24677579|PMID:24682512|PMID:24705251|PMID:24728327|PMID:24733378|PMID:24747642|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24908601|PMID:24909177|PMID:24929325|PMID:24936644|PMID:24940547|PMID:24952746|PMID:25010205|PMID:25119136|PMID:25131192|PMID:25148739|PMID:25149524|PMID:25186627|PMID:25186949|PMID:25219808|PMID:25223734|PMID:25226867|PMID:25234657|PMID:25240281|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25318593|PMID:25336695|PMID:25365311|PMID:25374282|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25743702|PMID:25757876|PMID:25768946|PMID:2577752|PMID:25794615|PMID:25877891|PMID:25881545|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26014290|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26138366|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26367797|PMID:26415226|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26482474|PMID:26484312|PMID:26514544|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26911350|PMID:26976419|PMID:27050224|PMID:27059324|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27165744|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27325016
12119451	TP53	tumor protein p53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Li Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:27328919|PMID:27341992|PMID:27391063|PMID:27443514|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27496084|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27756888|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28098136|PMID:28135048|PMID:28135145|PMID:28154273|PMID:28197804|PMID:28222664|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28452373|PMID:28472496|PMID:28475293|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28726821|PMID:28744014|PMID:28767289|PMID:28772286|PMID:28780976|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28949402|PMID:28966033|PMID:28975465|PMID:29058119|PMID:29059199|PMID:29069792|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29118384|PMID:29126202|PMID:29225734|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29706651|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29763623|PMID:29785153|PMID:29805046|PMID:29844874|PMID:29875428|PMID:29881993|PMID:29887214|PMID:29893455|PMID:29933636|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30051528|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30212483|PMID:30216591|PMID:3022464|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30318520|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30348990|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30613367|PMID:30630526|PMID:30653764|PMID:30661751|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30927420|PMID:30968154|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31133068|PMID:31147264|PMID:31159747|PMID:31168460|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31320401|PMID:31321604|PMID:31395785|PMID:31462179|PMID:31472337|PMID:31487013|PMID:31494577|PMID:31533767|PMID:31567591|PMID:31574483|PMID:31605946|PMID:31637714|PMID:31719099|PMID:31748977|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:31948886|PMID:31970404|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32126783|PMID:32179180|PMID:32183364|PMID:32187703|PMID:32191290|PMID:32291395|PMID:32310940|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32393201|PMID:32453797|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32577752|PMID:32601264|PMID:32601913|PMID:32619305|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32885271|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33249490|PMID:33257846|PMID:33259802|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33534120|PMID:33545063|PMID:33580201|PMID:33633026|PMID:33646313|PMID:33674644|PMID:33692446|PMID:33753552|PMID:33758026|PMID:33772213|PMID:33818021|PMID:33840814|PMID:33850299|PMID:33854152|PMID:33924934|PMID:33932062|PMID:34045312|PMID:34067731|PMID:34103665|PMID:34166060|PMID:34169762|PMID:34185076|PMID:34196900|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34504096|PMID:34519829|PMID:34529667|PMID:34599283|PMID:34663891|PMID:34674226|PMID:34679713|PMID:34709361|PMID:34739844|PMID:34754157|PMID:34793666
12119451	TP53	tumor protein p53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Li Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni Syndrome | ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:34793697|PMID:34796414|PMID:34805717|PMID:34881245|PMID:34906512|PMID:34907344|PMID:34994652|PMID:35033608|PMID:35050731|PMID:35101336|PMID:35171259|PMID:35195909|PMID:35264596|PMID:35306447|PMID:35332262|PMID:35352025|PMID:35419288|PMID:35441217|PMID:35451682|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36168441|PMID:36180576|PMID:36290365|PMID:36329109|PMID:36457625|PMID:36493725|PMID:36497448|PMID:36534940|PMID:36929449|PMID:36963804|PMID:36964217|PMID:36966138|PMID:36988593|PMID:37030635|PMID:37067901|PMID:37067911|PMID:37562436|PMID:37563628|PMID:37623222|PMID:37653074|PMID:37937776|PMID:38153744|PMID:38201513|PMID:38645101|PMID:38702830|PMID:38867333|PMID:3894400|PMID:39060302|PMID:39140857|PMID:39387369|PMID:39451213|PMID:39520074|PMID:39536727|PMID:39774325|PMID:39780207|PMID:39842935|PMID:40119744|PMID:40543052|PMID:41348740|PMID:6736287|PMID:7599045|PMID:7651437|PMID:7651740|PMID:7664239|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7767487|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7936651|PMID:7966399|PMID:7981076|PMID:8001119|PMID:8013454|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8208536|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8378080|PMID:8401536|PMID:8425176|PMID:8458321|PMID:8479743|PMID:8479749|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8685209|PMID:8688334|PMID:8834542|PMID:8843196|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9150393|PMID:9157982|PMID:9164685|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9405613|PMID:9407971|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9582268|PMID:96271118|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9723024|PMID:9766574|PMID:9792154|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:3021	acute kidney failure		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20603111
12119451	TP53	tumor protein p53	gene	DOID:305	carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17450239|PMID:9626339
12119451	TP53	tumor protein p53	gene	DOID:3052	Balkan nephropathy		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22071594
12119451	TP53	tumor protein p53	gene	DOID:3068	glioblastoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glioblastoma, somatic	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22354696|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24224046|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:3069	malignant astrocytoma		ISO	RGD:11440	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:20176786
12119451	TP53	tumor protein p53	gene	DOID:3069	malignant astrocytoma	susceptibility	ISO	RGD:1550157	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:cds:	PMID:24038521|REF_RGD_ID:13702858
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:2826609|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28476805|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30297838|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma	PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31775759|PMID:32000721|PMID:32295079|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10229196|PMID:10411893|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17540308|PMID:17576681|PMID:17606709|PMID:17636407|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19556618|PMID:1978757|PMID:19881536|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23538418|PMID:23667202|PMID:23792586|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8164043|PMID:8242631|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3	PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Ependymoma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11715068|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25157968|PMID:25339994|PMID:25460562|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26200271|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26743472|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28975465|PMID:29025599|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31206626|PMID:31300551|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34299313|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9472631|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:124622|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25326637|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28356770
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:35043155|PMID:35802772|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10629033|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:124622|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23028800|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25516983|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28166194|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:35043155|PMID:35802772|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10629033|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:124622|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20471942|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21665182|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23028800|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:27959731|PMID:27993330|PMID:28152038|PMID:28166194|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:35043155|PMID:35802772|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10629033|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:124622|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1359493|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23028800|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25525159|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28166194|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9	PMID:28453743|PMID:28472496|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:35043155|PMID:35802772|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10629033|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11040944|PMID:11051239|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:124622|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14559903|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17540308|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17881637|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18628487|PMID:18685109|PMID:19101993|PMID:19127115|PMID:1915267|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19714488|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22484423|PMID:2259385|PMID:22652532|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:23028800|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23403321|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24224046|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24868540|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25256166|PMID:25339994|PMID:25404506|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26024390|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27242894|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27533082
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Brainstem glioma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28154273|PMID:28166194|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28861920|PMID:28873162|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29875428|PMID:29945567|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32457520|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:33087929|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34529667|PMID:34670578|PMID:34675114|PMID:34676052|PMID:34709361|PMID:34793697|PMID:34863587|PMID:35043155|PMID:35047863|PMID:35802772|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36980780|PMID:36988593|PMID:38355628|PMID:38645101|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9825943|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10557074|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11040944|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22354696|PMID:22455664|PMID:22619358|PMID:22652532|PMID:22703879|PMID:22710932|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23403321|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24224046|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24651012|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27153395|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29769598|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30596752|PMID:30816478|PMID:30840781|PMID:30883245|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31159747|PMID:31321604|PMID:31494577|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32295079|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34240179|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35047863|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36980780|PMID:36988593|PMID:38645101|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8308926|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 9 | ClinVar Annotator: match by term: Malignant glioma	PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29769598|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30596752|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31159747|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31567591|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32295079|PMID:32322420|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35047863|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36980780|PMID:36988593|PMID:37653074|PMID:38645101|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8308926|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10557074|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11040944|PMID:11139324|PMID:11180592|PMID:11358831|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11429700|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11896595|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15173255|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16000567|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18628487|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21512767|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22233476|PMID:22354696|PMID:22455664|PMID:22619358|PMID:22652532|PMID:22653678|PMID:22703879|PMID:22710932|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23403321|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24224046|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24651012|PMID:24663046|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24810334|PMID:24835218|PMID:24868540|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25256166|PMID:25326637|PMID:25404506|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26086041|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27022024|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27153395|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27930734|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28152038
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Astrocytoma | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma	PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28984303|PMID:29070607|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29769598|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30596752|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31159747|PMID:31300551|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31567591|PMID:31719099|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32039725|PMID:32156018|PMID:32292755|PMID:32295079|PMID:32322420|PMID:32427313|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35047863|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36980780|PMID:36988593|PMID:37179382|PMID:37653074|PMID:38645101|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8242752|PMID:8308926|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8756654|PMID:8825920|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9446663|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GLIOMA SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Malignant glioma	PMID:10486318|PMID:10519380|PMID:10554037|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11040944|PMID:11370630|PMID:11391594|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15173255|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16007150|PMID:16401470|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16778209|PMID:16818505|PMID:16861262|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17361096|PMID:17417775|PMID:17576681|PMID:17606709|PMID:17727479|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18772396|PMID:18772890|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19714488|PMID:19850740|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21113594|PMID:21163964|PMID:21225465|PMID:21232794|PMID:21343334|PMID:21383700|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21637529|PMID:21761402|PMID:21971842|PMID:22186996|PMID:22203015|PMID:22354696|PMID:22427690|PMID:22652532|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23713777|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24224046|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24835218|PMID:24868540|PMID:25148739|PMID:25219808|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25503501|PMID:25527155|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26786923|PMID:26911350|PMID:26919320|PMID:27059324|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27463065|PMID:27557517|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28279309|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29247016|PMID:29300620|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29763623|PMID:29802247|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31159747|PMID:31278746|PMID:31300551|PMID:31472337|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:32000721|PMID:32156018|PMID:32322420|PMID:32475984|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32888145|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33840814|PMID:33850299|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34906512|PMID:35101336|PMID:35332262|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35820297|PMID:35974385|PMID:36980780|PMID:36988593|PMID:37030635|PMID:38645101|PMID:38702830|PMID:39520074|PMID:40543052|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8308926|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8756654|PMID:9164685|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9536098|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLIOMA SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Malignant glioma	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11040944|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12019170|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15173255|PMID:15381368|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199547|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17361096|PMID:17417775|PMID:17576681|PMID:17606709|PMID:17727479|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18772396|PMID:18772890|PMID:18989156|PMID:19101993|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19714488|PMID:19850740|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:21113594|PMID:21118481|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22354696|PMID:22427690|PMID:22495821|PMID:22652532|PMID:22653678|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22810696|PMID:22820256|PMID:22822097|PMID:22832583|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23409989|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23630318|PMID:23713777|PMID:23894400|PMID:23965232|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24078161|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24224046|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24573247|PMID:24677579|PMID:24702488|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24868540|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25256166|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25503501|PMID:25527155|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25765855|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26061751|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26257827|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26919320|PMID:27022024|PMID:27050224|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27501770|PMID:27557517|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28125078|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29247016|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29763623|PMID:29793804|PMID:29802247|PMID:29933636|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31159747|PMID:31278746|PMID:31300551|PMID:31395785|PMID:31472337|PMID:31477716
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: GLIOMA SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Glioma susceptibility 3 | ClinVar Annotator: match by term: Malignant glioma	PMID:31533767|PMID:31567591|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32156018|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33138793|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33840814|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35332262|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35820297|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36980780|PMID:36988593|PMID:37030635|PMID:37185778|PMID:38645101|PMID:38702830|PMID:39520074|PMID:40543052|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8308926|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8756654|PMID:9164685|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:3070	high grade glioma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLIOMA SUSCEPTIBILITY 1 | ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma	PMID:10411893|PMID:10486318|PMID:10554037|PMID:10761705|PMID:10797439|PMID:10871862|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11920959|PMID:12726864|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17576681|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20471942|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22354696|PMID:22427690|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24140581|PMID:24224046|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25148739|PMID:25219808|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25503501|PMID:25533637|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27557517|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29763623|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31081129|PMID:31089155|PMID:31278746|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33138793|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33772213|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34793697|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35332262|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38645101|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8308926|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8756654|PMID:9164685|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17274270
12119451	TP53	tumor protein p53	gene	DOID:3114	serous cystadenocarcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:16012716|REF_RGD_ID:8662305
12119451	TP53	tumor protein p53	gene	DOID:3121	gallbladder cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gallbladder cancer	PMID:11370630|PMID:12826609|PMID:15993273|PMID:16861262|PMID:18978813|PMID:19556618|PMID:20128691|PMID:21343334|PMID:21761402|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30720243|PMID:32817165|PMID:8688334
12119451	TP53	tumor protein p53	gene	DOID:3213	demyelinating disease		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18550754
12119451	TP53	tumor protein p53	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:10411893|PMID:10797439|PMID:10871862|PMID:11139324|PMID:11180592|PMID:11454518|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:12885464|PMID:15381368|PMID:1565143|PMID:15722483|PMID:1591732|PMID:16489069|PMID:16494995|PMID:16682957|PMID:16736287|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17289876|PMID:17541742|PMID:17606709|PMID:18208484|PMID:18511570|PMID:19367569|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20522432|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:21971842|PMID:22052707|PMID:22110706|PMID:22186996|PMID:2259385|PMID:22661320|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22862161|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:24033266|PMID:24078161|PMID:24140581|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24501221|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25119136|PMID:25293557|PMID:25490274|PMID:25612911|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25925845|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27165744|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27545002|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28861920|PMID:28966033|PMID:29070607|PMID:29076966|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30318520|PMID:30326163|PMID:30327374|PMID:30720243|PMID:31119730|PMID:31121848|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32019277|PMID:32601913|PMID:32658383|PMID:32906206|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33534120|PMID:33692446|PMID:33772213|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34679713|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:39774325|PMID:7707106|PMID:7783166|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:10411893|PMID:10432928|PMID:10519384|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:15580553|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17318340|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21483000|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24549055|PMID:24705251|PMID:24728327|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25896519|PMID:25952993|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28861920|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30327374|PMID:30352134|PMID:31016814|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7706467|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9067756|PMID:9242456|PMID:9285560|PMID:9470817|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:326	ischemia		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		associated with Wounds and Injuries;protein:increased expression:skin	PMID:18337831|REF_RGD_ID:2290551
12119451	TP53	tumor protein p53	gene	DOID:326	ischemia		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15172883
12119451	TP53	tumor protein p53	gene	DOID:3275	thymoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24974848
12119451	TP53	tumor protein p53	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17434459
12119451	TP53	tumor protein p53	gene	DOID:3347	osteosarcoma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:3347	osteosarcoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteosarcoma | ClinVar Annotator: match by term: Osteosarcoma, somatic	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:3376	bone osteosarcoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bone osteosarcoma	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:3393	coronary artery disease		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:misssense mutation: :p.R72P (rs1042522) (human)	PMID:29482350|REF_RGD_ID:14995930
12119451	TP53	tumor protein p53	gene	DOID:3407	carotid artery disease		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16973168
12119451	TP53	tumor protein p53	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:11440	D	RGD:9068941	20260521	RGD			PMID:11146550|REF_RGD_ID:2315939
12119451	TP53	tumor protein p53	gene	DOID:3459	breast carcinoma		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast	PMID:10411893|PMID:10432928|PMID:10519380|PMID:10589545|PMID:10797439|PMID:10922393|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15004724|PMID:15037740|PMID:15381368|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16199547|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17606709|PMID:18307025|PMID:18511570|PMID:19101993|PMID:19147582|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20522432|PMID:20805372|PMID:21159183|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23409989|PMID:23538418|PMID:23630318|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25564201|PMID:25741868|PMID:25952993|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26786923|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27463065|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28369373|PMID:28492532|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30327374|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32658383|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8550239|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9662334|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:3459	breast carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:12726864|PMID:12759621|PMID:12826609|PMID:12917626|PMID:15192123|PMID:15221755|PMID:15381368|PMID:15580553|PMID:1565143|PMID:15722483|PMID:1581912|PMID:1591732|PMID:15925506|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16778209|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17311302|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18818522|PMID:19147582|PMID:19367569|PMID:19556618|PMID:19671856|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:21059199|PMID:21060032|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23210734|PMID:23246812|PMID:23484829|PMID:23538418|PMID:24033266|PMID:24078161|PMID:24501221|PMID:24556621|PMID:24681953|PMID:24705251|PMID:24797764|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25186627|PMID:2531845|PMID:25365311|PMID:25408419|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26000489|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26822237|PMID:26845104|PMID:27101868|PMID:27121876|PMID:27276561|PMID:27276934|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28222664|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29933636|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30264118|PMID:30287823|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31119730|PMID:31168460|PMID:31395785|PMID:31802000|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32126783|PMID:32179180|PMID:32601913|PMID:32906206|PMID:32980694|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33471991|PMID:33818021|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34452612|PMID:34793666|PMID:34796414|PMID:34906512|PMID:34907344|PMID:35050731|PMID:35101336|PMID:35512711|PMID:35626031|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37563628|PMID:38153744|PMID:38201513|PMID:7791795|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8675009|PMID:9242456|PMID:9364015|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:3565	meningioma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:12759240|PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644|PMID:35101336
12119451	TP53	tumor protein p53	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29844410
12119451	TP53	tumor protein p53	gene	DOID:3606	ovarian mucinous adenocarcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian mucinous adenocarcinoma	PMID:16322298|PMID:23965232|PMID:26257827|PMID:27993330|PMID:29793804|PMID:31477716|PMID:35101336
12119451	TP53	tumor protein p53	gene	DOID:3702	cervical adenocarcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:17354237|REF_RGD_ID:2298527
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:10407479	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12826609|PMID:16508005|PMID:17401428|PMID:18511570|PMID:25503501|PMID:26014290|PMID:26619011|PMID:26845104|PMID:27533082|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:33471991|PMID:35938033
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:10767132	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:21232794|PMID:22768918|PMID:23894400|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:11089063	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12826609|PMID:15037740|PMID:16494995|PMID:16861262|PMID:21343334|PMID:25741868|PMID:26619011|PMID:27328919|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30709381|PMID:30720243|PMID:30840781|PMID:31775759|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:11093483	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11793474|PMID:12826609|PMID:1359493|PMID:16861262|PMID:20407015|PMID:2046748|PMID:25584008|PMID:25741868|PMID:26619011|PMID:28152038|PMID:28492532|PMID:29752822|PMID:29979965|PMID:30224644|PMID:9290701
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:11095864	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12826609|PMID:1565144|PMID:17540308|PMID:17606709|PMID:20516128|PMID:21484931|PMID:21535297|PMID:21552135|PMID:22484423|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:7651740|PMID:8479749|PMID:8649776|PMID:9242456
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12742567	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12826609|PMID:15925506|PMID:16494995|PMID:16861262|PMID:18511570|PMID:18628487|PMID:19367287|PMID:21343334|PMID:22319594|PMID:23939625|PMID:24307375|PMID:25741868|PMID:25925845|PMID:26619011|PMID:26818906|PMID:28492532|PMID:29470806|PMID:29979965|PMID:30224644|PMID:36988593|PMID:8023157
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834296	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:26619011|PMID:28492532|PMID:33332384
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834300	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:12826609|PMID:20407015|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834319	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:16474844|PMID:20407015|PMID:21343334|PMID:23967324|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:9407971
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834358	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:10864200|PMID:11793474|PMID:12826609|PMID:12917626|PMID:15017592|PMID:1565144|PMID:17308077|PMID:17540308|PMID:17606709|PMID:18685109|PMID:20693561|PMID:21343334|PMID:21484931|PMID:21535297|PMID:21552135|PMID:25339994|PMID:25584008|PMID:25741868|PMID:26014290|PMID:26619011|PMID:27724982|PMID:28492532|PMID:29979965|PMID:30224644|PMID:31748977|PMID:8164043|PMID:8479749|PMID:9242456|PMID:9407971
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834369	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:11051241|PMID:17724467|PMID:20505364|PMID:26619011|PMID:29979965
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834371	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12509279|PMID:12826609|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834484	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32000721
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12834770	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11370630|PMID:12826609|PMID:17606709|PMID:21343334|PMID:22109999|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12835051	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11180592|PMID:11593407|PMID:11920788|PMID:12826609|PMID:1565143|PMID:17311302|PMID:17606709|PMID:18628487|PMID:20128691|PMID:21343334|PMID:2259385|PMID:24122735|PMID:25119136|PMID:25741868|PMID:26619011|PMID:28492532|PMID:30720243
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12835689	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:32817165
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:12836427	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:16508005|PMID:17401428|PMID:18511570|PMID:20127978|PMID:20407015|PMID:20522432|PMID:25503501|PMID:25741868|PMID:26014290|PMID:26619011|PMID:26845104|PMID:27533082|PMID:28492532|PMID:29752822|PMID:29753700
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20250116	RGD		DNA:missense mutations, loss of heterozygosity:multiple	PMID:30554333|REF_RGD_ID:14995496
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:8598988	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:10629033|PMID:10922393|PMID:12826609|PMID:12917626|PMID:1565143|PMID:15722483|PMID:1631137|PMID:17311302|PMID:1978757|PMID:20128691|PMID:21343334|PMID:23406775|PMID:24122735|PMID:25584008|PMID:25741868|PMID:26205489|PMID:26619011|PMID:26681312|PMID:28492532|PMID:29979965|PMID:30224644|PMID:32295079
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:8658817	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:11896595|PMID:12509279|PMID:12726864|PMID:12826609|PMID:15077194|PMID:16633321|PMID:16861262|PMID:17530187|PMID:18511570|PMID:25433984|PMID:25741868|PMID:26014290|PMID:26497680|PMID:26619011|PMID:28369373|PMID:28477316|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:8658821	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of stomach	PMID:10432928|PMID:10589545|PMID:10922393|PMID:11139324|PMID:11782540|PMID:12826609|PMID:15037740|PMID:16818505|PMID:17015838|PMID:17606709|PMID:18307025|PMID:19101993|PMID:20028212|PMID:20128691|PMID:20407015|PMID:20593220|PMID:20805372|PMID:21118481|PMID:21343334|PMID:21356188|PMID:21519010|PMID:21761402|PMID:22186996|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23246812|PMID:23484829|PMID:23630318|PMID:24065105|PMID:24381225|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24702488|PMID:25256166|PMID:25404506|PMID:25741868|PMID:25765855|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30816478|PMID:36988593|PMID:8118819|PMID:9242456|PMID:9662334
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:8697372	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:15017592|PMID:16247456|PMID:16861262|PMID:20407015|PMID:21080251|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30630526|PMID:30840781
12119451	TP53	tumor protein p53	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:9852650	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Gastric adenocarcinoma	PMID:12826609|PMID:15037740|PMID:16861262|PMID:18511570|PMID:21319261|PMID:22710932|PMID:22983585|PMID:23165212|PMID:23175693|PMID:25584008|PMID:25741868|PMID:25787918|PMID:26619011|PMID:28492532|PMID:29070607|PMID:29979965|PMID:30224644|PMID:7651740|PMID:9096669|PMID:9290701|PMID:9635828
12119451	TP53	tumor protein p53	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:17969407|REF_RGD_ID:2298526
12119451	TP53	tumor protein p53	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12119451	TP53	tumor protein p53	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12119451	TP53	tumor protein p53	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:misssense mutation: :p.R72P (rs1042522) (human)	PMID:28789369|REF_RGD_ID:14995932
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:2259385|PMID:22672556|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28369373|PMID:28453743|PMID:28472496
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:33372952|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:10064694|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33471991|PMID:33758026|PMID:34026625|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25293557|PMID:2531845|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25619955|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30099178|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30546832|PMID:30630526|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34026625|PMID:34266904|PMID:34805717|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7750099|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16494995|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21343334|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27328919|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:30709381|PMID:30720243|PMID:30840781|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33300245|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9572492|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17290066|PMID:23435014|PMID:24688052|PMID:30381462
12119451	TP53	tumor protein p53	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:70502	D	RGD:9068941	20210910	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
12119451	TP53	tumor protein p53	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:12700230|PMID:12826609|PMID:19405127|PMID:19450127|PMID:19930417|PMID:21484931|PMID:22653678|PMID:23246812|PMID:25741868|PMID:27501770|PMID:27993330|PMID:28492532|PMID:29324801|PMID:29979965|PMID:30224644|PMID:35101336
12119451	TP53	tumor protein p53	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma | ClinVar Annotator: match by term: Adrenocortical carcinoma	PMID:10064694|PMID:10411893|PMID:10797439|PMID:10871862|PMID:10980596|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11454518|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12826609|PMID:15381368|PMID:15541116|PMID:15580553|PMID:15642401|PMID:1565143|PMID:15722483|PMID:16199547|PMID:16443602|PMID:16489069|PMID:16494995|PMID:16682957|PMID:16736287|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17289876|PMID:17541742|PMID:17606709|PMID:17974978|PMID:18208484|PMID:18413811|PMID:18511570|PMID:18555592|PMID:18818522|PMID:19367569|PMID:19468865|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20308654|PMID:20407015|PMID:20522432|PMID:20589832|PMID:20805372|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22507745|PMID:22534715|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:24033266|PMID:24078161|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24501221|PMID:24651015|PMID:24675358|PMID:24681808|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24810334|PMID:24814347|PMID:24909177|PMID:24952746|PMID:25219808|PMID:25293557|PMID:25336695|PMID:25490274|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25925845|PMID:25952993|PMID:26138366|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681682|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27165744|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27657329|PMID:27680515|PMID:27683180|PMID:27754743|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:28861920|PMID:28912153|PMID:28961258|PMID:28966033|PMID:29070607|PMID:29076966|PMID:29478780|PMID:29489754|PMID:29763623|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31050713|PMID:31119730|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32019277|PMID:32401780|PMID:32552660|PMID:32601913|PMID:32817165|PMID:32906206|PMID:33249490|PMID:33300245|PMID:33471991|PMID:33534120|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34308104|PMID:34599283|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35306447|PMID:35974385|PMID:36457625|PMID:36534940|PMID:36988593|PMID:39774325|PMID:7624116|PMID:7707106|PMID:7731702|PMID:7761089|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8118819|PMID:8649785|PMID:9242456|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9704930|PMID:9704931
12119451	TP53	tumor protein p53	gene	DOID:3969	papillary thyroid carcinoma	susceptibility	ISO	RGD:70502	D	RGD:9068941	20231026	RGD		associated with Radiation-Induced Neoplasms;DNA:SNPs, haplotypes:exon 4: p.R72P (rs1042522) (human)	PMID:19286843|REF_RGD_ID:401850780
12119451	TP53	tumor protein p53	gene	DOID:4001	ovarian carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:10980596|PMID:12610779|PMID:16199547|PMID:20522432|PMID:25741868|PMID:26014290|PMID:26911350|PMID:28492532|PMID:33300245
12119451	TP53	tumor protein p53	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:4235	spindle cell sarcoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spindle cell sarcoma	PMID:12826609|PMID:1565143|PMID:17606709|PMID:19225112|PMID:19556618|PMID:20128691|PMID:20586629|PMID:21163964|PMID:21343334|PMID:21383700|PMID:22661320|PMID:22820256|PMID:22832583|PMID:22887876|PMID:23031740|PMID:23259501|PMID:24705251|PMID:25584008|PMID:25741868|PMID:26467025|PMID:26585234|PMID:26911350|PMID:27189670|PMID:27993330|PMID:28279309|PMID:28492532|PMID:28726821|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:32475984|PMID:32817165|PMID:33087929|PMID:33433639|PMID:34796414|PMID:35101336|PMID:35705558|PMID:35705560|PMID:8401536|PMID:8633021
12119451	TP53	tumor protein p53	gene	DOID:4247	coronary restenosis		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:14740296|REF_RGD_ID:1580742
12119451	TP53	tumor protein p53	gene	DOID:4362	cervical cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119451	TP53	tumor protein p53	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma | ClinVar Annotator: match by term: Renal cell carcinoma, somatic	PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16312222|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:4450	renal cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma	PMID:10064694|PMID:10366100|PMID:10432928|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10864200|PMID:10922393|PMID:11370630|PMID:11429705|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12034820|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14584079|PMID:15037740|PMID:15161705|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15850016|PMID:15925506|PMID:15977174|PMID:15982667|PMID:16206219|PMID:1631137|PMID:16312222|PMID:16401470|PMID:1644930|PMID:16494995|PMID:16508005|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17015838|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19147582|PMID:19171880|PMID:19336573|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19850740|PMID:19913028|PMID:20028212|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20506564|PMID:20522432|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22090360|PMID:22186996|PMID:22553460|PMID:22672556|PMID:22710932|PMID:22887876|PMID:22915647|PMID:22923379|PMID:22983585|PMID:23031740|PMID:23161690|PMID:23165212|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23630318|PMID:23894400|PMID:24033266|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24702488|PMID:24728327|PMID:25186627|PMID:25293557|PMID:25503501|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26066407|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26787237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27276561|PMID:27463065|PMID:27493922|PMID:27533082|PMID:27616075|PMID:27622479|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28975465|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30675318|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32885271|PMID:33208383|PMID:33332384|PMID:33407742|PMID:33471991|PMID:34026625|PMID:35938033|PMID:36988593|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7887414|PMID:8023157|PMID:8080050|PMID:8118819|PMID:8401536|PMID:8425176|PMID:8633021|PMID:8718514|PMID:8829627|PMID:8869100|PMID:9096669|PMID:9242456|PMID:9290701|PMID:9546439|PMID:9572492|PMID:9635828|PMID:9662334|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:17094408|REF_RGD_ID:2290544
12119451	TP53	tumor protein p53	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:28551630|REF_RGD_ID:15036804
12119451	TP53	tumor protein p53	gene	DOID:4468	clear cell adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9754764
12119451	TP53	tumor protein p53	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleuropulmonary blastoma	PMID:10732753|PMID:11370630|PMID:11867759|PMID:12826609|PMID:15993273|PMID:16258005|PMID:16793544|PMID:16861262|PMID:17606709|PMID:21343334|PMID:23264849|PMID:24675358|PMID:24909177|PMID:25741868|PMID:26425688|PMID:26655088|PMID:27993330|PMID:28492532|PMID:29666004|PMID:29979965|PMID:30224644|PMID:31081129|PMID:33300245|PMID:33758026|PMID:34599283|PMID:8633021|PMID:9364015|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:27759562|PMID:27993330|PMID:33568653|PMID:9815715
12119451	TP53	tumor protein p53	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:10432928|PMID:11523567|PMID:12484572|PMID:12826609|PMID:15977174|PMID:18307025|PMID:19101993|PMID:19556618|PMID:26619011|PMID:27993330|PMID:28492532|PMID:29979965|PMID:30051528|PMID:30224644|PMID:32619305|PMID:35101336|PMID:8023157|PMID:8118819|PMID:8834542
12119451	TP53	tumor protein p53	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas | ClinVar Annotator: match by term: PANCREATIC CARCINOMA	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11479205|PMID:11782540|PMID:11896595|PMID:12826609|PMID:15221755|PMID:15381368|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:1591732|PMID:15925506|PMID:16007150|PMID:1631137|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17311302|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18689542|PMID:18818522|PMID:19225112|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20516128|PMID:20586629|PMID:20693561|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:24033266|PMID:24078161|PMID:24448499|PMID:24501221|PMID:24556621|PMID:24677579|PMID:24705251|PMID:24797764|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25186627|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26000489|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27101868|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28966033|PMID:28975465|PMID:29059199|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30264118|PMID:30287823|PMID:30327374|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31119730|PMID:31395785|PMID:31775759|PMID:31802000|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32817165|PMID:32906206|PMID:33087929|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33818021|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34299313|PMID:34793666|PMID:34796414|PMID:34906512|PMID:34907344|PMID:35101336|PMID:35512711|PMID:35626031|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7796267|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8675009|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
12119451	TP53	tumor protein p53	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:11440	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:	PMID:26059825|REF_RGD_ID:11075076
12119451	TP53	tumor protein p53	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		DNA:mutations:exons:	PMID:26059825|REF_RGD_ID:11075076
12119451	TP53	tumor protein p53	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16818635
12119451	TP53	tumor protein p53	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12119451	TP53	tumor protein p53	gene	DOID:4971	myelofibrosis	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		associated with Myelodysplastic Syndromes;	PMID:26123119|REF_RGD_ID:11073713
12119451	TP53	tumor protein p53	gene	DOID:502	central nervous system mesenchymal non-meningothelial tumor		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central nervous system mesenchymal non-meningothelial tumor	PMID:16007150|PMID:16460008|PMID:27993330|PMID:29881993|PMID:30649606|PMID:32291395
12119451	TP53	tumor protein p53	gene	DOID:5041	esophageal cancer		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esophageal cancer | ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:10432928|PMID:10589545|PMID:10713666|PMID:10922393|PMID:11370630|PMID:11782540|PMID:12007217|PMID:12826609|PMID:14743206|PMID:15037740|PMID:15607980|PMID:15607981|PMID:15710230|PMID:15781620|PMID:15977174|PMID:16199547|PMID:16322298|PMID:16401470|PMID:16757210|PMID:16818505|PMID:16861262|PMID:17015838|PMID:17066464|PMID:17606709|PMID:18307025|PMID:18511570|PMID:18772396|PMID:18772890|PMID:19101993|PMID:19127115|PMID:19542078|PMID:19881536|PMID:20028212|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20689556|PMID:20805372|PMID:21118481|PMID:21163964|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21519010|PMID:21761402|PMID:21971842|PMID:22006311|PMID:22114072|PMID:22186996|PMID:22233476|PMID:22661320|PMID:22713868|PMID:22722829|PMID:22810696|PMID:22820256|PMID:22822097|PMID:22832583|PMID:22915647|PMID:22923379|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23630318|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23965232|PMID:24033266|PMID:24065105|PMID:24078161|PMID:24120142|PMID:24140581|PMID:24573247|PMID:24651015|PMID:24702488|PMID:24705251|PMID:25059482|PMID:25256166|PMID:25404506|PMID:25584008|PMID:25741868|PMID:25765855|PMID:25952993|PMID:26061751|PMID:26230955|PMID:26257827|PMID:26467025|PMID:26585234|PMID:26911350|PMID:26919320|PMID:27153395|PMID:27276561|PMID:27325016|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27619989|PMID:27680515|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28197804|PMID:28349240|PMID:28472496|PMID:28492532|PMID:28509937|PMID:28726821|PMID:28873162|PMID:28966033|PMID:29070607|PMID:29263802|PMID:29324801|PMID:29470806|PMID:29793804|PMID:29802247|PMID:29979965|PMID:30076369|PMID:30212483|PMID:30224644|PMID:30326163|PMID:30327374|PMID:30523111|PMID:30577483|PMID:30796655|PMID:30816478|PMID:31068365|PMID:31395785|PMID:31477716|PMID:32000721|PMID:32310940|PMID:33056981|PMID:33300245|PMID:33433639|PMID:33692446|PMID:33741928|PMID:33758026|PMID:33772213|PMID:33924934|PMID:34185076|PMID:34439241|PMID:34709361|PMID:34796414|PMID:35101336|PMID:36988593|PMID:37030635|PMID:37185778|PMID:7887414|PMID:8023157|PMID:8118819|PMID:8164043|PMID:8825920|PMID:9047394|PMID:9242456|PMID:9662334
12119451	TP53	tumor protein p53	gene	DOID:5041	esophageal cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:12826609|PMID:16199547|PMID:17066464|PMID:19542078|PMID:20522432|PMID:20805372|PMID:23713777|PMID:25741868|PMID:28492532|PMID:28509937|PMID:29070607|PMID:29263802|PMID:29324801|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30796655|PMID:30816478|PMID:33300245|PMID:33758026
12119451	TP53	tumor protein p53	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:12834321	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Small cell lung carcinoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17875924|PMID:18555592|PMID:19556618|PMID:21113594|PMID:22427690|PMID:25741868|PMID:26585234|PMID:26619011|PMID:27557517|PMID:28492532|PMID:29979965|PMID:30224644|PMID:32980694|PMID:33138793|PMID:35820297
12119451	TP53	tumor protein p53	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:70502	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188|PMID:22941189
12119451	TP53	tumor protein p53	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:8658822	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Small cell lung carcinoma	PMID:10229196|PMID:12695689|PMID:12826609|PMID:16861262|PMID:17606709|PMID:21343334|PMID:25741868|PMID:26556299|PMID:26619011|PMID:28492532|PMID:28724667|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:5419	schizophrenia		ISO	RGD:70502	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism	PMID:18583979|PMID:39490508
12119451	TP53	tumor protein p53	gene	DOID:5485	synovial sarcoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Synovial sarcoma	PMID:10526004|PMID:11007040|PMID:11920959|PMID:12826609|PMID:14965603|PMID:17724467|PMID:20505364|PMID:21343334|PMID:22713868|PMID:25741868|PMID:26415226|PMID:27993330|PMID:28492532|PMID:29979965|PMID:30224644|PMID:35101336|PMID:39451213
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14639659|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23733769|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25339994|PMID:25348012|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25886176|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29059199|PMID:29070607|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32295079|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32885271|PMID:32930885|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33758026|PMID:33818021|PMID:34026625|PMID:4122735
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:7565304|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9470817|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11403041|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12076704|PMID:12124823|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14639659|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17947339|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19717094|PMID:19756158|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21348641|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25326637|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:2932480|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32592449|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32930885|PMID:32959997|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34240179|PMID:34266904|PMID:34273903|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34907344|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9470817|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22264786|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26513723|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26655088|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27813088|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28949402|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30252118|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32592449|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32930885|PMID:32959997|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34240179|PMID:34266904|PMID:34273903|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34907344|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9470817|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21878961|PMID:21934104|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22203015|PMID:22233476|PMID:22264786|PMID:22265402|PMID:22319594|PMID:22373952|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24307375|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24630730|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24700732|PMID:24702488|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24908601|PMID:24936644|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26513723|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26655088|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27813088|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28230820|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28724667|PMID:28756477
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck | ClinVar Annotator: match by term: Squamous cell carcinoma, head and neck, somatic	PMID:28767289|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28949402|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29844874|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30252118|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32554555|PMID:32566746|PMID:32592449|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32930885|PMID:32959997|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33504652|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34049842|PMID:34240179|PMID:34266904|PMID:34273903|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34907344|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9470817|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10871862|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11423991|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12909720|PMID:12917626|PMID:14559903|PMID:15221755|PMID:15381368|PMID:15580553|PMID:15642401|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1581912|PMID:1591732|PMID:15925506|PMID:16007150|PMID:1631137|PMID:16401470|PMID:16461914|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16736287|PMID:16741917|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17289876|PMID:17311302|PMID:17318340|PMID:17361096|PMID:17541742|PMID:17606709|PMID:17724467|PMID:17875924|PMID:17947339|PMID:18208484|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19468865|PMID:19556618|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20308654|PMID:20407015|PMID:20471942|PMID:20505364|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21483000|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22203015|PMID:22265402|PMID:22427690|PMID:22534715|PMID:22661320|PMID:22722829|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23334668|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23894400|PMID:24033266|PMID:24078161|PMID:24140581|PMID:24326041|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24651015|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24908601|PMID:24936644|PMID:24952746|PMID:25148739|PMID:25186627|PMID:25219808|PMID:25234657|PMID:25293557|PMID:25336695|PMID:25433984|PMID:25490274|PMID:25490678|PMID:25584008|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26000489|PMID:26086041|PMID:26138366|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27146902|PMID:27165744|PMID:27189670|PMID:27276561|PMID:27325016|PMID:27328919|PMID:27391063|PMID:27463065|PMID:27501770|PMID:27557517|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28861920|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29752822|PMID:29753700|PMID:29763623|PMID:29844874|PMID:29933636|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30607672|PMID:30653764|PMID:30661751|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31278746|PMID:31321604|PMID:31395785|PMID:31574483|PMID:31605946|PMID:31637714|PMID:31775759|PMID:31802000|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32475984|PMID:32554555|PMID:32601913|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33089535|PMID:33128190|PMID:33138793
12119451	TP53	tumor protein p53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:33208383|PMID:33245408|PMID:33249490|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33504652|PMID:33534120|PMID:33633026|PMID:33692446|PMID:33741928|PMID:33772213|PMID:33818021|PMID:33924934|PMID:34045312|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34266904|PMID:34273903|PMID:34793666|PMID:34796414|PMID:34906512|PMID:34907344|PMID:35033608|PMID:35101336|PMID:35264596|PMID:35332262|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36457625|PMID:36534940|PMID:36963804|PMID:36988593|PMID:37030635|PMID:37563628|PMID:37623222|PMID:37653074|PMID:38153744|PMID:38201513|PMID:38867333|PMID:39060302|PMID:39536727|PMID:39774325|PMID:40119744|PMID:7651740|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7885831|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8308926|PMID:8401536|PMID:8633021|PMID:8675009|PMID:9067756|PMID:9157982|PMID:9164685|PMID:9242456|PMID:9285560|PMID:9301461|PMID:9470817|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Choroid plexus carcinoma	PMID:12826609|PMID:15642401|PMID:16861262|PMID:18989156|PMID:20308654|PMID:22534715|PMID:25336695|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29979965|PMID:30224644|PMID:31637714|PMID:32817165|PMID:33249490|PMID:35101336|PMID:35264596|PMID:36534940|PMID:38867333|PMID:7651740|PMID:9157982
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17576681|PMID:17606709|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19556618|PMID:1978757|PMID:19930417|PMID:19933256|PMID:20128691|PMID:20407015|PMID:20436704|PMID:20504876|PMID:20505364|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21626334|PMID:21666498|PMID:22170717|PMID:22186996|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23667851|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25056374|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9667734|PMID:9681828
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23406775|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17311302|PMID:17318340|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18393224|PMID:18511570|PMID:18575712|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:1975675|PMID:1978757|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21232794|PMID:21343334|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:2259385|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23555315|PMID:23624782|PMID:23667851|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24896186|PMID:24916180|PMID:24929325|PMID:25034526|PMID:25056374|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26527317|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27680515|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28861920|PMID:28902083|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:22170717|PMID:22186996|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23973262|PMID:24033266|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24594805|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8242752|PMID:8352280|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754|PMID:29625052
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18511570|PMID:18575712|PMID:18923929|PMID:19139070|PMID:19165225|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21761402|PMID:22170717|PMID:22186996|PMID:22265402|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23172776|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25637381|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29489754
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:29987015|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30613367|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:32885271|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29945567|PMID:29979965|PMID:30092803|PMID:30107858|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30588330|PMID:30613367|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31422574|PMID:31666926|PMID:31775759|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32187361|PMID:32295079|PMID:32566746|PMID:32817165|PMID:32885271|PMID:33128190|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33818021|PMID:3471991|PMID:35806449|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9598730|PMID:9607760|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10777217|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22455664|PMID:22507745|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23172776|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29126202|PMID:29170254|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32986223|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34240179|PMID:3471991|PMID:34885220|PMID:35367578|PMID:35806449|PMID:36003761|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7887414|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10432928|PMID:10435620|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10777217|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17541742|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20504876|PMID:20505364|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23172776|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24549055|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24651015|PMID:24665023|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26534844|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27276561|PMID:27374712|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31948886|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34240179|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35323354|PMID:35367578|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22899716|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25527155|PMID:25584008|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8164043|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:8825920|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11481490|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:16861262|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18348286|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7885831|PMID:7887414|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8242752|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15925506|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17940213|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:18940924|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22619358|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27601191|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:38645101|PMID:7478555|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7791795|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8242752|PMID:8276238|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9569050|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15925506|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17940213|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:18940924|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22619358|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24764719|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27601191|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:38645101|PMID:7478555|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7791795|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8242752|PMID:8276238|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11733960|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15851479|PMID:15925506|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17940213|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18923929|PMID:18940924|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21153778|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22619358|PMID:22653678|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23334668|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27601191|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477317|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33758026|PMID:33818021|PMID:34049842|PMID:34088725|PMID:34240179|PMID:34284872|PMID:34426522|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34793697|PMID:34863587|PMID:34885220|PMID:35043155|PMID:35323354|PMID:35367578|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:38645101|PMID:7478555|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7791795|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8242752|PMID:8276238|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11733960|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:1581912|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16644204|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17940213|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18923929|PMID:18940924|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20948308|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21060032|PMID:21153778|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22619358|PMID:22653678|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23334668|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24501221|PMID:24549055
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27101868|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27601191|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27866339|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30653764|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33051313|PMID:33089535|PMID:33128190|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33758026|PMID:33818021|PMID:34049842|PMID:34067731|PMID:34088725|PMID:34240179|PMID:34284872|PMID:34426522|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34793666|PMID:34793697|PMID:34863587|PMID:34885220|PMID:34907344|PMID:35043155|PMID:35218119|PMID:35323354|PMID:35367578|PMID:35512711|PMID:35626031|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36243179
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38645101|PMID:7478555|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7791795|PMID:7885831|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8675009|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10629033|PMID:10706125|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11375890|PMID:11403041|PMID:11420676|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11733960|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12019170|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15489903|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15659650|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:1581912|PMID:15825182|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15982667|PMID:16007150|PMID:16033918|PMID:16199547|PMID:16199549|PMID:16258005|PMID:1631137|PMID:16337994|PMID:16401470|PMID:16437140|PMID:16489069|PMID:16494995|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16736287|PMID:16750598|PMID:16818505|PMID:16821082|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16941491|PMID:16964264|PMID:17015838|PMID:17133269|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17417627|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17724467|PMID:17727479|PMID:17881637|PMID:17940213|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18575712|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18923929|PMID:18940924|PMID:19046423|PMID:19139070|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19450127|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19714488|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19877175|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20301488|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20504876|PMID:20505364|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20575032|PMID:20693561|PMID:20948308|PMID:20972454|PMID:20978130|PMID:21059199|PMID:21060032|PMID:21153778|PMID:21187651|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22275998|PMID:22311583|PMID:22356895|PMID:22455664|PMID:22507745|PMID:22551548|PMID:22571758|PMID:22619358|PMID:22653678|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22829111|PMID:22877736|PMID:22915647|PMID:22955915|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23334668|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23624782|PMID:23639312|PMID:23667202|PMID:23667851|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24171036|PMID:24218030
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:24240112|PMID:24256616|PMID:24278325|PMID:24326041|PMID:24382691|PMID:24384472|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24651012|PMID:24651015|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24853176|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:25034526|PMID:25056374|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25299233|PMID:25318351|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25348012|PMID:25490274|PMID:25503501|PMID:25525159|PMID:25527155|PMID:25584008|PMID:25589003|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25773284|PMID:25787918|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26014290|PMID:26086041|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27101868|PMID:27146902|PMID:27210295|PMID:27223487|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27443514|PMID:27463065|PMID:27484708|PMID:2750177|PMID:27501770|PMID:27545002|PMID:27601191|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27726232|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27923552|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28230820|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28681140|PMID:28724667|PMID:28756477|PMID:28767289|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28968711|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29059199|PMID:29076966|PMID:29126202|PMID:29170254|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29365323|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29770616|PMID:29844874|PMID:29922827|PMID:29945567|PMID:29956451|PMID:29958926|PMID:29979956|PMID:29979965|PMID:30042151|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30653764|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30982232|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31159747|PMID:31296311|PMID:31422574|PMID:31494577|PMID:31567591|PMID:31666926|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32095738|PMID:32156018|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32427313|PMID:32566746|PMID:32592449|PMID:32671623|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33089535|PMID:33128190|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33637564|PMID:33758026|PMID:33818021|PMID:33980423|PMID:34049842|PMID:34067731|PMID:34088725|PMID:34240179|PMID:34284872|PMID:34426522|PMID:34503094|PMID:34540492|PMID:3471991|PMID:34793666|PMID:34793697|PMID:34863587|PMID:34885220|PMID:34907344|PMID:35043155|PMID:35218119
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35323354|PMID:35367578|PMID:35512711|PMID:35626031|PMID:35802772|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36243179|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38645101|PMID:7478555|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7791795|PMID:7885831|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8352280|PMID:8423216|PMID:8425176|PMID:8527048|PMID:8675009|PMID:8700525|PMID:8718514|PMID:9067756|PMID:9150393|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9399838|PMID:9446663|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10497279|PMID:10777217|PMID:10780666|PMID:10864200|PMID:11051239|PMID:11429705|PMID:11733960|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12509279|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14612556|PMID:15077194|PMID:15221755|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15781620|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15982667|PMID:1631137|PMID:16818505|PMID:16861262|PMID:17311302|PMID:17557566|PMID:17606709|PMID:18199664|PMID:18348286|PMID:18453682|PMID:18555592|PMID:18689542|PMID:18818522|PMID:19171880|PMID:19336573|PMID:19405127|PMID:19450127|PMID:19913028|PMID:19930417|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20948308|PMID:20972454|PMID:21059199|PMID:21060032|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22198284|PMID:22356895|PMID:22653678|PMID:22661320|PMID:22915647|PMID:23175693|PMID:23246812|PMID:23484829|PMID:24033266|PMID:24278325|PMID:24451277|PMID:24556621|PMID:24682512|PMID:24705251|PMID:24728327|PMID:24797764|PMID:24803582|PMID:24929325|PMID:25186627|PMID:25584008|PMID:25741868|PMID:25881545|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26181206|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27101868|PMID:27276561|PMID:27443514|PMID:27463065|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28861920|PMID:28902083|PMID:28966033|PMID:29058119|PMID:29059199|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29522266|PMID:29667044|PMID:29979965|PMID:30067863|PMID:30224644|PMID:30264118|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30613367|PMID:30653764|PMID:30675318|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31060593|PMID:31081129|PMID:31119730|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32295079|PMID:32318955|PMID:32566746|PMID:32885271|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33818021|PMID:34067731|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34907344|PMID:35101336|PMID:35218119|PMID:35512711|PMID:35626031|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:36243179|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38645101|PMID:7599045|PMID:7981076|PMID:8102535|PMID:8308926|PMID:8336941|PMID:8675009|PMID:8700525|PMID:9207066|PMID:9290701|PMID:9546439|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10497279|PMID:10777217|PMID:10780666|PMID:10864200|PMID:11051239|PMID:11429705|PMID:11733960|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12509279|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14612556|PMID:15077194|PMID:15221755|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15781620|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15982667|PMID:1631137|PMID:16818505|PMID:16861262|PMID:17311302|PMID:17557566|PMID:17606709|PMID:18199664|PMID:18348286|PMID:18453682|PMID:18555592|PMID:18689542|PMID:18818522|PMID:19171880|PMID:19336573|PMID:19405127|PMID:19450127|PMID:19913028|PMID:19930417|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20948308|PMID:20972454|PMID:21059199|PMID:21060032|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21674059|PMID:21761402|PMID:22186996|PMID:22198284|PMID:22356895|PMID:22653678|PMID:22661320|PMID:22915647|PMID:23175693|PMID:23246812|PMID:23484829|PMID:24033266|PMID:24278325|PMID:24451277|PMID:24556621|PMID:24682512|PMID:24705251|PMID:24728327|PMID:24797764|PMID:24803582|PMID:24929325|PMID:25186627|PMID:25584008|PMID:25741868|PMID:25881545|PMID:25896519|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26181206|PMID:26230955|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26690524|PMID:26787237|PMID:26976419|PMID:27101868|PMID:27276561|PMID:27443514|PMID:27463065|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28486781|PMID:28492532|PMID:28724667|PMID:28767289|PMID:28861920|PMID:28902083|PMID:28966033|PMID:29058119|PMID:29059199|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29522266|PMID:29667044|PMID:29979965|PMID:30067863|PMID:30224644|PMID:30264118|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30613367|PMID:30653764|PMID:30675318|PMID:30720243|PMID:30840781|PMID:31060593|PMID:31081129|PMID:31119730|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32318955|PMID:32885271|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33818021|PMID:34067731|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34907344|PMID:35101336|PMID:35218119|PMID:35512711|PMID:35626031|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:36243179|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38645101|PMID:7599045|PMID:7981076|PMID:8102535|PMID:8308926|PMID:8336941|PMID:8675009|PMID:8700525|PMID:9207066|PMID:9290701|PMID:9546439|PMID:9572492
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10411893|PMID:10432928|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10871862|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11733960|PMID:11782540|PMID:11896595|PMID:12019170|PMID:12509279|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12917626|PMID:14559903|PMID:14612556|PMID:15077194|PMID:15221755|PMID:15381368|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:1631137|PMID:16489069|PMID:16494995|PMID:16682957|PMID:16736287|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17289876|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17557566|PMID:17606709|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18348286|PMID:18511570|PMID:18689542|PMID:18818522|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19468865|PMID:19556618|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20522432|PMID:20948308|PMID:21059199|PMID:21060032|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22356895|PMID:22653678|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23531339|PMID:23538418|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24278325|PMID:24326041|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24665023|PMID:24682512|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24908601|PMID:24929325|PMID:24952746|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25490274|PMID:25584008|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26000489|PMID:26086041|PMID:26138366|PMID:26181206|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26690524|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27165744|PMID:27276561|PMID:27325016|PMID:27443514|PMID:27463065|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28861920|PMID:28902083|PMID:28966033|PMID:29059199|PMID:29076966|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29844874|PMID:29933636|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30327374|PMID:30352134|PMID:30588330|PMID:30613367|PMID:30653764|PMID:30720243|PMID:30840781|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31395785|PMID:31567591|PMID:31775759|PMID:31802000|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32601913|PMID:32817165|PMID:32832836|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33089535|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33534120|PMID:33633026|PMID:33818021|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34906512|PMID:34907344|PMID:35101336|PMID:35218119|PMID:35512711|PMID:35626031|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36243179|PMID:36457625|PMID:36988593|PMID:37563628|PMID:38028594|PMID:38153744|PMID:38201513|PMID:38645101|PMID:39536727|PMID:39774325|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7885831
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8308926|PMID:8336941|PMID:8675009|PMID:8700525|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9470817|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10411893|PMID:10432928|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10864200|PMID:10871862|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11733960|PMID:11782540|PMID:11896595|PMID:11920959|PMID:12509279|PMID:12700230|PMID:12826609|PMID:12901974|PMID:12909720|PMID:12917626|PMID:14559903|PMID:14612556|PMID:15077194|PMID:15221755|PMID:15381368|PMID:15489903|PMID:15580553|PMID:1565143|PMID:15722483|PMID:15781620|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15982667|PMID:1631137|PMID:16489069|PMID:16494995|PMID:16682957|PMID:16736287|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17289876|PMID:17311302|PMID:17318340|PMID:17541742|PMID:17557566|PMID:17576681|PMID:17606709|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18348286|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18689542|PMID:18818522|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19468865|PMID:19556618|PMID:19913028|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20522432|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:21059199|PMID:21060032|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22198284|PMID:22356895|PMID:22653678|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23175693|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23531339|PMID:23538418|PMID:24033266|PMID:24078161|PMID:24278325|PMID:24326041|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24665023|PMID:24682512|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24908601|PMID:24929325|PMID:24952746|PMID:25186627|PMID:25234657|PMID:25293557|PMID:25490274|PMID:25584008|PMID:25612911|PMID:25634010|PMID:25637381|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25881545|PMID:25896519|PMID:25925845|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26086041|PMID:26138366|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26484312|PMID:26585234|PMID:26690524|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26976419|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27165744|PMID:27276561|PMID:27325016|PMID:27443514|PMID:27463065|PMID:27501770|PMID:27545002|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28861920|PMID:28902083|PMID:28966033|PMID:29058119|PMID:29059199|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29625052|PMID:29667044|PMID:29844874|PMID:29933636|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30613367|PMID:30653764|PMID:30675318|PMID:30720243|PMID:30840781|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31395785|PMID:31605946|PMID:31802000|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32318955|PMID:32601913|PMID:32817165|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33089535|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33534120|PMID:33633026|PMID:33818021|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34452612|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34863587|PMID:34906512|PMID:34907344|PMID:35101336|PMID:35218119|PMID:35512711|PMID:35626031|PMID:35806449|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385
12119451	TP53	tumor protein p53	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36243179|PMID:36457625|PMID:36988593|PMID:37563628|PMID:37623222|PMID:38028594|PMID:38153744|PMID:38201513|PMID:38645101|PMID:39536727|PMID:39774325|PMID:40119744|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7885831|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8308926|PMID:8336941|PMID:8675009|PMID:8700525|PMID:9067756|PMID:9207066|PMID:9242456|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9470817|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:5744	ovary serous adenocarcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA, protein:loss of heterozygosity, increased expression:ovary	PMID:1310251|REF_RGD_ID:2290540
12119451	TP53	tumor protein p53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:10980596|PMID:11793474|PMID:12610779|PMID:12726864|PMID:12826609|PMID:16199547|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17066464|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18989156|PMID:19542078|PMID:19556618|PMID:20522432|PMID:20805372|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26014290|PMID:26585234|PMID:26911350|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28509937|PMID:28545823|PMID:28724667|PMID:28912153|PMID:28966033|PMID:29070607|PMID:29263802|PMID:29324801|PMID:29753700|PMID:29763623|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30326163|PMID:30630526|PMID:30796655|PMID:32000721|PMID:32784519|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33300245|PMID:33692446|PMID:33758026|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:7651740|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa:	PMID:23776093|REF_RGD_ID:8547855
12119451	TP53	tumor protein p53	gene	DOID:5844	myocardial infarction		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24358288
12119451	TP53	tumor protein p53	gene	DOID:5940	malignant peripheral nerve sheath tumor		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant peripheral nerve sheath tumor	PMID:11285227|PMID:11406645|PMID:11782540|PMID:12826609|PMID:15781632|PMID:16818505|PMID:17606709|PMID:20010306|PMID:20407015|PMID:21343334|PMID:21519010|PMID:22186996|PMID:22915647|PMID:23246812|PMID:24113472|PMID:25149524|PMID:25240281|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26718964|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28356770|PMID:28492532|PMID:29118384|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30840781|PMID:8308926
12119451	TP53	tumor protein p53	gene	DOID:6000	congestive heart failure		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21284947
12119451	TP53	tumor protein p53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:11793474|PMID:12726864|PMID:12826609|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17875924|PMID:18511570|PMID:18555592|PMID:19556618|PMID:21113594|PMID:21971842|PMID:22427690|PMID:22832583|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:26585234|PMID:27557517|PMID:27993330|PMID:28492532|PMID:28545823|PMID:28912153|PMID:28966033|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33692446|PMID:33772213|PMID:35101336|PMID:35332262|PMID:35820297|PMID:37030635|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:6179	ovarian small cell carcinoma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Small cell carcinoma of the ovary, hypercalcemic type	
12119451	TP53	tumor protein p53	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:24334871|REF_RGD_ID:10043360
12119451	TP53	tumor protein p53	gene	DOID:657	adenoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21946351
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23315175|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24395441|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31121848|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31748977|PMID:31775759|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:33372952|PMID:33635883|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14673037|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15060172|PMID:15077194|PMID:15161705|PMID:15308588|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:16000567|PMID:16209708|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18477611|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20538734|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21483000|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:26628864|PMID:26641009|PMID:26659639|PMID:26681312|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27873457|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28271309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32295079|PMID:32401780|PMID:32475984|PMID:32885271|PMID:32899294|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33635883|PMID:34026625|PMID:4122735|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9405613|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12782597|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15221755|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:17999388|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20234365|PMID:20308654|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25516983|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26718964|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28949402|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30093976|PMID:30107044|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31494577|PMID:31559875|PMID:31742824|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34088725|PMID:34240179|PMID:34266904|PMID:34299313|PMID:34308366|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35127508|PMID:35802772|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36219266|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9472631|PMID:9482117|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10557074|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12726864|PMID:12779080|PMID:12782597|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15161705|PMID:15221755|PMID:15308588|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15564800|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:16199549|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16964264|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:17999388|PMID:18208484|PMID:18307025|PMID:18391940|PMID:18453682|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19881536|PMID:19913028|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22710932|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:23334668|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24122735|PMID:24307375|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25131192|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28664506|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28949402|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30093976|PMID:30107044|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30546832|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31494577|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32959997|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33635883|PMID:33674644|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34088725|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34503094|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35127508|PMID:35802772|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36008825|PMID:36219266|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:7885831|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9472631|PMID:9482117|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943|PMID:9839505|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: Hepatoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:10411893|PMID:10761705|PMID:10797439|PMID:10980596|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12610779|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16199547|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:3889	D	RGD:9068941	20220714	RGD			PMID:33841550|REF_RGD_ID:152998960
12119451	TP53	tumor protein p53	gene	DOID:6846	familial melanoma		ISO	RGD:70502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 5	PMID:12826609|PMID:25741868|PMID:28492532
12119451	TP53	tumor protein p53	gene	DOID:6846	familial melanoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial melanoma	PMID:12826609|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:687	hepatoblastoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:12826609|PMID:1565143|PMID:17606709|PMID:19225112|PMID:19556618|PMID:20128691|PMID:20586629|PMID:21163964|PMID:21343334|PMID:21383700|PMID:22661320|PMID:22820256|PMID:22832583|PMID:22887876|PMID:23031740|PMID:23259501|PMID:24705251|PMID:25584008|PMID:25741868|PMID:26467025|PMID:26585234|PMID:26911350|PMID:27189670|PMID:27993330|PMID:28279309|PMID:28492532|PMID:28726821|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29979965|PMID:30224644|PMID:31775759|PMID:32475984|PMID:32817165|PMID:33087929|PMID:33433639|PMID:34796414|PMID:35101336|PMID:35705558|PMID:35705560|PMID:8401536|PMID:8633021
12119451	TP53	tumor protein p53	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:70502	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
12119451	TP53	tumor protein p53	gene	DOID:705	Leber hereditary optic neuropathy	onset	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R72P(human)	PMID:15838728|REF_RGD_ID:5688732
12119451	TP53	tumor protein p53	gene	DOID:7575	pancreatic intraductal papillary-mucinous neoplasm		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :multiple	PMID:28930868|REF_RGD_ID:14995501
12119451	TP53	tumor protein p53	gene	DOID:7614	meninges sarcoma		ISO	RGD:3889	D	RGD:9068941	20210430	RGD			PMID:27528400|REF_RGD_ID:12738450
12119451	TP53	tumor protein p53	gene	DOID:769	neuroblastoma		ISO	RGD:11440	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814359
12119451	TP53	tumor protein p53	gene	DOID:824	periodontitis		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:11793474|PMID:12759621|PMID:12826609|PMID:15192123|PMID:19671856|PMID:21343334|PMID:25365311|PMID:25741868|PMID:27328919|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30287823|PMID:32980694|PMID:33309985|PMID:35050731|PMID:35101336
12119451	TP53	tumor protein p53	gene	DOID:83	cataract		ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:21504908|REF_RGD_ID:8547757
12119451	TP53	tumor protein p53	gene	DOID:8541	Sezary's disease		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667|PMID:26551670
12119451	TP53	tumor protein p53	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic myeloid leukemia	PMID:12826609|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:863	nervous system disease		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9369336
12119451	TP53	tumor protein p53	gene	DOID:8725	vascular dementia		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:18083315|REF_RGD_ID:2290557
12119451	TP53	tumor protein p53	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Acute megakaryoblastic leukemia	PMID:11370630|PMID:20522432|PMID:25741868|PMID:28492532|PMID:33300245
12119451	TP53	tumor protein p53	gene	DOID:8893	psoriasis		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10384915
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10064694|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25186627|PMID:25293557|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27149858|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27458004|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27730344|PMID:27895058|PMID:27911860|PMID:27959731|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31119730|PMID:31206626|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33332384|PMID:33372952|PMID:33758026|PMID:34026625|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9049183|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9472631|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10064694|PMID:10089074|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:27493922|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10732753|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12509279|PMID:12672316|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15825182|PMID:15850016|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16401470|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19913028|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20972454|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22672556|PMID:22713868|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24810334|PMID:24857548|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933
12119451	TP53	tumor protein p53	gene	DOID:8923	skin melanoma		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cutaneous melanoma | ClinVar Annotator: match by term: Malignant melanoma of skin	PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28279309|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32187361|PMID:32318955|PMID:32371905|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:34805717|PMID:35033608|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36988593|PMID:3784963|PMID:6736287|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9632751|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24185509|PMID:24997986
12119451	TP53	tumor protein p53	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:23595775|REF_RGD_ID:10412063
12119451	TP53	tumor protein p53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:11440	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Squamous Cell;	PMID:18059331|REF_RGD_ID:8547790
12119451	TP53	tumor protein p53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA:missense mutation, duplication:cds, intron:p.R72P	PMID:18230179|REF_RGD_ID:2290534
12119451	TP53	tumor protein p53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		associated with Penile Neoplasms	PMID:18268397|REF_RGD_ID:2290533
12119451	TP53	tumor protein p53	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12706858
12119451	TP53	tumor protein p53	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:16778087|REF_RGD_ID:8547873
12119451	TP53	tumor protein p53	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:esophageal mucosa:	PMID:26439224|REF_RGD_ID:11075085
12119451	TP53	tumor protein p53	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17634542|PMID:26192916
12119451	TP53	tumor protein p53	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:70502	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628|PMID:24816253
12119451	TP53	tumor protein p53	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:3889	D	RGD:9068941	20211001	RGD			PMID:28834365|REF_RGD_ID:14995504
12119451	TP53	tumor protein p53	gene	DOID:9000362	Adrenal Gland Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747643
12119451	TP53	tumor protein p53	gene	DOID:9000555	Vulvar Lichen Sclerosus		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17300232
12119451	TP53	tumor protein p53	gene	DOID:9000647	Acute Erythroleukemia		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30926971
12119451	TP53	tumor protein p53	gene	DOID:9000906	Oropharyngeal Neoplasms	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:11072161|REF_RGD_ID:8547874
12119451	TP53	tumor protein p53	gene	DOID:9000918	Disease Progression		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
12119451	TP53	tumor protein p53	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22009531|PMID:23873029|PMID:27137931
12119451	TP53	tumor protein p53	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		associated with Sarcoma;	PMID:21854749|REF_RGD_ID:11075090
12119451	TP53	tumor protein p53	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17949449
12119451	TP53	tumor protein p53	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
12119451	TP53	tumor protein p53	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10626228
12119451	TP53	tumor protein p53	gene	DOID:9001626	Chromosome 17 Deletion		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14961032
12119451	TP53	tumor protein p53	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17901943|REF_RGD_ID:2290561
12119451	TP53	tumor protein p53	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12756225|PMID:27137931
12119451	TP53	tumor protein p53	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: B-cell chronic lymphocytic leukemia	
12119451	TP53	tumor protein p53	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:deletion: :	PMID:10867151|REF_RGD_ID:11075074
12119451	TP53	tumor protein p53	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16434975|PMID:17202838|PMID:20875869|PMID:21946351|PMID:25735316|PMID:26005866|PMID:29295717|PMID:29610475
12119451	TP53	tumor protein p53	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:11440	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:30009776|PMID:34713381
12119451	TP53	tumor protein p53	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:70502	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:30009776|PMID:34713381
12119451	TP53	tumor protein p53	gene	DOID:9002641	Bone Marrow Neoplasms	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:24761810|REF_RGD_ID:11073734
12119451	TP53	tumor protein p53	gene	DOID:9002644	Premature Aging		ISO	RGD:11440	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:19500727|REF_RGD_ID:10045876
12119451	TP53	tumor protein p53	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10389749|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10497279|PMID:10526004|PMID:10554037|PMID:10567903|PMID:10732753|PMID:10753186|PMID:10797439|PMID:10914716|PMID:10922393|PMID:11007040|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11180592|PMID:11229518|PMID:11313981|PMID:11370630|PMID:11406645|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11881786|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12700230|PMID:12726864|PMID:12759240|PMID:12826609|PMID:12885464|PMID:12917626|PMID:14584079|PMID:14612556|PMID:14965603|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15342977|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15710230|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15977174|PMID:15993273|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16757210|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17361096|PMID:17554785|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17724467|PMID:17875924|PMID:18307025|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19101993|PMID:19147582|PMID:19225112|PMID:19367287|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19556618|PMID:19681600|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:20010306|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20198344|PMID:20234365|PMID:20407015|PMID:20505364|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:21056402|PMID:21059199|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:21971842|PMID:22052707|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22507745|PMID:22540896|PMID:22591662|PMID:2259385|PMID:22653678|PMID:22661320|PMID:22713868|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22878818|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23196062|PMID:23246812|PMID:23259501|PMID:23264849|PMID:23484829|PMID:23538418|PMID:23894400|PMID:23939625|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24140581|PMID:24251760|PMID:24278325|PMID:24307375|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24501221|PMID:24603336|PMID:24675358|PMID:24677579|PMID:24705251|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24909177|PMID:24929325|PMID:24952746|PMID:25119136|PMID:25148739|PMID:25219808|PMID:25294809|PMID:2531845|PMID:25428789|PMID:25433984|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25768946|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26138366|PMID:26230955|PMID:26415226|PMID:26425688|PMID:26467025|PMID:26482474|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27813088|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29118384|PMID:29300620|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29625052
12119451	TP53	tumor protein p53	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:29666004|PMID:29706651|PMID:29752822|PMID:29753700|PMID:29763623|PMID:29933636|PMID:29958926|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30833958|PMID:30840781|PMID:30980208|PMID:31050713|PMID:31081129|PMID:31119730|PMID:31168460|PMID:31278746|PMID:31395785|PMID:31775759|PMID:31802000|PMID:32000721|PMID:32029870|PMID:32126783|PMID:32179180|PMID:32191290|PMID:32310940|PMID:32393201|PMID:32475984|PMID:32601264|PMID:32601913|PMID:32658383|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33138793|PMID:33251333|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33504652|PMID:33637876|PMID:33692446|PMID:33753552|PMID:33758026|PMID:33772213|PMID:33924934|PMID:34045312|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34299313|PMID:34519829|PMID:34529667|PMID:34599283|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35195909|PMID:35332262|PMID:35419288|PMID:35451682|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35974385|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39451213|PMID:7599045|PMID:7651740|PMID:7718482|PMID:7732013|PMID:7783166|PMID:7791795|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8208536|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8639798|PMID:8688334|PMID:9164685|PMID:9242456|PMID:9331090|PMID:9364015|PMID:9524109|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930|PMID:9792154|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:9002884	Emphysema		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22276220
12119451	TP53	tumor protein p53	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:70502	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17075118|PMID:17192441|PMID:26192916
12119451	TP53	tumor protein p53	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA:SNP:cds: p.R72P(rs1042522)(human)	PMID:21706156|REF_RGD_ID:11073725
12119451	TP53	tumor protein p53	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:12120703|REF_RGD_ID:8547838
12119451	TP53	tumor protein p53	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:epithelium	PMID:16393253|REF_RGD_ID:8547841
12119451	TP53	tumor protein p53	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12119451	TP53	tumor protein p53	gene	DOID:9003196	Penile Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9626339
12119451	TP53	tumor protein p53	gene	DOID:9003535	Bone Marrow Failure Syndrome 5		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:9003535	Bone Marrow Failure Syndrome 5		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 5 | ClinVar Annotator: match by term: Bone marrow failure syndrome 5	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30146126|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35084091|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9003566	Mesothelioma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12119451	TP53	tumor protein p53	gene	DOID:9003694	Cecal Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14688030
12119451	TP53	tumor protein p53	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, mitochondrion	PMID:17661174|REF_RGD_ID:2290568
12119451	TP53	tumor protein p53	gene	DOID:9004059	Eye Neoplasms		ISO	RGD:11440	D	RGD:9068941	20230429	RGD			PMID:21504908|REF_RGD_ID:8547757
12119451	TP53	tumor protein p53	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28452373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29247016|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29625052|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31159747|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36290365|PMID:36457625|PMID:36988593|PMID:37030635|PMID:37653074|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20176786
12119451	TP53	tumor protein p53	gene	DOID:9004240	Phyllodes Tumor	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:16889904|REF_RGD_ID:2290545
12119451	TP53	tumor protein p53	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29358327
12119451	TP53	tumor protein p53	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29358327
12119451	TP53	tumor protein p53	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22009531|PMID:27923803
12119451	TP53	tumor protein p53	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12635827
12119451	TP53	tumor protein p53	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism,mutations:cds:p.R72P(human)	PMID:21123835|REF_RGD_ID:8547834
12119451	TP53	tumor protein p53	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		associated with Small Cell Lung Carcinoma;DNA:SNP:: rs1042522(human)	PMID:24732641|REF_RGD_ID:11073715
12119451	TP53	tumor protein p53	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16940797
12119451	TP53	tumor protein p53	gene	DOID:9004643	Urologic Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22071594
12119451	TP53	tumor protein p53	gene	DOID:9004997	Pediatric Adrenocortical Carcinoma		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ADRENOCORTICAL CARCINOMA, PEDIATRIC	PMID:11051239|PMID:12826609|PMID:18762572|PMID:22507745|PMID:23894400|PMID:25584008|PMID:28492532|PMID:35101336
12119451	TP53	tumor protein p53	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:10411893|PMID:10435620|PMID:10606817|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:11139324|PMID:11180592|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12124823|PMID:12170762|PMID:12700230|PMID:12759621|PMID:12826609|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1394133|PMID:15192123|PMID:15221755|PMID:1537617|PMID:15381368|PMID:15580553|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15982667|PMID:16007150|PMID:16199547|PMID:16204849|PMID:16229746|PMID:16288208|PMID:1631137|PMID:16489069|PMID:16494995|PMID:16682957|PMID:16687402|PMID:16736287|PMID:16778209|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:17066464|PMID:17289876|PMID:17311302|PMID:17541742|PMID:17576681|PMID:17606709|PMID:18208484|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19171880|PMID:19225112|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19468865|PMID:19542078|PMID:19556618|PMID:19671856|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20505364|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:21059199|PMID:21060032|PMID:21163964|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21674059|PMID:21761402|PMID:21971842|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:2259385|PMID:22653678|PMID:22661320|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22862161|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24140581|PMID:24332040|PMID:24384472|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24556621|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24747642|PMID:24797764|PMID:24810334|PMID:24814347|PMID:24936644|PMID:24952746|PMID:25119136|PMID:25186627|PMID:25293557|PMID:25365311|PMID:25428789|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25743702|PMID:25768946|PMID:25896519|PMID:25925845|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26000489|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26572807|PMID:26585234|PMID:26619011|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27050224|PMID:27101868|PMID:27121876|PMID:27153395|PMID:27165744|PMID:27189670|PMID:27210295|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27501770|PMID:27523101|PMID:27545002|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28098136|PMID:28135048|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28509937|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28780976|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29126202|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30240537|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30450585|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709875|PMID:30720243|PMID:30796655|PMID:30816478|PMID:30840781|PMID:30980208|PMID:31060593|PMID:31089155
12119451	TP53	tumor protein p53	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:31119730|PMID:31133068|PMID:31296311|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32318955|PMID:32322420|PMID:32475984|PMID:32504211|PMID:32554555|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33309985|PMID:33433639|PMID:33471991|PMID:33534120|PMID:33692446|PMID:33758026|PMID:33772213|PMID:33818021|PMID:33850299|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34805717|PMID:34906512|PMID:34907344|PMID:35033608|PMID:35050731|PMID:35101336|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36964217|PMID:36988593|PMID:37030635|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38702830|PMID:39520074|PMID:39774325|PMID:40543052|PMID:7651740|PMID:7707106|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7885831|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8164043|PMID:8308926|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8675009|PMID:9049183|PMID:9049184|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9005062	Prostate Cancer, Hereditary, 1		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prostate cancer, hereditary, 1	PMID:12826609|PMID:20522432|PMID:25741868|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:9005161	Thymus Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10850423
12119451	TP53	tumor protein p53	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16247444|PMID:26390243
12119451	TP53	tumor protein p53	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		DNA:transitional mutations:exons:	PMID:10564948|REF_RGD_ID:11075092
12119451	TP53	tumor protein p53	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:70502	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11798837|PMID:16410370|PMID:17325666|PMID:20727180|PMID:26192916|PMID:8049841
12119451	TP53	tumor protein p53	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Nasopharyngeal Neoplasms	PMID:10589545|PMID:10871862|PMID:10914716|PMID:11370630|PMID:11782540|PMID:12007217|PMID:12124823|PMID:12826609|PMID:15607980|PMID:15607981|PMID:15825182|PMID:16288208|PMID:1631151|PMID:16401470|PMID:16494995|PMID:16736287|PMID:16818505|PMID:16861262|PMID:17541742|PMID:17606709|PMID:17724467|PMID:18208484|PMID:18555592|PMID:19468865|PMID:19834951|PMID:20128691|PMID:20407015|PMID:20505364|PMID:20516128|PMID:20522432|PMID:21343334|PMID:21514416|PMID:21519010|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22186996|PMID:22915647|PMID:22999923|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23265383|PMID:23334668|PMID:23792586|PMID:24033266|PMID:24384472|PMID:24573247|PMID:24728327|PMID:25503501|PMID:25741868|PMID:25927356|PMID:25952993|PMID:26024390|PMID:26230955|PMID:26270727|PMID:26467025|PMID:26585234|PMID:26619011|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28492532|PMID:28724667|PMID:28861920|PMID:29076966|PMID:29489754|PMID:29979965|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31119730|PMID:31296311|PMID:31775759|PMID:32019277|PMID:33245408|PMID:33300245|PMID:33332384|PMID:33633026|PMID:34266904|PMID:35820297|PMID:6736287|PMID:7707106|PMID:7885831|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8164043|PMID:8344492|PMID:8464896|PMID:8633021|PMID:8825920|PMID:8869100|PMID:9546439|PMID:9632751
12119451	TP53	tumor protein p53	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24809783
12119451	TP53	tumor protein p53	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:17470299|REF_RGD_ID:2290577
12119451	TP53	tumor protein p53	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:18092324|REF_RGD_ID:2290539
12119451	TP53	tumor protein p53	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:27993330|PMID:28912153|PMID:34848827|PMID:35419288|PMID:9792154
12119451	TP53	tumor protein p53	gene	DOID:9005582	Adrenal Cortex Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutation::p.R337H (human)	PMID:28387921|REF_RGD_ID:14995484
12119451	TP53	tumor protein p53	gene	DOID:9005642	Odontogenic Myxoma		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promotor:	PMID:22011900|REF_RGD_ID:8547808
12119451	TP53	tumor protein p53	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21078376
12119451	TP53	tumor protein p53	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:24828139|REF_RGD_ID:8662307
12119451	TP53	tumor protein p53	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792339
12119451	TP53	tumor protein p53	gene	DOID:9005779	Polyploidy		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25125259
12119451	TP53	tumor protein p53	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:30514679|REF_RGD_ID:14995938
12119451	TP53	tumor protein p53	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:16033093|REF_RGD_ID:2290537
12119451	TP53	tumor protein p53	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12119451	TP53	tumor protein p53	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:12167434|REF_RGD_ID:8547871
12119451	TP53	tumor protein p53	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:9485768|REF_RGD_ID:8547872
12119451	TP53	tumor protein p53	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:21903770|REF_RGD_ID:8547850
12119451	TP53	tumor protein p53	gene	DOID:9005883	Pleural Effusion		ISO	RGD:11440	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:37441092
12119451	TP53	tumor protein p53	gene	DOID:9006205	Animal Disease Models		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23873029
12119451	TP53	tumor protein p53	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9369336
12119451	TP53	tumor protein p53	gene	DOID:9006864	Trigeminal Nerve Injuries		ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:22977862|REF_RGD_ID:8547771
12119451	TP53	tumor protein p53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12670525|PMID:20443084|PMID:21519010|PMID:22186996|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:27276561|PMID:27463065|PMID:27680515|PMID:27895058|PMID:28492532|PMID:30287823
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10507764|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11715068|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12509970|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:1562462|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16061860|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17133269|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18978813|PMID:19012332|PMID:19020536|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19160491|PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:19165225|PMID:19171880|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19581934|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22484423|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22866089|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22983585|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23315175|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24224046|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24395441|PMID:24448499|PMID:24451277|PMID:24487276|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24853176
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25637381|PMID:25669829|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25923920|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26086041|PMID:26094658|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718692|PMID:26718964|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26876197|PMID:26878390|PMID:26900293|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27194209|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27267833|PMID:27276561|PMID:27297285|PMID:27328919|PMID:27372520|PMID:27374712|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27626311|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28199989|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:28271309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477317|PMID:28486781|PMID:28492532|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29174094|PMID:29247016|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29456621|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29769598|PMID:29770616|PMID:29785153|PMID:29844874|PMID:29875428|PMID:29945567|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30107858|PMID:30128536|PMID:30181807|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30287823|PMID:30299350|PMID:30306255
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31422574|PMID:31462179|PMID:31567591|PMID:31666926|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32283892|PMID:32295079|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32566746|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32885271|PMID:32916163|PMID:32930885|PMID:33051313|PMID:33128190|PMID:33178583|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33818021|PMID:34198491|PMID:34240179|PMID:34390506|PMID:34452612|PMID:3471991|PMID:34739844|PMID:4122735|PMID:7565304|PMID:7599045|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8352280|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:920706|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9865903|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11715068|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27149858|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27458004|PMID:27463065|PMID:27484708|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27730344|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34906512|PMID:34961499|PMID:35050731|PMID:35886069|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33758026|PMID:33818021|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35050731|PMID:35886069|PMID:35938033|PMID:36290365|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23665223
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25460562|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26200271|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26743472|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30607672|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31462179|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31843900|PMID:31881331|PMID:31882575|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32164171|PMID:32183364|PMID:32187361|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32658311|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32916163|PMID:32930885|PMID:32994724|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33635883|PMID:33646313|PMID:33758026|PMID:33818021|PMID:33932062|PMID:34026625|PMID:34095982|PMID:34099776|PMID:34198491|PMID:34240179|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34654685|PMID:3471991|PMID:34739844|PMID:34805717|PMID:34863587|PMID:34881245|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35050731|PMID:35512711|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36290365|PMID:36329109|PMID:36988593|PMID:37067911|PMID:37562436|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29056573|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32164171|PMID:32183364|PMID:32187361|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32986223|PMID:32994724|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33758026|PMID:33818021
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33932062|PMID:34026625|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34390506|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34654685|PMID:34676052|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34881245|PMID:34885220|PMID:34906512|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17947339|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27785980|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7599045|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8639798|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12067251|PMID:12070601|PMID:12124823|PMID:12149195|PMID:12170762|PMID:12209975|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12782597|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1359493|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17947339|PMID:17974978|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21317560|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21624955|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22264786|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25516983|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26513723|PMID:26514544|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27754743|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28949402|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30252118|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:38050059|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17947339|PMID:17974978|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18391940|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21317560|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21624955|PMID:21626334|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22264786|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26513723|PMID:26514544|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:27496084|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27754743|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28949402|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30252118|PMID:30262806|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:35980532|PMID:36003761|PMID:36008825|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:38050059|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33854152|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34169762|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35512711|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35886069|PMID:35938033|PMID:35974385|PMID:35980532|PMID:36003761|PMID:36008825|PMID:36168441|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:3784963|PMID:38050059|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11521785|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11904319|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12782597|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16933305|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17606709|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17940213|PMID:17947339|PMID:17974978|PMID:17982662|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18940924|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21624955|PMID:21626334|PMID:21630152|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22619358|PMID:22652532|PMID:22653678|PMID:22666503|PMID:22672556|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25381062|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25757876|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26514544|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27050224|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27601191|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27754743|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28949402|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29667044|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29893455|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30147334|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30264118|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30851333|PMID:30883245|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31494577|PMID:31533767|PMID:31559875|PMID:31567591|PMID:31666926|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32457520|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33606809|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33854152|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34067731|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34169762|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34670578|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34917121|PMID:34961499|PMID:34994652|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35127508|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35425963|PMID:35512711|PMID:35626031|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35886069|PMID:35938033|PMID:35974385|PMID:35980532|PMID:36003761|PMID:36008825|PMID:36168441|PMID:36219266|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37562436|PMID:37563628|PMID:37653074|PMID:3784963|PMID:38050059|PMID:38153744|PMID:38201513|PMID:38355628|PMID:38645101|PMID:3894400|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11521785|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11733960|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11904319|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12782597|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15523690|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16933305|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17554785|PMID:17557566|PMID:17567834|PMID:17572079
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17624602|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17940213|PMID:17947339|PMID:17974978|PMID:17982662|PMID:17999388|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18937320|PMID:18940924|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21624955|PMID:21626334|PMID:21630152|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22619358|PMID:22652532|PMID:22653678|PMID:22666503|PMID:22672556|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615|PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24836762|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25014290|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25374282|PMID:25381062|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25743702|PMID:25757876|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26514544|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26878390|PMID:26911350|PMID:26928227|PMID:26976419|PMID:27022024|PMID:27034505
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27050224|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27601191|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27754743|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27854218|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28007021|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28949402|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29667044|PMID:29737433|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29775997|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29893455|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30130155|PMID:30146126|PMID:30147334|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30212499|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30262806|PMID:30264118|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30833958|PMID:30840781|PMID:30851333|PMID:30875412|PMID:30883245|PMID:30886117|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31092812|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31484976|PMID:31494577|PMID:31533767|PMID:31567591|PMID:31666926|PMID:31719099|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32457520|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32704382|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33057201|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33606809|PMID:33614491|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33692861|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33854152|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34067731|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34169762|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34426522|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34670578|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34917121|PMID:34961499|PMID:34994652|PMID:35017683|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35084091|PMID:35127508|PMID:35218119|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35425963|PMID:35441217|PMID:35451682|PMID:35511670|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35886069|PMID:35887294|PMID:35974385|PMID:35980532|PMID:36003761|PMID:36008825|PMID:36168441|PMID:36219266|PMID:36243179|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37179382|PMID:37336919|PMID:37373225|PMID:37562436|PMID:37563628|PMID:37653074|PMID:37680325|PMID:37704212|PMID:3784963|PMID:37851120|PMID:38050059|PMID:38153744|PMID:38201513|PMID:38355628|PMID:38363490|PMID:38511139|PMID:38519644|PMID:38645101|PMID:38755519|PMID:38825319|PMID:38933650|PMID:3894400|PMID:39003306|PMID:39060302|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651437|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8685209|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10089074|PMID:10097082|PMID:10206274|PMID:10207667|PMID:10229196|PMID:10329187|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10484981|PMID:10486243|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10706125|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10797439|PMID:10802655|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10901165|PMID:10914716|PMID:10922393|PMID:10949938|PMID:10980596|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11161397|PMID:11180592|PMID:11222779|PMID:11229518|PMID:11254385|PMID:11285227|PMID:11313981|PMID:11315715|PMID:11332399|PMID:11358831|PMID:11359905|PMID:11370630|PMID:11391594|PMID:11399766|PMID:11403041|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11453810|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11521785|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668476|PMID:11668501|PMID:11733960|PMID:11753428|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11805092|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11904319|PMID:11920788|PMID:11920959|PMID:1200021|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12070601|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12610779|PMID:12619103|PMID:12619118|PMID:12670525|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12726864|PMID:12759621|PMID:12779080|PMID:12782597|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349102|PMID:1349175|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14670539|PMID:14673037|PMID:1467311|PMID:14743206|PMID:14965603|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15221755|PMID:15308588|PMID:15355915|PMID:1537617|PMID:15381368|PMID:15390294|PMID:15450421|PMID:15469940|PMID:15489903|PMID:15523690|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:1565143|PMID:1565144|PMID:15654279|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15722483|PMID:15741269|PMID:15756275|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:15851479|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16199549|PMID:16204849|PMID:16206219|PMID:16209708|PMID:16229746|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16437140|PMID:1644930|PMID:16461914|PMID:16474844|PMID:16477330|PMID:16487937|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16596195|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:1672732|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16754663|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16818665|PMID:16821082|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16933305|PMID:16941491|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17066464|PMID:17121789|PMID:17133269|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17301252|PMID:17308077|PMID:17311302|PMID:17318340|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417627|PMID:17417775|PMID:17427234|PMID:17436385|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17541742|PMID:17554785|PMID:17557566|PMID:17567834
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17624602|PMID:17627286|PMID:17636407|PMID:17638920|PMID:17683073|PMID:17690113|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17881637|PMID:17903248|PMID:17940213|PMID:17947339|PMID:17974978|PMID:17982662|PMID:17999388|PMID:18037961|PMID:18094375|PMID:18199664|PMID:18208484|PMID:18248785|PMID:18270399|PMID:182969|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18373486|PMID:18393224|PMID:18413811|PMID:18453682|PMID:18489080|PMID:1849234|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18762572|PMID:18798306|PMID:18818522|PMID:18843282|PMID:18923929|PMID:18923936|PMID:18937320|PMID:18940924|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19127115|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19165225|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19224462|PMID:19238535|PMID:19250386|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19416725|PMID:19450127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19521721|PMID:19523860|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19558684|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19711436|PMID:19714488|PMID:19714490|PMID:19717094|PMID:19756158|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:1999338|PMID:20010306|PMID:20013323|PMID:20017945|PMID:20025891|PMID:20028212|PMID:20030809|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20449797|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20501846|PMID:20504876|PMID:20505364|PMID:20506564|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20538734|PMID:20575032|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21153778|PMID:21159183|PMID:21159888|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21288114|PMID:21305319|PMID:21311097|PMID:21319261|PMID:21323968|PMID:21331359|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21348641|PMID:21356188|PMID:21380628|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21457718|PMID:21464421|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21488255|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21546086|PMID:21552135|PMID:21561095|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21621601|PMID:21624955|PMID:21626334|PMID:21630152|PMID:21637529|PMID:21665182|PMID:21665242|PMID:21666498|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21834035|PMID:21878961|PMID:21900752|PMID:21904608|PMID:21934104|PMID:21946351|PMID:21953469|PMID:22004116|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22233476|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22373952|PMID:22427690|PMID:22446329|PMID:22455664|PMID:224644|PMID:22484423|PMID:22495821|PMID:22507745|PMID:22540896|PMID:22551440|PMID:22551548|PMID:22553421|PMID:22553460|PMID:22568511|PMID:22571758|PMID:2259385|PMID:22606048|PMID:22619358|PMID:22652532|PMID:22653678|PMID:22666503|PMID:22672556|PMID:22703879|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722193|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22797305|PMID:22800615
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22811390|PMID:22822097|PMID:22829111|PMID:22862161|PMID:22866089|PMID:22869713|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22923433|PMID:22949826|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23056559|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23409989|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23525797|PMID:23531339|PMID:23538418|PMID:23555315|PMID:23570263|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23630318|PMID:23639312|PMID:23639785|PMID:23665223|PMID:23667202|PMID:23667851|PMID:23713777|PMID:23718828|PMID:23733769|PMID:23742673|PMID:23792586|PMID:23794094|PMID:23825024|PMID:23863845|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23950206|PMID:23967324|PMID:23973262|PMID:23981578|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24113472|PMID:24122735|PMID:24158910|PMID:24171036|PMID:24198462|PMID:24218030|PMID:24219989|PMID:24224046|PMID:24251760|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24382691|PMID:24384472|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24603336|PMID:24630730|PMID:24634504|PMID:24651012|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24677579|PMID:24682512|PMID:24700732|PMID:24702488|PMID:24724063|PMID:24728327|PMID:24729566|PMID:24733378|PMID:24744791|PMID:24763289|PMID:24764719|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24836762|PMID:24853176|PMID:24857548|PMID:24868540|PMID:24884479|PMID:24896186|PMID:24908601|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952744|PMID:25014290|PMID:25034526|PMID:25047674|PMID:25056374|PMID:25059482|PMID:25074920|PMID:25119136|PMID:25123297|PMID:25131192|PMID:25149524|PMID:25157968|PMID:25169539|PMID:25184754|PMID:25186627|PMID:25226867|PMID:25234657|PMID:25256166|PMID:25256751|PMID:25293557|PMID:25294809|PMID:25299233|PMID:25303977|PMID:25318351|PMID:2531845|PMID:25318593|PMID:25326637|PMID:25339039|PMID:25339994|PMID:25348012|PMID:25365311|PMID:253702|PMID:25374282|PMID:25381062|PMID:25404506|PMID:25412846|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25504633|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:25544776|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25587027|PMID:25589003|PMID:25612911|PMID:25619955|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25669829|PMID:25691460|PMID:25730903|PMID:25736369|PMID:25741868|PMID:25742471|PMID:25743702|PMID:25757876|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25794615|PMID:25846456|PMID:25856671|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26271412|PMID:26332594|PMID:26367797|PMID:26425688|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26484312|PMID:26497680|PMID:26514544|PMID:26527317|PMID:26534844|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26641009|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26837699|PMID:26845104|PMID:26851285|PMID:26876197|PMID:26878390
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26900293|PMID:26911350|PMID:26928227|PMID:26976419|PMID:27022024|PMID:27034505|PMID:27050224|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27091190|PMID:27101110|PMID:27101868|PMID:27135926|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27223487|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27328919|PMID:27341992|PMID:27372520|PMID:27374712|PMID:27391063|PMID:27418648|PMID:27443514|PMID:27443517|PMID:27449771|PMID:27463065|PMID:27484708|PMID:27489289|PMID:27493922|PMID:2750177|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27527004|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27601191|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27642012|PMID:27657329|PMID:27662657|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27713152|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27741277|PMID:27754743|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27923552|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28007021|PMID:2802540|PMID:28028119|PMID:28091804|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28166194|PMID:28202063|PMID:28222664|PMID:28230820|PMID:28234344|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28288110|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28446506|PMID:28452373|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28475293|PMID:28477316|PMID:28477317|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28502725|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28528518|PMID:28573494|PMID:28649645|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28744014|PMID:28756477|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28819011|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28902083|PMID:28915717|PMID:28949402|PMID:28961258|PMID:28961279|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:28993730|PMID:29025599|PMID:29056573|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29079597|PMID:29126202|PMID:29170254|PMID:29189820|PMID:29247016|PMID:29263802|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29338689|PMID:29348365|PMID:29360161|PMID:29365323|PMID:29392648|PMID:29456621|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29581140|PMID:29620582|PMID:29625052|PMID:29652801|PMID:29666004|PMID:29667044|PMID:29737433|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29769598|PMID:29770616|PMID:29774081|PMID:29775997|PMID:29785153|PMID:29844874|PMID:29847298|PMID:29875428|PMID:29893455|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29956451|PMID:29958926|PMID:29979956|PMID:29979965|PMID:30032850|PMID:30042151|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30092803|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30130155|PMID:30143849|PMID:30146126|PMID:30147334|PMID:30154229|PMID:30181807|PMID:30190792|PMID:30212483|PMID:30212499|PMID:30216591|PMID:30224644|PMID:30239254|PMID:30240537|PMID:30256826|PMID:30262806|PMID:30264118|PMID:30267214|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30348990|PMID:30350464|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30483911|PMID:30546832|PMID:30583724|PMID:30588330|PMID:30596752|PMID:30607672|PMID:30613367|PMID:30615206|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30833958|PMID:30840781|PMID:30851333|PMID:30875412|PMID:30883245|PMID:30886117|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31092812|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31133068
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31265190|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31365877|PMID:31422574|PMID:31422818|PMID:31462179|PMID:31472337|PMID:31484976|PMID:31494577|PMID:31533767|PMID:31567591|PMID:31666926|PMID:31719099|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31843900|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31882575|PMID:31937788|PMID:31948886|PMID:31949278|PMID:31968253|PMID:31970404|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32095738|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32187361|PMID:32191290|PMID:32283892|PMID:32292755|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32401780|PMID:32427313|PMID:32457520|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32566746|PMID:32592449|PMID:32601264|PMID:32658311|PMID:32658383|PMID:32671623|PMID:32675277|PMID:32704382|PMID:32722340|PMID:32817165|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32930885|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32997996|PMID:32998877|PMID:33011440|PMID:33047316|PMID:33051313|PMID:33057201|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33230179|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33603772|PMID:33606809|PMID:33614491|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33646313|PMID:33674644|PMID:33692861|PMID:33758026|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33854152|PMID:33932062|PMID:34026625|PMID:34049842|PMID:34067731|PMID:34088725|PMID:34095982|PMID:34099776|PMID:34166060|PMID:34169762|PMID:34196900|PMID:34198491|PMID:34240179|PMID:34249098|PMID:34264394|PMID:34266904|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308104|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34426522|PMID:34452612|PMID:34503094|PMID:34504096|PMID:34529667|PMID:34539758|PMID:34540492|PMID:34607348|PMID:34654685|PMID:34670578|PMID:34675114|PMID:34676052|PMID:34709361|PMID:3471991|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34805717|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34885220|PMID:34906214|PMID:34906512|PMID:34907344|PMID:34917121|PMID:34961499|PMID:34994652|PMID:35017683|PMID:35033608|PMID:35043155|PMID:35047863|PMID:35050731|PMID:35084091|PMID:35127508|PMID:35218119|PMID:35246108|PMID:35264596|PMID:35273153|PMID:35306447|PMID:35323354|PMID:35352025|PMID:35367578|PMID:35425963|PMID:35441217|PMID:35451682|PMID:35511670|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35802772|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35886069|PMID:35887294|PMID:35974385|PMID:35980532|PMID:36003761|PMID:36008825|PMID:36168441|PMID:36219266|PMID:36243179|PMID:36290365|PMID:36309086|PMID:36329109|PMID:36493725|PMID:36605468|PMID:36964217|PMID:36980780|PMID:36988593|PMID:37067911|PMID:37149759|PMID:37179382|PMID:37336919|PMID:37373225|PMID:37562436|PMID:37563628|PMID:37653074|PMID:37680325|PMID:37704212|PMID:3784963|PMID:37851120|PMID:38050059|PMID:38153744|PMID:38201513|PMID:38355628|PMID:38363490|PMID:38511139|PMID:38519644|PMID:38645101|PMID:38714106|PMID:38755519|PMID:38825319|PMID:38933650|PMID:3894400|PMID:39003306|PMID:39060302|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7624116|PMID:7651437|PMID:7651740|PMID:7664239|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7731702|PMID:7732013|PMID:7737263|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7955036|PMID:7966399|PMID:7969167|PMID:7978053|PMID:7981076|PMID:8001119|PMID:8012986|PMID:8013454|PMID:8023157|PMID:8023159
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8099841|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8134127|PMID:8156519|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8242752|PMID:8276238|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8352280|PMID:8364550|PMID:8378080|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8458321|PMID:8464896|PMID:8479743|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8649785|PMID:8675009|PMID:8685209|PMID:8688334|PMID:8700525|PMID:8710380|PMID:8718514|PMID:8756654|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8843196|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9364015|PMID:9367778|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9467949|PMID:9470817|PMID:9472631|PMID:9482117|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9607760|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9792154|PMID:9825943|PMID:9839505|PMID:9865903|PMID:9891044|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10526004|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10617466|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10777217|PMID:10780666|PMID:10787423|PMID:10797439|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10980596|PMID:11007040|PMID:11040944|PMID:11051239|PMID:11051241|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11196202|PMID:11222779|PMID:11229518|PMID:11313981|PMID:11332399|PMID:11358831|PMID:11370630|PMID:11390535|PMID:11391594|PMID:11406645|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11523567|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12484572|PMID:12509279|PMID:12610779|PMID:12619103|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12725534|PMID:12726864|PMID:12759240|PMID:12759621|PMID:12779080|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12880966|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14559903|PMID:14584079|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15173255|PMID:15192123|PMID:15221755|PMID:15298727|PMID:15308588|PMID:1537617|PMID:15381368|PMID:15469940|PMID:15510160|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:15642401|PMID:1565143|PMID:1565144|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15710230|PMID:15722483|PMID:15781620|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15964795|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16551709|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:16741917|PMID:16757210|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16969106|PMID:17066464|PMID:17121789|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17361096|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417775|PMID:17498554|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17554785|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17599946|PMID:17606709|PMID:17627286|PMID:17638920|PMID:17683073|PMID:17704262|PMID:17724467|PMID:17727479|PMID:17875924|PMID:17903248|PMID:18199664|PMID:18208484|PMID:18307025|PMID:18348286|PMID:18410249|PMID:18453682|PMID:18489080|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18566217|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18669439|PMID:18685109|PMID:18689542|PMID:18772396|PMID:18772890|PMID:18798306|PMID:18818522|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19225112|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19450127|PMID:19454241|PMID:19462533
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19468865|PMID:19542078|PMID:19556618|PMID:19558493|PMID:19625214|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19714488|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19909015|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:20010306|PMID:20017945|PMID:20028212|PMID:20080630|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20212049|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20471942|PMID:20478780|PMID:20505364|PMID:20514470|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20570896|PMID:20575032|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21159183|PMID:21163964|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21311097|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21457718|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21619694|PMID:21624955|PMID:21626334|PMID:21637529|PMID:21643018|PMID:21672450|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21904608|PMID:21946351|PMID:21953469|PMID:21971842|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170099|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22507745|PMID:22534715|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22606048|PMID:22652532|PMID:22653678|PMID:22661320|PMID:22672556|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722829|PMID:22729912|PMID:22744426|PMID:22768918|PMID:22800615|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22829111|PMID:22832583|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923433|PMID:22929185|PMID:22949826|PMID:22983585|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23538418|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23624782|PMID:23625637|PMID:23665223|PMID:23713777|PMID:23742673|PMID:23792586|PMID:23825024|PMID:23887774|PMID:23894400|PMID:23897043|PMID:23965232|PMID:23967324|PMID:23981578|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24113472|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24171036|PMID:24198462|PMID:24219989|PMID:24224046|PMID:24251760|PMID:2425661|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24332040|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24634504|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24675358|PMID:24677579|PMID:24682512|PMID:24703847|PMID:24705251|PMID:24705254|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24747642|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835218|PMID:24835311|PMID:24857548|PMID:24868540|PMID:24909177|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952746|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25148739|PMID:25186627|PMID:25219808|PMID:25226867|PMID:25293557|PMID:2531845|PMID:25318593|PMID:25336695|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25381062|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25490678|PMID:25503501|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:2554494|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25634208|PMID:25637381|PMID:25691460|PMID:25741868|PMID:25743702|PMID:25757876|PMID:25768946|PMID:25794615|PMID:25881545|PMID:25886176|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26138366|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26257827|PMID:26270727|PMID:26271412|PMID:26367797|PMID:26415226|PMID:26425688|PMID:26443480|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26482474|PMID:26484312|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26632267|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26876197|PMID:26900293|PMID:26911350|PMID:26919320|PMID:26976419|PMID:27059324|PMID:27101868|PMID:27121876|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27165744|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27443514|PMID:27449771|PMID:27463065|PMID:27493922|PMID:27496084|PMID:27499911|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27616075|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27756888|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28007021|PMID:28028119|PMID:28098136|PMID:28125078|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28166194|PMID:28197804|PMID:28202063|PMID:28222664|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28472496|PMID:28477316|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28643781|PMID:28681140|PMID:28724667|PMID:28726821|PMID:28744014|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28915717|PMID:28949402|PMID:28961279|PMID:28966033|PMID:28973705|PMID:28975465|PMID:28993478|PMID:28993730|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29077256|PMID:29105198|PMID:29118384|PMID:29126202|PMID:29222481|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29360161|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29625052|PMID:29666004|PMID:29737433|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29763623|PMID:29769598|PMID:29774081|PMID:29775997|PMID:29785153|PMID:29793804|PMID:29802247|PMID:29844874|PMID:29875428|PMID:29881993|PMID:29933636|PMID:29936259|PMID:29945567|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30051528|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30107044|PMID:30107858|PMID:30126368|PMID:30130155|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30256826|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30455982|PMID:30607672|PMID:30613367|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30861589|PMID:30883245|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31060593|PMID:31067569|PMID:31081129|PMID:31089155|PMID:31092812|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31133068|PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31395785|PMID:31422574|PMID:31462179|PMID:31472337|PMID:31477716|PMID:31487013|PMID:31567591|PMID:31574483|PMID:31719099|PMID:31748977|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31802000|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32191290|PMID:32283892|PMID:32291395|PMID:32310940|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32393201|PMID:32427313|PMID:32453797|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32601264|PMID:32601913|PMID:32619305|PMID:32642724|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32784519|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32980694|PMID:32994724|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163847|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33249490|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33433639|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33580201|PMID:33606809|PMID:33635883|PMID:33646313|PMID:33674644|PMID:33692446|PMID:33753552|PMID:33758026|PMID:33772213|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33850299|PMID:33854152|PMID:33924934|PMID:33932062|PMID:34045312|PMID:34067731|PMID:34095982|PMID:34166060|PMID:34169762|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34266904|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34505757|PMID:34519829|PMID:34529667|PMID:34539758|PMID:34599283|PMID:34670578|PMID:34674226|PMID:34675114|PMID:34676052|PMID:34679713|PMID:34709361|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34805717|PMID:34848827|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34906512|PMID:34907344|PMID:34923763|PMID:34952640|PMID:35031544|PMID:35033608|PMID:35047863|PMID:35050731|PMID:35101336|PMID:35127508|PMID:35195909|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35332262|PMID:35352025|PMID:35441217|PMID:35451682|PMID:35512711|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35886069|PMID:35974385|PMID:35980532|PMID:36059664|PMID:36219266|PMID:36329109|PMID:36457625|PMID:36493725|PMID:36534940|PMID:36871014|PMID:36959380|PMID:36963804|PMID:36964217|PMID:36966138|PMID:36980780|PMID:36988593|PMID:37030635|PMID:37067901|PMID:37067911|PMID:37352859|PMID:37562436|PMID:37563628|PMID:37653074|PMID:37680325|PMID:37937776|PMID:38050059|PMID:38153744|PMID:38201513|PMID:38205536|PMID:38645101|PMID:38702830|PMID:38714106|PMID:3894400|PMID:39060302|PMID:39387369|PMID:39451213|PMID:39520074|PMID:39774325|PMID:39810221|PMID:40543052|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7599045|PMID:7651437|PMID:7651740|PMID:7669577|PMID:7706467|PMID:7718482|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8001119|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8208536|PMID:8242631|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8378080|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8675009|PMID:8688334|PMID:8710380|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8834542|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9164685|PMID:9178891|PMID:9207066|PMID:9218725|PMID:9242456|PMID:9284834|PMID:9285560|PMID:9290701
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9331090|PMID:9364015|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109|PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9839505|PMID:9865903|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10064694|PMID:10097082|PMID:10206274|PMID:10229196|PMID:10366100|PMID:10389749|PMID:10408787|PMID:10411893|PMID:10432928|PMID:10435620|PMID:10449408|PMID:10477429|PMID:10486318|PMID:10497279|PMID:10519380|PMID:10519384|PMID:10526004|PMID:10554037|PMID:10557074|PMID:10562557|PMID:10567903|PMID:10570149|PMID:10589545|PMID:10606817|PMID:10616528|PMID:10617466|PMID:10629033|PMID:10653977|PMID:10654936|PMID:10673500|PMID:10713666|PMID:10719737|PMID:10732753|PMID:10753186|PMID:10754498|PMID:10761705|PMID:10777217|PMID:10780666|PMID:10787423|PMID:10797439|PMID:10811497|PMID:10854221|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10980596|PMID:11007040|PMID:11051239|PMID:11051241|PMID:11124955|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11196202|PMID:11222779|PMID:11229518|PMID:11285227|PMID:11313981|PMID:11332399|PMID:11358831|PMID:11370630|PMID:11390535|PMID:11406645|PMID:11420669|PMID:11420676|PMID:11423991|PMID:11429700|PMID:11429705|PMID:11454518|PMID:11479205|PMID:11523567|PMID:11590071|PMID:11593407|PMID:11668501|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12019170|PMID:12034820|PMID:12124823|PMID:12170762|PMID:12209975|PMID:12406399|PMID:12484572|PMID:12509279|PMID:12610779|PMID:12619103|PMID:12670525|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12716906|PMID:12725534|PMID:12726864|PMID:12759240|PMID:12759621|PMID:12779080|PMID:12792784|PMID:1282660|PMID:12826609|PMID:12880966|PMID:12885464|PMID:12909720|PMID:12917626|PMID:1394133|PMID:14559903|PMID:14587098|PMID:14612556|PMID:14639659|PMID:14673037|PMID:1467311|PMID:14965603|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15192123|PMID:15221755|PMID:15298727|PMID:15308588|PMID:1537617|PMID:15381368|PMID:15469940|PMID:15510160|PMID:15541116|PMID:15548685|PMID:15564800|PMID:15580553|PMID:1559227|PMID:15607980|PMID:15607981|PMID:15611070|PMID:15611505|PMID:1562462|PMID:15630097|PMID:15642401|PMID:1565143|PMID:1565144|PMID:15659650|PMID:1569604|PMID:15703170|PMID:15710230|PMID:15722483|PMID:15781620|PMID:15781632|PMID:15784129|PMID:1581912|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16000567|PMID:16007150|PMID:16033918|PMID:16173033|PMID:16199547|PMID:16204849|PMID:16209708|PMID:16229746|PMID:16258005|PMID:16288208|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:16474844|PMID:16477330|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16522644|PMID:16534790|PMID:16633321|PMID:16644204|PMID:16682957|PMID:16687402|PMID:16707427|PMID:16723121|PMID:16736287|PMID:16741917|PMID:16757210|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16907706|PMID:16941491|PMID:16969106|PMID:17066464|PMID:17121789|PMID:17170001|PMID:17224074|PMID:17224268|PMID:17289876|PMID:17308077|PMID:17311302|PMID:17318340|PMID:17361096|PMID:17390010|PMID:17401428|PMID:17401432|PMID:17417775|PMID:17498554|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17554785|PMID:17557566|PMID:17567834|PMID:17572079|PMID:17576681|PMID:17591842|PMID:17606709|PMID:17627286|PMID:17683073|PMID:17704262|PMID:17724467|PMID:17875924|PMID:17903248|PMID:17947339|PMID:18199664|PMID:18208484|PMID:18307025|PMID:18348285|PMID:18348286|PMID:18410249|PMID:18453682|PMID:18489080|PMID:18511570|PMID:18524770|PMID:18555592|PMID:18563462|PMID:18566217|PMID:18575712|PMID:18580489|PMID:18628487|PMID:18669439|PMID:18685109|PMID:18689542|PMID:18798306|PMID:18818522|PMID:18923936|PMID:18978813|PMID:18989156|PMID:19072763|PMID:19101993|PMID:19127094|PMID:19139070|PMID:19147582|PMID:1915267|PMID:19160491|PMID:19171880|PMID:19174562|PMID:1918170|PMID:19225112|PMID:19238535|PMID:19336573|PMID:1933902|PMID:19367287|PMID:19367569|PMID:19405127|PMID:19416725|PMID:19450127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19542078|PMID:19556618
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19558493|PMID:19671856|PMID:19681600|PMID:19701813|PMID:19759556|PMID:1978757|PMID:19806023|PMID:19834951|PMID:19850740|PMID:19913028|PMID:19930417|PMID:19933256|PMID:19958544|PMID:20010306|PMID:20017945|PMID:20028212|PMID:20080630|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20198344|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:20421238|PMID:20426520|PMID:20436704|PMID:20443084|PMID:20455025|PMID:20471942|PMID:20478780|PMID:20505364|PMID:20514470|PMID:20516128|PMID:20522432|PMID:20570896|PMID:20575032|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:20972454|PMID:20978130|PMID:21056402|PMID:21056685|PMID:21059199|PMID:21060032|PMID:21080251|PMID:21113594|PMID:21153778|PMID:21163964|PMID:21187651|PMID:21192060|PMID:21197471|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21311097|PMID:21323968|PMID:21343334|PMID:21345075|PMID:21348412|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21457718|PMID:21464421|PMID:21483000|PMID:21484931|PMID:21512767|PMID:21514416|PMID:21519010|PMID:21520333|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21561095|PMID:21601526|PMID:21624955|PMID:21626334|PMID:21637529|PMID:21643018|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:21763698|PMID:21900752|PMID:21904608|PMID:21946351|PMID:21953469|PMID:21971842|PMID:22006311|PMID:22046250|PMID:22052707|PMID:22110706|PMID:22114072|PMID:22170099|PMID:22170717|PMID:22178617|PMID:22186996|PMID:22187033|PMID:22198284|PMID:22203015|PMID:22228431|PMID:22265402|PMID:22311583|PMID:22319594|PMID:22354696|PMID:22356895|PMID:22427690|PMID:22446329|PMID:22484423|PMID:22507745|PMID:22534715|PMID:22540896|PMID:22551440|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22606048|PMID:22653678|PMID:22661320|PMID:22672556|PMID:22706378|PMID:22710932|PMID:22713868|PMID:22722829|PMID:22768918|PMID:22800615|PMID:22803791|PMID:22810696|PMID:22820256|PMID:22829111|PMID:22832583|PMID:22862161|PMID:22866089|PMID:22877736|PMID:22887876|PMID:22915647|PMID:22923433|PMID:22929185|PMID:22949826|PMID:23028800|PMID:23031740|PMID:23056405|PMID:23117049|PMID:23124483|PMID:23149933|PMID:23161690|PMID:23175693|PMID:23196062|PMID:23200980|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23334666|PMID:23334668|PMID:23340422|PMID:23359294|PMID:23403321|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23515929|PMID:23531339|PMID:23538418|PMID:23571737|PMID:23580068|PMID:23612969|PMID:23625637|PMID:23665223|PMID:23713777|PMID:23742673|PMID:23792586|PMID:23825024|PMID:23894400|PMID:23897043|PMID:23939625|PMID:23965232|PMID:23967324|PMID:23981578|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24113472|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24171036|PMID:24198462|PMID:24219989|PMID:24224046|PMID:24251760|PMID:2425661|PMID:24256616|PMID:24278325|PMID:24307375|PMID:24326041|PMID:24332040|PMID:24336192|PMID:24356096|PMID:24373500|PMID:24374182|PMID:24382691|PMID:24384472|PMID:24436047|PMID:24448499|PMID:24451277|PMID:24501221|PMID:24549055|PMID:24556621|PMID:24573247|PMID:24594805|PMID:24603336|PMID:24634504|PMID:24651015|PMID:24663046|PMID:24665023|PMID:24675358|PMID:24677579|PMID:24682512|PMID:24703847|PMID:24705251|PMID:24705254|PMID:24728327|PMID:24729566|PMID:24744791|PMID:24747642|PMID:24763289|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24813712|PMID:24814347|PMID:24835311|PMID:24857548|PMID:24868540|PMID:24908601|PMID:24909177|PMID:24916180|PMID:24929325|PMID:24936644|PMID:24952746|PMID:25047674|PMID:25056374|PMID:25074920|PMID:25119136|PMID:25148739|PMID:25149524|PMID:25186627|PMID:25219808|PMID:25226867|PMID:25234657|PMID:25240281|PMID:25293557|PMID:2531845|PMID:25318593|PMID:25336695|PMID:25339994|PMID:25348012|PMID:25365311|PMID:25381062|PMID:25422255|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490274|PMID:25490678|PMID:25503501|PMID:25512523|PMID:25525159|PMID:25527155|PMID:25533637|PMID:2554494|PMID:25584008|PMID:25584637
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25612911|PMID:25634010|PMID:25634208|PMID:25637381|PMID:25691460|PMID:25741868|PMID:25743702|PMID:25757876|PMID:25768946|PMID:2577752|PMID:25794615|PMID:25881545|PMID:25896519|PMID:25907361|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:25981898|PMID:26000489|PMID:26010451|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26029016|PMID:26066407|PMID:26070072|PMID:26086041|PMID:26094658|PMID:26138366|PMID:26181206|PMID:26205489|PMID:26206375|PMID:26225655|PMID:26230955|PMID:26257827|PMID:26270727|PMID:26271412|PMID:26367797|PMID:26415226|PMID:26425688|PMID:26443480|PMID:26447779|PMID:26452166|PMID:26467025|PMID:26482474|PMID:26484312|PMID:26497680|PMID:26534844|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26632267|PMID:26655088|PMID:26659639|PMID:26676804|PMID:26681312|PMID:26681682|PMID:26690524|PMID:26718964|PMID:26723900|PMID:26781615|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26823150|PMID:26845104|PMID:26851285|PMID:26876197|PMID:26900293|PMID:26911350|PMID:26919320|PMID:26976419|PMID:27050224|PMID:27059324|PMID:27091190|PMID:27101868|PMID:27121876|PMID:27146902|PMID:27147571|PMID:27153395|PMID:27157322|PMID:27165744|PMID:27179933|PMID:27189670|PMID:27210295|PMID:27242894|PMID:27276561|PMID:27276934|PMID:27297285|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27341992|PMID:27374712|PMID:27391063|PMID:27443514|PMID:27463065|PMID:27493922|PMID:27496084|PMID:27499911|PMID:2750177|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27545002|PMID:27553368|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27756888|PMID:27785980|PMID:27813088|PMID:27834926|PMID:27844328|PMID:27866339|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27930734|PMID:27959731|PMID:27978560|PMID:27993330|PMID:28007021|PMID:28028119|PMID:28098136|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28166194|PMID:28197804|PMID:28222664|PMID:28255015|PMID:2826609|PMID:28271309|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28452373|PMID:28472496|PMID:28477316|PMID:28484276|PMID:28486781|PMID:28492532|PMID:28499267|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28643781|PMID:28664506|PMID:28681140|PMID:28724667|PMID:28726821|PMID:28744014|PMID:28767289|PMID:28772286|PMID:28772290|PMID:28776571|PMID:28780976|PMID:28791403|PMID:28802053|PMID:28826481|PMID:28843361|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28915717|PMID:28949402|PMID:28961279|PMID:28966033|PMID:28973705|PMID:28975465|PMID:28993730|PMID:29058119|PMID:29059199|PMID:29070607|PMID:29076966|PMID:29077256|PMID:29105198|PMID:29118384|PMID:29126202|PMID:29222481|PMID:29247016|PMID:29263802|PMID:29300620|PMID:29324801|PMID:29360161|PMID:29464067|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29625052|PMID:29666004|PMID:29706651|PMID:29737433|PMID:29752822|PMID:29753700|PMID:29758216|PMID:29763623|PMID:29769598|PMID:29774081|PMID:29775997|PMID:29785153|PMID:29793804|PMID:29802247|PMID:29844874|PMID:29875428|PMID:29881993|PMID:29933636|PMID:29936259|PMID:29946497|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30032850|PMID:30051528|PMID:30057026|PMID:30067863|PMID:30076369|PMID:30089713|PMID:30107044|PMID:30107858|PMID:30126368|PMID:30130155|PMID:30190792|PMID:30212483|PMID:30216591|PMID:30224644|PMID:30240537|PMID:30262806|PMID:30264118|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30441849|PMID:30450585|PMID:30455982|PMID:30607672|PMID:30613367|PMID:30630526|PMID:30653764|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30796655|PMID:30816478|PMID:30828720|PMID:30840781|PMID:30861589|PMID:30918304|PMID:30980208|PMID:30982232|PMID:31016814|PMID:31060593|PMID:31067569|PMID:31081129|PMID:31089155|PMID:31092812|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31133068
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31159747|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31320401|PMID:31321604|PMID:31395785|PMID:31422574|PMID:31462179|PMID:31472337|PMID:31477716|PMID:31487013|PMID:31533767|PMID:31567591|PMID:31574483|PMID:31605946|PMID:31637714|PMID:31748977|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31854063|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32019277|PMID:32029870|PMID:32126783|PMID:32164171|PMID:32179180|PMID:32183364|PMID:32191290|PMID:32283892|PMID:32291395|PMID:32310940|PMID:32318955|PMID:32322110|PMID:32322420|PMID:32371905|PMID:32393201|PMID:32427313|PMID:32453797|PMID:32475984|PMID:32504211|PMID:32552660|PMID:32554555|PMID:32555031|PMID:32577752|PMID:32601264|PMID:32601913|PMID:32619305|PMID:32642724|PMID:32658383|PMID:32675277|PMID:32722340|PMID:32784519|PMID:32817165|PMID:32885271|PMID:32899294|PMID:32906206|PMID:32916163|PMID:32980694|PMID:32994724|PMID:33047316|PMID:33051313|PMID:33087929|PMID:33089535|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33163904|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33249490|PMID:33257846|PMID:33300245|PMID:33309985|PMID:33332384|PMID:33372952|PMID:33433639|PMID:33436392|PMID:33471991|PMID:33504652|PMID:33534120|PMID:33580201|PMID:33606809|PMID:33633026|PMID:33635883|PMID:33646313|PMID:33674644|PMID:33692446|PMID:33753552|PMID:33758026|PMID:33772213|PMID:33810361|PMID:33818021|PMID:33840814|PMID:33850299|PMID:33854152|PMID:33924934|PMID:33932062|PMID:34045312|PMID:34067731|PMID:34095982|PMID:34166060|PMID:34169762|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34266904|PMID:34273903|PMID:34284872|PMID:34299313|PMID:34308366|PMID:34326862|PMID:34390506|PMID:34423517|PMID:34452612|PMID:34505757|PMID:34519829|PMID:34529667|PMID:34539758|PMID:34599283|PMID:34674226|PMID:34675114|PMID:34679713|PMID:34709361|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34793697|PMID:34796414|PMID:34805717|PMID:34848827|PMID:34863587|PMID:34880421|PMID:34881245|PMID:34906512|PMID:34907344|PMID:34923763|PMID:34952640|PMID:35031544|PMID:35033608|PMID:35047863|PMID:35050731|PMID:35101336|PMID:35195909|PMID:35246108|PMID:35264596|PMID:35306447|PMID:35332262|PMID:35352025|PMID:35441217|PMID:35451682|PMID:35512711|PMID:35534218|PMID:35534704|PMID:35626031|PMID:35659507|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35886069|PMID:35974385|PMID:35980532|PMID:36168441|PMID:36219266|PMID:36271929|PMID:36290365|PMID:36329109|PMID:36457625|PMID:36493725|PMID:36534940|PMID:36871014|PMID:36959380|PMID:36963804|PMID:36964217|PMID:36966138|PMID:36988593|PMID:37030635|PMID:37067901|PMID:37067911|PMID:37352859|PMID:37562436|PMID:37563628|PMID:37623222|PMID:37653074|PMID:37680325|PMID:37937776|PMID:38050059|PMID:38153744|PMID:38201513|PMID:38205536|PMID:38645101|PMID:38702830|PMID:38714106|PMID:38867333|PMID:3894400|PMID:39060302|PMID:39387369|PMID:39451213|PMID:39520074|PMID:39536727|PMID:39774325|PMID:39810221|PMID:40119744|PMID:40543052|PMID:6736287|PMID:7478555|PMID:7599045|PMID:7651437|PMID:7651740|PMID:7669577|PMID:7700647|PMID:7706467|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7796267|PMID:7799951|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7966399|PMID:7981076|PMID:8001119|PMID:8023157|PMID:8023159|PMID:8034301|PMID:8062826|PMID:8075648|PMID:8080050|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8208536|PMID:8242631|PMID:8302608|PMID:8308926|PMID:8336941|PMID:8378080|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8639798|PMID:8649776|PMID:8675009|PMID:8688334|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8834542|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9115587|PMID:9150393|PMID:9157982|PMID:9164685|PMID:9178891|PMID:9207066|PMID:9242456|PMID:9284834|PMID:9285560|PMID:9290701|PMID:9301461|PMID:9331090|PMID:9364015|PMID:9407971|PMID:9418900|PMID:9446663|PMID:9452042|PMID:9470817|PMID:9472631|PMID:9524109
12119451	TP53	tumor protein p53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9525742|PMID:9536098|PMID:9546439|PMID:9569035|PMID:9572492|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9667734|PMID:9681828|PMID:9704930|PMID:9704931|PMID:9766574|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17300232
12119451	TP53	tumor protein p53	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12378512|PMID:16410370
12119451	TP53	tumor protein p53	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19435901
12119451	TP53	tumor protein p53	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	RGD			PMID:16778087|REF_RGD_ID:8547873
12119451	TP53	tumor protein p53	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:oral epithelium	PMID:17595763|REF_RGD_ID:2290572
12119451	TP53	tumor protein p53	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24224046
12119451	TP53	tumor protein p53	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:11440	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: therapeutic	PMID:40480416
12119451	TP53	tumor protein p53	gene	DOID:9007400	Lip Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:17238970|REF_RGD_ID:8662391
12119451	TP53	tumor protein p53	gene	DOID:9007456	Female Infertility		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22532853
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:11440	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:16860786
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834319	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:12826609|PMID:16474844|PMID:20407015|PMID:21343334|PMID:23967324|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:9407971
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834336|RGD:12834444|RGD:12834468|RGD:12834477|RGD:12834495|RGD:12835020|RGD:12835560|RGD:12836868|RGD:12838158	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Brain Neoplasms | ClinVar Annotator: match by term: Neoplasm of brain	PMID:26619011
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834371	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:12509279|PMID:12826609|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834380	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:11920788|PMID:12826609|PMID:1565143|PMID:20128691|PMID:21343334|PMID:21747090|PMID:2259385|PMID:26619011|PMID:28492532
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834447	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:10432928|PMID:12826609|PMID:15977174|PMID:18307025|PMID:19101993|PMID:19556618|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:8023157|PMID:8118819
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834484	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:12826609|PMID:25741868|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:30816478|PMID:32000721
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12834770	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Brain Neoplasms	PMID:11370630|PMID:12826609|PMID:17606709|PMID:20505364|PMID:21343334|PMID:22109999|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:12836427	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:12826609|PMID:16508005|PMID:17401428|PMID:18511570|PMID:20127978|PMID:20407015|PMID:20522432|PMID:25503501|PMID:25741868|PMID:26014290|PMID:26619011|PMID:26845104|PMID:27533082|PMID:28492532|PMID:29752822|PMID:29753700
12119451	TP53	tumor protein p53	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:8698324	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Neoplasm of brain	PMID:11370630|PMID:12826609|PMID:16861262|PMID:17606709|PMID:21343334|PMID:25741868|PMID:25945745|PMID:26619011|PMID:28492532|PMID:29979965|PMID:30224644|PMID:32295079
12119451	TP53	tumor protein p53	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22009531
12119451	TP53	tumor protein p53	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15550242
12119451	TP53	tumor protein p53	gene	DOID:9007701	Central Nervous System Neoplasms		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12119451	TP53	tumor protein p53	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7955072
12119451	TP53	tumor protein p53	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:18317410|REF_RGD_ID:2290554
12119451	TP53	tumor protein p53	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18621066|PMID:19203779
12119451	TP53	tumor protein p53	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms	PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20195489|PMID:20234365|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20589832|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21113594|PMID:21115975|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25294809|PMID:25339994|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms	PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28176830|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8829653|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms | ClinVar Annotator: match by term: Colorectal neoplasm	PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26556299|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27179933|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31300551|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32401780|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33758026|PMID:34308366|PMID:34805717|PMID:34994652|PMID:35938033|PMID:36329109|PMID:36988593|PMID:4122735|PMID:6736287|PMID:7565304|PMID:7707106|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7783166|PMID:7881428|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8633021|PMID:8688334|PMID:8718514|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms	PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10922393|PMID:11051239|PMID:11051241|PMID:11139324|PMID:11152481|PMID:11180592|PMID:11313981|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11593407|PMID:11668501|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:1631137|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16778209|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:18208484|PMID:18307025|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19101993|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367287|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:1978757|PMID:19850740|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21188122|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21331359|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22265402|PMID:22319594|PMID:22427690|PMID:22484423|PMID:22551548|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:23028800|PMID:23031740|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23255406|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23340422|PMID:23406775|PMID:23484829|PMID:23538418|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23792586|PMID:23894400|PMID:23939625|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24307375|PMID:24381225|PMID:24382691|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms	PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24940547|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:25339994|PMID:253702|PMID:25381062|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25691460|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26628864|PMID:26655088|PMID:26659639|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26818906|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27050224|PMID:27077130|PMID:27179933|PMID:27189670|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27501770|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27726232|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28166194|PMID:28279309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28772286|PMID:28802053|PMID:28861920|PMID:28873162|PMID:28949402|PMID:28973705|PMID:28975465|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30607672|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31296311|PMID:31300551|PMID:31533767|PMID:31748977|PMID:31775759|PMID:31881331|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32164171|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32457520|PMID:32475984|PMID:32658383|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33633026|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34049842|PMID:34240179|PMID:34308366|PMID:34529667|PMID:34670578|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36168441|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:38355628|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9049183|PMID:9049184|PMID:9067756|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9525742
12119451	TP53	tumor protein p53	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Colorectal Neoplasms	PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9825943
12119451	TP53	tumor protein p53	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:11440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9493073
12119451	TP53	tumor protein p53	gene	DOID:9008828	Li-Fraumeni-Like Syndrome		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: LI-FRAUMENI-LIKE SYNDROME | ClinVar Annotator: match by term: Li-fraumeni-like syndrome	PMID:11429705|PMID:12726864|PMID:12826609|PMID:12917626|PMID:1679237|PMID:17606709|PMID:18511570|PMID:19147582|PMID:19930417|PMID:20128691|PMID:20407015|PMID:20805372|PMID:21059199|PMID:21343334|PMID:2531845|PMID:2554494|PMID:25741868|PMID:25896519|PMID:27276934|PMID:28492532|PMID:29958926|PMID:29979965|PMID:30224644|PMID:31168460|PMID:32126783|PMID:32179180|PMID:33300245|PMID:33471991|PMID:35246108|PMID:7791795|PMID:8023157|PMID:8134127|PMID:8164043|PMID:9364015|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19701813|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25318593|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27081505|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28949402|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30596752|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33087929|PMID:33138793|PMID:33163847
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:33178583|PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35367578|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9482117|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12076704|PMID:12124823|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17974978|PMID:18208484|PMID:18248785|PMID:18307025|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19701813|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20308654|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:23028800|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25318593|PMID:25339994|PMID:253702|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27081505|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28949402|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30596752|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32295079|PMID:32318955|PMID:32371905|PMID:32401780|PMID:32475984|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33178583
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:33208383|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35367578|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9482117|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10064694|PMID:10089074|PMID:10229196|PMID:10366100|PMID:10411893|PMID:10432928|PMID:10519380|PMID:10567903|PMID:10589545|PMID:10616528|PMID:10629033|PMID:10713666|PMID:10732753|PMID:10753186|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10871862|PMID:10914716|PMID:10922393|PMID:10949938|PMID:11051239|PMID:11051241|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11222779|PMID:11313981|PMID:11315715|PMID:11370630|PMID:11429705|PMID:11479205|PMID:11481490|PMID:11494139|PMID:11521785|PMID:11590071|PMID:11593407|PMID:11600572|PMID:11668501|PMID:11753428|PMID:11782540|PMID:11793474|PMID:11867759|PMID:11896595|PMID:11900253|PMID:11904319|PMID:11920788|PMID:11920959|PMID:12007217|PMID:12034820|PMID:12124823|PMID:12406399|PMID:124622|PMID:12506399|PMID:12509279|PMID:12619118|PMID:12672316|PMID:12695689|PMID:12700230|PMID:12702523|PMID:12726864|PMID:12782597|PMID:12792784|PMID:12826609|PMID:12885464|PMID:12901974|PMID:12909720|PMID:12917626|PMID:1349175|PMID:14559903|PMID:14584079|PMID:14673037|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15138567|PMID:15161705|PMID:15221755|PMID:15381368|PMID:15390294|PMID:15541116|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15741269|PMID:15781620|PMID:15825182|PMID:15850016|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:15982667|PMID:15993273|PMID:16033918|PMID:16206219|PMID:16209708|PMID:16247456|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16312222|PMID:16322298|PMID:16337994|PMID:16401470|PMID:1644930|PMID:16474844|PMID:16489069|PMID:16492679|PMID:16494995|PMID:16508005|PMID:16551709|PMID:16633321|PMID:16682957|PMID:16736287|PMID:1673792|PMID:16741917|PMID:16750598|PMID:16778209|PMID:1679237|PMID:16793544|PMID:16818505|PMID:16827139|PMID:1683921|PMID:16861262|PMID:1686725|PMID:16933305|PMID:17015838|PMID:17170001|PMID:17308077|PMID:17311302|PMID:1737852|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17540308|PMID:17541742|PMID:17567834|PMID:17572079|PMID:17606709|PMID:17636407|PMID:17724467|PMID:17875924|PMID:17881637|PMID:17940213|PMID:17974978|PMID:18208484|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18391940|PMID:18453682|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18937320|PMID:18940924|PMID:18978813|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19147582|PMID:1915267|PMID:19171880|PMID:1918170|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19468865|PMID:19556618|PMID:19681600|PMID:19701813|PMID:19717094|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19877175|PMID:19881536|PMID:19913028|PMID:19930417|PMID:20013323|PMID:20028212|PMID:20113312|PMID:20118236|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20195489|PMID:20234365|PMID:20301488|PMID:20364130|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20589832|PMID:20593220|PMID:20689556|PMID:20693561|PMID:20805372|PMID:20878954|PMID:20972454|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21115975|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21188122|PMID:21192060|PMID:21232794|PMID:21305319|PMID:21319261|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21468523|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21626334|PMID:21630152|PMID:21674059|PMID:21747090|PMID:21760960|PMID:21760996|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22052707|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22198284|PMID:22233476|PMID:22265402|PMID:22427690|PMID:22455664|PMID:22484423|PMID:22553421|PMID:22553460|PMID:2259385|PMID:22619358|PMID:22666503|PMID:22672556|PMID:22698404|PMID:22710932|PMID:22713868|PMID:22768918|PMID:22811390|PMID:22822097|PMID:22862161
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:22869713|PMID:22887876|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22999923|PMID:23028800|PMID:23031740|PMID:23056559|PMID:23124483|PMID:23161690|PMID:23165212|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23340422|PMID:23406775|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23612969|PMID:23625637|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23894400|PMID:23950206|PMID:23967324|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24076587|PMID:24122735|PMID:24256616|PMID:24381225|PMID:24384472|PMID:24487413|PMID:24501221|PMID:24549055|PMID:24573247|PMID:24590827|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24763289|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:24940547|PMID:25059482|PMID:25119136|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25293557|PMID:25294809|PMID:2531845|PMID:25318593|PMID:25339994|PMID:253702|PMID:25381062|PMID:25404506|PMID:25428789|PMID:25433984|PMID:25503501|PMID:25504633|PMID:25525159|PMID:2554494|PMID:25564201|PMID:25584008|PMID:25584637|PMID:25612911|PMID:25619955|PMID:25634208|PMID:25669829|PMID:25691460|PMID:25736369|PMID:25741868|PMID:25757876|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:25961455|PMID:25980754|PMID:26014290|PMID:26022348|PMID:26024390|PMID:26066407|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26270727|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26497680|PMID:2654466|PMID:26554828|PMID:26556299|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26655088|PMID:26659639|PMID:26681051|PMID:26681312|PMID:26781615|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:26976419|PMID:27022024|PMID:27077130|PMID:27081505|PMID:27101110|PMID:27153395|PMID:27179933|PMID:27189670|PMID:27223487|PMID:27276561|PMID:27276934|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27489289|PMID:27493922|PMID:27501770|PMID:27516001|PMID:27523101|PMID:27533082|PMID:27557517|PMID:27601191|PMID:27616075|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27911860|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28160093|PMID:28166194|PMID:28271309|PMID:28279309|PMID:28349240|PMID:28356770|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28756477|PMID:28772286|PMID:28776571|PMID:28802053|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28949402|PMID:28968711|PMID:28973705|PMID:28975465|PMID:28984303|PMID:29025599|PMID:29058119|PMID:29070607|PMID:29076966|PMID:29126202|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29666004|PMID:29752822|PMID:29753700|PMID:29875428|PMID:29922827|PMID:29946497|PMID:29956451|PMID:29958926|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30093976|PMID:30099178|PMID:30107044|PMID:30107858|PMID:30128536|PMID:30147334|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30299350|PMID:30306255|PMID:30311369|PMID:30318520|PMID:30322717|PMID:30327374|PMID:30352134|PMID:30450585|PMID:30583724|PMID:30596752|PMID:30630526|PMID:30675318|PMID:30709381|PMID:30709875|PMID:30720243|PMID:30730202|PMID:30816478|PMID:30840781|PMID:30918304|PMID:30982232|PMID:31016814|PMID:31050713|PMID:31081129|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31168460|PMID:31206626|PMID:31212162|PMID:31278746|PMID:31296311|PMID:31300551|PMID:31494577|PMID:31559875|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31882575|PMID:31978118|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32126783|PMID:32156018|PMID:32164171|PMID:32179180|PMID:32187361|PMID:32292755|PMID:32295079|PMID:32318955
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:32371905|PMID:32401780|PMID:32457520|PMID:32475984|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32885271|PMID:32888145|PMID:32906206|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33087929|PMID:33138793|PMID:33163847|PMID:33178583|PMID:33208383|PMID:33245408|PMID:33258288|PMID:33300245|PMID:33332384|PMID:33372952|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33633026|PMID:33635883|PMID:33637564|PMID:33674644|PMID:33758026|PMID:33818021|PMID:33840814|PMID:34026625|PMID:34240179|PMID:34266904|PMID:34308366|PMID:34529667|PMID:34670578|PMID:34675114|PMID:34709361|PMID:34793666|PMID:34805717|PMID:34885220|PMID:34994652|PMID:35033608|PMID:35127508|PMID:35264596|PMID:35367578|PMID:35820297|PMID:35938033|PMID:35974385|PMID:36003761|PMID:36219266|PMID:36329109|PMID:36988593|PMID:3784963|PMID:38355628|PMID:4122735|PMID:6736287|PMID:7478555|PMID:7565304|PMID:7651740|PMID:7707106|PMID:7718482|PMID:7732013|PMID:7737263|PMID:7750099|PMID:7761089|PMID:7783166|PMID:7791795|PMID:7881428|PMID:7885831|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8080050|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8276238|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8364550|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8550239|PMID:8631304|PMID:8633021|PMID:8649776|PMID:8688334|PMID:8718514|PMID:8816796|PMID:8825920|PMID:8829627|PMID:8869100|PMID:9020384|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9096669|PMID:9150393|PMID:9157982|PMID:9218725|PMID:9242456|PMID:9268986|PMID:9290701|PMID:9364015|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9482117|PMID:9525742|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9582268|PMID:9598730|PMID:960674|PMID:9627118|PMID:9632751|PMID:9635828|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9825943|PMID:9839505|PMID:9979965
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:11793474|PMID:12826609|PMID:16861262|PMID:25741868|PMID:26659639|PMID:28492532|PMID:29979965|PMID:30224644|PMID:8633021
12119451	TP53	tumor protein p53	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.R72P	PMID:18230179|REF_RGD_ID:2290534
12119451	TP53	tumor protein p53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10411893|PMID:10449408|PMID:10486318|PMID:10497279|PMID:10554037|PMID:10761705|PMID:10797439|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11423991|PMID:11429705|PMID:11479205|PMID:11756653|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11920959|PMID:12700230|PMID:12726864|PMID:12826609|PMID:12917626|PMID:14559903|PMID:14612556|PMID:15221755|PMID:15381368|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1581912|PMID:1591732|PMID:15925506|PMID:16007150|PMID:16199547|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16534790|PMID:16633321|PMID:16682957|PMID:16778209|PMID:1679237|PMID:16818505|PMID:1683921|PMID:16861262|PMID:1686725|PMID:17066464|PMID:17311302|PMID:17361096|PMID:17576681|PMID:17606709|PMID:17875924|PMID:18348285|PMID:18348286|PMID:18511570|PMID:18555592|PMID:18685109|PMID:18689542|PMID:18818522|PMID:18989156|PMID:19147582|PMID:19160491|PMID:19225112|PMID:19367569|PMID:19405127|PMID:19450127|PMID:19542078|PMID:19556618|PMID:19850740|PMID:19930417|PMID:20113312|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20471942|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20948308|PMID:20967502|PMID:21059199|PMID:21060032|PMID:21113594|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22427690|PMID:22653678|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23117049|PMID:23161690|PMID:23175693|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23713777|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24140581|PMID:24278325|PMID:24332040|PMID:24336192|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24556621|PMID:24677579|PMID:24705251|PMID:24797764|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24929325|PMID:24936644|PMID:24952746|PMID:25148739|PMID:25186627|PMID:25219808|PMID:2531845|PMID:25428789|PMID:25433984|PMID:25452441|PMID:25490678|PMID:25503501|PMID:2554494|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25925845|PMID:25952993|PMID:26000489|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26270727|PMID:26367797|PMID:26425688|PMID:26467025|PMID:26484312|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26690524|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26976419|PMID:27050224|PMID:27059324|PMID:27101868|PMID:27121876|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27276934|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27501770|PMID:27557517|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27844328|PMID:27866339|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28028119|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28506684|PMID:28509937|PMID:28545823|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28767289|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28912153|PMID:28966033|PMID:28975465|PMID:29059199|PMID:29070607|PMID:29263802|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29752822|PMID:29753700|PMID:29763623|PMID:29933636|PMID:29955864|PMID:29958926|PMID:29979965|PMID:30067863|PMID:30076369|PMID:30224644|PMID:30264118|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30352134|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30653764|PMID:30720243|PMID:30796655|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31060593|PMID:31081129|PMID:31089155|PMID:31119730|PMID:31168460|PMID:31278746|PMID:31321604|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31567591|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:31948886|PMID:32000721|PMID:32029870|PMID:32126783|PMID:32179180|PMID:32322420|PMID:32475984|PMID:32554555|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519
12119451	TP53	tumor protein p53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32817165|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33128190|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33758026|PMID:33772213|PMID:33818021|PMID:33850299|PMID:33924934|PMID:34067731|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34273903|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34739844|PMID:34754157|PMID:34793666|PMID:34796414|PMID:34848827|PMID:34906512|PMID:34907344|PMID:35033608|PMID:35101336|PMID:35332262|PMID:35512711|PMID:35534704|PMID:35626031|PMID:35705558|PMID:35705560|PMID:35820297|PMID:35875466|PMID:35884425|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:37563628|PMID:38153744|PMID:38201513|PMID:38702830|PMID:3894400|PMID:39060302|PMID:39520074|PMID:39774325|PMID:40543052|PMID:7599045|PMID:7651437|PMID:7651740|PMID:7732013|PMID:7791795|PMID:7796267|PMID:7887414|PMID:7981076|PMID:8023157|PMID:8023159|PMID:8062826|PMID:8102535|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8308926|PMID:8378080|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:8675009|PMID:9164685|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9667734|PMID:9704930|PMID:9839505
12119451	TP53	tumor protein p53	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33120919|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28176830|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30152528|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Acute myelogenous leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8829653|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:1359493|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:15977174|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20308654|PMID:20407015|PMID:2046748|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22862161|PMID:22899716|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22999923|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25326637|PMID:25339994|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26534844|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28724667|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Inherited acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32658383|PMID:32817165|PMID:32906206|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:34266904|PMID:35938033|PMID:36329109|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:9047394|PMID:9049183|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:10089074|PMID:10411893|PMID:10432928|PMID:10589545|PMID:10616528|PMID:10713666|PMID:10761705|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11051239|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11370630|PMID:11403041|PMID:11429705|PMID:11479205|PMID:11494139|PMID:11593407|PMID:11782540|PMID:11793474|PMID:11896595|PMID:11900253|PMID:11904319|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12567188|PMID:12672316|PMID:12700230|PMID:12726864|PMID:12792784|PMID:12826609|PMID:12917626|PMID:14559903|PMID:14584079|PMID:14743206|PMID:15004724|PMID:15017592|PMID:15037740|PMID:15077194|PMID:15221755|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15580553|PMID:15607980|PMID:15607981|PMID:15611505|PMID:1565143|PMID:1565144|PMID:1569604|PMID:15722483|PMID:15781620|PMID:15825182|PMID:15951970|PMID:16199549|PMID:16209708|PMID:16258005|PMID:16288208|PMID:1631137|PMID:1631151|PMID:16337994|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16508005|PMID:16633321|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17390010|PMID:17401428|PMID:17417627|PMID:17427234|PMID:17530187|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17724467|PMID:17875924|PMID:17881637|PMID:18307025|PMID:18511570|PMID:18555592|PMID:18628487|PMID:18685109|PMID:18689542|PMID:19101993|PMID:19147582|PMID:19336573|PMID:19367569|PMID:19378321|PMID:19405127|PMID:19454241|PMID:19462533|PMID:19521721|PMID:19556618|PMID:19681600|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19834951|PMID:19850740|PMID:19930417|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20182602|PMID:20407015|PMID:2046748|PMID:20505364|PMID:20506564|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20693561|PMID:20805372|PMID:21056685|PMID:21059199|PMID:21080251|PMID:21113594|PMID:21118481|PMID:21159183|PMID:21187651|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21483000|PMID:21484931|PMID:21514416|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21590121|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22090360|PMID:22109999|PMID:22110706|PMID:22186996|PMID:22265402|PMID:22427690|PMID:22484423|PMID:22540896|PMID:22553421|PMID:22666503|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22862161|PMID:22869713|PMID:22915647|PMID:22919068|PMID:22923379|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23028800|PMID:23161690|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23264849|PMID:23265383|PMID:23334668|PMID:23484829|PMID:23538418|PMID:23612969|PMID:23624782|PMID:23630318|PMID:23667202|PMID:23713777|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24065105|PMID:24256616|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24603336|PMID:24641375|PMID:24651012|PMID:24651015|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24744791|PMID:24810334|PMID:25157968|PMID:25256166|PMID:25294809|PMID:25339994|PMID:253702|PMID:25404506|PMID:25433984|PMID:25503501|PMID:25525159|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25925845|PMID:25927356|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26066407|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26497680|PMID:26554828|PMID:26585234|PMID:26619011|PMID:26659639|PMID:26681312|PMID:26787237|PMID:26822237|PMID:26845104|PMID:27022024|PMID:27276561|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27533082|PMID:27557517|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27724982|PMID:27813088|PMID:27873457|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28135145|PMID:28152038|PMID:28154273|PMID:28271309|PMID:28356770|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28477316|PMID:28492532|PMID:28573494|PMID:28724667|PMID:28772286|PMID:28861920|PMID:28873162|PMID:28975465
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: ETV6-related condition | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:29025599|PMID:29070607|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29752822|PMID:29753700|PMID:29946497|PMID:29979965|PMID:30076369|PMID:30093976|PMID:30128536|PMID:30216591|PMID:30224644|PMID:30287823|PMID:30311369|PMID:30318520|PMID:30327374|PMID:30352134|PMID:30720243|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31119730|PMID:31121848|PMID:31127191|PMID:31206626|PMID:31212162|PMID:31300551|PMID:31559875|PMID:31748977|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32187361|PMID:32295079|PMID:32457520|PMID:32658383|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33138793|PMID:33208383|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:33580201|PMID:33635883|PMID:33674644|PMID:33818021|PMID:33840814|PMID:34240179|PMID:34266904|PMID:34675114|PMID:34793666|PMID:35127508|PMID:35820297|PMID:35938033|PMID:36329109|PMID:36988593|PMID:38355628|PMID:7651740|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8099841|PMID:8118819|PMID:8164043|PMID:8242631|PMID:8242752|PMID:8308926|PMID:8336941|PMID:8344492|PMID:8423216|PMID:8425176|PMID:8464896|PMID:8479749|PMID:8527048|PMID:8633021|PMID:8649776|PMID:8816796|PMID:9047394|PMID:9049183|PMID:9049184|PMID:9150393|PMID:9242456|PMID:9290701|PMID:9399658|PMID:9399838|PMID:9407971|PMID:9418900|PMID:9482117|PMID:9546439|PMID:9569050|PMID:9572492|PMID:9598730|PMID:9607760|PMID:9627118|PMID:9662334|PMID:9704930|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:10089074|PMID:10802655|PMID:11051239|PMID:11370630|PMID:11403041|PMID:11782540|PMID:11793474|PMID:12567188|PMID:12826609|PMID:14584079|PMID:14743206|PMID:15355915|PMID:16199549|PMID:16209708|PMID:16258005|PMID:1631137|PMID:1631151|PMID:16489069|PMID:16818505|PMID:16861262|PMID:16964264|PMID:17311302|PMID:17417627|PMID:17427234|PMID:17535973|PMID:17599946|PMID:17606709|PMID:17638920|PMID:17881637|PMID:18555592|PMID:18628487|PMID:19147582|PMID:19378321|PMID:19521721|PMID:19556618|PMID:1975675|PMID:19759556|PMID:1978757|PMID:19850740|PMID:1999338|PMID:20013323|PMID:20017945|PMID:20128691|PMID:20182602|PMID:20407015|PMID:20505364|PMID:20520810|PMID:20522432|PMID:21059199|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21519010|PMID:21601526|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22109999|PMID:22186996|PMID:22265402|PMID:22540896|PMID:22703879|PMID:22713868|PMID:22729912|PMID:22744426|PMID:22915647|PMID:22955915|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23172776|PMID:23196062|PMID:23246812|PMID:23264849|PMID:23624782|PMID:23667202|PMID:23887774|PMID:23950206|PMID:24033266|PMID:24038938|PMID:24573247|PMID:24603336|PMID:24651015|PMID:24728327|PMID:25157968|PMID:253702|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25925845|PMID:25927356|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26787237|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27680515|PMID:27895058|PMID:27959731|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28724667|PMID:29025599|PMID:29522266|PMID:29979965|PMID:30224644|PMID:30327374|PMID:30720243|PMID:30840781|PMID:31105275|PMID:31127191|PMID:31775759|PMID:32187361|PMID:33245408|PMID:33300245|PMID:33580201|PMID:33818021|PMID:34793666|PMID:35127508|PMID:36329109|PMID:36988593|PMID:7887414|PMID:8062826|PMID:8099841|PMID:8242752|PMID:8344492|PMID:8425176|PMID:8464896|PMID:8527048|PMID:8633021|PMID:9150393|PMID:9242456|PMID:9598730|PMID:9607760|PMID:9825943|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: RUNX1-related disorder	PMID:10802655|PMID:11051239|PMID:11370630|PMID:11403041|PMID:11793474|PMID:12567188|PMID:12826609|PMID:14584079|PMID:15355915|PMID:16199549|PMID:16209708|PMID:16258005|PMID:1631151|PMID:16489069|PMID:16861262|PMID:16964264|PMID:17311302|PMID:17535973|PMID:17599946|PMID:17606709|PMID:17638920|PMID:18555592|PMID:18628487|PMID:19147582|PMID:19521721|PMID:19556618|PMID:1975675|PMID:19759556|PMID:19850740|PMID:1999338|PMID:20017945|PMID:20505364|PMID:20520810|PMID:20522432|PMID:21159183|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21619694|PMID:21672450|PMID:21761402|PMID:22109999|PMID:22540896|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23196062|PMID:23264849|PMID:23624782|PMID:23887774|PMID:24728327|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25927356|PMID:26014290|PMID:26425688|PMID:27501770|PMID:28135145|PMID:28369373|PMID:28472496|PMID:28492532|PMID:29522266|PMID:29979965|PMID:30224644|PMID:30720243|PMID:30840781|PMID:31105275|PMID:31775759|PMID:33245408|PMID:33580201|PMID:33818021|PMID:34793666|PMID:35127508|PMID:36329109|PMID:7887414|PMID:8242752|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9607760|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:11051239|PMID:11793474|PMID:12726864|PMID:12826609|PMID:14584079|PMID:16209708|PMID:16489069|PMID:16633321|PMID:16778209|PMID:16861262|PMID:17311302|PMID:17361096|PMID:17606709|PMID:17875924|PMID:18511570|PMID:18555592|PMID:18628487|PMID:19147582|PMID:19556618|PMID:19759556|PMID:19850740|PMID:21113594|PMID:21159183|PMID:21232794|PMID:21343334|PMID:21761402|PMID:21971842|PMID:22427690|PMID:22540896|PMID:22832583|PMID:22983585|PMID:22989750|PMID:22999923|PMID:23196062|PMID:23264849|PMID:24140581|PMID:24705251|PMID:25148739|PMID:25219808|PMID:25433984|PMID:25741868|PMID:25927356|PMID:26425688|PMID:26585234|PMID:27501770|PMID:27557517|PMID:27993330|PMID:28135145|PMID:28492532|PMID:28545823|PMID:28573494|PMID:28912153|PMID:28966033|PMID:28993478|PMID:29324801|PMID:29522266|PMID:29763623|PMID:29979965|PMID:30224644|PMID:30326163|PMID:30588330|PMID:30720243|PMID:30840781|PMID:31119730|PMID:32817165|PMID:32980694|PMID:33138793|PMID:33245408|PMID:33580201|PMID:33692446|PMID:33772213|PMID:33818021|PMID:34793666|PMID:35101336|PMID:35127508|PMID:35332262|PMID:35820297|PMID:37030635|PMID:7887414|PMID:8344492|PMID:8464896|PMID:8633021|PMID:9164685|PMID:9627118
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD			PMID:25412846|REF_RGD_ID:11057925
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutation: :	PMID:24836762|REF_RGD_ID:11073714
12119451	TP53	tumor protein p53	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:25573287|REF_RGD_ID:11075071
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10797439|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11479205|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:17015838|PMID:17311302|PMID:17540308|PMID:17606709|PMID:17636407|PMID:17727479|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19127115|PMID:19468865|PMID:19556618|PMID:19881536|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22811390|PMID:22899716|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23538418|PMID:23667851|PMID:23792586|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25348012|PMID:25584008|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31775759|PMID:32000721|PMID:32019277|PMID:32566746|PMID:33309985|PMID:33397043|PMID:33818021|PMID:3471991|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8423216|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9546439|PMID:9569050|PMID:9667734
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16258005|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:25157968|PMID:25186627|PMID:25348012|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30816478|PMID:31105275|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32475984|PMID:32566746|PMID:32658383|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33818021|PMID:34299313|PMID:3471991|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31742824|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34299313|PMID:34529667|PMID:34709361|PMID:3471991|PMID:35974385|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34709361|PMID:3471991|PMID:35043155|PMID:35802772
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22114072|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25516983|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34299313|PMID:34503094
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:34529667|PMID:34709361|PMID:3471991|PMID:35043155|PMID:35802772|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:18685109|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20436704|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21665182|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22899716|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24382691|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31742824|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32658383|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34709361
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:3471991|PMID:35043155|PMID:35802772|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11101847|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11782540|PMID:11793474|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15004724|PMID:15037740|PMID:15077194|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16964264|PMID:17015838|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:18307025|PMID:18391940|PMID:18511570|PMID:19012332|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:1975675|PMID:1978757|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21113594|PMID:21118481|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21672450|PMID:21761402|PMID:22006311|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22672556|PMID:22698404|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23172776|PMID:23246812|PMID:23259501|PMID:23263379|PMID:23484829|PMID:23538418|PMID:23624782|PMID:23630318|PMID:23667851|PMID:23792586|PMID:23887774|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24381225|PMID:24487413|PMID:24501221|PMID:24573247|PMID:24594805|PMID:24641375|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:25059482|PMID:25157968|PMID:25186627|PMID:25256166|PMID:25348012|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25741868|PMID:25765855|PMID:25787918|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26467025|PMID:26580448|PMID:26585234|PMID:26619011|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27516001|PMID:27616075|PMID:27621308|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28279309|PMID:28349240|PMID:28369373|PMID:28453743|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28861920|PMID:28873162|PMID:28975465|PMID:29070607|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30607672|PMID:30709381|PMID:30816478|PMID:30840781|PMID:31016814|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31775759|PMID:31882575|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32156018|PMID:32191290|PMID:32475984|PMID:32566746|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32994724|PMID:33087929|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34503094|PMID:34529667|PMID:34709361|PMID:3471991|PMID:35043155|PMID:35802772|PMID:35974385|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:4122735|PMID:7565304|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8308926|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8550239|PMID:8633021|PMID:8649776|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9407971|PMID:9546439|PMID:9569050|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22672556|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23667851|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25186627|PMID:25256166|PMID:25326637|PMID:25348012|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28968711|PMID:28975465|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29922827|PMID:29955864|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32191290|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32475984|PMID:32566746|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:3471991|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28968711|PMID:28975465|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29922827|PMID:29955864|PMID:29956451|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32191290|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32475984|PMID:32566746|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:3471991|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:21834035|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22672556|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22869713|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23667851|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25186627|PMID:25256166|PMID:25326637|PMID:25348012|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28780976|PMID:28861920|PMID:28864397
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28873162|PMID:28968711|PMID:28975465|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29922827|PMID:29955864|PMID:29956451|PMID:29979956|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30143849|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32191290|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32475984|PMID:32566746|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:3471991|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10229196|PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10629033|PMID:10797439|PMID:10802655|PMID:10864200|PMID:10922393|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11403041|PMID:11479205|PMID:11481490|PMID:11521785|PMID:11600572|PMID:11753428|PMID:11782540|PMID:12007217|PMID:12509279|PMID:12524418|PMID:12567188|PMID:12619118|PMID:12672316|PMID:12826609|PMID:12885464|PMID:12917626|PMID:1349175|PMID:14743206|PMID:15037740|PMID:15077194|PMID:15121773|PMID:15355915|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15741269|PMID:15781620|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15958617|PMID:15977174|PMID:16007150|PMID:16033918|PMID:16199549|PMID:16206219|PMID:16258005|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16750598|PMID:16818505|PMID:1683921|PMID:16861262|PMID:16933305|PMID:16964264|PMID:16969106|PMID:17015838|PMID:17308077|PMID:17311302|PMID:17535973|PMID:17540308|PMID:17567834|PMID:17599946|PMID:17606709|PMID:17636407|PMID:17638920|PMID:17727479|PMID:17940213|PMID:18248785|PMID:18270399|PMID:18307025|PMID:18373486|PMID:18511570|PMID:18685109|PMID:18940924|PMID:18989156|PMID:19012332|PMID:19046423|PMID:19101993|PMID:19127115|PMID:19367569|PMID:19454241|PMID:19468865|PMID:19521721|PMID:19556618|PMID:19711436|PMID:19714490|PMID:19717094|PMID:1975675|PMID:1978757|PMID:19850740|PMID:19877175|PMID:19881536|PMID:1999338|PMID:20028212|PMID:20113312|PMID:20127978|PMID:20128691|PMID:20301488|PMID:20407015|PMID:20436704|PMID:20455025|PMID:2046748|PMID:20516128|PMID:20520810|PMID:20522432|PMID:20593220|PMID:20658636|PMID:20689556|PMID:20693561|PMID:20805372|PMID:21059199|PMID:21118481|PMID:21187651|PMID:21192060|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21440489|PMID:21445056|PMID:21445348|PMID:21464421|PMID:21468523|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21619694|PMID:21626334|PMID:21630152|PMID:21665182|PMID:21665242|PMID:21672450|PMID:21761402|PMID:22004116|PMID:22006311|PMID:22110706|PMID:22170717|PMID:22186996|PMID:22203015|PMID:22233476|PMID:22455664|PMID:22619358|PMID:22672556|PMID:22703879|PMID:22729912|PMID:22744426|PMID:22811390|PMID:22822097|PMID:22915647|PMID:22923379|PMID:23056559|PMID:23161690|PMID:23172776|PMID:23175693|PMID:23246812|PMID:23263379|PMID:23469205|PMID:23484829|PMID:23538418|PMID:23570263|PMID:23624782|PMID:23630318|PMID:23639312|PMID:23667851|PMID:23713777|PMID:23733769|PMID:23792586|PMID:23794094|PMID:23887774|PMID:23894400|PMID:24033266|PMID:24065105|PMID:24122735|PMID:24382691|PMID:24501221|PMID:24573247|PMID:24590827|PMID:24594805|PMID:24651012|PMID:24677579|PMID:24702488|PMID:24728327|PMID:24764719|PMID:24803582|PMID:24810334|PMID:24835218|PMID:24857548|PMID:24884479|PMID:24936644|PMID:25059482|PMID:25186627|PMID:25256166|PMID:25326637|PMID:25348012|PMID:25404506|PMID:25584008|PMID:25612911|PMID:25619955|PMID:25736369|PMID:25741868|PMID:25765855|PMID:25773284|PMID:25787918|PMID:25896519|PMID:25945745|PMID:25952993|PMID:26014290|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26332594|PMID:26425688|PMID:26452166|PMID:26467025|PMID:26572807|PMID:26580448|PMID:26585234|PMID:26681051|PMID:26681312|PMID:26681682|PMID:26718964|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26878390|PMID:26911350|PMID:27059324|PMID:27077130|PMID:27081505|PMID:27101110|PMID:27146902|PMID:27153395|PMID:27223487|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27374712|PMID:27463065|PMID:27501770|PMID:27516001|PMID:27601191|PMID:27621308|PMID:27622479|PMID:27663983|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28349240|PMID:28369373|PMID:28387921|PMID:28453743|PMID:28453760|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28664506|PMID:28724667|PMID:28756477|PMID:28780976|PMID:28861920|PMID:28864397|PMID:28873162|PMID:28968711
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:28975465|PMID:28984303|PMID:29070607|PMID:29300620|PMID:29324801|PMID:29392648|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29581140|PMID:29753700|PMID:29770616|PMID:29922827|PMID:29955864|PMID:29956451|PMID:29979956|PMID:29979965|PMID:30042151|PMID:30076369|PMID:30092803|PMID:30107858|PMID:30147334|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30352134|PMID:30596752|PMID:30607672|PMID:30630526|PMID:30709381|PMID:30816478|PMID:30840781|PMID:30851333|PMID:30982232|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31278746|PMID:31321604|PMID:31472337|PMID:31494577|PMID:31742824|PMID:31744167|PMID:31748977|PMID:31775759|PMID:31845386|PMID:31882575|PMID:31978118|PMID:31983162|PMID:32000721|PMID:32019277|PMID:32039725|PMID:32156018|PMID:32191290|PMID:32292755|PMID:32322420|PMID:32427313|PMID:32475984|PMID:32566746|PMID:32592449|PMID:32658383|PMID:32671623|PMID:32817165|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33163847|PMID:33245408|PMID:33257846|PMID:33258288|PMID:33300245|PMID:33309985|PMID:33372952|PMID:33397043|PMID:33407742|PMID:33471991|PMID:33603772|PMID:33637564|PMID:33818021|PMID:33840814|PMID:34088725|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34503094|PMID:34529667|PMID:34540492|PMID:34670578|PMID:34709361|PMID:3471991|PMID:34754157|PMID:34885220|PMID:35043155|PMID:35367578|PMID:35802772|PMID:35974385|PMID:36003761|PMID:36008825|PMID:36309086|PMID:36329109|PMID:36988593|PMID:37179382|PMID:37653074|PMID:39060302|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8242752|PMID:8401536|PMID:8402598|PMID:8423216|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8718514|PMID:8825920|PMID:8829627|PMID:9047394|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9399838|PMID:9546439|PMID:9572492|PMID:9582268|PMID:9607760|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9704931|PMID:9891044
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10486318|PMID:10519380|PMID:10554037|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11040944|PMID:11370630|PMID:11391594|PMID:11406645|PMID:11479205|PMID:11782540|PMID:12124823|PMID:12509279|PMID:12759240|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15077194|PMID:15173255|PMID:15342977|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16007150|PMID:16288208|PMID:16401470|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16818505|PMID:16861262|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17417775|PMID:17576681|PMID:17606709|PMID:17727479|PMID:18511570|PMID:18685109|PMID:18772396|PMID:18772890|PMID:18818522|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19714488|PMID:19834951|PMID:19850740|PMID:20010306|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21225465|PMID:21232794|PMID:21343334|PMID:21383700|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21637529|PMID:21761402|PMID:22186996|PMID:22203015|PMID:22652532|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23713777|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24120142|PMID:24122735|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24835218|PMID:24868540|PMID:25219808|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26786923|PMID:26911350|PMID:26919320|PMID:27059324|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28279309|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29118384|PMID:29247016|PMID:29300620|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29802247|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30816478|PMID:30883245|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31159747|PMID:31278746|PMID:31300551|PMID:31472337|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:32000721|PMID:32156018|PMID:32322420|PMID:32393201|PMID:32475984|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32888145|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33753552|PMID:33840814|PMID:33850299|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34796414|PMID:34863587|PMID:34906512|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35974385|PMID:36980780|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:8718514|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9536098|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10486318|PMID:10519380|PMID:10554037|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11040944|PMID:11370630|PMID:11391594|PMID:11406645|PMID:11479205|PMID:11782540|PMID:12124823|PMID:12509279|PMID:12759240|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15077194|PMID:15173255|PMID:15342977|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:16007150|PMID:16288208|PMID:16401470|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16818505|PMID:16861262|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17417775|PMID:17576681|PMID:17606709|PMID:17727479|PMID:18511570|PMID:18685109|PMID:18772396|PMID:18772890|PMID:18818522|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19714488|PMID:19834951|PMID:19850740|PMID:20010306|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21225465|PMID:21232794|PMID:21343334|PMID:21383700|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21626334|PMID:21637529|PMID:21761402|PMID:22186996|PMID:22203015|PMID:22652532|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23713777|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24120142|PMID:24122735|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24677579|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24835218|PMID:24868540|PMID:25219808|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26786923|PMID:26911350|PMID:26919320|PMID:27059324|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28125078|PMID:28279309|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29118384|PMID:29247016|PMID:29300620|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29802247|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30374176|PMID:30607672|PMID:30630526|PMID:30816478|PMID:30883245|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31159747|PMID:31278746|PMID:31300551|PMID:31472337|PMID:31719099|PMID:31749828|PMID:31775759|PMID:31786208|PMID:31845386|PMID:32000721|PMID:32156018|PMID:32322420|PMID:32393201|PMID:32475984|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32888145|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33753552|PMID:33840814|PMID:33850299|PMID:34166060|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34796414|PMID:34863587|PMID:34906512|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35974385|PMID:36980780|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:9218725|PMID:9242456|PMID:9364015|PMID:9536098|PMID:9572492|PMID:9667734|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10432928|PMID:10486318|PMID:10519380|PMID:10554037|PMID:10589545|PMID:10761705|PMID:10797439|PMID:10864200|PMID:10914716|PMID:10922393|PMID:11040944|PMID:11139324|PMID:11180592|PMID:11370630|PMID:11391594|PMID:11406645|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12019170|PMID:12124823|PMID:12509279|PMID:12759240|PMID:12826609|PMID:12885464|PMID:12917626|PMID:15037740|PMID:15077194|PMID:15173255|PMID:15342977|PMID:15381368|PMID:15580553|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15781620|PMID:15825182|PMID:1591732|PMID:15925506|PMID:15951970|PMID:15977174|PMID:16007150|PMID:16199547|PMID:16288208|PMID:16322298|PMID:16401470|PMID:16489069|PMID:16494995|PMID:16534790|PMID:16551709|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17015838|PMID:17224268|PMID:17289876|PMID:17311302|PMID:17417775|PMID:17576681|PMID:17606709|PMID:17727479|PMID:18307025|PMID:18511570|PMID:18685109|PMID:18772396|PMID:18772890|PMID:18818522|PMID:18989156|PMID:19101993|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19714488|PMID:19834951|PMID:19850740|PMID:20010306|PMID:20028212|PMID:20113312|PMID:20128691|PMID:20212049|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20593220|PMID:20658636|PMID:20693561|PMID:20805372|PMID:20932800|PMID:20967502|PMID:21056402|PMID:21118481|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21232794|PMID:21305319|PMID:21343334|PMID:21356188|PMID:21383700|PMID:21445056|PMID:21512767|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21761402|PMID:21971842|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22652532|PMID:22653678|PMID:22661320|PMID:22710932|PMID:22713868|PMID:22810696|PMID:22820256|PMID:22822097|PMID:22832583|PMID:22887876|PMID:22915647|PMID:22923379|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23484829|PMID:23538418|PMID:23580068|PMID:23630318|PMID:23713777|PMID:23894400|PMID:23965232|PMID:24033266|PMID:24065105|PMID:24076587|PMID:24078161|PMID:24120142|PMID:24122735|PMID:24140581|PMID:24332040|PMID:24382691|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24573247|PMID:24677579|PMID:24702488|PMID:24705251|PMID:24728327|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24835218|PMID:24868540|PMID:24952746|PMID:25219808|PMID:25256166|PMID:25404506|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25527155|PMID:25584008|PMID:25612911|PMID:25637381|PMID:25741868|PMID:25765855|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26061751|PMID:26086041|PMID:26138366|PMID:26205489|PMID:26225655|PMID:26230955|PMID:26257827|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26786923|PMID:26822237|PMID:26845104|PMID:26911350|PMID:26919320|PMID:27022024|PMID:27050224|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27619989|PMID:27621308|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27714481|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28125078|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28772286|PMID:28780976|PMID:28861920|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29118384|PMID:29247016|PMID:29300620|PMID:2932480|PMID:29324801|PMID:29470806|PMID:29478780|PMID:29489754|PMID:29522266|PMID:29575851|PMID:29753700|PMID:29793804|PMID:29802247|PMID:29933636|PMID:29945567|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30212483|PMID:30224644|PMID:30287823|PMID:30326163|PMID:30327374|PMID:30374176|PMID:30588330|PMID:30607672|PMID:30630526|PMID:30816478|PMID:30840781|PMID:30883245|PMID:31016814|PMID:31081129|PMID:31089155|PMID:31105275|PMID:31159747|PMID:31278746|PMID:31300551|PMID:31395785|PMID:31472337|PMID:31477716|PMID:31533767|PMID:31567591|PMID:31719099|PMID:31749828|PMID:31775759
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: GALNT12-related condition | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:31786208|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32156018|PMID:32322420|PMID:32393201|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32832836|PMID:32888145|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33163847|PMID:33245408|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33692446|PMID:33753552|PMID:33772213|PMID:33840814|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34240179|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34529667|PMID:34670578|PMID:34676052|PMID:34709361|PMID:34754157|PMID:34796414|PMID:34863587|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35802772|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36980780|PMID:36988593|PMID:37030635|PMID:37185778|PMID:38702830|PMID:39520074|PMID:40543052|PMID:4122735|PMID:7565304|PMID:7651740|PMID:7732013|PMID:7783166|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8198984|PMID:8203469|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8550239|PMID:8633021|PMID:9218725|PMID:9242456|PMID:9290701|PMID:9364015|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9627118|PMID:9662334|PMID:9667734|PMID:9704930|PMID:9865903
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10411893|PMID:10486318|PMID:10554037|PMID:10761705|PMID:10797439|PMID:10914716|PMID:11139324|PMID:11180592|PMID:11406645|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12124823|PMID:12509279|PMID:12759240|PMID:12826609|PMID:15077194|PMID:15342977|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15825182|PMID:16007150|PMID:16288208|PMID:16401470|PMID:16489069|PMID:16534790|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18818522|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19834951|PMID:19850740|PMID:20010306|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20658636|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21056402|PMID:21163964|PMID:21187651|PMID:21225465|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21626334|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22203015|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:23894400|PMID:24033266|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24803582|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25219808|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26014290|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26425688|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26681312|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27059324|PMID:27121876|PMID:27146902|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27493922|PMID:27501770|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28472496|PMID:28492532|PMID:28503720|PMID:28573494|PMID:28581676|PMID:28664506|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29118384|PMID:29300620|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30607672|PMID:30630526|PMID:30816478|PMID:31081129|PMID:31089155|PMID:31278746|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32393201|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:32994724|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33753552|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8134126|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9667734|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer	no_association	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.P72R (human)	PMID:29286614|REF_RGD_ID:14995500
12119451	TP53	tumor protein p53	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:3889	D	RGD:9068941	20200609	RGD			PMID:29546074|REF_RGD_ID:14995449
12119451	TP53	tumor protein p53	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:70502	D	RGD:7240710	20251112	OMIM			
12119451	TP53	tumor protein p53	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nasopharyngeal carcinoma	PMID:10411893|PMID:10761705|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:11920959|PMID:12826609|PMID:15381368|PMID:1565143|PMID:1565144|PMID:15722483|PMID:16007150|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17576681|PMID:17606709|PMID:18511570|PMID:18685109|PMID:18989156|PMID:19225112|PMID:19367569|PMID:19556618|PMID:19850740|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20516128|PMID:20522432|PMID:20586629|PMID:20693561|PMID:20932800|PMID:20967502|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21383700|PMID:21445056|PMID:21519010|PMID:21522129|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21637529|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22887876|PMID:22915647|PMID:23031740|PMID:23161690|PMID:23246812|PMID:23259501|PMID:23538418|PMID:23580068|PMID:23713777|PMID:24076587|PMID:24078161|PMID:24332040|PMID:24436047|PMID:24448499|PMID:24501221|PMID:24677579|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25428789|PMID:25452441|PMID:25503501|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25768946|PMID:25896519|PMID:25952993|PMID:26138366|PMID:26205489|PMID:26230955|PMID:26467025|PMID:26572807|PMID:26585234|PMID:26822237|PMID:26845104|PMID:26911350|PMID:27050224|PMID:27121876|PMID:27153395|PMID:27189670|PMID:27276561|PMID:27311873|PMID:27325016|PMID:27328919|PMID:27463065|PMID:27622479|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28279309|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28724667|PMID:28726821|PMID:28780976|PMID:28873162|PMID:28966033|PMID:28975465|PMID:29070607|PMID:29478780|PMID:29489754|PMID:29575851|PMID:29753700|PMID:29933636|PMID:29955864|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30630526|PMID:30816478|PMID:31089155|PMID:31395785|PMID:31472337|PMID:31533767|PMID:31775759|PMID:31802000|PMID:31845386|PMID:31881331|PMID:32000721|PMID:32322420|PMID:32475984|PMID:32601913|PMID:32658383|PMID:32675277|PMID:32784519|PMID:32817165|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33120919|PMID:33300245|PMID:33433639|PMID:33471991|PMID:33850299|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34249098|PMID:34299313|PMID:34308366|PMID:34452612|PMID:34754157|PMID:34796414|PMID:34906512|PMID:35033608|PMID:35101336|PMID:35705558|PMID:35705560|PMID:35974385|PMID:36168441|PMID:36457625|PMID:36988593|PMID:37030635|PMID:38702830|PMID:39520074|PMID:40543052|PMID:7651740|PMID:7732013|PMID:7796267|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8401536|PMID:8425176|PMID:8479749|PMID:8633021|PMID:9242456|PMID:9290701|PMID:9536098|PMID:9546439|PMID:9572492|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9538	multiple myeloma		ISO	RGD:70502	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Multiple myeloma | ClinVar Annotator: match by term: Plasma cell myeloma	PMID:10411893|PMID:10797439|PMID:10864200|PMID:11139324|PMID:11180592|PMID:11315715|PMID:11479205|PMID:11494139|PMID:11782540|PMID:11793474|PMID:11904319|PMID:12672316|PMID:12826609|PMID:14743206|PMID:15381368|PMID:15390294|PMID:15607980|PMID:15607981|PMID:1565143|PMID:1565144|PMID:15722483|PMID:15951970|PMID:1631137|PMID:16401470|PMID:16489069|PMID:16682957|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17540308|PMID:17606709|PMID:17636407|PMID:18511570|PMID:18685109|PMID:19367569|PMID:19454241|PMID:19556618|PMID:1978757|PMID:20113312|PMID:20128691|PMID:20407015|PMID:2046748|PMID:20516128|PMID:20522432|PMID:20693561|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21484931|PMID:21519010|PMID:21535297|PMID:21552135|PMID:21601526|PMID:21761402|PMID:21834035|PMID:22110706|PMID:22186996|PMID:22666503|PMID:22811390|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:23612969|PMID:24501221|PMID:24677579|PMID:24810334|PMID:25584008|PMID:25612911|PMID:25741868|PMID:25787918|PMID:25952993|PMID:26014290|PMID:26230955|PMID:26332594|PMID:26467025|PMID:26585234|PMID:26681312|PMID:26822237|PMID:26845104|PMID:27276561|PMID:27374712|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28152038|PMID:28154273|PMID:28369373|PMID:28453743|PMID:28492532|PMID:28573494|PMID:28873162|PMID:29324801|PMID:29478780|PMID:29489754|PMID:29979965|PMID:30076369|PMID:30093976|PMID:30143849|PMID:30224644|PMID:30287823|PMID:30327374|PMID:30816478|PMID:31105275|PMID:31212162|PMID:31775759|PMID:31882575|PMID:32000721|PMID:32817165|PMID:32906206|PMID:33245408|PMID:33300245|PMID:33372952|PMID:33471991|PMID:34906214|PMID:35273153|PMID:36988593|PMID:7732013|PMID:7887414|PMID:7969167|PMID:8001119|PMID:8023157|PMID:8062826|PMID:8118819|PMID:8164043|PMID:8423216|PMID:8479749|PMID:8718514|PMID:9047394|PMID:9242456|PMID:9399838|PMID:9482117|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9538	multiple myeloma		ISO	RGD:70502	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	PMID:10411893|PMID:10797439|PMID:11139324|PMID:11180592|PMID:11479205|PMID:11782540|PMID:12826609|PMID:15381368|PMID:1565143|PMID:15722483|PMID:16489069|PMID:16682957|PMID:16778209|PMID:16818505|PMID:1683921|PMID:16861262|PMID:17606709|PMID:18511570|PMID:19367569|PMID:19556618|PMID:20113312|PMID:20128691|PMID:20407015|PMID:20522432|PMID:21163964|PMID:21187651|PMID:21305319|PMID:21343334|PMID:21445056|PMID:21519010|PMID:21552135|PMID:21601526|PMID:21761402|PMID:22110706|PMID:22186996|PMID:22661320|PMID:22810696|PMID:22820256|PMID:22832583|PMID:22915647|PMID:23161690|PMID:23246812|PMID:23538418|PMID:24078161|PMID:24501221|PMID:24705251|PMID:24810334|PMID:24814347|PMID:24952746|PMID:25612911|PMID:25741868|PMID:25952993|PMID:26230955|PMID:26467025|PMID:26585234|PMID:26822237|PMID:26845104|PMID:27121876|PMID:27276561|PMID:27325016|PMID:27463065|PMID:27680515|PMID:27683180|PMID:27895058|PMID:27959731|PMID:27993330|PMID:28098136|PMID:28154273|PMID:28197804|PMID:28369373|PMID:28492532|PMID:28573494|PMID:28581676|PMID:28726821|PMID:29478780|PMID:29489754|PMID:29933636|PMID:29979965|PMID:30076369|PMID:30224644|PMID:30287823|PMID:30327374|PMID:31395785|PMID:31802000|PMID:32000721|PMID:32601913|PMID:32906206|PMID:33300245|PMID:33471991|PMID:33924934|PMID:34166060|PMID:34185076|PMID:34234122|PMID:34796414|PMID:34906512|PMID:35101336|PMID:35974385|PMID:36457625|PMID:36988593|PMID:7887414|PMID:8023157|PMID:8062826|PMID:8118819|PMID:9242456|PMID:9546439|PMID:9704930
12119451	TP53	tumor protein p53	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.R72P(human)	PMID:24611901|REF_RGD_ID:11073716
12119451	TP53	tumor protein p53	gene	DOID:9538	multiple myeloma	disease_progression	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus:	PMID:22261445|REF_RGD_ID:11073728
12119451	TP53	tumor protein p53	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:70502	D	RGD:9068941	20200609	RGD		DNA:deletion: :	PMID:12745272|REF_RGD_ID:11075073
12119451	TP53	tumor protein p53	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:70502	D	RGD:9068941	20200609	RGD		protein:increased expression:oral mucosa:	PMID:23776093|REF_RGD_ID:8547855
12119451	TP53	tumor protein p53	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:70502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334668
12119451	Tp53	tumor protein p53	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:3889	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue:	PMID:12167434|REF_RGD_ID:8547871
12119451	Trp53	transformation related protein 53	gene	DOID:299	adenocarcinoma		ISO	RGD:11440	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:16247444|PMID:7955072
12119451	Trp53	transformation related protein 53	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:11440	D	RGD:9068941	20260813	RGD			PMID:16778087|REF_RGD_ID:8547873
12119475	QRICH2	glutamine rich 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:7240710	20190315	OMIM			
12119475	QRICH2	glutamine rich 2	gene	DOID:0111914	spermatogenic failure 35		ISO	RGD:1604772	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: QRICH2-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 35 | ClinVar Annotator: match by term: Spermatogenic failure 35 | ClinVar Annotator: match by term: spermatogenic failure 35	PMID:25741868
12119475	QRICH2	glutamine rich 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119475	QRICH2	glutamine rich 2	gene	DOID:1115	sarcoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:1324	lung cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119475	QRICH2	glutamine rich 2	gene	DOID:1909	melanoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:3275	thymoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119475	QRICH2	glutamine rich 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12119475	QRICH2	glutamine rich 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119475	QRICH2	glutamine rich 2	gene	DOID:9001513	Asthenozoospermia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: asthenoteratozoospermia	PMID:30683861|PMID:31110204|PMID:31292949
12119475	QRICH2	glutamine rich 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12119475	QRICH2	glutamine rich 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119475	QRICH2	glutamine rich 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12119475	QRICH2	glutamine rich 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		protein:increased expression:mononuclear cell (human)	PMID:16620968|REF_RGD_ID:11535021
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:0050902	medulloblastoma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow, blood (human)	PMID:24763007|REF_RGD_ID:11535028
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:0060318	acute promyelocytic leukemia	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow (human)	PMID:18815192|REF_RGD_ID:11535037
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1349908	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:17157168
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:1115	sarcoma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:1240	leukemia		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:1612	breast cancer		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:17624586|REF_RGD_ID:11535056
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:1909	melanoma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:1909	melanoma		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin of body (human)	PMID:27505074|PMID:9047241|REF_RGD_ID:11535038|REF_RGD_ID:11535062
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:3347	osteosarcoma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:muscle tissue (human)	PMID:22390931|REF_RGD_ID:11535057
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:3713	ovary adenocarcinoma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:female gonad (human)	PMID:18709641|REF_RGD_ID:11535054
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:27241212|REF_RGD_ID:11535020
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:6039	uveal melanoma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uvea (human)	PMID:27486988|REF_RGD_ID:11535039
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:769	neuroblastoma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:neural tissue (human)	PMID:15240516|REF_RGD_ID:11535044
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell (human)	PMID:20838376|REF_RGD_ID:11535035
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:8567	Hodgkin's lymphoma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymphoid tissue (human)	PMID:26044287|REF_RGD_ID:11060455
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:8692	myeloid leukemia	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:16103086|REF_RGD_ID:11535036
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		associated with Down Syndrome;mRNA:increased expression:mononuclear cell (human)	PMID:15180862|REF_RGD_ID:11535064
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		protein:increased expression:mononuclear cell (human)	PMID:16620968|REF_RGD_ID:11535021
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow, mononuclear cell (human)	PMID:20376794|REF_RGD_ID:11535023
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9538	multiple myeloma		ISO	RGD:1349908	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16179254
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9538	multiple myeloma	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		associated with bortezomib treatment;mRNA:increased expression:bone marrow (human)	PMID:24791872|REF_RGD_ID:11535030
12119495	PRAME	PRAME nuclear receptor transcriptional regulator	gene	DOID:9952	acute lymphoblastic leukemia	severity	ISO	RGD:1349908	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood (human)	PMID:27275197|REF_RGD_ID:11535025
12119514	FAM98B	family with sequence similarity 98 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119514	FAM98B	family with sequence similarity 98 member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119514	FAM98B	family with sequence similarity 98 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119514	FAM98B	family with sequence similarity 98 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119525	MYO1E	myosin IE	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119525	MYO1E	myosin IE	gene	DOID:0080600	COVID-19		ISO	RGD:1350355	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12119525	MYO1E	myosin IE	gene	DOID:0111131	focal segmental glomerulosclerosis 6		ISO	RGD:1350355	D	RGD:7240710	20180130	OMIM			
12119525	MYO1E	myosin IE	gene	DOID:0111131	focal segmental glomerulosclerosis 6		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 6 | ClinVar Annotator: match by term: MYO1E-related condition	PMID:21756023|PMID:25741868|PMID:28492532|PMID:33532864
12119525	MYO1E	myosin IE	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:21756023|PMID:23349334|PMID:24033266|PMID:25741868|PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:10534	stomach cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119525	MYO1E	myosin IE	gene	DOID:10908	hydrocephalus		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:10952	nephritis		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephritis	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119525	MYO1E	myosin IE	gene	DOID:1115	sarcoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119525	MYO1E	myosin IE	gene	DOID:11476	osteoporosis		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1350355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:29127259
12119525	MYO1E	myosin IE	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1350355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12119525	MYO1E	myosin IE	gene	DOID:1596	depressive disorder		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:2030	anxiety disorder		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:2841	asthma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:3275	thymoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119525	MYO1E	myosin IE	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12119525	MYO1E	myosin IE	gene	DOID:4362	cervical cancer		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119525	MYO1E	myosin IE	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12119525	MYO1E	myosin IE	gene	DOID:5041	esophageal cancer		ISO	RGD:1350355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119525	MYO1E	myosin IE	gene	DOID:5419	schizophrenia		ISO	RGD:1350355	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12119525	MYO1E	myosin IE	gene	DOID:557	kidney disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:21756023|PMID:23349334|PMID:24033266|PMID:25741868|PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119525	MYO1E	myosin IE	gene	DOID:576	proteinuria		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119525	MYO1E	myosin IE	gene	DOID:630	genetic disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:784	chronic kidney disease		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:9003133	Hypertelorism		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119525	MYO1E	myosin IE	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119525	MYO1E	myosin IE	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119525	MYO1E	myosin IE	gene	DOID:9351	diabetes mellitus		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:987	alopecia		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:28492532
12119525	MYO1E	myosin IE	gene	DOID:9970	obesity		ISO	RGD:1350355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:3070	high grade glioma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119575	ECD	ecdysoneless cell cycle regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1604642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12119593	TG	thyroglobulin	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:735819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:10404833|PMID:11484898|PMID:14764776|PMID:15611820|PMID:15769978|PMID:16403815|PMID:16720658|PMID:17532758|PMID:19438905|PMID:19509106|PMID:19837936|PMID:20410234|PMID:21128992|PMID:21372558|PMID:23035660|PMID:23164529|PMID:23457313|PMID:25741868|PMID:2584351|PMID:27525530|PMID:28444304|PMID:28492532|PMID:31430255|PMID:32553838|PMID:33692749|PMID:34248839|PMID:36884306|PMID:7593451|PMID:8325944|PMID:9588493
12119593	TG	thyroglobulin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119593	TG	thyroglobulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119593	TG	thyroglobulin	gene	DOID:0060870	isolated growth hormone deficiency		ISO	RGD:3848	D	RGD:9068941	20200609	RGD			PMID:11089535|PMID:3366187|REF_RGD_ID:12880373|REF_RGD_ID:730133
12119593	TG	thyroglobulin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	sexual_dimorphism	ISO	RGD:735819	D	RGD:9068941	20240229	RGD			PMID:30016121|REF_RGD_ID:401976499
12119593	TG	thyroglobulin	gene	DOID:0112187	thyroid dyshormonogenesis 3		ISO	RGD:735819	D	RGD:7240710	20260805	OMIM			
12119593	TG	thyroglobulin	gene	DOID:0112187	thyroid dyshormonogenesis 3		ISO	RGD:735819	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, CONGENITAL, DUE TO DYSHORMONOGENESIS, 3 | ClinVar Annotator: match by term: TG-related condition | ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 3 | ClinVar Annotator: match by term: THYROID HORMONOGENESIS, GENETIC DEFECT IN, 3 | ClinVar Annotator: match by term: Thyroid dyshormonogenesis 3	PMID:10403171|PMID:10404833|PMID:11484898|PMID:14764776|PMID:15769978|PMID:16199547|PMID:16720658|PMID:19438905|PMID:19837936|PMID:20410234|PMID:20447071|PMID:21128992|PMID:21372558|PMID:23035660|PMID:23164529|PMID:23535966|PMID:23933148|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26385851|PMID:26777470|PMID:28444304|PMID:28492532|PMID:29275168|PMID:29590070|PMID:30022773|PMID:31287502|PMID:32425884|PMID:33692749|PMID:34248839|PMID:34484748|PMID:34780050|PMID:36012511|PMID:39006921|PMID:8325944|PMID:9588493
12119593	TG	thyroglobulin	gene	DOID:10283	prostate cancer		ISO	RGD:735819	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12119593	TG	thyroglobulin	gene	DOID:10283	prostate cancer		ISO	RGD:735819	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12119593	TG	thyroglobulin	gene	DOID:1059	intellectual disability		ISO	RGD:735819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10403171|PMID:19438905|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29590070|PMID:34248839|PMID:34484748|PMID:34780050
12119593	TG	thyroglobulin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119593	TG	thyroglobulin	gene	DOID:1115	sarcoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119593	TG	thyroglobulin	gene	DOID:12176	goiter		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24582622|PMID:8094490
12119593	TG	thyroglobulin	gene	DOID:12176	goiter	susceptibility	ISO	RGD:735819	D	RGD:9068941	20200609	RGD		associated with Hypothyroidism;DNA:deletion:exon	PMID:1752952|REF_RGD_ID:1600141
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease		ISO	RGD:735819	D	RGD:9068941	20200609	RGD			PMID:14636875|REF_RGD_ID:8548606
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease		ISO	RGD:735819	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron:rs2256366, rs2687836 (human)	PMID:22662162|REF_RGD_ID:8548643
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease		ISO	RGD:735819	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:95586|REF_RGD_ID:8548645
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease		ISO	RGD:735819	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:735819	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:multiple	PMID:18656705|REF_RGD_ID:8548630
12119593	TG	thyroglobulin	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:735819	D	RGD:9068941	20200609	RGD		DNA:SNP:exon	PMID:17550957|REF_RGD_ID:8548644
12119593	TG	thyroglobulin	gene	DOID:1324	lung cancer		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119593	TG	thyroglobulin	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:735819	D	RGD:9068941	20240229	RGD			PMID:6883738|REF_RGD_ID:401976502
12119593	TG	thyroglobulin	gene	DOID:1459	hypothyroidism		ISO	RGD:735819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:10403171|PMID:11484898|PMID:14764776|PMID:19438905|PMID:19837936|PMID:23164529|PMID:24033266|PMID:25741868|PMID:2584351|PMID:28444304|PMID:28492532|PMID:29590070|PMID:33692749|PMID:34248839|PMID:34484748|PMID:34780050|PMID:8325944|PMID:9588493
12119593	TG	thyroglobulin	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:3848	D	RGD:9068941	20211001	RGD			PMID:16365524|REF_RGD_ID:150429798
12119593	TG	thyroglobulin	gene	DOID:1596	depressive disorder		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30373627
12119593	TG	thyroglobulin	gene	DOID:2030	anxiety disorder		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30373627
12119593	TG	thyroglobulin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119593	TG	thyroglobulin	gene	DOID:2394	ovarian cancer		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:25741868|PMID:27525530|PMID:28414800|PMID:36913313|PMID:36964972
12119593	TG	thyroglobulin	gene	DOID:417	autoimmune disease		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869686
12119593	TG	thyroglobulin	gene	DOID:4362	cervical cancer		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119593	TG	thyroglobulin	gene	DOID:50	thyroid gland disease		ISO	RGD:735819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal circulating thyroid hormone concentration	PMID:11484898|PMID:14764776|PMID:19837936|PMID:23164529|PMID:25741868|PMID:2584351|PMID:28444304|PMID:28492532|PMID:33692749|PMID:34248839|PMID:8325944|PMID:9588493
12119593	TG	thyroglobulin	gene	DOID:5041	esophageal cancer		ISO	RGD:735819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119593	TG	thyroglobulin	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:735819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary Ovarian Insufficiency	PMID:28492532|PMID:31042289
12119593	TG	thyroglobulin	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:735819	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:27525530|PMID:28414800|PMID:36913313|PMID:36964972
12119593	TG	thyroglobulin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12119593	TG	thyroglobulin	gene	DOID:630	genetic disease		ISO	RGD:735819	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33653783|PMID:37390946
12119593	TG	thyroglobulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119593	TG	thyroglobulin	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:735819	D	RGD:7240710	20260805	OMIM			
12119593	TG	thyroglobulin	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:735819	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Autoimmune thyroid disease, susceptibility to, 3 | ClinVar Annotator: match by term: TG-Related Disorders	PMID:10403171|PMID:10404833|PMID:11484898|PMID:12915634|PMID:14764776|PMID:15769978|PMID:16187918|PMID:16199547|PMID:16720658|PMID:17244789|PMID:19438905|PMID:19837936|PMID:20089614|PMID:20410234|PMID:20447071|PMID:21128992|PMID:21372558|PMID:22784463|PMID:23035660|PMID:23164529|PMID:23455760|PMID:24033266|PMID:25741868|PMID:2584351|PMID:26813946|PMID:27305979|PMID:27525530|PMID:28444304|PMID:28492532|PMID:28620499|PMID:28942902|PMID:29590070|PMID:29720101|PMID:30022773|PMID:30240412|PMID:31867598|PMID:31980526|PMID:32428920|PMID:33692749|PMID:34200080|PMID:34248839|PMID:34484748|PMID:34780050|PMID:36913313|PMID:8325944|PMID:9588493
12119593	TG	thyroglobulin	gene	DOID:9004454	Multinodular Goiter 1		ISO	RGD:735819	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Euthyroid goiter	PMID:10403171|PMID:19438905|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29590070|PMID:34248839|PMID:34484748|PMID:34780050
12119593	TG	thyroglobulin	gene	DOID:9005809	Thyroid Nodule	treatment	ISO	RGD:735819	D	RGD:9068941	20240229	RGD			PMID:15704609|REF_RGD_ID:401976497
12119593	TG	thyroglobulin	gene	DOID:9006205	Animal Disease Models		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30373627
12119593	TG	thyroglobulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735819	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28444304|PMID:28492532|PMID:39040671
12119593	TG	thyroglobulin	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:3848	D	RGD:9068941	20200609	RGD			PMID:3052944|REF_RGD_ID:8548647
12119593	TG	thyroglobulin	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30373627
12119593	TG	thyroglobulin	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:735819	D	RGD:9068941	20200609	RGD			PMID:14636875|PMID:21559421|REF_RGD_ID:8548606|REF_RGD_ID:8548607
12119593	TG	thyroglobulin	gene	DOID:9007355	Hashimoto Disease	no_association	ISO	RGD:735819	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:multiple	PMID:18656705|REF_RGD_ID:8548630
12119593	TG	thyroglobulin	gene	DOID:9007661	Dwarfism		ISO	RGD:3848	D	RGD:9068941	20201211	RGD			PMID:10760744|REF_RGD_ID:13605608
12119593	TG	thyroglobulin	gene	DOID:9007661	Dwarfism		ISO	RGD:735819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24582622
12119593	TG	thyroglobulin	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:3848	D	RGD:9068941	20211001	RGD			PMID:16365524|REF_RGD_ID:150429798
12119593	TG	thyroglobulin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119593	TG	thyroglobulin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603693	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119649	DPY19L1	dpy-19 like C-mannosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603693	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050453	lissencephaly		ISO	RGD:1601994	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, missense mutations, deletion:exon, intron:multiple	PMID:17559086|REF_RGD_ID:11065022
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:25741868|PMID:26467025|PMID:28492532
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:27391550|PMID:27493216|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:30937090|PMID:30961548|PMID:31066047|PMID:32404165|PMID:33175337|PMID:33200426|PMID:34324503|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:21983716|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28765568|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11709191|PMID:12588800|PMID:12788071|PMID:12849864|PMID:15236414|PMID:15466003|PMID:16199547|PMID:16427280|PMID:17030669|PMID:17154333|PMID:17559086|PMID:17576681|PMID:17878207|PMID:17881266|PMID:17906881|PMID:18195152|PMID:18330676|PMID:18691338|PMID:19067344|PMID:19299310|PMID:19679478|PMID:20215985|PMID:20816175|PMID:20981092|PMID:21228398|PMID:21361872|PMID:21447391|PMID:21727005|PMID:22323514|PMID:22522420|PMID:22554691|PMID:22995991|PMID:23326386|PMID:23453855|PMID:23689641|PMID:24033266|PMID:24123366|PMID:24282183|PMID:24731844|PMID:24733390|PMID:25326635|PMID:25333069|PMID:25390965|PMID:25525159|PMID:25741868|PMID:26013959|PMID:26467025|PMID:26908613|PMID:26938784|PMID:26990548|PMID:27391550|PMID:27493216|PMID:27604308|PMID:27884173|PMID:28424332|PMID:28492532|PMID:28688748|PMID:28832562|PMID:29302074|PMID:29555514|PMID:30937090|PMID:30961548|PMID:31066047|PMID:31230720|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32404165|PMID:33144682|PMID:33175337|PMID:33200426|PMID:34324503|PMID:34426522|PMID:35846108|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:16199547|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:34324503|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Muscle-eye-brain disease	PMID:12588800|PMID:17576681|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:28765568|PMID:33176815|PMID:34324503|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1553166	D	RGD:9068941	20220825	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0061103	retinitis pigmentosa 76		ISO	RGD:1601994	D	RGD:7240710	20190315	OMIM			
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0061103	retinitis pigmentosa 76		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 76	PMID:25741868
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:1601994	D	RGD:7240710	20180130	OMIM			
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O		ISO	RGD:1601994	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2O | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT1-RELATED	PMID:12849864|PMID:15466003|PMID:16199547|PMID:17030669|PMID:17559086|PMID:17576681|PMID:17878207|PMID:19299310|PMID:20816175|PMID:21361872|PMID:21447391|PMID:22323514|PMID:24282183|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:28688748|PMID:30961548|PMID:34324503|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1601994	D	RGD:7240710	20190703	OMIM			
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0111236	congenital muscular dystrophy-dystroglycanopathy type A3		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3	PMID:16199547|PMID:19299310|PMID:20816175|PMID:21447391|PMID:25741868|PMID:26467025|PMID:26908613|PMID:27391550|PMID:28492532|PMID:35568357
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:25741868|PMID:31690835
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112378	muscular dystrophy-dystroglycanopathy type B3		ISO	RGD:1601994	D	RGD:7240710	20180130	OMIM			
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:0112378	muscular dystrophy-dystroglycanopathy type B3		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9536098
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1601994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:630	genetic disease		ISO	RGD:1601994	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:8501	fundus dystrophy		ISO	RGD:1601994	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1601994	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9007402	Gliosis		ISO	RGD:1553166	D	RGD:9068941	20200609	RGD			PMID:21970971|REF_RGD_ID:11532765
12119676	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	gene	DOID:9884	muscular dystrophy		ISO	RGD:1601994	D	RGD:9068941	20200609	RGD		DNA:missense mutations, nonsense mutation, snp:exons, intron:multiple (human)	PMID:17030669|REF_RGD_ID:1599152
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:1324	lung cancer		ISO	RGD:732561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:3275	thymoma		ISO	RGD:732561	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:5723	optic atrophy		ISO	RGD:732561	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:732561	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:31345219
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119702	NAALADL1	N-acetylated alpha-linked acidic dipeptidase like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:1115	sarcoma		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:1909	melanoma		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:3275	thymoma		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:4362	cervical cancer		ISO	RGD:736143	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:5041	esophageal cancer		ISO	RGD:736143	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119726	ARHGEF7	Rho guanine nucleotide exchange factor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119764	KLHDC7A	kelch domain containing 7A	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12119769	LACTB	lactamase beta	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12119769	LACTB	lactamase beta	gene	DOID:1909	melanoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119769	LACTB	lactamase beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119769	LACTB	lactamase beta	gene	DOID:3275	thymoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119769	LACTB	lactamase beta	gene	DOID:4362	cervical cancer		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119769	LACTB	lactamase beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119769	LACTB	lactamase beta	gene	DOID:9970	obesity		ISO	RGD:1312433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344982
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:10534	stomach cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:1115	sarcoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:3070	high grade glioma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:6039	uveal melanoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119778	TTC13	tetratricopeptide repeat domain 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1320938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12119819	TLCD3B	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:7240710	20210929	OMIM			
12119819	TLCD3B	TLC domain containing 3B	gene	DOID:0081448	cone-rod dystrophy 22		ISO	RGD:1605610	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 22	
12119819	TLCD3B	TLC domain containing 3B	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1605610	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12119819	TLCD3B	TLC domain containing 3B	gene	DOID:1324	lung cancer		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12119819	TLCD3B	TLC domain containing 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119826	IL19	interleukin 19	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:127303445|RGD:127303452|RGD:13500487|RGD:15142489	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease	PMID:25741868|PMID:28492532
12119826	IL19	interleukin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1315107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119826	IL19	interleukin 19	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1315107	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18246602|REF_RGD_ID:5037232
12119826	IL19	interleukin 19	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1315108	D	RGD:9068941	20200609	RGD			PMID:18246602|REF_RGD_ID:5037232
12119826	IL19	interleukin 19	gene	DOID:2841	asthma		ISO	RGD:1315107	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15557163|REF_RGD_ID:5037236
12119826	IL19	interleukin 19	gene	DOID:2841	asthma		ISO	RGD:1315108	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, serum	PMID:15557163|REF_RGD_ID:5037236
12119826	IL19	interleukin 19	gene	DOID:3388	periodontal disease		ISO	RGD:1583546	D	RGD:9068941	20200609	RGD		mRNA:increased expression:B cell	PMID:20618701|REF_RGD_ID:5024938
12119826	IL19	interleukin 19	gene	DOID:784	chronic kidney disease		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24714768
12119826	IL19	interleukin 19	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18006695
12119826	IL19	interleukin 19	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1315107	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19430480
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313896	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:11836	clubfoot		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:1313896	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:7240710	20240306	OMIM			
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9004553	NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline	PMID:25741868
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:7240710	20240529	OMIM			
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9007586	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER | ClinVar Annotator: match by term: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder	PMID:25741868|PMID:35979925|PMID:36136249
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:35979925
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119833	CAPRIN1	cell cycle associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119855	NALF2	NALCN channel auxiliary factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119855	NALF2	NALCN channel auxiliary factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1348575	D	RGD:9068941	20200609	RGD		DNA:insertions, deletions, missense mutations: :multiple	PMID:17559086|REF_RGD_ID:11065022
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1348575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:17878207
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:17559086|PMID:17878207|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32860008
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31311558|PMID:32860008
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:28097321|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:27066551|PMID:28097321|PMID:28116189|PMID:28492532|PMID:30426380|PMID:31311558|PMID:32860008|PMID:35606784
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28815891|PMID:29101272|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32860008|PMID:34930662|PMID:35606784
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11053679|PMID:11320179|PMID:12369018|PMID:14678799|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18513969|PMID:18640039|PMID:18647264|PMID:18752264|PMID:19299310|PMID:20816175|PMID:22323514|PMID:22549409|PMID:23757202|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26245304|PMID:26467025|PMID:27066551|PMID:27159402|PMID:27193224|PMID:28097321|PMID:28116189|PMID:28492532|PMID:28815891|PMID:29101272|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32860008|PMID:34930662|PMID:35606784|PMID:9536098
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:12369018|PMID:15637732|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18414213|PMID:18647264|PMID:18752264|PMID:22323514|PMID:24033266|PMID:24304607|PMID:24491487|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28815891|PMID:31311558|PMID:31680349|PMID:32528171|PMID:35046417|PMID:9536098
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1348575	D	RGD:7240710	20180130	OMIM			
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1	PMID:12369018|PMID:15637732|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17869517|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18647264|PMID:18752264|PMID:20816175|PMID:22323514|PMID:22549409|PMID:24033266|PMID:24304607|PMID:24491487|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28815891|PMID:31311558|PMID:31680349|PMID:32528171|PMID:35046417|PMID:39103709|PMID:9536098
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348575	D	RGD:9068941	20200609	RGD		associated with Muscular Dystrophies	PMID:22549409|REF_RGD_ID:11069993
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348575	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17878207
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17878207
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:12369018|PMID:15522202|PMID:15637732|PMID:15733261|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16698797|PMID:17559086|PMID:22323514|PMID:24304607|PMID:24491487|PMID:25741868|PMID:28157257|PMID:28492532|PMID:32528171|PMID:35046417
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K		ISO	RGD:1348575	D	RGD:7240710	20180130	OMIM			
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0110297	autosomal recessive limb-girdle muscular dystrophy type 2K		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2K | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1	PMID:12369018|PMID:15637732|PMID:15792865|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18647264|PMID:18752264|PMID:19763152|PMID:20307669|PMID:22323514|PMID:22406018|PMID:22499106|PMID:22549409|PMID:24033266|PMID:24304607|PMID:24491487|PMID:24901346|PMID:25741868|PMID:26467025|PMID:27159402|PMID:27193224|PMID:27363342|PMID:28097321|PMID:28157257|PMID:28403181|PMID:28492532|PMID:28815891|PMID:30426380|PMID:31311558|PMID:31680349|PMID:32528171|PMID:33146414|PMID:34490615|PMID:35046417|PMID:9536098
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1348575	D	RGD:7240710	20190703	OMIM			
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN ANOMALIES), TYPE A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:12369018|PMID:15522202|PMID:15637732|PMID:16199547|PMID:16575835|PMID:16717220|PMID:17559086|PMID:17576681|PMID:18640039|PMID:18647264|PMID:18752264|PMID:22323514|PMID:24033266|PMID:24304607|PMID:24491487|PMID:25741868|PMID:26467025|PMID:27193224|PMID:28492532|PMID:28556411|PMID:31311558|PMID:31319225|PMID:32528171|PMID:35046417|PMID:9536098
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:17878207|PMID:23894383|PMID:25741868|PMID:33200426|PMID:34015165
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:23894383|PMID:25741868|PMID:33200426|PMID:34015165
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1348575	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:540	strabismus		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17878207
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12369018|PMID:16575835|PMID:17559086|PMID:18640039|PMID:18752264|PMID:19299310|PMID:22323514|PMID:23757202|PMID:24304607|PMID:24491487|PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532|PMID:31311558|PMID:32860008
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1348575	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:25954003|PMID:26467025|PMID:27618451|PMID:28490743|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23894383|PMID:25741868|PMID:33200426|PMID:34015165
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348575	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:18414213|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9296	cleft lip		ISO	RGD:1348575	D	RGD:9068941	20200609	RGD		associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon	PMID:18640039|REF_RGD_ID:11532685
12119872	POMT1	protein O-mannosyltransferase 1	gene	DOID:9884	muscular dystrophy		ISO	RGD:1348575	D	RGD:9068941	20200609	RGD		DNA:mutations: :multiple	PMID:16575835|REF_RGD_ID:11532686
12119916	CMTM5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119916	CMTM5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12119916	CMTM5	CKLF like MARVEL transmembrane domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1316008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12119925	ALKAL1	ALK and LTK ligand 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604440	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12119925	ALKAL1	ALK and LTK ligand 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12119937	MIEF1	mitochondrial elongation factor 1	gene	DOID:5723	optic atrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12119937	MIEF1	mitochondrial elongation factor 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604008	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:29177109
12119937	MIEF1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:7240710	20231101	OMIM			
12119937	MIEF1	mitochondrial elongation factor 1	gene	DOID:9009065	Optic Atrophy 14		ISO	RGD:1604008	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OPTIC ATROPHY 14	
12119962	GALR3	galanin receptor 3	gene	DOID:1470	major depressive disorder		ISO	RGD:735333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27940914
12119962	GALR3	galanin receptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:735333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119973	PCGF3	polycomb group ring finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12119973	PCGF3	polycomb group ring finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12119973	PCGF3	polycomb group ring finger 3	gene	DOID:3275	thymoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12119973	PCGF3	polycomb group ring finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119973	PCGF3	polycomb group ring finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12119993	MZT1	mitotic spindle organizing protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:2300357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12119993	MZT1	mitotic spindle organizing protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2300357	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12119993	MZT1	mitotic spindle organizing protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:2300357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12119993	MZT1	mitotic spindle organizing protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12119993	MZT1	mitotic spindle organizing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2300357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120002	HOXA11	homeobox A11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120002	HOXA11	homeobox A11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120002	HOXA11	homeobox A11	gene	DOID:11111	hydronephrosis		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:35253374
12120002	HOXA11	homeobox A11	gene	DOID:13938	amenorrhea		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:35253374
12120002	HOXA11	homeobox A11	gene	DOID:2213	hemorrhagic disease		ISO	RGD:735680	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12120002	HOXA11	homeobox A11	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735680	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35253374
12120002	HOXA11	homeobox A11	gene	DOID:4362	cervical cancer		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120002	HOXA11	homeobox A11	gene	DOID:557	kidney disease		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
12120002	HOXA11	homeobox A11	gene	DOID:784	chronic kidney disease		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:35253374
12120002	HOXA11	homeobox A11	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:735680	D	RGD:8554872	20240305	ClinVar		ClinVar Annotator: match by term: Inherited genitourinary tract anomalies	PMID:32666543
12120002	HOXA11	homeobox A11	gene	DOID:9002496	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: THROMBOCYTOPENIA, CONGENITAL, WITH RADIOULNAR SYNOSTOSIS	
12120002	HOXA11	homeobox A11	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12120002	HOXA11	homeobox A11	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1564605	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:verterbra	PMID:18327665|REF_RGD_ID:11354896
12120002	HOXA11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:7240710	20190320	OMIM			
12120002	HOXA11	homeobox A11	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:735680	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOXA11-related condition | ClinVar Annotator: match by term: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	PMID:25741868|PMID:28748566
12120002	HOXA11	homeobox A11	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
12120002	HOXA11	homeobox A11	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:735680	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16804899
12120002	HOXA11	homeobox A11	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:735680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:35253374
12120002	HOXA11	homeobox A11	gene	DOID:9827	radioulnar synostosis		ISO	RGD:735680	D	RGD:9068941	20200609	RGD			PMID:11101832|REF_RGD_ID:11353968
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:10316	pneumoconiosis		ISO	RGD:1316310	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:10534	stomach cancer		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:1324	lung cancer		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:1909	melanoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:2843	long QT syndrome		ISO	RGD:1316310	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:3275	thymoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120008	ARHGAP22	Rho GTPase activating protein 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120025	CENPW	centromere protein W	gene	DOID:0080600	COVID-19		ISO	RGD:1350206	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12120025	CENPW	centromere protein W	gene	DOID:1115	sarcoma		ISO	RGD:1350206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120025	CENPW	centromere protein W	gene	DOID:1324	lung cancer		ISO	RGD:1350206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120025	CENPW	centromere protein W	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350206	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12120032	NAT8	N-acetyltransferase 8 (putative)	gene	DOID:3275	thymoma		ISO	RGD:1350744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120032	NAT8	N-acetyltransferase 8 (putative)	gene	DOID:543	dystonia		ISO	RGD:156438172	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:16697227|PMID:16752391|PMID:22522443|PMID:23542699|PMID:28492532|PMID:30682498
12120032	NAT8	N-acetyltransferase 8 (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120032	NAT8	N-acetyltransferase 8 (putative)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12120131	LEP	leptin	gene	DOID:0050741	alcohol dependence		ISO	RGD:3000	D	RGD:9068941	20241010	RGD		DNA:hypomethylation:promoter	PMID:30650427|REF_RGD_ID:407572512
12120131	LEP	leptin	gene	DOID:0050741	alcohol dependence		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:29912265|REF_RGD_ID:21201248
12120131	LEP	leptin	gene	DOID:0050741	alcohol dependence	severity	ISO	RGD:69123	D	RGD:9068941	20240803	RGD			PMID:19884906|REF_RGD_ID:407424613
12120131	LEP	leptin	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18606530|REF_RGD_ID:5128817
12120131	LEP	leptin	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:69123	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12120131	LEP	leptin	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:69124	D	RGD:9068941	20220825	MouseDO			
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)	PMID:20476641|REF_RGD_ID:25330346
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;protein:increased expression:serum (human)	PMID:30052309|REF_RGD_ID:25330349
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)	PMID:20476641|REF_RGD_ID:25330346
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with Type 2 Diabetes Mellitus;protein:increased expression:plasma	PMID:18713300|REF_RGD_ID:2311137
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;protein:increased expression:serum (human)	PMID:30052309|REF_RGD_ID:25330349
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69123	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: marker/mechanism	PMID:24211274|PMID:36105184
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic;proteinLincreased expression:serum (human)	PMID:20476641|REF_RGD_ID:25330346
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;protein:increased expression:serum (human)	PMID:30052309|REF_RGD_ID:25330349
12120131	LEP	leptin	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69124	D	RGD:9068941	20220825	MouseDO		OMIM:613282 | OMIM:613387	
12120131	LEP	leptin	gene	DOID:0111334	congenital leptin deficiency		ISO	RGD:69123	D	RGD:7240710	20180130	OMIM			
12120131	LEP	leptin	gene	DOID:0111334	congenital leptin deficiency		ISO	RGD:69123	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEP-related condition | ClinVar Annotator: match by term: LEPTIN DEFICIENCY | ClinVar Annotator: match by term: LEPTIN DYSFUNCTION | ClinVar Annotator: match by term: Obesity due to congenital leptin deficiency	PMID:15937081|PMID:19427251|PMID:20140086|PMID:20307995|PMID:25741868|PMID:26186301|PMID:27075752|PMID:28209183|PMID:28377240|PMID:28492532|PMID:32349990|PMID:37327085|PMID:39002670|PMID:9745435
12120131	LEP	leptin	gene	DOID:10591	pre-eclampsia		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16021089|REF_RGD_ID:5128718
12120131	LEP	leptin	gene	DOID:10603	glucose intolerance		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22948215|REF_RGD_ID:12904911
12120131	LEP	leptin	gene	DOID:10603	glucose intolerance		ISO	RGD:69123	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:21315688|PMID:24150608|PMID:29650965
12120131	LEP	leptin	gene	DOID:10605	short bowel syndrome		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:19730157|REF_RGD_ID:5128624
12120131	LEP	leptin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20157255
12120131	LEP	leptin	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		compared to cortisol;protein:altered expression:plasma (human)	PMID:9755363|REF_RGD_ID:10053632
12120131	LEP	leptin	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:25296496|REF_RGD_ID:10053617
12120131	LEP	leptin	gene	DOID:10763	hypertension		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:20059648|REF_RGD_ID:5128597
12120131	LEP	leptin	gene	DOID:10763	hypertension		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12050272|PMID:16827954|PMID:25205467|PMID:27226618
12120131	LEP	leptin	gene	DOID:10763	hypertension		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19204185|REF_RGD_ID:5128788
12120131	LEP	leptin	gene	DOID:10808	gastric ulcer		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10422768|PMID:11025360|PMID:11787760|PMID:15024038|PMID:16015682|PMID:18181030
12120131	LEP	leptin	gene	DOID:1115	sarcoma		ISO	RGD:69123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120131	LEP	leptin	gene	DOID:11394	adult respiratory distress syndrome	disease_progression	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		respiratory system fluid/secretion	PMID:21317313|REF_RGD_ID:5128773
12120131	LEP	leptin	gene	DOID:11476	osteoporosis		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (rat)	PMID:24250662|REF_RGD_ID:10053572
12120131	LEP	leptin	gene	DOID:11476	osteoporosis		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with chronic obstructive pulmonary disease; protein:decreased expression:serum	PMID:21376149|REF_RGD_ID:5128771
12120131	LEP	leptin	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:12609558|REF_RGD_ID:10053615
12120131	LEP	leptin	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:11459801|REF_RGD_ID:10053630
12120131	LEP	leptin	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22381227
12120131	LEP	leptin	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, adipose tissue (rat)	PMID:17671736|REF_RGD_ID:10053616
12120131	LEP	leptin	gene	DOID:11714	gestational diabetes		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20421132
12120131	LEP	leptin	gene	DOID:11714	gestational diabetes		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19269197|REF_RGD_ID:2311131
12120131	LEP	leptin	gene	DOID:11832	visual epilepsy		ISO	RGD:69123	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:17993459
12120131	LEP	leptin	gene	DOID:11981	morbid obesity		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15070752|PMID:9500540
12120131	LEP	leptin	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:16093869|REF_RGD_ID:10411894
12120131	LEP	leptin	gene	DOID:12849	autistic disorder		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17347881
12120131	LEP	leptin	gene	DOID:12858	Huntington's disease		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19573560|REF_RGD_ID:5128676
12120131	LEP	leptin	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promoter (human)	PMID:29912265|REF_RGD_ID:21201248
12120131	LEP	leptin	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promoter (human)	PMID:29912265|REF_RGD_ID:21201248
12120131	LEP	leptin	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		DNA:hypomethylation:promoter (human)	PMID:29912265|REF_RGD_ID:21201248
12120131	LEP	leptin	gene	DOID:14221	abdominal obesity-metabolic syndrome 1		ISO	RGD:69124	D	RGD:9068941	20220825	MouseDO		OMIM:605552	
12120131	LEP	leptin	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD		rat protein in a mouse model	PMID:17895242|REF_RGD_ID:10053631
12120131	LEP	leptin	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:69123	D	RGD:9068941	20200609	RGD			PMID:18353734|REF_RGD_ID:5128819
12120131	LEP	leptin	gene	DOID:1612	breast cancer		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16019138|REF_RGD_ID:8694425
12120131	LEP	leptin	gene	DOID:1924	hypogonadism		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15070752|PMID:9500540
12120131	LEP	leptin	gene	DOID:1924	hypogonadism	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21790658|REF_RGD_ID:10053622
12120131	LEP	leptin	gene	DOID:2018	hyperinsulinism		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22948215|REF_RGD_ID:12904911
12120131	LEP	leptin	gene	DOID:2018	hyperinsulinism		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9826672
12120131	LEP	leptin	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
12120131	LEP	leptin	gene	DOID:2841	asthma		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19705789|REF_RGD_ID:5128781
12120131	LEP	leptin	gene	DOID:2913	acute pancreatitis		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with fatty liver disease; protein:increased expression:serum:	PMID:26634430|REF_RGD_ID:11552763
12120131	LEP	leptin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:20021311|REF_RGD_ID:5128778
12120131	LEP	leptin	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:21367591|REF_RGD_ID:5128772
12120131	LEP	leptin	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: -2548 G>A (human)	PMID:20854423|REF_RGD_ID:5128777
12120131	LEP	leptin	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:3000	D	RGD:9068941	20210924	RGD		protein:increased expression:adipose tissue (rat)	PMID:30550969|REF_RGD_ID:25330351
12120131	LEP	leptin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19033693|REF_RGD_ID:5128815
12120131	LEP	leptin	gene	DOID:4195	hyperglycemia		ISO	RGD:69123	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:19716478|PMID:21561152|PMID:29650965|PMID:31313498|PMID:31483951
12120131	LEP	leptin	gene	DOID:4450	renal cell carcinoma	resistance	ISO	RGD:69123	D	RGD:9068941	20200609	RGD			PMID:19278051|REF_RGD_ID:6907119
12120131	LEP	leptin	gene	DOID:4483	rhinitis		ISO	RGD:69123	D	RGD:9068941	20200609	RGD			PMID:19860581|REF_RGD_ID:5128850
12120131	LEP	leptin	gene	DOID:5016	hepatocellular clear cell carcinoma		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:20723213|REF_RGD_ID:14696785
12120131	LEP	leptin	gene	DOID:576	proteinuria		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25205467
12120131	LEP	leptin	gene	DOID:6000	congestive heart failure		ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:18006469|REF_RGD_ID:5128823
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:18573568|REF_RGD_ID:25330348
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:18573568|REF_RGD_ID:25330348
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69124	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:18573568|REF_RGD_ID:25330348
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:3000	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:-2548G>A (rs7799039) (human)	PMID:28452232|REF_RGD_ID:15039399
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:-2548G>A (rs7799039) (human)	PMID:28452232|REF_RGD_ID:15039399
12120131	LEP	leptin	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:69124	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:-2548G>A (rs7799039) (human)	PMID:28452232|REF_RGD_ID:15039399
12120131	LEP	leptin	gene	DOID:783	end stage renal disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:9294834|REF_RGD_ID:10053636
12120131	LEP	leptin	gene	DOID:8398	osteoarthritis	severity	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:increased expression:tibia, cartilage, chondrocyte (human)	PMID:14613274|REF_RGD_ID:10053634
12120131	LEP	leptin	gene	DOID:850	lung disease		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		acute lung injury associated pancreatitis	PMID:17589942|REF_RGD_ID:5128844
12120131	LEP	leptin	gene	DOID:874	bacterial pneumonia		ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:11937559|REF_RGD_ID:5128871
12120131	LEP	leptin	gene	DOID:8778	Crohn's disease		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
12120131	LEP	leptin	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:19777863|REF_RGD_ID:5128780
12120131	LEP	leptin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22948215|REF_RGD_ID:12904911
12120131	LEP	leptin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25086370
12120131	LEP	leptin	gene	DOID:9000998	Brain Injuries		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21276361|REF_RGD_ID:5128517
12120131	LEP	leptin	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X;mRNA:increased expression:retina (rat)	PMID:25380250|REF_RGD_ID:10053625
12120131	LEP	leptin	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:3000	D	RGD:9068941	20250327	RGD		mRNA:increased expression:visceral adipose	PMID:29089335|REF_RGD_ID:21410183
12120131	LEP	leptin	gene	DOID:9001443	Hypercapnia		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with obesity	PMID:11809994|REF_RGD_ID:5128875
12120131	LEP	leptin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:20509998|REF_RGD_ID:5128589
12120131	LEP	leptin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12586293|PMID:16097051|PMID:29248466
12120131	LEP	leptin	gene	DOID:9001573	Experimental Liver Cirrhosis	disease_progression	ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:19065677|REF_RGD_ID:5128713
12120131	LEP	leptin	gene	DOID:9001981	Weight Loss		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27417254
12120131	LEP	leptin	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:17822444|REF_RGD_ID:5128869
12120131	LEP	leptin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:22773754|REF_RGD_ID:6907074
12120131	LEP	leptin	gene	DOID:9002221	Hyperplasia		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27712037
12120131	LEP	leptin	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21353474|REF_RGD_ID:5128507
12120131	LEP	leptin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15042602
12120131	LEP	leptin	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:23575542|REF_RGD_ID:10411887
12120131	LEP	leptin	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15142272
12120131	LEP	leptin	gene	DOID:9002554	Tachycardia		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16827954
12120131	LEP	leptin	gene	DOID:9002916	Hyperphagia		ISO	RGD:69123	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12177191|PMID:25086370|PMID:26186301|PMID:27071101
12120131	LEP	leptin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17354198
12120131	LEP	leptin	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17993459
12120131	LEP	leptin	gene	DOID:9003287	Body Weight Changes		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21328617|REF_RGD_ID:5128513
12120131	LEP	leptin	gene	DOID:9003370	Dyslipidemias		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:altered expression: serum (rat)	PMID:29089335|REF_RGD_ID:21410183
12120131	LEP	leptin	gene	DOID:9003370	Dyslipidemias		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:altered expression: serum (rat)	PMID:29089335|REF_RGD_ID:21410183
12120131	LEP	leptin	gene	DOID:9003370	Dyslipidemias		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		protein:altered expression: serum (rat)	PMID:29089335|REF_RGD_ID:21410183
12120131	LEP	leptin	gene	DOID:9003671	Hypoventilation		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		Obesity Hypoventilation Syndrome	PMID:16179823|REF_RGD_ID:5128870
12120131	LEP	leptin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:69123	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:38906502
12120131	LEP	leptin	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21086559|REF_RGD_ID:5128549
12120131	LEP	leptin	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:altered localization:serum (human)	PMID:11336170|REF_RGD_ID:21201249
12120131	LEP	leptin	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:altered localization:serum (human)	PMID:11336170|REF_RGD_ID:21201249
12120131	LEP	leptin	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		protein:altered localization:serum (human)	PMID:11336170|REF_RGD_ID:21201249
12120131	LEP	leptin	gene	DOID:9004484	Sepsis		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:18575315|REF_RGD_ID:5128818
12120131	LEP	leptin	gene	DOID:9004657	Weight Gain		ISO	RGD:69123	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15070752|PMID:15809509|PMID:17502770|PMID:19716478|PMID:21561152|PMID:25086370|PMID:27472835|PMID:29967158|PMID:38906502
12120131	LEP	leptin	gene	DOID:9005005	Oral Ulcer		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16391412
12120131	LEP	leptin	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22246620|REF_RGD_ID:8694468
12120131	LEP	leptin	gene	DOID:9005274	Polyuria		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25086370
12120131	LEP	leptin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:69123	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:19716478|PMID:27071101|PMID:38906502
12120131	LEP	leptin	gene	DOID:9005372	Inflammation		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14599722|PMID:27712037
12120131	LEP	leptin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:19491210|REF_RGD_ID:2311124
12120131	LEP	leptin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69123	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:28242381|PMID:31313498|PMID:31483951
12120131	LEP	leptin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69124	D	RGD:9068941	20200609	RGD			PMID:19428774|REF_RGD_ID:2311126
12120131	LEP	leptin	gene	DOID:9005643	Experimental Diabetes Mellitus	onset	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:20695765|REF_RGD_ID:5128579
12120131	LEP	leptin	gene	DOID:9006223	Kidney Reperfusion Injury	resistance	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22969992|REF_RGD_ID:6909133
12120131	LEP	leptin	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:22948215|REF_RGD_ID:12904911
12120131	LEP	leptin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:25380250|REF_RGD_ID:10053625
12120131	LEP	leptin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16793964|PMID:18515891
12120131	LEP	leptin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69123	D	RGD:9068941	20200609	RGD			PMID:19462476|REF_RGD_ID:2311125
12120131	LEP	leptin	gene	DOID:9006727	Polydipsia		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25086370
12120131	LEP	leptin	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:69123	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:38906502
12120131	LEP	leptin	gene	DOID:9007456	Female Infertility		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22265003
12120131	LEP	leptin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:cds:	PMID:23800849|REF_RGD_ID:8549777
12120131	LEP	leptin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19296906|REF_RGD_ID:5128697
12120131	LEP	leptin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:19419916|REF_RGD_ID:2311127
12120131	LEP	leptin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69123	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10753628|PMID:11342529|PMID:24150608|PMID:29650965
12120131	LEP	leptin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21122204|REF_RGD_ID:5128547
12120131	LEP	leptin	gene	DOID:9007996	End Stage Liver Disease		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:9640405|REF_RGD_ID:25330350
12120131	LEP	leptin	gene	DOID:9007996	End Stage Liver Disease		ISO	RGD:69123	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:9640405|REF_RGD_ID:25330350
12120131	LEP	leptin	gene	DOID:9007996	End Stage Liver Disease		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:9640405|REF_RGD_ID:25330350
12120131	LEP	leptin	gene	DOID:9008763	Femoral Fractures		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:21276361|REF_RGD_ID:5128517
12120131	LEP	leptin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69123	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:21353530|PMID:35191604
12120131	LEP	leptin	gene	DOID:9351	diabetes mellitus		ISO	RGD:69123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
12120131	LEP	leptin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:19289493|REF_RGD_ID:2311130
12120131	LEP	leptin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15070752
12120131	LEP	leptin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69124	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12120131	LEP	leptin	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69123	D	RGD:9068941	20200806	RGD		DNA:SNP,haplotype:promoter,3'utr: -632G>A, +4998A>C (human)	PMID:18564365|REF_RGD_ID:2311139
12120131	LEP	leptin	gene	DOID:9452	steatotic liver disease		ISO	RGD:69123	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:12661780|PMID:19716478|PMID:24525044|PMID:25554529|PMID:27071101|PMID:27712037
12120131	LEP	leptin	gene	DOID:9452	steatotic liver disease		ISO	RGD:69124	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
12120131	LEP	leptin	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:3000	D	RGD:9068941	20200609	RGD		associated with morbid obesity;protein:decreased exprssion:serum (human)	PMID:28281237|REF_RGD_ID:21201250
12120131	LEP	leptin	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		associated with morbid obesity;protein:decreased exprssion:serum (human)	PMID:28281237|REF_RGD_ID:21201250
12120131	LEP	leptin	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:69124	D	RGD:9068941	20200609	RGD		associated with morbid obesity;protein:decreased exprssion:serum (human)	PMID:28281237|REF_RGD_ID:21201250
12120131	LEP	leptin	gene	DOID:9970	obesity		ISO	RGD:69123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Obesity	
12120131	LEP	leptin	gene	DOID:9970	obesity	no_association	ISO	RGD:69123	D	RGD:9068941	20200609	RGD		in a US Caucasian population	PMID:15910756|REF_RGD_ID:1643130
12120131	LEP	leptin	gene	DOID:9970	obesity	treatment	ISO	RGD:3000	D	RGD:9068941	20200609	RGD			PMID:23793169|REF_RGD_ID:10053638
12120131	LEP	leptin	gene	DOID:9970	obesity	treatment	ISO	RGD:69124	D	RGD:9068941	20200609	RGD		mouse protein in a rat model	PMID:10029567|REF_RGD_ID:10053612
12120131	LEP	leptin	gene	DOID:9976	heroin dependence		ISO	RGD:69123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15717844
12120131	Lep	leptin	gene	DOID:0050741	alcohol dependence		ISO	RGD:3000	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:29912265|REF_RGD_ID:21201248
12120131	Lep	leptin	gene	DOID:0050741	alcohol dependence		ISO	RGD:69124	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:29912265|REF_RGD_ID:21201248
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:0060058	lymphoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:0080600	COVID-19		ISO	RGD:1350485	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1350485	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :rs3916765(human)	PMID:20159242|REF_RGD_ID:13506913
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:3275	thymoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350485	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1350485	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120150	DLA-DQA1	major histocompatibility complex, class II, DQ alpha 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350485	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12120165	PLA2G4B	phospholipase A2 group IVB	gene	DOID:9256	colorectal cancer		ISO	RGD:1318557	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: POLE-related polyposis and colorectal cancer syndrome	PMID:28492532
12120193	CADM2	cell adhesion molecule 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD			PMID:21996756|REF_RGD_ID:15092074
12120193	CADM2	cell adhesion molecule 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120193	CADM2	cell adhesion molecule 2	gene	DOID:1115	sarcoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120193	CADM2	cell adhesion molecule 2	gene	DOID:3069	malignant astrocytoma	severity	ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:30816549|REF_RGD_ID:19165125
12120193	CADM2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120193	CADM2	cell adhesion molecule 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:24240726|REF_RGD_ID:15092075
12120193	CADM2	cell adhesion molecule 2	gene	DOID:768	retinoblastoma		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:retina	PMID:30320366|REF_RGD_ID:15092072
12120193	CADM2	cell adhesion molecule 2	gene	DOID:8893	psoriasis		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD			PMID:21864505|REF_RGD_ID:15092073
12120193	CADM2	cell adhesion molecule 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120193	CADM2	cell adhesion molecule 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313847	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120193	CADM2	cell adhesion molecule 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs13078807 (human)	PMID:28401323|REF_RGD_ID:15092076
12120193	CADM2	cell adhesion molecule 2	gene	DOID:9970	obesity		ISO	RGD:1313847	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs13078807 (human)	PMID:31341224|REF_RGD_ID:15092077
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1317506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22875613
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1615754	D	RGD:9068941	20210129	RGD		BCR/ABL fusion	PMID:9310467|REF_RGD_ID:41404633
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:1317506	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15604220|PMID:18673174|PMID:21908430|PMID:33070465
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:10534	stomach cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:1115	sarcoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:1240	leukemia		ISO	RGD:1317506	D	RGD:9068941	20200609	RGD			PMID:11313935|REF_RGD_ID:11038780
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:1324	lung cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:3275	thymoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:4362	cervical cancer		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1317506	D	RGD:7240710	20180130	OMIM			
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1317506	D	RGD:9068941	20200609	RGD		DNA:methylation: :	PMID:7683349|REF_RGD_ID:11038783
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	disease_progression	ISO	RGD:1317506	D	RGD:9068941	20200609	RGD		DNA:translocations:cds:	PMID:2683759|REF_RGD_ID:11038776
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:1317506	D	RGD:9068941	20200609	RGD		DNA:gene fusion	PMID:3101769|REF_RGD_ID:1600510
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1317506	D	RGD:9068941	20210129	RGD		BCR/ABL fusion	PMID:12613514|REF_RGD_ID:41404631
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:8692	myeloid leukemia		IAGP		D	RGD:12801476	20230405	OMIA		Leukaemia, chronic monocytic	PMID:21143615|PMID:37009802
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1317506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878872
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9002473	Blast Crisis		ISO	RGD:1317506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21570118
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9002867	Myeloid Leukemia, Chronic-Phase	disease_progression	ISO	RGD:1317506	D	RGD:9068941	20200609	RGD			PMID:19344397|REF_RGD_ID:11038809
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9005749	Necrosis		ISO	RGD:1317506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23211037
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317506	D	RGD:7240710	20230505	OMIM			
12120212	BCR	BCR activator of RhoGEF and GTPase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1317506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute lymphoid leukemia	PMID:25741868
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:0080600	COVID-19		ISO	RGD:1343345	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:0112113	combined oxidative phosphorylation deficiency 45		ISO	RGD:1343345	D	RGD:7240710	20200812	OMIM			
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:0112113	combined oxidative phosphorylation deficiency 45		ISO	RGD:1343345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 45 | ClinVar Annotator: match by term: MRPL12-related condition	
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:1909	melanoma		ISO	RGD:1343345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1343345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120239	MRPL12	mitochondrial ribosomal protein L12	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1343345	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12120256	CA6	carbonic anhydrase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120256	CA6	carbonic anhydrase 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:14698802	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
12120256	CA6	carbonic anhydrase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120256	CA6	carbonic anhydrase 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1323700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:0080600	COVID-19		ISO	RGD:1314312	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:4362	cervical cancer		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1314312	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314312	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120274	CHMP5	charged multivesicular body protein 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17708794
12120286	TSPAN33	tetraspanin 33	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120286	TSPAN33	tetraspanin 33	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120286	TSPAN33	tetraspanin 33	gene	DOID:1115	sarcoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120286	TSPAN33	tetraspanin 33	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120286	TSPAN33	tetraspanin 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120286	TSPAN33	tetraspanin 33	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120302	FGA	fibrinogen alpha chain	gene	DOID:0050636	hereditary systemic amyloidosis 2		ISO	RGD:737209	D	RGD:7240710	20180130	OMIM			
12120302	FGA	fibrinogen alpha chain	gene	DOID:0050636	hereditary systemic amyloidosis 2		ISO	RGD:737209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AFib amyloidosis | ClinVar Annotator: match by term: AMYLOIDOSIS VIII | ClinVar Annotator: match by term: AMYLOIDOSIS, HEREDITARY SYSTEMIC 2	PMID:16651864|PMID:19468208|PMID:25741868|PMID:28492532|PMID:31064749
12120302	FGA	fibrinogen alpha chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120302	FGA	fibrinogen alpha chain	gene	DOID:0051061	stroke		ISO	RGD:737209	D	RGD:9068941	20240808	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12120302	FGA	fibrinogen alpha chain	gene	DOID:0060903	thrombosis		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8473507
12120302	FGA	fibrinogen alpha chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:0112313	brain small vessel disease		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotypes	PMID:17951283|REF_RGD_ID:5688761
12120302	FGA	fibrinogen alpha chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:10126	keratoconus		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		protein:decreased expression:tear (human)	PMID:24194634|REF_RGD_ID:11040557
12120302	FGA	fibrinogen alpha chain	gene	DOID:1059	intellectual disability		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:23538169|REF_RGD_ID:10755508
12120302	FGA	fibrinogen alpha chain	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:22800895|REF_RGD_ID:10755509
12120302	FGA	fibrinogen alpha chain	gene	DOID:11476	osteoporosis		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12120302	FGA	fibrinogen alpha chain	gene	DOID:13580	cholestasis		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20974703
12120302	FGA	fibrinogen alpha chain	gene	DOID:1389	polyneuropathy		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:1588	thrombocytopenia		ISO	RGD:737209	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:28492532
12120302	FGA	fibrinogen alpha chain	gene	DOID:1588	thrombocytopenia	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:2005585|REF_RGD_ID:10755505
12120302	FGA	fibrinogen alpha chain	gene	DOID:2213	hemorrhagic disease		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:28492532
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:7240710	20180130	OMIM			
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17576681|PMID:17982313|PMID:19109585|PMID:19420351|PMID:19468208|PMID:22880226|PMID:237956|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31924745|PMID:32166693|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:17295221|PMID:17576681|PMID:17982313|PMID:19073821|PMID:19109585|PMID:19417632|PMID:19420351|PMID:19468208|PMID:22880226|PMID:23852822|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26577257|PMID:26763372|PMID:27164460|PMID:2738154|PMID:27684817|PMID:28101869|PMID:28492532|PMID:28912669|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:32166693|PMID:32497950|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34275736|PMID:34355501|PMID:3590111|PMID:3618591|PMID:4052020|PMID:6191801|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:11238133|PMID:11354637|PMID:11914657|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:16362348|PMID:16651864|PMID:16807657|PMID:17179831|PMID:17295221|PMID:17576681|PMID:17982313|PMID:19073821|PMID:19109585|PMID:19417632|PMID:19420351|PMID:19468208|PMID:20598104|PMID:22880226|PMID:2379562|PMID:23852822|PMID:24533951|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26278915|PMID:26763372|PMID:27164460|PMID:2738154|PMID:2742827|PMID:2742828|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:28912669|PMID:29636644|PMID:30019658|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31583746|PMID:31924745|PMID:32166693|PMID:32497950|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34255402|PMID:34275736|PMID:34355501|PMID:35008554|PMID:3590111|PMID:3618591|PMID:36950719|PMID:37583269|PMID:37846702|PMID:38251440|PMID:38286442|PMID:4052020|PMID:4084461|PMID:6191801|PMID:6575689|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia	PMID:10602365|PMID:10605955|PMID:10887149|PMID:10891444|PMID:10910940|PMID:11238133|PMID:11354637|PMID:11914657|PMID:12050338|PMID:12358944|PMID:12871326|PMID:14615374|PMID:15795544|PMID:16362348|PMID:16651864|PMID:16807657|PMID:17179831|PMID:17295221|PMID:17576681|PMID:17982313|PMID:19073821|PMID:19109585|PMID:19417632|PMID:19420351|PMID:19468208|PMID:20598104|PMID:22880226|PMID:2379562|PMID:23852822|PMID:24533951|PMID:25320241|PMID:25741868|PMID:25816717|PMID:26006300|PMID:26278915|PMID:26763372|PMID:27164460|PMID:2738154|PMID:2742827|PMID:2742828|PMID:27684817|PMID:28101869|PMID:28211264|PMID:28492532|PMID:28912669|PMID:29636644|PMID:30019658|PMID:30332696|PMID:30349899|PMID:30856382|PMID:31064749|PMID:31314131|PMID:31583746|PMID:31924745|PMID:32166693|PMID:32497950|PMID:32660897|PMID:32877852|PMID:3345340|PMID:33668986|PMID:34255402|PMID:34275736|PMID:34355501|PMID:35008554|PMID:3590111|PMID:3618591|PMID:36950719|PMID:37583269|PMID:37846702|PMID:38251440|PMID:38286442|PMID:4052020|PMID:4084461|PMID:6191801|PMID:6575689|PMID:7298640|PMID:8113408|PMID:8473507|PMID:8636415|PMID:8944230|PMID:9536098
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AFIBRINOGENEMIA, CONGENITAL | ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Congenital hypofibrinogenemia | ClinVar Annotator: match by term: Factor I deficiency | ClinVar Annotator: match by term: Hypofibrinogenemia | ClinVar Annotator: match by term: hypofibrinogenemia	PMID:10825402|PMID:10887149|PMID:15795544|PMID:16651864|PMID:17295221|PMID:19073821|PMID:19109585|PMID:19420351|PMID:19468208|PMID:23852822|PMID:25741868|PMID:26278915|PMID:26763372|PMID:28492532|PMID:31064749|PMID:31343282|PMID:31965297|PMID:32660897|PMID:34355501|PMID:37832789|PMID:37920778|PMID:40099427|PMID:8113408|PMID:8944230
12120302	FGA	fibrinogen alpha chain	gene	DOID:2236	congenital afibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AFIBRINOGENEMIA, CONGENITAL | ClinVar Annotator: match by term: Afibrinogenemia | ClinVar Annotator: match by term: Congenital afibrinogenemia | ClinVar Annotator: match by term: Congenital hypofibrinogenemia | ClinVar Annotator: match by term: Hypofibrinogenemia | ClinVar Annotator: match by term: hypofibrinogenemia	PMID:10825402|PMID:10887149|PMID:12050338|PMID:15795544|PMID:16651864|PMID:17295221|PMID:19073821|PMID:19109585|PMID:19420351|PMID:19468208|PMID:23852822|PMID:25741868|PMID:26278915|PMID:26763372|PMID:28492532|PMID:29240685|PMID:31064749|PMID:31343282|PMID:31965297|PMID:32660897|PMID:34355501|PMID:37920778|PMID:40099427|PMID:8113408|PMID:8944230
12120302	FGA	fibrinogen alpha chain	gene	DOID:2316	brain ischemia	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:22737923|REF_RGD_ID:11040923
12120302	FGA	fibrinogen alpha chain	gene	DOID:2452	thrombophilia		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8473507
12120302	FGA	fibrinogen alpha chain	gene	DOID:2452	thrombophilia		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		DNA:polymorphism:p.T312A (human)	PMID:10910940|REF_RGD_ID:1601167
12120302	FGA	fibrinogen alpha chain	gene	DOID:2841	asthma	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:24523826|REF_RGD_ID:11040539
12120302	FGA	fibrinogen alpha chain	gene	DOID:3021	acute kidney failure		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:15805072|REF_RGD_ID:9685024
12120302	FGA	fibrinogen alpha chain	gene	DOID:4989	pancreatitis		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas, rough endoplasmic reticulum	PMID:19954227|REF_RGD_ID:5688770
12120302	FGA	fibrinogen alpha chain	gene	DOID:557	kidney disease		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
12120302	FGA	fibrinogen alpha chain	gene	DOID:576	proteinuria		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2603	D	RGD:9068941	20241116	RGD			PMID:31734577|REF_RGD_ID:408418726
12120302	FGA	fibrinogen alpha chain	gene	DOID:630	genetic disease		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120302	FGA	fibrinogen alpha chain	gene	DOID:784	chronic kidney disease		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:865	vasculitis		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:8778	Crohn's disease		ISO	RGD:737209	D	RGD:9068941	20200609	RGD			PMID:19683480|REF_RGD_ID:5688758
12120302	FGA	fibrinogen alpha chain	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:23503399|REF_RGD_ID:9685021
12120302	FGA	fibrinogen alpha chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:737209	D	RGD:7240710	20180130	OMIM			
12120302	FGA	fibrinogen alpha chain	gene	DOID:9003464	Congenital Dysfibrinogenemia		ISO	RGD:737209	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dysfibrinogenemia, congenital | ClinVar Annotator: match by term: FIBRINOGEN CARACAS 2	PMID:10825402|PMID:12050338|PMID:16651864|PMID:19109585|PMID:19420351|PMID:19468208|PMID:25741868|PMID:28492532|PMID:29240685|PMID:31064749|PMID:31343282|PMID:32660897|PMID:37920778|PMID:8113408|PMID:8944230
12120302	FGA	fibrinogen alpha chain	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:737209	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:16362348
12120302	FGA	fibrinogen alpha chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:2603	D	RGD:9068941	20260521	RGD		protein:increased expression:peripheral blood (rat)	PMID:23199547|REF_RGD_ID:7207783
12120302	FGA	fibrinogen alpha chain	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737209	D	RGD:9068941	20260521	RGD		DNA:SNP: :rs6050 (human)	PMID:22353194|REF_RGD_ID:5688756
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004484	Sepsis		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:24667622|REF_RGD_ID:9685020
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8097946|PMID:8639778
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004492	Familial Amyloidosis		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		renal amyloidosis,OMIM:105200;DNA:point mutation:exon:p.R554L (human)	PMID:8097946|REF_RGD_ID:1601166
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004590	Acute Liver Failure	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:24799907|REF_RGD_ID:11040538
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:increased expression:blood (rat)	PMID:22804886|REF_RGD_ID:7387313
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9004866	Ataxia		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:23086277|REF_RGD_ID:9684989
12120302	FGA	fibrinogen alpha chain	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:2603	D	RGD:9068941	20200609	RGD			PMID:19295478|REF_RGD_ID:11040925
12120302	FGA	fibrinogen alpha chain	gene	DOID:9005968	Neuralgia		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuropathic pain	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9006065	Arthralgia		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney	PMID:21685370|REF_RGD_ID:7175292
12120302	FGA	fibrinogen alpha chain	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072
12120302	FGA	fibrinogen alpha chain	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16239339
12120302	FGA	fibrinogen alpha chain	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20974703
12120302	FGA	fibrinogen alpha chain	gene	DOID:9007730	Burns		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:20664819|REF_RGD_ID:5131457
12120302	FGA	fibrinogen alpha chain	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:737209	D	RGD:9068941	20200609	RGD			PMID:21887273|REF_RGD_ID:5688767
12120302	FGA	fibrinogen alpha chain	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:737209	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
12120302	FGA	fibrinogen alpha chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:7974333|REF_RGD_ID:2312416
12120302	FGA	fibrinogen alpha chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:737209	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: pulmonary embolism	PMID:25741868|PMID:34355501
12120302	FGA	fibrinogen alpha chain	gene	DOID:9675	pulmonary emphysema		ISO	RGD:2603	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:20949089|REF_RGD_ID:11040553
12120302	FGA	fibrinogen alpha chain	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737209	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:25317080|REF_RGD_ID:11040558
12120312	CPE	carboxypeptidase E	gene	DOID:0050741	alcohol dependence		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:CDS: (rs13706874) (human)	PMID:20201924|REF_RGD_ID:405650609
12120312	CPE	carboxypeptidase E	gene	DOID:0050741	alcohol dependence		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs10517844)	PMID:27151647|REF_RGD_ID:405650603
12120312	CPE	carboxypeptidase E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120312	CPE	carboxypeptidase E	gene	DOID:1115	sarcoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120312	CPE	carboxypeptidase E	gene	DOID:11981	morbid obesity		ISO	RGD:732381	D	RGD:9068941	20200609	RGD		mRNA:increased expression:visceral abdominal fat:significantly higher expression in visceral fat than subcutaneous fat of morbidly obese subjects	PMID:12530526|REF_RGD_ID:1626182
12120312	CPE	carboxypeptidase E	gene	DOID:1936	atherosclerosis		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA:decreased expression:carotid plaque (human)	PMID:30305673|REF_RGD_ID:405650671
12120312	CPE	carboxypeptidase E	gene	DOID:28	endocrine system disease		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678
12120312	CPE	carboxypeptidase E	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA, protein:decreased expression:brain tumor (human)	PMID:22249620|REF_RGD_ID:405650684
12120312	CPE	carboxypeptidase E	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:732381	D	RGD:9068941	20240504	RGD		DNA:SNPs:CDS:intron 4, exon 4 (A2925G, G2855A) (human)	PMID:18080843|REF_RGD_ID:405650688
12120312	CPE	carboxypeptidase E	gene	DOID:5041	esophageal cancer		ISO	RGD:732381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120312	CPE	carboxypeptidase E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120312	CPE	carboxypeptidase E	gene	DOID:630	genetic disease		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12120312	CPE	carboxypeptidase E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120312	CPE	carboxypeptidase E	gene	DOID:9002420	BDV Syndrome		ISO	RGD:732381	D	RGD:7240710	20210818	OMIM			
12120312	CPE	carboxypeptidase E	gene	DOID:9002420	BDV Syndrome		ISO	RGD:732381	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BDV SYNDROME | ClinVar Annotator: match by term: BDV syndrome | ClinVar Annotator: match by term: CPE-related condition	PMID:11462236|PMID:25741868|PMID:26120850|PMID:28492532|PMID:35562395
12120312	CPE	carboxypeptidase E	gene	DOID:9004657	Weight Gain		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		associated with kidney transplant;DNA:SNP:CDS (rs1946816) (human)	PMID:26406335|REF_RGD_ID:405650673
12120312	CPE	carboxypeptidase E	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12120312	CPE	carboxypeptidase E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120312	CPE	carboxypeptidase E	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678
12120312	CPE	carboxypeptidase E	gene	DOID:9008023	Memory Disorders		ISO	RGD:732382	D	RGD:9068941	20200609	RGD			PMID:18570185|REF_RGD_ID:6483325
12120312	CPE	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:cds (rs1583645) (human)	PMID:23776430|REF_RGD_ID:405650683
12120312	CPE	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients	PMID:9662053|REF_RGD_ID:1626184
12120312	CPE	carboxypeptidase E	gene	DOID:9352	type 2 diabetes mellitus	onset	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:847C>T, amino acid R283W; earlier age of onset in heterozygotes in an four Ashkenazi families	PMID:11462236|REF_RGD_ID:1626183
12120312	CPE	carboxypeptidase E	gene	DOID:9452	steatotic liver disease		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		mRNA:decreased expression:stomach (human)	PMID:24716593|REF_RGD_ID:405650681
12120312	CPE	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15358678|PMID:23434795
12120312	CPE	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732381	D	RGD:9068941	20240502	RGD		DNA:SNP:intron (rs1946816, rs4481204) (human)	PMID:23900445|REF_RGD_ID:405650675
12120312	CPE	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732382	D	RGD:9068941	20200609	RGD		DNA:transition:CDS:729T>C, amino acid S202P; decreased activity results in decrease in processing of proinsulin	PMID:7663508|REF_RGD_ID:1626181
12120312	CPE	carboxypeptidase E	gene	DOID:9970	obesity		ISO	RGD:732382	D	RGD:9068941	20220825	MouseDO		OMIM:601665	
12120312	CPE	carboxypeptidase E	gene	DOID:9970	obesity	no_association	ISO	RGD:732381	D	RGD:9068941	20200609	RGD		no association between obesity or diabetes and three SNPs (-53G>T, -144G>A, 219G>A) in Japanese patients	PMID:9662053|REF_RGD_ID:1626184
12120324	PRIMPOL	primase and DNA directed polymerase	gene	DOID:9003490	Myopia 22, Autosomal Dominant		ISO	RGD:1605846	D	RGD:7240710	20190315	OMIM			
12120324	PRIMPOL	primase and DNA directed polymerase	gene	DOID:9003490	Myopia 22, Autosomal Dominant		ISO	RGD:1605846	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia 22, autosomal dominant | ClinVar Annotator: match by term: PRIMPOL-related condition	PMID:25741868
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:1115	sarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:1827	generalized epilepsy		ISO	RGD:13464400|RGD:13475427|RGD:13504397|RGD:13813829|RGD:150455722|RGD:15141971	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:25741868|PMID:28492532
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1320536	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120355	AVEN	apoptosis and caspase activation inhibitor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120370	PHF3	PHD finger protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1312646	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12120370	PHF3	PHD finger protein 3	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1312646	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:18976725|PMID:20237254|PMID:20333770|PMID:20537394|PMID:21069908|PMID:21179430|PMID:22302105|PMID:22363543|PMID:22581970|PMID:24033266|PMID:24474277|PMID:24652164|PMID:24938718|PMID:25097241|PMID:25133751|PMID:25324289|PMID:25356976|PMID:25366773|PMID:25741868|PMID:26161267|PMID:26261414|PMID:26667666|PMID:26787102|PMID:26872967|PMID:27208204|PMID:27658286|PMID:28041643|PMID:28492532|PMID:28704921|PMID:29068140|PMID:29159838|PMID:29550188|PMID:30337596|PMID:30543658|PMID:30718709|PMID:30804660|PMID:31054281|PMID:31074760|PMID:31087526|PMID:31213501|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31725169|PMID:31814702|PMID:31960602|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32675063|PMID:32728228|PMID:33090715|PMID:33247286|PMID:33576794|PMID:33691693|PMID:33749171|PMID:33833316|PMID:34178978|PMID:34315337|PMID:34327195|PMID:3442652|PMID:34426522|PMID:34689181|PMID:34795310|PMID:34906470|PMID:35672425|PMID:36460718|PMID:36729443|PMID:36764454|PMID:36819107|PMID:37544434|PMID:37798099
12120370	PHF3	PHD finger protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1312646	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12120370	PHF3	PHD finger protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120370	PHF3	PHD finger protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120370	PHF3	PHD finger protein 3	gene	DOID:1909	melanoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12120370	PHF3	PHD finger protein 3	gene	DOID:3275	thymoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120370	PHF3	PHD finger protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312646	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120370	PHF3	PHD finger protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12120370	PHF3	PHD finger protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312646	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12120370	PHF3	PHD finger protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12120370	PHF3	PHD finger protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120370	PHF3	PHD finger protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:1324	lung cancer		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:303	substance-related disorder		ISO	RGD:1350760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120407	AKAP7	A-kinase anchoring protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120440	KLK14	kallikrein related peptidase 14	gene	DOID:12336	male infertility		ISO	RGD:1318477	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Male infertility	
12120440	KLK14	kallikrein related peptidase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1318477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120440	KLK14	kallikrein related peptidase 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:12365	malaria		ISO	RGD:735426	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:12365	malaria	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:735426	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735426	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:9005036	Bacteremia		ISO	RGD:735426	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
12120453	CISH	cytokine inducible SH2 containing protein	gene	DOID:9005036	Bacteremia	susceptibility	ISO	RGD:735426	D	RGD:7240710	20190502	OMIM			
12120460	CCRL2	C-C motif chemokine receptor like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1323460	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12120460	CCRL2	C-C motif chemokine receptor like 2	gene	DOID:37	skin disease		ISO	RGD:1323460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12120460	CCRL2	C-C motif chemokine receptor like 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1323460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:10078	D	RGD:9068941	20260604	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:737613	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:9916847
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:0051019	visceral heterotaxy 4		ISO	RGD:737613	D	RGD:7240710	20180130	OMIM			
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:0051019	visceral heterotaxy 4		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACVR2B-related condition | ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 4, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal | ClinVar Annotator: match by term: heterotaxy, visceral, 4, autosomal	PMID:16199547|PMID:17576681|PMID:2049719|PMID:21864452|PMID:25741868|PMID:28492532|PMID:30120289|PMID:30622330|PMID:9536098|PMID:9916847
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:0060856	right atrial isomerism		ISO	RGD:10078	D	RGD:9068941	20220825	MouseDO		OMIM:208530	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:10591	pre-eclampsia		ISO	RGD:737613	D	RGD:9068941	20230622	RGD		protein:increased expression:placenta (human)	PMID:27176145|REF_RGD_ID:329853749
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:1115	sarcoma		ISO	RGD:737613	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:12347	osteogenesis imperfecta	treatment	ISO	RGD:10078	D	RGD:9068941	20230622	RGD			PMID:31419601|REF_RGD_ID:329853752
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:1324	lung cancer		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:10078	D	RGD:9068941	20230615	RGD		mRNA:increased expression:brain (mouse)	PMID:33763412|REF_RGD_ID:329849104
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:737613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:5844	myocardial infarction		ISO	RGD:10078	D	RGD:9068941	20230615	RGD		mRNA:decreased expression:myocardium (mouse)	PMID:32427381|REF_RGD_ID:329849118
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:737613	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:9916847
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9003676	Brain Hypoxia-Ischemia	severity	ISO	RGD:737613	D	RGD:9068941	20230615	RGD		mRNA, protein:increased expression:umbilical cord blood (human)	PMID:27957679|REF_RGD_ID:329849106
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9004205	Left-Right Axis Malformations		ISO	RGD:737613	D	RGD:9068941	20230615	RGD		DNA:missense mutation:exon 2:R40H (human)	PMID:9916847|REF_RGD_ID:329849115
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9004205	Left-Right Axis Malformations		ISO	RGD:737613	D	RGD:9068941	20230615	RGD		DNA:missense mutation:exon 2:c.119G>A,p.R40H (human)	PMID:21864452|REF_RGD_ID:329849116
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9004205	Left-Right Axis Malformations		ISO	RGD:737613	D	RGD:9068941	20230622	RGD		DNA:missense mutation:cds:p.R383C (human)	PMID:30622330|REF_RGD_ID:329853750
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:737613	D	RGD:9068941	20230427	RGD		human construct in rat model	PMID:27732750|REF_RGD_ID:329322881
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:737613	D	RGD:9068941	20230427	RGD		human construct in rat model	PMID:27732750|REF_RGD_ID:329322881
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9007659	Anthracycline-induced Cardiotoxicity	treatment	ISO	RGD:737613	D	RGD:9068941	20230615	RGD		human construct in mouse model	PMID:30765322|REF_RGD_ID:329849112
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:10078	D	RGD:9068941	20230615	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:30765322|REF_RGD_ID:329849112
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:737613	D	RGD:9068941	20230615	RGD		human construct in mouse model	PMID:30765322|REF_RGD_ID:329849112
12120485	ACVR2B	activin A receptor type 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12120500	ACP3	acid phosphatase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120500	ACP3	acid phosphatase 3	gene	DOID:10283	prostate cancer		ISO	RGD:736505	D	RGD:9068941	20200609	RGD			PMID:16024648|REF_RGD_ID:2301055
12120500	ACP3	acid phosphatase 3	gene	DOID:10283	prostate cancer		ISO	RGD:736506	D	RGD:9068941	20220825	MouseDO		OMIM:176807 | OMIM:300147 | OMIM:300704 | OMIM:601518 | OMIM:602759 | OMIM:608656 | OMIM:608658 | OMIM:609299 | OMIM:609558 | OMIM:610321 | OMIM:610997 | OMIM:611100 | OMIM:611868 | OMIM:611928 | OMIM:611955 | OMIM:611958 | OMIM:611959	
12120500	ACP3	acid phosphatase 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:736505	D	RGD:9068941	20200609	RGD		PSA/PAP (prostatic acid phosphatase) ratio - a valuable prognostic indicator in men with Stage IV prostate cancer	PMID:17991541|REF_RGD_ID:2301054
12120500	ACP3	acid phosphatase 3	gene	DOID:4362	cervical cancer		ISO	RGD:736505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120500	ACP3	acid phosphatase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120500	ACP3	acid phosphatase 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:736505	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12120500	ACP3	acid phosphatase 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736505	D	RGD:9068941	20200609	RGD		a positive cis-element in the promoter involved in regulating prostate cell-specific expression of the gene	PMID:15240830|REF_RGD_ID:2301052
12120500	ACP3	acid phosphatase 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736505	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1313101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12120520	RIPOR3	RIPOR family member 3	gene	DOID:10283	prostate cancer		ISO	RGD:1313101	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:3275	thymoma		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120520	RIPOR3	RIPOR family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:12783	migraine without aura		ISO	RGD:732182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22683712
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:1909	melanoma		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:2841	asthma		ISO	RGD:620762	D	RGD:9068941	20260409	RGD		mRNA, protein:decreased expression; respiratory system smooth muscle	PMID:27236325|REF_RGD_ID:645122506
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:3275	thymoma		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:4362	cervical cancer		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:6364	migraine		ISO	RGD:732182	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21666692
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120555	TRPM8	transient receptor potential cation channel subfamily M member 8	gene	DOID:9256	colorectal cancer		ISO	RGD:732182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:0060340	ciliopathy		ISO	RGD:1604747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:11193	syndactyly		ISO	RGD:1604747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30395363
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:1148	polydactyly		ISO	RGD:1332560	D	RGD:9068941	20220825	MouseDO		OMIM:174200 | OMIM:174500 | OMIM:174700 | OMIM:603596	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:7240710	20190315	OMIM			
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:9002200	Postaxial Polydactyly, Type A9		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly, postaxial, type A9	PMID:25741868
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:9003488	Postaxial Polydactyly, Type A1		ISO	RGD:1604747	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly type A	PMID:25741868
12120590	CIBAR1	CBY1 interacting BAR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:1115	sarcoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:1909	melanoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120615	ACOT11	acyl-CoA thioesterase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:10534	stomach cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:1115	sarcoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120641	LRRC42	leucine rich repeat containing 42	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605832	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120656	EXOC3L1	exocyst complex component 3 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:1115	sarcoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:14679	VACTERL association		ISO	RGD:69036	D	RGD:9068941	20220825	MouseDO		OMIM:192350 | OMIM:276950	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:303	substance-related disorder		ISO	RGD:69035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:69035	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120674	QSOX1	quiescin sulfhydryl oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:1324	lung cancer		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:1909	melanoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:3275	thymoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:4362	cervical cancer		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:5041	esophageal cancer		ISO	RGD:734056	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12120689	ARHGEF11	Rho guanine nucleotide exchange factor 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734056	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:1115	sarcoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:1826	epilepsy		ISO	RGD:1350450	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: epilepsy	PMID:25741868
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:3275	thymoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED		ISO	RGD:1350450	D	RGD:7240710	20180130	OMIM			
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:9008407	ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked | ClinVar Annotator: match by term: SRPX2-related condition	PMID:16497722|PMID:18718938|PMID:23352160|PMID:23831613|PMID:24995671|PMID:25741868|PMID:26467025|PMID:28492532
12120751	SRPX2	sushi repeat containing protein X-linked 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:10591	pre-eclampsia		ISO	RGD:1352969	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:34520790
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:3275	thymoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:4362	cervical cancer		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:6039	uveal melanoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120775	EIF3D	eukaryotic translation initiation factor 3 subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352969	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120794	FANCA	FA complementation group A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12120794	FANCA	FA complementation group A	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1322810	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:25741868
12120794	FANCA	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:7240710	20181219	OMIM			
12120794	FANCA	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25741905|PMID:25741913|PMID:25741916|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33332384|PMID:33482836|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:08896563|PMID:08896564|PMID:09371798|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19109555|PMID:19139070|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:20301575|PMID:20435624|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26833332|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29753700|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31130284|PMID:31192125|PMID:31259830|PMID:31263571|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33850299|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35854323|PMID:35884425|PMID:36451132|PMID:36463940|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:6720839|PMID:8896563|PMID:8896564|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCA-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Fanconi anemia complementation group A | ClinVar Annotator: match by term: Fanconi anemia, complementation group A | ClinVar Annotator: match by term: Fanconi anemia, group A	PMID:08896563|PMID:08896564|PMID:09399890|PMID:09721219|PMID:10090479|PMID:10094191|PMID:10521298|PMID:10862090|PMID:11344308|PMID:11739169|PMID:12444097|PMID:12955722|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16084127|PMID:16199547|PMID:16397136|PMID:16720839|PMID:17327415|PMID:17576681|PMID:1792455|PMID:17924555|PMID:19278965|PMID:19367192|PMID:20435624|PMID:21273304|PMID:21659346|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:2339692|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23973728|PMID:24037726|PMID:24584348|PMID:2472832|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25741868|PMID:25953249|PMID:26467025|PMID:26689913|PMID:26799702|PMID:27041517|PMID:27701467|PMID:28102861|PMID:28104920|PMID:28215707|PMID:28492532|PMID:28623394|PMID:28678401|PMID:29098742|PMID:29269525|PMID:29621589|PMID:29625052|PMID:30031030|PMID:30792206|PMID:31130284|PMID:31558676|PMID:31586946|PMID:31589614|PMID:32235514|PMID:32487094|PMID:32546565|PMID:32793304|PMID:32947577|PMID:33224012|PMID:33482836|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34480478|PMID:34585473|PMID:34754157|PMID:34906502|PMID:35417938|PMID:36894310|PMID:37276838|PMID:39643631|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:10534	stomach cancer		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120794	FANCA	FA complementation group A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120794	FANCA	FA complementation group A	gene	DOID:1115	sarcoma		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120794	FANCA	FA complementation group A	gene	DOID:1324	lung cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer, somatic	
12120794	FANCA	FA complementation group A	gene	DOID:1324	lung cancer		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31192125|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31721781|PMID:32098966|PMID:33172906|PMID:33224012|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:31030435|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27997549|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:29093742|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33172906|PMID:33224012|PMID:33679882|PMID:33686268|PMID:33718801|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30792206|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31655866|PMID:31721781|PMID:32098966|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33172906|PMID:33224012|PMID:33482836|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34250406|PMID:34422195|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34864095|PMID:34906502|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24349332|PMID:24584348|PMID:24689079|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33883933|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25741905|PMID:25741916|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35314707|PMID:35348533|PMID:35655404|PMID:37349538|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24121791|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31203817|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33762291|PMID:33850299|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35739269|PMID:35884425|PMID:36451132|PMID:36463940|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10373536|PMID:10521298|PMID:10807541|PMID:10862090|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15591268|PMID:15609317|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16116422|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16611311|PMID:16720839|PMID:16774934|PMID:16946016|PMID:17327415|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:18414213|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20301575|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:23960188|PMID:23973728|PMID:24037726|PMID:24082139|PMID:24121791|PMID:24123366|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24728327|PMID:24793135|PMID:24824029|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25288723|PMID:25525159|PMID:25533962|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26110843|PMID:26136524|PMID:26140431|PMID:26181256|PMID:26201965|PMID:26296701|PMID:26336887|PMID:26467025|PMID:26492932|PMID:26556299|PMID:26580448|PMID:26689913|PMID:26740942|PMID:26799702|PMID:26841305|PMID:27041517|PMID:27148581|PMID:27153395|PMID:27224906|PMID:27577878|PMID:27701467|PMID:27733357|PMID:27997549|PMID:28060124|PMID:28102861|PMID:28104920|PMID:28202063|PMID:28215707|PMID:28239445|PMID:28259476|PMID:28492532|PMID:28600779|PMID:28623394|PMID:28678401|PMID:28687356|PMID:28690869|PMID:28717660|PMID:28717661|PMID:28767289|PMID:28864460|PMID:28870985|PMID:28873162|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29338072|PMID:29621589|PMID:29625052|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29779353|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30032139|PMID:30050716|PMID:30057198|PMID:30086788|PMID:30134342|PMID:30192042|PMID:30268473|PMID:30306255|PMID:30541756|PMID:30709382|PMID:30792206|PMID:30809872|PMID:30836094|PMID:30919572|PMID:31030435|PMID:31102422|PMID:31192125|PMID:31203817|PMID:31248416|PMID:31259830|PMID:31395037|PMID:31432501|PMID:31543367|PMID:31558676|PMID:31586946|PMID:31589614|PMID:31613886|PMID:31655866|PMID:31698007|PMID:31721781|PMID:31874108|PMID:31911633|PMID:32002546|PMID:32098966|PMID:32107087|PMID:32235514|PMID:32268276|PMID:32487094|PMID:32546565|PMID:32659497|PMID:32659967|PMID:32793304|PMID:32799124|PMID:32850347|PMID:32903519|PMID:32947577|PMID:33020649|PMID:33088445|PMID:33172906|PMID:33224011|PMID:33224012|PMID:33314633|PMID:33332384|PMID:33482836|PMID:33556149|PMID:33558524|PMID:33679882|PMID:33686268|PMID:33718801|PMID:33850299|PMID:33883933|PMID:33960719|PMID:34008892|PMID:34130653|PMID:34173971|PMID:34250406|PMID:34308366|PMID:34422195|PMID:34426522|PMID:34480478|PMID:34512202|PMID:34573280|PMID:34585473|PMID:34598035|PMID:34741701|PMID:34754157|PMID:34864095|PMID:34902740|PMID:34906502|PMID:35171259|PMID:35273153|PMID:35314707|PMID:35348533|PMID:35417938|PMID:35655404|PMID:35739269|PMID:35854323|PMID:35884425|PMID:36385762|PMID:36451132|PMID:36463940|PMID:36513378|PMID:36863698|PMID:36894310|PMID:36898365|PMID:37349538|PMID:38779778|PMID:39256447|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9721219|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi Anemia | ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:08896563|PMID:09371798|PMID:09399890|PMID:10090479|PMID:10094191|PMID:10210316|PMID:10373536|PMID:10521298|PMID:10807541|PMID:11050007|PMID:11063725|PMID:11091222|PMID:11344308|PMID:11739169|PMID:12031647|PMID:12444097|PMID:12697994|PMID:1273304|PMID:12827451|PMID:12955722|PMID:14695169|PMID:15059067|PMID:15516848|PMID:15522956|PMID:15523645|PMID:15643609|PMID:16015582|PMID:16084127|PMID:16199547|PMID:16397136|PMID:16445838|PMID:16532972|PMID:16720839|PMID:16946016|PMID:17576681|PMID:17726045|PMID:1792455|PMID:17924555|PMID:1927896|PMID:19278965|PMID:19367192|PMID:19423727|PMID:19763152|PMID:20307669|PMID:21236561|PMID:21273304|PMID:21279724|PMID:21519011|PMID:21520333|PMID:21659346|PMID:22178060|PMID:22406018|PMID:22720145|PMID:22778927|PMID:22950077|PMID:23021409|PMID:23067021|PMID:23613520|PMID:23806870|PMID:23898106|PMID:23934222|PMID:24037726|PMID:24343878|PMID:24349332|PMID:24584348|PMID:24689079|PMID:24704046|PMID:2472832|PMID:24989076|PMID:25168418|PMID:25239263|PMID:25525159|PMID:25583207|PMID:25640679|PMID:25703136|PMID:25741868|PMID:25751062|PMID:25953249|PMID:26136524|PMID:26467025|PMID:26556299|PMID:26689913|PMID:26701949|PMID:26740942|PMID:26799702|PMID:26832770|PMID:26841305|PMID:27041517|PMID:27418648|PMID:28102861|PMID:28104920|PMID:28215707|PMID:28492532|PMID:28623394|PMID:28687356|PMID:28690869|PMID:28717661|PMID:28864460|PMID:28870985|PMID:28973083|PMID:28975465|PMID:29093742|PMID:29098741|PMID:29098742|PMID:29247345|PMID:29269525|PMID:29621589|PMID:29641532|PMID:29702541|PMID:29753700|PMID:29797310|PMID:29904161|PMID:29976742|PMID:30031030|PMID:30057198|PMID:30086788|PMID:30792206|PMID:31203817|PMID:31259830|PMID:31395037|PMID:31558676|PMID:31586946|PMID:31589614|PMID:32002546|PMID:32098966|PMID:32235514|PMID:32487094|PMID:32546565|PMID:32620917|PMID:32850347|PMID:32947577|PMID:33088445|PMID:33224011|PMID:33224012|PMID:33394227|PMID:33482836|PMID:33679882|PMID:33718801|PMID:33883933|PMID:33960719|PMID:34250406|PMID:34422195|PMID:34573280|PMID:34585473|PMID:34906502|PMID:35101336|PMID:35171259|PMID:35295078|PMID:35314707|PMID:35366911|PMID:35417938|PMID:35776903|PMID:35854323|PMID:35884425|PMID:35988656|PMID:36135330|PMID:36167633|PMID:36385762|PMID:36451132|PMID:36463940|PMID:36513378|PMID:36744932|PMID:3689431|PMID:36894310|PMID:37216690|PMID:37349538|PMID:37547463|PMID:37865086|PMID:37934348|PMID:38191666|PMID:38740980|PMID:39252317|PMID:40206918|PMID:8896563|PMID:9371789|PMID:9371798|PMID:9399890|PMID:9536098|PMID:9711872|PMID:9929978
12120794	FANCA	FA complementation group A	gene	DOID:13636	Fanconi anemia	disease_progression	ISO	RGD:1322810	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:11110674|REF_RGD_ID:11344914
12120794	FANCA	FA complementation group A	gene	DOID:1612	breast cancer		ISO	RGD:1322810	D	RGD:9068941	20260521	RGD		DNA:missense mutations, SNP:exon, 5' utr:p.T266A (c.796A>G, rs7190823), p.G501S (c.1501G>A, rs2239359), c.-1C>A (human)	PMID:23021409|REF_RGD_ID:11344892
12120794	FANCA	FA complementation group A	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322810	D	RGD:9068941	20200609	RGD		DNA,Protein:polymorphisms:exons:c.377C>G, c.661A>G (human)	PMID:15591268|REF_RGD_ID:2317735
12120794	FANCA	FA complementation group A	gene	DOID:1909	melanoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:2018	hyperinsulinism		ISO	RGD:1322810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22482891
12120794	FANCA	FA complementation group A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322810	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:22950077|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29621589|PMID:34754157
12120794	FANCA	FA complementation group A	gene	DOID:2394	ovarian cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12120794	FANCA	FA complementation group A	gene	DOID:3275	thymoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120794	FANCA	FA complementation group A	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1322810	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.S858R (human)	PMID:21279724|REF_RGD_ID:11344913
12120794	FANCA	FA complementation group A	gene	DOID:4362	cervical cancer		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120794	FANCA	FA complementation group A	gene	DOID:4362	cervical cancer	no_association	ISO	RGD:1322810	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11649196 (human)	PMID:21543111|REF_RGD_ID:11344901
12120794	FANCA	FA complementation group A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12120794	FANCA	FA complementation group A	gene	DOID:4961	bone marrow disease		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:15643609|PMID:16084127|PMID:19367192|PMID:21659346|PMID:25741868|PMID:28492532|PMID:29098742
12120794	FANCA	FA complementation group A	gene	DOID:5041	esophageal cancer		ISO	RGD:1322810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120794	FANCA	FA complementation group A	gene	DOID:5223	infertility		ISO	RGD:1322811	D	RGD:9068941	20200609	RGD		associated with Hypogonadism	PMID:10915769|REF_RGD_ID:11344895
12120794	FANCA	FA complementation group A	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322810	D	RGD:9068941	20260521	RGD		DNA:SNPs, haplotypes: :multiple	PMID:24045675|REF_RGD_ID:11344888
12120794	FANCA	FA complementation group A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12120794	FANCA	FA complementation group A	gene	DOID:630	genetic disease		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14695169|PMID:15643609|PMID:21279724|PMID:23021409|PMID:24728327|PMID:25741868|PMID:26201965|PMID:26467025|PMID:27224906|PMID:28492532|PMID:30306255|PMID:30709382|PMID:30792206|PMID:32235514|PMID:32546565|PMID:39256447|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:630	genetic disease		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30792206
12120794	FANCA	FA complementation group A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:7998	hyperthyroidism		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:28492532
12120794	FANCA	FA complementation group A	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1322810	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs62068372 (human)	PMID:25243787|REF_RGD_ID:11344896
12120794	FANCA	FA complementation group A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12120794	FANCA	FA complementation group A	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1322810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12120794	FANCA	FA complementation group A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12120794	FANCA	FA complementation group A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120794	FANCA	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:25741868|PMID:28492532
12120794	FANCA	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:24584348|PMID:25741868|PMID:28492532|PMID:9399890
12120794	FANCA	FA complementation group A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322810	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17924555|PMID:19367192|PMID:21273304|PMID:24584348|PMID:25741868|PMID:28492532|PMID:9399890
12120794	FANCA	FA complementation group A	gene	DOID:9007661	Dwarfism		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12120794	FANCA	FA complementation group A	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1322811	D	RGD:9068941	20200609	RGD			PMID:22482891|REF_RGD_ID:11046266
12120794	FANCA	FA complementation group A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120794	FANCA	FA complementation group A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
12120794	FANCA	FA complementation group A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15643609|PMID:23806870|PMID:2472832|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9371798
12120794	FANCA	FA complementation group A	gene	DOID:9834	hyperopia		ISO	RGD:1322810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:26467025|PMID:28492532
12120794	FANCA	FA complementation group A	gene	DOID:9970	obesity		ISO	RGD:1322811	D	RGD:9068941	20200609	RGD			PMID:22482891|REF_RGD_ID:11046266
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:3275	thymoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:4362	cervical cancer		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120867	MORC3	MORC family CW-type zinc finger 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120891	PTX4	pentraxin 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1605189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12120906	TRADD	TNFRSF1A associated via death domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120906	TRADD	TNFRSF1A associated via death domain	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:621313	D	RGD:9068941	20200609	RGD			PMID:23423194|REF_RGD_ID:8661760
12120906	TRADD	TNFRSF1A associated via death domain	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:621313	D	RGD:9068941	20200609	RGD		protein:increased expression: retina	PMID:18552980|REF_RGD_ID:7794683
12120906	TRADD	TNFRSF1A associated via death domain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120906	TRADD	TNFRSF1A associated via death domain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120922	TMEM52B	transmembrane protein 52B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120922	TMEM52B	transmembrane protein 52B	gene	DOID:4362	cervical cancer		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120922	TMEM52B	transmembrane protein 52B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120935	NINJ2	ninjurin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12120935	NINJ2	ninjurin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1316037	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316037	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12120954	R3HDM4	R3H domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316037	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1345460	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345460	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120967	SPOCD1	SPOC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:289	endometriosis		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:5408	Paget disease of bone		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21623375
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:670	amphetamine abuse		ISO	RGD:1321334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12120995	DCSTAMP	dendrocyte expressed seven transmembrane protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1321334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12121005	SMIM1	small integral membrane protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:6767479	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121005	SMIM1	small integral membrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:6767479	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		ISO	RGD:733877	D	RGD:7240710	20180130	OMIM			
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0061186	long chain 3-hydroxyacyl-CoA dehydrogenase deficiency		ISO	RGD:733877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase | ClinVar Annotator: match by term: LCHAD DEFICIENCY | ClinVar Annotator: match by term: LCHAD Deficiency | ClinVar Annotator: match by term: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	PMID:10352164|PMID:11243734|PMID:12237653|PMID:12809642|PMID:14630990|PMID:14694500|PMID:15902556|PMID:16040264|PMID:16199547|PMID:17576681|PMID:19433283|PMID:19852779|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23596069|PMID:23798014|PMID:23868323|PMID:25087612|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29124685|PMID:29268767|PMID:30682426|PMID:32253025|PMID:32337335|PMID:32778825|PMID:33123633|PMID:33610471|PMID:33638202|PMID:34578803|PMID:34878152|PMID:35281663|PMID:37184518|PMID:37549033|PMID:38263760|PMID:38623632|PMID:39088276|PMID:39210374|PMID:39687448|PMID:7738175|PMID:9536098|PMID:9739053
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0070619	mitochondrial trifunctional protein deficiency 1		ISO	RGD:733877	D	RGD:7240710	20230505	OMIM			
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0070619	mitochondrial trifunctional protein deficiency 1		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency 1 with myopathy and neuropathy	PMID:10352164|PMID:17576681|PMID:19433283|PMID:21549624|PMID:22065858|PMID:23596069|PMID:23868323|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29268767|PMID:32253025|PMID:32337335|PMID:33123633|PMID:33610471|PMID:34578803|PMID:34878152|PMID:7738175|PMID:9536098|PMID:9739053
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:620512	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:24782632|REF_RGD_ID:14694831
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0080600	COVID-19		ISO	RGD:733877	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:0111277	mitochondrial trifunctional protein deficiency		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HADHA-related condition | ClinVar Annotator: match by term: Mitochondrial trifunctional protein deficiency	PMID:10352164|PMID:12237653|PMID:12809642|PMID:14630990|PMID:16040264|PMID:17576681|PMID:19433283|PMID:21103935|PMID:21549624|PMID:22065858|PMID:22459206|PMID:23596069|PMID:23868323|PMID:25525159|PMID:25741868|PMID:26109258|PMID:27491397|PMID:28492532|PMID:29268767|PMID:32253025|PMID:32337335|PMID:33123633|PMID:33610471|PMID:34578803|PMID:34878152|PMID:7738175|PMID:9536098|PMID:9739053
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733877	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:25260493|REF_RGD_ID:10047114
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:423	myopathy		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:7319	axonal neuropathy		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensory axonal neuropathy	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9000053	Headache		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Headache	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9001109	Anorexia		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anorexia	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9001733	Tinnitus		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620512	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:11124150|REF_RGD_ID:1599884
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9003760	Myalgia		ISO	RGD:733877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:10352164|PMID:12237653|PMID:12809642|PMID:16040264|PMID:21103935|PMID:21549624|PMID:22459206|PMID:25741868|PMID:27491397|PMID:28492532|PMID:7738175
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1552757	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:25260493|REF_RGD_ID:10047114
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12121019	HADHA	hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha	gene	DOID:9452	steatotic liver disease		ISO	RGD:733877	D	RGD:9068941	20200609	RGD		DNA:point mutations: ;1132C>T,1528G>C;LCHAD deficiency,OMIM:609015	PMID:7846063|REF_RGD_ID:1599882
12121048	SOSTDC1	sclerostin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121048	SOSTDC1	sclerostin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2292121	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:9002704	Leukoencephalopathies		IAGP		D	RGD:12801476	20250113	OMIA		Hypomyelination of the central nervous system	PMID:20973788|PMID:3577694|PMID:24272703|PMID:731520|PMID:676669|PMID:7315204|PMID:38003185
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121120	FNIP2	folliculin interacting protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292121	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:10534	stomach cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:1324	lung cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:734363	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:15688370|REF_RGD_ID:2325200
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:1909	melanoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:2394	ovarian cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:3070	high grade glioma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:3275	thymoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:4362	cervical cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:734363	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:734363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:70913	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain, neuron	PMID:16997484|REF_RGD_ID:2301088
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:734363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12121151	ABCC5	ATP binding cassette subfamily C member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121201	CLEC2L	C-type lectin domain family 2 member L	gene	DOID:3275	thymoma		ISO	RGD:1351189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:1909	melanoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121228	MFAP4	microfibril associated protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121228	MFAP4	microfibril associated protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317270	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:10534	stomach cancer		ISO	RGD:1602459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:1909	melanoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:5041	esophageal cancer		ISO	RGD:1602459	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121238	DENND2D	DENN domain containing 2D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:0112151	corpus callosum agenesis-abnormal genitalia syndrome		ISO	RGD:1320039	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis-abnormal genitalia syndrome	PMID:25741868
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:10534	stomach cancer		ISO	RGD:1320039	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:1115	sarcoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1320039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121254	SMG6	SMG6 nonsense mediated mRNA decay factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0050571	congenital disorder of glycosylation type II		ISO	RGD:733467	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CDG Ii	PMID:25741868|PMID:28492532
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0050873	follicular lymphoma		ISO	RGD:733467	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26691987
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0080561	congenital disorder of glycosylation Ii		ISO	RGD:733467	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CDG Ii	PMID:25741868|PMID:28492532
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0112002	immunodeficiency 47		ISO	RGD:733467	D	RGD:7240710	20190315	OMIM			
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:0112002	immunodeficiency 47		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATP6AP1-related disorder | ClinVar Annotator: match by term: IMMUNODEFICIENCY 47 | ClinVar Annotator: match by term: Immunodeficiency 47	PMID:25741868|PMID:27231034|PMID:28492532|PMID:28688840|PMID:29396028|PMID:34621841|PMID:35379322|PMID:36651831
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:1324	lung cancer		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:1909	melanoma		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9006095	Ascites		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ascites	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9007075	Congenital Prothrombin Deficiency		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Prolonged prothrombin time	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28492532
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121286	ATP6AP1	ATPase H+ transporting accessory protein 1	gene	DOID:9938	dacryocystitis		ISO	RGD:733467	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dacryocystitis	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:0080600	COVID-19		ISO	RGD:2292108	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121300	HJURP	Holliday junction recognition protein	gene	DOID:10534	stomach cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:1324	lung cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:1909	melanoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:4362	cervical cancer		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:5041	esophageal cancer		ISO	RGD:2292108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12121300	HJURP	Holliday junction recognition protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121300	HJURP	Holliday junction recognition protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2292108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:0060321	umbilical hernia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:0070139	autosomal recessive cutis laxa type IC		ISO	RGD:1315988	D	RGD:7240710	20180130	OMIM			
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:0070139	autosomal recessive cutis laxa type IC		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC | ClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type IC | ClinVar Annotator: match by term: LTBP4-related condition	PMID:16199547|PMID:19836010|PMID:22829427|PMID:24033266|PMID:25741868|PMID:25882708|PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:0080600	COVID-19		ISO	RGD:1315988	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:11111	hydronephrosis		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:114	heart disease		ISO	RGD:1315989	D	RGD:9068941	20200609	RGD			PMID:12208849|REF_RGD_ID:1582112
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:11830	myopia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:12642	hiatus hernia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:12849	autistic disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:13620	patent foramen ovale		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1596	depressive disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1891	optic nerve disease		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:2030	anxiety disorder		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:2841	asthma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3068	glioblastoma		ISO	RGD:1315988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270107
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3087	gingivitis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3144	cutis laxa		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3275	thymoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315988	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:552	pneumonia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9001733	Tinnitus		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9003126	Hallucinations		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9003539	Hyperacusis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1315988	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27270107
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9005077	Joint Instability		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9007366	Pulmonary Artery Stenosis		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary artery stenosis	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9007736	Vertigo		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9008023	Memory Disorders		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19836010|PMID:22829427|PMID:25741868|PMID:28492532|PMID:31273557
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9008811	Tachypnea		ISO	RGD:1315988	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9834	hyperopia		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12121337	LTBP4	latent transforming growth factor beta binding protein 4	gene	DOID:9970	obesity		ISO	RGD:1315988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1319498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28434932
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:1205	allergic disease		ISO	RGD:1319498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:1324	lung cancer		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:1909	melanoma		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:2316	brain ischemia		ISO	RGD:1319498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:2377	multiple sclerosis		ISO	RGD:1353724	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron, 3' utr:c.77-105T>C, c.*856T>C (rs159313, rs2072070) (human)	PMID:19865101|REF_RGD_ID:4145472
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:552	pneumonia		ISO	RGD:1319498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319498	D	RGD:9068941	20210423	RGD		mRNA:increased expression:liver (mouse)	PMID:26569409|REF_RGD_ID:11344640
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1309255	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:9698165|REF_RGD_ID:5135274
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1319498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12388339
12121376	CCL13	chemokine (C-C motif) ligand 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:0080600	COVID-19		ISO	RGD:732759	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732759	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121381	PSMB2	proteasome 20S subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:0060058	lymphoma		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322551	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121394	H2AZ2	H2A.Z variant histone 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:1115	sarcoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:1909	melanoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:3275	thymoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121395	PAFAH2	platelet activating factor acetylhydrolase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121430	LY86	lymphocyte antigen 86	gene	DOID:182	calcinosis		ISO	RGD:1320546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12121430	LY86	lymphocyte antigen 86	gene	DOID:4079	heart valve disease		ISO	RGD:1320546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12121430	LY86	lymphocyte antigen 86	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121430	LY86	lymphocyte antigen 86	gene	DOID:5041	esophageal cancer		ISO	RGD:1320546	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121430	LY86	lymphocyte antigen 86	gene	DOID:9000998	Brain Injuries		ISO	RGD:1320546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
12121430	LY86	lymphocyte antigen 86	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1320546	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121430	LY86	lymphocyte antigen 86	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12121430	LY86	lymphocyte antigen 86	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:1059	intellectual disability		ISO	RGD:1319083	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability syndrome	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:1115	sarcoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:1909	melanoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319083	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121439	DDX10	DEAD-box helicase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1346323	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1346323	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1346323	D	RGD:9068941	20250206	RGD		DNA:SNPs::rs6526342,rs3764885	PMID:21152090|REF_RGD_ID:597621635
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1346323	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:3324	mood disorder		ISO	RGD:1346323	D	RGD:9068941	20250206	RGD		DNA:SNPs::rs6526342,rs3764885	PMID:21152090|REF_RGD_ID:597621635
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121465	SAT1	spermidine/spermine N1-acetyltransferase 1	gene	DOID:9970	obesity		ISO	RGD:1346323	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12121480	PLAAT4	phospholipase A and acyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121480	PLAAT4	phospholipase A and acyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121480	PLAAT4	phospholipase A and acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12121488	DCC	DCC netrin 1 receptor	gene	DOID:0070636	mirror movements 1		ISO	RGD:731288	D	RGD:7240710	20180130	OMIM			
12121488	DCC	DCC netrin 1 receptor	gene	DOID:0070636	mirror movements 1		ISO	RGD:731288	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL SPLIT-BRAIN SYNDROME | ClinVar Annotator: match by term: Developmental Split Brain Syndrome | ClinVar Annotator: match by term: MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM | ClinVar Annotator: match by term: Mirror movements 1 | ClinVar Annotator: match by term: Mirror movements 1 and/or agenesis of the corpus callosum | ClinVar Annotator: match by term: Mirror movements, congenital | ClinVar Annotator: match by term: mirror movements 1 and/or agenesis of the corpus callosum	PMID:20431009|PMID:21242494|PMID:24808016|PMID:25741868|PMID:25763452|PMID:28250456|PMID:28492532|PMID:31697046|PMID:32060908|PMID:33141514|PMID:34974531|PMID:38314870
12121488	DCC	DCC netrin 1 receptor	gene	DOID:10534	stomach cancer		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:731288	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:28250456
12121488	DCC	DCC netrin 1 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:1107	esophageal carcinoma		ISO	RGD:731288	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL CARCINOMA, SOMATIC	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:1115	sarcoma		ISO	RGD:731288	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:1324	lung cancer		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:13938	amenorrhea		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
12121488	DCC	DCC netrin 1 receptor	gene	DOID:1909	melanoma		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:731288	D	RGD:7240710	20240207	OMIM			
12121488	DCC	DCC netrin 1 receptor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:4362	cervical cancer		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:731288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:630	genetic disease		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28250454|PMID:39117575
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2492	D	RGD:9068941	20200609	RGD			PMID:16998900|REF_RGD_ID:2314373
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:731288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9001668	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2		ISO	RGD:731288	D	RGD:7240710	20190315	OMIM			
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9001668	Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2		ISO	RGD:731288	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Gaze palsy, familial horizontal, with progressive scoliosis, 2	PMID:25741868|PMID:28250456|PMID:28492532
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum | ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:21681106|PMID:24808016|PMID:25741868|PMID:25763452|PMID:28250454|PMID:29366874|PMID:31589614|PMID:31697046|PMID:33141514|PMID:33871356|PMID:35246524|PMID:36123965
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9003733	Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency		ISO	RGD:731288	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP21 deficiency	PMID:24808016
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2492	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:17574219|REF_RGD_ID:2314372
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9004787	Familial Horizontal Gaze Palsy with Progressive Scoliosis		ISO	RGD:731288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28250456
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2492	D	RGD:9068941	20200609	RGD			PMID:16337279|REF_RGD_ID:2314374
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:731288	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:25741868
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:731288	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15365072
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:731288	D	RGD:7240710	20200226	OMIM			
12121488	DCC	DCC netrin 1 receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:731288	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12121525	TMED1	transmembrane p24 trafficking protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121525	TMED1	transmembrane p24 trafficking protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121525	TMED1	transmembrane p24 trafficking protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121525	TMED1	transmembrane p24 trafficking protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121525	TMED1	transmembrane p24 trafficking protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121536	AMOTL2	angiomotin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121536	AMOTL2	angiomotin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121536	AMOTL2	angiomotin like 2	gene	DOID:2394	ovarian cancer		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12121536	AMOTL2	angiomotin like 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12121536	AMOTL2	angiomotin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121536	AMOTL2	angiomotin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121552	SNPH	syntaphilin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121552	SNPH	syntaphilin	gene	DOID:10534	stomach cancer		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121552	SNPH	syntaphilin	gene	DOID:1324	lung cancer		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121552	SNPH	syntaphilin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121552	SNPH	syntaphilin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121552	SNPH	syntaphilin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:68438	D	RGD:9068941	20231026	RGD		mRNA:decreased expression:ventral tegmental area	PMID:29678771|REF_RGD_ID:401851055
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:68438	D	RGD:9068941	20250619	RGD			PMID:24169802|REF_RGD_ID:616572753
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:0050741	alcohol dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027224
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:68657	D	RGD:9068941	20231012	RGD		mRNA:increased expression:blood	PMID:30519864|REF_RGD_ID:401831039
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:11206	opioid abuse		ISO	RGD:1550574	D	RGD:9068941	20231111	RGD		mRNA:increased expression:ventral striatum	PMID:30059705|REF_RGD_ID:401900306
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:15862535|REF_RGD_ID:9835022
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:11814626|REF_RGD_ID:9835016
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:2560	morphine dependence		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11027224
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:809	cocaine abuse		ISO	RGD:68438	D	RGD:9068941	20250710	RGD			PMID:23219985|REF_RGD_ID:617148291
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16995444
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9000831	Hypokinesia		ISO	RGD:68657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20950413
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9001109	Anorexia	treatment	ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:11981590|REF_RGD_ID:9835031
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9001131	stress-related disorder	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250626	RGD			PMID:11981590|REF_RGD_ID:9835031
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		protein:decreased expression:hypothalamus:	PMID:11931711|REF_RGD_ID:9835019
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:68438	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;mRNA:increased expression:spinal cord lumbar segment,dorsal root ganglion:	PMID:12106803|REF_RGD_ID:9835017
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:68438	D	RGD:9068941	20200609	RGD			PMID:9669488|PMID:9808678|REF_RGD_ID:9831410|REF_RGD_ID:9835033
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:68438	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: altered expression:amygdala, bed nucleus of stria terminalis	PMID:33671048|REF_RGD_ID:616390065
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9006302	Binge Drinking		ISO	RGD:68657	D	RGD:9068941	20200609	RGD			PMID:29197086|REF_RGD_ID:14348965
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9975	cocaine dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9976	heroin dependence	ameliorates	ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ outbred control rats	PMID:27562376|REF_RGD_ID:616572759
12121577	OPRL1	opioid related nociceptin receptor 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:68657	D	RGD:9068941	20250220	RGD		DNA:SNP: :rs2229205	PMID:32481444|REF_RGD_ID:597805904
12121577	Oprl1	opioid related nociceptin receptor 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:68438	D	RGD:9068941	20250619	RGD		compared to Wistar Han NOP+/+ control rats	PMID:34854073|REF_RGD_ID:616572755
12121591	SDS	serine dehydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121591	SDS	serine dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121591	SDS	serine dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121591	SDS	serine dehydratase	gene	DOID:1324	lung cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121591	SDS	serine dehydratase	gene	DOID:4362	cervical cancer		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121591	SDS	serine dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121591	SDS	serine dehydratase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121591	SDS	serine dehydratase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734053	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121598	ZRANB1	zinc finger RANBP2-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121598	ZRANB1	zinc finger RANBP2-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121598	ZRANB1	zinc finger RANBP2-type containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121598	ZRANB1	zinc finger RANBP2-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121598	ZRANB1	zinc finger RANBP2-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318817	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:0080600	COVID-19		ISO	RGD:2300032	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:3275	thymoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121612	FAM169A	family with sequence similarity 169 member A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2300032	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121633	MATN1	matrilin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121633	MATN1	matrilin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12121633	MATN1	matrilin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352772	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121633	MATN1	matrilin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352772	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12121645	PPCDC	phosphopantothenoylcysteine decarboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121645	PPCDC	phosphopantothenoylcysteine decarboxylase	gene	DOID:1115	sarcoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121645	PPCDC	phosphopantothenoylcysteine decarboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121645	PPCDC	phosphopantothenoylcysteine decarboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121645	PPCDC	phosphopantothenoylcysteine decarboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121665	AHRR	aryl hydrocarbon receptor repressor	gene	DOID:10763	hypertension	treatment	ISO	RGD:1559857	D	RGD:9068941	20230824	RGD			PMID:30127255|PMID:31489946|REF_RGD_ID:401793709|REF_RGD_ID:401793758
12121665	AHRR	aryl hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:1559857	D	RGD:9068941	20230812	RGD		associated with hypertension	PMID:30127255|REF_RGD_ID:401793709
12121665	AHRR	aryl hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:1559857	D	RGD:9068941	20230817	RGD		associated with maternal adenine induced chronic kidney disease	PMID:32604820|REF_RGD_ID:401793718
12121665	AHRR	aryl hydrocarbon receptor repressor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:1559857	D	RGD:9068941	20230824	RGD			PMID:31489946|REF_RGD_ID:401793758
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121678	SFT2D2	SFT2 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121728	ACRV1	acrosomal vesicle protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351105	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12121736	CCR10	C-C motif chemokine receptor 10	gene	DOID:1824	status epilepticus		ISO	RGD:1606584	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17181556
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:10534	stomach cancer		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:4362	cervical cancer		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318142	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
12121745	NOP9	NOP9 nucleolar protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:0080600	COVID-19		ISO	RGD:1319257	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1309104	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121764	C7H1orf21	chromosome 7 C1orf21 homolog	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12121775	PEF1	penta-EF-hand domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1605152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:3275	thymoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350551	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121791	DNAJC24	DnaJ heat shock protein family (Hsp40) member C24	gene	DOID:9256	colorectal cancer		ISO	RGD:1350551	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:736541	D	RGD:7240710	20180130	OMIM			
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:736541	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu | ClinVar Annotator: match by term: DPM2-related condition	PMID:23109149|PMID:25741868|PMID:28492532|PMID:33129689
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:1909	melanoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:3275	thymoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121812	DPM2	dolichyl-phosphate mannosyltransferase subunit 2, regulatory	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12121827	SPINT4	serine peptidase inhibitor, Kunitz type 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1603467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121843	XKR8	XK related 8	gene	DOID:1324	lung cancer		ISO	RGD:1602706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121843	XKR8	XK related 8	gene	DOID:3275	thymoma		ISO	RGD:1602706	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323388	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121850	ARRDC4	arrestin domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323388	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12121862	CALHM2	calcium homeostasis modulator family member 2	gene	DOID:1307	dementia		ISO	RGD:1317958	D	RGD:9068941	20250724	MouseDO			
12121862	CALHM2	calcium homeostasis modulator family member 2	gene	DOID:1596	depressive disorder		ISO	RGD:1317958	D	RGD:9068941	20250724	MouseDO			
12121862	CALHM2	calcium homeostasis modulator family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12121862	CALHM2	calcium homeostasis modulator family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121862	CALHM2	calcium homeostasis modulator family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2162	D	RGD:9068941	20200609	RGD		protein:increased activity:serum (rat)	PMID:10081|REF_RGD_ID:2316006
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:8466	retinal degeneration		ISO	RGD:2162	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:9002524	Asparagine Synthetase Deficiency		ISO	RGD:1343754	D	RGD:7240710	20180130	OMIM			
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:2162	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1343754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12121940	ASNS	asparagine synthetase (glutamine-hydrolyzing)	gene	DOID:9455	lipid storage disease		ISO	RGD:1343754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17175557
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:151790784	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:28492532|PMID:29845577
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:0060058	lymphoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1313054	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313054	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12121962	PBXIP1	PBX homeobox interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313054	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12121982	TESK2	testis associated actin remodelling kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:10534	stomach cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:4362	cervical cancer		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:9002925	Narcolepsy 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 narcolepsy	PMID:25669430
12122003	EIF3G	eukaryotic translation initiation factor 3 subunit G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:0060496	respiratory allergy		ISO	RGD:1313154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16700911|PMID:19208208
12122019	SLC39A1	solute carrier family 39 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313154	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122035	MIR671	microRNA mir-671	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:2290267	D	RGD:9068941	20220317	RGD			PMID:30664171|REF_RGD_ID:151665171
12122035	MIR671	microRNA mir-671	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:2290267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:732631	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs2251898)	PMID:27151647|REF_RGD_ID:405650603
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:1826	epilepsy		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38503299
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732631	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12122044	KCNB2	potassium voltage-gated channel subfamily B member 2	gene	DOID:9970	obesity		ISO	RGD:732631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:38503299
12122049	FAM221B	family with sequence similarity 221 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122049	FAM221B	family with sequence similarity 221 member B	gene	DOID:10534	stomach cancer		ISO	RGD:1321320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122079	SCIN	scinderin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122079	SCIN	scinderin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122079	SCIN	scinderin	gene	DOID:10534	stomach cancer		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122079	SCIN	scinderin	gene	DOID:1324	lung cancer		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122079	SCIN	scinderin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122079	SCIN	scinderin	gene	DOID:4362	cervical cancer		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122079	SCIN	scinderin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122079	SCIN	scinderin	gene	DOID:5041	esophageal cancer		ISO	RGD:1350815	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122079	SCIN	scinderin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122079	SCIN	scinderin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122079	SCIN	scinderin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122096	CAV2	caveolin 2	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1343117	D	RGD:9068941	20200609	RGD		protein:increased expression:mucosa of tongue	PMID:20558341|REF_RGD_ID:8661771
12122096	CAV2	caveolin 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1343117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20062060
12122096	CAV2	caveolin 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1343117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20835238
12122096	CAV2	caveolin 2	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1343117	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs10278782, rs1052990 (human)	PMID:24572674|REF_RGD_ID:8661770
12122096	CAV2	caveolin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122096	CAV2	caveolin 2	gene	DOID:13544	low tension glaucoma	susceptibility	ISO	RGD:1343117	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1052990 (human)	PMID:23743525|REF_RGD_ID:8661774
12122096	CAV2	caveolin 2	gene	DOID:3070	high grade glioma		ISO	RGD:620348	D	RGD:9068941	20200609	RGD			PMID:22528460|REF_RGD_ID:6784517
12122096	CAV2	caveolin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122096	CAV2	caveolin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122096	CAV2	caveolin 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17379860
12122096	CAV2	caveolin 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343117	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422
12122096	CAV2	caveolin 2	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:620348	D	RGD:9068941	20200609	RGD			PMID:17060028|REF_RGD_ID:1625364
12122096	CAV2	caveolin 2	gene	DOID:9970	obesity		ISO	RGD:620348	D	RGD:9068941	20200609	RGD			PMID:22492718|REF_RGD_ID:6784520
12122108	SMAD1	SMAD family member 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1353457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
12122108	SMAD1	SMAD family member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353457	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12122108	SMAD1	SMAD family member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122108	SMAD1	SMAD family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122108	SMAD1	SMAD family member 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3030	D	RGD:9068941	20200609	RGD			PMID:17803470|REF_RGD_ID:1643224
12122108	SMAD1	SMAD family member 1	gene	DOID:12336	male infertility		ISO	RGD:3030	D	RGD:9068941	20200609	RGD		protein:decreased expression:spermatogonia, spermatocytes, spermatids	PMID:15704675|REF_RGD_ID:1643234
12122108	SMAD1	SMAD family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122108	SMAD1	SMAD family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122108	SMAD1	SMAD family member 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:3030	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:glomerulus	PMID:15591053|REF_RGD_ID:1643235
12122108	SMAD1	SMAD family member 1	gene	DOID:2999	granulosa cell tumor		ISO	RGD:734156	D	RGD:9068941	20200609	RGD			PMID:17967875|REF_RGD_ID:2299978
12122108	SMAD1	SMAD family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122108	SMAD1	SMAD family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122108	SMAD1	SMAD family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122108	SMAD1	SMAD family member 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3030	D	RGD:9068941	20200609	RGD		protein:decreased expression, increased phosphorylation:lung	PMID:18367643|REF_RGD_ID:12903274
12122108	SMAD1	SMAD family member 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3030	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:lung, vascular associated smooth muscle cell	PMID:17347486|REF_RGD_ID:1643222
12122108	SMAD1	SMAD family member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3030	D	RGD:9068941	20200609	RGD			PMID:16447265|REF_RGD_ID:1643229
12122108	SMAD1	SMAD family member 1	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:3030	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypoglossal nucleus	PMID:17166487|REF_RGD_ID:1643227
12122108	SMAD1	SMAD family member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12122108	SMAD1	SMAD family member 1	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:734156	D	RGD:9068941	20200609	RGD			PMID:17967875|REF_RGD_ID:2299978
12122108	SMAD1	SMAD family member 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1353457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30158054
12122108	SMAD1	SMAD family member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	severity	ISO	RGD:3030	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, urine	PMID:16482100|REF_RGD_ID:1643228
12122108	SMAD1	SMAD family member 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1353457	D	RGD:9068941	20200609	RGD			PMID:15911698|REF_RGD_ID:1643233
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0051061	stroke		ISO	RGD:735047	D	RGD:9068941	20200609	RGD			PMID:22417925|REF_RGD_ID:6893327
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344203	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0061270	periventricular nodular heterotopia 7		ISO	RGD:1344203	D	RGD:7240710	20190315	OMIM			
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:0061270	periventricular nodular heterotopia 7		ISO	RGD:1344203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay	PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470|PMID:32117442|PMID:32238909
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1059	intellectual disability		ISO	RGD:1344203	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27694961|PMID:28492532|PMID:32117442
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:10763	hypertension		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18524855|PMID:23348737
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:10892	hypospadias		ISO	RGD:1551161	D	RGD:9068941	20230302	RGD		protein:decreased expression:urethra	PMID:32413360|REF_RGD_ID:156431051
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1115	sarcoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:11193	syndactyly		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28701297
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1324	lung cancer		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:1826	epilepsy		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27694961|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:2030	anxiety disorder		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:27694961|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16199547|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:289	endometriosis		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:3275	thymoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:630	genetic disease		ISO	RGD:1344203	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:674	cleft palate		ISO	RGD:1344203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27694961
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27694961|PMID:28492532|PMID:28515470
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344203	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:27694961|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1344203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122128	NEDD4L	NEDD4 like E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:0060340	ciliopathy		ISO	RGD:1332516	D	RGD:9068941	20251218	MouseDO			
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FUZ-related condition | ClinVar Annotator: match by term: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Neural tube defect | ClinVar Annotator: match by term: Neural tube defects, susceptibility to	PMID:25741868|PMID:28492532
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:0080074	neural tube defect	susceptibility	ISO	RGD:1602203	D	RGD:7240710	20190502	OMIM			
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1602203	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: short-rib polydactyly syndrome type II	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:1115	sarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:4362	cervical cancer		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122185	FUZ	fuzzy planar cell polarity protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122212	MED4	mediator complex subunit 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122212	MED4	mediator complex subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122212	MED4	mediator complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122212	MED4	mediator complex subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122212	MED4	mediator complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122212	MED4	mediator complex subunit 4	gene	DOID:289	endometriosis		ISO	RGD:1354139	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12122212	MED4	mediator complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12122212	MED4	mediator complex subunit 4	gene	DOID:3275	thymoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122212	MED4	mediator complex subunit 4	gene	DOID:4362	cervical cancer	severity	ISO	RGD:1354139	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:uterine cervix (human)	PMID:19911042|REF_RGD_ID:12880436
12122212	MED4	mediator complex subunit 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122212	MED4	mediator complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122212	MED4	mediator complex subunit 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122212	MED4	mediator complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122212	MED4	mediator complex subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122212	MED4	mediator complex subunit 4	gene	DOID:768	retinoblastoma		ISO	RGD:1354139	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Eye cancer, retinoblastoma | ClinVar Annotator: match by term: Retinoblastoma	PMID:12541220|PMID:14722923|PMID:15877282|PMID:17096365|PMID:17301081|PMID:22180099|PMID:26475597|PMID:28492532|PMID:28575107|PMID:29568217|PMID:8099255
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:25741868|PMID:30303587
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080261	autosomal recessive nonsyndromic deafness 106		ISO	RGD:1321587	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 106	PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0080600	COVID-19		ISO	RGD:1321587	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:7240710	20180130	OMIM			
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:0110463	autosomal recessive nonsyndromic deafness 102		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 102 | ClinVar Annotator: match by term: EPS8-related condition	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:10534	stomach cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:1115	sarcoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:11400	pyelonephritis		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pyelonephritis	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:3275	thymoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4362	cervical cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5041	esophageal cancer		ISO	RGD:1321587	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:30303587
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:630	genetic disease		ISO	RGD:1321587	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9003507	Premature Birth		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004538	Hearing Loss		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:25741868|PMID:30303587
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321587	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19799886
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9008681	Deafness		ISO	RGD:1321587	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:25741868|PMID:30303587
12122223	EPS8	EGFR pathway substrate 8, signaling adaptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1321587	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:10534	stomach cancer		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:1909	melanoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:68448	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122249	PDLIM1	PDZ and LIM domain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68448	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:1909	melanoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605064	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1605064	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499481
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122261	LSG1	large 60S subunit nuclear export GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:3275	thymoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313972	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122278	PSMD2	proteasome 26S subunit ubiquitin receptor, non-ATPase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313972	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122303	LOC479902	methylosome protein 50	gene	DOID:0060058	lymphoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12122303	LOC479902	methylosome protein 50	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer	
12122303	LOC479902	methylosome protein 50	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12122303	LOC479902	methylosome protein 50	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122303	LOC479902	methylosome protein 50	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122303	LOC479902	methylosome protein 50	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604293	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122303	LOC479902	methylosome protein 50	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1604293	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22022581
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:28492532
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:7240710	20180130	OMIM			
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:0070013	Seckel syndrome 2		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RBBP8-Related Disorders | ClinVar Annotator: match by term: SECKEL SYNDROME 2 | ClinVar Annotator: match by term: SECKEL-TYPE DWARFISM 2 | ClinVar Annotator: match by term: Seckel syndrome 2	PMID:16199547|PMID:18414213|PMID:24389050|PMID:25741868|PMID:27848944|PMID:28492532
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:0080600	COVID-19		ISO	RGD:1317354	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:10534	stomach cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:10907	microcephaly		ISO	RGD:1317354	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:1115	sarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:11830	myopia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:3275	thymoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:4362	cervical cancer		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:28492532
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:5041	esophageal cancer		ISO	RGD:1317354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:630	genetic disease		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9004304	Plummer-Vinson Syndrome		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KELLY SYNDROME	PMID:25741868|PMID:28492532
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:7240710	20180130	OMIM			
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9008107	Microcephaly with Mental Retardation and Digital Anomalies		ISO	RGD:1317354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JAWAD SYNDROME | ClinVar Annotator: match by term: Jawad syndrome | ClinVar Annotator: match by term: KELLY SYNDROME | ClinVar Annotator: match by term: RBBP8-related condition | ClinVar Annotator: match by term: RBBP8-related disorder	PMID:17576681|PMID:18414213|PMID:25741868|PMID:28492532|PMID:9536098
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122317	RBBP8	RB binding protein 8, endonuclease	gene	DOID:9538	multiple myeloma	exacerbates	ISO	RGD:1317354	D	RGD:9068941	20240104	RGD		mRNA:increased expression:bone marrow, plasma cell (human)	PMID:30622325|REF_RGD_ID:401940173
12122347	CSDC2	cold shock domain containing C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122347	CSDC2	cold shock domain containing C2	gene	DOID:10534	stomach cancer		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122347	CSDC2	cold shock domain containing C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122355	APOL6	apolipoprotein L6	gene	DOID:4362	cervical cancer		ISO	RGD:1353798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122355	APOL6	apolipoprotein L6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122355	APOL6	apolipoprotein L6	gene	DOID:9001488	Human Influenza		ISO	RGD:1353798	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12122355	APOL6	apolipoprotein L6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122366	CD72	CD72 molecule	gene	DOID:1115	sarcoma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122366	CD72	CD72 molecule	gene	DOID:3070	high grade glioma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12122366	CD72	CD72 molecule	gene	DOID:4362	cervical cancer		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122366	CD72	CD72 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122366	CD72	CD72 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:4362	cervical cancer		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1346736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122380	GALNT11	polypeptide N-acetylgalactosaminyltransferase 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122408	STK17A	serine/threonine kinase 17a	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122408	STK17A	serine/threonine kinase 17a	gene	DOID:10534	stomach cancer		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122408	STK17A	serine/threonine kinase 17a	gene	DOID:3275	thymoma		ISO	RGD:1342550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122408	STK17A	serine/threonine kinase 17a	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342550	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0080351	CLOVES syndrome		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CLOVE SYNDROME	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27M-mutant	PMID:19962665|PMID:20713702|PMID:24705250|PMID:24705251|PMID:24705252|PMID:27048880|PMID:27993330|PMID:28966033|PMID:29967352|PMID:30961830|PMID:31348837|PMID:32555164|PMID:32680567
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0080880	diffuse glioma, H3 G34 mutant		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse glioma, H3 G34 mutant	PMID:19962665|PMID:23166678|PMID:27993330|PMID:29247016
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0081139	agammaglobulinemia 7		ISO	RGD:731958	D	RGD:7240710	20180130	OMIM			
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0081139	agammaglobulinemia 7		ISO	RGD:731958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 7, autosomal recessive	PMID:10768093|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24886349|PMID:25133428|PMID:25488983|PMID:25741868|PMID:26222500|PMID:26497935|PMID:27221134|PMID:27766312|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28472977|PMID:28492532|PMID:28934384|PMID:29051493|PMID:29178053|PMID:29486251|PMID:29636477|PMID:29740032|PMID:29921932|PMID:31031754|PMID:33129256|PMID:33742773|PMID:34922003|PMID:35101336|PMID:35753512|PMID:36943234|PMID:9536098
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:19915146|PMID:19962665|PMID:21478295|PMID:23166678|PMID:24120142|PMID:24705251|PMID:25219808|PMID:25230881|PMID:27993330|PMID:28912153|PMID:28966033|PMID:29763623|PMID:30333046|PMID:30710203|PMID:35332262
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0081284	rosette-forming glioneuronal tumor		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rosette-forming glioneuronal tumor	PMID:27993330|PMID:32859279|PMID:34498065|PMID:35293634
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0111454	SHORT syndrome		ISO	RGD:731958	D	RGD:7240710	20180130	OMIM			
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0111454	SHORT syndrome		ISO	RGD:731958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LIPODYSTROPHY, PARTIAL, WITH RIEGER ANOMALY AND SHORT STATURE | ClinVar Annotator: match by term: SHORT SYNDROME | ClinVar Annotator: match by term: SHORT syndrome	PMID:10768093|PMID:18414213|PMID:22351933|PMID:23810378|PMID:23810379|PMID:23810382|PMID:23980586|PMID:24033266|PMID:24088041|PMID:24886349|PMID:25133428|PMID:25326637|PMID:25488983|PMID:25741868|PMID:26529633|PMID:26633545|PMID:26974159|PMID:269880|PMID:27221134|PMID:27766312|PMID:28143957|PMID:28302518|PMID:28492532|PMID:28632845|PMID:29486251|PMID:29921932|PMID:31031754|PMID:34008892|PMID:36943234
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: Immunodeficiency 14	PMID:10768093|PMID:22351933|PMID:25133428|PMID:28143957|PMID:28492532|PMID:31031754
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0111949	immunodeficiency 36		ISO	RGD:731958	D	RGD:7240710	20180130	OMIM			
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:0111949	immunodeficiency 36		ISO	RGD:731958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 36 WITH LYMPHOPROLIFERATION | ClinVar Annotator: match by term: Immunodeficiency 36 with lymphoproliferation	PMID:10768093|PMID:18414213|PMID:24033266|PMID:25133428|PMID:25488983|PMID:25741868|PMID:27221134|PMID:28104464|PMID:28143957|PMID:28302518|PMID:28492532|PMID:29486251|PMID:29921932|PMID:31031754|PMID:36943234
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:731958	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:731958	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:731958	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10603	glucose intolerance		ISO	RGD:731958	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:33567340
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.M326I (human)	PMID:12185156|REF_RGD_ID:1625215
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10762	portal hypertension		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		protein:altered localization, increased tyrosine phosphorylation:plasma membrane, stomach mucosa	PMID:11826414|REF_RGD_ID:1625216
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10763	hypertension		ISO	RGD:3329	D	RGD:9068941	20200609	RGD			PMID:19015400|REF_RGD_ID:4108483
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:10763	hypertension		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		protein:decreased expression:ventricular myocyte (rat)	PMID:18300869|REF_RGD_ID:4108492
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:12306	vitiligo		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28836394
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:1380	endometrial cancer		ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:21984976|REF_RGD_ID:13674179
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:14179	X-linked agammaglobulinemia		ISO	RGD:11103	D	RGD:9068941	20220825	MouseDO		OMIM:300310 | OMIM:300755	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:17932254|PMID:20713702|PMID:21478295|PMID:21984976|PMID:23166678|PMID:25284480|PMID:25488983|PMID:26807692|PMID:28528867|PMID:29316426|PMID:29533785|PMID:34356110|PMID:34507989|PMID:35101336
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:1909	melanoma		ISO	RGD:731958	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:21478295|REF_RGD_ID:13441595
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:23636398|REF_RGD_ID:13628733
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:305	carcinoma		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1 | ClinVar Annotator: match by term: Malignant glioma	PMID:27048880|PMID:27993330|PMID:28966033|PMID:29967352|PMID:31348837|PMID:32555164|PMID:32680567
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:3275	thymoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731958	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:26695082|REF_RGD_ID:13464334
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:731958	D	RGD:9068941	20200609	RGD			PMID:25757764|REF_RGD_ID:13504823
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:5309	epithelial-myoepithelial carcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epithelial-myoepithelial carcinoma	PMID:20713702|PMID:26053092|PMID:27993330|PMID:29135520|PMID:30994537
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs3756668,rs12755(human)	PMID:28280736|REF_RGD_ID:13825123
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:731958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:630	genetic disease		ISO	RGD:731958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:3329	D	RGD:9068941	20220520	RGD			PMID:25999787|PMID:31801250|REF_RGD_ID:151893509|REF_RGD_ID:152177911
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731958	D	RGD:9068941	20220519	RGD		mRNA:increased expression:cartilage tissue (human)	PMID:31472145|REF_RGD_ID:152177908
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:7305	astroblastoma		ISO	RGD:731958	D	RGD:9068941	20200609	RGD			PMID:26956052|REF_RGD_ID:11343921
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:7305	astroblastoma	severity	ISO	RGD:731958	D	RGD:9068941	20200609	RGD			PMID:26286747|REF_RGD_ID:13782052
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:769	neuroblastoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:16822308|PMID:23232578|PMID:23334666|PMID:27993330
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:8398	osteoarthritis		ISO	RGD:731958	D	RGD:9068941	20220519	RGD		mRNA:increased expression:cartilage tissue (human)	PMID:31472145|REF_RGD_ID:152177908
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9000053	Headache		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:28492532|PMID:31031754
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type II malformation	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731958	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475|PMID:29662167|PMID:33129824
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9002647	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular Malformations and Overgrowth	PMID:19915146|PMID:19962665|PMID:20713702|PMID:24120142|PMID:24367658|PMID:25741868|PMID:26718977|PMID:26807692|PMID:27993330|PMID:28528867|PMID:28912153|PMID:28966033|PMID:29533785|PMID:30333046|PMID:30710203|PMID:34040190|PMID:35101336|PMID:35332262
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9002992	Nematode Infections	susceptibility	ISO	RGD:11103	D	RGD:9068941	20200609	RGD			PMID:11850627|REF_RGD_ID:737789
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular malformation	PMID:25741868|PMID:27993330|PMID:30861589|PMID:32642724|PMID:34952640|PMID:39434542
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		proetin:decreased dimerization:skeletal muscle (rat)	PMID:19100383|REF_RGD_ID:4108481
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9004356	Smith-Kingsmore Syndrome		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overgrowth syndrome	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		protein:increased expression:gastrocnemius (rat)	PMID:18430054|REF_RGD_ID:2307338
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9007367	Septic Peritonitis	treatment	ISO	RGD:11103	D	RGD:9068941	20200609	RGD			PMID:11850627|REF_RGD_ID:737789
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:11103	D	RGD:9068941	20200609	RGD			PMID:17283057|REF_RGD_ID:1625211
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3329	D	RGD:9068941	20200609	RGD			PMID:10426374|REF_RGD_ID:1625262
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731958	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14714311
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:731958	D	RGD:9068941	20200609	RGD		associated with Pre-Eclampsia;protein:increased tyrosine phosphorylation:placenta	PMID:16332940|REF_RGD_ID:1625212
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:11103	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary tumor (mouse)	PMID:17699716|REF_RGD_ID:4108502
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9256	colorectal cancer		ISO	RGD:731958	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:22351933|PMID:25133428|PMID:25741868|PMID:28492532
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:731958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syndromic Monogenic Diabetes	PMID:23810378|PMID:25741868
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:retina (rat)	PMID:18443201|REF_RGD_ID:4108490
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:731958	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:14551916|REF_RGD_ID:11067972
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9970	obesity		ISO	RGD:11103	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:skeletal muscle, liver	PMID:9399964|REF_RGD_ID:1625218
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9970	obesity		ISO	RGD:3329	D	RGD:9068941	20200609	RGD		protein:decreased expression:soleus	PMID:16123202|REF_RGD_ID:1625220
12122424	PIK3R1	phosphoinositide-3-kinase regulatory subunit 1	gene	DOID:9993	hypoglycemia		ISO	RGD:11103	D	RGD:9068941	20200609	RGD			PMID:9988280|REF_RGD_ID:737788
12122454	PLA2G2F	phospholipase A2 group IIF	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122454	PLA2G2F	phospholipase A2 group IIF	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322150	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122462	FBXO45	F-box protein 45	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:0050741	alcohol dependence	sexual_dimorphism	ISO	RGD:61901	D	RGD:9068941	20250529	RGD		mRNA:decreased expression:nucelus accumbens (rat)	PMID:34965406|REF_RGD_ID:616363144
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733681	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:0111292	idiopathic generalized epilepsy 10		ISO	RGD:8600113	D	RGD:9068941	20250313	ClinVar		ClinVar Annotator: match by term: Epilepsy, idiopathic generalized 10	PMID:15115768|PMID:16023832|PMID:16256272|PMID:16452673|PMID:17559416|PMID:23216579|PMID:26467025|PMID:28383543|PMID:28492532
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:10534	stomach cancer		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:1827	generalized epilepsy		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalised epilepsy	PMID:25741868|PMID:28492532
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:5419	schizophrenia		ISO	RGD:733681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18923069
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733681	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:630	genetic disease		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733681	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9006930	Generalized Epilepsy with Febrile Seizures Plus, Type 5		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 10 | ClinVar Annotator: match by term: GABRD-related condition | ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5	PMID:15115768|PMID:25194483|PMID:25741868|PMID:28492532|PMID:28600779|PMID:29758562|PMID:34633442|PMID:36801247|PMID:38458029
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9006930	Generalized Epilepsy with Febrile Seizures Plus, Type 5	susceptibility	ISO	RGD:733681	D	RGD:7240710	20250305	OMIM			
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733681	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:733681	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:15115768|PMID:16023832|PMID:16199547|PMID:16256272|PMID:16452673|PMID:17559416|PMID:17576681|PMID:20352446|PMID:23216579|PMID:24249596|PMID:25741868|PMID:26467025|PMID:28383543|PMID:28492532|PMID:28600779|PMID:29785705|PMID:30008664|PMID:33057194|PMID:34633442|PMID:9536098
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9009315	Idiopathic Generalized Epilepsy		ISO	RGD:733681	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EIG | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33057194|PMID:34633442|PMID:35723786|PMID:9536098
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9478	postpartum depression		ISO	RGD:62194	D	RGD:9068941	20220825	MouseDO			
12122468	GABRD	gamma-aminobutyric acid type A receptor subunit delta	gene	DOID:9975	cocaine dependence		ISO	RGD:61901	D	RGD:9068941	20250529	RGD		mRNA:increaseD expression:prefrontal cortex (rat)	PMID:34965406|REF_RGD_ID:616363144
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1353750	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32215045
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:0080600	COVID-19		ISO	RGD:1353750	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:1324	lung cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1353750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28945253
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353750	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1353750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
12122492	LGR6	leucine rich repeat containing G protein-coupled receptor 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:23535733
12122519	MIGA2	mitoguardin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:1324	lung cancer		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122519	MIGA2	mitoguardin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322047	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12122519	MIGA2	mitoguardin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122519	MIGA2	mitoguardin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122538	RNF122	ring finger protein 122	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122538	RNF122	ring finger protein 122	gene	DOID:1324	lung cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122538	RNF122	ring finger protein 122	gene	DOID:4362	cervical cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122538	RNF122	ring finger protein 122	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12122538	RNF122	ring finger protein 122	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122538	RNF122	ring finger protein 122	gene	DOID:9256	colorectal cancer		ISO	RGD:1352221	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12122548	CDC42EP5	CDC42 effector protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122555	BCAN	brevican	gene	DOID:10584	retinitis pigmentosa	severity	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:29150673|REF_RGD_ID:14392802
12122555	BCAN	brevican	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10227	D	RGD:9068941	20200609	RGD		protein:altered modification:brain	PMID:20180882|REF_RGD_ID:14392785
12122555	BCAN	brevican	gene	DOID:3070	high grade glioma		ISO	RGD:2194	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:12799382|REF_RGD_ID:14392782
12122555	BCAN	brevican	gene	DOID:3070	high grade glioma		ISO	RGD:736888	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:16061654|REF_RGD_ID:14392797
12122555	BCAN	brevican	gene	DOID:3070	high grade glioma	severity	ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:11585735|REF_RGD_ID:14392783
12122555	BCAN	brevican	gene	DOID:3070	high grade glioma	severity	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:23253190|REF_RGD_ID:14392804
12122555	BCAN	brevican	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15869933|REF_RGD_ID:9590118
12122555	BCAN	brevican	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15016081|REF_RGD_ID:9589823
12122555	BCAN	brevican	gene	DOID:9000115	Posthemorrhagic Hydrocephalus	treatment	ISO	RGD:736888	D	RGD:9068941	20200609	RGD			PMID:22186713|REF_RGD_ID:6483013
12122555	BCAN	brevican	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2194	D	RGD:9068941	20200609	RGD			PMID:15817274|REF_RGD_ID:14392799
12122555	BCAN	brevican	gene	DOID:9008941	Muscle Hypertonia		IAGP		D	RGD:12801476	20250113	OMIA		Episodic falling, BCAN-related	PMID:6868317|PMID:21821125|PMID:22253609|PMID:30650096|PMID:25441627|PMID:3680644|PMID:3716135|PMID:15971896|PMID:36086931|PMID:39119350|PMID:38003185
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1314029	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1314029	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1314029	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122602	AGPAT3	1-acylglycerol-3-phosphate O-acyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:737195	D	RGD:9068941	20200609	RGD			PMID:12145210|REF_RGD_ID:1549449
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:737195	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectal mucosa (human)	PMID:10874008|REF_RGD_ID:151347670
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:737195	D	RGD:9068941	20220825	RGD		protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:737195	D	RGD:9068941	20220204	RGD		associated with papillomavirus infectious disease;protein:increased expression:oral cavity (human)	PMID:28155253|REF_RGD_ID:151347666
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1824	status epilepticus		ISO	RGD:737195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7984056
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1909	melanoma	treatment	ISO	RGD:737195	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:28976960|REF_RGD_ID:151347671
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:219	colon cancer		ISO	RGD:737195	D	RGD:9068941	20220204	RGD		RNA:decreased expression:colon (human)	PMID:11751871|REF_RGD_ID:151347667
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3121	gallbladder cancer	exacerbates	ISO	RGD:737195	D	RGD:9068941	20220204	RGD		protein:increased expression:gall bladder (human)	PMID:26318166|REF_RGD_ID:11528126
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:737195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737195	D	RGD:9068941	20220204	RGD		protein:increased expression:esophagus (human)	PMID:19758438|REF_RGD_ID:151347672
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:737195	D	RGD:9068941	20220204	RGD		protein:increased expression:esophagus (human)	PMID:30227324|REF_RGD_ID:151347669
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:737195	D	RGD:9068941	20220204	RGD		RNA:increased expression:lung (human)	PMID:29895215|REF_RGD_ID:151347665
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24366584
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:4451	renal carcinoma		ISO	RGD:2944	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:9405228|REF_RGD_ID:2293758
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5520	head and neck squamous cell carcinoma	ameliorates	ISO	RGD:737195	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:26754630|REF_RGD_ID:11556098
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:737195	D	RGD:9068941	20200609	RGD			PMID:12145210|REF_RGD_ID:1549449
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289808|PMID:27935865
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:2944	D	RGD:9068941	20200609	RGD		protein:increased expression:tongue epithelium	PMID:14674993|REF_RGD_ID:2293780
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737195	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737196	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12122616	JUNB	JunB proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:737195	D	RGD:9068941	20220204	RGD		associated with ulcerative colitis;protein:increased expression:colonic mucosa (human)	PMID:33299340|REF_RGD_ID:151347858
12122621	MIR151	microRNA mir-151	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1608322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12122621	MIR151	microRNA mir-151	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1345628	D	RGD:9068941	20220825	RGD		human cells in mouse model;RNA:decreased expression:colon,exosome (human)	PMID:28211508|REF_RGD_ID:153344546
12122621	MIR151	microRNA mir-151	gene	DOID:3021	acute kidney failure		ISO	RGD:1608322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12122621	MIR151	microRNA mir-151	gene	DOID:6000	congestive heart failure		ISO	RGD:1345628	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12122621	MIR151	microRNA mir-151	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1608322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12122621	MIR151	microRNA mir-151	gene	DOID:9256	colorectal cancer		ISO	RGD:1345628	D	RGD:9068941	20220908	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12122621	MIR151	microRNA mir-151	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12122658	CTXND1	cortexin domain containing 1	gene	DOID:11372	megacolon		ISO	RGD:8655729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12122691	ACAN	aggrecan	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122691	ACAN	aggrecan	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:16080123|PMID:24762113|PMID:25741868|PMID:28492532
12122691	ACAN	aggrecan	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122691	ACAN	aggrecan	gene	DOID:0051061	stroke	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:24664200|REF_RGD_ID:11570545
12122691	ACAN	aggrecan	gene	DOID:0111390	mucopolysaccharidosis Ih		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysostosis multiplex	PMID:25741868
12122691	ACAN	aggrecan	gene	DOID:0112280	spondyloepiphyseal dysplasia		ISO	RGD:68507	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia	PMID:25741868
12122691	ACAN	aggrecan	gene	DOID:0112282	spondyloepiphyseal dysplasia Kimberley type		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
12122691	ACAN	aggrecan	gene	DOID:0112282	spondyloepiphyseal dysplasia Kimberley type		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondyloepiphyseal dysplasia, Kimberley type	PMID:16080123|PMID:16199547|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:33471655
12122691	ACAN	aggrecan	gene	DOID:10316	pneumoconiosis		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25445010
12122691	ACAN	aggrecan	gene	DOID:10534	stomach cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122691	ACAN	aggrecan	gene	DOID:10584	retinitis pigmentosa	treatment	ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:25646031|REF_RGD_ID:11570529
12122691	ACAN	aggrecan	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122691	ACAN	aggrecan	gene	DOID:11727	facioscapulohumeral muscular dystrophy		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12868502
12122691	ACAN	aggrecan	gene	DOID:1824	status epilepticus		ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:22934955|REF_RGD_ID:11570543
12122691	ACAN	aggrecan	gene	DOID:1909	melanoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12122691	ACAN	aggrecan	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
12122691	ACAN	aggrecan	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12122691	ACAN	aggrecan	gene	DOID:2377	multiple sclerosis		ISO	RGD:68507	D	RGD:9068941	20200609	RGD		protein:altered expression:central nervous system, plaque (human)	PMID:11764092|REF_RGD_ID:2315836
12122691	ACAN	aggrecan	gene	DOID:4362	cervical cancer		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122691	ACAN	aggrecan	gene	DOID:4480	achondroplasia		ISO	RGD:735902	D	RGD:9068941	20220825	MouseDO		OMIM:100800	
12122691	ACAN	aggrecan	gene	DOID:6000	congestive heart failure		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myocardium	PMID:24595230|REF_RGD_ID:11570548
12122691	ACAN	aggrecan	gene	DOID:630	genetic disease		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16080123|PMID:24762113|PMID:25419514|PMID:25741868|PMID:27870580|PMID:28492532
12122691	ACAN	aggrecan	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:68507	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292528
12122691	ACAN	aggrecan	gene	DOID:7148	rheumatoid arthritis	disease_progression	ISO	RGD:68507	D	RGD:9068941	20200609	RGD		protein:increased degradation:cartilage	PMID:16507130|REF_RGD_ID:11570537
12122691	ACAN	aggrecan	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:21853458|REF_RGD_ID:11570544
12122691	ACAN	aggrecan	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:22833446|REF_RGD_ID:11570535
12122691	ACAN	aggrecan	gene	DOID:84	osteochondritis dissecans		ISO	RGD:68507	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Osteochondritis dissecans | ClinVar Annotator: match by term: osteochondritis dissecans	PMID:16080123|PMID:20137779|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:35330881
12122691	ACAN	aggrecan	gene	DOID:90	degenerative disc disease		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:intervertebral disk	PMID:24285589|REF_RGD_ID:11570539
12122691	ACAN	aggrecan	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency	PMID:19063844|REF_RGD_ID:10043178
12122691	ACAN	aggrecan	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		protein:altered expression:spinal cord (rat)	PMID:14769391|REF_RGD_ID:2315837
12122691	ACAN	aggrecan	gene	DOID:9000998	Brain Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:fascia dentata (rat)	PMID:18511192|REF_RGD_ID:2315807
12122691	ACAN	aggrecan	gene	DOID:9001088	Spondyloepimetaphyseal Dysplasia, Aggrecan Type		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
12122691	ACAN	aggrecan	gene	DOID:9001088	Spondyloepimetaphyseal Dysplasia, Aggrecan Type		ISO	RGD:68507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEMD, AGGRECAN TYPE | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, aggrecan type	PMID:11942407|PMID:16080123|PMID:19110214|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:32871652|PMID:40987814
12122691	ACAN	aggrecan	gene	DOID:9001680	SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS		ISO	RGD:68507	D	RGD:7240710	20180130	OMIM			
12122691	ACAN	aggrecan	gene	DOID:9001680	SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS		ISO	RGD:68507	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SHORT STATURE AND ADVANCED BONE AGE | ClinVar Annotator: match by term: SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS | ClinVar Annotator: match by term: Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans | ClinVar Annotator: match by term: Short stature-advanced bone age-early-onset osteoarthritis syndrome	PMID:16080123|PMID:16199547|PMID:17576681|PMID:24762113|PMID:25741868|PMID:27870580|PMID:28492532|PMID:29769040|PMID:31841439|PMID:33471655|PMID:34922359|PMID:36714562|PMID:38613222|PMID:9536098
12122691	ACAN	aggrecan	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	
12122691	ACAN	aggrecan	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:68358	D	RGD:9068941	20200609	RGD			PMID:25821409|REF_RGD_ID:12879456
12122691	ACAN	aggrecan	gene	DOID:9003133	Hypertelorism		ISO	RGD:68507	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532
12122691	ACAN	aggrecan	gene	DOID:9003507	Premature Birth		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16080123|PMID:16199547|PMID:24762113|PMID:25741868|PMID:28492532|PMID:33471655
12122691	ACAN	aggrecan	gene	DOID:9003816	Macrocephaly		ISO	RGD:68507	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532
12122691	ACAN	aggrecan	gene	DOID:9006496	Lordosis		ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:9192671|REF_RGD_ID:1300269
12122691	ACAN	aggrecan	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122691	ACAN	aggrecan	gene	DOID:9007661	Dwarfism		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16080123|PMID:24762113|PMID:25741868|PMID:28492532|PMID:38613222
12122691	ACAN	aggrecan	gene	DOID:9008331	Tendon Injuries		ISO	RGD:68358	D	RGD:9068941	20200609	RGD		mRNA:increased expression:patellar ligament (rat)	PMID:19955224|REF_RGD_ID:2315073
12122691	ACAN	aggrecan	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122691	ACAN	aggrecan	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:735902	D	RGD:9068941	20200609	RGD			PMID:9192671|REF_RGD_ID:1300269
12122691	ACAN	aggrecan	gene	DOID:9849	Meniere's disease		ISO	RGD:68507	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:25419514
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:1324	lung cancer		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122721	PNISR	PNN interacting serine and arginine rich protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348047	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122744	TAX1BP1	Tax1 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12122771	HDGFL3	HDGF like 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122771	HDGFL3	HDGF like 3	gene	DOID:1324	lung cancer		ISO	RGD:1606795	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122771	HDGFL3	HDGF like 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606795	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122771	HDGFL3	HDGF like 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122771	HDGFL3	HDGF like 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606795	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122780	MORN3	MORN repeat containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122780	MORN3	MORN repeat containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122780	MORN3	MORN repeat containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122780	MORN3	MORN repeat containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122780	MORN3	MORN repeat containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122780	MORN3	MORN repeat containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122780	MORN3	MORN repeat containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:10534	stomach cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:1909	melanoma		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1322074	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122804	NUDT12	nudix hydrolase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122835	LACRT	lacritin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122857	PGR	progesterone receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122857	PGR	progesterone receptor	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:12628841|REF_RGD_ID:2289659
12122857	PGR	progesterone receptor	gene	DOID:10534	stomach cancer		ISO	RGD:731081	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122857	PGR	progesterone receptor	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:3317	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary:	PMID:19698287|REF_RGD_ID:4145934
12122857	PGR	progesterone receptor	gene	DOID:127	leiomyoma	no_association	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:15807882|REF_RGD_ID:1601278
12122857	PGR	progesterone receptor	gene	DOID:12700	hyperprolactinemia	susceptibility	ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:15807882|REF_RGD_ID:1601278
12122857	PGR	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:3317	D	RGD:9068941	20200609	RGD			PMID:21166214|REF_RGD_ID:7248704
12122857	PGR	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642|PMID:21232532
12122857	PGR	progesterone receptor	gene	DOID:289	endometriosis		ISO	RGD:731081	D	RGD:9068941	20200609	RGD			PMID:16126772|REF_RGD_ID:1601277
12122857	PGR	progesterone receptor	gene	DOID:299	adenocarcinoma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
12122857	PGR	progesterone receptor	gene	DOID:305	carcinoma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
12122857	PGR	progesterone receptor	gene	DOID:3275	thymoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122857	PGR	progesterone receptor	gene	DOID:3565	meningioma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19731987|PMID:19747051|PMID:8008172
12122857	PGR	progesterone receptor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12122857	PGR	progesterone receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122857	PGR	progesterone receptor	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
12122857	PGR	progesterone receptor	gene	DOID:9000998	Brain Injuries		ISO	RGD:3317	D	RGD:9068941	20200609	RGD			PMID:23211561|REF_RGD_ID:7248711
12122857	PGR	progesterone receptor	gene	DOID:9002801	Recurrence		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19747051
12122857	PGR	progesterone receptor	gene	DOID:9003566	Mesothelioma		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
12122857	PGR	progesterone receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15637090
12122857	PGR	progesterone receptor	gene	DOID:9006882	Progesterone Resistance		ISO	RGD:731081	D	RGD:7240710	20180130	OMIM			
12122857	PGR	progesterone receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731081	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122857	PGR	progesterone receptor	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
12122857	PGR	progesterone receptor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731081	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19436038|PMID:21501481
12122857	PGR	progesterone receptor	gene	DOID:9970	obesity		ISO	RGD:731081	D	RGD:9068941	20200609	RGD		DNA:polymorphism:CDS:PROGINS polymorphism, combination of long polyglutamine repeat in NCOA3 and homozygous A1/A1 PGR PROGINS genotype associated with obesity in 301 postmenopausal women with breast cancer	PMID:14557830|REF_RGD_ID:1642050
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0050477	Liddle syndrome		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348737
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0051061	stroke		ISO	RGD:736324	D	RGD:9068941	20200609	RGD			PMID:15734793|REF_RGD_ID:5509790
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736324	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0060854	autosomal recessive pseudohypoaldosteronism type 1		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive pseudohypoaldosteronism type 1	PMID:10403853|PMID:10523338|PMID:10586178|PMID:11978598|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0080527	bronchiectasis 2		ISO	RGD:736324	D	RGD:7240710	20180130	OMIM			
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0080527	bronchiectasis 2		ISO	RGD:736324	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2 | ClinVar Annotator: match by term: Idiopathic bronchiectasis	PMID:10403853|PMID:10523338|PMID:10586178|PMID:11978598|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23392097|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28844315|PMID:33829730|PMID:34134742|PMID:37252702|PMID:38288475|PMID:39419738
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:736324	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 1	PMID:25741868
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:736324	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10283	prostate cancer		ISO	RGD:736324	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10591	pre-eclampsia		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16555725
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752024|PMID:23348737
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:10763	hypertension	onset	ISO	RGD:3639	D	RGD:9068941	20260611	RGD		mRNA:increased expression:kidney	PMID:23959560|REF_RGD_ID:730468049
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3639	D	RGD:9068941	20200609	RGD			PMID:15075188|REF_RGD_ID:1624161
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		protein:increased expression:kidney	PMID:16189294|REF_RGD_ID:736686873
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:12387	nephrogenic diabetes insipidus	treatment	ISO	RGD:3639	D	RGD:9068941	20260611	RGD			PMID:16332930|REF_RGD_ID:730468051
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:736324	D	RGD:9068941	20260205	RGD		DNA:SNPs:intron, 3' utr:rs4149570, rs7956915	PMID:26611714|REF_RGD_ID:11537134
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:1324	lung cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:1485	cystic fibrosis		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077107|PMID:19462466
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1605382,RGD:737288,RGD:619566	D	RGD:9068941	20260101	RGD		DNA:SNP, haplotype:663T>A (rs2228576)	PMID:16463024|REF_RGD_ID:629142775
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:3639	D	RGD:9068941	20260101	RGD		protein:decreased expression:lung	PMID:16214817|REF_RGD_ID:629142782
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:4362	cervical cancer		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10523338|PMID:11978598|PMID:16249274|PMID:24033266|PMID:25741868|PMID:28492532
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism	PMID:10403853|PMID:10586178|PMID:23416952|PMID:25741868|PMID:28492532|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:5199	ureteral obstruction	treatment	ISO	RGD:3639	D	RGD:9068941	20260611	RGD			PMID:17475897|REF_RGD_ID:2308940
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:576	proteinuria		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752024
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:769	neuroblastoma	disease_progression	ISO	RGD:736324	D	RGD:9068941	20200609	RGD		Low levels of methylation correlate with improved survival	PMID:21314941|REF_RGD_ID:5509791
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:850	lung disease		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15077107|PMID:19462466
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:8778	Crohn's disease		ISO	RGD:3639	D	RGD:9068941	20260611	RGD		mRNA:decreased expression:sigmoid colon	PMID:18355814|REF_RGD_ID:730468915
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:736324	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16168501
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9001513	Asthenozoospermia	treatment	ISO	RGD:3639	D	RGD:9068941	20260709	RGD			PMID:18298571|REF_RGD_ID:736686877
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3639	D	RGD:9068941	20260101	RGD		protein: decreased expression: lung	PMID:23061076|REF_RGD_ID:629142781
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		mRNA:decreased expression:lung	PMID:19150416|REF_RGD_ID:736686872
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3639	D	RGD:9068941	20260627	RGD			PMID:24938646|REF_RGD_ID:736702732
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3639	D	RGD:9068941	20260611	RGD		protein:decreased expression:inner medulla of kidney	PMID:18029369|REF_RGD_ID:730468053
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive		ISO	RGD:736324	D	RGD:7240710	20221207	OMIM			
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9006963	Pseudohypoaldosteronism Type IB1, Autosomal Recessive		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IB1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pseudohypoaldosteronism, type IB1, autosomal recessive	PMID:10403853|PMID:10510337|PMID:10523338|PMID:10586178|PMID:11978598|PMID:12376807|PMID:15734793|PMID:16199547|PMID:16249274|PMID:19462466|PMID:20194130|PMID:21917531|PMID:23416952|PMID:24033266|PMID:25741868|PMID:26453628|PMID:26668308|PMID:28492532|PMID:28710092|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738|PMID:8589714
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9008821	Otitis Media with Effusion		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		mRNA:altered expression:mucosa of middle ear	PMID:19732969|REF_RGD_ID:736686874
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9009241	Liddle Syndrome 3		ISO	RGD:736324	D	RGD:7240710	20190315	OMIM			
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9009241	Liddle Syndrome 3		ISO	RGD:736324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIDDLE SYNDROME 3 | ClinVar Annotator: match by term: Liddle syndrome 3	PMID:10403853|PMID:10586178|PMID:16199547|PMID:23416952|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28710092|PMID:28844315|PMID:33829730|PMID:37252702|PMID:38288475|PMID:39419738
12122869	SCNN1A	sodium channel epithelial 1 subunit alpha	gene	DOID:9970	obesity		ISO	RGD:3639	D	RGD:9068941	20260625	RGD		protein:increased expression:kidney	PMID:18305093|REF_RGD_ID:736686869
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0050453	lissencephaly		ISO	RGD:732715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Macrogyria | ClinVar Annotator: match by term: lissencephaly	PMID:25741868|PMID:28492532|PMID:29706637|PMID:31086189
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0080000	muscular disease		ISO	RGD:732715	D	RGD:9068941	20200609	RGD			PMID:15912881|REF_RGD_ID:1626306
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0080600	COVID-19		ISO	RGD:732715	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:732715	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603762
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0090138	complex cortical dysplasia with other brain malformations 4		ISO	RGD:732715	D	RGD:7240710	20180130	OMIM			
12122897	TUBG1	tubulin, gamma 1	gene	DOID:0090138	complex cortical dysplasia with other brain malformations 4		ISO	RGD:732715	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4 | ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 4 | ClinVar Annotator: match by term: TUBG1-related condition	PMID:25741868|PMID:28492532|PMID:31151415
12122897	TUBG1	tubulin, gamma 1	gene	DOID:1059	intellectual disability		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12122897	TUBG1	tubulin, gamma 1	gene	DOID:10907	microcephaly		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31151415
12122897	TUBG1	tubulin, gamma 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12122897	TUBG1	tubulin, gamma 1	gene	DOID:1115	sarcoma		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122897	TUBG1	tubulin, gamma 1	gene	DOID:3429	inclusion body myositis		ISO	RGD:732715	D	RGD:9068941	20200609	RGD			PMID:15912881|REF_RGD_ID:1626306
12122897	TUBG1	tubulin, gamma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122897	TUBG1	tubulin, gamma 1	gene	DOID:630	genetic disease		ISO	RGD:732715	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12122897	TUBG1	tubulin, gamma 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12122897	TUBG1	tubulin, gamma 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
12122897	TUBG1	tubulin, gamma 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12122897	TUBG1	tubulin, gamma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12122912	LIPF	lipase F, gastric type	gene	DOID:3275	thymoma		ISO	RGD:1343616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12122912	LIPF	lipase F, gastric type	gene	DOID:4362	cervical cancer		ISO	RGD:1343616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F		ISO	RGD:732480	D	RGD:7240710	20180130	OMIM			
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0110163	Charcot-Marie-Tooth disease axonal type 2F		ISO	RGD:732480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2F | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, neuronal, Type 2F | ClinVar Annotator: match by term: HSPB1-related disorder	PMID:15122254|PMID:16087758|PMID:16155736|PMID:16199547|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18325928|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22057845|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26989944|PMID:27492805|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28018906|PMID:28077174|PMID:28106320|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28717666|PMID:28797631|PMID:29031079|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29970176|PMID:30373780|PMID:30669930|PMID:30758704|PMID:30842409|PMID:31453292|PMID:31573509|PMID:31919945|PMID:32298515|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32397312|PMID:32461654|PMID:33509756|PMID:33686258|PMID:34190362|PMID:34354735|PMID:35297556|PMID:35328016|PMID:36291591|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22734906|PMID:25741868|PMID:28144995|PMID:33686258
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0111206	autosomal dominant distal hereditary motor neuronopathy 2		ISO	RGD:732480	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Distal hereditary motor neuropathy type 2	PMID:18344398|PMID:18832141|PMID:21892769|PMID:23948568|PMID:25220807|PMID:25429913|PMID:25741868|PMID:26467025|PMID:27816334|PMID:28000086|PMID:28379183|PMID:28492532|PMID:28797631
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3		ISO	RGD:732480	D	RGD:7240710	20180130	OMIM			
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:0111207	autosomal dominant distal hereditary motor neuronopathy 3		ISO	RGD:732480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE IIB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 2B	PMID:15122254|PMID:16087758|PMID:16155736|PMID:16215937|PMID:16368711|PMID:17623484|PMID:18325928|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21785432|PMID:21892769|PMID:21971574|PMID:22031878|PMID:22176143|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28547731|PMID:28595321|PMID:28702508|PMID:28797631|PMID:28828227|PMID:29031079|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29858556|PMID:29970176|PMID:30669930|PMID:30758704|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32334137|PMID:33509756|PMID:33644875|PMID:33686258|PMID:35297556|PMID:36291591
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28144995|PMID:28166811|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:11528513|PMID:12372593|PMID:15122254|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21892769|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22521462|PMID:22734906|PMID:23643870|PMID:23948568|PMID:23963299|PMID:24607769|PMID:25025039|PMID:25088881|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:26141737|PMID:26467025|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:32334137|PMID:32376792|PMID:32528171|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:11528513|PMID:12372593|PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:17881652|PMID:18325928|PMID:18344398|PMID:18587268|PMID:18832141|PMID:18952241|PMID:19435728|PMID:20178975|PMID:20660910|PMID:20870250|PMID:21149811|PMID:21611841|PMID:21785432|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22521462|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:23963299|PMID:24505562|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25547330|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:27862672|PMID:28000086|PMID:28077174|PMID:28105056|PMID:28106320|PMID:2814495|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29381233|PMID:29547183|PMID:30373780|PMID:30758704|PMID:31069529|PMID:31453292|PMID:31573509|PMID:31630804|PMID:32301006|PMID:32323160|PMID:32334137|PMID:32376792|PMID:32461654|PMID:33686258|PMID:33943041|PMID:35328016|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15122254|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18325928|PMID:18344398|PMID:18832141|PMID:18952241|PMID:20178975|PMID:20660910|PMID:21149811|PMID:21892769|PMID:21971574|PMID:21983720|PMID:22031878|PMID:22176143|PMID:22206013|PMID:22484489|PMID:22734906|PMID:23379525|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:24719117|PMID:25025039|PMID:25088881|PMID:25220807|PMID:25429913|PMID:25614874|PMID:25741868|PMID:25965061|PMID:25999205|PMID:26077850|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26986878|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28106320|PMID:2814495|PMID:28144995|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29184351|PMID:29381233|PMID:29547183|PMID:29970176|PMID:30373780|PMID:30758704|PMID:31069529|PMID:31453292|PMID:31573509|PMID:32301006|PMID:32323160|PMID:32376792|PMID:32461654|PMID:33686258|PMID:35297556|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brainstem, astrocyte:	PMID:25772164|REF_RGD_ID:10402580
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:10762	portal hypertension		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:12372593|PMID:15122254|PMID:20178975|PMID:21611841|PMID:22176143|PMID:22521462|PMID:24607769|PMID:25547330|PMID:25741868|PMID:26467025|PMID:26989944|PMID:28492532|PMID:38968664
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:1115	sarcoma	disease_progression	ISO	RGD:732480	D	RGD:9068941	20200609	RGD			PMID:21833720|REF_RGD_ID:10402768
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:11155	hypohidrosis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:11830	myopia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:18344398|PMID:18832141|PMID:21892769|PMID:23948568|PMID:25220807|PMID:25429913|PMID:25741868|PMID:26467025|PMID:27816334|PMID:28000086|PMID:28379183|PMID:28492532|PMID:28797631
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, podocyte:	PMID:21931298|REF_RGD_ID:10402764
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:732480	D	RGD:9068941	20200609	RGD			PMID:21833720|REF_RGD_ID:10402768
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:1824	status epilepticus		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20971094
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,astrocyte:	PMID:10559386|REF_RGD_ID:10402577
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:2773	contact dermatitis		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:2841	asthma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19381893
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:4362	cervical cancer		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:480	movement disease		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:6000	congestive heart failure		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17481944
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:630	genetic disease		ISO	RGD:732480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15122254|PMID:16087758|PMID:16215937|PMID:17576681|PMID:17623484|PMID:18344398|PMID:18832141|PMID:20178975|PMID:20660910|PMID:21892769|PMID:22031878|PMID:22176143|PMID:23530264|PMID:23643870|PMID:23728742|PMID:23948568|PMID:24607769|PMID:25025039|PMID:25220807|PMID:25429913|PMID:25614874|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26675522|PMID:26752306|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28000086|PMID:28018906|PMID:28106320|PMID:28144995|PMID:28286897|PMID:28379183|PMID:28492532|PMID:28518168|PMID:28595321|PMID:28702508|PMID:28797631|PMID:29048431|PMID:29184351|PMID:29330367|PMID:29381233|PMID:29547183|PMID:29970176|PMID:30669930|PMID:31453292|PMID:32334137|PMID:32376792|PMID:32461654|PMID:33509756|PMID:35297556|PMID:36291591|PMID:9536098
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:21417552|REF_RGD_ID:10402843
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal cord:	PMID:12098653|REF_RGD_ID:10402749
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:61306	D	RGD:9068941	20200903	RGD			PMID:30287503|REF_RGD_ID:38549580
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000307	Presbycusis		ISO	RGD:732481	D	RGD:9068941	20200609	RGD			PMID:24587312|REF_RGD_ID:10402574
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000972	Fever		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:glial cell	PMID:12834255|REF_RGD_ID:1304397
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:61306	D	RGD:9068941	20200609	RGD			PMID:11746764|REF_RGD_ID:6480530
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:61306	D	RGD:9068941	20200609	RGD			PMID:21310899|REF_RGD_ID:10402767
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9001733	Tinnitus		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:glomerulus:	PMID:21931298|REF_RGD_ID:10402764
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732480	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus, podocyte:	PMID:21931298|REF_RGD_ID:10402764
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002221	Hyperplasia		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864298
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:15472083|REF_RGD_ID:10402769
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19193722
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19840781
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:18832141|PMID:23530264|PMID:23643870|PMID:23948568|PMID:24607769|PMID:25741868|PMID:26141737|PMID:26467025|PMID:26752306|PMID:26989944|PMID:27816334|PMID:27830184|PMID:28018906|PMID:28492532|PMID:28595321|PMID:28702508|PMID:29184351|PMID:29381233|PMID:29547183|PMID:35297556
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9007736	Vertigo		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9008691	Liver Injury		ISO	RGD:61306	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver,hepatocyte,macrophage:	PMID:22417648|REF_RGD_ID:10402770
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9538	multiple myeloma		ISO	RGD:732480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12855565
12122933	HSPB1	heat shock protein family B (small) member 1	gene	DOID:9834	hyperopia		ISO	RGD:732480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12122940	CALM2	calmodulin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12122940	CALM2	calmodulin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:28492532
12122940	CALM2	calmodulin 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:2258	D	RGD:9068941	20250529	RGD		mRNA:decreased expression:brain (rat)	PMID:11072096|REF_RGD_ID:616363140
12122940	CALM2	calmodulin 2	gene	DOID:0080600	COVID-19		ISO	RGD:736342	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12122940	CALM2	calmodulin 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1	PMID:23388215|PMID:24917665|PMID:25741868|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27516456|PMID:28335032|PMID:28492532|PMID:31283864
12122940	CALM2	calmodulin 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736342	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27516456|PMID:27765793|PMID:28492532|PMID:9536098
12122940	CALM2	calmodulin 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736342	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098
12122940	CALM2	calmodulin 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736342	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11569915|PMID:17576681|PMID:23388215|PMID:24076290|PMID:24917665|PMID:25741868|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30348784|PMID:30354306|PMID:31283864|PMID:32383558|PMID:9536098
12122940	CALM2	calmodulin 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:736342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1	PMID:11569915|PMID:17576681|PMID:23388215|PMID:24076290|PMID:24917665|PMID:25741868|PMID:26969752|PMID:27114410|PMID:27165696|PMID:27374306|PMID:28492532|PMID:30354306|PMID:9536098
12122940	CALM2	calmodulin 2	gene	DOID:0110656	long QT syndrome 15		ISO	RGD:736342	D	RGD:7240710	20180130	OMIM			
12122940	CALM2	calmodulin 2	gene	DOID:0110656	long QT syndrome 15		ISO	RGD:736342	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LONG QT SYNDROME 15 | ClinVar Annotator: match by term: Long QT syndrome 15	PMID:11569915|PMID:23388215|PMID:24917665|PMID:25741868|PMID:26164367|PMID:27165696|PMID:27765793|PMID:28492532|PMID:29758562|PMID:31170290|PMID:32383558|PMID:38258601
12122940	CALM2	calmodulin 2	gene	DOID:10534	stomach cancer		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122940	CALM2	calmodulin 2	gene	DOID:1115	sarcoma		ISO	RGD:736342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12122940	CALM2	calmodulin 2	gene	DOID:1324	lung cancer		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12122940	CALM2	calmodulin 2	gene	DOID:1470	major depressive disorder		ISO	RGD:736342	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:frontal association cortex	PMID:22885997|REF_RGD_ID:6892958
12122940	CALM2	calmodulin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:736342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:11569915|PMID:17576681|PMID:23388215|PMID:24917665|PMID:26164367|PMID:26969752|PMID:27100291|PMID:27114410|PMID:27165696|PMID:27374306|PMID:27516456|PMID:27765793|PMID:28335032|PMID:28492532|PMID:30354306|PMID:31283864|PMID:9536098
12122940	CALM2	calmodulin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12122940	CALM2	calmodulin 2	gene	DOID:302	substance abuse		ISO	RGD:736342	D	RGD:9068941	20250717	RGD		mRNA:decreased expression:brain	PMID:17205118|REF_RGD_ID:597830175
12122940	CALM2	calmodulin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12122940	CALM2	calmodulin 2	gene	DOID:5062	phencyclidine abuse		ISO	RGD:736342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12122940	CALM2	calmodulin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122940	CALM2	calmodulin 2	gene	DOID:630	genetic disease		ISO	RGD:736342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12122940	CALM2	calmodulin 2	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2258	D	RGD:9068941	20250529	RGD		mRNA:decreased expression:brain (rat)	PMID:11072096|REF_RGD_ID:616363140
12122940	CALM2	calmodulin 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:736342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12122940	CALM2	calmodulin 2	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:736342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	
12122940	CALM2	calmodulin 2	gene	DOID:9505	cannabis abuse		ISO	RGD:736342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12122950	OSBP2	oxysterol binding protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321446	D	RGD:9068941	20210129	RGD		mRNA:increased expression:blood	PMID:21763455|REF_RGD_ID:41404644
12122950	OSBP2	oxysterol binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:1321858	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: -183 A>G (rs2297235)(human)	PMID:15917099|REF_RGD_ID:5490514
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:1321858	D	RGD:9068941	20200609	RGD		DDNA:polymorphism: : -183 A>G (rs2297235)(human)	PMID:14570706|REF_RGD_ID:1358651
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22306368
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1321858	D	RGD:9068941	20200609	RGD		DDNA:polymorphism: : -183 A>G (rs2297235)(human)	PMID:14570706|REF_RGD_ID:1358651
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1321858	D	RGD:9068941	20200609	RGD		DNA:polymorphism: : -183 A>G (rs2297235)(human)	PMID:17194543|REF_RGD_ID:5490299
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1321858	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p. N142D (human)	PMID:20374258|REF_RGD_ID:5490988
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12122991	GSTO2	glutathione S-transferase omega 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:305	carcinoma		ISO	RGD:1312589	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1312589	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1312589	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462|PMID:16316942
12123009	ATP5IF1	ATP synthase inhibitory factor subunit 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312589	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:10283	prostate cancer		ISO	RGD:733874	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733874	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:630	genetic disease		ISO	RGD:733874	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:9003336	Neonatal Zinc Deficiency due to Low Breast Milk Zinc		ISO	RGD:733874	D	RGD:7240710	20180130	OMIM			
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:9003336	Neonatal Zinc Deficiency due to Low Breast Milk Zinc		ISO	RGD:733874	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ZINC DEFICIENCY, TRANSIENT NEONATAL | ClinVar Annotator: match by term: Zinc deficiency, transient neonatal	PMID:24456035|PMID:25741868|PMID:28665435
12123016	SLC30A2	solute carrier family 30 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:0060249	scoliosis		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:0080046	Stickler syndrome		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:0090144	Donnai-Barrow syndrome		ISO	RGD:68599	D	RGD:7240710	20180130	OMIM			
12123028	LRP2	LDL receptor related protein 2	gene	DOID:0090144	Donnai-Barrow syndrome		ISO	RGD:68599	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DBS/FOAR SYNDROME | ClinVar Annotator: match by term: DONNAI-BARROW SYNDROME | ClinVar Annotator: match by term: Donnai Barrow syndrome | ClinVar Annotator: match by term: Donnai-Barrow syndrome | ClinVar Annotator: match by term: FACIOOCULOACOUSTICORENAL SYNDROME | ClinVar Annotator: match by term: LRP2-related condition	PMID:12923867|PMID:16199547|PMID:17576681|PMID:17632512|PMID:18414213|PMID:20301732|PMID:20359920|PMID:23048173|PMID:23992033|PMID:24406863|PMID:24876117|PMID:25158045|PMID:25682901|PMID:25741868|PMID:26118977|PMID:27884173|PMID:28492532|PMID:29992659|PMID:30311386|PMID:30900415|PMID:31216405|PMID:32238909|PMID:33103447|PMID:33461977|PMID:34979047|PMID:35599849|PMID:36807241|PMID:8266995|PMID:9475100|PMID:9536098
12123028	LRP2	LDL receptor related protein 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:68599	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25107291|PMID:25741868|PMID:26529358|PMID:28492532|PMID:30167849
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:68599	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25741868|PMID:26350204|PMID:26529358|PMID:28492532|PMID:30167849
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:68600	D	RGD:9068941	20220825	MouseDO		OMIM:134600 | OMIM:613388 | OMIM:615605	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:10763	hypertension		ISO	RGD:68407	D	RGD:9068941	20200609	RGD		protein:altered localization:apical plasma membrane	PMID:10919857|REF_RGD_ID:1641827
12123028	LRP2	LDL receptor related protein 2	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:68407	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:glomerulus	PMID:10919857|REF_RGD_ID:1641827
12123028	LRP2	LDL receptor related protein 2	gene	DOID:11193	syndactyly		ISO	RGD:68599	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Iron deficiency anemia	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:11782	astigmatism		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:11829	degenerative myopia		ISO	RGD:68600	D	RGD:9068941	20220825	MouseDO			
12123028	LRP2	LDL receptor related protein 2	gene	DOID:11830	myopia		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:12176	goiter		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1324	lung cancer		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:13620	patent foramen ovale		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:68599	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: congenital heart disease	PMID:18414213|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1826	epilepsy		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1909	melanoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:1929	supravalvular aortic stenosis		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Supravalvar aortic stenosis	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:2355	anemia		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:2527	nephrosis		ISO	RGD:68407	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:glomerulus	PMID:10919857|REF_RGD_ID:1641827
12123028	LRP2	LDL receptor related protein 2	gene	DOID:2658	dermoid cyst		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermoid cyst	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:3021	acute kidney failure		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29286200
12123028	LRP2	LDL receptor related protein 2	gene	DOID:3275	thymoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:68599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:557	kidney disease		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632512
12123028	LRP2	LDL receptor related protein 2	gene	DOID:5723	optic atrophy		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:576	proteinuria		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12123028	LRP2	LDL receptor related protein 2	gene	DOID:630	genetic disease		ISO	RGD:68599	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17632512|PMID:20359920|PMID:24406863|PMID:25158045|PMID:25682901|PMID:25741868|PMID:28492532|PMID:34979047
12123028	LRP2	LDL receptor related protein 2	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:68599	D	RGD:9068941	20200609	RGD			PMID:10404822|REF_RGD_ID:1641847
12123028	LRP2	LDL receptor related protein 2	gene	DOID:783	end stage renal disease		ISO	RGD:68407	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:15266031|REF_RGD_ID:1641836
12123028	LRP2	LDL receptor related protein 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:68599	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:28041643|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:68407	D	RGD:9068941	20200609	RGD			PMID:11841627|REF_RGD_ID:1641842
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9000972	Fever		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fever	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9001224	Striae Distensae		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9001542	Albuminuria		ISO	RGD:68407	D	RGD:9068941	20200609	RGD			PMID:12121845|REF_RGD_ID:1641839
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9002189	High Myopia		ISO	RGD:68599	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:17632512|PMID:25682901|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10052453
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22919386
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632512
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9002555	Cardiac, Facial, and Digital Anomalies with Developmental Delay		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac, facial, and digital anomalies with developmental delay	PMID:25741868
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:68599	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DSD incomplete virilization	PMID:20359920|PMID:25741868|PMID:28492532|PMID:34979047|PMID:36807241
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectopia lentis	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:68599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532|PMID:30311386|PMID:36807241
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:68407	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney, proximal convoluted tubule, apical plasma membrane	PMID:11685557|REF_RGD_ID:1641843
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10052453
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68599	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25158045|PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632512
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9008965	Bronchomalacia		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:68599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632512
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123028	LRP2	LDL receptor related protein 2	gene	DOID:930	orbital disease		ISO	RGD:68599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:28492532
12123028	LRP2	LDL receptor related protein 2	gene	DOID:9471	meningitis		ISO	RGD:68599	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:24406863|PMID:25158045|PMID:25741868|PMID:28492532
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:1606583	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotypes:cds:	PMID:15097232|REF_RGD_ID:1598505
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:61858	D	RGD:9068941	20200609	RGD		protein:decreased expression:cortex of kidney (rat)	PMID:23196710|REF_RGD_ID:13792785
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123117	GRK4	G protein-coupled receptor kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:1324	lung cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323663	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323663	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123137	ACIN1	apoptotic chromatin condensation inducer 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1323663	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1352951	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5	PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:0111329	pyridoxamine 5'-phosphate oxidase deficiency		ISO	RGD:1352951	D	RGD:7240710	20180130	OMIM			
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:0111329	pyridoxamine 5'-phosphate oxidase deficiency		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY | ClinVar Annotator: match by term: Pyridoxal phosphate-responsive seizures | ClinVar Annotator: match by term: Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency | ClinVar Annotator: match by term: Pyridoxamine 5-prime-phosphate oxidase deficiency	PMID:15182361|PMID:15772097|PMID:16199547|PMID:17216302|PMID:17576681|PMID:18296573|PMID:18485777|PMID:19759001|PMID:20370816|PMID:21292558|PMID:22858719|PMID:23419474|PMID:23430561|PMID:23708187|PMID:24266778|PMID:24297574|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:25979913|PMID:26077850|PMID:26303608|PMID:26467025|PMID:27014579|PMID:27419045|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28929476|PMID:28985901|PMID:29588952|PMID:29610166|PMID:31440721|PMID:32395712|PMID:32788630|PMID:32888189|PMID:33087887|PMID:33981986|PMID:34177756|PMID:34769443|PMID:35217610|PMID:35495162|PMID:35636100|PMID:35715422|PMID:36007526|PMID:36106796|PMID:36801247|PMID:9536098
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:1074	kidney failure		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:19759001|PMID:23708187|PMID:24266778|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28133863|PMID:28492532|PMID:28985901|PMID:36007526
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:15772097|PMID:24645144|PMID:25741868|PMID:28349276|PMID:28492532|PMID:34769443|PMID:36801247
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:11830	myopia		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:12849	autistic disorder		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:14264	benign neonatal seizures		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:19759001|PMID:23708187|PMID:24266778|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28133863|PMID:28492532|PMID:28985901|PMID:36007526
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:1596	depressive disorder		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:1824	status epilepticus		ISO	RGD:1352951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19356691
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:1826	epilepsy		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15772097|PMID:17216302|PMID:19759001|PMID:20370816|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25256445|PMID:25741868|PMID:25762494|PMID:26077850|PMID:26467025|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28985901|PMID:34769443|PMID:36007526|PMID:36801247
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:2030	anxiety disorder		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:2841	asthma		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1352951	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:5419	schizophrenia		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:630	genetic disease		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15182361|PMID:15772097|PMID:17216302|PMID:20370816|PMID:23419474|PMID:23708187|PMID:24266778|PMID:24645144|PMID:25256445|PMID:25741868|PMID:25979913|PMID:26467025|PMID:27781031|PMID:28133863|PMID:28349276|PMID:28492532|PMID:28985901|PMID:31440721|PMID:33087887|PMID:34769443|PMID:36801247
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth restriction	PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9003126	Hallucinations		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9004484	Sepsis		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:19759001|PMID:23708187|PMID:24266778|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28133863|PMID:28492532|PMID:28985901|PMID:36007526
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9006257	Growth Disorders		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Growth Retardation	PMID:24266778|PMID:24645144|PMID:24658933|PMID:24781210|PMID:25741868|PMID:25762494|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9007661	Dwarfism		ISO	RGD:1352951	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17216302|PMID:20370816|PMID:23419474|PMID:24645144|PMID:25256445|PMID:25741868|PMID:27781031|PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15772097|PMID:24645144|PMID:25741868|PMID:28349276|PMID:28492532|PMID:34769443|PMID:36801247
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:28492532
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:936	brain disease		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19759001|PMID:23708187|PMID:24266778|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28133863|PMID:28492532|PMID:28985901|PMID:36007526
12123175	PNPO	pyridoxamine 5'-phosphate oxidase	gene	DOID:9993	hypoglycemia		ISO	RGD:1352951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:19759001|PMID:23708187|PMID:24266778|PMID:25741868|PMID:26077850|PMID:26467025|PMID:28133863|PMID:28492532|PMID:28985901|PMID:36007526
12123186	C8G	complement C8 gamma chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123186	C8G	complement C8 gamma chain	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1319211	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12123186	C8G	complement C8 gamma chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123186	C8G	complement C8 gamma chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12123186	C8G	complement C8 gamma chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123186	C8G	complement C8 gamma chain	gene	DOID:6039	uveal melanoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12123186	C8G	complement C8 gamma chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123186	C8G	complement C8 gamma chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319211	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12123186	C8G	complement C8 gamma chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123186	C8G	complement C8 gamma chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123186	C8G	complement C8 gamma chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123201	FBF1	Fas binding factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:1909	melanoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123201	FBF1	Fas binding factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123201	FBF1	Fas binding factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123201	FBF1	Fas binding factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123201	FBF1	Fas binding factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123201	FBF1	Fas binding factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123253	SYNJ2	synaptojanin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69494	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:10534	stomach cancer		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123253	SYNJ2	synaptojanin 2	gene	DOID:1059	intellectual disability		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	
12123253	SYNJ2	synaptojanin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123253	SYNJ2	synaptojanin 2	gene	DOID:1115	sarcoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:1324	lung cancer		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123253	SYNJ2	synaptojanin 2	gene	DOID:1909	melanoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:4362	cervical cancer		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123253	SYNJ2	synaptojanin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123253	SYNJ2	synaptojanin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:69494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123253	SYNJ2	synaptojanin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123253	SYNJ2	synaptojanin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123253	SYNJ2	synaptojanin 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12123253	SYNJ2	synaptojanin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:69494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12123253	SYNJ2	synaptojanin 2	gene	DOID:9849	Meniere's disease		ISO	RGD:69494	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Meniere disease	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349644	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123285	TATDN2	TatD DNase domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123303	ANO7	anoctamin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123303	ANO7	anoctamin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123303	ANO7	anoctamin 7	gene	DOID:1324	lung cancer		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123303	ANO7	anoctamin 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123303	ANO7	anoctamin 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123303	ANO7	anoctamin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123303	ANO7	anoctamin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123303	ANO7	anoctamin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:7240710	20190315	OMIM			
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112071	nuclear type mitochondrial complex I deficiency 31		ISO	RGD:1351318	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 31 | ClinVar Annotator: match by term: TIMMDC1-related condition	PMID:25741868|PMID:28492532|PMID:28604674|PMID:33278652|PMID:33586140|PMID:33852835|PMID:35091571|PMID:35379322|PMID:36349561
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1351318	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3652	Leigh disease		ISO	RGD:1351318	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351318	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123337	TIMMDC1	translocase of inner mitochondrial membrane domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12123348	FBXL7	F-box and leucine rich repeat protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123348	FBXL7	F-box and leucine rich repeat protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123348	FBXL7	F-box and leucine rich repeat protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123348	FBXL7	F-box and leucine rich repeat protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314074	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123359	PMM2	phosphomannomutase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0050570	congenital disorder of glycosylation type I		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type I	PMID:10386614|PMID:10527672|PMID:10571956|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:12626389|PMID:12705494|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:18948042|PMID:19357119|PMID:19396570|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22223895|PMID:22814378|PMID:22975760|PMID:23430838|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28940310|PMID:29470411|PMID:30061496|PMID:30740725|PMID:30873657|PMID:31474318|PMID:32581362|PMID:32635232|PMID:32860008|PMID:34420056|PMID:38599261|PMID:9140401|PMID:9497260|PMID:9710598|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:10386614|PMID:10527672|PMID:10571956|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16376131|PMID:16540464|PMID:16825284|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1319677	D	RGD:7240710	20180130	OMIM			
12123359	PMM2	phosphomannomutase 2	gene	DOID:0080552	congenital disorder of glycosylation Ia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1a | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type Ia | ClinVar Annotator: match by term: PMM2-congenital disorder of glycosylation | ClinVar Annotator: match by term: PMM2-related condition	PMID:10066032|PMID:10386614|PMID:10527672|PMID:10571009|PMID:10571956|PMID:10602363|PMID:10700701|PMID:10801058|PMID:10854097|PMID:10896303|PMID:10922383|PMID:11058895|PMID:11058896|PMID:11134235|PMID:11142762|PMID:11148191|PMID:11156536|PMID:11350185|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11589167|PMID:11715002|PMID:11875054|PMID:11891694|PMID:11916319|PMID:12244009|PMID:12297897|PMID:12357336|PMID:12529711|PMID:12626389|PMID:12705494|PMID:12905014|PMID:13129599|PMID:15272470|PMID:15277997|PMID:15520415|PMID:15645285|PMID:15714316|PMID:15844218|PMID:16009061|PMID:16085795|PMID:16199547|PMID:16376131|PMID:16435227|PMID:16540464|PMID:16825284|PMID:16941129|PMID:17158594|PMID:17166182|PMID:17307006|PMID:17308246|PMID:17451957|PMID:17576681|PMID:18093857|PMID:18203160|PMID:18485644|PMID:18571450|PMID:18629883|PMID:18948042|PMID:19101518|PMID:19165618|PMID:19168813|PMID:19235233|PMID:19357119|PMID:19396570|PMID:19862844|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:21937992|PMID:21949237|PMID:22012410|PMID:22223895|PMID:22649348|PMID:22801829|PMID:22814378|PMID:22975760|PMID:23045520|PMID:23430838|PMID:23430905|PMID:23430927|PMID:23806237|PMID:23988505|PMID:24033266|PMID:24037084|PMID:24139637|PMID:24424129|PMID:24493206|PMID:24498599|PMID:24739649|PMID:25167861|PMID:25192236|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25525159|PMID:25640679|PMID:25681648|PMID:25741868|PMID:26014514|PMID:26206375|PMID:26425584|PMID:26488408|PMID:26502900|PMID:26629787|PMID:26633542|PMID:26887550|PMID:27053713|PMID:27214821|PMID:28122681|PMID:28139241|PMID:28373276|PMID:28425223|PMID:28454995|PMID:28492532|PMID:28807751|PMID:28820871|PMID:28915903|PMID:28940310|PMID:28954837|PMID:29361989|PMID:29470411|PMID:29701302|PMID:30061496|PMID:30304743|PMID:30397276|PMID:30406445|PMID:30577886|PMID:30687093|PMID:30740725|PMID:30873657|PMID:30991241|PMID:31115488|PMID:31117816|PMID:31391289|PMID:31474318|PMID:31785789|PMID:31870226|PMID:31902100|PMID:31980526|PMID:31981409|PMID:32005694|PMID:32457805|PMID:32581362|PMID:32635232|PMID:32860008|PMID:32874916|PMID:33057194|PMID:33101984|PMID:33133147|PMID:33163565|PMID:33176815|PMID:33209585|PMID:33340551|PMID:33407696|PMID:33413482|PMID:33532864|PMID:33580824|PMID:33583911|PMID:33643843|PMID:33663989|PMID:33726816|PMID:33743737|PMID:33858316|PMID:33921431|PMID:33960646|PMID:34277356|PMID:34420056|PMID:34440401|PMID:34652821|PMID:34682117|PMID:34732400|PMID:34828263|PMID:34859900|PMID:35279850|PMID:35281664|PMID:35308014|PMID:35780510|PMID:35789514|PMID:36099812|PMID:36719165|PMID:37042760|PMID:37224763|PMID:37245379|PMID:37542768|PMID:37597336|PMID:37876147|PMID:38587076|PMID:38599261|PMID:38917675|PMID:38959600|PMID:39105373|PMID:39216211|PMID:39633515|PMID:39923392|PMID:40121796|PMID:40307862|PMID:40555085|PMID:40737785|PMID:9140401|PMID:9497260|PMID:9536098|PMID:9710598|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:10801058|PMID:11156536|PMID:11589167|PMID:11891694|PMID:15714316|PMID:15844218|PMID:20301289|PMID:20638314|PMID:21541725|PMID:23430838|PMID:23988505|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:9140401
12123359	PMM2	phosphomannomutase 2	gene	DOID:1059	intellectual disability		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:15844218|PMID:20638314|PMID:25497157|PMID:25741868|PMID:28492532
12123359	PMM2	phosphomannomutase 2	gene	DOID:10907	microcephaly		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123359	PMM2	phosphomannomutase 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
12123359	PMM2	phosphomannomutase 2	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
12123359	PMM2	phosphomannomutase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:1826	epilepsy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:20638314|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:2355	anemia		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:33583911
12123359	PMM2	phosphomannomutase 2	gene	DOID:3310	atopic dermatitis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28492532|PMID:33583911
12123359	PMM2	phosphomannomutase 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
12123359	PMM2	phosphomannomutase 2	gene	DOID:4189	mutism		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123359	PMM2	phosphomannomutase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123359	PMM2	phosphomannomutase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:10571956|PMID:11134235|PMID:15844218|PMID:16376131|PMID:16825284|PMID:19357119|PMID:20301289|PMID:25741868|PMID:28492532|PMID:31474318
12123359	PMM2	phosphomannomutase 2	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:540	strabismus		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:543	dystonia		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:34440401|PMID:9536098
12123359	PMM2	phosphomannomutase 2	gene	DOID:630	genetic disease		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11715002|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:19862844|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22012410|PMID:22975760|PMID:23430905|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28122681|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28807751|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:35780510|PMID:39923392|PMID:40886090|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:6364	migraine		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:8488	polyhydramnios		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:11156536|PMID:11409861|PMID:11715002|PMID:15844218|PMID:17166182|PMID:21541725|PMID:22012410|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26014514|PMID:28492532|PMID:28807751|PMID:35780510|PMID:39923392|PMID:9497260
12123359	PMM2	phosphomannomutase 2	gene	DOID:9000343	Vision Disorders		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9000495	Tremor		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:10801058|PMID:11058895|PMID:11715002|PMID:18203160|PMID:20301289|PMID:21949237|PMID:25741868|PMID:28492532|PMID:32635232|PMID:33413482
12123359	PMM2	phosphomannomutase 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319677	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9004030	Pituitary Stalk Interruption Syndrome		ISO	RGD:1319677	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	PMID:25741868
12123359	PMM2	phosphomannomutase 2	gene	DOID:9004866	Ataxia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319677	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11156536|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11715002|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17186415|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22012410|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28566178|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33163565|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123359	PMM2	phosphomannomutase 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9007874	Liver Failure		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:10571956|PMID:11134235|PMID:15844218|PMID:16376131|PMID:16825284|PMID:19357119|PMID:20301289|PMID:25741868|PMID:28492532|PMID:31474318
12123359	PMM2	phosphomannomutase 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay	PMID:10527672|PMID:10571956|PMID:11134235|PMID:11156536|PMID:12607543|PMID:12705494|PMID:15645285|PMID:15844218|PMID:16376131|PMID:16825284|PMID:17166182|PMID:17920054|PMID:19357119|PMID:19396570|PMID:20301289|PMID:21541725|PMID:22012410|PMID:24739649|PMID:25355454|PMID:25497157|PMID:25741868|PMID:26502900|PMID:28492532|PMID:31474318|PMID:32071842|PMID:33340551|PMID:33413482|PMID:33583911|PMID:35279850
12123359	PMM2	phosphomannomutase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319677	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12123359	PMM2	phosphomannomutase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123359	PMM2	phosphomannomutase 2	gene	DOID:93	language disorder		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9834	hyperopia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9840	esotropia		ISO	RGD:1319677	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:33583911|PMID:9140401|PMID:9497260|PMID:9781039
12123359	PMM2	phosphomannomutase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1319677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:10386614|PMID:10527672|PMID:10700701|PMID:10854097|PMID:10922383|PMID:11058895|PMID:11134235|PMID:11409861|PMID:11517108|PMID:11530212|PMID:11916319|PMID:12244009|PMID:15844218|PMID:16540464|PMID:17166182|PMID:17451957|PMID:19357119|PMID:20301289|PMID:21228398|PMID:21541725|PMID:22975760|PMID:24424129|PMID:25333069|PMID:25355454|PMID:25741868|PMID:26014514|PMID:26488408|PMID:28373276|PMID:28425223|PMID:28492532|PMID:28940310|PMID:30061496|PMID:30740725|PMID:31474318|PMID:32581362|PMID:32860008|PMID:9140401|PMID:9497260|PMID:9781039
12123375	FCAMR	Fc alpha and mu receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123375	FCAMR	Fc alpha and mu receptor	gene	DOID:1909	melanoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123375	FCAMR	Fc alpha and mu receptor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123375	FCAMR	Fc alpha and mu receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123375	FCAMR	Fc alpha and mu receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:1605024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:0050646	distal arthrogryposis		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:0050763	ARC syndrome		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARC Syndrome | ClinVar Annotator: match by term: Arthrogryposis-renal dysfunction-cholestasis syndrome	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532|PMID:31319225
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2		ISO	RGD:1351893	D	RGD:7240710	20190918	OMIM			
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:0111354	arthrogryposis, renal dysfunction, and cholestasis 2		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 | ClinVar Annotator: match by term: Arthrogryposis, renal dysfunction, and cholestasis 2 | ClinVar Annotator: match by term: VIPAS39-related condition	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532|PMID:31479177
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:10907	microcephaly		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:13580	cholestasis		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1351893	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:576	proteinuria		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:630	genetic disease		ISO	RGD:1351893	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20190753|PMID:22753090|PMID:25741868|PMID:28492532
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123384	VIPAS39	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1351893	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12123410	PRKCA	protein kinase C alpha	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:737062	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:15454252|REF_RGD_ID:2292458
12123410	PRKCA	protein kinase C alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29341352
12123410	PRKCA	protein kinase C alpha	gene	DOID:0080820	occupational asthma		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27504716
12123410	PRKCA	protein kinase C alpha	gene	DOID:10286	prostate carcinoma		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:9474241|REF_RGD_ID:2292463
12123410	PRKCA	protein kinase C alpha	gene	DOID:10534	stomach cancer		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123410	PRKCA	protein kinase C alpha	gene	DOID:10763	hypertension		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:15792354|REF_RGD_ID:1581271
12123410	PRKCA	protein kinase C alpha	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:737062	D	RGD:9068941	20200609	RGD		protein:altered localization:urinary bladder	PMID:15922420|REF_RGD_ID:2298669
12123410	PRKCA	protein kinase C alpha	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:737062	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:16008942|REF_RGD_ID:2292455
12123410	PRKCA	protein kinase C alpha	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25006961
12123410	PRKCA	protein kinase C alpha	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:9918525|REF_RGD_ID:1581274
12123410	PRKCA	protein kinase C alpha	gene	DOID:1324	lung cancer		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123410	PRKCA	protein kinase C alpha	gene	DOID:1785	pituitary cancer		ISO	RGD:737062	D	RGD:8554872	20250819	ClinVar		ClinVar Annotator: match by term: PRKCA-related disorder	PMID:28492532
12123410	PRKCA	protein kinase C alpha	gene	DOID:1909	melanoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123410	PRKCA	protein kinase C alpha	gene	DOID:2316	brain ischemia		ISO	RGD:3395	D	RGD:9068941	20200609	RGD		associated with Subarachnoid Hemorrhage;protein:increased  phosphorylation:cerebral artery	PMID:18032736|REF_RGD_ID:2293301
12123410	PRKCA	protein kinase C alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123410	PRKCA	protein kinase C alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:10589745|REF_RGD_ID:2298671
12123410	PRKCA	protein kinase C alpha	gene	DOID:2871	endometrial carcinoma		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:11371124|REF_RGD_ID:2292462
12123410	PRKCA	protein kinase C alpha	gene	DOID:3070	high grade glioma		ISO	RGD:737062	D	RGD:9068941	20200609	RGD		DNA:gene fusion: :	PMID:26671581|REF_RGD_ID:11087038
12123410	PRKCA	protein kinase C alpha	gene	DOID:326	ischemia		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:17700073|REF_RGD_ID:2292478
12123410	PRKCA	protein kinase C alpha	gene	DOID:3275	thymoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123410	PRKCA	protein kinase C alpha	gene	DOID:3774	chordoid glioma		ISO	RGD:737062	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:c.1387G>C,p.D463H(human)	PMID:29476136|REF_RGD_ID:13782058
12123410	PRKCA	protein kinase C alpha	gene	DOID:4001	ovarian carcinoma	severity	ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:12888898|REF_RGD_ID:2292460
12123410	PRKCA	protein kinase C alpha	gene	DOID:4362	cervical cancer		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123410	PRKCA	protein kinase C alpha	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123410	PRKCA	protein kinase C alpha	gene	DOID:4552	large cell carcinoma		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:9474241|REF_RGD_ID:2292463
12123410	PRKCA	protein kinase C alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123410	PRKCA	protein kinase C alpha	gene	DOID:6000	congestive heart failure		ISO	RGD:3395	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:heart left ventricle	PMID:17556659|REF_RGD_ID:2292480
12123410	PRKCA	protein kinase C alpha	gene	DOID:6039	uveal melanoma		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12123410	PRKCA	protein kinase C alpha	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:737062	D	RGD:9068941	20200609	RGD		DNA:point mutation:somatic:D294G	PMID:8077302|REF_RGD_ID:1601471
12123410	PRKCA	protein kinase C alpha	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11983831
12123410	PRKCA	protein kinase C alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:15792354|REF_RGD_ID:1581271
12123410	PRKCA	protein kinase C alpha	gene	DOID:9003936	Cardiomegaly		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21565836
12123410	PRKCA	protein kinase C alpha	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:17905752|REF_RGD_ID:2292474
12123410	PRKCA	protein kinase C alpha	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:12619877|REF_RGD_ID:1581273
12123410	PRKCA	protein kinase C alpha	gene	DOID:9005274	Polyuria		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25006961
12123410	PRKCA	protein kinase C alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12198386
12123410	PRKCA	protein kinase C alpha	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3395	D	RGD:9068941	20200609	RGD			PMID:15532718|REF_RGD_ID:1581272
12123410	PRKCA	protein kinase C alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123410	PRKCA	protein kinase C alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737062	D	RGD:9068941	20200609	RGD			PMID:17965220|PMID:9474241|REF_RGD_ID:2292446|REF_RGD_ID:2292463
12123410	PRKCA	protein kinase C alpha	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737062	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:15454252|REF_RGD_ID:2292458
12123410	PRKCA	protein kinase C alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123410	PRKCA	protein kinase C alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123434	SOST	sclerostin	gene	DOID:0060251	sclerosteosis		ISO	RGD:737334	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12123434	SOST	sclerostin	gene	DOID:0060251	sclerosteosis		ISO	RGD:737334	D	RGD:9068941	20260521	RGD		DNA:transition: :69C>T (human)	PMID:11179006|REF_RGD_ID:68858
12123434	SOST	sclerostin	gene	DOID:0060756	sclerosteosis 1		ISO	RGD:737334	D	RGD:7240710	20180314	OMIM			
12123434	SOST	sclerostin	gene	DOID:0060756	sclerosteosis 1		ISO	RGD:737334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCLEROSTEOSIS 1 | ClinVar Annotator: match by term: SOST-related condition | ClinVar Annotator: match by term: Sclerosteosis 1	PMID:11179006|PMID:11181578|PMID:19072561|PMID:20301406|PMID:25741868|PMID:25984533|PMID:28492532
12123434	SOST	sclerostin	gene	DOID:0080036	SOST-related sclerosing bone dysplasia		ISO	RGD:737335	D	RGD:9068941	20230506	MouseDO		OMIM:239100	
12123434	SOST	sclerostin	gene	DOID:0080807	autosomal dominant craniodiaphyseal dysplasia		ISO	RGD:737334	D	RGD:7240710	20180130	OMIM			
12123434	SOST	sclerostin	gene	DOID:0080807	autosomal dominant craniodiaphyseal dysplasia		ISO	RGD:737334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Craniodiaphyseal dysplasia, autosomal dominant	PMID:25741868
12123434	SOST	sclerostin	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:737334	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	
12123434	SOST	sclerostin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123434	SOST	sclerostin	gene	DOID:630	genetic disease		ISO	RGD:737334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:25741868|PMID:28492532|PMID:29068549|PMID:29241935|PMID:36268591|PMID:36653407
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1342520	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:24183449|PMID:24183451|PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1342520	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Asphyxiating thoracic dystrophy 3	
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:7240710	20180130	OMIM			
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:0110095	short-rib thoracic dysplasia 11 with or without polydactyly		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYNC2I2-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 11 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:24183449|PMID:24183451|PMID:25741868|PMID:28379358|PMID:28492532|PMID:29068549|PMID:29241935|PMID:31130284|PMID:32576942|PMID:36268591|PMID:36653407|PMID:9536098
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:1115	sarcoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:1324	lung cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:1909	melanoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:630	genetic disease		ISO	RGD:1342520	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:17576681|PMID:24183451|PMID:25741868|PMID:28492532|PMID:9536098
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1342520	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12123440	DYNC2I2	dynein 2 intermediate chain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:0060058	lymphoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:1115	sarcoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:5041	esophageal cancer		ISO	RGD:1320580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123454	RAB6B	RAB6B, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:10534	stomach cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:1909	melanoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:3275	thymoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123471	PWWP3A	PWWP domain containing 3A, DNA repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123502	FOXR2	forkhead box R2	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1352257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685747
12123506	LSAMP	limbic system associated membrane protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123506	LSAMP	limbic system associated membrane protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123506	LSAMP	limbic system associated membrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1347242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318705	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :rs1048661, rs2165241, rs3825942 (human)	PMID:19098994|REF_RGD_ID:7387330
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:1070	primary open angle glaucoma	no_association	ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)	PMID:18223248|REF_RGD_ID:7394723
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:10873	Kuhnt-Junius degeneration		ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.R141L (human)	PMID:21236409|REF_RGD_ID:7387334
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17456585
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:13550	angle-closure glaucoma	no_association	ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human)	PMID:18223248|REF_RGD_ID:7394723
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1318705	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EXFOLIATION SYNDROME, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: LOXL1-related condition	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:13641	exfoliation syndrome	no_association	ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:CNVs	PMID:23288989|REF_RGD_ID:7387333
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:13641	exfoliation syndrome	susceptibility	ISO	RGD:1318705	D	RGD:7240710	20190502	OMIM			
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:3275	thymoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1318705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097701
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1318706	D	RGD:9068941	20200609	RGD			PMID:18296663|REF_RGD_ID:7394725
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9001330	Urinary Incontinence, Stress		ISO	RGD:1318705	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:exon, intron:rs1048661, rs2165241 (human)	PMID:22765198|REF_RGD_ID:7394729
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1308752	D	RGD:9068941	20200609	RGD			PMID:17378376|REF_RGD_ID:7394734
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:1318705	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20045017
12123529	LOXL1	lysyl oxidase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318705	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123626	SIMC1	SUMO interacting motifs containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604161	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123643	C6H16orf89	chromosome 6 C16orf89 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123657	THEM4	thioesterase superfamily member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123657	THEM4	thioesterase superfamily member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123657	THEM4	thioesterase superfamily member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123657	THEM4	thioesterase superfamily member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23392203
12123657	THEM4	thioesterase superfamily member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123681	PRSS53	serine protease 53	gene	DOID:1115	sarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123681	PRSS53	serine protease 53	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123681	PRSS53	serine protease 53	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123681	PRSS53	serine protease 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123681	PRSS53	serine protease 53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123681	PRSS53	serine protease 53	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123681	PRSS53	serine protease 53	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2860194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123727	RAD51	RAD51 recombinase	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1563603	D	RGD:9068941	20200609	RGD			PMID:22384017|REF_RGD_ID:7240549
12123727	RAD51	RAD51 recombinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123727	RAD51	RAD51 recombinase	gene	DOID:0060260	ptosis		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:0070637	mirror movements 2		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
12123727	RAD51	RAD51 recombinase	gene	DOID:0070637	mirror movements 2		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MIRROR MOVEMENTS 2 | ClinVar Annotator: match by term: Mirror movements 2	PMID:21242494|PMID:24808016|PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:0111090	Fanconi anemia complementation group R		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
12123727	RAD51	RAD51 recombinase	gene	DOID:0111090	Fanconi anemia complementation group R		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group R	PMID:25741868|PMID:26253028|PMID:26681308
12123727	RAD51	RAD51 recombinase	gene	DOID:10488	imperforate anus		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:10534	stomach cancer		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123727	RAD51	RAD51 recombinase	gene	DOID:10763	hypertension	treatment	ISO	RGD:1563603	D	RGD:9068941	20210611	RGD			PMID:24239235|REF_RGD_ID:8693672
12123727	RAD51	RAD51 recombinase	gene	DOID:10907	microcephaly		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:11830	myopia		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:12215	oligohydramnios		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer		ISO	RGD:1316727	D	RGD:7240710	20260812	OMIM			
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer	resistance	ISO	RGD:1316727	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :135G>C	PMID:17301259|REF_RGD_ID:2298722
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:9068941	20260813	RGD		DNA:SNPs	PMID:16624550|REF_RGD_ID:2292637
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:9068941	20260813	RGD		DNA:deletion, loss of heterozygosity	PMID:17180310|REF_RGD_ID:2292636
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:9068941	20260813	RGD		DNA:polymorphism: :135G>C	PMID:17999359|REF_RGD_ID:2292634
12123727	RAD51	RAD51 recombinase	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1316727	D	RGD:9068941	20260813	RGD		DNA:repeat	PMID:18429825|REF_RGD_ID:2292632
12123727	RAD51	RAD51 recombinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1563603	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:20197614|REF_RGD_ID:9831172
12123727	RAD51	RAD51 recombinase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:1909	melanoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123727	RAD51	RAD51 recombinase	gene	DOID:2152	ovary epithelial cancer	no_association	ISO	RGD:1316727	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :135G>C, 172G>T	PMID:15924337|REF_RGD_ID:2298723
12123727	RAD51	RAD51 recombinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1316727	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:2394	ovarian cancer	resistance	ISO	RGD:1316727	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :135G>C	PMID:17301259|REF_RGD_ID:2298722
12123727	RAD51	RAD51 recombinase	gene	DOID:3275	thymoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123727	RAD51	RAD51 recombinase	gene	DOID:4362	cervical cancer		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123727	RAD51	RAD51 recombinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123727	RAD51	RAD51 recombinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123727	RAD51	RAD51 recombinase	gene	DOID:630	genetic disease		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22305526|PMID:25741868|PMID:26681308|PMID:28492532
12123727	RAD51	RAD51 recombinase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1316727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
12123727	RAD51	RAD51 recombinase	gene	DOID:9001581	Constipation		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1563603	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:17219426|REF_RGD_ID:2292638
12123727	RAD51	RAD51 recombinase	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9002669	Hypoxia		ISO	RGD:1563603	D	RGD:9068941	20200609	RGD		associated with Gliosarcoma;mRNA:decreased expression:tumor (rat)	PMID:21266355|REF_RGD_ID:9831171
12123727	RAD51	RAD51 recombinase	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:15908697|PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9005329	Preaxial Polydactyly		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Preaxial polydactyly	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:1316727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22613844
12123727	RAD51	RAD51 recombinase	gene	DOID:9006432	Brachydactyly, Type E		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachydactyly type E	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1316727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9885240
12123727	RAD51	RAD51 recombinase	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1316727	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34998818
12123727	RAD51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10807537|PMID:25741868|PMID:28492532|PMID:30613976|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10807537|PMID:25741868|PMID:28492532|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:9007661	Dwarfism		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12123727	RAD51	RAD51 recombinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1316727	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12123727	RAD51	RAD51 recombinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316727	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10807537|PMID:21242494|PMID:22305526|PMID:25741868|PMID:27830107|PMID:28492532|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532|PMID:29100040|PMID:33116287
12123727	RAD51	RAD51 recombinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:62205	D	RGD:9068941	20220825	MouseDO		OMIM:268000	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:1115	sarcoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:11372	megacolon		ISO	RGD:69004	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:1909	melanoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:3275	thymoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:4362	cervical cancer		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:4752	multiple system atrophy		ISO	RGD:62205	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex:	PMID:24304186|REF_RGD_ID:11553929
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:4752	multiple system atrophy		ISO	RGD:69004	D	RGD:9068941	20200609	RGD		protein:decreased expression:frontal cortex:	PMID:24304186|REF_RGD_ID:11553929
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:69004	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:8466	retinal degeneration		ISO	RGD:69004	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:25741868|PMID:31345061|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9004147	Anosmia		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hyposmia	PMID:25741868|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9004496	Hypertaurinuric Cardiomyopathy		ISO	RGD:69004	D	RGD:7240710	20210707	OMIM			
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9004496	Hypertaurinuric Cardiomyopathy		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertaurinuric cardiomyopathy	PMID:25741868|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9649	congenital nystagmus		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	PMID:25741868|PMID:31903486
12123746	SLC6A6	solute carrier family 6 member 6	gene	DOID:9970	obesity		ISO	RGD:69004	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:31903486
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0060260	ptosis		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:7240710	20180130	OMIM			
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0060745	Doyne honeycomb retinal dystrophy		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Doyne honeycomb retinal dystrophy	PMID:25741868|PMID:28492532
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:0080073	spina bifida occulta		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1068	juvenile glaucoma		ISO	RGD:1318351	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Glaucoma of childhood	PMID:28492532|PMID:32476818|PMID:34923728
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:10808	gastric ulcer		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric ulcer	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:11353	bladder diverticulum		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diverticulum of bladder	PMID:25741868|PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:11830	myopia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:11914	gastroparesis		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:12642	hiatus hernia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hiatus hernia	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1283	enterocele		ISO	RGD:1318352	D	RGD:9068941	20200609	RGD			PMID:17872905|REF_RGD_ID:10401789
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:13250	diarrhea		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1432	blindness		ISO	RGD:1318351	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1596	depressive disorder		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318351	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27032653
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208748
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:255	hemangioma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:305	carcinoma		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318351	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:19887559|REF_RGD_ID:10401656
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318351	D	RGD:9068941	20200609	RGD		protein:altered expression: :	PMID:12242346|REF_RGD_ID:10401794
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318352	D	RGD:9068941	20200609	RGD			PMID:17666404|REF_RGD_ID:10401788
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1318352	D	RGD:9068941	20200609	RGD			PMID:17872905|REF_RGD_ID:10401789
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:5679	retinal disease		ISO	RGD:1318351	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10369267|PMID:11384588|PMID:12242346|PMID:15785976|PMID:17666404|PMID:18791549|PMID:22031286|PMID:22159686|PMID:25077532|PMID:25111685|PMID:25741868|PMID:26427406|PMID:27777122|PMID:28492532|PMID:30541486|PMID:33019987|PMID:33542268|PMID:33546218|PMID:33689237|PMID:36460718
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:5723	optic atrophy		ISO	RGD:1318351	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:630	genetic disease		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:65	connective tissue disease		ISO	RGD:1318351	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:22031286|PMID:25741868|PMID:31792352|PMID:33807164|PMID:34923728
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:657	adenoma		ISO	RGD:1318351	D	RGD:9068941	20200609	RGD		protein:decreased expression: :	PMID:24080855|REF_RGD_ID:10401654
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1318351	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver:	PMID:23936443|REF_RGD_ID:10401793
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:8437	intestinal obstruction		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:8445	intestinal volvulus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26162006|PMID:28492532|PMID:33542268|PMID:34923728
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9000053	Headache		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9000766	Incisional Hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Incisional hernia	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9002189	High Myopia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1318351	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22275171|REF_RGD_ID:10401792
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9002644	Premature Aging		ISO	RGD:1318352	D	RGD:9068941	20200609	RGD			PMID:17872905|REF_RGD_ID:10401789
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9003598	Glaucoma 1, Open Angle, H		ISO	RGD:1318351	D	RGD:7240710	20240313	OMIM			
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9003598	Glaucoma 1, Open Angle, H		ISO	RGD:1318351	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: GLAUCOMA 1, OPEN ANGLE, H | ClinVar Annotator: match by term: GLC1H | ClinVar Annotator: match by term: Glaucoma 1, open angle, H	PMID:28492532|PMID:32476818|PMID:34923728
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9003760	Myalgia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9004455	Femoral Hernia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Femoral hernia	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005096	Cystocele		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cystocele	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17671114
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:31792352
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9005916	Radial Drusen, Autosomal Dominant		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DRUSEN, RADIAL, AUTOSOMAL DOMINANT	PMID:25741868|PMID:28492532
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9006065	Arthralgia		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9007529	Marfan Syndrome, Autosomal Recessive		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Recessive Marfanoid Syndrome with Severe Herniation	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008148	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D		ISO	RGD:1318351	D	RGD:7240710	20240515	OMIM			
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008148	CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type 1d	PMID:25741868|PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008385	Vomiting		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17892325
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008589	Hallux Valgus		ISO	RGD:1318351	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:28492532|PMID:32006683
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19115204
12123764	EFEMP1	EGF containing fibulin extracellular matrix protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318351	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:7240710	20211222	OMIM			
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:0061062	immunodeficiency 92		ISO	RGD:1322580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 92 | ClinVar Annotator: match by term: Immunodeficiency 92 | ClinVar Annotator: match by term: REL-related condition | ClinVar Annotator: match by term: immunodeficiency 92	PMID:25741868|PMID:28492532
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:1115	sarcoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:1612	breast cancer		ISO	RGD:1322580	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:tumor:increased protein levels and nuclear translocation vs adjacent normal breast tissue	PMID:10713699|REF_RGD_ID:2300275
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1322580	D	RGD:9068941	20200609	RGD		Urinary bladder TCC;  protein, mRNA:altered localization, increased expression:tumor:increased expression (p<0.01) and increased nuclear localization (p<0.01) vs adjacent non-cancerous bladder mucosa	PMID:12452071|REF_RGD_ID:2300270
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19503088|PMID:20453842|PMID:23143596
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21037568
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:8893	psoriasis		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953190
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:8929	atrophic gastritis		ISO	RGD:1322581	D	RGD:9068941	20201218	RGD		associated with Helicobacter Infections	PMID:23975431|REF_RGD_ID:40902973
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322581	D	RGD:9068941	20200609	RGD		DNA:transgene:mammary gland:mouse c-Rel cDNA driven by the MMTV-LTR promoter	PMID:12897145|REF_RGD_ID:2300264
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9000495	Tremor		ISO	RGD:1322580	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9000831	Hypokinesia		ISO	RGD:1322580	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31481676
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9004649	Heat Stroke		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20477932
12123785	REL	REL proto-oncogene, NF-kB subunit	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1322581	D	RGD:9068941	20201218	RGD		associated with Experimental Colitis	PMID:25727407|REF_RGD_ID:40902978
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732190	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0060868	leukoencephalopathy with vanishing white matter		ISO	RGD:732190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter | ClinVar Annotator: match by term: Vanishing white matter leukodystrophy	PMID:16807905|PMID:18263758|PMID:22312164|PMID:24028880|PMID:25079571|PMID:25741868|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:32180488|PMID:33432707|PMID:33517449|PMID:34745209|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0070367	leukoencephalopathy with vanishing white matter 5		ISO	RGD:732190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cree leukoencephalopathy	PMID:16807905|PMID:18263758|PMID:25741868|PMID:31072091|PMID:32180488|PMID:33432707|PMID:33517449|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0070372	leukoencephalopathy with vanishing white matter 3		ISO	RGD:732190	D	RGD:7240710	20230505	OMIM			
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0070372	leukoencephalopathy with vanishing white matter 3		ISO	RGD:732190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF2B3-related condition | ClinVar Annotator: match by term: LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER 3 | ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 3	PMID:11835386|PMID:15776425|PMID:17576681|PMID:19158808|PMID:20016818|PMID:22312164|PMID:23115207|PMID:23932106|PMID:25079571|PMID:25135182|PMID:25741868|PMID:25761052|PMID:26467025|PMID:28492532|PMID:31418856|PMID:31438897|PMID:33084218|PMID:33432707|PMID:33517449|PMID:34745209|PMID:35783294|PMID:37171481|PMID:38703036|PMID:9536098
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:0070374	leukoencephalopathy with vanishing white matter 1		ISO	RGD:732190	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy with vanishing white matter 1	PMID:16807905|PMID:18263758|PMID:22312164|PMID:24028880|PMID:25079571|PMID:25741868|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091|PMID:32180488|PMID:33109206|PMID:33432707|PMID:33517449|PMID:34745209|PMID:34755279|PMID:36380532|PMID:37981684|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegic cerebral palsy	PMID:25741868|PMID:31072091|PMID:33517449|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:1115	sarcoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:1324	lung cancer		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:4362	cervical cancer		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:732190	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:630	genetic disease		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the mitochondrion	PMID:25741868|PMID:31072091|PMID:33517449|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:732190	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: CACH syndrome | ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:11835386|PMID:16807905|PMID:18263758|PMID:18414213|PMID:19158808|PMID:19909266|PMID:20301435|PMID:21484434|PMID:22312164|PMID:23932106|PMID:24028880|PMID:25079571|PMID:25326635|PMID:25741868|PMID:25761052|PMID:26162493|PMID:26467025|PMID:28492532|PMID:31072091
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CACH/VWM syndrome	PMID:22312164|PMID:24028880|PMID:25079571|PMID:25741868|PMID:26162493|PMID:26467025|PMID:28492532|PMID:33432707|PMID:34745209
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31072091|PMID:33517449|PMID:38277958
12123812	EIF2B3	eukaryotic translation initiation factor 2B subunit gamma	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737089	D	RGD:9068941	20240425	MouseDO			
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:305	carcinoma		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988084
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005587	Starvation		ISO	RGD:2015	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:15811777|REF_RGD_ID:1625742
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9452481
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1342971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:16788709|REF_RGD_ID:1625735
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:1342971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:1342971	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:16788709|REF_RGD_ID:1625735
12123831	ACSL1	acyl-CoA synthetase long chain family member 1	gene	DOID:9970	obesity		ISO	RGD:2015	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:adipose tissue, liver	PMID:1543733|REF_RGD_ID:1625737
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1115	sarcoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:1909	melanoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123866	DNAJC15	DnaJ heat shock protein family (Hsp40) member C15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12123879	SELENOT	selenoprotein T	gene	DOID:4362	cervical cancer		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12123879	SELENOT	selenoprotein T	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123879	SELENOT	selenoprotein T	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123889	PI3	peptidase inhibitor 3	gene	DOID:2773	contact dermatitis		ISO	RGD:1344308	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12123889	PI3	peptidase inhibitor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123896	ZCRB1	zinc finger CCHC-type and RNA binding motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604568	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123913	SEPTIN11	septin 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123913	SEPTIN11	septin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123913	SEPTIN11	septin 11	gene	DOID:0050950	autosomal recessive cerebellar ataxia		ISO	RGD:1349067	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia	PMID:25741868
12123913	SEPTIN11	septin 11	gene	DOID:10534	stomach cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123913	SEPTIN11	septin 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123913	SEPTIN11	septin 11	gene	DOID:1324	lung cancer		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123913	SEPTIN11	septin 11	gene	DOID:14749	methylmalonic acidemia		ISO	RGD:1349067	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16823967
12123913	SEPTIN11	septin 11	gene	DOID:3275	thymoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123913	SEPTIN11	septin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123913	SEPTIN11	septin 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123938	KNG1	kininogen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123938	KNG1	kininogen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12123938	KNG1	kininogen 1	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs710446(human)	PMID:26159646|REF_RGD_ID:10411883
12123938	KNG1	kininogen 1	gene	DOID:0060903	thrombosis		ISO	RGD:1603713	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thrombus	PMID:25741868
12123938	KNG1	kininogen 1	gene	DOID:0080941	acquired angioedema		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9734886
12123938	KNG1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:7240710	20180130	OMIM			
12123938	KNG1	kininogen 1	gene	DOID:0111676	high molecular weight kininogen deficiency		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY | ClinVar Annotator: match by term: High molecular weight kininogen deficiency | ClinVar Annotator: match by term: KININOGEN DEFICIENCY, TOTAL | ClinVar Annotator: match by term: KNG1-related condition	PMID:17522339|PMID:25741868|PMID:32202057|PMID:36700498
12123938	KNG1	kininogen 1	gene	DOID:10763	hypertension		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
12123938	KNG1	kininogen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12123938	KNG1	kininogen 1	gene	DOID:11123	IgA vasculitis		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:26098644|REF_RGD_ID:11059888
12123938	KNG1	kininogen 1	gene	DOID:1205	allergic disease		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11160071
12123938	KNG1	kininogen 1	gene	DOID:1324	lung cancer		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123938	KNG1	kininogen 1	gene	DOID:14735	hereditary angioedema		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary angioedema with normal C1Inh	PMID:33114181
12123938	KNG1	kininogen 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:3015452|PMID:513486
12123938	KNG1	kininogen 1	gene	DOID:4404	occupational dermatitis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
12123938	KNG1	kininogen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123938	KNG1	kininogen 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2535056
12123938	KNG1	kininogen 1	gene	DOID:9000197	Edema		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9719496
12123938	KNG1	kininogen 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22248470
12123938	KNG1	kininogen 1	gene	DOID:9000641	Pain		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445233|PMID:10543429|PMID:1281941|PMID:16076651|PMID:20018876|PMID:29655911|PMID:3951883
12123938	KNG1	kininogen 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18054572
12123938	KNG1	kininogen 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:polymorphism: :7965C>T (human)	PMID:17065357|REF_RGD_ID:2311541
12123938	KNG1	kininogen 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10401557|PMID:10499367|PMID:10543429|PMID:15626726|PMID:16259764|PMID:16793879|PMID:18234883|PMID:2010815|PMID:2128375|PMID:21521205|PMID:3061568|PMID:7493622|PMID:7582491|PMID:7881729|PMID:9714424|PMID:9720808
12123938	KNG1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:7240710	20210616	OMIM			
12123938	KNG1	kininogen 1	gene	DOID:9002291	Hereditary Angioedema 6		ISO	RGD:1603713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA, HEREDITARY, 6	
12123938	KNG1	kininogen 1	gene	DOID:9002554	Tachycardia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7027322
12123938	KNG1	kininogen 1	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs710446 (human)	PMID:25472531|REF_RGD_ID:11059890
12123938	KNG1	kininogen 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:1371395|PMID:3034372
12123938	KNG1	kininogen 1	gene	DOID:9006024	Hypotension		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10805402|PMID:1334354|PMID:14744816|PMID:16321614|PMID:18084312|PMID:21420289|PMID:2404862|PMID:6675575|PMID:9249246
12123938	KNG1	kininogen 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30685357
12123938	KNG1	kininogen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123938	KNG1	kininogen 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281941
12123938	KNG1	kininogen 1	gene	DOID:9007073	Cough		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22693178
12123938	KNG1	kininogen 1	gene	DOID:9007251	Hyperesthesia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8190269
12123938	KNG1	kininogen 1	gene	DOID:9007278	Anaphylaxis		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7623993
12123938	KNG1	kininogen 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20362651|PMID:30685357
12123938	KNG1	kininogen 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2535056|PMID:7856280
12123938	KNG1	kininogen 1	gene	DOID:9007925	Sudden Cardiac Death	susceptibility	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:19716087|REF_RGD_ID:10411885
12123938	KNG1	kininogen 1	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9622145
12123938	KNG1	kininogen 1	gene	DOID:9009039	Hyperemia		ISO	RGD:1603713	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11837250
12123938	KNG1	kininogen 1	gene	DOID:9719	neovascular inflammatory vitreoretinopathy	severity	ISO	RGD:1603713	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous,serum:	PMID:23808406|REF_RGD_ID:10411880
12123958	GABARAP	GABA type A receptor-associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123958	GABARAP	GABA type A receptor-associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123958	GABARAP	GABA type A receptor-associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1350223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:1324	lung cancer		ISO	RGD:1350223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1350223	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1350223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1551009	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9005587	Starvation		ISO	RGD:1350223	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:621315	D	RGD:9068941	20200609	RGD			PMID:12371906|REF_RGD_ID:629541
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12123966	MAP1LC3B	microtubule associated protein 1 light chain 3 beta	gene	DOID:9008022	Temporomandibular Joint Osteoarthritis		ISO	RGD:621315	D	RGD:9068941	20200709	RGD			PMID:31007149|REF_RGD_ID:34888237
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:0080600	COVID-19		ISO	RGD:1345297	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345297	D	RGD:9068941	20200609	RGD		protein:increased expression:cell soma, dendritic arbor (human)	PMID:10460255|REF_RGD_ID:2313287
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1345297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11248077
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1345297	D	RGD:9068941	20200609	RGD		human gene, mouse model	PMID:11248077|REF_RGD_ID:2313290
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:9008023	Memory Disorders		ISO	RGD:1345297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711127
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:9008449	Tetany		ISO	RGD:620829	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus (rat)	PMID:12542670|REF_RGD_ID:2313247
12123977	AKAP5	A-kinase anchoring protein 5	gene	DOID:9923	developmental coordination disorder		ISO	RGD:1345297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18711127
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:733289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:1909	melanoma		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:69229	D	RGD:9068941	20200609	RGD			PMID:24007266|REF_RGD_ID:9588303
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:2560	morphine dependence		ISO	RGD:735946	D	RGD:9068941	20231228	RGD		mRNA, protein:increased expression:hippocampus, prefrontal cortex	PMID:19341783|REF_RGD_ID:401940119
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:3275	thymoma		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:733289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12123982	RACK1	receptor for activated C kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12123994	TMEM151B	transmembrane protein 151B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1350981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12123994	TMEM151B	transmembrane protein 151B	gene	DOID:5041	esophageal cancer		ISO	RGD:1350981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124005	LOC485601	caspase-14-like	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1605643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22514692
12124005	LOC485601	caspase-14-like	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605643	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22514692
12124005	LOC485601	caspase-14-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:1115	sarcoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:1324	lung cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124016	SGSM1	small G protein signaling modulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:1115	sarcoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:3275	thymoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315457	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9000784	Fibrosis		ISO	RGD:1315457	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:1315457	D	RGD:9068941	20250403	CTD		CTD Direct Evidence: therapeutic	PMID:38573338
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12124051	BACH1	BTB domain and CNC homolog 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124071	CBX1	chromobox 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321782	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:	PMID:18436254|REF_RGD_ID:9586744
12124071	CBX1	chromobox 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124071	CBX1	chromobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124071	CBX1	chromobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124071	CBX1	chromobox 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12124071	CBX1	chromobox 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:37087635
12124071	CBX1	chromobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:10534	stomach cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:1115	sarcoma		ISO	RGD:1314090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:1324	lung cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:1909	melanoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:3275	thymoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:4362	cervical cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314090	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12124081	LOC606856	phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase TPTE2	gene	DOID:9256	colorectal cancer		ISO	RGD:1314090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:7240710	20180130	OMIM			
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:0070019	autosomal recessive dyskeratosis congenita 3		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive 3 | ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal recessive, 3 | ClinVar Annotator: match by term: WRAP53-related condition	PMID:20301779|PMID:21205863|PMID:21602826|PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:30552426|PMID:34573280|PMID:36116037|PMID:39316766
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:10534	stomach cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:1324	lung cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tumor	PMID:25741868|PMID:37149759
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:1612	breast cancer		ISO	RGD:1605665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast Cancer	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:SNP: : rs2287499(human)	PMID:25134915|REF_RGD_ID:21081531
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:1909	melanoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:1984	rectal benign neoplasm	treatment	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:22805008|REF_RGD_ID:21081677
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:26426684|REF_RGD_ID:11522675
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:23192612|REF_RGD_ID:21081534
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868|PMID:26822237|PMID:28125078|PMID:28492532|PMID:36116037
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:3012	Li-Fraumeni syndrome		ISO	RGD:1605665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Li-Fraumeni syndrome | ClinVar Annotator: match by term: Sarcoma family syndrome of Li and Fraumeni	PMID:17576681|PMID:17683073|PMID:18511570|PMID:20522432|PMID:21056402|PMID:23172776|PMID:24033266|PMID:25741868|PMID:25762628|PMID:26681312|PMID:28492532|PMID:9242456|PMID:9536098
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:24626331|REF_RGD_ID:21081532
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:30344734|REF_RGD_ID:21081519
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		RNA:increased expression:lung	PMID:31281482|REF_RGD_ID:21081513
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:28347242|REF_RGD_ID:21081522
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:4362	cervical cancer		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:25070141|PMID:25456005|REF_RGD_ID:21081529|REF_RGD_ID:21081533
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		RNA:increased expression:liver:	PMID:26551349|REF_RGD_ID:11096781
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:7031	glottis squamous cell carcinoma	disease_progression	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:28849066|REF_RGD_ID:21081521
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with esophagus squamous cell carcinoma;	PMID:24626331|REF_RGD_ID:21081532
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with lung non-small cell carcinoma;	PMID:31281482|REF_RGD_ID:21081513
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9004373	Autosomal Recessive Dyskeratosis Congenita		ISO	RGD:1605665	D	RGD:9068941	20260604	RGD		DNA:mutations:exons:	PMID:21205863|REF_RGD_ID:21081678
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:21205863|PMID:25741868|PMID:28492532|PMID:9536098
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:20301779|PMID:21205863|PMID:25741868|PMID:28492532|PMID:32303682|PMID:37149759
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21205863|PMID:25741868|PMID:28492532
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9007633	Body Weight		ISO	RGD:1605665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31243981
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9256	colorectal cancer		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:30175821|REF_RGD_ID:21081520
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:1605665	D	RGD:9068941	20200609	RGD			PMID:26013439|REF_RGD_ID:21081528
12124119	WRAP53	WD repeat containing antisense to TP53	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1605665	D	RGD:9068941	20200609	RGD		associated with Epstein-Barr Virus Infections; protein:increased expression:nasopharynx epithelium	PMID:28607398|REF_RGD_ID:21081524
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:1324	lung cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124133	HMGN1	high mobility group nucleosome binding domain 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1317138	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24747640
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:21255762|PMID:25741868|PMID:28492532|PMID:30303587
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISO	RGD:1348957	D	RGD:7240710	20180130	OMIM			
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:0110500	autosomal recessive nonsyndromic deafness 42		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 42 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 42 | ClinVar Annotator: match by term: ILDR1-related condition	PMID:21255762|PMID:23239027|PMID:24033266|PMID:25668204|PMID:25741868|PMID:26226137|PMID:26440088|PMID:26969326|PMID:27610647|PMID:28492532|PMID:28945813|PMID:29178603|PMID:29849566|PMID:30303587|PMID:30311386|PMID:30804975|PMID:32747562|PMID:33724713
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21255762|PMID:25668204|PMID:25741868|PMID:28492532|PMID:29178603|PMID:29849566|PMID:33724713
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:11830	myopia		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:3488	cellulitis		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cellulitis	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:479	angiokeratoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angiokeratoma	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:630	genetic disease		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:799	varicose veins		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicose disease	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:83	cataract		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348957	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:15641023|PMID:21255762|PMID:24033266|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1348957	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:21255762|PMID:24033266|PMID:25668204|PMID:25741868|PMID:27610647|PMID:28492532|PMID:30303587|PMID:30311386|PMID:33724713
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:24033266|PMID:25741868|PMID:28492532
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9008681	Deafness		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:21255762|PMID:25741868|PMID:28492532|PMID:30303587
12124143	ILDR1	immunoglobulin like domain containing receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124156	DLX4	distal-less homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124156	DLX4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:7240710	20190315	OMIM			
12124156	DLX4	distal-less homeobox 4	gene	DOID:0080408	orofacial cleft 15		ISO	RGD:1318695	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15	PMID:25741868|PMID:28492532
12124156	DLX4	distal-less homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1318695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124156	DLX4	distal-less homeobox 4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1318695	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12124156	DLX4	distal-less homeobox 4	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318695	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050700	cardiomyopathy	ameliorates	ISO	RGD:735347	D	RGD:9068941	20231118	RGD			PMID:30629164|REF_RGD_ID:401900736
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:735346	D	RGD:9068941	20231118	RGD		associated with obesity;	PMID:30629164|REF_RGD_ID:401900736
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:735346	D	RGD:9068941	20220825	RGD		protein:increased expression:tongue (human)	PMID:26581505|REF_RGD_ID:11535375
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:2945	D	RGD:9068941	20210108	RGD			PMID:18443593|REF_RGD_ID:2293336
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:1824	status epilepticus		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7984056
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2945	D	RGD:9068941	20250731	RGD			PMID:9037518|REF_RGD_ID:617301926
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:2921	glomerulonephritis		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18443593
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:4451	renal carcinoma		ISO	RGD:2945	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:9405228|REF_RGD_ID:2293758
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:5082	liver cirrhosis		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17133482
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735346	D	RGD:9068941	20220728	RGD		associated with HBV;protein:increased expression:liver (human)	PMID:15927205|REF_RGD_ID:153297768
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17898221
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30515189
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9008675	Dyskinesias		ISO	RGD:2945	D	RGD:9068941	20250731	RGD			PMID:17055656|REF_RGD_ID:617301266
12124162	JUND	JunD proto-oncogene, AP-1 transcription factor subunit	gene	DOID:9970	obesity		ISO	RGD:735347	D	RGD:9068941	20231118	RGD		mRNA,protein:increased expression:heart	PMID:30629164|REF_RGD_ID:401900736
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124168	NUP62CL	nucleoporin 62 C-terminal like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606555	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322781	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:3275	thymoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124201	PTPN3	protein tyrosine phosphatase non-receptor type 3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1322781	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12124240	LTO1	LTO1 maturation factor of ABCE1	gene	DOID:1115	sarcoma		ISO	RGD:1312190	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124240	LTO1	LTO1 maturation factor of ABCE1	gene	DOID:1324	lung cancer		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124240	LTO1	LTO1 maturation factor of ABCE1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124240	LTO1	LTO1 maturation factor of ABCE1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312190	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124267	PENK	proenkephalin	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12124267	PENK	proenkephalin	gene	DOID:0060564	spinal disease		ISO	RGD:68946	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypothalamus:	PMID:11501038|REF_RGD_ID:10003114
12124267	PENK	proenkephalin	gene	DOID:0070355	overactive bladder syndrome	treatment	ISO	RGD:68998	D	RGD:9068941	20200609	RGD			PMID:23316929|REF_RGD_ID:10003040
12124267	PENK	proenkephalin	gene	DOID:14330	Parkinson's disease		ISO	RGD:68946	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum:	PMID:11501038|REF_RGD_ID:10003114
12124267	PENK	proenkephalin	gene	DOID:1574	alcohol use disorder		ISO	RGD:68946	D	RGD:9068941	20200609	RGD		mRNA:increased expression:frontal lobe:	PMID:22703995|REF_RGD_ID:10003152
12124267	PENK	proenkephalin	gene	DOID:1574	alcohol use disorder		ISO	RGD:68946	D	RGD:9068941	20250501	RGD			PMID:25241055|REF_RGD_ID:598150307
12124267	PENK	proenkephalin	gene	DOID:1574	alcohol use disorder		ISO	RGD:68946	D	RGD:9068941	20250501	RGD		mRNA, protein:increased expression:paraventricular nucleus	PMID:17250616|REF_RGD_ID:598150064
12124267	PENK	proenkephalin	gene	DOID:1826	epilepsy		ISO	RGD:68946	D	RGD:9068941	20231026	RGD		mRNA:increased expression:striatum	PMID:7898641|REF_RGD_ID:401851050
12124267	PENK	proenkephalin	gene	DOID:2559	opiate dependence		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10321497
12124267	PENK	proenkephalin	gene	DOID:543	dystonia		ISO	RGD:68946	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum:	PMID:22595488|REF_RGD_ID:10003100
12124267	PENK	proenkephalin	gene	DOID:863	nervous system disease		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12030189
12124267	PENK	proenkephalin	gene	DOID:8986	narcolepsy		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17521418
12124267	PENK	proenkephalin	gene	DOID:9000641	Pain		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15833551
12124267	PENK	proenkephalin	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:68998	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;	PMID:23235561|REF_RGD_ID:10003116
12124267	PENK	proenkephalin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12124267	PENK	proenkephalin	gene	DOID:9002331	Knee Osteoarthritis	treatment	ISO	RGD:68946	D	RGD:9068941	20200609	RGD			PMID:21928671|REF_RGD_ID:10003115
12124267	PENK	proenkephalin	gene	DOID:9002916	Hyperphagia		ISO	RGD:68946	D	RGD:9068941	20200609	RGD			PMID:20603139|REF_RGD_ID:10003144
12124267	PENK	proenkephalin	gene	DOID:9003805	Catalepsy	treatment	ISO	RGD:68946	D	RGD:9068941	20231026	RGD			PMID:17224239|REF_RGD_ID:401851052
12124267	PENK	proenkephalin	gene	DOID:9006604	Anhedonia		ISO	RGD:68946	D	RGD:9068941	20200609	RGD			PMID:24090157|REF_RGD_ID:10003087
12124267	PENK	proenkephalin	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:68946	D	RGD:9068941	20200609	RGD			PMID:21247719|REF_RGD_ID:10003103
12124267	PENK	proenkephalin	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:68946	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:striatum:	PMID:20456008|REF_RGD_ID:10003039
12124267	PENK	proenkephalin	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:68998	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9767399
12124267	PENK	proenkephalin	gene	DOID:9008394	Drug-Induced Dyskinesia	disease_progression	ISO	RGD:68946	D	RGD:9068941	20231026	RGD		associated with Parkinsonism;mRNA:increased expression:striatum	PMID:26113400|REF_RGD_ID:401851054
12124267	PENK	proenkephalin	gene	DOID:9008394	Drug-Induced Dyskinesia	treatment	ISO	RGD:68946	D	RGD:9068941	20231109	RGD		associated with Parkinsonism	PMID:10869049|REF_RGD_ID:401900134
12124267	PENK	proenkephalin	gene	DOID:9008820	Visceral Pain	treatment	ISO	RGD:68998	D	RGD:9068941	20200609	RGD			PMID:23316929|REF_RGD_ID:10003040
12124267	PENK	proenkephalin	gene	DOID:9976	heroin dependence		ISO	RGD:68946	D	RGD:9068941	20200609	RGD			PMID:22683090|REF_RGD_ID:10003025
12124278	LOC100856515	alcohol dehydrogenase 1-like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314863	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12124296	YIPF7	Yip1 domain family member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124296	YIPF7	Yip1 domain family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124296	YIPF7	Yip1 domain family member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124339	LOC102155967	high affinity immunoglobulin epsilon receptor subunit beta-like	gene	DOID:1115	sarcoma		ISO	RGD:1316189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124389	DRC3	dynein regulatory complex subunit 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1348539	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:30905399
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:1115	sarcoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1348539	D	RGD:9068941	20220929	RGD		DNA:SNPs, haplotype:intron: (rs17083838, rs7992670) (human)	PMID:34815954|REF_RGD_ID:155260314
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:1324	lung cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1348539	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:1909	melanoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:3275	thymoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1348539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:7240710	20200226	OMIM			
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9001861	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES		ISO	RGD:1348539	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CDK8-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia and behavioral abnormalities	PMID:25741868|PMID:28492532|PMID:30905399|PMID:33958710|PMID:38193604
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9005745	Stillbirth		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stillbirth	PMID:25741868
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124407	CDK8	cyclin dependent kinase 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1348539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12124439	PDXP	pyridoxal phosphatase	gene	DOID:4362	cervical cancer		ISO	RGD:1351799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060058	lymphoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060074	ductal carcinoma in situ	treatment	ISO	RGD:2218	D	RGD:9068941	20210611	RGD			PMID:25861310|REF_RGD_ID:127284854
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer | ClinVar Annotator: match by term: triple negative breast cancer	PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060979	Fanconi anemia complementation group S		ISO	RGD:69132	D	RGD:7240710	20260729	OMIM			
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060979	Fanconi anemia complementation group S		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S	PMID:10644434|PMID:10882858|PMID:11102986|PMID:11139249|PMID:11157798|PMID:11162473|PMID:11359908|PMID:11431698|PMID:11504767|PMID:11698567|PMID:11802209|PMID:11877378|PMID:12048272|PMID:12393792|PMID:12427538|PMID:12496477|PMID:12599199|PMID:12601471|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12774040|PMID:12890739|PMID:12938098|PMID:12960223|PMID:14534301|PMID:14760071|PMID:14973102|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15340362|PMID:15353005|PMID:15365993|PMID:15385441|PMID:15447980|PMID:15829246|PMID:15983021|PMID:16030099|PMID:16199547|PMID:16267036|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16835750|PMID:16943438|PMID:16949048|PMID:17011978|PMID:17100994|PMID:17161371|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17576681|PMID:17591843|PMID:17661172|PMID:17924331|PMID:17925560|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18431501|PMID:18512148|PMID:18627636|PMID:18936166|PMID:18992264|PMID:19016756|PMID:19241424|PMID:19369211|PMID:19471317|PMID:19491284|PMID:19499246|PMID:19563646|PMID:19941162|PMID:20104584|PMID:20215541|PMID:20301425|PMID:20378548|PMID:20516115|PMID:20567915|PMID:20858050|PMID:20960228|PMID:21080930|PMID:21120943|PMID:21147080|PMID:21156238|PMID:21203900|PMID:21218378|PMID:21309043|PMID:21324516|PMID:21348412|PMID:21447777|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21735045|PMID:21913181|PMID:21918853|PMID:21965345|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22116506|PMID:22160602|PMID:22217648|PMID:22366370|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22615956|PMID:22682623|PMID:22711857|PMID:22713736|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22798144|PMID:22927308|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23233716|PMID:23239986|PMID:23479189|PMID:23569533|PMID:23613828|PMID:23683081|PMID:23704879|PMID:23867111|PMID:24010542|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24137399|PMID:24249303|PMID:24285858|PMID:24321281|PMID:24393486|PMID:24448499|PMID:24569164|PMID:24667779|PMID:24728327|PMID:24845084|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25136594|PMID:25141179|PMID:25186627|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25823446|PMID:25863477|PMID:25925381|PMID:25948282|PMID:25971625|PMID:26187060|PMID:26206375|PMID:26207792|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26911350|PMID:26976419|PMID:27060149|PMID:27062684|PMID:27082205|PMID:27197267|PMID:27257965|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27383479|PMID:27469594|PMID:27533253|PMID:27616075|PMID:27802165|PMID:27836010|PMID:27843123|PMID:27907908|PMID:27997688|PMID:27997699|PMID:28111427|PMID:28122244|PMID:28127413|PMID:28135145|PMID:28176296|PMID:28205045|PMID:28222693|PMID:28288110|PMID:28301456|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28422718|PMID:28477318|PMID:28492532|PMID:28528518|PMID:28569743|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29116469|PMID:29156836|PMID:29168416|PMID:29176636|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29805665|PMID:29884841|PMID:29905759|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30203341|PMID:30209399|PMID:30212499|PMID:30219179|PMID:30257991|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30548481|PMID:30555256|PMID:30651582
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0060979	Fanconi anemia complementation group S		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP S | ClinVar Annotator: match by term: Fanconi anemia, complementation group S	PMID:30652428|PMID:30675319|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30982232|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31360874|PMID:31409081|PMID:31477031|PMID:31642931|PMID:31690835|PMID:31771539|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31907386|PMID:31911673|PMID:31917386|PMID:31954625|PMID:31992191|PMID:32123317|PMID:32203205|PMID:32211327|PMID:32398771|PMID:32420470|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32623769|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32980694|PMID:33047316|PMID:33067490|PMID:33083013|PMID:33087888|PMID:33273034|PMID:33413596|PMID:33471991|PMID:33630411|PMID:33646313|PMID:33691754|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34287479|PMID:34326862|PMID:34449592|PMID:34597585|PMID:34663891|PMID:34793697|PMID:34981296|PMID:35116780|PMID:35264596|PMID:35456503|PMID:35534704|PMID:35918668|PMID:36169650|PMID:36171434|PMID:36243179|PMID:36329109|PMID:36331686|PMID:36605468|PMID:36881271|PMID:36964191|PMID:36988593|PMID:37335020|PMID:37563628|PMID:37937776|PMID:37958491|PMID:37970354|PMID:38160042|PMID:38271184|PMID:38645101|PMID:38709234|PMID:38922859|PMID:39142283|PMID:7611277|PMID:7837387|PMID:7894491|PMID:8723683|PMID:8972225|PMID:9150149|PMID:9159158|PMID:9333265|PMID:9536098|PMID:9649133|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:11497291|REF_RGD_ID:126925969
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0081278	infant-type hemispheric glioma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infant-type hemispheric glioma	PMID:19543972|PMID:21990134|PMID:21990165|PMID:24489791|PMID:25452441|PMID:25741868|PMID:25823446|PMID:26467025|PMID:27225819|PMID:27741520|PMID:28492532|PMID:28888541|PMID:29339979|PMID:29446198|PMID:29506128|PMID:29854283|PMID:29907814|PMID:30209399|PMID:30219179|PMID:30339520|PMID:30696104|PMID:31853058|PMID:32380732|PMID:32438681|PMID:34572941|PMID:34981296|PMID:38386807|PMID:9609997
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive	PMID:15146557|PMID:15591272|PMID:20104584|PMID:20345474|PMID:20507347|PMID:20569256|PMID:22009639|PMID:22032251|PMID:23149842|PMID:23199084|PMID:23274591|PMID:24033266|PMID:24504028|PMID:24770866|PMID:24797986|PMID:25741868|PMID:26295337|PMID:26467025|PMID:26681312|PMID:26689913|PMID:28492532|PMID:28831036|PMID:29339979|PMID:29446198|PMID:29492181|PMID:29625052|PMID:29684080|PMID:29758562|PMID:29785153|PMID:30040829|PMID:30322717|PMID:30720243|PMID:31159747|PMID:32295079|PMID:33471991|PMID:8644703
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fanconi anemia, complementation group A	PMID:24569164|PMID:25472942
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:0111685	hereditary mixed polyposis syndrome 1		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Polyposis syndrome, hereditary mixed, 1	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10283	prostate cancer		ISO	RGD:69132	D	RGD:9068941	20260709	RGD		mRNA, protein:splice variant	PMID:17384678|REF_RGD_ID:126925963
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10283	prostate cancer	no_association	ISO	RGD:69132	D	RGD:9068941	20200609	RGD			PMID:10398279|REF_RGD_ID:734657
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10283	prostate cancer	severity	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:deletions: :185_186del,1294_1333del,3875_3878del	PMID:18182994|REF_RGD_ID:2289042
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613|PMID:33442023|PMID:33461583|PMID:33471991|PMID:33726785|PMID:33850850|PMID:34645131|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35377489|PMID:35420638|PMID:35918668|PMID:36329109|PMID:36367610|PMID:36988593|PMID:734551|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10227398|PMID:10326698|PMID:10389907|PMID:10486320|PMID:10505028|PMID:10595255|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11260866|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11695708|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402341|PMID:12427738|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19892845|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21447777|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22737296|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23231788|PMID:23239986|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24569164|PMID:24719479|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25326637|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26350514|PMID:26430151|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26777316|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30040829|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30430080|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720863|PMID:30726305|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30962250|PMID:30968603|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31467430|PMID:31528241|PMID:31780705|PMID:31825140|PMID:31924417|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32438681|PMID:32455662|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32832836|PMID:32906206|PMID:32980694|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:33442023|PMID:33461583|PMID:33471991|PMID:33573335|PMID:33726785|PMID:33850850|PMID:34072659|PMID:34645131|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35377489|PMID:35420638|PMID:35918668|PMID:35980532|PMID:36329109|PMID:36367610|PMID:36988593|PMID:38386807|PMID:38409497|PMID:38922859|PMID:734551|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:10227398|PMID:10326698|PMID:10389907|PMID:10486320|PMID:10505028|PMID:10595255|PMID:10634513|PMID:10644434|PMID:10804288|PMID:10923033|PMID:11149425|PMID:11157798|PMID:11260866|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11506493|PMID:11595708|PMID:11597388|PMID:11695708|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402341|PMID:12427738|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12655560|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:15865297|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16267036|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19370767|PMID:19563646|PMID:19892845|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21324516|PMID:21447777|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22737296|PMID:22752604|PMID:22776961|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23231788|PMID:23239986|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24569164|PMID:24719479|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26350514|PMID:26430151|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26777316|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30040829|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30430080|PMID:30458859|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720863|PMID:30726305|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30962250|PMID:30968603|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31467430|PMID:31528241|PMID:31780705|PMID:31825140|PMID:31924417|PMID:32072338|PMID:32123317|PMID:32295079|PMID:32341426|PMID:32438681|PMID:32455662|PMID:32486089|PMID:32546644|PMID:32710294|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32832836|PMID:32906206|PMID:32980694|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33428613|PMID:33442023
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:33461583|PMID:33471991|PMID:33573335|PMID:33726785|PMID:33850850|PMID:34072659|PMID:34645131|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35377489|PMID:35420638|PMID:35918668|PMID:35980532|PMID:36329109|PMID:36367610|PMID:36988593|PMID:38386807|PMID:38409497|PMID:38922859|PMID:734551|PMID:7627958|PMID:7894493|PMID:8554067|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9197534|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10326698|PMID:10389907|PMID:10486320|PMID:10505028|PMID:10634513|PMID:10644434|PMID:10804288|PMID:11157798|PMID:11260866|PMID:11410501|PMID:11462239|PMID:11504767|PMID:11595708|PMID:11597388|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12427738|PMID:12491487|PMID:12601471|PMID:12624724|PMID:12732733|PMID:12815604|PMID:12827452|PMID:12955716|PMID:14531499|PMID:14534301|PMID:15133502|PMID:15133503|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15365993|PMID:15375703|PMID:16111488|PMID:16140926|PMID:16199547|PMID:16287141|PMID:16489001|PMID:16528604|PMID:16528612|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17221156|PMID:17305420|PMID:17308087|PMID:17591843|PMID:17851763|PMID:17922413|PMID:18036263|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18712473|PMID:19016756|PMID:19200354|PMID:19287957|PMID:19563646|PMID:19892845|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20727672|PMID:20960228|PMID:21042765|PMID:21213370|PMID:21447777|PMID:21473589|PMID:21520333|PMID:21523855|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:22034289|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22505045|PMID:22711857|PMID:22737296|PMID:22798144|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23231788|PMID:23239986|PMID:23364291|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23842040|PMID:23867111|PMID:23961350|PMID:24033266|PMID:24249303|PMID:24312913|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24569164|PMID:24728189|PMID:24884479|PMID:24916970|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26153499|PMID:26183948|PMID:26187060|PMID:26246475|PMID:26295337|PMID:26306726|PMID:26350514|PMID:26430151|PMID:26439132|PMID:26467025|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26777316|PMID:26848529|PMID:27008870|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27433846|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27767231|PMID:28111427|PMID:28152038|PMID:28176296|PMID:28205045|PMID:28283652|PMID:28294317|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28724667|PMID:28781887|PMID:28802053|PMID:28831036|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29280214|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29435039|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29625052|PMID:29673794|PMID:29752822|PMID:29907814|PMID:29922827|PMID:30040829|PMID:30078507|PMID:30103829|PMID:30128899|PMID:30159786|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30309222|PMID:30333958|PMID:30374176|PMID:30458859|PMID:30606148|PMID:30613976|PMID:30702160|PMID:30720863|PMID:30726305|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30875412|PMID:30962250|PMID:30972954|PMID:31112363|PMID:31131967|PMID:31209999|PMID:31263571|PMID:31343793|PMID:31347298|PMID:31372034|PMID:31467430|PMID:31528241|PMID:31780705|PMID:31853058|PMID:31924417|PMID:32072338|PMID:32123317|PMID:32341426|PMID:32438681|PMID:32455662|PMID:32486089|PMID:32546644|PMID:32719484|PMID:32761968|PMID:32772980|PMID:32906206|PMID:32980694|PMID:33037428|PMID:33067557|PMID:33087888|PMID:33309985|PMID:33428613|PMID:33461583|PMID:33471991|PMID:33573335|PMID:33726785|PMID:33850850|PMID:34072659|PMID:34645131|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35377489|PMID:35918668|PMID:35980532|PMID:36329109|PMID:36367610|PMID:36988593|PMID:37563628|PMID:38146508|PMID:38386807|PMID:38409497|PMID:38922859|PMID:39488595|PMID:7627958|PMID:8554067|PMID:8875986|PMID:9042907|PMID:9150149|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:20104584|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29446198|PMID:32546644|PMID:35101336|PMID:35420638|PMID:36988593
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer	susceptibility	ISO	RGD:69132	D	RGD:9068941	20210521	RGD		DNA:SNP: :rs799917 (human)	PMID:25266802|REF_RGD_ID:126925956
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:23633032|REF_RGD_ID:126925962
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10763	hypertension	treatment	ISO	RGD:69132	D	RGD:9068941	20210611	RGD			PMID:24239235|REF_RGD_ID:8693672
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:10969	hemiplegia		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:11802209|PMID:16683254|PMID:18627636|PMID:19563646|PMID:21147080|PMID:21348412|PMID:21523855|PMID:21735045|PMID:23164213|PMID:23479189|PMID:24033266|PMID:24285858|PMID:24667779|PMID:25741868|PMID:25863477|PMID:25971625|PMID:26467025|PMID:27836010|PMID:28324225|PMID:28492532|PMID:28528518|PMID:28993434|PMID:29360161|PMID:29446198|PMID:30702160|PMID:31131967|PMID:37563628|PMID:38922859|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:11504767|PMID:11710835|PMID:20104584|PMID:25741868|PMID:26467025|PMID:28176296|PMID:28492532|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29975922|PMID:30702160|PMID:30720863|PMID:31209999|PMID:31300551|PMID:31477031|PMID:32850417|PMID:34403063|PMID:36605468|PMID:39272924|PMID:9150154
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1115	sarcoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:11830	myopia		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532|PMID:31911673
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:12215	oligohydramnios		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:11102986|PMID:12393792|PMID:14760071|PMID:16267036|PMID:16528604|PMID:23110154|PMID:23239986|PMID:24033266|PMID:24667779|PMID:25741868|PMID:25863477|PMID:28492532|PMID:28888541|PMID:29446198|PMID:30787465|PMID:33273034|PMID:33471991
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1324	lung cancer		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:10486320|PMID:10505028|PMID:11260866|PMID:11739404|PMID:11802209|PMID:11920621|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12601471|PMID:16528604|PMID:16644204|PMID:16683254|PMID:16998791|PMID:17591843|PMID:18446624|PMID:18465347|PMID:19949876|PMID:20104584|PMID:20727672|PMID:21922593|PMID:23704984|PMID:24249303|PMID:24504028|PMID:24549055|PMID:25085752|PMID:25682074|PMID:25741868|PMID:26028024|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26541979|PMID:27153395|PMID:27257965|PMID:27553291|PMID:28324225|PMID:28423363|PMID:28492532|PMID:28724667|PMID:29021639|PMID:29280214|PMID:29339979|PMID:29446198|PMID:29470806|PMID:30078507|PMID:30209399|PMID:31209999|PMID:36988593|PMID:8554067|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12698193|PMID:15689452|PMID:17308087|PMID:20104584|PMID:25741868|PMID:26467025|PMID:27454287|PMID:28492532|PMID:29348823|PMID:29470806|PMID:30209399|PMID:31159747|PMID:31853058|PMID:32322110|PMID:33471991|PMID:34793697|PMID:35101336|PMID:38645101|PMID:39142283
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1520	colon carcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1596	depressive disorder		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532|PMID:31911673
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33875706|PMID:34063308|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31409081|PMID:31422574|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32812259|PMID:32854451|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:34063308|PMID:34749799|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26564481|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28265380|PMID:28283652|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30181556|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30675319|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31954625|PMID:31957001|PMID:32068069|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32658311|PMID:32812259|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33720054|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34296289|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27535533|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34981296|PMID:35681111|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35659930|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast cancer, lobular | ClinVar Annotator: match by term: Breast cancer, post-chemotherapy poor survival in | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32803532|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:33010199|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33875706|PMID:33888336|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35127508|PMID:35196514|PMID:35659930|PMID:35681111|PMID:35918668|PMID:36011273|PMID:36329109|PMID:36988593|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34597585|PMID:34657373|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36329109|PMID:36451132|PMID:36612302|PMID:36964191|PMID:36988593|PMID:37280479|PMID:7493024|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10612827|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11260866|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14729053|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18528753
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:202008|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34326862|PMID:34597585|PMID:34657373|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36329109|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36964191|PMID:36988593|PMID:37085799|PMID:37280479|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11260866|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14729053|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17661172|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:202008|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29487695|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34326862|PMID:34597585|PMID:34657373|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36964191|PMID:36988593|PMID:37085799|PMID:37280479|PMID:37415649|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29487695|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34296289|PMID:34326862|PMID:34597585|PMID:34657373|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36833189|PMID:36964191|PMID:36988593|PMID:37085799|PMID:37280479|PMID:37415649|PMID:38922859|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:202008|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26236408|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29487695|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30551077|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32375709|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33646313|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34290354|PMID:34296289|PMID:34326862|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:35957908|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36833189|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37280479|PMID:37415649|PMID:37731132|PMID:37851290|PMID:38645101|PMID:38922859|PMID:39142283|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31771539|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32375709|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868316|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34290354|PMID:34296289|PMID:34326862|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34658299|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35382848|PMID:35409996|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:35957908|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36833189|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37731132|PMID:37731153|PMID:37851290|PMID:37958491|PMID:38271184|PMID:38398132|PMID:38439815|PMID:38512353|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38922859|PMID:39142283|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10090482|PMID:10090881|PMID:10196379|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10422801|PMID:10447273|PMID:10453741|PMID:10464609|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10595255|PMID:10644434|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10984458|PMID:11030417|PMID:11102978|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11260866|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11437933|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12442273|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12827452|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12937835|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14517958|PMID:14534301|PMID:14555511|PMID:14574155|PMID:14576434|PMID:14647443|PMID:14684619|PMID:14729053|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15515971|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15744030|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17233897|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17661172|PMID:17688236|PMID:17719744|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18228134|PMID:18273839|PMID:18284688|PMID:18312450|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18712473|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19329713|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19563646|PMID:19616529|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20033483|PMID:20043088|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20151938|PMID:20167696|PMID:20180971|PMID:202008|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324516|PMID:213324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21993501|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23393598|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23772696|PMID:23867111|PMID:23893897|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24372583|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24607278|PMID:24618965|PMID:24660075|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25085752|PMID:25136594|PMID:25141179|PMID:25159151|PMID:25186627|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25637381|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25849179|PMID:25863477|PMID:25884701|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26057125|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26219265|PMID:26219728|PMID:26236408|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26381082|PMID:26402875|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26745875|PMID:26764160|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27328445|PMID:27376475|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28051074|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301460|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29453630|PMID:29470806|PMID:29478780|PMID:29487695|PMID:29492181|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29687286|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884841|PMID:29907814|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30212499|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30551077|PMID:30584090|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30968603|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31294896|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31422574|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31771539|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31869745|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:32019277|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32375709|PMID:32426482|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32856862|PMID:32868316|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32906206|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33078592|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33432171|PMID:33449224|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33606355|PMID:33629534|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34290354|PMID:34296289|PMID:34326862|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34658299|PMID:34680387|PMID:34687117|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35377489|PMID:35382848|PMID:35409996|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:35957908|PMID:36003761|PMID:36011273|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36451132|PMID:36531003|PMID:36537080|PMID:36612302|PMID:36660366|PMID:36833189|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37731132|PMID:37731153|PMID:37851290|PMID:37958491|PMID:38271184|PMID:38398132|PMID:38439815|PMID:38512353|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38922859|PMID:39142283|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8933332|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150174|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585608|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9715372|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10196379|PMID:10406662|PMID:10447273|PMID:10635334|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10788334|PMID:10811118|PMID:10866029|PMID:10882858|PMID:10918303|PMID:10946236|PMID:11102977|PMID:11102978|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11389159|PMID:11462242|PMID:11493753|PMID:11573086|PMID:11606101|PMID:11739404|PMID:11773283|PMID:11802209|PMID:11897832|PMID:11938448|PMID:11972384|PMID:12014998|PMID:12142080|PMID:12181777|PMID:12400015|PMID:12402332|PMID:12442273|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12810666|PMID:12827452|PMID:12872263|PMID:12938098|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576433|PMID:14746861|PMID:14757871|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15133502|PMID:15133503|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15617999|PMID:15689452|PMID:15726418|PMID:15800311|PMID:15865297|PMID:15876480|PMID:15951957|PMID:15983021|PMID:16014699|PMID:16030099|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16287141|PMID:16403807|PMID:16455195|PMID:16518693|PMID:16528612|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16758124|PMID:16835750|PMID:16847550|PMID:16949048|PMID:16998791|PMID:17018160|PMID:17020472|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17453335|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17661172|PMID:17719744|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18092194|PMID:18159056|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18375895|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18703817|PMID:18779604|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19241424|PMID:19329713|PMID:19370767|PMID:19452558|PMID:19491284|PMID:19499246|PMID:19543972|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19818148|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20215541|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20507347|PMID:20516115|PMID:20522429|PMID:20569256|PMID:20683152|PMID:20859677|PMID:21120943|PMID:21203900|PMID:21232165|PMID:21281505|PMID:21324516|PMID:2134516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21673748|PMID:21702907|PMID:21712546|PMID:21735045|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22127648|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22843421|PMID:22875147|PMID:22970155|PMID:23034506|PMID:23161852|PMID:23175448|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23233716|PMID:23239986|PMID:23289006|PMID:23348723|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23749302|PMID:23772696|PMID:23867111|PMID:24033266|PMID:24055113|PMID:24240112|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24556621|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24845084|PMID:24853695|PMID:24884479|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25159151|PMID:25186627|PMID:25256924|PMID:25330149|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:25782689|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25971625|PMID:26026974|PMID:26092435|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26381082|PMID:26402875|PMID:26467025|PMID:26543556|PMID:26564481|PMID:26622941|PMID:26681312|PMID:26689913|PMID:26745875|PMID:26780556|PMID:26786923|PMID:26843898|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26911350|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27376475|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27978560|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28285342|PMID:28288110|PMID:28324225|PMID:28364669|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28452373|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28993434|PMID:29036293|PMID:29086229|PMID:29088781|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29240602|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29348823|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29868112|PMID:29884841|PMID:29907814|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30105462|PMID:30209399|PMID:30257991|PMID:30264118|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30415210|PMID:30430080|PMID:30458859|PMID:30541756|PMID:30551077|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31209238|PMID:31209999|PMID:31294896|PMID:31341521|PMID:31347298|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31468469|PMID:31481248|PMID:31528241|PMID:31570899|PMID:31642931|PMID:31705708|PMID:31706072|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31911673|PMID:32068069|PMID:32123317|PMID:32125938|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32854451|PMID:32868804|PMID:32885271|PMID:32959997|PMID:33010199|PMID:33067490|PMID:33087888|PMID:33206196|PMID:33233347|PMID:33258288|PMID:33461583|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33646313|PMID:33670479|PMID:33674644|PMID:33724863|PMID:33758026|PMID:33881725|PMID:33888336|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34254208|PMID:34296289|PMID:34326862|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34687117|PMID:34721658|PMID:34917121|PMID:34981296|PMID:35023674|PMID:35127508|PMID:35196514|PMID:35220195|PMID:35264596|PMID:35377489|PMID:35382848|PMID:35409996|PMID:35464868|PMID:35534113|PMID:35534704|PMID:35665744|PMID:35731312|PMID:35753294|PMID:35908255|PMID:35918668|PMID:36011273|PMID:36169650|PMID:36243179|PMID:36329109|PMID:36367610|PMID:36385461|PMID:36537080|PMID:36660366|PMID:36881271|PMID:37097611|PMID:37280479|PMID:37523182|PMID:37731132|PMID:37731153|PMID:38333895|PMID:38785549|PMID:38922859|PMID:39048855|PMID:39096911|PMID:39142283|PMID:7493024|PMID:7627958|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8571953|PMID:8644702|PMID:8808710|PMID:8875986|PMID:9042907|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9159158|PMID:9326340|PMID:9333265|PMID:9362443|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9609997|PMID:9649133|PMID:9667663|PMID:9760198|PMID:9792861
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:10200350|PMID:10326698|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10486320|PMID:10505028|PMID:10634513|PMID:10644434|PMID:10699917|PMID:10728699|PMID:10788334|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10952777|PMID:10980541|PMID:11102977|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11359908|PMID:11376024|PMID:11400546|PMID:11410501|PMID:11431698|PMID:11462239|PMID:11462242|PMID:11504767|PMID:11506493|PMID:11556835|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11938448|PMID:12014998|PMID:12068003|PMID:12070551|PMID:12142080|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12457999|PMID:12491499|PMID:12531920|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12827452|PMID:12890739|PMID:12938098|PMID:12955716|PMID:14531499|PMID:14534301|PMID:14576433|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15026808|PMID:15133502|PMID:15133503|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15385441|PMID:15569676|PMID:15689452|PMID:15781624|PMID:15829246|PMID:15983021|PMID:16014699|PMID:16030099|PMID:16084575|PMID:16140926|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16287141|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16835750|PMID:16847550|PMID:16905680|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17018160|PMID:17100994|PMID:17221156|PMID:17257844|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17661172|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18036263|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18446624|PMID:18465347|PMID:18528753|PMID:18559594|PMID:18627636|PMID:18680205|PMID:18712473|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18844490|PMID:18936166|PMID:18951446|PMID:18980973|PMID:19016756|PMID:19200354|PMID:19241424|PMID:19287957|PMID:19329713|PMID:19353265|PMID:19370767|PMID:19377795|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19656164|PMID:19770520|PMID:19818148|PMID:19826428|PMID:19949876|PMID:19996028|PMID:20033483|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20378548|PMID:20406939|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20579331|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:21042765|PMID:21120943|PMID:21156238|PMID:21204799|PMID:21232165|PMID:21324516|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21559243|PMID:21603858|PMID:21673748|PMID:21702907|PMID:21883705|PMID:21895635|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22034289|PMID:22116506|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22277901|PMID:22366370|PMID:22382806|PMID:22425665|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23289006|PMID:23364291|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23569316|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23772696|PMID:23867111
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24312913|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24853695|PMID:24884479|PMID:24916970|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25066507|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25256924|PMID:25348012|PMID:25371446|PMID:25400221|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25896959|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26028024|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26219728|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26334176|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26430151|PMID:26439132|PMID:26467025|PMID:26515461|PMID:26530882|PMID:26541979|PMID:26564481|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26745875|PMID:26777316|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26843898|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26911350|PMID:26913838|PMID:27062684|PMID:27067391|PMID:27082205|PMID:27083178|PMID:27153395|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27376475|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27446417|PMID:27469594|PMID:27495310|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27844240|PMID:27886673|PMID:27978560|PMID:27997688|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28135145|PMID:28176296|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28751443|PMID:28781887|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29088781|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29176636|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29687286|PMID:29752822|PMID:29758562|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29937436|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30130155|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30430080|PMID:30458859|PMID:30472649|PMID:30541756|PMID:30613976|PMID:30675319|PMID:30702160|PMID:30713775|PMID:30720243|PMID:30720863|PMID:30726305|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30962250|PMID:30972954|PMID:30982232|PMID:31090900|PMID:31112341|PMID:31124283|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31467430|PMID:31477031|PMID:31492746|PMID:31528241|PMID:31570899|PMID:31642931|PMID:31825140|PMID:31851867|PMID:31853058|PMID:31911673|PMID:32019277|PMID:32072338|PMID:32123317|PMID:32125938|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32375709|PMID:32380732|PMID:32398771|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32546644
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Cancer | ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:32548945|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32817299|PMID:32854451|PMID:32856862|PMID:32868804|PMID:32885271|PMID:32895300|PMID:32959997|PMID:32980694|PMID:33037428|PMID:33067490|PMID:33087888|PMID:33233347|PMID:33258288|PMID:33309985|PMID:33413596|PMID:33461583|PMID:33471991|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33573335|PMID:33670479|PMID:33674644|PMID:33801055|PMID:33850850|PMID:33881725|PMID:33888336|PMID:34011307|PMID:34045478|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34290354|PMID:34296289|PMID:34326862|PMID:34529195|PMID:34657357|PMID:34657373|PMID:34721658|PMID:34793697|PMID:34906479|PMID:34981296|PMID:35039564|PMID:35116780|PMID:35196514|PMID:35205313|PMID:35220195|PMID:35377489|PMID:35382848|PMID:35409996|PMID:35464868|PMID:35534704|PMID:35625946|PMID:35753294|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36169650|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36604691|PMID:36881271|PMID:36964191|PMID:36988593|PMID:37415649|PMID:37523182|PMID:37563628|PMID:37731132|PMID:37731153|PMID:37958491|PMID:38146508|PMID:38201524|PMID:38386807|PMID:38409497|PMID:38439815|PMID:38645101|PMID:38652475|PMID:38922859|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39488595|PMID:39582020|PMID:39733403|PMID:40413188|PMID:7627958|PMID:7795652|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8644702|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8875986|PMID:8968102|PMID:8972225|PMID:9042907|PMID:9145677|PMID:9150148|PMID:9150151|PMID:9197534|PMID:9333265|PMID:9361038|PMID:9525870|PMID:9536098|PMID:9649133|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:7907678|REF_RGD_ID:1599497
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		mRNA:allelic imbalance:lymphocyte	PMID:18204050|REF_RGD_ID:2293153
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:7240710	20260729	OMIM			
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4	PMID:10389907|PMID:10788334|PMID:10811118|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11504767|PMID:11739404|PMID:12204006|PMID:12393792|PMID:12400015|PMID:12566964|PMID:12732733|PMID:12810666|PMID:12938098|PMID:15024741|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16949048|PMID:17100994|PMID:18273839|PMID:18680205|PMID:18763032|PMID:18783588|PMID:19208665|PMID:19370767|PMID:19594371|PMID:19770520|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20345474|PMID:20373018|PMID:20507347|PMID:20569256|PMID:20683152|PMID:21232165|PMID:21324516|PMID:21922593|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22172724|PMID:22486713|PMID:22713736|PMID:22776961|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23199084|PMID:23469205|PMID:23683081|PMID:23867111|PMID:24033266|PMID:24131973|PMID:24312913|PMID:24504028|PMID:24884479|PMID:25330149|PMID:25400221|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25948282|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26681312|PMID:26852130|PMID:26911350|PMID:27153395|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27498913|PMID:27741520|PMID:27907908|PMID:27978560|PMID:28111427|PMID:28263838|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28492532|PMID:29161300|PMID:29215753|PMID:29335924|PMID:29339979|PMID:29433453|PMID:29446198|PMID:29492181|PMID:29667044|PMID:29797126|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30606148|PMID:31368036|PMID:31825140|PMID:32295079|PMID:32426482|PMID:32467295|PMID:32658311|PMID:33309985|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8968102|PMID:9510469|PMID:9525870|PMID:9663595
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33875706|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10090881|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11015464|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14576434|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17307836|PMID:17308087|PMID:17591843|PMID:18036263|PMID:18159056|PMID:18273839|PMID:18413725|PMID:18418466|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:21119707|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21702907|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23192404|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24504028|PMID:24516540|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24884479|PMID:25085752|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29478780|PMID:29492181|PMID:29625052|PMID:29667044|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30765603|PMID:30962250|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33606809|PMID:33875706|PMID:34413315|PMID:34597585|PMID:36329109|PMID:36988593|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9452076|PMID:9510469|PMID:9525870|PMID:9634504|PMID:9663595|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29667044|PMID:29758562|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30765603|PMID:30962250|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32782288|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33606809|PMID:33674644|PMID:33758026|PMID:33875706|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34981296|PMID:35039564|PMID:35409996|PMID:35464868|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36988593|PMID:7545954|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9452076|PMID:9510469|PMID:9525870|PMID:9544766|PMID:9634504|PMID:9663595|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10090881|PMID:10196379|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10505028|PMID:10615237|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:10923033|PMID:11015464|PMID:11102977|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11597388|PMID:11739404|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12566964|PMID:12601471|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15350310|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15569676|PMID:15726418|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16014699|PMID:16030426|PMID:16103107|PMID:16162645|PMID:16168118|PMID:16211554|PMID:16227521|PMID:16267036|PMID:16397213|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16905680|PMID:16949048|PMID:16998791|PMID:17100994|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17341484|PMID:17585057|PMID:17591843|PMID:17922257|PMID:17924331|PMID:18036263|PMID:18159056|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18418466|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:19200354|PMID:19208665|PMID:19287957|PMID:19339519|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19661094|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:21119707|PMID:21147080|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22136207|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22425665|PMID:22430266|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23239986|PMID:23249957|PMID:23278966|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23683081|PMID:23695190|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:24033266|PMID:24131973|PMID:24212087|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24825132|PMID:24884479|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25330149|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26206375|PMID:26219728|PMID:26246475|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:26727311|PMID:26777316|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27153395|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28263838|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29161300|PMID:29215753|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29667044|PMID:29758562|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30765603|PMID:30787465|PMID:30962250|PMID:30975216|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31263571|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32658311|PMID:32719484|PMID:32741062|PMID:32782288|PMID:32817299|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33309985|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33606809|PMID:33674644|PMID:33758026|PMID:33875706|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34981296|PMID:35039564|PMID:35409996|PMID:35464868|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36988593|PMID:7545954|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9452076|PMID:9510469|PMID:9525870|PMID:9544766|PMID:9634504|PMID:9663595|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10090881|PMID:10196379|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10615237|PMID:10644434|PMID:10699917|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11015464|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11251181|PMID:11260866|PMID:11320250|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12014998|PMID:12097257|PMID:12125210|PMID:12181777|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12491487|PMID:12566964|PMID:12601471|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12827452|PMID:12955716|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14729053|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15350310|PMID:15383404|PMID:15385441|PMID:15726418|PMID:15876480|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16234499|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16905680|PMID:16949048|PMID:16998791|PMID:17018160|PMID:17100994|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17341484|PMID:17585057|PMID:17591843|PMID:17688236|PMID:17922257|PMID:17924331|PMID:17925560|PMID:18036263|PMID:18159056|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18418466|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18936166|PMID:18940477|PMID:19123044|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19287957|PMID:19340607|PMID:19359128|PMID:19370767|PMID:19499246|PMID:19563646|PMID:19661094|PMID:19941162|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20665887|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20960228|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21559243|PMID:21643751|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22116506|PMID:22136207|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24825132|PMID:24884479|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25330149|PMID:25371446|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25652403|PMID:25682074
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:25716084|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26023681|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26219728|PMID:26246475|PMID:26250392|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26777316|PMID:26786923|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26884819|PMID:26911350|PMID:26913838|PMID:27062684|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27760710|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28145423|PMID:28152038|PMID:28222693|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28423363|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29088781|PMID:29133208|PMID:29161300|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29667044|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29752822|PMID:29758562|PMID:29785135|PMID:29790872|PMID:29805665|PMID:29901183|PMID:29907814|PMID:29922827|PMID:29936259|PMID:29961768|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30551077|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30646163|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30962250|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31325073|PMID:31341520|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31372034|PMID:31407530|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31477031|PMID:31528241|PMID:31616044|PMID:31639439|PMID:31742824|PMID:31825140|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32152249|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32371905|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32548945|PMID:32614418|PMID:32699032|PMID:32719484|PMID:32733560|PMID:32782288|PMID:32817299|PMID:32843487|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32885271|PMID:32959997|PMID:33067490|PMID:33087888|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33449224|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33484353|PMID:33606809|PMID:33758026|PMID:33875706|PMID:34046351|PMID:34063308|PMID:34290354|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34721658|PMID:34981296|PMID:35039564|PMID:35116780|PMID:35220195|PMID:35377489|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36367610|PMID:36537080|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36927983|PMID:36964191|PMID:36988593|PMID:38355628|PMID:38386807|PMID:38785549|PMID:38922859|PMID:7545954|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8571953|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:9063749|PMID:9145676|PMID:9150148|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9452076|PMID:9510469|PMID:9544766|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10090881|PMID:10196379|PMID:10227398|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10615237|PMID:10644434|PMID:10699917|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:10952777|PMID:11015464|PMID:11102986|PMID:11106241|PMID:11157798|PMID:11251181|PMID:11260866|PMID:11320250|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11466700|PMID:11504767|PMID:11526114|PMID:1157798|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11896095|PMID:11920621|PMID:12014998|PMID:12097257|PMID:12125210|PMID:12161611|PMID:12181777|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491487|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12827452|PMID:12955716|PMID:14534301|PMID:14555511|PMID:14576434|PMID:14729053|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15350310|PMID:15383404|PMID:15385441|PMID:15726418|PMID:15744030|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15955237|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16162645|PMID:16168118|PMID:16234499|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16905680|PMID:16949048|PMID:16998791|PMID:17018160|PMID:17100994|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17341484|PMID:17403394|PMID:17585057|PMID:17591843|PMID:17688236|PMID:17922257|PMID:17924331|PMID:17925560|PMID:18036263|PMID:18159056|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18418466|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18694767|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18936166|PMID:18940477|PMID:19123044|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19287957|PMID:19340607|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19499246|PMID:19563646|PMID:19661094|PMID:19941162|PMID:19949876|PMID:20103620|PMID:20104584|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20665887|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:20960228|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21232165|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21643751|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22116506|PMID:22136207|PMID:22160602|PMID:22185575|PMID:22217648|PMID:22430266|PMID:22434525|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:23110154|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23397983|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24333842|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24549055|PMID:24556621|PMID:24667779|PMID:24728189|PMID:24728327
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:24737347|PMID:24825132|PMID:24884479|PMID:24916970|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25326637|PMID:25330149|PMID:25371446|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25525159|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25741868|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26023681|PMID:26028024|PMID:26083025|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26219728|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26777316|PMID:26786923|PMID:26845104|PMID:26852015|PMID:26852130|PMID:26884819|PMID:26911350|PMID:26913838|PMID:27062684|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27153395|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27425403|PMID:27433846|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27741520|PMID:27760710|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28222693|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28423363|PMID:28480178|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29088781|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29625052|PMID:29667044|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29752822|PMID:29758562|PMID:29785135|PMID:29790872|PMID:29805665|PMID:29901183|PMID:29907814|PMID:29922827|PMID:29936259|PMID:29961768|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30263132|PMID:30274973|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30551077|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30646163|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30840646|PMID:30962250|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31325073|PMID:31341520|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31372034|PMID:31407530|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31477031|PMID:31492746|PMID:31528241|PMID:31616044|PMID:31639439|PMID:31742824|PMID:31794323|PMID:31825140|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31911673|PMID:32039725|PMID:32058061|PMID:32073954|PMID:32123317|PMID:32152249|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32371905|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32548945|PMID:32614418|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32782288|PMID:32817299|PMID:32832836|PMID:32843487|PMID:32854451|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32885271|PMID:32959997|PMID:33067490|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33442023|PMID:33449224|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33606809|PMID:33670479|PMID:33758026|PMID:33875706|PMID:34046351|PMID:34063308|PMID:34290354|PMID:34413315|PMID:34597585|PMID:34657373|PMID:34721658|PMID:34793697
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:34981296|PMID:35039564|PMID:35116780|PMID:35216584|PMID:35220195|PMID:35313928|PMID:35377489|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35833951|PMID:35908255|PMID:35918668|PMID:36003761|PMID:36171877|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36927983|PMID:36964191|PMID:36988593|PMID:37085799|PMID:38355628|PMID:38386807|PMID:38641594|PMID:38645101|PMID:38785549|PMID:38922859|PMID:39142283|PMID:7545954|PMID:7663517|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8944023|PMID:8968102|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9150148|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9452076|PMID:9510469|PMID:9544766|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9699523|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:10196379|PMID:10528853|PMID:11139249|PMID:11149413|PMID:11157798|PMID:11410501|PMID:11504767|PMID:11698567|PMID:11896095|PMID:12427738|PMID:12601471|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12827452|PMID:12938098|PMID:12955716|PMID:12960223|PMID:14534301|PMID:14973102|PMID:15133502|PMID:15133503|PMID:15168169|PMID:15172985|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15385441|PMID:15689452|PMID:15829246|PMID:16014699|PMID:16267036|PMID:16489001|PMID:16518693|PMID:16683254|PMID:16685647|PMID:16835750|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17576681|PMID:17661172|PMID:17924331|PMID:18036263|PMID:18176857|PMID:18375895|PMID:18431501|PMID:18627636|PMID:18645608|PMID:18798010|PMID:18824701|PMID:18936166|PMID:19200354|PMID:19563646|PMID:20104584|PMID:20378548|PMID:20455026|PMID:20516115|PMID:20960228|PMID:21080930|PMID:21356067|PMID:21447777|PMID:21473589|PMID:21520273|PMID:21702907|PMID:21913181|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22116506|PMID:22160602|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22703879|PMID:22713736|PMID:22762150|PMID:22843421|PMID:22889855|PMID:23096355|PMID:23161852|PMID:23175448|PMID:23231788|PMID:23393598|PMID:23867111|PMID:23996866|PMID:24033266|PMID:24082139|PMID:24249303|PMID:24393486|PMID:24448499|PMID:24504028|PMID:24569164|PMID:24728189|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25085762|PMID:25348012|PMID:25356972|PMID:25400221|PMID:25452441|PMID:25556971|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25782689|PMID:25823446|PMID:25980754|PMID:26206375|PMID:26250392|PMID:26350514|PMID:26430151|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26727311|PMID:26777316|PMID:26845104|PMID:26852015|PMID:26911350|PMID:26913838|PMID:27060149|PMID:27082205|PMID:27257965|PMID:27300552|PMID:27376475|PMID:27469594|PMID:27495310|PMID:27616075|PMID:27914478|PMID:28111427|PMID:28176296|PMID:28205045|PMID:28222693|PMID:28283652|PMID:28364669|PMID:28398198|PMID:28477318|PMID:28490613|PMID:28492532|PMID:28525389|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28961279|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29156836|PMID:29176636|PMID:29215753|PMID:29263802|PMID:29446198|PMID:29470806|PMID:29486991|PMID:29681614|PMID:29687286|PMID:29805665|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30458859|PMID:30555256|PMID:30652428|PMID:30702160|PMID:30725392|PMID:30765603|PMID:30840646|PMID:30962250|PMID:30982232|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31477031|PMID:31642931|PMID:31825140|PMID:31853058|PMID:31911673|PMID:32123317|PMID:32195105|PMID:32420470|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32719484|PMID:32885271|PMID:32980694|PMID:33087888|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33630411|PMID:33646313|PMID:33875564|PMID:34026625|PMID:34326862|PMID:34597585|PMID:34793697|PMID:34981296|PMID:35039564|PMID:35116780|PMID:35918668|PMID:36329109|PMID:36964191|PMID:36988593|PMID:37335020|PMID:37563628|PMID:37937776|PMID:38146508|PMID:38160042|PMID:38645101|PMID:39142283|PMID:39488595|PMID:7627958|PMID:8776600|PMID:9510469|PMID:9536098|PMID:9544766|PMID:9649133
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:11139249|PMID:11162473|PMID:11359908|PMID:11431698|PMID:11698567|PMID:12601471|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12890739|PMID:12960223|PMID:14973102|PMID:15168169|PMID:15340362|PMID:15365993|PMID:15385441|PMID:15829246|PMID:16199547|PMID:16267036|PMID:16835750|PMID:16943438|PMID:17011978|PMID:17576681|PMID:17661172|PMID:17924331|PMID:18431501|PMID:18627636|PMID:18936166|PMID:20104584|PMID:20960228|PMID:21080930|PMID:21156238|PMID:21913181|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22116506|PMID:22160602|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22615956|PMID:22713736|PMID:22762150|PMID:23161852|PMID:23175448|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24448499|PMID:24569164|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25400221|PMID:25525159|PMID:25682074|PMID:25741868|PMID:25823446|PMID:26250392|PMID:26295337|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26852015|PMID:26911350|PMID:26913838|PMID:27060149|PMID:27082205|PMID:27197267|PMID:27257965|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27469594|PMID:27997688|PMID:28111427|PMID:28135145|PMID:28176296|PMID:28205045|PMID:28222693|PMID:28364669|PMID:28492532|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28961279|PMID:29021639|PMID:29036293|PMID:29116469|PMID:29156836|PMID:29176636|PMID:29215753|PMID:29263802|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29681614|PMID:29687286|PMID:29805665|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30209399|PMID:30219179|PMID:30287823|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30840646|PMID:30982232|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31248605|PMID:31341520|PMID:31360874|PMID:31409081|PMID:31477031|PMID:31642931|PMID:31825140|PMID:31853058|PMID:31911673|PMID:32398771|PMID:32420470|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32885271|PMID:32895300|PMID:33413596|PMID:33471991|PMID:33646313|PMID:33801055|PMID:34026625|PMID:34326862|PMID:34793697|PMID:34981296|PMID:35116780|PMID:35534704|PMID:35918668|PMID:36331686|PMID:36964191|PMID:36988593|PMID:37335020|PMID:37937776|PMID:37958491|PMID:38160042|PMID:38645101|PMID:39142283|PMID:8972225|PMID:9536098|PMID:9649133
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1793	pancreatic cancer		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cancer of the pancreas | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 4	PMID:11102986|PMID:11139249|PMID:11157798|PMID:11162473|PMID:11359908|PMID:11431698|PMID:11698567|PMID:11802209|PMID:12393792|PMID:12601471|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12890739|PMID:12938098|PMID:12960223|PMID:14760071|PMID:14973102|PMID:15168169|PMID:15340362|PMID:15365993|PMID:15385441|PMID:15829246|PMID:16030099|PMID:16199547|PMID:16267036|PMID:16455195|PMID:16528604|PMID:16683254|PMID:16685647|PMID:16835750|PMID:16943438|PMID:16949048|PMID:17011978|PMID:17100994|PMID:17576681|PMID:17591843|PMID:17661172|PMID:17924331|PMID:17925560|PMID:18159056|PMID:18176857|PMID:18431501|PMID:18627636|PMID:18936166|PMID:19241424|PMID:19499246|PMID:19563646|PMID:20104584|PMID:20301425|PMID:20960228|PMID:21080930|PMID:21147080|PMID:21156238|PMID:21348412|PMID:21523855|PMID:21735045|PMID:21913181|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22116506|PMID:22160602|PMID:22217648|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22615956|PMID:22713736|PMID:22762150|PMID:22798144|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23233716|PMID:23239986|PMID:23479189|PMID:23867111|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24249303|PMID:24285858|PMID:24393486|PMID:24448499|PMID:24569164|PMID:24667779|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25186627|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25525159|PMID:25628955|PMID:25682074|PMID:25741868|PMID:25823446|PMID:25863477|PMID:25971625|PMID:26206375|PMID:26250392|PMID:26295337|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26852015|PMID:26911350|PMID:26913838|PMID:27060149|PMID:27082205|PMID:27197267|PMID:27257965|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27469594|PMID:27616075|PMID:27836010|PMID:27997688|PMID:28111427|PMID:28122244|PMID:28135145|PMID:28176296|PMID:28205045|PMID:28222693|PMID:28324225|PMID:28364669|PMID:28477318|PMID:28492532|PMID:28528518|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28888541|PMID:28961279|PMID:28993434|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29116469|PMID:29156836|PMID:29176636|PMID:29215753|PMID:29240602|PMID:29263802|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29681614|PMID:29687286|PMID:29805665|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30209399|PMID:30219179|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30652428|PMID:30675319|PMID:30702160|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30982232|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31248605|PMID:31294896|PMID:31341520|PMID:31360874|PMID:31409081|PMID:31477031|PMID:31642931|PMID:31825140|PMID:31853058|PMID:31911673|PMID:32398771|PMID:32420470|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32868804|PMID:32885271|PMID:32895300|PMID:33273034|PMID:33413596|PMID:33471991|PMID:33630411|PMID:33646313|PMID:33801055|PMID:33875564|PMID:34026625|PMID:34063308|PMID:34326862|PMID:34597585|PMID:34793697|PMID:34981296|PMID:35116780|PMID:35534704|PMID:35918668|PMID:36331686|PMID:36964191|PMID:36988593|PMID:37335020|PMID:37563628|PMID:37937776|PMID:37958491|PMID:38160042|PMID:38645101|PMID:38922859|PMID:39142283|PMID:8972225|PMID:9536098|PMID:9649133|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:1969	cerebral palsy		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11802209|PMID:16683254|PMID:18627636|PMID:19563646|PMID:21147080|PMID:21348412|PMID:21523855|PMID:21735045|PMID:23164213|PMID:23479189|PMID:24033266|PMID:24285858|PMID:24667779|PMID:25741868|PMID:25863477|PMID:25971625|PMID:26467025|PMID:27836010|PMID:28324225|PMID:28492532|PMID:28528518|PMID:28993434|PMID:29360161|PMID:29446198|PMID:30702160|PMID:31131967|PMID:37563628|PMID:38922859|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2030	anxiety disorder		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532|PMID:31911673
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epithelial ovarian cancer	PMID:21735045|PMID:24667779|PMID:25741868|PMID:27741520|PMID:28492532|PMID:29446198|PMID:29907814
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:33583275|REF_RGD_ID:126925959
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:219	colon cancer	susceptibility	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:7907678|REF_RGD_ID:1599497
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:10227398|PMID:10340909|PMID:10389907|PMID:10644434|PMID:10699917|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12496476|PMID:12566964|PMID:12655560|PMID:12732733|PMID:12955716|PMID:12955719|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16168118|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16949048|PMID:17100994|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17576681|PMID:17688236|PMID:17924331|PMID:18284688|PMID:18340530|PMID:18493658|PMID:18763032|PMID:18783588|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19491284|PMID:19563646|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21473589|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22889855|PMID:22970155|PMID:23161852|PMID:23199084|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25939603|PMID:25948282|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26709275|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27498913|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27831900|PMID:27886673|PMID:27907908|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28831036|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29446198|PMID:29470806|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:30093976|PMID:30103829|PMID:30209399|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30825404|PMID:30875412|PMID:31131967|PMID:31159747|PMID:31214711|PMID:31372034|PMID:31447099|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31742824|PMID:31825140|PMID:31911673|PMID:32295079|PMID:32338768|PMID:32426482|PMID:32467295|PMID:32710294|PMID:32832836|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33875706|PMID:34301763|PMID:36329109|PMID:36988593|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9510469|PMID:9536098|PMID:9663595
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:10227398|PMID:10340909|PMID:10389907|PMID:10469836|PMID:10508480|PMID:10528853|PMID:10644434|PMID:10699917|PMID:10717622|PMID:10728699|PMID:11044354|PMID:11102986|PMID:11149425|PMID:11157798|PMID:11251181|PMID:11320250|PMID:11389159|PMID:11504767|PMID:11802209|PMID:12181777|PMID:12183412|PMID:12393792|PMID:12402341|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12531920|PMID:12566964|PMID:12655560|PMID:12732733|PMID:12955716|PMID:12955719|PMID:14647443|PMID:14973102|PMID:15024741|PMID:15066328|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15383404|PMID:15385441|PMID:15865297|PMID:15876480|PMID:16014699|PMID:16168118|PMID:16199547|PMID:16261400|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16518693|PMID:16683254|PMID:16905680|PMID:16949048|PMID:17063270|PMID:17100994|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17453335|PMID:17574969|PMID:17576681|PMID:17688236|PMID:17924331|PMID:18097605|PMID:18284688|PMID:18340530|PMID:18403564|PMID:18489799|PMID:18493658|PMID:18567944|PMID:18757339|PMID:18763032|PMID:18783588|PMID:18936166|PMID:18951461|PMID:19016756|PMID:19200354|PMID:19208665|PMID:19370767|PMID:19491284|PMID:19563646|PMID:19629655|PMID:19941162|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20215541|PMID:20373018|PMID:20516115|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21372787|PMID:21394826|PMID:21473589|PMID:21520273|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21725363|PMID:21751003|PMID:21922593|PMID:21965345|PMID:21989927|PMID:21990134|PMID:22006311|PMID:22034289|PMID:22217648|PMID:22476429|PMID:22505045|PMID:22516946|PMID:22711857|PMID:22737296|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22856468|PMID:22889855|PMID:22970155|PMID:23034506|PMID:23161852|PMID:23199084|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23683081|PMID:23767878|PMID:23867111|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24212087|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24489791|PMID:24504028|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24845084|PMID:24884479|PMID:24916970|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25637381|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25802882|PMID:25823446|PMID:25884701|PMID:25893891|PMID:25939603|PMID:25948282|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26206375|PMID:26219728|PMID:26295337|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26350514|PMID:26467025|PMID:26541979|PMID:26689913|PMID:26764160|PMID:26848151|PMID:26852130|PMID:26884819|PMID:26976419|PMID:27153395|PMID:27157322|PMID:27257965|PMID:27272900|PMID:27425403|PMID:27478808|PMID:27498913|PMID:27509926|PMID:27553368|PMID:27658390|PMID:27741520|PMID:27802165|PMID:27886673|PMID:27907908|PMID:27914478|PMID:28111427|PMID:28176296|PMID:28265380|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28440963|PMID:28477318|PMID:28480178|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28781887|PMID:28831036|PMID:28888541|PMID:28970858|PMID:28993434|PMID:29020732|PMID:29053726|PMID:29088781|PMID:29161300|PMID:29176636|PMID:29215753|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29339979|PMID:29348823|PMID:29446198|PMID:29470806|PMID:29625052|PMID:29667044|PMID:29681614|PMID:29712865|PMID:29731985|PMID:29752822|PMID:29868112|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30203341|PMID:30209399|PMID:30219179|PMID:30287823|PMID:30322717|PMID:30415210|PMID:30548481|PMID:30555256|PMID:30606148|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:31125277|PMID:31131967|PMID:31159747|PMID:31161121|PMID:31214711|PMID:31263571|PMID:31336956|PMID:31372034|PMID:31454914|PMID:31472684|PMID:31528241|PMID:31589614|PMID:31742824|PMID:31794323|PMID:31825140|PMID:31907386|PMID:31911673|PMID:32073954|PMID:32211327|PMID:32295079|PMID:32338768|PMID:32426482
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:32467295|PMID:32710294|PMID:32832836|PMID:32879886|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33047316|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33468216|PMID:33471991|PMID:33478551|PMID:33654310|PMID:33670479|PMID:33875706|PMID:34301763|PMID:34793697|PMID:34981296|PMID:35216584|PMID:35220195|PMID:35313928|PMID:35833951|PMID:35918668|PMID:36171877|PMID:36329109|PMID:36367610|PMID:36451132|PMID:36833189|PMID:36881271|PMID:36988593|PMID:37335020|PMID:38386807|PMID:38641594|PMID:38645101|PMID:38785549|PMID:38922859|PMID:39142283|PMID:7581445|PMID:7611277|PMID:7837387|PMID:7894493|PMID:8531967|PMID:8644702|PMID:8723683|PMID:8807330|PMID:9150149|PMID:9150154|PMID:9333265|PMID:9510469|PMID:9523200|PMID:9536098|PMID:9544766|PMID:9663595|PMID:9760198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2394	ovarian cancer		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer | ClinVar Annotator: match by term: ovarian cancer	PMID:10227398|PMID:10323242|PMID:10340909|PMID:10644434|PMID:10882858|PMID:11139249|PMID:11149425|PMID:11179017|PMID:11320250|PMID:11802209|PMID:12181777|PMID:12402341|PMID:12531920|PMID:12655560|PMID:12759930|PMID:12827452|PMID:12955716|PMID:12960223|PMID:14973102|PMID:15001988|PMID:15145354|PMID:15146556|PMID:15235020|PMID:15353005|PMID:15385441|PMID:15829246|PMID:15865297|PMID:15951958|PMID:16014699|PMID:16030099|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16287141|PMID:16518693|PMID:16683254|PMID:16758124|PMID:17250666|PMID:17453335|PMID:17576681|PMID:17688236|PMID:17924331|PMID:18006916|PMID:18489799|PMID:18936166|PMID:19491284|PMID:19543972|PMID:20104584|PMID:20167696|PMID:20858050|PMID:21080930|PMID:21156238|PMID:21324516|PMID:21520273|PMID:21520333|PMID:21553119|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21913181|PMID:21922593|PMID:21990134|PMID:22006311|PMID:22072316|PMID:22217648|PMID:22333603|PMID:22430266|PMID:22505045|PMID:22711857|PMID:22737296|PMID:22752604|PMID:22762150|PMID:22798144|PMID:22843421|PMID:23161852|PMID:23239986|PMID:23242139|PMID:23536787|PMID:23555315|PMID:23867111|PMID:23893897|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24212087|PMID:24218521|PMID:24448499|PMID:24489791|PMID:24728189|PMID:25085752|PMID:25366421|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25823446|PMID:25948282|PMID:26028024|PMID:26221963|PMID:26317927|PMID:26332594|PMID:26467025|PMID:26541979|PMID:26577449|PMID:26689913|PMID:26824983|PMID:26845104|PMID:27257965|PMID:27454287|PMID:27469594|PMID:27553291|PMID:27658390|PMID:27798748|PMID:27882536|PMID:28111427|PMID:28176296|PMID:28324225|PMID:28364669|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28724667|PMID:28888541|PMID:28993434|PMID:29020732|PMID:29297111|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29452958|PMID:29470806|PMID:29625052|PMID:29681614|PMID:29752822|PMID:29907814|PMID:30101128|PMID:30130155|PMID:30204945|PMID:30209399|PMID:30219179|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30415210|PMID:30555256|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30875412|PMID:31112341|PMID:31131967|PMID:31159747|PMID:31294896|PMID:31341520|PMID:31372034|PMID:31528241|PMID:31825140|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:32211327|PMID:32467295|PMID:32710294|PMID:32745242|PMID:32832836|PMID:32879886|PMID:32959997|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33278427|PMID:33442023|PMID:33471991|PMID:33758026|PMID:34178674|PMID:34503154|PMID:34981296|PMID:35101336|PMID:35918668|PMID:36200007|PMID:36988593|PMID:37970346|PMID:7493024|PMID:7581445|PMID:7894493|PMID:8723683|PMID:9150154|PMID:9510469|PMID:9536098|PMID:9649133|PMID:9808526
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:insertion: :5382insC	PMID:18256760|REF_RGD_ID:2293152
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:2841	asthma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532|PMID:31911673
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Invasive Ductal Carcinoma, Not Otherwise Specified | ClinVar Annotator: match by term: Invasive ductal carcinoma	PMID:20104584|PMID:22798144|PMID:25741868|PMID:28492532|PMID:30078507|PMID:30702160|PMID:30720863
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:305	carcinoma		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203372
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3275	thymoma		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:1673748|PMID:17924331|PMID:21673748|PMID:21990134|PMID:22505045|PMID:25741868|PMID:26287763|PMID:26334176|PMID:28492532
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3458	breast adenocarcinoma	treatment	ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:8589721|REF_RGD_ID:126925966
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3459	breast carcinoma		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma | ClinVar Annotator: match by term: Carcinoma of breast	PMID:11044645|PMID:11102986|PMID:11162473|PMID:11359908|PMID:11431698|PMID:11802209|PMID:12393792|PMID:12491487|PMID:12890739|PMID:14760071|PMID:15340362|PMID:16199547|PMID:16267036|PMID:16528604|PMID:16683254|PMID:16943438|PMID:17011978|PMID:17576681|PMID:18627636|PMID:19491284|PMID:19563646|PMID:20104584|PMID:20373018|PMID:21147080|PMID:21156238|PMID:21348412|PMID:21523855|PMID:21614564|PMID:21735045|PMID:22460208|PMID:22615956|PMID:23110154|PMID:23164213|PMID:23175448|PMID:23239986|PMID:23479189|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24285858|PMID:24569164|PMID:24667779|PMID:25186627|PMID:25452441|PMID:25525159|PMID:25741868|PMID:25863477|PMID:25971625|PMID:26187060|PMID:26295337|PMID:26467025|PMID:26681312|PMID:26848529|PMID:26976419|PMID:27062684|PMID:27197267|PMID:27328445|PMID:27741520|PMID:27836010|PMID:27997688|PMID:28135145|PMID:28176296|PMID:28324225|PMID:28492532|PMID:28528518|PMID:28541631|PMID:28724667|PMID:28888541|PMID:28993434|PMID:29021639|PMID:29116469|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29907814|PMID:30093976|PMID:30209399|PMID:30287823|PMID:30675319|PMID:30702160|PMID:30728895|PMID:30736435|PMID:30787465|PMID:30968603|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31336956|PMID:31341520|PMID:31853058|PMID:31871109|PMID:31911673|PMID:32318955|PMID:32398771|PMID:32438681|PMID:32885271|PMID:32895300|PMID:33273034|PMID:33471991|PMID:33801055|PMID:35534704|PMID:36331686|PMID:37563628|PMID:37958491|PMID:38922859|PMID:8808710|PMID:8972225|PMID:9536098|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:18400253|REF_RGD_ID:2293150
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3498	pancreatic ductal adenocarcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic Ductal Adenocarcinoma	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:69132	D	RGD:9068941	20210521	RGD		DNA:SNP: :rs799917 (human)	PMID:23749772|REF_RGD_ID:126925960
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:69132	D	RGD:9068941	20210604	RGD			PMID:21575522|PMID:23128816|REF_RGD_ID:126925968|REF_RGD_ID:127229935
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:69132	D	RGD:9068941	20210604	RGD		DNA:hypermethylation:promoter	PMID:23335114|REF_RGD_ID:127229949
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:69132	D	RGD:9068941	20210604	RGD			PMID:24443257|REF_RGD_ID:127229948
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Papillary thyroid carcinoma	PMID:19491284|PMID:20104584|PMID:25741868|PMID:26467025|PMID:28492532
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:4001	ovarian carcinoma		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:11044645|PMID:15340362|PMID:16267036|PMID:16826315|PMID:20104584|PMID:20373018|PMID:21614564|PMID:23175448|PMID:24916970|PMID:25452441|PMID:25741868|PMID:26187060|PMID:26467025|PMID:26848529|PMID:27062684|PMID:27741520|PMID:27836010|PMID:28176296|PMID:28492532|PMID:28541631|PMID:28724667|PMID:29446198|PMID:29907814|PMID:30093976|PMID:30702160|PMID:30720863|PMID:30736435|PMID:30968603|PMID:31336956|PMID:32318955|PMID:32438681|PMID:8808710
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:403	mouth disease		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:12773202|REF_RGD_ID:2298941
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of head of pancreas	PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5041	esophageal cancer		ISO	RGD:69132	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:543	dystonia		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:26467025|PMID:28492532|PMID:30209399|PMID:31853058|PMID:33471991|PMID:34793697|PMID:38645101|PMID:39142283
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:23569343|REF_RGD_ID:9589059
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:7240710	20260729	OMIM			
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:125827|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16633366|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:255556971|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25723446|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067557|PMID:33078592|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome	PMID:33948387|PMID:34063308|PMID:34271787|PMID:34301763|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28166811|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209299|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:35300142|PMID:35464868|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33428613|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35464868|PMID:35535697|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35886069|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14871810|PMID:14961556|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878|PMID:35300142|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35420638|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10612827|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22116506
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33654645|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34271787|PMID:34290354
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36171434|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37280479|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37280479|PMID:37335020|PMID:37523182|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12599199|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26373788|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067075|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12599199|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25787132|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:37719058|PMID:37731153|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:37719058|PMID:37731153|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:37719058|PMID:37731153|PMID:38922859|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:38439815|PMID:38645101|PMID:38922859|PMID:39142283|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36011273|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37168384|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37851290|PMID:38355628|PMID:38386807|PMID:38439815|PMID:38645101|PMID:38785549|PMID:38922859|PMID:39142283|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12599199|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37149903|PMID:37168384|PMID:37182128|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38153744|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38538877|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:2284342|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26003801|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34621001|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37149903|PMID:37168384|PMID:37182128|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37664050|PMID:37718511|PMID:37719058
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and Ovarian Cancer Susceptibility | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:37731132|PMID:37731153|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38520597|PMID:38538877|PMID:38566028|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:18243530|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:2118378|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:2284342|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26003801|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:27852271|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31917386|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37149903|PMID:37168384|PMID:37182128|PMID:37277882|PMID:37280479|PMID:37310942
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38520597|PMID:38538877|PMID:38566028|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39041507|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:591403|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:2118378|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21681106|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31917386|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11114888|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12599199|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:25141179|PMID:25151137|PMID:25159151|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26003801|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33691754|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:3517125|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36785489|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37121054|PMID:37149903|PMID:37168384
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:37182128|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37444530|PMID:37460928|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38520597|PMID:38538877|PMID:38566028|PMID:38640836|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39041507|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:39488595|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435598|PMID:10441573|PMID:10447273|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11424920|PMID:11428389|PMID:11433401|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11873550|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12599199|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14689060|PMID:14722926
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14760071|PMID:14871810|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15477862|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16101277|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17185394|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17513806|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17718857|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:2118378|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:28692638|PMID:28715532|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31745186|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31917386|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33674644|PMID:33691754|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34290354|PMID:34296289|PMID:34301763
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:34308104|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35150867|PMID:35165121|PMID:35167739|PMID:3517125|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36612302|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37085799|PMID:37121054|PMID:37149903|PMID:37168384|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37733863|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38566028|PMID:38640836|PMID:38641594|PMID:38645101|PMID:38709234|PMID:38785549|PMID:38814507|PMID:38922859|PMID:39041507|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:39488595|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8875986|PMID:8880569|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9200354|PMID:9254884|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19683496|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727220|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20840220|PMID:20848184|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:2118378|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21327469|PMID:213324516|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21859355|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24686251|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:25151137|PMID:25159151|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26003801|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26625824|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27852271|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28771233|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29852322|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30032850|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31064392|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31917386|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33691754|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:3517125|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36785489|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37121054|PMID:37149903|PMID:37168384|PMID:37182128
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related disorder	PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37444530|PMID:37460928|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38520597|PMID:38538877|PMID:38566028|PMID:38640836|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39041507|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:39488595|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9041180|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9274454|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9714446|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:10026184|PMID:10090482|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10459348|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:11013445|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11256609|PMID:11260866|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11448907|PMID:11462239|PMID:11463009|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12060539|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872252|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14760071|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15591272|PMID:15609993
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15735322|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15983021|PMID:15998910|PMID:16014699|PMID:16030099|PMID:16084575|PMID:16101277|PMID:16111488|PMID:16140926|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16403807|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16772120|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17319787|PMID:17333342|PMID:17369502|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17531442|PMID:17543120|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17697535|PMID:17718857|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18278587|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18311584|PMID:18330910|PMID:18375895|PMID:18403564|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951449|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19190334|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19669600|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20180971|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20455026
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20596889|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21042765|PMID:21080930|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21213370|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21327469|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21712546|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22078348|PMID:22084573|PMID:22113256|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22923021|PMID:22970155|PMID:22984553|PMID:22995991|PMID:23034506|PMID:23086583|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23175448|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23885733|PMID:23893897|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23967248|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24065545|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24156927|PMID:24212087|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24629067|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24686251|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:24784157|PMID:24797986|PMID:2482513|PMID:24825132|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25236687|PMID:25248401|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25428229|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052455|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26467025|PMID:26515461|PMID:26534844|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26757417|PMID:26764160|PMID:26778126|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27081505|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27446417|PMID:27456091|PMID:27469594|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27531819|PMID:27553291|PMID:27553368|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27697421|PMID:27720647|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760710|PMID:27767231|PMID:27798748|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27854218|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27983536|PMID:27989354|PMID:27995669|PMID:28024868|PMID:28087643|PMID:28111427|PMID:28122244|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28452373|PMID:28467829|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28492532|PMID:28503720|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:28569743|PMID:28588062|PMID:28588830|PMID:28595730|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28751443|PMID:28771233|PMID:28781887|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29215764|PMID:29236234|PMID:29240602|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29805665|PMID:29854283|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936259|PMID:29940740|PMID:29945567|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30264118|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30603682|PMID:30606148|PMID:30623411|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31064392|PMID:31086113|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31422574|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31694833|PMID:31705708|PMID:31706072|PMID:31742824|PMID:31745186|PMID:3175448
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:31759379|PMID:31771539|PMID:31780705|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31924417|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32042831|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32123317|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32398771|PMID:32410793|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32483276|PMID:32486089|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32971473|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33083013|PMID:33083949|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33106425|PMID:33113089|PMID:33194720|PMID:33206196|PMID:33230308|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33285109|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33428613|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33643918|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33691754|PMID:33724863|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33881725|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34034685|PMID:34045478|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34130653|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34235180|PMID:34254208|PMID:34271787|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34490083|PMID:34572941|PMID:34597585|PMID:34601666|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34884835|PMID:34887416|PMID:34917121|PMID:34926252|PMID:34953602|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35070997|PMID:35101336|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35218119|PMID:35220195|PMID:35236825|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35377489|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35698740|PMID:35712480|PMID:35729312|PMID:35731312|PMID:35753294|PMID:35778884|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35902772|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36292577
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition	PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36551643|PMID:36605468|PMID:36612041|PMID:36620844|PMID:36627008|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36785489|PMID:36833189|PMID:36881271|PMID:36927983|PMID:36988593|PMID:36999648|PMID:37085799|PMID:37097611|PMID:37149903|PMID:37168384|PMID:37234870|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37970346|PMID:38110397|PMID:38127826|PMID:38136308|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38188288|PMID:38219492|PMID:38300310|PMID:38311546|PMID:38324470|PMID:38333895|PMID:38354330|PMID:38355628|PMID:38386807|PMID:38439815|PMID:38566028|PMID:38640836|PMID:38645101|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38892462|PMID:38922859|PMID:38974244|PMID:39041507|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:39488595|PMID:39550490|PMID:39582020|PMID:39590369|PMID:39733403|PMID:40413188|PMID:40714512|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8751436|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8840964|PMID:8875986|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8972225|PMID:9010228|PMID:9042907|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150149|PMID:9150151|PMID:9150171|PMID:9159158|PMID:9192828|PMID:9197534|PMID:9200354|PMID:9254884|PMID:9285788|PMID:9291911|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9482581|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585608|PMID:9609997|PMID:9616287|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9665150|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699640|PMID:9714446|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10026184|PMID:10090482|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10459348|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10978226|PMID:10980541|PMID:11013445|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11250694|PMID:11256609|PMID:11260866|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11448907|PMID:11462239|PMID:11463009|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12060539|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12181777|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872252|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14760071|PMID:14961556|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15591272|PMID:15609993|PMID:15617999
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15735322|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15983021|PMID:15998910|PMID:16014699|PMID:16030099|PMID:16084575|PMID:16101277|PMID:16111488|PMID:16140926|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16403807|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16772120|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17319787|PMID:17333342|PMID:17369502|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17531442|PMID:17543120|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17697535|PMID:17718857|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18042939|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18311584|PMID:18330910|PMID:18375895|PMID:18403564|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951449|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19190334|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19669600|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20180971|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ABRAXAS1-related condition | ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Familial breast-ovarian cancer 1 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20596889|PMID:20614180|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21042765|PMID:21080930|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21213370|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21327469|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21712546|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22084573|PMID:22113256|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22923021|PMID:22970155|PMID:22984553|PMID:22995991|PMID:23034506|PMID:23086583|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23175448|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23211700|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23885733|PMID:23893897|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23967248|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24065545|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24156927|PMID:24212087|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24629067|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24686251|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:2482513|PMID:24825132|PMID:24830819
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10026184|PMID:10090482|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10459348|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10737987|PMID:10755399|PMID:10790221|PMID:10804288|PMID:10811118|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952777|PMID:10978226|PMID:10980541|PMID:11013445|PMID:11016938|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11463009|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12060539|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12442265|PMID:12442274|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14569140|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14760071|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146556|PMID:15146557|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15800311|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15887246|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:15951957|PMID:15951958|PMID:15951973|PMID:15983021|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16101277|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16452482|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16772120|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17319787|PMID:17333342|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17531442|PMID:17543120|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17697535|PMID:17718857|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18311584|PMID:18330910|PMID:18375895|PMID:18403564|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18752448|PMID:18757339|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951449|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19669600|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20029420|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20180971|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20711688|PMID:20727672|PMID:207276720
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21042765|PMID:21080930|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21213370|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21327469|PMID:2134516|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21863257|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:22072316|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22875147|PMID:22889855|PMID:22896685|PMID:22923021|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23893897|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24131973|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24686251|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24797986|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25085752|PMID:25085762|PMID:25136594|PMID:25141179|PMID:25151137|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26052455|PMID:26075997|PMID:26083025|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26467025|PMID:26515461|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26757417|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26951538|PMID:26956035|PMID:26976419|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27449771|PMID:27456091|PMID:27469594|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27531819|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27697421|PMID:27739435|PMID:27741520|PMID:27756336|PMID:27760710|PMID:27767231|PMID:27798748|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27844240|PMID:27852271|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27983536|PMID:27989354|PMID:27995669|PMID:28024868|PMID:28050010|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28423363|PMID:28439188|PMID:28467829|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28595730|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28751443|PMID:28767289|PMID:28781887|PMID:28802053|PMID:28807866|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:29088781|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310340|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29580235|PMID:29582426|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29805665|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29963112|PMID:29975922|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30159786|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30219179|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30623411|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31064392|PMID:31086113|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31694833|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31892343|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31954625|PMID:31957001|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32029870|PMID:32042831|PMID:32050665|PMID:32072338|PMID:32091409|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32203205|PMID:32211327|PMID:32257056|PMID:32269290|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32398771|PMID:32410793
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:32420470|PMID:32427313|PMID:32438681|PMID:32451972|PMID:32467295|PMID:32486089|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32566972|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33037428|PMID:33054725|PMID:33057194|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33106425|PMID:33113089|PMID:33194720|PMID:33230308|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33691754|PMID:33720054|PMID:33754277|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33881725|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34045478|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34482403|PMID:34490083|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34601666|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34884835|PMID:34887416|PMID:34926252|PMID:34930165|PMID:34953602|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35070997|PMID:35087763|PMID:35101336|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35218119|PMID:35220195|PMID:35236825|PMID:35264596|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35377489|PMID:35402282|PMID:35420638|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35729312|PMID:35753294|PMID:35778884|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35949594|PMID:35950060|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36008414|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36493725|PMID:36531003|PMID:36537080|PMID:36551643|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36627008|PMID:36644153|PMID:36660366|PMID:36753473|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922933|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37085799|PMID:37121054|PMID:37149903|PMID:37168384|PMID:37234870|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37444530|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37851290|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37970346|PMID:38110397|PMID:38127826|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38300310|PMID:38311546|PMID:38354330
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:38355628|PMID:38386807|PMID:38398132|PMID:38439815|PMID:38640836|PMID:38645101|PMID:38652475|PMID:38673061|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38892462|PMID:38922859|PMID:38974244|PMID:39041507|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39272924|PMID:39402389|PMID:39488595|PMID:39550490|PMID:39565531|PMID:39590369|PMID:39733403|PMID:40225916|PMID:40413188|PMID:40714512|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7837387|PMID:7894491|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8602198|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8840964|PMID:8875986|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9159158|PMID:9200354|PMID:9254884|PMID:9285788|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9714446|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9796975|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10026184|PMID:10090482|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10459348|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10737987|PMID:10755399|PMID:10790221|PMID:10804288|PMID:10811118|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952777|PMID:10978226|PMID:10980541|PMID:11013445|PMID:11016938|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11250694|PMID:11256609|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11463009|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12060539|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161611|PMID:12181777|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12442265|PMID:12442274|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14760071|PMID:14961556|PMID:14973102|PMID:14985394|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146556|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15515971|PMID:15532023|PMID:15533909|PMID:15571962|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15735322|PMID:15744030|PMID:15800311|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15887246|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15983021
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16452482|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16772120|PMID:16777318|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17319787|PMID:17333342|PMID:17333343|PMID:17341484|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17531442|PMID:17543120|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17697535|PMID:17718857|PMID:17719744|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18204050|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18311584|PMID:18330910|PMID:18375895|PMID:18403564|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19669600|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20029420|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20180971|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20455026|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20616022|PMID:20617377|PMID:20638108|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20711688|PMID:20727672|PMID:207276720|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20858050|PMID:20859677
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21042765|PMID:21080930|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21213370|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21327469|PMID:2134516|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21863257|PMID:21883705|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22034289|PMID:22034435|PMID:22044689|PMID:22072316|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22889855|PMID:22896685|PMID:22923021|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:2316185|PMID:23161852|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23269703|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23893897|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24393486|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24686251|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24797986|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25085752|PMID:25136594|PMID:25141179|PMID:25151137|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25236687|PMID:25248401|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:25480878|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26052455|PMID:26075997|PMID:26083025|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:26207792|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26467025|PMID:26515461|PMID:26530882|PMID:26534844|PMID:26541979|PMID:26543556|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26757417|PMID:26778126|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27449771|PMID:27456091|PMID:27469594|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27531819|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27767231|PMID:27798748|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27974384|PMID:27983536|PMID:27989354|PMID:27995669|PMID:27997688|PMID:28024868|PMID:28050010|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28423363|PMID:28439188|PMID:28467829|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28492532|PMID:28503720|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28767289|PMID:28781887|PMID:28802053|PMID:28807866|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310340|PMID:29310832|PMID:29335924|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29452958|PMID:29467240|PMID:29470806|PMID:29483665|PMID:29484706|PMID:29487695|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29641532|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29963112|PMID:29975922|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30159786|PMID:30199306|PMID:30203341|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30219179|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30623411|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31064392|PMID:31086113|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341951|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31415627|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31694833|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31892343|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31924417|PMID:31954625|PMID:31957001|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32025337|PMID:32029870|PMID:32042831|PMID:32050665|PMID:32072338|PMID:32091409|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32164585|PMID:32211327|PMID:32257056|PMID:32269290|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32398771|PMID:32410793|PMID:32420470|PMID:32427313|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32566972|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:32846166|PMID:32850417|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33037428|PMID:33054725|PMID:33057194|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33083949|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33106425|PMID:33113089|PMID:33194720|PMID:33230308|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33691754|PMID:33720054|PMID:33754277|PMID:33758026|PMID:33801055|PMID:33804961|PMID:33850850|PMID:33858678|PMID:33875706|PMID:33881725|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34045478|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34482403|PMID:34490083|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34601666|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34884835|PMID:34887416|PMID:34926252|PMID:34930165|PMID:34953602|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35070997|PMID:35087763|PMID:35101336|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35218119|PMID:35220195|PMID:35236825|PMID:35264596|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35377489|PMID:35402282|PMID:35420638|PMID:35449021|PMID:35451682|PMID:35464868|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35729312|PMID:35753294|PMID:35778884|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35949594|PMID:35950060|PMID:35957908|PMID:35980532|PMID:35982159|PMID:36008414|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36493725|PMID:36531003|PMID:36537080|PMID:36551643|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36627008|PMID:36644153|PMID:36660366|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922933|PMID:36964191|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37121054|PMID:37168384|PMID:37234870|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37563628|PMID:37578980|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37958491|PMID:37970346|PMID:38110397|PMID:38127826|PMID:38136308|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38300310|PMID:38311546|PMID:38354330|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38439815|PMID:38640836|PMID:38645101|PMID:38652475|PMID:38673061|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38892462|PMID:38922859|PMID:38974244|PMID:39041507|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39272924|PMID:39281752|PMID:39402389|PMID:39488595|PMID:39550490|PMID:39590369|PMID:39733403|PMID:40225916|PMID:40413188|PMID:40714512|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7627958|PMID:7680524
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Deleterious RAD51D Gene Mutation | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:7791869|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8602198|PMID:8622478|PMID:8644702|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8840964|PMID:8875986|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9145678|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9200354|PMID:9254884|PMID:9285788|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9714446|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9792861|PMID:9796975|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:10026184|PMID:10090482|PMID:10090881|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10435598|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10459348|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10682686|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10790221|PMID:10804288|PMID:10811118|PMID:10827109|PMID:10851077|PMID:10862036|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918394|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952777|PMID:10978226|PMID:10980541|PMID:11013445|PMID:11016938|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11256609|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11385711|PMID:11389159|PMID:11400546|PMID:11410501|PMID:11424920|PMID:11428389|PMID:11431698|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11463009|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:117470134|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11877378|PMID:11880951|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12036913|PMID:12037674|PMID:12048272|PMID:12060539|PMID:12070551|PMID:12080089|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12181777|PMID:12188064|PMID:12203994|PMID:12203997|PMID:12204006|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427738|PMID:12442265|PMID:12442274|PMID:12453858|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12670888|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700174|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12938098|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14569140|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14760071|PMID:14961556|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146556|PMID:15162129|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15285897|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15385441|PMID:15447980|PMID:15475941|PMID:15515971|PMID:15532023|PMID:15571962|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15681486|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15735322|PMID:15744030|PMID:15800311|PMID:15829246|PMID:15846789|PMID:15863663|PMID:15865297|PMID:15876480|PMID:15887246|PMID:1589246
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15951973|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16084575|PMID:16101277|PMID:16111488|PMID:16140926|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16397213|PMID:16403807|PMID:16452482|PMID:16455195|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:16724249|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16772120|PMID:16786532|PMID:16793929|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16843109|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17174087|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333342|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17470134|PMID:17493881|PMID:17531442|PMID:17543120|PMID:17561994|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17646271|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17697535|PMID:17718857|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18165637|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18276013|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18403564|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18501021|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18594935|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951446|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19352458|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19383375|PMID:19393826|PMID:19404736|PMID:19405875|PMID:19405878|PMID:19452558|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19669600|PMID:19706752|PMID:19763152|PMID:19770511|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19865540|PMID:19892845|PMID:19894111|PMID:19906413|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20|PMID:20029420|PMID:20033483|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20135348|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20180971|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20305393|PMID:20307669|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20596889|PMID:20616022
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:20617377|PMID:20638108|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20711688|PMID:20727672|PMID:207276720|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20840220|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:21042765|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21190077|PMID:21203900|PMID:21213370|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21327469|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:21404118|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21709188|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22084573|PMID:22113256|PMID:22116506|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22399190|PMID:22406018|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22473970|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22763381|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:2284342|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22889855|PMID:22896685|PMID:22923021|PMID:22970155|PMID:22984553|PMID:22995991|PMID:23034506|PMID:23086583|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23117300|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23200932|PMID:23210696|PMID:23216102|PMID:23223007|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23269703|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23640417|PMID:23658460|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23879077|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23967248|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24156927|PMID:24212087|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24522996|PMID:24549055|PMID:24566764|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24686251|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:2482513|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916180|PMID:24916970|PMID:24947589|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:2505045|PMID:25056273|PMID:25066186|PMID:25066507|PMID:25067956|PMID:25085752|PMID:25136594|PMID:25141179|PMID:25151137|PMID:2516115|PMID:25176351|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25480878|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25640679|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25678442|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25925381|PMID:25927356|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26052229|PMID:26052455|PMID:26075997|PMID:26083025|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26207792|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26271414|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26440929|PMID:26467025|PMID:26515461|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26757417|PMID:26778126|PMID:26780556|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27449771|PMID:27456091|PMID:27469594|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27509926|PMID:27531819|PMID:27533253|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27739435|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27767231|PMID:27802165|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27852271|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27974384|PMID:27983536|PMID:27989354|PMID:27995669|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28324225|PMID:28339459|PMID:28349240|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28467829|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28488140|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28595730|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28767289|PMID:28781887|PMID:28802053|PMID:28807866|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310340|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29446198|PMID:29452958|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29566657|PMID:29580235|PMID:29582426|PMID:29625052|PMID:29641532|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29805665|PMID:29868112|PMID:29884136|PMID:29884841|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:30014164|PMID:30032850|PMID:30039884|PMID:30040829|PMID:30054569|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30207098|PMID:30209339|PMID:30209399|PMID:30212499|PMID:30219179|PMID:30235698|PMID:30247247|PMID:30254663|PMID:30257212|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30541756|PMID:30542053|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30623411|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30836094|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31064392|PMID:31065452|PMID:31086113|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341951|PMID:31343793|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31415627|PMID:31432501|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31476665|PMID:31477031|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31694833|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31892343|PMID:31897316|PMID:31907386
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:31908633|PMID:31911673|PMID:31912679|PMID:31924417|PMID:31954625|PMID:31957001|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32059136|PMID:32072338|PMID:32091409|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32164585|PMID:32203205|PMID:32211327|PMID:32257056|PMID:32269290|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32398771|PMID:32410793|PMID:32420470|PMID:32427313|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32732220|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32963034|PMID:32971473|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33037428|PMID:33054725|PMID:33057194|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33106425|PMID:33113089|PMID:33194720|PMID:33230308|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33691754|PMID:33720054|PMID:33754277|PMID:33758026|PMID:33801055|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33881725|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34045478|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34482403|PMID:34490083|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34601666|PMID:34621001|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34884835|PMID:34887416|PMID:34926252|PMID:34953602|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35070997|PMID:35087763|PMID:35101336|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35218119|PMID:35220195|PMID:35236825|PMID:35264596|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35377489|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35534113|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35641994|PMID:35654374|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35729312|PMID:35753294|PMID:35778884|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35949594|PMID:35950060|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35982159|PMID:36003761|PMID:36008414|PMID:36147908|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36329109|PMID:36331686|PMID:36345163|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36493725|PMID:36537080|PMID:36551643|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36612302|PMID:36627008|PMID:36644153|PMID:36660366|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922933|PMID:36964191|PMID:36977404
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer | ClinVar Annotator: match by term: Hereditary Breast and Ovarian Cancer Syndrome | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer | ClinVar Annotator: match by term: RAD51D-related cancer predisposition | ClinVar Annotator: match by term: RAD51D-related disorder | ClinVar Annotator: match by term: breast- ovarian cancer, familial, susceptibility to 1 | ClinVar Annotator: match by term: hereditary breast and ovarian cancer syndrome	PMID:36988593|PMID:37060015|PMID:37085799|PMID:37121054|PMID:37168384|PMID:37234870|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37444530|PMID:37523182|PMID:37563628|PMID:37578980|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37958491|PMID:37970346|PMID:38110397|PMID:38127826|PMID:38136308|PMID:38153744|PMID:38160042|PMID:38167124|PMID:38219492|PMID:38271184|PMID:38300310|PMID:38311546|PMID:38324470|PMID:38354330|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38439815|PMID:38640836|PMID:38645101|PMID:38652475|PMID:38673061|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38892462|PMID:38922859|PMID:38974244|PMID:39041507|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39272924|PMID:39281752|PMID:39402389|PMID:39488595|PMID:39550490|PMID:39590369|PMID:39673470|PMID:39733403|PMID:40225916|PMID:40413188|PMID:40714512|PMID:41595228|PMID:6455195|PMID:6681312|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7611277|PMID:7627958|PMID:7680524|PMID:7791869|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8602198|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8751436|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8972225|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9145678|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9200354|PMID:9254884|PMID:9285788|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9714446|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9792861|PMID:9796975|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9915971|PMID:9927062
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5744	ovary serous adenocarcinoma		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous surface papillary adenocarcinoma	PMID:16084575|PMID:16455195|PMID:16949048|PMID:17100994|PMID:19656164|PMID:20033483|PMID:20104584|PMID:20950396|PMID:22160602|PMID:22217648|PMID:22382806|PMID:22762150|PMID:22798144|PMID:23633455|PMID:23961350|PMID:24728189|PMID:24916970|PMID:25741868|PMID:25863477|PMID:26402875|PMID:26467025|PMID:27167707|PMID:27836010|PMID:28111427|PMID:28492532|PMID:29348823|PMID:29446198|PMID:29907814|PMID:30078507|PMID:30257646|PMID:30702160|PMID:31853058|PMID:32019277|PMID:40413188
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:7998	hyperthyroidism		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:26467025|PMID:26689913|PMID:28492532|PMID:28781887|PMID:30765603|PMID:31853058|PMID:35196514|PMID:35665744
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:69132	D	RGD:9068941	20200609	RGD		DNA:deletions:exon	PMID:10442317|REF_RGD_ID:2298942
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203372
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002221	Hyperplasia		ISO	RGD:10246	D	RGD:9068941	20200609	RGD			PMID:11889595|REF_RGD_ID:2293156
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17585057
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002644	Premature Aging		ISO	RGD:10246	D	RGD:9068941	20200609	RGD			PMID:12533509|REF_RGD_ID:10059406
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:10090881|PMID:10196379|PMID:10227398|PMID:10441573|PMID:10447273|PMID:10464624|PMID:10486320|PMID:10502781|PMID:10528853|PMID:10615237|PMID:10644434|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10885601|PMID:11030418|PMID:11102986|PMID:11157798|PMID:11179017|PMID:11251181|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11391658|PMID:11410501|PMID:11462242|PMID:11466700|PMID:11504767|PMID:11597388|PMID:11606101|PMID:11710890|PMID:11739404|PMID:11802209|PMID:11844822|PMID:11896095|PMID:11920621|PMID:11938448|PMID:12097257|PMID:12112655|PMID:12125210|PMID:12181777|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12491499|PMID:12505256|PMID:12566964|PMID:12601471|PMID:12655560|PMID:12672316|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12938098|PMID:12955716|PMID:14534301|PMID:14576434|PMID:14647443|PMID:14760071|PMID:14986830|PMID:15024741|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15290653|PMID:15365993|PMID:15383404|PMID:15569676|PMID:15712267|PMID:15865297|PMID:15876480|PMID:15951956|PMID:15951958|PMID:15994883|PMID:16030426|PMID:16168118|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16489001|PMID:16528604|PMID:16541315|PMID:16615107|PMID:16644204|PMID:16683254|PMID:16777318|PMID:16847550|PMID:16998791|PMID:17148771|PMID:17221156|PMID:17307836|PMID:17308087|PMID:17576681|PMID:17591843|PMID:17688236|PMID:18036263|PMID:18159056|PMID:18228134|PMID:18413725|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18763032|PMID:18783588|PMID:18824701|PMID:18940477|PMID:18980973|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19359128|PMID:19370767|PMID:19563646|PMID:19594371|PMID:19770520|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20051372|PMID:20103620|PMID:20104584|PMID:20180014|PMID:20189727|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20950396|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21232165|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21702907|PMID:21709188|PMID:21729660|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21946536|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22430266|PMID:22434525|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22666503|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22889855|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23199084|PMID:23232912|PMID:23239986|PMID:23289006|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23683081|PMID:23697973|PMID:23704984|PMID:23747895|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24131973|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24504028|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24737347|PMID:24827135|PMID:24884479|PMID:24916970|PMID:25036526|PMID:25066507|PMID:25085752|PMID:25186627|PMID:25330149|PMID:25400221|PMID:25452441|PMID:25476495|PMID:25525159|PMID:25637381|PMID:25682074|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25880076|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26028024|PMID:26083025|PMID:26187060|PMID:26219728|PMID:26287763|PMID:26295337|PMID:26350514|PMID:26440929|PMID:26467025|PMID:26541979|PMID:26556299|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26845104|PMID:26852130|PMID:27062684|PMID:27067391|PMID:27153395|PMID:27157322|PMID:27167707|PMID:27257965|PMID:27272900
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69132	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:27425403|PMID:27433846|PMID:27463008|PMID:27495310|PMID:27535533|PMID:27553291|PMID:27741520|PMID:27831900|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28049106|PMID:28050010|PMID:28091860|PMID:28111427|PMID:28123851|PMID:28145423|PMID:28176296|PMID:28184945|PMID:28194609|PMID:28283652|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28715532|PMID:28724667|PMID:28740454|PMID:28781887|PMID:28831036|PMID:28993434|PMID:29021639|PMID:29053726|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29550896|PMID:29625052|PMID:29752822|PMID:29790872|PMID:29797126|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30067863|PMID:30078507|PMID:30113427|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30209399|PMID:30257646|PMID:30257991|PMID:30287823|PMID:30322717|PMID:30333958|PMID:30458859|PMID:30489631|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30765603|PMID:30875412|PMID:30962250|PMID:30979843|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31159747|PMID:31263571|PMID:31336956|PMID:31347298|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31411802|PMID:31447099|PMID:31454914|PMID:31528241|PMID:31825140|PMID:31851867|PMID:32039725|PMID:32058061|PMID:32123317|PMID:32125938|PMID:32231684|PMID:32295079|PMID:32338768|PMID:32341426|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32778078|PMID:32832836|PMID:32854451|PMID:32885271|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33309985|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:8531967|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8644702|PMID:8644703|PMID:8807330|PMID:8833256|PMID:8841191|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150153|PMID:9150154|PMID:9333265|PMID:9525870|PMID:9536098|PMID:9634504|PMID:9663595|PMID:9667259|PMID:9760198|PMID:9805131|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian Neoplasms | ClinVar Annotator: match by term: Ovarian neoplasm	PMID:11102986|PMID:11802209|PMID:12393792|PMID:12698193|PMID:14760071|PMID:16267036|PMID:16528604|PMID:16683254|PMID:18627636|PMID:19563646|PMID:20104584|PMID:21147080|PMID:21348412|PMID:21523855|PMID:21702907|PMID:21735045|PMID:22762150|PMID:23110154|PMID:23164213|PMID:23239986|PMID:23479189|PMID:24033266|PMID:24285858|PMID:24667779|PMID:25741868|PMID:25863477|PMID:25971625|PMID:26467025|PMID:27836010|PMID:28324225|PMID:28492532|PMID:28528518|PMID:28888541|PMID:28993434|PMID:29053726|PMID:29348823|PMID:29360161|PMID:29446198|PMID:29470806|PMID:30702160|PMID:30787465|PMID:30979843|PMID:31131967|PMID:31159747|PMID:31911673|PMID:33087888|PMID:33273034|PMID:33471991|PMID:37563628|PMID:38922859|PMID:9760198|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:21520333|PMID:25741868|PMID:26467025|PMID:28364669|PMID:28492532|PMID:29168416|PMID:29446198|PMID:30159786|PMID:30257646|PMID:30415210|PMID:31911673|PMID:33471991|PMID:37664050
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15894690
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2218	D	RGD:9068941	20200609	RGD			PMID:12203372|REF_RGD_ID:1599502
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12203372|PMID:22767648
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69132	D	RGD:9068941	20200609	RGD			PMID:17505536|REF_RGD_ID:2293155
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9005233	Experimental Mammary Neoplasms	susceptibility	ISO	RGD:10246	D	RGD:9068941	20200609	RGD			PMID:18443292|REF_RGD_ID:2293149
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triple-negative breast cancer | ClinVar Annotator: match by term: triple negative breast cancer	PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139|PMID:24094589
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31959133|PMID:32008151|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32719484|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32856854|PMID:32866190|PMID:32885271|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33309985|PMID:33413596|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33630411|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16172191|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20437199|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21461827|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24082139
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556971|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27495310|PMID:27498913|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28604461|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31911673|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:32008151|PMID:32025337|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32571788|PMID:32599251|PMID:32709856|PMID:32719484|PMID:32733560|PMID:32772980|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32846166|PMID:32854451|PMID:32856854|PMID:32866190|PMID:32885271|PMID:32980694|PMID:33010199|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33273034|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33720054|PMID:33850299|PMID:33875564|PMID:33875706|PMID:33948387|PMID:34063308|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34301763|PMID:34413315|PMID:34453642|PMID:34749799|PMID:34981296|PMID:35053526|PMID:35300142|PMID:35535697|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9667663|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:2152033|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30192042|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32050665|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34063308|PMID:34072659|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35281878
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35300142|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8460646|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25786579|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21270786|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21716271|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23698643|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26745875|PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27981572|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35681111|PMID:35875314|PMID:35980532|PMID:36385762|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11941481|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15063971|PMID:15066328
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18414213|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27535533|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35186721|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35980532|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127508|PMID:35186721|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36385762|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35402282|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35734583|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36922883|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26757417|PMID:26761715|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31642931|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32623769|PMID:32658311|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32862574|PMID:32866190|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33309985|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654645|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34687117|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35263119|PMID:35264596|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35535697|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35875314|PMID:35918668|PMID:35980532|PMID:36011273|PMID:36171434|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36833189|PMID:36922883|PMID:36964191|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10359546|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25281711|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33278427|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33654310|PMID:33654645|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33850299|PMID:33850850|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34271787|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657373|PMID:34663891|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35053526|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35908255|PMID:35918668|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36171434|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37280479|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19941167|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27352967|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27831900|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28678739|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28740454|PMID:28767289|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29346284|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31528241
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31992191|PMID:32008151|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32356124|PMID:32371905|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32516569|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35171259|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35290602|PMID:35300142|PMID:35377489|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35659930|PMID:35665744|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36627197|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36922883|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37280479|PMID:37335020|PMID:591403|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10441573|PMID:10447273|PMID:10453741|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10612800|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11039575|PMID:11044354|PMID:11044644|PMID:11044645|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11431698|PMID:11433401|PMID:11436123|PMID:11437933|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11506493|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11695708|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11781691|PMID:11793480|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11897832|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161607|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:145597|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:14684619|PMID:14684699|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14757871|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15060014|PMID:15063971|PMID:15066328|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15591272|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15781624|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16084575|PMID:16101277|PMID:16103107|PMID:16140926|PMID:16161633|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17026620|PMID:17039264|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17216544|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17531442|PMID:17545591|PMID:17550235|PMID:17557253|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18546071|PMID:18559594|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795|PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19826428|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:202008|PMID:20206335|PMID:20210032|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20815029|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21895635|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22426013|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22848303|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22921312|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096105|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992|PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:236858|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24218521|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24631698|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24695549|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24824628|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24832651|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25230021|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25683334|PMID:25701377|PMID:25716084|PMID:25717368|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25885115|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25925381|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25945394|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26003801|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26075997|PMID:26083025
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:2668991|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27135926|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27197267|PMID:27208206|PMID:27211102|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27286788|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27527004|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:275598|PMID:27566247|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997688|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28588830|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28900739
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29093764|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29309945|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30039884|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30713775|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30927251|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30979843|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31143373|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31464824|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31468469|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31645765|PMID:31683985|PMID:31706072|PMID:31742824|PMID:31745186|PMID:31753525|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32895300|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33008098|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33084842|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33403015|PMID:33408741|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33442023|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33612442|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33654645|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34396183|PMID:34403063|PMID:34404389|PMID:34413315
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34570441|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34646395|PMID:34657357|PMID:34657373|PMID:34658299|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36011273|PMID:36119527|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36200007|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36385461|PMID:36385762|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36605468|PMID:36612302|PMID:36620844|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36969051|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37060015|PMID:37085799|PMID:37149903|PMID:37168384|PMID:37182128|PMID:37277882|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37731153|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37958491|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38512353|PMID:38520597|PMID:38538877|PMID:38566028|PMID:38641594|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38874686|PMID:38922859|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:591403|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:734551|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7606717|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8644752|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8880569|PMID:8933332|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9192828|PMID:9197534|PMID:9228952|PMID:9274454|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10227398|PMID:10323242|PMID:10326698|PMID:10340909|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10441573|PMID:10447273|PMID:10459348|PMID:10464601|PMID:10464609|PMID:10464624|PMID:10464631|PMID:10469836|PMID:10479726|PMID:10480351|PMID:10486320|PMID:10498392|PMID:10502781|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10550055|PMID:10571952|PMID:10595255|PMID:10595257|PMID:10615237|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10682686|PMID:10686936|PMID:10699917|PMID:10717622|PMID:10728699|PMID:10728701|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10815905|PMID:10851077|PMID:10866028|PMID:10866029|PMID:10874312|PMID:10880552|PMID:10882857|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:10952777|PMID:10984458|PMID:11013445|PMID:11015464|PMID:11030417|PMID:11030418|PMID:11044354|PMID:11044644|PMID:11058900|PMID:11059339|PMID:11084537|PMID:11102977|PMID:11102978|PMID:11102986|PMID:11106241|PMID:11109172|PMID:11118466|PMID:11137998|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11240689|PMID:11250694|PMID:11251181|PMID:11256609|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11301010|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11336395|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11428389|PMID:11433401|PMID:11448907|PMID:11462239|PMID:11462242|PMID:11466700|PMID:11493753|PMID:11504767|PMID:11526114|PMID:11556835|PMID:11573085|PMID:11573086|PMID:11576847|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11710835|PMID:11710890|PMID:11720839|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773071|PMID:11773283|PMID:11781691|PMID:11802208|PMID:11802209|PMID:11810084|PMID:11844822|PMID:11857748|PMID:11877378|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11925436|PMID:11927492|PMID:11929857|PMID:11933205|PMID:11938448|PMID:11949836|PMID:11956590|PMID:11972384|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12019214|PMID:12034536|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12080089|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12183412|PMID:12188064|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12385650|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12427538|PMID:12427738|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12442275|PMID:12453858|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655515|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12774043|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12928470|PMID:12937835|PMID:12938098|PMID:12947551|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12955722|PMID:12960223|PMID:14507240|PMID:14513821|PMID:14517958|PMID:14522380|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14647443|PMID:14648706|PMID:14672397|PMID:14684619|PMID:14689060|PMID:14722926|PMID:14729053|PMID:14732925|PMID:1474686|PMID:14746861|PMID:14760071|PMID:14871810|PMID:14973102|PMID:14985394|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15039599|PMID:15059511|PMID:15066328
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15217508|PMID:15235020|PMID:15254424|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15345110|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15447980|PMID:15477862|PMID:15515971|PMID:15533909|PMID:15569676|PMID:15571721|PMID:15571962|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15674350|PMID:15689452|PMID:15712267|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744030|PMID:15744044|PMID:15800311|PMID:15800894|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15889636|PMID:1589246|PMID:15918047|PMID:15923272|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16047344|PMID:16101277|PMID:16140926|PMID:16161633|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16244786|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16397213|PMID:16400609|PMID:16403807|PMID:16417652|PMID:16452482|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16544996|PMID:16551709|PMID:16615107|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16677609|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16774946|PMID:16777318|PMID:16782705|PMID:16786532|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17039264|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17161371|PMID:17221156|PMID:17233897|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17351952|PMID:17369502|PMID:17403394|PMID:17445839|PMID:17453335|PMID:17493881|PMID:17545591|PMID:17550235|PMID:17574839|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17645508|PMID:17661172|PMID:17680524|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17724471|PMID:17761984|PMID:17826769|PMID:17851763|PMID:17902052|PMID:17913829|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17972177|PMID:17987791|PMID:17990260|PMID:17990525|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18042939|PMID:18060494|PMID:18066063|PMID:18071904|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18182601|PMID:18215206|PMID:18228134|PMID:18243530|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18285836|PMID:18286383|PMID:18311584|PMID:18312450|PMID:18330910|PMID:18334730|PMID:18340530|PMID:18375895|PMID:18391021|PMID:18403564|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18704682|PMID:18712473|PMID:18752448|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18940477|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19088202|PMID:19123044|PMID:19147582|PMID:19190334|PMID:19200354|PMID:19208665|PMID:19215791|PMID:19241424|PMID:19267246|PMID:19276368|PMID:19287957|PMID:19298662|PMID:19329713|PMID:19338681|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19369211|PMID:19370767|PMID:19377795
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19404736|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19499547|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19616529|PMID:19619314|PMID:19629655|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19804755|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19892845|PMID:19912264|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20016594|PMID:20020529|PMID:20029420|PMID:20033483|PMID:20043088|PMID:20051372|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20127978|PMID:20151938|PMID:20159462|PMID:20160719|PMID:20167696|PMID:20177395|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20206335|PMID:20215423|PMID:20215541|PMID:20232141|PMID:20234365|PMID:20301425|PMID:20305393|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20437199|PMID:20451485|PMID:20455026|PMID:20507347|PMID:20513136|PMID:20516115|PMID:20522429|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20579331|PMID:20609467|PMID:20614009|PMID:20614180|PMID:20638108|PMID:20665887|PMID:20668451|PMID:20681793|PMID:20683152|PMID:20694749|PMID:20700108|PMID:20727220|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20875879|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:2118378|PMID:21190077|PMID:21203900|PMID:21204799|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324156|PMID:21324516|PMID:213324516|PMID:2134516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21372787|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21465171|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21532809|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21603858|PMID:21614564|PMID:21638052|PMID:21643751|PMID:21666281|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21712546|PMID:21720365|PMID:21725363|PMID:21729660|PMID:2173504|PMID:21735045|PMID:21751003|PMID:21765009|PMID:21769658|PMID:21834074|PMID:21863257|PMID:21883705|PMID:21901007|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993501|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22034435|PMID:22044689|PMID:2206311|PMID:22072316|PMID:22085629|PMID:22113256|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22262852|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22368299|PMID:22382806|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22438049|PMID:22460208|PMID:22461402|PMID:2246425|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22527099|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22646717|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22753153|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22817731|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22864640|PMID:22874498|PMID:22875147|PMID:22889855|PMID:22921157|PMID:22923021|PMID:22927308|PMID:22970155|PMID:22984553|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23181653|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23210696|PMID:23211700|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23249957|PMID:23265383|PMID:23269703|PMID:23278966|PMID:23289006|PMID:23317271|PMID:23318652|PMID:23320992
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:23341105|PMID:23348723|PMID:23364291|PMID:23374397|PMID:23393598|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23569533|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23884293|PMID:23884708|PMID:23885733|PMID:23893897|PMID:23929434|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24052750|PMID:24055113|PMID:24065114|PMID:24065545|PMID:24082139|PMID:24094589|PMID:24104880|PMID:24131973|PMID:24137399|PMID:24156927|PMID:24212087|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24289923|PMID:24297685|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24326041|PMID:24333842|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24411079|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24629067|PMID:24633894|PMID:24660075|PMID:24667779|PMID:24670361|PMID:24675476|PMID:24695549|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24832651|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24884828|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25056273|PMID:25056543|PMID:25066507|PMID:25067956|PMID:25070656|PMID:25072261|PMID:25085752|PMID:25085762|PMID:25103822|PMID:25136594|PMID:25141179|PMID:25151137|PMID:25159151|PMID:2516115|PMID:25186627|PMID:25203624|PMID:25225064|PMID:25236687|PMID:25248401|PMID:25256238|PMID:25256924|PMID:25281711|PMID:25318351|PMID:25323003|PMID:25330149|PMID:25337278|PMID:25344691|PMID:25348012|PMID:25352972|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25503501|PMID:25503966|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25569433|PMID:25628955|PMID:25633036|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25701377|PMID:25716084|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25741869|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25834617|PMID:25849179|PMID:25850536|PMID:25859162|PMID:25863477|PMID:25880076|PMID:25884701|PMID:25893891|PMID:25896959|PMID:25920394|PMID:25923920|PMID:25927356|PMID:25939603|PMID:25940717|PMID:25948282|PMID:25960936|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26022348|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26046366|PMID:26052229|PMID:26052455|PMID:26057125|PMID:26071757|PMID:26083025|PMID:26092435|PMID:26094954|PMID:26109977|PMID:26153499|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26247049|PMID:26250392|PMID:26283626|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26404129|PMID:26430151|PMID:26439132|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26535628|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26659639|PMID:26666763|PMID:26681312|PMID:26681682|PMID:26687385|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26740214|PMID:26745875|PMID:26757417|PMID:26761715|PMID:26764160|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26787237|PMID:26822237
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26898890|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26933808|PMID:26941049|PMID:26951538|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27125725|PMID:27148484|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27165220|PMID:27167672|PMID:27167707|PMID:27194814|PMID:27208206|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27273131|PMID:27297669|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27443514|PMID:27446417|PMID:27449771|PMID:27456091|PMID:27463008|PMID:27466509|PMID:27469594|PMID:27478808|PMID:27484786|PMID:27488874|PMID:27489289|PMID:27495310|PMID:27498913|PMID:27509926|PMID:27531819|PMID:27533253|PMID:27533489|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27656653|PMID:27658390|PMID:27666373|PMID:27683183|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27742776|PMID:27756336|PMID:27760322|PMID:27760710|PMID:27767231|PMID:27768182|PMID:27798748|PMID:27802165|PMID:27818992|PMID:27822389|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27848044|PMID:27854218|PMID:27878467|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27926510|PMID:27930734|PMID:27974384|PMID:27978560|PMID:27983536|PMID:27989354|PMID:27997699|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28051074|PMID:28051113|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28184945|PMID:28194609|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28408614|PMID:28414925|PMID:28422718|PMID:28423363|PMID:28439188|PMID:28440963|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28503720|PMID:28508593|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28591191|PMID:28637432|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28691938|PMID:28692638|PMID:28715532|PMID:28717669|PMID:28724667|PMID:28726806|PMID:28726808|PMID:28727877|PMID:28740454|PMID:28767289|PMID:28781187|PMID:28781887|PMID:28782058|PMID:28802053|PMID:28807866|PMID:28828701|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28900739|PMID:28905878|PMID:28918466|PMID:28944232|PMID:28947987|PMID:28959512|PMID:28961279|PMID:28970858|PMID:28975465|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29088781|PMID:29113215|PMID:29116469|PMID:29133208|PMID:29137355|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29371908|PMID:29409476|PMID:29416040|PMID:29422015|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29440709|PMID:29446198|PMID:29452958|PMID:29453630|PMID:29458332|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29483665|PMID:29484706|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29580235|PMID:29614442|PMID:29622700|PMID:29625052|PMID:29641532|PMID:29667044|PMID:29673794|PMID:29681614
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:29684080|PMID:29687286|PMID:29712865|PMID:29731985|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29755871|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29854283|PMID:29868112|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936257|PMID:29936259|PMID:29937436|PMID:29940740|PMID:29945567|PMID:29961768|PMID:29963112|PMID:29975922|PMID:29997359|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30040829|PMID:30055521|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30154229|PMID:30159786|PMID:30175445|PMID:30181556|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30203341|PMID:30204945|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30219179|PMID:30225334|PMID:30247247|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30291343|PMID:30306255|PMID:30309222|PMID:30315757|PMID:30322717|PMID:30325992|PMID:30333958|PMID:30339520|PMID:30340058|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30425037|PMID:30430080|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30474649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30542053|PMID:30545397|PMID:30548481|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30584090|PMID:30584990|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30617304|PMID:30623411|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30651582|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30696104|PMID:30702160|PMID:30715675|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30730459|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30827823|PMID:30832263|PMID:30840646|PMID:30850667|PMID:30875412|PMID:30883245|PMID:30940100|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:30992324|PMID:31013702|PMID:31065452|PMID:31076742|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31124283|PMID:31125277|PMID:31131953|PMID:31131967|PMID:31141992|PMID:31143303|PMID:31144781|PMID:31159747|PMID:31161121|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31265121|PMID:31270457|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31341521|PMID:31341951|PMID:31343793|PMID:31347298|PMID:31350202|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31415627|PMID:31422574|PMID:31432501|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31456542|PMID:31465090|PMID:31467430|PMID:31467961|PMID:31472684|PMID:31476386|PMID:31477031|PMID:31481248|PMID:31483290|PMID:31484976|PMID:31488070|PMID:31492746|PMID:31514334|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31706072|PMID:31742824|PMID:31745186|PMID:3175448|PMID:31759379|PMID:31771539|PMID:31780705|PMID:31785789|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31867841|PMID:31869745|PMID:31871109|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31917386|PMID:31921681|PMID:31924417|PMID:31937788|PMID:31954625|PMID:31957001|PMID:31958182|PMID:31959133|PMID:31980407|PMID:31992191|PMID:32008151|PMID:32009791|PMID:32019277|PMID:32019279|PMID:32019284|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32050665|PMID:32058061|PMID:32059136|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32090079|PMID:32091409|PMID:32092317|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32164585|PMID:32195105|PMID:32199636|PMID:32203205
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32211327|PMID:32231684|PMID:32234730|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32356124|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32410793|PMID:32420470|PMID:32426482|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32451972|PMID:32455662|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32516569|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32552130|PMID:32554602|PMID:32566972|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32709856|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32745242|PMID:32761968|PMID:32772980|PMID:32776218|PMID:32778078|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32812259|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32846166|PMID:32850417|PMID:32854451|PMID:32856854|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32866190|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32906206|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33047316|PMID:33054725|PMID:33067490|PMID:33067557|PMID:33078592|PMID:33083013|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33106425|PMID:33113089|PMID:33151324|PMID:33206196|PMID:33206719|PMID:33230308|PMID:33233347|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33274848|PMID:33278427|PMID:33285109|PMID:33287145|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33408741|PMID:33413596|PMID:33428613|PMID:33432171|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606355|PMID:33606809|PMID:33610559|PMID:33629534|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33654310|PMID:33670479|PMID:33674644|PMID:33691754|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33804961|PMID:33850299|PMID:33850850|PMID:33858678|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:33948387|PMID:34011307|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34083286|PMID:34120093|PMID:34130653|PMID:34178674|PMID:34196900|PMID:34204722|PMID:34218100|PMID:34232950|PMID:34235180|PMID:34242281|PMID:34254208|PMID:34271787|PMID:34284872|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34308104|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34453642|PMID:34490083|PMID:34503154|PMID:34529195|PMID:34572941|PMID:34597585|PMID:34637943|PMID:34645131|PMID:34657357|PMID:34657373|PMID:34663891|PMID:34680387|PMID:34680878|PMID:34687117|PMID:34697415|PMID:34717758|PMID:34749799|PMID:34793697|PMID:34823292|PMID:34855882|PMID:34887416|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35039532|PMID:35039564|PMID:35053526|PMID:35070997|PMID:35087763|PMID:35116780|PMID:35127312|PMID:35127315|PMID:35150867|PMID:35165121|PMID:35167739|PMID:3517125|PMID:35171259|PMID:35173486|PMID:35177575|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35205643|PMID:35216584|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35273153|PMID:35281878|PMID:35288574|PMID:35290602|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35384527|PMID:35402282|PMID:35409408|PMID:35409996|PMID:35420638|PMID:35438911|PMID:35449021|PMID:35451682|PMID:35456503|PMID:35464868|PMID:35477782|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35626017|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35666082|PMID:35671604|PMID:35681111|PMID:35698740|PMID:35710434|PMID:35712480|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35754315|PMID:35778884|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35886069|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35988656|PMID:36003761|PMID:36008414|PMID:36119527|PMID:36149077|PMID:36169650|PMID:36171434
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:36171877|PMID:36243179|PMID:36292577|PMID:36315513|PMID:36329109|PMID:36367610|PMID:36446827|PMID:36451132|PMID:36463295|PMID:36531003|PMID:36537080|PMID:36579549|PMID:36605468|PMID:36612041|PMID:36612302|PMID:36627197|PMID:36644153|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36833189|PMID:36833268|PMID:36881271|PMID:36900375|PMID:36922883|PMID:36922933|PMID:36926989|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36977404|PMID:36988593|PMID:37085799|PMID:37121054|PMID:37149903|PMID:37168384|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37563628|PMID:37656691|PMID:37664050|PMID:37718511|PMID:37719058|PMID:37731132|PMID:37733863|PMID:37851290|PMID:37917606|PMID:37958189|PMID:37970354|PMID:38110397|PMID:38136308|PMID:38146508|PMID:38153744|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38298632|PMID:38355628|PMID:38386807|PMID:38398132|PMID:38409497|PMID:38439815|PMID:38566028|PMID:38640836|PMID:38641594|PMID:38645101|PMID:38709234|PMID:38785139|PMID:38785549|PMID:38814507|PMID:38922859|PMID:39041507|PMID:39142283|PMID:39256447|PMID:39271294|PMID:39402389|PMID:39488595|PMID:39541563|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7611277|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7791869|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:793963|PMID:7939630|PMID:824983|PMID:8460636|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8622478|PMID:8644702|PMID:8644703|PMID:8651293|PMID:8723683|PMID:8755943|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8875986|PMID:8880569|PMID:8942979|PMID:8944023|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9150171|PMID:9150174|PMID:9159158|PMID:9167459|PMID:9228952|PMID:9326340|PMID:9333265|PMID:9354803|PMID:9361038|PMID:9362443|PMID:9369211|PMID:9391879|PMID:9406579|PMID:9429140|PMID:9440731|PMID:9452076|PMID:9452084|PMID:9482581|PMID:9497265|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9528852|PMID:953609|PMID:9536098|PMID:9544765|PMID:9544766|PMID:9563465|PMID:9585599|PMID:9585608|PMID:9585617|PMID:9609997|PMID:9616287|PMID:9625424|PMID:9634504|PMID:9643283|PMID:9649133|PMID:9663595|PMID:9664122|PMID:9667259|PMID:9667663|PMID:9677103|PMID:9699523|PMID:9699640|PMID:9715372|PMID:9738006|PMID:9746028|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9816013|PMID:9836072|PMID:9836472|PMID:9840533
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10090881|PMID:10188893|PMID:10196379|PMID:10200350|PMID:10326698|PMID:10359546|PMID:10371344|PMID:10389907|PMID:10406662|PMID:10408690|PMID:10447273|PMID:10459348|PMID:10464624|PMID:10464631|PMID:10479726|PMID:10486320|PMID:10498392|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595257|PMID:10612800|PMID:10634513|PMID:10635334|PMID:10644434|PMID:10660329|PMID:10686936|PMID:10699917|PMID:10728699|PMID:10728701|PMID:10739756|PMID:10788334|PMID:10790221|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10946236|PMID:10951344|PMID:10952774|PMID:11030417|PMID:11044645|PMID:11084537|PMID:11102978|PMID:11102986|PMID:11109172|PMID:11114888|PMID:11118466|PMID:11157798|PMID:11179017|PMID:11183185|PMID:11199332|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11359908|PMID:11389159|PMID:11410501|PMID:11431698|PMID:11466700|PMID:11493753|PMID:11526114|PMID:11573085|PMID:11573086|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11710890|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11748848|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11925436|PMID:11927492|PMID:11938448|PMID:11956590|PMID:11972384|PMID:12014998|PMID:12019214|PMID:12037674|PMID:12080089|PMID:12097257|PMID:12112655|PMID:12112659|PMID:12124814|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12203997|PMID:12354934|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442265|PMID:12442273|PMID:12442274|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12774040|PMID:12810666|PMID:12815598|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872252|PMID:12872263|PMID:12872265|PMID:12879478|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12955082|PMID:12955716|PMID:12955719|PMID:12960223|PMID:14513821|PMID:14531499|PMID:14534301|PMID:14569140|PMID:14574011|PMID:14574155|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14614327|PMID:14648706|PMID:14672397|PMID:14722926|PMID:14729053|PMID:14732925|PMID:14746861|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15039599|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15217508|PMID:15235020|PMID:15340362|PMID:15350310|PMID:15365993|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15533909|PMID:15609993|PMID:15617999|PMID:15642173|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15733268|PMID:15735322|PMID:15744044|PMID:15800311|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15937982|PMID:15944772|PMID:15951956|PMID:15951957|PMID:15951958|PMID:15955690|PMID:15983021|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16234499|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16403807|PMID:16455195|PMID:16456781|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16528612|PMID:16541315|PMID:16615107|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16758124|PMID:16764716|PMID:16777318|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17026620|PMID:17039264|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17369502|PMID:17445839|PMID:17453335|PMID:17531442|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17661172|PMID:17680524|PMID:17688236|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17997147|PMID:18006916|PMID:18042939
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:18060494|PMID:18092194|PMID:18159056|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18284688|PMID:18286383|PMID:18334730|PMID:18375895|PMID:18418466|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18627636|PMID:18645608|PMID:18679828|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18752448|PMID:18762988|PMID:18779604|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18940477|PMID:18951440|PMID:18951449|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19370767|PMID:19452558|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19553641|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19683496|PMID:19706752|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19892845|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20033483|PMID:20103620|PMID:20104584|PMID:20127978|PMID:20159462|PMID:20167696|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20507347|PMID:20516115|PMID:20567915|PMID:20569256|PMID:20638108|PMID:20665887|PMID:20694749|PMID:20700108|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20960228|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21204799|PMID:21218378|PMID:21232165|PMID:21233401|PMID:21281505|PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21593597|PMID:21614564|PMID:21621601|PMID:21638052|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21712546|PMID:21725363|PMID:21729660|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21810505|PMID:21834074|PMID:21883705|PMID:21901790|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22362584|PMID:22366370|PMID:22399190|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22461402|PMID:22469508|PMID:22476429|PMID:22486351|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22615956|PMID:22655046|PMID:22666503|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22722201|PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22797009|PMID:22798144|PMID:22843421|PMID:22855649|PMID:22856468|PMID:22875147|PMID:22921157|PMID:22923021|PMID:22970155|PMID:23034506|PMID:23096355|PMID:23110154|PMID:23161852|PMID:23175448|PMID:23186163|PMID:23192404|PMID:23199084|PMID:23211700|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23242139|PMID:23269703|PMID:23289006|PMID:23318652|PMID:23320992|PMID:23348723|PMID:23397983|PMID:23451180|PMID:23458327|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23749302|PMID:23767878|PMID:23772696|PMID:23842040|PMID:23867111|PMID:23885733|PMID:23893897|PMID:23940062|PMID:23942203|PMID:23954390|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24013928|PMID:24033266|PMID:24055113|PMID:24094589|PMID:24131973|PMID:24212087|PMID:24234437|PMID:24240112|PMID:24244370|PMID:24249303|PMID:24297685|PMID:24312913|PMID:24319668|PMID:24321281|PMID:24372583|PMID:24393486|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24578176|PMID:24607278|PMID:24629067|PMID:24631698|PMID:24667779|PMID:24670361|PMID:24728189
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:24728327|PMID:24729269|PMID:24737347|PMID:24772314|PMID:24784157|PMID:24797986|PMID:24825132|PMID:24830819|PMID:24832651|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25056543|PMID:25066507|PMID:25070656|PMID:25085752|PMID:25136594|PMID:25141179|PMID:25159151|PMID:25186627|PMID:25230021|PMID:25236687|PMID:25281711|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25366075|PMID:25366421|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25476495|PMID:25479140|PMID:25480878|PMID:25525159|PMID:25556339|PMID:25556971|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25850536|PMID:25863477|PMID:25884701|PMID:25885115|PMID:25896959|PMID:25920394|PMID:25940717|PMID:25948282|PMID:25980754|PMID:26014432|PMID:26023681|PMID:26026974|PMID:26046366|PMID:26052455|PMID:26092435|PMID:26094954|PMID:26153499|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26344711|PMID:26350514|PMID:26402875|PMID:26440929|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26534844|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26727311|PMID:26740214|PMID:26757417|PMID:26778126|PMID:26780556|PMID:26787237|PMID:26822949|PMID:26824983|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26915939|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27083178|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27225819|PMID:27251275|PMID:27257965|PMID:27272900|PMID:27328445|PMID:27331142|PMID:27375968|PMID:27376475|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27446417|PMID:27449771|PMID:27469594|PMID:27553291|PMID:27553368|PMID:27616075|PMID:27666373|PMID:27697421|PMID:27720647|PMID:27741520|PMID:27760710|PMID:27767231|PMID:27802165|PMID:27836010|PMID:27843123|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27914478|PMID:27983536|PMID:27989354|PMID:28049106|PMID:28087643|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28127413|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28195393|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28231738|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28351343|PMID:28364669|PMID:28390335|PMID:28392550|PMID:28398198|PMID:28423363|PMID:28452373|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28528518|PMID:28529006|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28740454|PMID:28781887|PMID:28802053|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28961279|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29053726|PMID:29061375|PMID:29086229|PMID:29116469|PMID:29133208|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29203703|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29255180|PMID:29261187|PMID:29263802|PMID:29271107|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29337092|PMID:29339979|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29433453|PMID:29435039|PMID:29435075|PMID:29446198|PMID:29467240|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29492181|PMID:29506128|PMID:29580235|PMID:29614442|PMID:29625052|PMID:29667044
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:29673794|PMID:29681614|PMID:29684080|PMID:29712865|PMID:29750258|PMID:2975282|PMID:29752822|PMID:29758562|PMID:29760936|PMID:29770616|PMID:29774201|PMID:29785135|PMID:29790872|PMID:29805665|PMID:29854283|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29905759|PMID:29907814|PMID:29922827|PMID:29936259|PMID:29945567|PMID:29961768|PMID:30014164|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30105462|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30214756|PMID:30219179|PMID:30254663|PMID:30257212|PMID:30257646|PMID:30257991|PMID:30263092|PMID:30264118|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30339520|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30441849|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30489631|PMID:30541756|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30676620|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736279|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30797618|PMID:30825404|PMID:30832263|PMID:30875412|PMID:30883245|PMID:30918126|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31086113|PMID:31090900|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31336956|PMID:31341520|PMID:31341521|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31411802|PMID:31422574|PMID:31447099|PMID:31454914|PMID:31465090|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31484976|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31694833|PMID:31705708|PMID:31706072|PMID:31742824|PMID:31745186|PMID:3175448|PMID:31759379|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31957001|PMID:31959133|PMID:31992191|PMID:32009791|PMID:32029870|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32152249|PMID:32199636|PMID:32203205|PMID:32211327|PMID:32255556|PMID:32257056|PMID:32284662|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32398771|PMID:32420470|PMID:32427313|PMID:32429029|PMID:32438681|PMID:32467295|PMID:32483276|PMID:32486089|PMID:32495382|PMID:32546644|PMID:32552130|PMID:32554602|PMID:32571788|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32776218|PMID:32803532|PMID:32806537|PMID:32817299|PMID:32824581|PMID:32832836|PMID:32843487|PMID:32850417|PMID:32854451|PMID:32856869|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33010199|PMID:33037428|PMID:33054725|PMID:33067490|PMID:33078592|PMID:33083013|PMID:33087888|PMID:33087929|PMID:33113089|PMID:33151324|PMID:33194720|PMID:33206196|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33285109|PMID:33302456|PMID:33309985|PMID:33314633|PMID:33428613|PMID:33449224|PMID:33461583|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33476590|PMID:33477375|PMID:33484353|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33563323|PMID:33573335|PMID:33606809|PMID:33610559|PMID:33646313|PMID:33649982|PMID:33724863|PMID:33758026|PMID:33773534|PMID:33801055|PMID:33850850|PMID:33875564|PMID:33881725|PMID:33888336|PMID:33948387|PMID:34026625|PMID:34045478
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:34063308|PMID:34072659|PMID:34083286|PMID:34130653|PMID:34157791|PMID:34178674|PMID:34196900|PMID:34235180|PMID:34254208|PMID:34271787|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34396183|PMID:34413315|PMID:34572941|PMID:34597585|PMID:34645131|PMID:34657373|PMID:34687117|PMID:34697415|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34917121|PMID:34981296|PMID:35020120|PMID:35023674|PMID:35070997|PMID:35116780|PMID:35127508|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35218119|PMID:35220195|PMID:35260053|PMID:35263119|PMID:35264596|PMID:35377489|PMID:35402282|PMID:35409996|PMID:35420638|PMID:35449021|PMID:35456503|PMID:35534113|PMID:35534704|PMID:35535697|PMID:35578052|PMID:35585550|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35698740|PMID:35712480|PMID:35729312|PMID:35731312|PMID:35734583|PMID:35753294|PMID:35864222|PMID:35902772|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36179682|PMID:36243179|PMID:36329109|PMID:36367610|PMID:36385461|PMID:36451132|PMID:36537080|PMID:36612041|PMID:36612302|PMID:36660366|PMID:36744932|PMID:36753473|PMID:36775657|PMID:36833189|PMID:36860287|PMID:36881271|PMID:36922883|PMID:36922933|PMID:36927983|PMID:36988593|PMID:36999648|PMID:37085799|PMID:37097611|PMID:37149903|PMID:37168384|PMID:37280479|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37460928|PMID:37523182|PMID:37664050|PMID:37718511|PMID:37731132|PMID:37731153|PMID:37733863|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37958189|PMID:38060977|PMID:38136308|PMID:38153744|PMID:38167124|PMID:38219492|PMID:38333895|PMID:38354330|PMID:38355628|PMID:38386807|PMID:38439815|PMID:38566028|PMID:38640836|PMID:38645101|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38785549|PMID:38895905|PMID:38922859|PMID:38974244|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39256447|PMID:39349509|PMID:39402389|PMID:39488595|PMID:39541563|PMID:39550490|PMID:40413188|PMID:40714512|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7221156|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7627958|PMID:7663517|PMID:7680524|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:824983|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8595420|PMID:8595428|PMID:8602198|PMID:8606385|PMID:8644703|PMID:8764110|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8875986|PMID:8880569|PMID:8968102|PMID:8972225|PMID:9010228|PMID:9042909|PMID:9143931|PMID:9145676|PMID:9145677|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9159158|PMID:9228952|PMID:9326340|PMID:9333265|PMID:9361038|PMID:9362443|PMID:9482581|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9649133|PMID:9667259|PMID:9667663|PMID:9699640|PMID:9746028|PMID:9760198|PMID:9792861|PMID:9796975|PMID:9808526
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10196379|PMID:10340909|PMID:10408690|PMID:10459348|PMID:10464631|PMID:10479726|PMID:10498392|PMID:10571952|PMID:10595257|PMID:10634513|PMID:10644434|PMID:10699917|PMID:10728699|PMID:10811118|PMID:10866029|PMID:10923033|PMID:10946236|PMID:11044645|PMID:11102986|PMID:11114888|PMID:11118466|PMID:11139249|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11183185|PMID:11199332|PMID:11320250|PMID:11359908|PMID:11389159|PMID:11400546|PMID:11431698|PMID:11504767|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11698567|PMID:11710835|PMID:11733976|PMID:11739404|PMID:11748848|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11897832|PMID:11920621|PMID:11927492|PMID:11956590|PMID:12014998|PMID:12048272|PMID:12070551|PMID:12080089|PMID:12181777|PMID:12203997|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12442274|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12601471|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12732733|PMID:12759930|PMID:12774040|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12879478|PMID:12890739|PMID:12915465|PMID:12938098|PMID:12955716|PMID:12960223|PMID:14513821|PMID:14531499|PMID:14534301|PMID:14576433|PMID:14614327|PMID:14648706|PMID:14722926|PMID:14732925|PMID:14760071|PMID:14973102|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146556|PMID:15168169|PMID:15172753|PMID:15172985|PMID:15235020|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15385441|PMID:15571721|PMID:15642173|PMID:15689452|PMID:15726418|PMID:15733268|PMID:15735322|PMID:15829246|PMID:15937982|PMID:15944772|PMID:15955690|PMID:15983021|PMID:16014699|PMID:16030099|PMID:16084575|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16267036|PMID:16284991|PMID:16287141|PMID:16403807|PMID:16455195|PMID:16489001|PMID:16518693|PMID:16528604|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16685647|PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16818684|PMID:16826315|PMID:16835750|PMID:16905680|PMID:16912212|PMID:16931905|PMID:16943438|PMID:16949048|PMID:16998791|PMID:17011978|PMID:17100994|PMID:17131039|PMID:17148771|PMID:17221156|PMID:17250666|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17308087|PMID:17319787|PMID:17445839|PMID:17453335|PMID:17531442|PMID:17574839|PMID:17576681|PMID:17591842|PMID:17591843|PMID:17624602|PMID:17661172|PMID:17688236|PMID:17719744|PMID:17826769|PMID:17851763|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17972171|PMID:17997147|PMID:18060494|PMID:18092194|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18259752|PMID:18273839|PMID:18279628|PMID:18284688|PMID:18286383|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18465347|PMID:18489799|PMID:18493658|PMID:18497862|PMID:18500671|PMID:18512148|PMID:18528753|PMID:18559594|PMID:18627636|PMID:18645608|PMID:18680205|PMID:18703817|PMID:18752448|PMID:18779604|PMID:18798010|PMID:18821011|PMID:1882470|PMID:18824701|PMID:18835712|PMID:18844490|PMID:18936166|PMID:18951440|PMID:18951446|PMID:18951449|PMID:18951461|PMID:18992264|PMID:19016756|PMID:19241424|PMID:19329713|PMID:19340607|PMID:19353265|PMID:19369211|PMID:19370767|PMID:19471317|PMID:19491284|PMID:19493677|PMID:19499246|PMID:19504351|PMID:19543972|PMID:19563646|PMID:19616529|PMID:19619314|PMID:19629752|PMID:19638463|PMID:19648928|PMID:19656164|PMID:19683496|PMID:19818148|PMID:19892845|PMID:19996028|PMID:20033483|PMID:20103620|PMID:20104584|PMID:20127978|PMID:20167696|PMID:20206335|PMID:20215541|PMID:20301425|PMID:20305393|PMID:20373018|PMID:20378548|PMID:20406929|PMID:20406939|PMID:20451485|PMID:20516115|PMID:20567915|PMID:20579331|PMID:20638108|PMID:20668451|PMID:20727672|PMID:20737206|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:21080930|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21203900|PMID:21218378|PMID:21232165
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21305653|PMID:21309043|PMID:21318380|PMID:21324516|PMID:21348412|PMID:21372787|PMID:21394826|PMID:21447777|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21673748|PMID:21702907|PMID:21725363|PMID:21735045|PMID:21765009|PMID:21769658|PMID:21883705|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22010008|PMID:22034289|PMID:22116506|PMID:22160602|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22382806|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22460208|PMID:22461402|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22615956|PMID:22655046|PMID:22682623|PMID:22684231|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22797009|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22855649|PMID:22921157|PMID:22923021|PMID:23034506|PMID:23096355|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23233716|PMID:23239986|PMID:23265383|PMID:23289006|PMID:23451180|PMID:23458327|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23569533|PMID:23593081|PMID:23613828|PMID:23633455|PMID:23683081|PMID:23697973|PMID:23704879|PMID:23767878|PMID:23867111|PMID:23893897|PMID:23929434|PMID:23961350|PMID:23982851|PMID:24010542|PMID:24033266|PMID:24065114|PMID:24094589|PMID:24131973|PMID:24244370|PMID:24249303|PMID:24285858|PMID:24312913|PMID:24321281|PMID:24356096|PMID:24372583|PMID:24393486|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24549055|PMID:24569164|PMID:24607278|PMID:24629067|PMID:24667779|PMID:24675476|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24832651|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25007954|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:2505045|PMID:25066507|PMID:25085752|PMID:25136594|PMID:25186627|PMID:25225064|PMID:25230021|PMID:25248401|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25415331|PMID:25418591|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25525159|PMID:25556971|PMID:25569433|PMID:25589003|PMID:25628955|PMID:25639900|PMID:25652403|PMID:25682074|PMID:25722345|PMID:25724305|PMID:25741868|PMID:25777348|PMID:25782689|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25885115|PMID:25896959|PMID:25920394|PMID:25925381|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26014432|PMID:26023681|PMID:26052455|PMID:26094954|PMID:26183948|PMID:26187060|PMID:26206375|PMID:26207792|PMID:26221963|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26300996|PMID:26306726|PMID:26317927|PMID:26332594|PMID:26334176|PMID:26344711|PMID:26350514|PMID:26381082|PMID:26402875|PMID:26452128|PMID:26467025|PMID:26479420|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26564481|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26757417|PMID:26778126|PMID:26822949|PMID:26824983|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26956035|PMID:26976419|PMID:26997744|PMID:27003155|PMID:27008870|PMID:27039803|PMID:27060149|PMID:27062684|PMID:27082205|PMID:27083178|PMID:27124784|PMID:27135926|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27328445|PMID:27331142|PMID:27376475|PMID:27425403|PMID:27433846|PMID:27466509|PMID:27469594|PMID:27495310|PMID:27533253|PMID:27553291|PMID:27553368|PMID:27600092|PMID:27616075|PMID:27658390|PMID:27741520|PMID:27767231|PMID:27802165|PMID:27836010|PMID:27843123|PMID:27844240|PMID:27882536|PMID:27886673|PMID:27907908|PMID:27974384|PMID:27997688|PMID:28111427|PMID:28122244|PMID:28135145|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28205045|PMID:28222693|PMID:28263838|PMID:28281021|PMID:28283652|PMID:28294317|PMID:28301456|PMID:28301460|PMID:28324225|PMID:28339459|PMID:28351343
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28364669|PMID:28390335|PMID:28398198|PMID:28408614|PMID:28423363|PMID:28439188|PMID:28477318|PMID:28492532|PMID:28525389|PMID:28526081|PMID:28528518|PMID:28541631|PMID:28569743|PMID:28588062|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28715532|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28857155|PMID:28873162|PMID:28888541|PMID:28905878|PMID:28961279|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29036293|PMID:29088781|PMID:29116469|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29203703|PMID:29215753|PMID:29236234|PMID:29240602|PMID:29254167|PMID:29255180|PMID:29263802|PMID:29280214|PMID:29310832|PMID:29335924|PMID:29337092|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29467240|PMID:29470806|PMID:29486991|PMID:29566657|PMID:29580235|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29774201|PMID:29785135|PMID:29805665|PMID:29884841|PMID:29905759|PMID:29907814|PMID:29937436|PMID:29975922|PMID:30014164|PMID:30040829|PMID:30078507|PMID:30093976|PMID:30103829|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30159786|PMID:30181556|PMID:30199306|PMID:30203341|PMID:30207098|PMID:30209399|PMID:30212499|PMID:30213835|PMID:30219179|PMID:30254663|PMID:30257212|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263092|PMID:30274973|PMID:30283497|PMID:30287823|PMID:30322717|PMID:30350268|PMID:30374176|PMID:30400234|PMID:30415210|PMID:30441849|PMID:30458859|PMID:30541756|PMID:30551077|PMID:30555256|PMID:30584090|PMID:30586678|PMID:30603682|PMID:30613976|PMID:30623411|PMID:30630526|PMID:30646163|PMID:30652428|PMID:30661751|PMID:30675319|PMID:30696104|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30883245|PMID:30918126|PMID:30940100|PMID:30968603|PMID:30972954|PMID:30982232|PMID:31112341|PMID:31112363|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31161121|PMID:31173646|PMID:31174498|PMID:31209238|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31265121|PMID:31294896|PMID:31300551|PMID:31336956|PMID:31337648|PMID:31341520|PMID:31343793|PMID:31360874|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31411802|PMID:31454914|PMID:31465090|PMID:31472684|PMID:31477031|PMID:31528241|PMID:31565484|PMID:31570899|PMID:31642931|PMID:31694833|PMID:31742824|PMID:31759379|PMID:31785789|PMID:31825140|PMID:31843900|PMID:31851867|PMID:31853058|PMID:31869745|PMID:31871109|PMID:31907386|PMID:31911673|PMID:31912679|PMID:31921681|PMID:31954625|PMID:31992191|PMID:32009791|PMID:32019277|PMID:32029870|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32125938|PMID:32133419|PMID:32203205|PMID:32211327|PMID:32255556|PMID:32257056|PMID:32269290|PMID:32295079|PMID:32318955|PMID:32341426|PMID:32375709|PMID:32377563|PMID:32398771|PMID:32420470|PMID:32427313|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32571788|PMID:32599251|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32720237|PMID:32772980|PMID:32776218|PMID:32803532|PMID:32817299|PMID:32832836|PMID:32850417|PMID:32856862|PMID:32868316|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32963034|PMID:32980694|PMID:32986223|PMID:33057194|PMID:33067490|PMID:33078592|PMID:33083013|PMID:33087888|PMID:33113089|PMID:33151324|PMID:33194720|PMID:33240314|PMID:33258288|PMID:33273034|PMID:33285109|PMID:33309985|PMID:33413596|PMID:33468216|PMID:33471991|PMID:33476590|PMID:33552952|PMID:33563323|PMID:33573335|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33649982|PMID:33801055|PMID:33850850|PMID:33875564|PMID:33881725|PMID:33948387|PMID:34026625|PMID:34045478|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34218100|PMID:34235180|PMID:34254208|PMID:34287479|PMID:34290354|PMID:34296289|PMID:34301763|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34449592|PMID:34570441|PMID:34572941
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34597585|PMID:34749799|PMID:34793697|PMID:34917121|PMID:34981296|PMID:35070997|PMID:35116780|PMID:35150867|PMID:35165121|PMID:35167739|PMID:35171259|PMID:35173486|PMID:35186721|PMID:35196514|PMID:35205313|PMID:35260053|PMID:35264596|PMID:35288574|PMID:35384527|PMID:35402282|PMID:35420638|PMID:35449021|PMID:35456503|PMID:35464868|PMID:35534704|PMID:35585550|PMID:35641994|PMID:35659930|PMID:35665744|PMID:35681111|PMID:35729312|PMID:35753294|PMID:35864222|PMID:35918668|PMID:35957908|PMID:35979650|PMID:35980532|PMID:35982159|PMID:36149077|PMID:36169650|PMID:36171434|PMID:36179682|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36385461|PMID:36451132|PMID:36605468|PMID:36612041|PMID:36627197|PMID:36660366|PMID:36775657|PMID:36833189|PMID:36860287|PMID:36881271|PMID:36922883|PMID:36922933|PMID:36964191|PMID:36977404|PMID:36988593|PMID:37085799|PMID:37168384|PMID:37335020|PMID:37415649|PMID:37523182|PMID:37563628|PMID:37664050|PMID:37718511|PMID:37731132|PMID:37731153|PMID:37917606|PMID:37937776|PMID:37951914|PMID:37958189|PMID:37958491|PMID:37970346|PMID:38136308|PMID:38160042|PMID:38219492|PMID:38271184|PMID:38354330|PMID:38355628|PMID:38439815|PMID:38645101|PMID:38652475|PMID:38709234|PMID:38781545|PMID:38785139|PMID:38895905|PMID:38922859|PMID:38974244|PMID:39041507|PMID:39048855|PMID:39096911|PMID:39142283|PMID:39272924|PMID:39281752|PMID:39349509|PMID:39402389|PMID:39541563|PMID:39550490|PMID:40413188|PMID:40714512|PMID:7221156|PMID:7493024|PMID:7611277|PMID:7837387|PMID:7894491|PMID:7894493|PMID:8531968|PMID:8595420|PMID:8602198|PMID:8723683|PMID:8764110|PMID:8808710|PMID:8875986|PMID:8880569|PMID:8968102|PMID:8972225|PMID:9010228|PMID:9150149|PMID:9150151|PMID:9150154|PMID:9228952|PMID:9254884|PMID:9333265|PMID:9361038|PMID:9510469|PMID:9536098|PMID:9609997|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9715372|PMID:9746028|PMID:9760198|PMID:9805131|PMID:9808526
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:69132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048643
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:11102986|PMID:12393792|PMID:14760071|PMID:16267036|PMID:16528604|PMID:23110154|PMID:23239986|PMID:24033266|PMID:24667779|PMID:25741868|PMID:25863477|PMID:28492532|PMID:28888541|PMID:29446198|PMID:30787465|PMID:33273034|PMID:33471991
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25939603|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26656232|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27836010|PMID:27907908|PMID:27914478|PMID:27978560|PMID:28024868|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30128899|PMID:30152102|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30415210|PMID:30458859|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30630528|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30765603|PMID:30787465|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31131967|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31464824|PMID:31477031|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31867841|PMID:32068069|PMID:32295079|PMID:32380732|PMID:32467295|PMID:33413596|PMID:33471991|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25974703|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34981296|PMID:35402282|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27767231|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31528241|PMID:31742824|PMID:3175448|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32467295|PMID:32546644|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32894085|PMID:33087888|PMID:33087929|PMID:33151324
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33726785|PMID:34301763|PMID:34413315|PMID:34597585|PMID:34981296|PMID:35402282|PMID:35918668|PMID:36329109|PMID:36988593|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:22798144|PMID:22843421|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31492746|PMID:31528241
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm	PMID:31742824|PMID:3175448|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32856862|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32980694|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33726785|PMID:34011307|PMID:34196900|PMID:34290354|PMID:34301763|PMID:34326862|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34855882|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35625946|PMID:35753294|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36964191|PMID:36988593|PMID:37523182|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10952777|PMID:11102977|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16912212|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17661172|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: BRIP1-related disorder | ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:31742824|PMID:3175448|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32856862|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32980694|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33726785|PMID:34011307|PMID:34196900|PMID:34290354|PMID:34301763|PMID:34326862|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34855882|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35625946|PMID:35734583|PMID:35753294|PMID:35918668|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36964191|PMID:36988593|PMID:37523182|PMID:38922859|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:22798144|PMID:22843421|PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30551077|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31492746
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:31528241|PMID:31742824|PMID:3175448|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32380732|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32856862|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32980694|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33726785|PMID:34011307|PMID:34196900|PMID:34290354|PMID:34301763|PMID:34326862|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34793697|PMID:34855882|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35625946|PMID:35734583|PMID:35753294|PMID:35918668|PMID:35957908|PMID:36003761|PMID:36329109|PMID:36612302|PMID:36627197|PMID:36964191|PMID:36988593|PMID:37523182|PMID:38645101|PMID:38922859|PMID:39142283|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10090881|PMID:10227398|PMID:10340909|PMID:10389907|PMID:10447273|PMID:10464624|PMID:10480351|PMID:10486320|PMID:10505028|PMID:10635334|PMID:10728699|PMID:10737987|PMID:10739756|PMID:10788334|PMID:10811118|PMID:10882858|PMID:10885601|PMID:10918303|PMID:10952777|PMID:11102977|PMID:11149425|PMID:11157798|PMID:11179017|PMID:11260866|PMID:11278247|PMID:11320250|PMID:11389159|PMID:11466700|PMID:11506493|PMID:11526114|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11733976|PMID:11739404|PMID:11802208|PMID:11802209|PMID:11857748|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11956590|PMID:12068003|PMID:12070551|PMID:12125210|PMID:12142080|PMID:12181777|PMID:12183412|PMID:12204006|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12491487|PMID:12491499|PMID:12496477|PMID:12531920|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12698193|PMID:12732733|PMID:12752644|PMID:12771565|PMID:12810666|PMID:12827452|PMID:12915465|PMID:12938098|PMID:12955716|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14576432|PMID:14576433|PMID:14576434|PMID:14729053|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:15146557|PMID:15168169|PMID:15235020|PMID:15290653|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15383404|PMID:15385441|PMID:15515971|PMID:15569676|PMID:15689452|PMID:15726418|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15923272|PMID:15951956|PMID:15994883|PMID:16014699|PMID:16030099|PMID:16030426|PMID:16168118|PMID:16199547|PMID:16227521|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16616110|PMID:16644204|PMID:16683254|PMID:16758124|PMID:16760288|PMID:16912212|PMID:16998791|PMID:17080309|PMID:17221156|PMID:17257844|PMID:17262179|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17311832|PMID:17453335|PMID:17591842|PMID:17591843|PMID:17645508|PMID:17680524|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17972177|PMID:17990525|PMID:18006916|PMID:18036263|PMID:18159056|PMID:18176857|PMID:18215206|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18431737|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18627636|PMID:18680205|PMID:18694767|PMID:18703817|PMID:18762988|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:19016756|PMID:19098453|PMID:19208665|PMID:19287957|PMID:19359128|PMID:19370767|PMID:19404736|PMID:19452558|PMID:19491284|PMID:19504351|PMID:19543972|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19770520|PMID:19949876|PMID:19996028|PMID:20103620|PMID:20104584|PMID:20167696|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20215541|PMID:20301425|PMID:20345474|PMID:20378548|PMID:20507347|PMID:20516115|PMID:20569256|PMID:20614009|PMID:20683152|PMID:20727672|PMID:20730485|PMID:20737206|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21119707|PMID:21120943|PMID:21147198|PMID:21203900|PMID:21218378|PMID:21232165|PMID:21318380|PMID:21324516|PMID:21356067|PMID:21394826|PMID:21447777|PMID:21503673|PMID:21520273|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21643751|PMID:21702907|PMID:21709188|PMID:21725363|PMID:21769658|PMID:21834074|PMID:21922593|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:22006311|PMID:22009639|PMID:22032251|PMID:22034289|PMID:22044689|PMID:22116506|PMID:22127648|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22399190|PMID:22430266|PMID:22460208|PMID:22476429|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22652532|PMID:22666503|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22776961|PMID:22798144|PMID:22843421
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:22875147|PMID:22923021|PMID:22970155|PMID:23064986|PMID:23161852|PMID:23175448|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23289006|PMID:23364291|PMID:23397983|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23536787|PMID:23555315|PMID:23633455|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23767878|PMID:23867111|PMID:23954390|PMID:23961350|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24131973|PMID:24218521|PMID:24249303|PMID:24312913|PMID:24319668|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24578176|PMID:24667779|PMID:24719479|PMID:24728189|PMID:24728327|PMID:24737347|PMID:24742220|PMID:24772314|PMID:24825132|PMID:24845084|PMID:24884479|PMID:24916970|PMID:24961674|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25256238|PMID:25337278|PMID:25366075|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25480878|PMID:25525159|PMID:25637381|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25748678|PMID:25782689|PMID:25802882|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25927356|PMID:25939603|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26026974|PMID:26028024|PMID:26083025|PMID:26183948|PMID:26187060|PMID:26221963|PMID:26246475|PMID:26287763|PMID:26295337|PMID:26332594|PMID:26344711|PMID:26402875|PMID:26439132|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26543556|PMID:26556299|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26709275|PMID:26718727|PMID:26779294|PMID:26780556|PMID:26824983|PMID:26843898|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26911350|PMID:27062684|PMID:27081505|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27383479|PMID:27393621|PMID:27403073|PMID:27425403|PMID:27433846|PMID:27553291|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27831900|PMID:27836010|PMID:27844240|PMID:27907908|PMID:27914478|PMID:27978560|PMID:27989354|PMID:28024868|PMID:28049106|PMID:28091860|PMID:28111427|PMID:28127413|PMID:28176296|PMID:28179634|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28285342|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28492532|PMID:28503720|PMID:28651617|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28724667|PMID:28767289|PMID:28781887|PMID:28828701|PMID:28831036|PMID:28857155|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29021639|PMID:29088781|PMID:29116469|PMID:29152070|PMID:29161300|PMID:29176636|PMID:29192238|PMID:29263802|PMID:29280214|PMID:29309945|PMID:29310832|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360550|PMID:29409476|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29492181|PMID:29506128|PMID:29566657|PMID:29625052|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785135|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29868112|PMID:29884841|PMID:29907814|PMID:29961768|PMID:29998185|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30199306|PMID:30209399|PMID:30257991|PMID:30283497|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30415210|PMID:30458859|PMID:30480775|PMID:30489631|PMID:30535581|PMID:30551077|PMID:30555256|PMID:30606148|PMID:30613976|PMID:30630528|PMID:30676620|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30832263|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31065452|PMID:31090900|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31409081|PMID:31447099|PMID:31454914|PMID:31464824|PMID:31477031|PMID:31492746|PMID:31528241|PMID:31742824
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:3175448|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31851867|PMID:31867841|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31957001|PMID:32039725|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32211327|PMID:32295079|PMID:32318955|PMID:32338768|PMID:32341426|PMID:32375709|PMID:32380732|PMID:32438681|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32658311|PMID:32710294|PMID:32719484|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32854451|PMID:32856862|PMID:32879886|PMID:32885271|PMID:32894085|PMID:32980694|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33151324|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33471991|PMID:33484353|PMID:33507482|PMID:33558524|PMID:33674644|PMID:33726785|PMID:34011307|PMID:34196900|PMID:34290354|PMID:34301763|PMID:34326862|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34793697|PMID:34855882|PMID:34981296|PMID:35023674|PMID:35116780|PMID:35205313|PMID:35220195|PMID:35264596|PMID:35402282|PMID:35409996|PMID:35464868|PMID:35578052|PMID:35625946|PMID:35734583|PMID:35753294|PMID:35918668|PMID:35957908|PMID:36003761|PMID:36329109|PMID:36537080|PMID:36612302|PMID:36627197|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37523182|PMID:37851290|PMID:38645101|PMID:38922859|PMID:39142283|PMID:6455195|PMID:6848529|PMID:6852015|PMID:7257965|PMID:7493024|PMID:7545954|PMID:7581445|PMID:7627958|PMID:7680524|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:824983|PMID:8531967|PMID:8531968|PMID:8554067|PMID:8595420|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8841191|PMID:8872468|PMID:8875986|PMID:8933332|PMID:8968102|PMID:9042909|PMID:9145676|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9197534|PMID:9361038|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9544766|PMID:9609997|PMID:9634504|PMID:9663595|PMID:9760198|PMID:9792861|PMID:9808526|PMID:9836072
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast Neoplasms | ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10340909|PMID:10728699|PMID:11149425|PMID:11802209|PMID:11896095|PMID:12070551|PMID:12402332|PMID:12442274|PMID:12491499|PMID:12531920|PMID:14531499|PMID:14973102|PMID:15145354|PMID:15235020|PMID:15353005|PMID:15385441|PMID:15829246|PMID:16014699|PMID:16199547|PMID:16267036|PMID:16518693|PMID:16616110|PMID:16760288|PMID:17221156|PMID:17257844|PMID:17279547|PMID:17453335|PMID:17591842|PMID:18176857|PMID:18215206|PMID:18375895|PMID:18415037|PMID:18431501|PMID:18627636|PMID:18680205|PMID:18821011|PMID:19491284|PMID:19619314|PMID:20104584|PMID:20737206|PMID:20859677|PMID:20960228|PMID:21520273|PMID:2152385|PMID:21603858|PMID:21702907|PMID:21989022|PMID:21990134|PMID:22116506|PMID:22217648|PMID:22505045|PMID:22713736|PMID:23175448|PMID:23199084|PMID:23239986|PMID:23555315|PMID:23961350|PMID:24033266|PMID:24667779|PMID:24884479|PMID:25007954|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25525159|PMID:25682074|PMID:25741868|PMID:25896959|PMID:26332594|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26852015|PMID:27062684|PMID:27163896|PMID:27257965|PMID:27433846|PMID:27658390|PMID:27844240|PMID:28111427|PMID:28176296|PMID:28199346|PMID:28222693|PMID:28263838|PMID:28364669|PMID:28492532|PMID:28664449|PMID:28664506|PMID:28857155|PMID:28961279|PMID:29020732|PMID:29263802|PMID:29310832|PMID:29446198|PMID:29470806|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29752822|PMID:29805665|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30111351|PMID:30209399|PMID:30283497|PMID:30287823|PMID:30415210|PMID:30555256|PMID:30702160|PMID:30725392|PMID:30736435|PMID:30840646|PMID:30972954|PMID:30982232|PMID:31131967|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31248605|PMID:31360874|PMID:31409081|PMID:31477031|PMID:31825140|PMID:31907386|PMID:31911673|PMID:32211327|PMID:32375709|PMID:32467295|PMID:32546644|PMID:32548945|PMID:32599251|PMID:32879886|PMID:33087888|PMID:33413596|PMID:33471991|PMID:34981296|PMID:35116780|PMID:35918668|PMID:36627197|PMID:36964191|PMID:37523182|PMID:8723683|PMID:8808710|PMID:8875986|PMID:9510469
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10882857|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102977|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576433|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14729053|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15674350|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16758124
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16782705|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20210032|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20665887|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22085629|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296|PMID:22739995
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24797986|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503966|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25683334|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25945394|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27760710|PMID:27767231|PMID:27802165|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28145423|PMID:28152038|PMID:28176296
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28179634|PMID:28194609|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28588830|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29622700|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936259|PMID:29945567|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30219179|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30340058|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31125277|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31467430|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:31992191|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32152249|PMID:32195105|PMID:32211327|PMID:32257056|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32843487|PMID:32850417|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33067490|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33274848|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34290354|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34657373|PMID:34680878|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039564|PMID:35116780|PMID:35127508|PMID:35196514|PMID:35205313|PMID:35216584|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35438911|PMID:35464868|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35659930|PMID:35665744|PMID:35710434|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36119527|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36292577|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36753473|PMID:36833189|PMID:36922933|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37149903|PMID:37182128|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37851290|PMID:37958491|PMID:37970354|PMID:38355628|PMID:38386807|PMID:38409497|PMID:38641594|PMID:38645101|PMID:38709234|PMID:38785549|PMID:38922859|PMID:39142283|PMID:39402389|PMID:591403|PMID:7493024|PMID:7545954|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9406579|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472|PMID:9840533
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10882857|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102977|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576433|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14729053|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15674350|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16782705|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20210032|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20665887|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22085629|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736|PMID:22737296
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24797986|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503966|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25683334|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25945394|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27760710|PMID:27767231|PMID:27802165|PMID:27836010|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078|PMID:28127413|PMID:28145423
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28588830|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29622700|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936259|PMID:29945567|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30219179|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30340058|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31125277|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31467430|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:31992191|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32152249|PMID:32195105|PMID:32211327|PMID:32257056|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288|PMID:32371905|PMID:32375709|PMID:32377563
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32380732|PMID:32393398|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32843487|PMID:32850417|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33067490|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33274848|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34290354|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34657373|PMID:34680878|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039564|PMID:35116780|PMID:35127508|PMID:35196514|PMID:35205313|PMID:35216584|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35438911|PMID:35464868|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35659930|PMID:35665744|PMID:35710434|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36119527|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36292577|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36660366|PMID:36753473|PMID:36833189|PMID:36922933|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37149903|PMID:37182128|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37851290|PMID:37958491|PMID:37970354|PMID:38219492|PMID:38355628|PMID:38386807|PMID:38409497|PMID:38641594|PMID:38645101|PMID:38709234|PMID:38785549|PMID:38922859|PMID:39142283|PMID:39402389|PMID:591403|PMID:7493024|PMID:7545954|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9406579|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472|PMID:9840533
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10090482|PMID:10090881|PMID:10188893|PMID:10196379|PMID:10227398|PMID:10323242|PMID:10340909|PMID:10389907|PMID:10408690|PMID:10417303|PMID:10422801|PMID:10435628|PMID:10447273|PMID:10464624|PMID:10464631|PMID:10480351|PMID:10480358|PMID:10486320|PMID:10505028|PMID:10508480|PMID:10528853|PMID:10571952|PMID:10595255|PMID:10615237|PMID:10634513|PMID:10644434|PMID:10667592|PMID:10667595|PMID:10682662|PMID:10686936|PMID:10699917|PMID:10737987|PMID:10739756|PMID:10755399|PMID:10788334|PMID:10790221|PMID:10800284|PMID:10804288|PMID:10811118|PMID:10866029|PMID:10874312|PMID:10882857|PMID:10885601|PMID:10918303|PMID:10923033|PMID:10951344|PMID:10952777|PMID:10980541|PMID:10984458|PMID:10995809|PMID:11030417|PMID:11039575|PMID:11044644|PMID:11102977|PMID:11102986|PMID:11139249|PMID:11149413|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11179017|PMID:11180604|PMID:11183185|PMID:11250694|PMID:11251181|PMID:11260866|PMID:11263928|PMID:11278247|PMID:11304778|PMID:11320250|PMID:11334729|PMID:11359908|PMID:11376024|PMID:11385711|PMID:11389159|PMID:11391658|PMID:11400546|PMID:11410501|PMID:11410514|PMID:11431698|PMID:11436123|PMID:11437933|PMID:11462239|PMID:11462242|PMID:11463009|PMID:11466700|PMID:11504767|PMID:11526114|PMID:11573085|PMID:11573086|PMID:1157798|PMID:11595708|PMID:11597388|PMID:11606101|PMID:11668617|PMID:11698567|PMID:11733976|PMID:11739404|PMID:11748305|PMID:11773283|PMID:11802208|PMID:11802209|PMID:11844822|PMID:11873550|PMID:11896095|PMID:11916966|PMID:11920621|PMID:11938448|PMID:11956590|PMID:11979449|PMID:12007222|PMID:12014998|PMID:12037674|PMID:12048272|PMID:12068003|PMID:12070551|PMID:12097257|PMID:12100744|PMID:12112655|PMID:12112659|PMID:12125210|PMID:12142080|PMID:12161611|PMID:12170759|PMID:12181777|PMID:12203997|PMID:12204006|PMID:12212615|PMID:12215251|PMID:122156|PMID:12354784|PMID:12354934|PMID:12360400|PMID:12360411|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12402341|PMID:12427538|PMID:12427738|PMID:12442274|PMID:12442275|PMID:1245799|PMID:12457999|PMID:12491487|PMID:12491499|PMID:12496476|PMID:12496477|PMID:12497638|PMID:12505256|PMID:12531920|PMID:12566964|PMID:12585668|PMID:12601471|PMID:12602912|PMID:12624724|PMID:12655560|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12700893|PMID:12732733|PMID:12752644|PMID:12759930|PMID:12771565|PMID:12810666|PMID:12815604|PMID:12827452|PMID:12845657|PMID:12872263|PMID:12872265|PMID:12890739|PMID:12894890|PMID:12900794|PMID:12915465|PMID:12920083|PMID:12938098|PMID:12947551|PMID:12955716|PMID:12960223|PMID:14517958|PMID:14531499|PMID:14534301|PMID:14555511|PMID:14576433|PMID:14576434|PMID:14647443|PMID:14648706|PMID:14684619|PMID:14729053|PMID:14732925|PMID:14757871|PMID:14760071|PMID:14973102|PMID:14986830|PMID:15001988|PMID:15004537|PMID:15024741|PMID:15026808|PMID:15059511|PMID:15117986|PMID:15131401|PMID:15133502|PMID:15133503|PMID:15145354|PMID:1514655|PMID:15146556|PMID:15146557|PMID:15168169|PMID:15172985|PMID:15184261|PMID:15235020|PMID:15285897|PMID:15290653|PMID:15300854|PMID:15307796|PMID:15340362|PMID:15350310|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15382066|PMID:15383404|PMID:15385441|PMID:15533909|PMID:15564800|PMID:15569676|PMID:15591272|PMID:15617999|PMID:15674350|PMID:15689452|PMID:15726418|PMID:15728167|PMID:15744030|PMID:15744044|PMID:15829246|PMID:15865297|PMID:15876480|PMID:15883839|PMID:15887246|PMID:15923272|PMID:15937982|PMID:15951956|PMID:15951958|PMID:15955237|PMID:15955690|PMID:15994883|PMID:15998910|PMID:16014699|PMID:16026807|PMID:16030099|PMID:16030426|PMID:16103107|PMID:16140926|PMID:16162645|PMID:16168118|PMID:16199547|PMID:16211554|PMID:16227521|PMID:16234499|PMID:16261400|PMID:16267036|PMID:16280041|PMID:16284991|PMID:16287141|PMID:16324400|PMID:16337994|PMID:16397213|PMID:16403807|PMID:16417652|PMID:16455195|PMID:16456781|PMID:16457150|PMID:16485136|PMID:16489001|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16541315|PMID:16544996|PMID:16616110|PMID:16619214|PMID:16644204|PMID:16683254|PMID:16685647|PMID:16715518
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:1673748|PMID:16758124|PMID:16760288|PMID:16760289|PMID:16764716|PMID:16772120|PMID:16782705|PMID:16786532|PMID:16826315|PMID:16835750|PMID:16847550|PMID:16875939|PMID:16905680|PMID:16912212|PMID:16943438|PMID:16949048|PMID:16969499|PMID:16998791|PMID:17005433|PMID:17011978|PMID:17018160|PMID:17020472|PMID:17063270|PMID:17080309|PMID:17088437|PMID:17100994|PMID:17148771|PMID:17221156|PMID:17279547|PMID:17305420|PMID:17307836|PMID:17308087|PMID:17319787|PMID:17333343|PMID:17341484|PMID:17403394|PMID:17453335|PMID:17493881|PMID:17513806|PMID:17557253|PMID:17574969|PMID:17576681|PMID:17585057|PMID:17591843|PMID:17645508|PMID:17646271|PMID:17661172|PMID:17686308|PMID:17688236|PMID:17719744|PMID:17851763|PMID:17902052|PMID:17922257|PMID:17922413|PMID:17924331|PMID:17925560|PMID:17972177|PMID:17990260|PMID:17997147|PMID:18006916|PMID:18036263|PMID:18060491|PMID:18060494|PMID:18071904|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18228134|PMID:18243530|PMID:18273839|PMID:18284688|PMID:18334730|PMID:18375895|PMID:18413725|PMID:18415037|PMID:18418466|PMID:18424508|PMID:18431501|PMID:18431737|PMID:18445692|PMID:18446624|PMID:18465347|PMID:18489799|PMID:18500671|PMID:18512148|PMID:18546071|PMID:18567944|PMID:18627636|PMID:18645608|PMID:18662409|PMID:18680205|PMID:18693280|PMID:18694767|PMID:18703817|PMID:18757339|PMID:18762988|PMID:18763032|PMID:18779604|PMID:18783588|PMID:18798010|PMID:18821011|PMID:18824701|PMID:18835712|PMID:18936166|PMID:18940477|PMID:18951446|PMID:18980973|PMID:18992264|PMID:19016756|PMID:19029836|PMID:19087709|PMID:19098453|PMID:19123044|PMID:19147582|PMID:19200354|PMID:19208665|PMID:19241424|PMID:19276368|PMID:19287957|PMID:19329713|PMID:19339519|PMID:19340607|PMID:19353265|PMID:19359128|PMID:19367322|PMID:19370767|PMID:19404736|PMID:19471317|PMID:19491284|PMID:19491894|PMID:19493677|PMID:19499246|PMID:19543972|PMID:19563646|PMID:19594371|PMID:19619314|PMID:19638463|PMID:19656164|PMID:19656415|PMID:19661094|PMID:19770520|PMID:19805903|PMID:19818148|PMID:19863560|PMID:19941162|PMID:19949876|PMID:19996028|PMID:20020529|PMID:20054658|PMID:20103620|PMID:2010458|PMID:20104584|PMID:20180014|PMID:20180971|PMID:20189727|PMID:20210032|PMID:20215541|PMID:20232141|PMID:20301425|PMID:20345474|PMID:20373018|PMID:20378548|PMID:20455026|PMID:20507347|PMID:20516115|PMID:20526115|PMID:20567915|PMID:20569256|PMID:20614009|PMID:20616022|PMID:20638108|PMID:20665887|PMID:20683152|PMID:20694749|PMID:20727672|PMID:20730485|PMID:20807450|PMID:20838878|PMID:20858050|PMID:20859677|PMID:20950396|PMID:20960228|PMID:20967475|PMID:20981092|PMID:21042765|PMID:21063910|PMID:21080930|PMID:21119707|PMID:21120943|PMID:21147080|PMID:21147198|PMID:21156238|PMID:21170264|PMID:21203900|PMID:21204799|PMID:21205087|PMID:21213370|PMID:21218378|PMID:21232165|PMID:21281505|PMID:21305653|PMID:21318380|PMID:21324156|PMID:21324516|PMID:21348412|PMID:21356067|PMID:21371001|PMID:21394826|PMID:2144777|PMID:21447777|PMID:21473589|PMID:21503673|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21553119|PMID:21559243|PMID:21603858|PMID:21614564|PMID:21643751|PMID:21673748|PMID:21702907|PMID:21708019|PMID:21709188|PMID:21720365|PMID:21725363|PMID:2173504|PMID:21735045|PMID:21769658|PMID:21834074|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21946536|PMID:21965345|PMID:21989022|PMID:21989927|PMID:21990134|PMID:21990165|PMID:21990299|PMID:21993507|PMID:22006311|PMID:22009639|PMID:22010008|PMID:22032251|PMID:22034289|PMID:22044689|PMID:2206311|PMID:22078348|PMID:22085629|PMID:22116506|PMID:22127648|PMID:22136207|PMID:22144684|PMID:22160602|PMID:22172724|PMID:22185575|PMID:22217648|PMID:22277901|PMID:22333603|PMID:22366370|PMID:22399190|PMID:22401979|PMID:22425665|PMID:22430266|PMID:22434525|PMID:22469508|PMID:22476429|PMID:22486713|PMID:22498944|PMID:22505045|PMID:22516946|PMID:22535016|PMID:22544547|PMID:22615956|PMID:22652532|PMID:22655046|PMID:22666503|PMID:22684231|PMID:22703870|PMID:22703879|PMID:22711857|PMID:22713736
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:22737296|PMID:22739995|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22776961|PMID:22798144|PMID:22811390|PMID:22843421|PMID:22848303|PMID:22889855|PMID:22923021|PMID:22970155|PMID:22995991|PMID:22996961|PMID:23034506|PMID:23064986|PMID:23096355|PMID:23110154|PMID:23113073|PMID:23149842|PMID:2316185|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23192404|PMID:23199084|PMID:23231788|PMID:23232912|PMID:23233716|PMID:23239986|PMID:23249957|PMID:23269703|PMID:23274591|PMID:23278966|PMID:23289006|PMID:23341105|PMID:23348723|PMID:23374397|PMID:23451180|PMID:23469205|PMID:23479189|PMID:23519070|PMID:23522120|PMID:23536787|PMID:23555315|PMID:23569316|PMID:23580280|PMID:23613828|PMID:23633455|PMID:23635950|PMID:23674270|PMID:23683081|PMID:23695190|PMID:23704879|PMID:23704984|PMID:23725378|PMID:23747895|PMID:23767878|PMID:23772696|PMID:23867111|PMID:23884708|PMID:23893897|PMID:23942203|PMID:23954390|PMID:23961350|PMID:23982851|PMID:23996866|PMID:24010542|PMID:24033266|PMID:24055113|PMID:24065114|PMID:24082139|PMID:24131973|PMID:24212087|PMID:24218521|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24307375|PMID:24312913|PMID:24319668|PMID:24326041|PMID:24333842|PMID:24372583|PMID:24448499|PMID:24489791|PMID:24504028|PMID:24516540|PMID:24528374|PMID:24549055|PMID:24556621|PMID:24569164|PMID:24578176|PMID:24606420|PMID:24607278|PMID:24618965|PMID:24667779|PMID:24728189|PMID:24728327|PMID:24729269|PMID:24737347|PMID:24742220|PMID:24770866|PMID:24772314|PMID:24797986|PMID:24825132|PMID:24827135|PMID:24830819|PMID:24845084|PMID:24853695|PMID:24884479|PMID:24916970|PMID:24951259|PMID:24961674|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25066507|PMID:25085752|PMID:25085762|PMID:25186627|PMID:25236687|PMID:25256238|PMID:25326637|PMID:25330149|PMID:25337278|PMID:25348012|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25418591|PMID:25426409|PMID:25428789|PMID:25452441|PMID:25472942|PMID:25479140|PMID:25503966|PMID:25525159|PMID:25556971|PMID:25561518|PMID:25628955|PMID:25637381|PMID:25639900|PMID:25643705|PMID:25646469|PMID:25652403|PMID:25682074|PMID:25683334|PMID:25716084|PMID:25724305|PMID:25741868|PMID:25748678|PMID:25777348|PMID:25782689|PMID:25802882|PMID:25814778|PMID:25823446|PMID:25863477|PMID:25880076|PMID:25896959|PMID:25945394|PMID:25948282|PMID:25971625|PMID:25980754|PMID:26010302|PMID:26014432|PMID:26023681|PMID:26026974|PMID:26028024|PMID:26075997|PMID:26083025|PMID:26182302|PMID:26183948|PMID:26187060|PMID:2618727|PMID:26206375|PMID:26207792|PMID:26219265|PMID:26219728|PMID:26221963|PMID:26236408|PMID:26246475|PMID:26250392|PMID:26287763|PMID:26295337|PMID:26296701|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26430151|PMID:26440929|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26556299|PMID:26577449|PMID:26580448|PMID:26622941|PMID:26656232|PMID:26666763|PMID:26681312|PMID:26689913|PMID:26718727|PMID:26720728|PMID:26727311|PMID:26733283|PMID:26745875|PMID:26757417|PMID:26777316|PMID:26778126|PMID:26779294|PMID:26780556|PMID:26786923|PMID:26822237|PMID:26833046|PMID:26843898|PMID:26845104|PMID:26848151|PMID:26848529|PMID:26852015|PMID:26852130|PMID:26864382|PMID:26884819|PMID:26911350|PMID:26913838|PMID:26941049|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27067391|PMID:27081505|PMID:27082205|PMID:27083775|PMID:27124784|PMID:27153395|PMID:27157322|PMID:27163896|PMID:27167707|PMID:27197267|PMID:27208206|PMID:27257965|PMID:27272900|PMID:27286788|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27383479|PMID:27393621|PMID:27425403|PMID:27433846|PMID:27463008|PMID:27469594|PMID:27478808|PMID:27495310|PMID:27498913|PMID:27553291|PMID:27553368|PMID:27658390|PMID:27683183|PMID:27741520|PMID:27760710|PMID:27767231|PMID:27802165|PMID:27836010|PMID:27854218|PMID:27907908|PMID:27908594|PMID:27914478|PMID:27978560|PMID:27989354|PMID:27997688|PMID:28024868|PMID:28049106|PMID:28050010|PMID:28076423|PMID:28091860|PMID:28111427|PMID:28122244|PMID:28123851|PMID:28125078
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:28127413|PMID:28145423|PMID:28152038|PMID:28176296|PMID:28179634|PMID:28194609|PMID:28195393|PMID:28222693|PMID:28265380|PMID:28281021|PMID:28283652|PMID:28285342|PMID:28288110|PMID:28294317|PMID:28324225|PMID:28364669|PMID:28398198|PMID:28414925|PMID:28423363|PMID:28477318|PMID:28478614|PMID:28480178|PMID:28486781|PMID:28490613|PMID:28492532|PMID:28493033|PMID:28503720|PMID:28525389|PMID:28528518|PMID:28569743|PMID:28588830|PMID:28637432|PMID:28664449|PMID:28664506|PMID:28680148|PMID:28692638|PMID:28715532|PMID:28717660|PMID:28724667|PMID:28726806|PMID:28767289|PMID:28781887|PMID:28807866|PMID:28831036|PMID:28873162|PMID:28888541|PMID:28944232|PMID:28961279|PMID:28985766|PMID:28993434|PMID:29020660|PMID:29020732|PMID:29021639|PMID:29021971|PMID:29036293|PMID:29053726|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29133208|PMID:29152070|PMID:29156836|PMID:29161300|PMID:29168416|PMID:29176636|PMID:29192238|PMID:29202330|PMID:29215753|PMID:29215764|PMID:29233532|PMID:29240602|PMID:29263802|PMID:29280214|PMID:29297111|PMID:29310832|PMID:29312738|PMID:29335924|PMID:29335925|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29409476|PMID:29433453|PMID:29435075|PMID:29446198|PMID:29470806|PMID:29478780|PMID:29486991|PMID:29487695|PMID:29492181|PMID:29506128|PMID:29550896|PMID:29565420|PMID:29566657|PMID:29622700|PMID:29625052|PMID:29667044|PMID:29673794|PMID:29681614|PMID:29684080|PMID:29687286|PMID:29712865|PMID:29750258|PMID:29752822|PMID:29758562|PMID:29770616|PMID:29785153|PMID:29790872|PMID:29797126|PMID:29805665|PMID:29875428|PMID:29884136|PMID:29884841|PMID:29901183|PMID:29903880|PMID:29907814|PMID:29922827|PMID:29928469|PMID:29936259|PMID:29945567|PMID:29961768|PMID:29998185|PMID:30014164|PMID:30033118|PMID:30040829|PMID:30067863|PMID:30078507|PMID:30093976|PMID:30101128|PMID:30103829|PMID:30111351|PMID:30113427|PMID:30128899|PMID:30130155|PMID:30152102|PMID:30159786|PMID:30186769|PMID:30191368|PMID:30199306|PMID:30209399|PMID:30214756|PMID:30219179|PMID:30254663|PMID:30257646|PMID:30257991|PMID:30262796|PMID:30263132|PMID:30264118|PMID:30266954|PMID:30274973|PMID:30287823|PMID:30309222|PMID:30322717|PMID:30333958|PMID:30340058|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30441849|PMID:30446274|PMID:30458859|PMID:30472649|PMID:30480775|PMID:30487145|PMID:30489631|PMID:30535581|PMID:30545397|PMID:30551077|PMID:30555256|PMID:30564348|PMID:30603682|PMID:30606148|PMID:30613976|PMID:30630526|PMID:30630528|PMID:30646163|PMID:30666157|PMID:30675319|PMID:30676620|PMID:30678073|PMID:30702160|PMID:30720243|PMID:30720863|PMID:30725392|PMID:30726305|PMID:30728895|PMID:30736435|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30825404|PMID:30840646|PMID:30875412|PMID:30927251|PMID:30962250|PMID:30968603|PMID:30972954|PMID:30975216|PMID:30982232|PMID:31013702|PMID:31065452|PMID:31090900|PMID:31112341|PMID:31125277|PMID:31131967|PMID:31143303|PMID:31159747|PMID:31174498|PMID:31209999|PMID:31214711|PMID:31228304|PMID:31248605|PMID:31263571|PMID:31294896|PMID:31300551|PMID:31325073|PMID:31331294|PMID:31336956|PMID:31341520|PMID:31343793|PMID:31347298|PMID:31360874|PMID:31360904|PMID:31368036|PMID:31372034|PMID:31407530|PMID:31409081|PMID:31447071|PMID:31447099|PMID:31451522|PMID:31454914|PMID:31467430|PMID:31468469|PMID:31472684|PMID:31477031|PMID:31481248|PMID:31492746|PMID:31528241|PMID:31565484|PMID:31589614|PMID:31616044|PMID:31639439|PMID:31642931|PMID:31683985|PMID:31742824|PMID:31753525|PMID:31771539|PMID:31780705|PMID:31794323|PMID:31815095|PMID:31825140|PMID:31843900|PMID:31850619|PMID:31851867|PMID:31853058|PMID:31871297|PMID:31897316|PMID:31907386|PMID:31908633|PMID:31911673|PMID:31921681|PMID:31954625|PMID:31957001|PMID:31992191|PMID:32025337|PMID:32029870|PMID:32039725|PMID:32042831|PMID:32058061|PMID:32068069|PMID:32072338|PMID:32073954|PMID:32091409|PMID:32101877|PMID:32123317|PMID:32124385|PMID:32152249|PMID:32195105|PMID:32211327|PMID:32257056|PMID:32295079|PMID:32322110|PMID:32338768|PMID:32341426|PMID:32355288
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32371905|PMID:32375709|PMID:32377563|PMID:32380732|PMID:32393398|PMID:32420470|PMID:32426482|PMID:32438681|PMID:32467295|PMID:32486089|PMID:32495382|PMID:32504368|PMID:32531196|PMID:32546644|PMID:32548945|PMID:32566972|PMID:32614418|PMID:32623769|PMID:32658311|PMID:32699032|PMID:32710294|PMID:32719484|PMID:32720237|PMID:32733560|PMID:32741062|PMID:32772980|PMID:32782288|PMID:32803532|PMID:32806537|PMID:32817299|PMID:32832836|PMID:32843487|PMID:32850417|PMID:32854451|PMID:32856862|PMID:32856869|PMID:32862574|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32918181|PMID:32959997|PMID:32963034|PMID:32980694|PMID:33008098|PMID:33010199|PMID:33067490|PMID:33087180|PMID:33087888|PMID:33087929|PMID:33098347|PMID:33151324|PMID:33206196|PMID:33273034|PMID:33274848|PMID:33309985|PMID:33314633|PMID:33413596|PMID:33442023|PMID:33449224|PMID:33468216|PMID:3347199|PMID:33471991|PMID:33477375|PMID:33478551|PMID:33484353|PMID:33507482|PMID:33526602|PMID:33552952|PMID:33558524|PMID:33573335|PMID:33606809|PMID:33646313|PMID:33654310|PMID:33670479|PMID:33674644|PMID:33720054|PMID:33726785|PMID:33758026|PMID:33801055|PMID:33875564|PMID:33875706|PMID:33888336|PMID:33937409|PMID:33945048|PMID:34011307|PMID:34026625|PMID:34046351|PMID:34063308|PMID:34072659|PMID:34178674|PMID:34196900|PMID:34235180|PMID:34242281|PMID:34284872|PMID:34290354|PMID:34326862|PMID:34403063|PMID:34413315|PMID:34529195|PMID:34597585|PMID:34657373|PMID:34680878|PMID:34721658|PMID:34749799|PMID:34793697|PMID:34855882|PMID:34906479|PMID:34917121|PMID:34930165|PMID:34981296|PMID:35023674|PMID:35039564|PMID:35116780|PMID:35127508|PMID:35196514|PMID:35205313|PMID:35216584|PMID:35220195|PMID:35264596|PMID:35281878|PMID:35300142|PMID:35313928|PMID:35377489|PMID:35382848|PMID:35402282|PMID:35409996|PMID:35438911|PMID:35464868|PMID:35534704|PMID:35578052|PMID:35585550|PMID:35625946|PMID:35659930|PMID:35665744|PMID:35710434|PMID:35734436|PMID:35734583|PMID:35753294|PMID:35833951|PMID:35858847|PMID:35864222|PMID:35875314|PMID:35908255|PMID:35918668|PMID:35957908|PMID:35980532|PMID:36003761|PMID:36011273|PMID:36119527|PMID:36169650|PMID:36171434|PMID:36171877|PMID:36292577|PMID:36329109|PMID:36331686|PMID:36367610|PMID:36446827|PMID:36451132|PMID:36537080|PMID:36612302|PMID:36660366|PMID:36753473|PMID:36833189|PMID:36922933|PMID:36927983|PMID:36964191|PMID:36974006|PMID:36988593|PMID:37085799|PMID:37149903|PMID:37182128|PMID:37310942|PMID:37335020|PMID:37415649|PMID:37851290|PMID:37958491|PMID:37970354|PMID:38160042|PMID:38219492|PMID:38355628|PMID:38386807|PMID:38409497|PMID:38641594|PMID:38645101|PMID:38709234|PMID:38785549|PMID:38922859|PMID:39142283|PMID:39402389|PMID:591403|PMID:7493024|PMID:7545954|PMID:7606717|PMID:7611277|PMID:7663517|PMID:7795652|PMID:7837387|PMID:7894491|PMID:7894492|PMID:7894493|PMID:7939630|PMID:8531967|PMID:8531968|PMID:8533757|PMID:8554067|PMID:8571953|PMID:8595420|PMID:8595428|PMID:8606385|PMID:8644702|PMID:8644703|PMID:8723683|PMID:8776600|PMID:8807330|PMID:8808710|PMID:8833256|PMID:8840964|PMID:8841191|PMID:8875986|PMID:8933332|PMID:8956054|PMID:8968102|PMID:8968716|PMID:8972225|PMID:8990217|PMID:9010228|PMID:9042907|PMID:9042909|PMID:9063749|PMID:9145676|PMID:9145677|PMID:9150148|PMID:9150149|PMID:9150151|PMID:9150153|PMID:9150154|PMID:9159158|PMID:9333265|PMID:9361038|PMID:9391879|PMID:9406579|PMID:9440731|PMID:9452076|PMID:9510469|PMID:9523200|PMID:9525870|PMID:9536098|PMID:9544766|PMID:9585599|PMID:9609997|PMID:9625424|PMID:9634504|PMID:9649133|PMID:9663595|PMID:9667259|PMID:9677103|PMID:9760198|PMID:9788557|PMID:9792861|PMID:9796975|PMID:9799248|PMID:9805131|PMID:9808526|PMID:9836472|PMID:9840533
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10340909|PMID:10634513|PMID:10644434|PMID:10686936|PMID:10804288|PMID:10811118|PMID:10923033|PMID:11102986|PMID:11139249|PMID:11149425|PMID:11157798|PMID:11162473|PMID:11359908|PMID:11431698|PMID:11573085|PMID:11573086|PMID:11595708|PMID:11698567|PMID:11739404|PMID:11802209|PMID:11873550|PMID:11896095|PMID:12037674|PMID:12070551|PMID:12080089|PMID:12100744|PMID:12170759|PMID:12203997|PMID:12393792|PMID:12400015|PMID:12402332|PMID:12442274|PMID:12624724|PMID:12672316|PMID:12673801|PMID:12698193|PMID:12774040|PMID:12815604|PMID:12872263|PMID:12890739|PMID:12947551|PMID:12960223|PMID:14513821|PMID:14534301|PMID:14576433|PMID:14760071|PMID:14973102|PMID:15059511|PMID:15133503|PMID:15168169|PMID:15235020|PMID:15353005|PMID:15365993|PMID:15375703|PMID:15385441|PMID:15689452|PMID:15829246|PMID:16014699|PMID:16030099|PMID:16199547|PMID:16267036|PMID:16403807|PMID:16455195|PMID:16456781|PMID:16485136|PMID:16515586|PMID:16518693|PMID:16528604|PMID:16616110|PMID:16683254|PMID:16685647|PMID:16715518|PMID:1673748|PMID:16760288|PMID:16764716|PMID:16772120|PMID:16782705|PMID:16835750|PMID:16943438|PMID:16949048|PMID:17011978|PMID:17020472|PMID:17100994|PMID:17333343|PMID:17453335|PMID:17576681|PMID:17591843|PMID:17646271|PMID:17661172|PMID:17719744|PMID:17851763|PMID:17922257|PMID:17924331|PMID:17925560|PMID:17997147|PMID:18060491|PMID:18092194|PMID:18097605|PMID:18159056|PMID:18259752|PMID:18418466|PMID:18431501|PMID:18512148|PMID:18546071|PMID:18627636|PMID:18645608|PMID:18680205|PMID:18693280|PMID:18757339|PMID:18936166|PMID:19016756|PMID:19241424|PMID:19491284|PMID:19499246|PMID:19543972|PMID:19563646|PMID:20104584|PMID:20232141|PMID:20301425|PMID:20516115|PMID:20567915|PMID:20616022|PMID:20859677|PMID:21080930|PMID:21147080|PMID:21156238|PMID:21213370|PMID:21232165|PMID:21281505|PMID:21318380|PMID:21324516|PMID:21348412|PMID:21394826|PMID:21520273|PMID:21520333|PMID:2152385|PMID:21523855|PMID:21614564|PMID:21673748|PMID:21702907|PMID:21735045|PMID:21859355|PMID:21913181|PMID:21918853|PMID:21918854|PMID:21922593|PMID:21989022|PMID:21990134|PMID:22006311|PMID:22078348|PMID:22116506|PMID:22144684|PMID:22160602|PMID:22217648|PMID:22333603|PMID:22430266|PMID:22486713|PMID:22505045|PMID:22516946|PMID:22544547|PMID:22615956|PMID:22682623|PMID:22713736|PMID:22752604|PMID:22753008|PMID:22762150|PMID:22798144|PMID:22843421|PMID:22923021|PMID:23110154|PMID:23161852|PMID:23164213|PMID:23175448|PMID:23233716|PMID:23239986|PMID:23479189|PMID:23555315|PMID:23613828|PMID:23704879|PMID:23867111|PMID:24010542|PMID:24033266|PMID:24065114|PMID:24131973|PMID:24212087|PMID:24240112|PMID:24249303|PMID:24285858|PMID:24321281|PMID:24326041|PMID:24448499|PMID:24504028|PMID:24569164|PMID:24667779|PMID:24728327|PMID:24729269|PMID:24845084|PMID:24853695|PMID:25011685|PMID:25036526|PMID:25041116|PMID:2504116|PMID:25085752|PMID:25186627|PMID:25356972|PMID:25371446|PMID:25400221|PMID:25452441|PMID:25525159|PMID:25628955|PMID:25652403|PMID:25682074|PMID:25741868|PMID:25823446|PMID:25863477|PMID:25971625|PMID:26187060|PMID:26287763|PMID:26295337|PMID:26306726|PMID:26332594|PMID:26334176|PMID:26350514|PMID:26402875|PMID:26467025|PMID:26530882|PMID:26541979|PMID:26681312|PMID:26689913|PMID:26727311|PMID:26843898|PMID:26845104|PMID:26848529|PMID:26852015|PMID:26864382|PMID:26911350|PMID:26913838|PMID:26976419|PMID:26997744|PMID:27008870|PMID:27060149|PMID:27062684|PMID:27083775|PMID:27197267|PMID:27257965|PMID:27272900|PMID:27300552|PMID:27328445|PMID:27376475|PMID:27381626|PMID:27433846|PMID:27469594|PMID:27658390|PMID:27836010|PMID:27843123|PMID:27997688|PMID:28076423|PMID:28111427|PMID:28122244|PMID:28135145|PMID:28176296|PMID:28222693|PMID:28283652|PMID:28324225|PMID:28364669|PMID:28492532|PMID:28528518|PMID:28664449|PMID:28664506|PMID:28692638|PMID:28724667|PMID:28726806|PMID:28781887|PMID:28873162|PMID:28888541|PMID:28947987|PMID:28961279|PMID:28993434|PMID:29020732|PMID:29036293|PMID:29088781|PMID:29093764|PMID:29116469|PMID:29156836|PMID:29176636|PMID:29240602
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial Breast cancer | ClinVar Annotator: match by term: Familial cancer of breast	PMID:29263802|PMID:29310832|PMID:29339979|PMID:29348823|PMID:29360161|PMID:29433453|PMID:29446198|PMID:29470806|PMID:29566657|PMID:29681614|PMID:29687286|PMID:29750258|PMID:29752822|PMID:29785153|PMID:29805665|PMID:29905759|PMID:29907814|PMID:30078507|PMID:30093976|PMID:30105462|PMID:30111351|PMID:30113427|PMID:30209399|PMID:30212499|PMID:30219179|PMID:30257991|PMID:30274973|PMID:30287823|PMID:30350268|PMID:30400234|PMID:30415210|PMID:30458859|PMID:30551077|PMID:30623411|PMID:30630526|PMID:30675319|PMID:30702160|PMID:30720863|PMID:30725392|PMID:30728895|PMID:30765603|PMID:30787465|PMID:30788324|PMID:30840646|PMID:30875412|PMID:30972954|PMID:30982232|PMID:31131967|PMID:31159747|PMID:31209999|PMID:31214711|PMID:31248605|PMID:31336956|PMID:31341520|PMID:31360874|PMID:31368036|PMID:31409081|PMID:31477031|PMID:31642931|PMID:31780705|PMID:31815095|PMID:31825140|PMID:31853058|PMID:31907386|PMID:31911673|PMID:31992191|PMID:32029870|PMID:32203205|PMID:32211327|PMID:32398771|PMID:32420470|PMID:32438681|PMID:32467295|PMID:32495382|PMID:32546644|PMID:32548945|PMID:32623769|PMID:32868804|PMID:32879886|PMID:32885271|PMID:32895300|PMID:32963463|PMID:32980694|PMID:33067490|PMID:33083013|PMID:33087888|PMID:33273034|PMID:33413596|PMID:33471991|PMID:33558524|PMID:33801055|PMID:34026625|PMID:34063308|PMID:34072659|PMID:34326862|PMID:34793697|PMID:34981296|PMID:35116780|PMID:35281878|PMID:35456503|PMID:35534704|PMID:35641994|PMID:35710434|PMID:35864222|PMID:35918668|PMID:36171434|PMID:36243179|PMID:36329109|PMID:36331686|PMID:36451132|PMID:36660366|PMID:36964191|PMID:36988593|PMID:37335020|PMID:37563628|PMID:37937776|PMID:37958491|PMID:38160042|PMID:38219492|PMID:38298632|PMID:38645101|PMID:38922859|PMID:39142283|PMID:40714512|PMID:7894493|PMID:8723683|PMID:8808710|PMID:8972225|PMID:9150149|PMID:9440731|PMID:9510469|PMID:9536098|PMID:9760198|PMID:9796975|PMID:9805131
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:69132	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urinary Bladder Neoplasms	PMID:11504767|PMID:11710835|PMID:20104584|PMID:25741868|PMID:26467025|PMID:28176296|PMID:28492532|PMID:29310832|PMID:29339979|PMID:29446198|PMID:29975922|PMID:30702160|PMID:30720863|PMID:31209999|PMID:31300551|PMID:31477031|PMID:32850417|PMID:34403063|PMID:36605468|PMID:39272924|PMID:9150154
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9256	colorectal cancer		ISO	RGD:69132	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1	PMID:25741868|PMID:28492532|PMID:30209399|PMID:30257991
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9256	colorectal cancer		ISO	RGD:69132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1	PMID:25741868
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:69132	D	RGD:9068941	20210430	RGD			PMID:16533773|REF_RGD_ID:126790575
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9256	colorectal cancer	onset	ISO	RGD:69132	D	RGD:9068941	20210521	RGD			PMID:20862552|REF_RGD_ID:126925961
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:69132	D	RGD:9068941	20210604	RGD		DNA:nonsense mutation: :p.Q563* (human)	PMID:28857155|REF_RGD_ID:127229936
12124452	BRCA1	BRCA1 DNA repair associated	gene	DOID:9834	hyperopia		ISO	RGD:69132	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	disease_progression	ISO	RGD:731027	D	RGD:9068941	20250301	RGD		DNA:SNP: :66V>M	PMID:19170664|REF_RGD_ID:597830066
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	sexual_dimorphism	ISO	RGD:10235	D	RGD:9068941	20250102	RGD		protein:altered expression:hippocampus	PMID:37303582|REF_RGD_ID:596936394
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2202	D	RGD:9068941	20240127	RGD			PMID:32579730|PMID:34453945|REF_RGD_ID:401959604|REF_RGD_ID:401959610
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:10235	D	RGD:9068941	20250501	RGD		protein:increased expression:striatum (mouse)	PMID:33242460|REF_RGD_ID:598154614
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:2202	D	RGD:9068941	20240606	RGD		associated with alcohol use disorder;mRNA:increased expression:shell of nucleus accumbens	PMID:25155311|REF_RGD_ID:405850247
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050742	nicotine dependence		ISO	RGD:731027	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:17186223|PMID:20418890
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16061712|REF_RGD_ID:4891119
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0051061	stroke	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with middle cerebral artery infarction	PMID:34284448|REF_RGD_ID:597015748
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:2202	D	RGD:9068941	20240111	RGD		associated with morphine dependence;mRNA:alternative form:frontal cortex, midbrain	PMID:25392083|REF_RGD_ID:401950484
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12574402
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060001	withdrawal disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20231230	RGD		associated with nicotine dependence	PMID:24682499|REF_RGD_ID:401940143
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21984201|REF_RGD_ID:12801412
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060180	colitis		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:19932037|REF_RGD_ID:8657331
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0060731	congenital central hypoventilation syndrome		ISO	RGD:731027	D	RGD:9068941	20250724	RGD			PMID:11840487|REF_RGD_ID:734643
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16018990|REF_RGD_ID:8657066
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:CA3 field of hippocampus, dentate gyrus	PMID:10925157|REF_RGD_ID:596936229
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:inferior colliculus:	PMID:20598895|REF_RGD_ID:8655560
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10126	keratoconus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:corneal epithelium, anterior stroma of cornea:	PMID:23489213|REF_RGD_ID:8655632
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10534	stomach cancer		ISO	RGD:731027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1059	intellectual disability		ISO	RGD:731027	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11357950
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20646587|REF_RGD_ID:4891131
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17344400
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms, haplotypes: :196G>A (p.V66M), 270C>T, 11757G>C (human)	PMID:23215636|REF_RGD_ID:10059345
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:parietal cortex	PMID:12654514|REF_RGD_ID:10058980
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.V66M (human)	PMID:16627933|REF_RGD_ID:10059343
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)	PMID:16565926|REF_RGD_ID:10059346
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs1048218 (human)	PMID:18780967|REF_RGD_ID:5508228
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:10235	D	RGD:9068941	20240608	RGD			PMID:30776009|REF_RGD_ID:405850256
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24877042|PMID:33352241|REF_RGD_ID:10059402|REF_RGD_ID:597015751
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1070	primary open angle glaucoma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21076359|REF_RGD_ID:8655612
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10914	amnestic disorder		ISO	RGD:2202	D	RGD:9068941	20240201	RGD		protein:decreased expression:amygdala, hippocampus, prefrontal cortex	PMID:31400468|REF_RGD_ID:401960871
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10914	amnestic disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20240201	RGD			PMID:25061594|PMID:28716085|REF_RGD_ID:10059361|REF_RGD_ID:401960865
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:2202	D	RGD:9068941	20240127	RGD		associated with morphine withdrawal disorder;mRNA:decreased expression:nucleus accumbens	PMID:31693870|REF_RGD_ID:401959588
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:12836135|REF_RGD_ID:734644
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:10933	obsessive-compulsive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20240711	RGD			PMID:31927718|REF_RGD_ID:405866519
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1094	attention deficit hyperactivity disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:25061595|REF_RGD_ID:10059388
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:22309829|REF_RGD_ID:8657100
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24388817|REF_RGD_ID:10059363
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:11832	visual epilepsy		ISO	RGD:731027	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15781040|PMID:21269288|PMID:9073163
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:11981	morbid obesity		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21708048
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12098	trigeminal neuralgia	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD			PMID:32193501|REF_RGD_ID:596948422
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12689	acoustic neuroma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral nerve:	PMID:19937367|REF_RGD_ID:8655552
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12849	autistic disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17349978|PMID:20662941
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:19499586|REF_RGD_ID:10059353
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:cerebral cortex	PMID:18093249|REF_RGD_ID:10058981
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:17885687|REF_RGD_ID:10415531
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:12894	Sjogren's syndrome	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:18830907|REF_RGD_ID:8657019
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:13399	color blindness	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with  Alcoholism;DNA:polymorphism:cds:p.V66M(rs6265)(human)	PMID:21640793|REF_RGD_ID:8655850
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16315781|REF_RGD_ID:4891110
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:13544	low tension glaucoma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:tear:	PMID:19861219|REF_RGD_ID:8655604
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:13709	premature ejaculation		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		protein:decreased expression:raphe nuclei	PMID:34384732|REF_RGD_ID:597830150
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19276553
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:substantia nigra pars compacta:	PMID:10208589|REF_RGD_ID:8657025
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 270C>T (human)	PMID:16565926|REF_RGD_ID:10059346
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1459	hypothyroidism		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20600205|REF_RGD_ID:4891132
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1470	major depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21803060|REF_RGD_ID:8655887
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1555	urticaria		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,skin:	PMID:21676041|REF_RGD_ID:8657027
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1561	cognitive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with WAGR Syndrome;DNA:haploinsufficiency: :	PMID:23517654|REF_RGD_ID:8655893
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1561	cognitive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with hypertension	PMID:22948091|REF_RGD_ID:597015756
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:10235	D	RGD:9068941	20240229	RGD		protein:decreased expression:cerebellum, hippocampus	PMID:19100286|REF_RGD_ID:401976492
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:10235	D	RGD:9068941	20250104	RGD		mRNA, protein:altered expression:brain	PMID:32330588|REF_RGD_ID:596936412
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20200716	RGD		protein:decreased expression:plasma	PMID:32135570|REF_RGD_ID:35673317
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20231221	RGD		mRNA,protein:decreased expression:hippocampus, plasma (rat)	PMID:30277635|REF_RGD_ID:401938665
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2202	D	RGD:9068941	20240215	RGD		protein:altered expression:brain	PMID:15307153|REF_RGD_ID:401965482
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder		ISO	RGD:731027	D	RGD:9068941	20231221	RGD		protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20241221	RGD			PMID:33919862|REF_RGD_ID:596933362
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:22097208|REF_RGD_ID:5684923
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:20920483|REF_RGD_ID:4891127
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16330021|PMID:21945287
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lymphocyte, platelet	PMID:20227453|REF_RGD_ID:4891139
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD		associated with Endotoxemia	PMID:33721753|REF_RGD_ID:596936413
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250109	RGD		associated with alcohol use disorder	PMID:31820774|REF_RGD_ID:596938172
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:10235	D	RGD:9068941	20250308	RGD			PMID:37716030|REF_RGD_ID:597830154
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24128869|PMID:32682983|PMID:33248184|REF_RGD_ID:10059357|REF_RGD_ID:597015759|REF_RGD_ID:597015761
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with Experimental Diabetes Mellitus	PMID:31601968|PMID:31660632|REF_RGD_ID:596948419|REF_RGD_ID:597015749
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20250118	RGD		associated with stress-related disorder	PMID:32578646|REF_RGD_ID:597015768
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1679	cystitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20079809|PMID:9631447|REF_RGD_ID:5684910|REF_RGD_ID:8657090
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1686	glaucoma		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:decreased expression:eye:	PMID:10711692|REF_RGD_ID:8655608
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1686	glaucoma	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:21498611|REF_RGD_ID:8655886
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1686	glaucoma	treatment	ISO	RGD:731027	D	RGD:9068941	20250109	RGD			PMID:19422885|PMID:32872441|REF_RGD_ID:596948417|REF_RGD_ID:8655601
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:19366663|PMID:19686240|REF_RGD_ID:4891125|REF_RGD_ID:5684912
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8635431|PMID:8821376
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1824	status epilepticus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:19686240|REF_RGD_ID:5684912
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:1826	epilepsy		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15282290
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:2202	D	RGD:9068941	20231221	RGD		associated with alcohol dependence	PMID:24103311|REF_RGD_ID:401938663
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:2202	D	RGD:9068941	20231221	RGD		associated with alcohol use disorder	PMID:18322102|PMID:25814047|REF_RGD_ID:401938616|REF_RGD_ID:401938652
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2030	anxiety disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20220210	RGD			PMID:25283985|REF_RGD_ID:151356735
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2055	post-traumatic stress disorder	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:196G>A (p.V66M) (human)	PMID:23319005|REF_RGD_ID:10059367
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2055	post-traumatic stress disorder	treatment	ISO	RGD:2202	D	RGD:9068941	20240104	RGD			PMID:28791385|REF_RGD_ID:401940159
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with middle cerebral artery infarction	PMID:33227709|REF_RGD_ID:597015753
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2316	brain ischemia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19922383
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2377	multiple sclerosis	onset	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:20656764|REF_RGD_ID:5684915
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2468	psychotic disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2559	opiate dependence		ISO	RGD:731027	D	RGD:9068941	20240606	RGD		protein:increased expression:serum	PMID:21890593|REF_RGD_ID:405850248
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20240125	RGD		protein:decreased expression:nucleus accumbens	PMID:32428531|REF_RGD_ID:401959372
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:32860885|REF_RGD_ID:596936242
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:hippocampus	PMID:28940732|REF_RGD_ID:596936232
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD			PMID:27461790|PMID:32323150|REF_RGD_ID:401940145|REF_RGD_ID:596936415
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:21872672|REF_RGD_ID:596936244
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:11737043|REF_RGD_ID:4891123
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V66M, -270C>T (human)	PMID:17584309|REF_RGD_ID:4891067
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood, eosinophil	PMID:12752594|REF_RGD_ID:4891122
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.V66M (rs6265) (human)	PMID:19895626|REF_RGD_ID:4891117
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20874832|REF_RGD_ID:4891063
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2841	asthma	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)	PMID:21723144|REF_RGD_ID:8655967
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:2952	inner ear disease		ISO	RGD:8807547	D	RGD:9068941	20200609	RGD			PMID:10536212|REF_RGD_ID:11556223
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3082	interstitial lung disease		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome;protein:decreased expression:serum:	PMID:24691584|REF_RGD_ID:8657022
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mast cell	PMID:17845420|REF_RGD_ID:8657065
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:17073871|REF_RGD_ID:8657069
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.V66M(human)	PMID:19038326|REF_RGD_ID:8657067
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphism::C270T(human)	PMID:19522715|REF_RGD_ID:8657028
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3312	bipolar disorder		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030|PMID:19018715
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3324	mood disorder	treatment	ISO	RGD:731027	D	RGD:9068941	20240606	RGD			PMID:34078872|REF_RGD_ID:405850253
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD			PMID:20417695|PMID:28202057|PMID:31927682|PMID:35218623|REF_RGD_ID:401960864|REF_RGD_ID:405878057|REF_RGD_ID:4891138|REF_RGD_ID:596948420
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:12917229|REF_RGD_ID:4891121
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:418	systemic scleroderma		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:21085492|REF_RGD_ID:5144060
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:4483	rhinitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:20464992|REF_RGD_ID:4891116
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotypes: :rs10767664,rs12273539,rs962369(human)	PMID:21723144|REF_RGD_ID:8655967
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731027	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:5154	borna disease		ISO	RGD:2202	D	RGD:9068941	20240222	RGD		mRNA:decreased expression:hippocampus	PMID:11175319|REF_RGD_ID:2325644
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:5295	intestinal disease	treatment	ISO	RGD:2202	D	RGD:9068941	20250111	RGD			PMID:32120967|REF_RGD_ID:596948431
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:5419	schizophrenia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12951204|PMID:14708030|PMID:17442489|PMID:18408624
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:6088	acute stress disorder		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		mRNA:increased expression:prefrontal  cortex	PMID:30425618|REF_RGD_ID:597830163
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20240222	RGD		protein:decreased expression:hippocampus	PMID:24407463|REF_RGD_ID:401976437
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA:increased expression:nucleus accumbens, dorsal striatum	PMID:33961872|REF_RGD_ID:596936246
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250109	RGD		protein:increased expression:nucleus accumbens, ventral tegmental area	PMID:37904065|REF_RGD_ID:596938173
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:2202	D	RGD:9068941	20250116	RGD		protein:increased expression:frontal cortex, striatum	PMID:31693929|REF_RGD_ID:597015747
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:670	amphetamine abuse		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20736000
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023256
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:809	cocaine abuse		ISO	RGD:10235	D	RGD:9068941	20250109	RGD		mRNA:increased expression:nucleus accumbens	PMID:31280332|REF_RGD_ID:596948400
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:12764104|PMID:17525224|REF_RGD_ID:8655627|REF_RGD_ID:8655860
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:16123443|REF_RGD_ID:8655588
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:12454046|REF_RGD_ID:8655652
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:863	nervous system disease		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22240983
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD			PMID:24622829|PMID:32227765|REF_RGD_ID:10059369|REF_RGD_ID:597015752
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16186425|REF_RGD_ID:4891111
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased expression:retina:	PMID:15331553|REF_RGD_ID:8655657
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:19203225|REF_RGD_ID:4891066
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:16022868|REF_RGD_ID:4891112
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:10235	D	RGD:9068941	20240606	RGD			PMID:22490786|REF_RGD_ID:405850245
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24551172|REF_RGD_ID:10059354
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000111	Radiation Injuries	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24333433|REF_RGD_ID:10059359
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000307	Presbycusis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cochlea	PMID:17168119|REF_RGD_ID:8655551
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000499	Alcoholic Intoxication		ISO	RGD:10235	D	RGD:9068941	20240203	RGD		mRNA,protein:decreased expression:cerebellum	PMID:19861148|REF_RGD_ID:401965398
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:731027	D	RGD:9068941	20240608	RGD		mRNA:increased expression:intervertebral disc	PMID:37888810|REF_RGD_ID:405850252
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000641	Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20452292|REF_RGD_ID:4891137
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15500971|PMID:21269288
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9000998	Brain Injuries		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:20544832|REF_RGD_ID:4891136
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:10235	D	RGD:9068941	20250102	RGD		associated with alcohol use disorder;protein:increased expression:thyroid gland	PMID:24334784|REF_RGD_ID:401976286
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder;mRNA, protein:decreased expression:hippocampus, serum	PMID:32497709|REF_RGD_ID:401950485
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20241219	RGD		associated with morphine withdrawal disorder;protein:decreased expression:hippocampus, prefrontal cortex	PMID:33915201|REF_RGD_ID:401959752
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		associated with opiate dependence;protein:decreased expression:hippocampus	PMID:18262500|REF_RGD_ID:596936231
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2202	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:2202	D	RGD:9068941	20241031	RGD		associated with stress-related disorder	PMID:25442671|REF_RGD_ID:408361837
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:spinal dorsal horn:	PMID:23466809|REF_RGD_ID:8657102
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:fourth lumbar dorsal root ganglion:	PMID:11425916|REF_RGD_ID:8657088
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20250111	RGD			PMID:32822705|REF_RGD_ID:596948433
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001472	Nasal Polyps		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		associated with Sinusitis;protein:decreased expression:respiratory system mucosa	PMID:19958603|REF_RGD_ID:4891064
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:10549664|REF_RGD_ID:8655861
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001733	Tinnitus		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea:	PMID:18524887|REF_RGD_ID:8655535
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9001733	Tinnitus	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:22281446|REF_RGD_ID:8655556
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002031	Frontotemporal Lobar Degeneration		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :196G>A (p.V66M), 11757G>C (human)	PMID:22596272|REF_RGD_ID:10059351
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002031	Frontotemporal Lobar Degeneration	no_association	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2049045 (human)	PMID:22596272|REF_RGD_ID:10059351
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002138	Spinal Cord Reperfusion Injury	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24361987|REF_RGD_ID:10059358
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:20557422|REF_RGD_ID:4891134
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries;	PMID:12435470|REF_RGD_ID:8657101
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;	PMID:12470870|REF_RGD_ID:8657091
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Chronic;	PMID:21499209|REF_RGD_ID:8657093
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries;	PMID:11425916|REF_RGD_ID:8657088
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy;	PMID:10779676|REF_RGD_ID:8657114
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with inflammation;protein:increased expression:dorsal root ganglion:	PMID:21958434|REF_RGD_ID:8657122
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21864655|REF_RGD_ID:8657099
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002669	Hypoxia		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16553631
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:20818776|REF_RGD_ID:4891129
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002704	Leukoencephalopathies	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24322053|REF_RGD_ID:10045369
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		protein:increased expression:hippocampus, prefrontal cortex	PMID:26659122|REF_RGD_ID:596936245
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:731027	D	RGD:9068941	20240530	RGD			PMID:20553781|REF_RGD_ID:405849399
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:23212569|REF_RGD_ID:10059360
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:22723694|REF_RGD_ID:8655575
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression:cochlea:	PMID:19925854|REF_RGD_ID:8636263
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:17275194|REF_RGD_ID:8655559
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:18313855|REF_RGD_ID:10059347
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15372491|PMID:19457078|PMID:19686240|PMID:8921280|PMID:8978711
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9003740	Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:geniculate ganglion:	PMID:19848245|REF_RGD_ID:8655574
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9003740	Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:mylonhyoid nerve:	PMID:23190308|REF_RGD_ID:8657332
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:20554625|REF_RGD_ID:4891135
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:2202	D	RGD:9068941	20240208	RGD		protein:altered expression:brain	PMID:10837897|REF_RGD_ID:401965408
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:2202	D	RGD:9068941	20240229	RGD		protein:altered expression:cerebral cortex	PMID:14604765|REF_RGD_ID:401976539
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004354	Alcohol-Related Disorders	sexual_dimorphism	ISO	RGD:2202	D	RGD:9068941	20240229	RGD		protein:altered expression:frontal cortex,hippocampus,occipital cortex	PMID:18652597|REF_RGD_ID:401976540
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004538	Hearing Loss		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cochlea:	PMID:18524887|REF_RGD_ID:8655535
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004659	Respiration Disorders		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:8757249|REF_RGD_ID:8655536
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004866	Ataxia		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:9712667|REF_RGD_ID:8632994
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9004964	Referred Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:23313710|REF_RGD_ID:8655857
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20240201	RGD		mRNA:increased expression:ventral tegmental area (rat)	PMID:30550948|REF_RGD_ID:401959617
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:32860885|REF_RGD_ID:596936242
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250102	RGD		mRNA, protein:increased expression:amygdala	PMID:26567727|REF_RGD_ID:596936230
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:2202	D	RGD:9068941	20250220	RGD		mRNA:decreased expression:dorsal raphe nucleus	PMID:24055683|REF_RGD_ID:405866344
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005236	Drug Eruptions		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node, ear:	PMID:19904815|REF_RGD_ID:8657071
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		protein:increased expression: trigeminal V ganglion	PMID:20223282|REF_RGD_ID:4891140
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression: trigeminal V ganglion	PMID:20223282|REF_RGD_ID:4891140
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005372	Inflammation		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005587	Starvation		ISO	RGD:2202	D	RGD:9068941	20250215	RGD		mRNA:increased expression:hippocampus, nucleus accumbens (rat)	PMID:31609135|REF_RGD_ID:597805881
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14973246|PMID:17618281|PMID:17651427|PMID:18311559|PMID:19321768|PMID:20711185|PMID:20810894
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders	severity	ISO	RGD:2202	D	RGD:9068941	20210416	RGD			PMID:23583595|REF_RGD_ID:38501054
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005632	Cocaine-Related Disorders	susceptibility	ISO	RGD:2202	D	RGD:9068941	20200814	RGD			PMID:23583595|REF_RGD_ID:38501054
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2202	D	RGD:9068941	20250102	RGD			PMID:24857910|PMID:30816461|REF_RGD_ID:10059399|REF_RGD_ID:596936233
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9005832	Amyloid Plaques		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:15014117|REF_RGD_ID:10059349
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006065	Arthralgia	treatment	ISO	RGD:2202	D	RGD:9068941	20250116	RGD		associated with osteoarthritis	PMID:31479064|REF_RGD_ID:597015765
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion:	PMID:14615047|REF_RGD_ID:8657329
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2202	D	RGD:9068941	20240525	RGD		protein:altered expression:amygdala, pyriform cortex, bed nucleus of stria terminalis	PMID:23588198|REF_RGD_ID:405849391
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006302	Binge Drinking		ISO	RGD:2202	D	RGD:9068941	20250612	RGD		associated with Marchigian Sardinian alcohol-preferring rats; mRNA: increased expression:amygdala	PMID:33671048|REF_RGD_ID:616390065
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:10235	D	RGD:9068941	20250104	RGD			PMID:30232930|PMID:32564283|REF_RGD_ID:596936243|REF_RGD_ID:596936414
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:29065194|PMID:29571823|PMID:33324197|PMID:34964700|REF_RGD_ID:401959211|REF_RGD_ID:401965400|REF_RGD_ID:405850212|REF_RGD_ID:596933096
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:731027	D	RGD:9068941	20240229	RGD		associated with brain ischemia	PMID:29599834|REF_RGD_ID:401976548
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006604	Anhedonia	treatment	ISO	RGD:2202	D	RGD:9068941	20250111	RGD		associated with sciatic neuropathy	PMID:29882089|REF_RGD_ID:596948432
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:11935372|REF_RGD_ID:1580935
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2202	D	RGD:9068941	20250308	RGD		mRNA:increased expression:hippocampus	PMID:22826223|REF_RGD_ID:597830152
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:17041593|REF_RGD_ID:596933097
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007204	Dysbiosis		ISO	RGD:10235	D	RGD:9068941	20250104	RGD		associated with alcohol dependence;mRNA:decreased expression:hippocampus, prefrontal cortex	PMID:30417952|REF_RGD_ID:596938163
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007402	Gliosis		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21087489
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007480	Hyperoxia		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:15821016|REF_RGD_ID:4891113
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007633	Body Weight		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9007980	Sleep Deprivation	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:25450575|REF_RGD_ID:10059355
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:2202	D	RGD:9068941	20250724	RGD		associated with alcohol use disorder;mRNA,protein:decreased expression:hippocampus	PMID:34427953|REF_RGD_ID:401959600
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders		ISO	RGD:731027	D	RGD:9068941	20250724	RGD		associated with alcohol use disorder; protein:decreased expression:plasma (human)	PMID:30277635|REF_RGD_ID:401938665
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:10235	D	RGD:9068941	20240104	RGD			PMID:29157831|REF_RGD_ID:401940181
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20240201	RGD			PMID:29704550|REF_RGD_ID:401960858
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20240201	RGD		associated with Subarachnoid Hemorrhage	PMID:26822402|REF_RGD_ID:401960859
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD		associated with Sleep Deprivation	PMID:32157827|REF_RGD_ID:596948421
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:9520478|REF_RGD_ID:8655637
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:11050383|REF_RGD_ID:8655586
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008091	Optic Nerve Injuries	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:15140649|REF_RGD_ID:8655584
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008103	Seasonal Allergic Rhinitis	severity	ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, nasal cavity epithelium	PMID:18266897|REF_RGD_ID:5144117
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008520	Chronic Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:anterior cingulate cortex	PMID:24518228|REF_RGD_ID:10059366
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008520	Chronic Pain		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		protein:increased expression:frontal cortex, neuron	PMID:11360665|REF_RGD_ID:5684922
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet, serum	PMID:17317133|REF_RGD_ID:4891069
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008681	Deafness		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18607918|PMID:19365690
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008681	Deafness	treatment	ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:23150788|REF_RGD_ID:8655576
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008681	Deafness	treatment	ISO	RGD:731027	D	RGD:9068941	20200609	RGD			PMID:21452221|REF_RGD_ID:8639313
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008820	Visceral Pain		ISO	RGD:10235	D	RGD:9068941	20200609	RGD			PMID:21997550|REF_RGD_ID:8655978
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9008820	Visceral Pain		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		associated with Colitis; protein:increased expression:dorsal root ganglion:	PMID:19932037|REF_RGD_ID:8657331
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:17151862|REF_RGD_ID:10059350
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9427	hypertensive encephalopathy	treatment	ISO	RGD:2202	D	RGD:9068941	20200609	RGD			PMID:24730417|REF_RGD_ID:10059400
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9470	bacterial meningitis		ISO	RGD:10235	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus	PMID:16141791|REF_RGD_ID:5684920
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9470	bacterial meningitis		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus,cerebral cortex:	PMID:22683802|REF_RGD_ID:8655554
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9505	cannabis abuse		ISO	RGD:2202	D	RGD:9068941	20250118	RGD		protein:decreased expression:frontal cortex, hippocampus	PMID:22083592|REF_RGD_ID:597015776
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:decreased expression:photoreceptor outer segment layer:	PMID:18405896|REF_RGD_ID:8655629
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9743	diabetic neuropathy		ISO	RGD:2202	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:20557422|REF_RGD_ID:4891134
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9743	diabetic neuropathy	treatment	ISO	RGD:2202	D	RGD:9068941	20250109	RGD		associated with Experimental Diabetes Mellitus	PMID:31601968|REF_RGD_ID:596948419
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa,intestinal intestine:	PMID:21997550|REF_RGD_ID:8655978
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:987	alopecia		ISO	RGD:731027	D	RGD:9068941	20200609	RGD		protein:increased expression:dermal papilla:	PMID:21729031|REF_RGD_ID:8657081
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9970	obesity		ISO	RGD:731027	D	RGD:9068941	20250724	RGD		protein:decreased expression:plasma	PMID:17151862|REF_RGD_ID:10059350
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9970	obesity		ISO	RGD:731027	D	RGD:9068941	20251106	RGD		associated with gestational diabetes mellitus; DNA:SNP: :rs6265	PMID:33145279|REF_RGD_ID:629006597
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9975	cocaine dependence		ISO	RGD:2202	D	RGD:9068941	20241219	RGD			PMID:18990365|REF_RGD_ID:596933098
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9975	cocaine dependence		ISO	RGD:731027	D	RGD:9068941	20240203	RGD			PMID:14973246|REF_RGD_ID:401965389
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9976	heroin dependence		ISO	RGD:731027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17715210
12124498	BDNF	brain derived neurotrophic factor	gene	DOID:9976	heroin dependence		ISO	RGD:731027	D	RGD:9068941	20240222	RGD		protein:decreased expression:serum	PMID:17715210|REF_RGD_ID:401976440
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:0051061	stroke		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:9472898|REF_RGD_ID:2290356
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080207	congenital anomalies of the kidney and urinary tract 2	treatment	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:27448803|REF_RGD_ID:13204792
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:621675	D	RGD:9068941	20240727	RGD			PMID:33315911|REF_RGD_ID:407420266
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1347215	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10588	adrenoleukodystrophy	severity	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:23185624|REF_RGD_ID:13204814
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:placenta	PMID:17083831|REF_RGD_ID:2290399
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:19506087|REF_RGD_ID:2312464
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10763	hypertension		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17977875|REF_RGD_ID:2290351
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10808	gastric ulcer		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach	PMID:15375341|REF_RGD_ID:10043177
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:17569872|REF_RGD_ID:2290352
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:114	heart disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23558518
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:114	heart disease		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expression:heart	PMID:19134282|REF_RGD_ID:2312465
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:13378	Kawasaki disease		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:12626459|REF_RGD_ID:1580170
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:13580	cholestasis		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:8707259|REF_RGD_ID:2290364
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:14250	Down syndrome		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:24519975|REF_RGD_ID:13204810
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:25545245|REF_RGD_ID:13204794
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:breast	PMID:17114213|PMID:17478562|REF_RGD_ID:2290345|REF_RGD_ID:2290348
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18172859|REF_RGD_ID:2290343
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:178	vascular disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569694
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:178	vascular disease		ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:17569694|REF_RGD_ID:2290353
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:182	calcinosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:731433	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2006	preretinal fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:11004090|REF_RGD_ID:2312481
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2378	relapsing-remitting multiple sclerosis	treatment	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:16412833|REF_RGD_ID:13204825
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17695443|REF_RGD_ID:2298520
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16901349|REF_RGD_ID:2290349
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:12487935|REF_RGD_ID:2298523
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:25842729|REF_RGD_ID:13207319
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21468558
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:23318412|REF_RGD_ID:13204970
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:4079	heart valve disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:417	autoimmune disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:11595703|REF_RGD_ID:2290350
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:6000	congestive heart failure		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:799	varicose veins		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:893	Wilson disease		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26241054
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:90	degenerative disc disease	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency	PMID:19063844|REF_RGD_ID:10043178
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	PMID:12487935|REF_RGD_ID:2298523
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;protein:increased expression:plasma	PMID:17407159|REF_RGD_ID:2290346
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, astrocytes	PMID:10719361|REF_RGD_ID:2290468
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16507762|PMID:16718785|PMID:16762003|PMID:21163135|PMID:25380136
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:8707259|REF_RGD_ID:2290364
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:dorsal root ganglion	PMID:16683235|REF_RGD_ID:1600154
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:621675	D	RGD:9068941	20230803	RGD			PMID:16141011|REF_RGD_ID:401717565
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9002739	Female Urogenital Diseases		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16002989
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9002884	Emphysema	treatment	ISO	RGD:621675	D	RGD:9068941	20200609	RGD			PMID:22633097|REF_RGD_ID:13207325
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1318976
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005372	Inflammation		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569694
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21963884
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD			PMID:17192464|REF_RGD_ID:2312467
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17569353|REF_RGD_ID:2290354
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21051829
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:621675	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15128910|REF_RGD_ID:8547972
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:731433	D	RGD:9068941	20200609	RGD			PMID:24739303|REF_RGD_ID:13204791
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:19506087|REF_RGD_ID:2312464
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16023759
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16005367|REF_RGD_ID:1580148
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9446	cholangitis		ISO	RGD:1347215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17020653|REF_RGD_ID:2312468
12124520	TIMP1	TIMP metallopeptidase inhibitor 1	gene	DOID:9970	obesity		ISO	RGD:1347215	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17512313|REF_RGD_ID:1642026
12124530	MEIS1	Meis homeobox 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17637780|PMID:28604731
12124530	MEIS1	Meis homeobox 1	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1550525	D	RGD:9068941	20240801	MouseDO			
12124530	MEIS1	Meis homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:114	heart disease		ISO	RGD:1315277	D	RGD:9068941	20221027	RGD		mRNA, protein:decreased expression:heart (human)	PMID:26597775|REF_RGD_ID:11554891
12124530	MEIS1	Meis homeobox 1	gene	DOID:1324	lung cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124530	MEIS1	Meis homeobox 1	gene	DOID:13938	amenorrhea		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868
12124530	MEIS1	Meis homeobox 1	gene	DOID:1909	melanoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12124530	MEIS1	Meis homeobox 1	gene	DOID:3275	thymoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124530	MEIS1	Meis homeobox 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12124530	MEIS1	Meis homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1315277	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124530	MEIS1	Meis homeobox 1	gene	DOID:5394	prolactinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroprolactinoma	PMID:25741868
12124530	MEIS1	Meis homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124530	MEIS1	Meis homeobox 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1550525	D	RGD:9068941	20221027	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:26597775|REF_RGD_ID:11554891
12124530	MEIS1	Meis homeobox 1	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28604731
12124530	MEIS1	Meis homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124530	MEIS1	Meis homeobox 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1315277	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19776672
12124530	MEIS1	Meis homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315277	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350264	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124546	PSIP1	PC4 and SFRS1 interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350264	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17330099
12124571	STK31	serine/threonine kinase 31	gene	DOID:10534	stomach cancer		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124571	STK31	serine/threonine kinase 31	gene	DOID:1115	sarcoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:1909	melanoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:2394	ovarian cancer		ISO	RGD:1606534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12124571	STK31	serine/threonine kinase 31	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124571	STK31	serine/threonine kinase 31	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606534	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124571	STK31	serine/threonine kinase 31	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124610	EXOC3	exocyst complex component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124610	EXOC3	exocyst complex component 3	gene	DOID:1324	lung cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124610	EXOC3	exocyst complex component 3	gene	DOID:1909	melanoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124610	EXOC3	exocyst complex component 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344149	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124610	EXOC3	exocyst complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1344149	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344149	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12124610	EXOC3	exocyst complex component 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344149	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:1909	melanoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320784	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124627	CWF19L2	CWF19 like cell cycle control factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320784	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124652	FOCAD	focadhesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124652	FOCAD	focadhesin	gene	DOID:10534	stomach cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124652	FOCAD	focadhesin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124652	FOCAD	focadhesin	gene	DOID:1115	sarcoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124652	FOCAD	focadhesin	gene	DOID:1324	lung cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12124652	FOCAD	focadhesin	gene	DOID:1909	melanoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124652	FOCAD	focadhesin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124652	FOCAD	focadhesin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12124652	FOCAD	focadhesin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12124652	FOCAD	focadhesin	gene	DOID:4362	cervical cancer		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124652	FOCAD	focadhesin	gene	DOID:5041	esophageal cancer		ISO	RGD:1352316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124652	FOCAD	focadhesin	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352316	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35864190
12124652	FOCAD	focadhesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124652	FOCAD	focadhesin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124652	FOCAD	focadhesin	gene	DOID:630	genetic disease		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12124652	FOCAD	focadhesin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12124652	FOCAD	focadhesin	gene	DOID:9005712	Severe Congenital Liver Disease		ISO	RGD:1352316	D	RGD:7240710	20220831	OMIM			
12124652	FOCAD	focadhesin	gene	DOID:9005712	Severe Congenital Liver Disease		ISO	RGD:1352316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FOCAD-related condition | ClinVar Annotator: match by term: LIVER DISEASE, SEVERE CONGENITAL | ClinVar Annotator: match by term: Liver disease, severe congenital	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:9536098
12124652	FOCAD	focadhesin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124652	FOCAD	focadhesin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1315525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29718361
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1315525	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:25741868
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:13580	cholestasis		ISO	RGD:1315525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:4362	cervical cancer		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650968|PMID:25380136
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1315525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25641190
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1315525	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12124705	ALDH1B1	aldehyde dehydrogenase 1 family member B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315525	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0050730	coenzyme Q10 deficiency disease		ISO	RGD:1615065	D	RGD:9068941	20260604	MouseDO		OMIM:607426 | OMIM:612016 | OMIM:614650 | OMIM:614651 | OMIM:614652 | OMIM:614654	
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0070240	primary coenzyme Q10 deficiency 3		ISO	RGD:1353926	D	RGD:7240710	20180130	OMIM			
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:0070240	primary coenzyme Q10 deficiency 3		ISO	RGD:1353926	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coenzyme Q10 deficiency, primary, 3 | ClinVar Annotator: match by term: PDSS2-related condition	PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1353926	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:17186472|PMID:17374725|PMID:19096106|PMID:20689595|PMID:23816342|PMID:25349199|PMID:25741868|PMID:28492532|PMID:29127259
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353926	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28492532
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1353926	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12124719	PDSS2	decaprenyl diphosphate synthase subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124747	CDH19	cadherin 19	gene	DOID:10534	stomach cancer		ISO	RGD:1316200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124747	CDH19	cadherin 19	gene	DOID:1909	melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124747	CDH19	cadherin 19	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124747	CDH19	cadherin 19	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12124747	CDH19	cadherin 19	gene	DOID:6039	uveal melanoma		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12124747	CDH19	cadherin 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124774	EMP3	epithelial membrane protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124774	EMP3	epithelial membrane protein 3	gene	DOID:1115	sarcoma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124774	EMP3	epithelial membrane protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12124774	EMP3	epithelial membrane protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124774	EMP3	epithelial membrane protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422
12124774	EMP3	epithelial membrane protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731841	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:17549345
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:0050742	nicotine dependence		ISO	RGD:1343424	D	RGD:7240710	20251126	OMIM			
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:0080665	warfarin resistance		ISO	RGD:1343424	D	RGD:7240710	20251126	OMIM			
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:0080665	warfarin resistance		ISO	RGD:1343424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COUMARIN, POOR METABOLISM OF	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:10534	stomach cancer		ISO	RGD:1343424	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:1324	lung cancer		ISO	RGD:1343424	D	RGD:7240710	20251126	OMIM			
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:1324	lung cancer		ISO	RGD:1343424	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LUNG CANCER, PROTECTION AGAINST	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:13768	opisthorchiasis		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:8896890
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:1883	hepatitis C		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:8864187
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:2043	hepatitis B		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:8864187
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:299	adenocarcinoma		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:12115524
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:11241319
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:4362	cervical cancer		ISO	RGD:1343424	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:4552	large cell carcinoma		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:17549345
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1343424	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:12115524|PMID:21364592
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9000918	Disease Progression		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364592
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:8896890
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343424	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:10441482|PMID:11241319|PMID:12214673|PMID:16176798|PMID:17549345|PMID:26132489
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:16377082
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:21741958
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:17683511
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1343424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:936	brain disease		ISO	RGD:1343424	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:22498344
12124799	CYP2A7	cytochrome P450, family 2, subfamily A, polypeptide 7	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1343424	D	RGD:9068941	20201203	CTD		CTD Direct Evidence: marker/mechanism	PMID:12832682
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:737421	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrioventricular Septal Defect	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:0060058	lymphoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:10534	stomach cancer		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:1115	sarcoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:1909	melanoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:289	endometriosis		ISO	RGD:737421	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:737421	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737421	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124860	NR1D2	nuclear receptor subfamily 1 group D member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:10874303|PMID:12065289|PMID:25741868|PMID:28492532|PMID:29450569
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:7240710	20180130	OMIM			
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:0090117	thiamine-responsive megaloblastic anemia syndrome		ISO	RGD:1318484	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | ClinVar Annotator: match by term: SLC19A2-related condition | ClinVar Annotator: match by term: THIAMINE METABOLISM DYSFUNCTION SYNDROME 1 (MEGALOBLASTIC ANEMIA, DIABETES MELLITUS, AND DEAFNESS TYPE) | ClinVar Annotator: match by term: THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME | ClinVar Annotator: match by term: Thiamine-responsive megaloblastic anemia syndrome	PMID:10391221|PMID:10391223|PMID:10874303|PMID:12065289|PMID:12435857|PMID:14994241|PMID:16199547|PMID:17132746|PMID:17331069|PMID:17463047|PMID:19643445|PMID:23638917|PMID:25741868|PMID:26467025|PMID:28004468|PMID:28492532|PMID:29450569|PMID:33409956|PMID:33649974|PMID:33816400|PMID:9856490
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:12270	coloboma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:10391221|PMID:10391223|PMID:10874303|PMID:16199547|PMID:19643445|PMID:25741868|PMID:28492532
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:23638917|PMID:25741868|PMID:28492532|PMID:29450569
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:13550	angle-closure glaucoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angle-closure glaucoma	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:480	movement disease		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318484	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:5723	optic atrophy		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:630	genetic disease		ISO	RGD:1318484	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19643445|PMID:25741868|PMID:28492532
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:784	chronic kidney disease		ISO	RGD:1308611	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, heart (rat)	PMID:21149507|REF_RGD_ID:7327184
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:83	cataract		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9008681	Deafness		ISO	RGD:1318484	D	RGD:9068941	20200609	RGD			PMID:10391221|REF_RGD_ID:1599325
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:19643445|PMID:25741868|PMID:28004468|PMID:28492532|PMID:33649974
12124877	SLC19A2	solute carrier family 19 member 2	gene	DOID:9834	hyperopia		ISO	RGD:1318484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:0070347	encephalopathy due to defective mitochondrial and peroxisomal fission 1		ISO	RGD:1319316	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	PMID:25741868
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:10534	stomach cancer		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:1059	intellectual disability		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:1824	status epilepticus		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:1909	melanoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:2234	focal epilepsy		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:4362	cervical cancer		ISO	RGD:1319316	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319316	D	RGD:9068941	20210129	RGD		mRNA:increased expression:blood	PMID:21763455|REF_RGD_ID:41404644
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1319316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124887	OSBPL7	oxysterol binding protein like 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124922	LCN6	lipocalin 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124922	LCN6	lipocalin 6	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1349815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12124922	LCN6	lipocalin 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124922	LCN6	lipocalin 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124922	LCN6	lipocalin 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124931	TRIM7	tripartite motif containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124931	TRIM7	tripartite motif containing 7	gene	DOID:0080600	COVID-19		ISO	RGD:1316458	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12124931	TRIM7	tripartite motif containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124931	TRIM7	tripartite motif containing 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124931	TRIM7	tripartite motif containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:0060058	lymphoma		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1344834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124953	PLPP1	phospholipid phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12124979	C15H1orf216	chromosome 15 C1orf216 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69460	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:305	carcinoma		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12606953
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12124991	RASGRF2	Ras protein specific guanine nucleotide releasing factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:69460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:0110160	Charcot-Marie-Tooth disease axonal type 2T		ISO	RGD:1318848	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2t	PMID:24088041|PMID:26633545
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5		ISO	RGD:1318848	D	RGD:7240710	20180130	OMIM			
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:0111214	autosomal recessive distal hereditary motor neuronopathy 5		ISO	RGD:1318848	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 5 | ClinVar Annotator: match by term: Spinal muscular atrophy, distal, autosomal recessive, 5 | ClinVar Annotator: match by term: Young adult-onset distal hereditary motor neuropathy	PMID:16199547|PMID:17576681|PMID:22522442|PMID:24627108|PMID:25274842|PMID:25741868|PMID:26257172|PMID:27449489|PMID:28492532|PMID:9536098
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1318848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:1324	lung cancer		ISO	RGD:1318848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1318848	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:630	genetic disease		ISO	RGD:1318848	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:22522442|PMID:25274842|PMID:25741868|PMID:28492532
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318848	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125026	DNAJB2	DnaJ heat shock protein family (Hsp40) member B2	gene	DOID:9256	colorectal cancer		ISO	RGD:1318848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12125055	MIR1-1	microRNA mir-1-1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1346542	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12125055	MIR1-1	microRNA mir-1-1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1615489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23761296
12125055	MIR1-1	microRNA mir-1-1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346542	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30125006
12125177	ANAPC10	anaphase promoting complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125177	ANAPC10	anaphase promoting complex subunit 10	gene	DOID:0112178	Mayer-Rokitansky-Kuster-Hauser syndrome type 1		ISO	RGD:1318993	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Mayer Rokitansky Kuster Hauser syndrome type 1	PMID:25741868
12125177	ANAPC10	anaphase promoting complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318993	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125216	LOC480492	lysozyme-like protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125216	LOC480492	lysozyme-like protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125216	LOC480492	lysozyme-like protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:7240710	20180130	OMIM			
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080496	ovarian dysgenesis 4		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MCM9-related condition | ClinVar Annotator: match by term: OVARIAN DYSGENESIS 4	PMID:28492532
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:0080857	primary ovarian insufficiency 1		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 1	PMID:25741868
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1115	sarcoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:11476	osteoporosis		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:31042289
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1324	lung cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1909	melanoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:1924	hypogonadism		ISO	RGD:1313696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:31042289
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1313696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:630	genetic disease		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125225	MCM9	minichromosome maintenance 9 homologous recombination repair factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1313696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12125243	SDR39U1	short chain dehydrogenase/reductase family 39U member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125243	SDR39U1	short chain dehydrogenase/reductase family 39U member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125243	SDR39U1	short chain dehydrogenase/reductase family 39U member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125243	SDR39U1	short chain dehydrogenase/reductase family 39U member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:0070737	multiple mitochondrial dysfunctions syndrome 10		ISO	RGD:1354495	D	RGD:7240710	20241009	OMIM			
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:0070737	multiple mitochondrial dysfunctions syndrome 10		ISO	RGD:1354495	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 10 | ClinVar Annotator: match by term: Multiple mitochondrial dysfunctions syndrome 10	PMID:25741868
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:3070	high grade glioma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12125284	CIAO1	cytosolic iron-sulfur assembly component 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1354495	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:26267327|PMID:26467025|PMID:28492532|PMID:33051659|PMID:33219105
12125295	PAIP2B	poly(A) binding protein interacting protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125295	PAIP2B	poly(A) binding protein interacting protein 2B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12125295	PAIP2B	poly(A) binding protein interacting protein 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605487	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:0070581	spermatogenic failure 82		ISO	RGD:1348905	D	RGD:7240710	20230505	OMIM			
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:0070581	spermatogenic failure 82		ISO	RGD:1348905	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 82 | ClinVar Annotator: match by term: Spermatogenic failure 82	PMID:25741868
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:1909	melanoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:3275	thymoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125313	AKAP3	A-kinase anchoring protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:1115	sarcoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:1324	lung cancer		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:3275	thymoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:4362	cervical cancer		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:5041	esophageal cancer		ISO	RGD:1354311	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125332	MMS19	MMS19 homolog, cytosolic iron-sulfur assembly component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:0051061	stroke		ISO	RGD:727920	D	RGD:9068941	20200609	RGD			PMID:11489260|REF_RGD_ID:631971
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:2394	ovarian cancer		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:3275	thymoma		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:4362	cervical cancer		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:5041	esophageal cancer		ISO	RGD:1348478	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348478	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125378	NOSTRIN	nitric oxide synthase trafficking	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125415	HIBADH	3-hydroxyisobutyrate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1351780	D	RGD:9068941	20200609	RGD			PMID:16098202|REF_RGD_ID:10401651
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:1115	sarcoma		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:1324	lung cancer		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:3275	thymoma		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1351780	D	RGD:9068941	20220804	RGD		Human cells in mouse model	PMID:30522114|REF_RGD_ID:153298964
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1351780	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125427	EEF2K	eukaryotic elongation factor 2 kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351780	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125475	CAPN2	calpain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125475	CAPN2	calpain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125475	CAPN2	calpain 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2268	D	RGD:9068941	20200609	RGD			PMID:9469158|REF_RGD_ID:13792664
12125475	CAPN2	calpain 2	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:2268	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
12125475	CAPN2	calpain 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732800	D	RGD:9068941	20200609	RGD		protein:increased expression:cytosol	PMID:9654354|REF_RGD_ID:13792661
12125475	CAPN2	calpain 2	gene	DOID:1115	sarcoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125475	CAPN2	calpain 2	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2268	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle tissue of tibialis anterior	PMID:24745757|REF_RGD_ID:13792589
12125475	CAPN2	calpain 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2268	D	RGD:9068941	20200609	RGD		protein:increased expression, activity:nucleus	PMID:25820375|REF_RGD_ID:13792650
12125475	CAPN2	calpain 2	gene	DOID:1561	cognitive disorder		ISO	RGD:732800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:31672664
12125475	CAPN2	calpain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125475	CAPN2	calpain 2	gene	DOID:3275	thymoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125475	CAPN2	calpain 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12125475	CAPN2	calpain 2	gene	DOID:4362	cervical cancer		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125475	CAPN2	calpain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125475	CAPN2	calpain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125475	CAPN2	calpain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125475	CAPN2	calpain 2	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2268	D	RGD:9068941	20200609	RGD			PMID:25150005|REF_RGD_ID:13792585
12125475	CAPN2	calpain 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2268	D	RGD:9068941	20200609	RGD		associated with Peripheral Nerve Injuries	PMID:25150005|REF_RGD_ID:13792585
12125475	CAPN2	calpain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125475	CAPN2	calpain 2	gene	DOID:9007659	Anthracycline-induced Cardiotoxicity	treatment	ISO	RGD:2268	D	RGD:9068941	20200609	RGD			PMID:25634181|REF_RGD_ID:13792617
12125475	CAPN2	calpain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125475	CAPN2	calpain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125475	CAPN2	calpain 2	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:732800	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: marker/mechanism	PMID:37663545
12125499	FBXO11	F-box protein 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125499	FBXO11	F-box protein 11	gene	DOID:0060058	lymphoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12125499	FBXO11	F-box protein 11	gene	DOID:0061129	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		ISO	RGD:1348534	D	RGD:7240710	20190315	OMIM			
12125499	FBXO11	F-box protein 11	gene	DOID:0061129	intellectual developmental disorder with dysmorphic facies and behavioral abnormalities		ISO	RGD:1348534	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FBXO11-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities | ClinVar Annotator: match by term: intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	PMID:16199547|PMID:17576681|PMID:25741868|PMID:27620904|PMID:28492532|PMID:29796876|PMID:30057029|PMID:30679813|PMID:34505148|PMID:9536098
12125499	FBXO11	F-box protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125499	FBXO11	F-box protein 11	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1348534	D	RGD:9068941	20220505	RGD		mRNA, protein:increased expression:stomach (human)	PMID:29278851|REF_RGD_ID:152025260
12125499	FBXO11	F-box protein 11	gene	DOID:1059	intellectual disability		ISO	RGD:1348534	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12125499	FBXO11	F-box protein 11	gene	DOID:10754	otitis media		ISO	RGD:1553509	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12125499	FBXO11	F-box protein 11	gene	DOID:1115	sarcoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125499	FBXO11	F-box protein 11	gene	DOID:2043	hepatitis B		ISO	RGD:1348534	D	RGD:9068941	20220505	RGD		associated with hepatocellular carcinoma;protein:increased expression:liver (human)	PMID:29603830|REF_RGD_ID:152025266
12125499	FBXO11	F-box protein 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125499	FBXO11	F-box protein 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12125499	FBXO11	F-box protein 11	gene	DOID:3459	breast carcinoma	ameliorates	ISO	RGD:1348534	D	RGD:9068941	20220505	RGD		human constructs and cell line in a mouse model	PMID:25203322|REF_RGD_ID:152025262
12125499	FBXO11	F-box protein 11	gene	DOID:3883	Lynch syndrome		ISO	RGD:127271612	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:18269114|PMID:24323032|PMID:24362816|PMID:28135145|PMID:28492532
12125499	FBXO11	F-box protein 11	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1348534	D	RGD:9068941	20220505	RGD			PMID:31778188|REF_RGD_ID:152025265
12125499	FBXO11	F-box protein 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125499	FBXO11	F-box protein 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1348534	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:12376507|PMID:18809606|PMID:19924528|PMID:20176959|PMID:22283331|PMID:24710284|PMID:24728327|PMID:25536104|PMID:25741868|PMID:26046366|PMID:26467025|PMID:28492532|PMID:9354786
12125499	FBXO11	F-box protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125499	FBXO11	F-box protein 11	gene	DOID:630	genetic disease		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:30679813
12125499	FBXO11	F-box protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125499	FBXO11	F-box protein 11	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1348534	D	RGD:9068941	20220505	RGD		mRNA:increased expression:liver (human)	PMID:29518611|REF_RGD_ID:152025259
12125499	FBXO11	F-box protein 11	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1348534	D	RGD:9068941	20220505	RGD		protein:increased expression:liver (human)	PMID:29603830|REF_RGD_ID:152025266
12125499	FBXO11	F-box protein 11	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12125499	FBXO11	F-box protein 11	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348534	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental Disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12125499	FBXO11	F-box protein 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:12738471	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868|PMID:28492532
12125499	FBXO11	F-box protein 11	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:8591823	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:19250818|PMID:24689082|PMID:25741868|PMID:26467025|PMID:28492532
12125499	FBXO11	F-box protein 11	gene	DOID:9008582	Developmental Disease		ISO	RGD:1348534	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868|PMID:28492532
12125499	FBXO11	F-box protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125499	FBXO11	F-box protein 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125499	FBXO11	F-box protein 11	gene	DOID:9970	obesity		ISO	RGD:1348534	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity	
12125525	TPM2	tropomyosin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125525	TPM2	tropomyosin 2	gene	DOID:0060260	ptosis		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:0080102	congenital myopathy 4A		ISO	RGD:1605428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital myopathy with fiber type disproportion	PMID:25741868
12125525	TPM2	tropomyosin 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605428	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12125525	TPM2	tropomyosin 2	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
12125525	TPM2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:7240710	20180130	OMIM			
12125525	TPM2	tropomyosin 2	gene	DOID:0110932	congenital myopathy 23		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 23 | ClinVar Annotator: match by term: Congenital myopathy 23 | ClinVar Annotator: match by term: Nemaline myopathy 4, autosomal dominant | ClinVar Annotator: match by term: TPM2-related cap myopathy	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:22832343|PMID:23401156|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27854218|PMID:28492532|PMID:28881016|PMID:31966463|PMID:33060286|PMID:34008892|PMID:35052370|PMID:35579956|PMID:38071834
12125525	TPM2	tropomyosin 2	gene	DOID:0111596	distal arthrogryposis type 1		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE I | ClinVar Annotator: match by term: Digitotalar dysmorphism	PMID:11738357|PMID:17339586|PMID:17430991|PMID:18789687|PMID:19155175|PMID:20301436|PMID:22084935|PMID:23678273|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:28881016|PMID:29068549|PMID:32092148
12125525	TPM2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:7240710	20180130	OMIM			
12125525	TPM2	tropomyosin 2	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A | ClinVar Annotator: match by term: Distal arthrogryposis type 1A	PMID:16199547|PMID:17339586|PMID:17430991|PMID:17576681|PMID:19047562|PMID:19155175|PMID:22749895|PMID:22832343|PMID:22980765|PMID:23401156|PMID:23678273|PMID:23886664|PMID:24039757|PMID:24214167|PMID:24692096|PMID:25741868|PMID:27726070|PMID:28492532|PMID:29068549|PMID:31966463|PMID:32092148|PMID:33060286|PMID:35052370|PMID:35579956|PMID:38071834|PMID:9536098
12125525	TPM2	tropomyosin 2	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B	PMID:25741868
12125525	TPM2	tropomyosin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125525	TPM2	tropomyosin 2	gene	DOID:10907	microcephaly		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:11836	clubfoot		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:3191	nemaline myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nemaline myopathy	PMID:25741868
12125525	TPM2	tropomyosin 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1605428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12125525	TPM2	tropomyosin 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12125525	TPM2	tropomyosin 2	gene	DOID:423	myopathy		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:540	strabismus		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125525	TPM2	tropomyosin 2	gene	DOID:630	genetic disease		ISO	RGD:1605428	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11738357|PMID:18789687|PMID:20301436|PMID:22084935|PMID:23689010|PMID:23886664|PMID:24657080|PMID:24692096|PMID:25741868|PMID:28492532|PMID:28881016|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:9001483	Distal Arthrogryposis Type 2B4		ISO	RGD:1605428	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS, DISTAL, TYPE 2B4 | ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B4	PMID:17339586|PMID:17430991|PMID:23678273|PMID:23886664|PMID:24692096|PMID:25741868|PMID:28492532|PMID:29068549|PMID:32092148
12125525	TPM2	tropomyosin 2	gene	DOID:9001581	Constipation		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
12125525	TPM2	tropomyosin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125525	TPM2	tropomyosin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12125525	TPM2	tropomyosin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125525	TPM2	tropomyosin 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1605428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:22832343|PMID:25741868|PMID:28492532|PMID:31966463|PMID:33060286|PMID:35052370|PMID:35579956
12125544	LRFN2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323494	D	RGD:9068941	20220825	MouseDO			
12125544	LRFN2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125544	LRFN2	leucine rich repeat and fibronectin type III domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125552	PSCA	prostate stem cell antigen	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321185	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125552	PSCA	prostate stem cell antigen	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
12125552	PSCA	prostate stem cell antigen	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648920|PMID:20083643
12125552	PSCA	prostate stem cell antigen	gene	DOID:1115	sarcoma		ISO	RGD:1321185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125552	PSCA	prostate stem cell antigen	gene	DOID:1724	duodenal ulcer		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22387998
12125552	PSCA	prostate stem cell antigen	gene	DOID:4023	linitis plastica		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488030
12125552	PSCA	prostate stem cell antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321185	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125552	PSCA	prostate stem cell antigen	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488030|PMID:26098866
12125552	PSCA	prostate stem cell antigen	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16015594
12125552	PSCA	prostate stem cell antigen	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1321185	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28220687
12125560	CNN1	calponin 1	gene	DOID:1324	lung cancer		ISO	RGD:731921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125560	CNN1	calponin 1	gene	DOID:3275	thymoma		ISO	RGD:731921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125560	CNN1	calponin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12125560	CNN1	calponin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125560	CNN1	calponin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731921	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125581	ENC1	ectodermal-neural cortex 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125581	ENC1	ectodermal-neural cortex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125581	ENC1	ectodermal-neural cortex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125581	ENC1	ectodermal-neural cortex 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12125581	ENC1	ectodermal-neural cortex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0060058	lymphoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:0080600	COVID-19		ISO	RGD:1312170	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1115	sarcoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1324	lung cancer		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:1909	melanoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:3275	thymoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312170	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6039	uveal melanoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9003566	Mesothelioma		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12125587	MAP3K6	mitogen-activated protein kinase kinase kinase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125620	INTS14	integrator complex subunit 14	gene	DOID:10534	stomach cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125620	INTS14	integrator complex subunit 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125620	INTS14	integrator complex subunit 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125620	INTS14	integrator complex subunit 14	gene	DOID:3275	thymoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125620	INTS14	integrator complex subunit 14	gene	DOID:4362	cervical cancer		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125620	INTS14	integrator complex subunit 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1604589	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125620	INTS14	integrator complex subunit 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125620	INTS14	integrator complex subunit 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125620	INTS14	integrator complex subunit 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:1115	sarcoma		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		protein:increased expression:intervertebral disk	PMID:23192728|REF_RGD_ID:10043113
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:1324	lung cancer		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		protein:alternative form:synovium	PMID:11801682|REF_RGD_ID:10043106
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.R614H (human)	PMID:22961118|REF_RGD_ID:10043102
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		protein:alternative form:synovium	PMID:11801682|REF_RGD_ID:10043106
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:23982761|REF_RGD_ID:10043101
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:17530714|REF_RGD_ID:2300093
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:23954517|REF_RGD_ID:10043107
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	no_association	ISO	RGD:1343923	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon: (rs226794, rs2830585) (human)	PMID:18240210|REF_RGD_ID:10043105
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD			PMID:22084394|REF_RGD_ID:10003165
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD		associated with Bone Diseases, Metabolic	PMID:22432033|REF_RGD_ID:10043110
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:735196	D	RGD:9068941	20200609	RGD			PMID:23546441|REF_RGD_ID:10043103
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:90	degenerative disc disease		ISO	RGD:735196	D	RGD:9068941	20200609	RGD			PMID:22394620|REF_RGD_ID:10043115
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:90	degenerative disc disease		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intervertebral disk of cervical vertebra	PMID:20948465|REF_RGD_ID:8661231
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:735196	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:22670655|REF_RGD_ID:10043109
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006281	Temporomandibular Joint Disorders		ISO	RGD:1343923	D	RGD:9068941	20200609	RGD			PMID:18830934|REF_RGD_ID:10043108
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9006281	Temporomandibular Joint Disorders	severity	ISO	RGD:1552871	D	RGD:9068941	20200609	RGD		mRNA:increased expression:temporomandibular joint	PMID:24316289|REF_RGD_ID:10043104
12125643	ADAMTS5	ADAM metallopeptidase with thrombospondin type 1 motif 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125654	ST8SIA4	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:1324	lung cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:1909	melanoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125666	ELMO3	engulfment and cell motility 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312348	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313418	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313418	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125697	ZCWPW1	zinc finger CW-type and PWWP domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313418	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12125727	WIPI1	WD repeat domain, phosphoinositide interacting 1	gene	DOID:13580	cholestasis		ISO	RGD:1605986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12125727	WIPI1	WD repeat domain, phosphoinositide interacting 1	gene	DOID:9455	lipid storage disease		ISO	RGD:1605986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
12125744	CEL	carboxyl ester lipase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125744	CEL	carboxyl ester lipase	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125744	CEL	carboxyl ester lipase	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:737498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25774637
12125744	CEL	carboxyl ester lipase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:737498	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:0111105	maturity-onset diabetes of the young type 8		ISO	RGD:737498	D	RGD:7240710	20180130	OMIM			
12125744	CEL	carboxyl ester lipase	gene	DOID:0111105	maturity-onset diabetes of the young type 8		ISO	RGD:737498	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEL-related disorder | ClinVar Annotator: match by term: DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME | ClinVar Annotator: match by term: Diabetes-pancreatic exocrine dysfunction syndrome | ClinVar Annotator: match by term: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION | ClinVar Annotator: match by term: MODY8 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 8 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 8 | ClinVar Annotator: match by term: maturity-onset diabetes of the young type 8	PMID:16369531|PMID:18414213|PMID:25741868|PMID:31595705
12125744	CEL	carboxyl ester lipase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125744	CEL	carboxyl ester lipase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:2237	hepatitis		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hepatitis	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:3153	lipomatosis		ISO	RGD:737498	D	RGD:9068941	20200609	RGD		associated with Prediabetic State; DNA:deletion:exon	PMID:17259390|REF_RGD_ID:2313965
12125744	CEL	carboxyl ester lipase	gene	DOID:4989	pancreatitis		ISO	RGD:10330	D	RGD:9068941	20251106	MouseDO		OMIM:167800	
12125744	CEL	carboxyl ester lipase	gene	DOID:5041	esophageal cancer		ISO	RGD:737498	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125744	CEL	carboxyl ester lipase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125744	CEL	carboxyl ester lipase	gene	DOID:630	genetic disease		ISO	RGD:737498	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2331	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas,	PMID:8446851|REF_RGD_ID:2313971
12125744	CEL	carboxyl ester lipase	gene	DOID:9351	diabetes mellitus		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737498	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:9452	steatotic liver disease		ISO	RGD:737498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
12125744	CEL	carboxyl ester lipase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737498	D	RGD:9068941	20250508	RGD			PMID:10580419|REF_RGD_ID:2313967
12125744	CEL	carboxyl ester lipase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737498	D	RGD:9068941	20250508	RGD		protein:increased activity:serum	PMID:9536927|REF_RGD_ID:2313969
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050117	disease by infectious agent		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050127	sinusitis		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sinusitis	PMID:1695717|PMID:20659818|PMID:22020151|PMID:22658665|PMID:23974870|PMID:24586523|PMID:25741868|PMID:28492532|PMID:28603918|PMID:29504914|PMID:30548586|PMID:7525450|PMID:7691345|PMID:9272157|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050127	sinusitis	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:11773581|REF_RGD_ID:4140477
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic Pulmonary Fibrosis	PMID:10639207|PMID:10963013|PMID:11280952|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:1518030|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15994263|PMID:16283068|PMID:1682496|PMID:1695717|PMID:1715308|PMID:1721624|PMID:1723032|PMID:17475917|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19176844|PMID:20021716|PMID:20301428|PMID:21097845|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21783433|PMID:21976147|PMID:22020151|PMID:2233965|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30487145|PMID:30602999|PMID:30842938|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32539862|PMID:32777524|PMID:34426522|PMID:35131845|PMID:35858753|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:7693946|PMID:9272157|PMID:9725922|PMID:9806422
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050486	exanthem		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skin rash	PMID:12007216|PMID:12357328|PMID:14685259|PMID:15880796|PMID:17968991|PMID:18456578|PMID:23613805|PMID:23891399|PMID:23974870|PMID:25741868|PMID:25910067|PMID:26708955|PMID:27625827|PMID:28492532|PMID:28603918|PMID:30877757|PMID:30888834|PMID:9482579
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic pancreatitis	PMID:25741868|PMID:28492532|PMID:34145097|PMID:34759610|PMID:36703223
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:619566	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Glutaric acidemia type 2	PMID:10923036|PMID:15948195|PMID:19318346|PMID:20059485|PMID:23790242|PMID:23974870|PMID:27086061|PMID:28603918|PMID:28830496|PMID:29805046|PMID:30888834
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0060643	primary sclerosing cholangitis	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with inflammatory bowel disease; DNA:misense mutations:multiple	PMID:12783301|REF_RGD_ID:25671445
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0070187	Y-linked spermatogenic failure 2		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE, NONOBSTRUCTIVE, Y-LINKED | ClinVar Annotator: match by term: Spermatogenic failure, Y-linked, 2	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0070309	absence epilepsy		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:7240710	20180130	OMIM			
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of	PMID:10103316|PMID:10200050|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10556281|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10878476|PMID:10909845|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10982968|PMID:11005149|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11938439|PMID:12007216|PMID:12014388|PMID:12080183|PMID:12110684|PMID:12120234|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12719375|PMID:12732620|PMID:12767731|PMID:12815607|PMID:1283148|PMID:1284477|PMID:1284534|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14618962|PMID:14685937|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15536480|PMID:15638824|PMID:15640323|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15758663|PMID:15775704|PMID:15776432|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1723032|PMID:17235394|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18230692|PMID:18234567|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18951463|PMID:19092437|PMID:19176844|PMID:19181854
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of	PMID:19202204|PMID:19227414|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20849526|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20977904|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:2220803|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22449949|PMID:22468138|PMID:22569626|PMID:22572128|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22680785|PMID:22768251|PMID:22842702|PMID:22874010|PMID:22942289|PMID:22950544|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23067305|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25311995|PMID:25330774|PMID:25333069|PMID:25383785|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:25651269|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26087176|PMID:26095523|PMID:26098992
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of	PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26500004|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26708955|PMID:26795017|PMID:26800689|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26900683|PMID:26911355|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28001373|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28711222|PMID:28736296|PMID:28801929|PMID:28863137|PMID:28930490|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29173301|PMID:29202459|PMID:29216686|PMID:29261177|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30089726|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30348612|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30548586|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31682332|PMID:31740593|PMID:31788424|PMID:31808782|PMID:31902693|PMID:31916691|PMID:31980526|PMID:32026723|PMID:32143663|PMID:32204475|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32662942|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33771570|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34196078|PMID:34341587|PMID:34350279|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35065958|PMID:35273129|PMID:35418593|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36555865|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of	PMID:7681034|PMID:7682196|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9135274|PMID:9150159|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9493456|PMID:9507391|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10515411|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10651488|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10866956|PMID:10869121|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11134243|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12089190|PMID:12110684|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12767731|PMID:12783301|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20628052|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21536503|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:2220803|PMID:22210114|PMID:22257947|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22842702|PMID:22843683|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23483918|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:24243928|PMID:24269240|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24416359|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25093022|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26096753|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26334177|PMID:26348465|PMID:26354092|PMID:26364555|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27533158|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28001373|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:29040544|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29298718|PMID:29318594|PMID:29327948|PMID:29351449|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30022950|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31345219|PMID:31350925|PMID:31357024|PMID:31420175|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31808782|PMID:31845523|PMID:31847883|PMID:31872980|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32366966|PMID:32387800|PMID:32404922|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32628927|PMID:32630227|PMID:32630527|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33095038|PMID:33097431|PMID:33111836|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33393655|PMID:33424627|PMID:33432171|PMID:33442025|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33669477|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34065744|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34302615|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34613844|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34764021
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:34782259|PMID:34814176|PMID:34842611|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34957709|PMID:34974990|PMID:34995514|PMID:34996830|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35072004|PMID:35086832|PMID:35109852|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35184981|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36007526|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36143206|PMID:36174992|PMID:36207272|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36372909|PMID:36404349|PMID:36409970|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36604502|PMID:36631132|PMID:36655218|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36969284|PMID:36976651|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37000148|PMID:37006619|PMID:37147251|PMID:3716676|PMID:37175647|PMID:37274793|PMID:37296477|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37423798|PMID:37431359|PMID:37443404|PMID:37477516|PMID:37547293|PMID:37628659|PMID:37701179|PMID:37823318|PMID:37867076|PMID:37888495|PMID:37923102|PMID:38003474|PMID:38198345|PMID:38203285|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38515211|PMID:38601560|PMID:38662334|PMID:38695616|PMID:38825435|PMID:38966678|PMID:39031495|PMID:39062917|PMID:39151434|PMID:39262237|PMID:39272186|PMID:39296431|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:7539448|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7541511|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7692051|PMID:7693946|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8800923|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1 | ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1, modifier of | ClinVar Annotator: match by term: Hypertrypsinemia, neonatal, susceptibility to	PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1	PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10439967|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10913957|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11219165|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12651858|PMID:12679372|PMID:12752573|PMID:12767731|PMID:12815607|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283151|PMID:12833420|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15239534|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15390350|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15758663|PMID:1577217|PMID:15772171|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15948195|PMID:15970608|PMID:15994263|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16132229|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17043152|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:17186573|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17475917|PMID:17481968
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1	PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17673962|PMID:17716958|PMID:17825628|PMID:17850636|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18094014|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18279436|PMID:18304229|PMID:18306312|PMID:18373402|PMID:18421494|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18556774|PMID:18597042|PMID:18687795|PMID:18703181|PMID:18766277|PMID:18782298|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19236881|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19369536|PMID:1944451|PMID:19445912|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19625487|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20233062|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20463155|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20622033|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21097845|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21536503|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21679131|PMID:21719483|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21909392|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22094894|PMID:2210768|PMID:22138447|PMID:22138491|PMID:22293084|PMID:22299590|PMID:22326559|PMID:22327961|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22658665|PMID:22698459|PMID:22724884|PMID:22859523|PMID:22892530|PMID:22973227|PMID:22975760|PMID:22981294|PMID:22992668|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23378603|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23514810|PMID:23523379|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23765052|PMID:23790242|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24019231|PMID:24033266|PMID:24086355|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24633926|PMID:24697796|PMID:24762087|PMID:24813944|PMID:24816901|PMID:24958810|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25176415|PMID:25192979|PMID:25242226|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25910067|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1	PMID:26208274|PMID:26258862|PMID:26277102|PMID:26334177|PMID:26354092|PMID:26389801|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26823392|PMID:26826884|PMID:26847993|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27157324|PMID:27174726|PMID:27175795|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27447098|PMID:27469177|PMID:27488443|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27898234|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28448979|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28947035|PMID:29040544|PMID:29095814|PMID:29133775|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29212596|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29360847|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29805046|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30190268|PMID:30232781|PMID:30291871|PMID:30293248|PMID:30297908|PMID:30389600|PMID:30389601|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30877757|PMID:30888834|PMID:30898088|PMID:30938940|PMID:30975616|PMID:30979683|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31420175|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31845523|PMID:31893350|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32265339|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32630227|PMID:32635564|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32770779|PMID:32773111|PMID:32777524|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:3296569|PMID:32992607|PMID:33014932|PMID:33020115|PMID:33085659|PMID:33111836|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33469725|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33581080|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:33980186|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0080526	bronchiectasis 1		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 1	PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34761808|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34852971|PMID:34857524|PMID:34860163|PMID:34874053|PMID:34931337|PMID:34936849|PMID:34949556|PMID:34957709|PMID:34996830|PMID:35008443|PMID:35063397|PMID:35086832|PMID:35109852|PMID:35115637|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35558347|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35628451|PMID:35646184|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35764510|PMID:35769956|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:36003331|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36467478|PMID:36552859|PMID:36604502|PMID:36631132|PMID:36655002|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36982273|PMID:36983403|PMID:37006619|PMID:3716676|PMID:37168745|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37539852|PMID:37547293|PMID:37725210|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:38003474|PMID:38038166|PMID:38073688|PMID:38203285|PMID:38271453|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38601560|PMID:38662334|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39074961|PMID:39107787|PMID:39151434|PMID:39262237|PMID:39273547|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39482189|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39857666|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7477025|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524909|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526928|PMID:7529962|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7537150|PMID:7538127|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7550227|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7606851|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7683952|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7693946|PMID:7868128|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8535440|PMID:8605891|PMID:8627844|PMID:8663008|PMID:8680406|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8844211|PMID:8844213|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9067754|PMID:9067761|PMID:9101293|PMID:9101301|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9239681|PMID:9252549|PMID:9254864|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9917439|PMID:9920885
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:10103316|PMID:10341008|PMID:10439967|PMID:10562297|PMID:10653141|PMID:10909845|PMID:10980579|PMID:11168024|PMID:11219165|PMID:11242048|PMID:11280952|PMID:11354633|PMID:11484207|PMID:11491164|PMID:11737931|PMID:11746017|PMID:11810271|PMID:11883825|PMID:12578973|PMID:12651858|PMID:12752573|PMID:12767731|PMID:1283148|PMID:14618962|PMID:15246977|PMID:15371902|PMID:15537723|PMID:15666307|PMID:15727251|PMID:15738290|PMID:15775704|PMID:16266832|PMID:16283887|PMID:16801189|PMID:16951024|PMID:17015492|PMID:17347447|PMID:17489851|PMID:17572159|PMID:17576681|PMID:17662673|PMID:17850636|PMID:18078365|PMID:18394117|PMID:18456578|PMID:18687795|PMID:18778819|PMID:19092437|PMID:19318035|PMID:19550280|PMID:19880712|PMID:19885835|PMID:19893581|PMID:20021716|PMID:20522854|PMID:20619026|PMID:20657600|PMID:20797923|PMID:20923678|PMID:20932301|PMID:21198395|PMID:21228398|PMID:21507732|PMID:21520337|PMID:21594800|PMID:22020151|PMID:22332135|PMID:22366207|PMID:22427236|PMID:22439019|PMID:22572128|PMID:22658665|PMID:22975760|PMID:22992668|PMID:23276700|PMID:23378603|PMID:23420618|PMID:2344617|PMID:23613805|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24388274|PMID:24440181|PMID:25033378|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25304080|PMID:25308578|PMID:25525159|PMID:25698453|PMID:25741868|PMID:25797027|PMID:25910067|PMID:25963003|PMID:26070913|PMID:26324139|PMID:26467025|PMID:26553470|PMID:26846474|PMID:26990548|PMID:27171515|PMID:27264265|PMID:27364092|PMID:27469177|PMID:27728908|PMID:28419121|PMID:28492532|PMID:28544683|PMID:28603918|PMID:28830496|PMID:29261177|PMID:29431110|PMID:30279124|PMID:30444886|PMID:30488522|PMID:30548586|PMID:31036917|PMID:31130284|PMID:31199594|PMID:31213628|PMID:31331863|PMID:31447099|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32026723|PMID:32327388|PMID:32404922|PMID:32429104|PMID:32734384|PMID:33260873|PMID:33432171|PMID:33469725|PMID:33572515|PMID:34405919|PMID:34426522|PMID:34489188|PMID:34525262|PMID:34600583|PMID:34782259|PMID:34860163|PMID:34996830|PMID:35313924|PMID:35314707|PMID:35753512|PMID:35769956|PMID:35858753|PMID:35982373|PMID:36007526|PMID:36207272|PMID:36409970|PMID:37175647|PMID:37313453|PMID:37443404|PMID:37989334|PMID:38388235|PMID:38493004|PMID:38523675|PMID:39402445|PMID:40794449|PMID:7506096|PMID:7513293|PMID:7517264|PMID:7522329|PMID:7544788|PMID:7573058|PMID:7599637|PMID:7680769|PMID:7692051|PMID:8698344|PMID:8825927|PMID:9101293|PMID:9259194|PMID:9259197|PMID:9272157|PMID:9435322|PMID:9439669|PMID:9499426|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:2332	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:bile duct epithelium	PMID:18988797|REF_RGD_ID:2307071
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988797
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111862	congenital bilateral absence of vas deferens		ISO	RGD:2332	D	RGD:9068941	20260709	RGD		associated with Cystic Fibrosis	PMID:24608905|REF_RGD_ID:11566051
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111862	congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:10875853|PMID:11119745
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111862	congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:9068941	20260709	RGD		DNA:deletion, missense mutations: :multiple	PMID:10653141|REF_RGD_ID:11566040
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111862	congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:9068941	20260709	RGD		DNA:deletion, nonsense mutations, missense mutations: :multiple	PMID:11119745|REF_RGD_ID:11566027
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:7240710	20200619	OMIM			
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation	PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10439967|PMID:10453741|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10913957|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11466205|PMID:11484207|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11600681|PMID:11668613|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12651858|PMID:12679372|PMID:12719375|PMID:12752573|PMID:12767731|PMID:12815607|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283151|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284542|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1380943|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15239534|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15390350|PMID:15463840|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15758663|PMID:1577217|PMID:15772171|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15948195|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16132229|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17043152|PMID:17062471|PMID:17076271|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17662673|PMID:17673962|PMID:17716958|PMID:17825628|PMID:17850636|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18279436|PMID:18304229
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation	PMID:18306312|PMID:18373402|PMID:18421494|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18556774|PMID:18597042|PMID:18687795|PMID:18703181|PMID:18766277|PMID:18782298|PMID:18951463|PMID:18955805|PMID:19014821|PMID:1903761|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19369536|PMID:19445912|PMID:19457724|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19910674|PMID:1998343|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20522854|PMID:20551465|PMID:20558957|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21097845|PMID:21131649|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21520337|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21679131|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21909392|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22094894|PMID:2210768|PMID:22138447|PMID:22138491|PMID:22293084|PMID:22299590|PMID:22326559|PMID:22327961|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22438829|PMID:22439019|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22573477|PMID:22658665|PMID:22698459|PMID:22724884|PMID:22973227|PMID:22975760|PMID:22992668|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23343000|PMID:23378603|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23514810|PMID:23523379|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23765052|PMID:23790242|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24002981|PMID:24019231|PMID:24033266|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24633926|PMID:24697796|PMID:24762087|PMID:24816901|PMID:24958810|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25192979|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25910067|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320|PMID:26208274|PMID:26258862|PMID:26277102|PMID:26282188|PMID:26334177|PMID:26354092|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26823392|PMID:26826884|PMID:26847993|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27034411|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27157324|PMID:27174726|PMID:27175795|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27447098|PMID:27469177|PMID:27577878
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation	PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27898234|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28185838|PMID:28194692|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28944235|PMID:28947035|PMID:29040544|PMID:29095814|PMID:29133775|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29360847|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29805046|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30190268|PMID:30232781|PMID:30291871|PMID:30293248|PMID:30297908|PMID:30389600|PMID:30389601|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30877757|PMID:30888834|PMID:30938940|PMID:30979683|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31420175|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31845523|PMID:31893350|PMID:31916691|PMID:31980526|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32265312|PMID:32265339|PMID:32327388|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32770779|PMID:32773111|PMID:32777524|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:3296569|PMID:33020115|PMID:33085659|PMID:33111836|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33431308|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33502066|PMID:33512069|PMID:33572515|PMID:33577586|PMID:33581080|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33789612|PMID:33836782|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34852971|PMID:34860163|PMID:34874053|PMID:34931337|PMID:34949556|PMID:34996830|PMID:35063397|PMID:35086832|PMID:35109852|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35558347|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35646184|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36467478|PMID:36552859|PMID:36604502|PMID:36631132|PMID:36655002|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36982273|PMID:36983403|PMID:37006619|PMID:3716676
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:0111864	autosomal recessive congenital bilateral absence of vas deferens		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital bilateral aplasia of vas deferens from CFTR mutation	PMID:37168745|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37539852|PMID:37547293|PMID:37725210|PMID:37761847|PMID:37818777|PMID:37833986|PMID:37867076|PMID:37980178|PMID:38114870|PMID:38203285|PMID:38271453|PMID:38324470|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38601560|PMID:38662334|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39074961|PMID:39107787|PMID:39262237|PMID:39273547|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39482189|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39857666|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7520799|PMID:7522211|PMID:7522901|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526928|PMID:7529962|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7537150|PMID:7538127|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7545856|PMID:7550227|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7683952|PMID:7684644|PMID:7686423|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7693946|PMID:7868128|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8535440|PMID:8627844|PMID:8663008|PMID:8680406|PMID:8707304|PMID:8707306|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8844211|PMID:8844213|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9067754|PMID:9067761|PMID:9101293|PMID:9101301|PMID:9150159|PMID:9239681|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9305991|PMID:9383031|PMID:9401006|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9482579|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9849891|PMID:9917439|PMID:9920885|PMID:9921909
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:10376575|PMID:10970190|PMID:11186891|PMID:11278813|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12014388|PMID:12767731|PMID:12829453|PMID:1284537|PMID:1380943|PMID:15084222|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15482777|PMID:15486385|PMID:15614862|PMID:15994263|PMID:16801189|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:17407489|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20706124|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:21783433|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:24586523|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:25910067|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:27738188|PMID:28492532|PMID:28603918|PMID:28655774|PMID:28751714|PMID:29208182|PMID:29261177|PMID:30046002|PMID:30293248|PMID:30509709|PMID:30577776|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32060344|PMID:32220772|PMID:32429104|PMID:32483343|PMID:34190021|PMID:34426522|PMID:34782259|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:38203285|PMID:38388235|PMID:39598243|PMID:7525450|PMID:7541510|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10211	cholelithiasis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:liver (human)	PMID:12184527|REF_RGD_ID:21408573
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10534	stomach cancer		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1059	intellectual disability		ISO	RGD:619566	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12007216|PMID:12521276|PMID:15371903|PMID:15463906|PMID:1695717|PMID:17716958|PMID:18456578|PMID:18782298|PMID:22299590|PMID:22438829|PMID:22658665|PMID:22975760|PMID:23974870|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:30190268|PMID:31126253|PMID:32143663|PMID:7691345|PMID:8947061|PMID:9150159|PMID:9482579|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		protein:decreased expression:hypothalamus	PMID:14757935|REF_RGD_ID:11566025
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1074	kidney failure		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10808	gastric ulcer	treatment	ISO	RGD:2332	D	RGD:9068941	20200609	RGD			PMID:23596793|REF_RGD_ID:11567229
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10907	microcephaly		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10719683|PMID:10790222|PMID:10875853|PMID:11278813|PMID:11446424|PMID:12167682|PMID:12439892|PMID:12752573|PMID:1376016|PMID:15070876|PMID:15084222|PMID:15371907|PMID:15638824|PMID:16436643|PMID:17329263|PMID:18373402|PMID:18456578|PMID:19897426|PMID:20059485|PMID:20949073|PMID:22043142|PMID:22504961|PMID:22724884|PMID:22992668|PMID:23276700|PMID:23420618|PMID:2344617|PMID:23857699|PMID:23891399|PMID:23974870|PMID:25024266|PMID:25741868|PMID:25910067|PMID:28492532|PMID:28603918|PMID:29850441|PMID:31672438|PMID:36319933|PMID:4814176|PMID:9272157|PMID:9521595
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10908	hydrocephalus		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:10965	spastic diplegia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:25546515|REF_RGD_ID:11566048
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11155	hypohidrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11372	megacolon		ISO	RGD:619566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11383	cryptorchidism		ISO	RGD:10331	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:testis	PMID:22777528|REF_RGD_ID:11567213
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1143	exotropia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:15371903|PMID:1695717|PMID:18456578|PMID:23974870|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30190268|PMID:32143663|PMID:7691345|PMID:9150159|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11476	osteoporosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:11168024|PMID:11933191|PMID:15070876|PMID:15638824|PMID:16635477|PMID:17003641|PMID:19324992|PMID:20100616|PMID:22094894|PMID:23974870|PMID:25735457|PMID:25741868|PMID:25754095|PMID:26467025|PMID:26671754|PMID:28492532|PMID:29669919|PMID:29805046|PMID:30046002|PMID:30888834|PMID:34996830|PMID:38388235|PMID:39532587|PMID:7683952|PMID:8627844
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:1695717|PMID:20659818|PMID:22020151|PMID:22658665|PMID:23974870|PMID:24586523|PMID:25741868|PMID:28492532|PMID:28603918|PMID:29504914|PMID:30548586|PMID:7525450|PMID:7691345|PMID:9272157|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11720	distal myopathy		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:11836	clubfoot		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:11280952|PMID:12767731|PMID:15371902|PMID:15738290|PMID:17347447|PMID:17576681|PMID:18456578|PMID:19550280|PMID:21520337|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23613805|PMID:23751316|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24440181|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26553470|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29431110|PMID:30488522|PMID:31130284|PMID:31523618|PMID:32026723|PMID:9101293|PMID:9272157|PMID:9536098
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Biliary cirrhosis	PMID:10639207|PMID:10963013|PMID:11280952|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:15371902|PMID:15994263|PMID:1695717|PMID:1723032|PMID:1757966|PMID:18078365|PMID:18456578|PMID:20021716|PMID:20301428|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30602999|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:34426522|PMID:35131845|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:12336	male infertility		ISO	RGD:619566	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:17823699|PMID:18554162
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1247	blood coagulation disease		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:12007216|PMID:15371902|PMID:15371903|PMID:1695717|PMID:18456578|PMID:21474639|PMID:21796730|PMID:22975760|PMID:23765052|PMID:23974870|PMID:25741868|PMID:26574590|PMID:28492532|PMID:28603918|PMID:32674983|PMID:7686423|PMID:7691345|PMID:9150159|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:10331	D	RGD:9068941	20200609	RGD		DNA:mutation: :	PMID:20015999|REF_RGD_ID:4140389
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:12849	autistic disorder		ISO	RGD:619566	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autism	PMID:12007216|PMID:12521276|PMID:15371903|PMID:15463906|PMID:1695717|PMID:17716958|PMID:18456578|PMID:18782298|PMID:22299590|PMID:22438829|PMID:22658665|PMID:22975760|PMID:23974870|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:30190268|PMID:31126253|PMID:32143663|PMID:7691345|PMID:8947061|PMID:9150159|PMID:9482579|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13166	allergic bronchopulmonary aspergillosis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:11243954|REF_RGD_ID:4140482
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:deletion, SNP, haplotype: :p.F508del, rs10487372 (human)	PMID:20116881|REF_RGD_ID:11566029
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13250	diarrhea		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:16199547|PMID:16596947|PMID:1695717|PMID:20059485|PMID:20659818|PMID:22658665|PMID:23276700|PMID:23974870|PMID:25741868|PMID:28492532|PMID:28603918|PMID:30548586|PMID:31126253|PMID:32429104|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13258	typhoid fever	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200716	RGD		DNA:repeats: :CA repeats(human)	PMID:16078047|REF_RGD_ID:35673348
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:10077727|PMID:11388756|PMID:15371902|PMID:16199547|PMID:16786510|PMID:1695717|PMID:16963320|PMID:17331079|PMID:18456578|PMID:23687349|PMID:23974870|PMID:25667564|PMID:25674778|PMID:25741868|PMID:26467025|PMID:26708955|PMID:27086061|PMID:27174726|PMID:27784314|PMID:28492532|PMID:28603918|PMID:30996306|PMID:7517264|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13316	exocrine pancreatic insufficiency	onset	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human)	PMID:8535440|REF_RGD_ID:4140448
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations:whole blood :	PMID:20722470|REF_RGD_ID:4139905
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13564	aspergillosis	severity	ISO	RGD:10331	D	RGD:9068941	20200716	RGD			PMID:22135344|REF_RGD_ID:35673332
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:13580	cholestasis		ISO	RGD:2332	D	RGD:9068941	20200609	RGD		mRNA,Protein:increased expression	PMID:15605366|REF_RGD_ID:1599598
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:14175	von Hippel-Lindau disease		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Von Hippel-Lindau syndrome	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:14227	azoospermia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Azoospermia | ClinVar Annotator: match by term: Obstructive azoospermia	PMID:11280952|PMID:1284639|PMID:15371902|PMID:15486385|PMID:16126774|PMID:16443646|PMID:17489851|PMID:17576681|PMID:17825628|PMID:18456578|PMID:18951463|PMID:19459534|PMID:2045102|PMID:20923678|PMID:21097845|PMID:21228398|PMID:22658665|PMID:22975760|PMID:23381846|PMID:23891399|PMID:23974870|PMID:24440181|PMID:24586523|PMID:25741868|PMID:25910067|PMID:26467025|PMID:27728908|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29805046|PMID:30046002|PMID:30888834|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32674983|PMID:32761997|PMID:32777524|PMID:32935393|PMID:34276759|PMID:38388235|PMID:7524913|PMID:7539342|PMID:7680769|PMID:7686820|PMID:7868128|PMID:8844211|PMID:8956039|PMID:8968585|PMID:9039981|PMID:9272157|PMID:9459534|PMID:9536098|PMID:9736778|PMID:9788722|PMID:9849891|PMID:9921909
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:14766	renal agenesis		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11119745
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:7240710	20180130	OMIM			
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16330381|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17186573|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17690208|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29333815|PMID:29351449|PMID:29360847|PMID:29371133|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29760218|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933|PMID:33424627|PMID:33432171|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34680554|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35096544|PMID:35109852|PMID:35119551|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36174992|PMID:36207272|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36969284|PMID:36982273|PMID:3716676|PMID:37327085|PMID:37389024|PMID:37431359|PMID:37777263|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8800923|PMID:8818956|PMID:8825494
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis	PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16330381|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17690208|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22843683|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25944622|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29333815|PMID:29351449|PMID:29360847|PMID:29371133|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29760218|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933|PMID:33424627|PMID:33432171|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34680554|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35072004|PMID:35096544|PMID:35109852|PMID:35119551|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36174992|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36717774|PMID:36828084|PMID:36834620|PMID:36969284|PMID:36982273|PMID:3716676|PMID:37327085|PMID:37389024|PMID:37431359|PMID:37777263|PMID:37867076|PMID:37975497|PMID:38388235|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15841482|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16170155|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16330381|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17186573|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17690208|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18265915|PMID:18279436|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22843683|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25944622|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28344137|PMID:28348582|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29327948|PMID:29333815|PMID:29351449
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:29360847|PMID:29371133|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29760218|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31042466|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31159747|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32630227|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33097431|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933|PMID:33424627|PMID:33432171|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34680554|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35072004|PMID:35096544|PMID:35109852|PMID:35110256|PMID:35119551|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36038301|PMID:36142302|PMID:36174992|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36969284|PMID:36982273|PMID:37006619|PMID:37050906|PMID:3716676|PMID:37296477|PMID:37327085|PMID:37389024|PMID:37431359|PMID:37777263|PMID:37867076|PMID:37975497|PMID:38388235|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10477439|PMID:10480369|PMID:10503604|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10649505|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10738007|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12110684|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15046061|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15528182|PMID:15531750|PMID:15536480|PMID:15537723|PMID:15562283|PMID:15591474|PMID:15614862|PMID:15618592|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15841482|PMID:15853950|PMID:15857421|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16114821|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16141195|PMID:16170155|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16212675|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16311287|PMID:16330381|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16714368|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837250|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:16990428|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17048214|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17186573|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17234733|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17378246|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17525091|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17582383|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17678620|PMID:17681820|PMID:17690208|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17968998
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18265915|PMID:18279436|PMID:18280224|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18675692|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22843683|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23087020|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24416359|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25629612
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25940953|PMID:25944622|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27495225|PMID:27496146|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28344137|PMID:28348582|PMID:28356823|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28536625|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29318594|PMID:29327948|PMID:29333815|PMID:29351449|PMID:29360847|PMID:29368589|PMID:29371133|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29564361|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29760218|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30022950|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30819810|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31345219|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31847883|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32366966|PMID:32387800|PMID:32404922|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32628927|PMID:32630227|PMID:32630527|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33095038|PMID:33097431|PMID:33111836|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933|PMID:33424627|PMID:33432171
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:33442025|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33669477|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34065744|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34613844|PMID:34673937|PMID:34680554|PMID:34711619|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34756682|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906463|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35072004|PMID:35086832|PMID:35096544|PMID:35109852|PMID:35110256|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35184981|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35716026|PMID:35753512|PMID:35791043|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36007526|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36143206|PMID:36174992|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36372909|PMID:36409970|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36655218|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36768629|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36969284|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37000148|PMID:37006619|PMID:37050906|PMID:37147251|PMID:3716676|PMID:37168916|PMID:37175647|PMID:37274793|PMID:37296477|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37389024|PMID:37423798|PMID:37431359|PMID:37443404|PMID:37477516|PMID:37547293|PMID:37622442|PMID:37628659|PMID:37696564|PMID:37701179|PMID:37777263|PMID:37823318|PMID:37867076|PMID:37867141|PMID:37888495|PMID:37975497|PMID:37980178|PMID:38003474|PMID:38025192|PMID:38114870|PMID:38198345|PMID:38203285|PMID:38248793|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38501349|PMID:38515211|PMID:38590877|PMID:38601560|PMID:38695616|PMID:38825435|PMID:38871151|PMID:38966678|PMID:39004507|PMID:39062917|PMID:39151434|PMID:39262237|PMID:39412385|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:7539448|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7541511|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7748553|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:10026154|PMID:10050655|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10425036|PMID:10425081|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10477439|PMID:10480369|PMID:10503604|PMID:10515411|PMID:10517260|PMID:10556281|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10649505|PMID:10651488|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10738007|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10862085|PMID:10862786|PMID:10866956|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303509|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11597353|PMID:11600681|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796430|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11823443|PMID:11845002|PMID:11882668|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12089190|PMID:12110684|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12183675|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12529713|PMID:12530290|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12651880|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12783301|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284477|PMID:1284478|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284627|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:17968991|PMID:17968998|PMID:17975025|PMID:17981921|PMID:18056267|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18234567|PMID:18265915|PMID:18279436|PMID:18280224|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18350634|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18497194|PMID:18499536|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18675692|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18832460|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19139070|PMID:19166122|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19359437|PMID:19359498|PMID:19369536|PMID:19372188|PMID:1937486|PMID:19381710|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:1977306|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19858235|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19917960|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20110398|PMID:20116881|PMID:20144563|PMID:20150177|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20571109|PMID:20595578|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20628052|PMID:20639189|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20972246|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21329479|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21538969|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21837768|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:22043142|PMID:22047557|PMID:22052625|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22119790|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22160394|PMID:22191729|PMID:22194755|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22300503|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22569626|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22768251|PMID:22787562|PMID:22798282|PMID:22842702|PMID:22843683|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992393|PMID:22992668|PMID:22995991|PMID:22999299|PMID:23000902|PMID:2300168|PMID:23017188|PMID:23017645|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23087020|PMID:23089694|PMID:23092102|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23554779|PMID:23555973|PMID:23587593|PMID:23590265|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23712087|PMID:23716676|PMID:23721890|PMID:23727931|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:2395135|PMID:23951356|PMID:23953609|PMID:23955087|PMID:2397487|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24326373|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24416359|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24434749|PMID:24435787|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24551851|PMID:24556927|PMID:24559724|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24671311|PMID:24687356|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25010724|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25246892|PMID:25251442|PMID:25266159|PMID:25266997|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25403292|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25459562|PMID:25473543|PMID:25481366|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:25608981|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940043|PMID:25940953|PMID:25944622|PMID:25944907|PMID:25956447|PMID:25963003|PMID:25981758|PMID:26003066|PMID:26003067|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26075876|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26358851|PMID:26364555|PMID:26385858|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26538069|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26730394|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26864378|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27185048|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27298017|PMID:27311679|PMID:27324553|PMID:27334259|PMID:27340661|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27495225|PMID:27496146|PMID:27533158|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28001373|PMID:28003230|PMID:28003367|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28152038|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28261631|PMID:28325531|PMID:28332257|PMID:28340353|PMID:28344137|PMID:28348582|PMID:28356823|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28536625|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28805948|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28944235|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:28992757|PMID:29035608|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29113966|PMID:29124052|PMID:29126871|PMID:29133775|PMID:2915972|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29318594|PMID:29327948|PMID:29333815|PMID:29351449|PMID:29360847|PMID:29368589|PMID:29371133|PMID:29431110|PMID:29451946|PMID:29475947|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29564361|PMID:29569753|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29750258|PMID:29754320|PMID:29760218|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30022950|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30366773|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30540547|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30588852|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30805499|PMID:30811104|PMID:30819810|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31311920|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31345219|PMID:31350925|PMID:31357024|PMID:31377750|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31788264|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31847883|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31900120|PMID:31902693|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003094|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32103733|PMID:32113160|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32244302|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32366966|PMID:32387800|PMID:32404922|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32596391|PMID:32628927|PMID:32630227|PMID:32630527|PMID:32633402|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32757986|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32848127|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33095038|PMID:33097431|PMID:33111836|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33402933
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:33424627|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33504063|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33669477|PMID:33686728|PMID:33713579|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34057205|PMID:34065744|PMID:34071719|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34315429|PMID:34341587|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34415821|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34613844|PMID:34673937|PMID:34680554|PMID:34711619|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34756682|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906463|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34949574|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35008443|PMID:35011616|PMID:35065958|PMID:35072004|PMID:35086832|PMID:35096544|PMID:35109852|PMID:35110256|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35184981|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35633718|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35716026|PMID:35753512|PMID:35791043|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36007526|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36143206|PMID:36174992|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36372909|PMID:36404349|PMID:36409970|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36555865|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36655218|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36768629|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36969284|PMID:36976651|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37000148|PMID:37006619|PMID:37050906|PMID:37147251|PMID:3716676|PMID:37168916|PMID:37175647|PMID:37274793|PMID:37296477|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37389024|PMID:37423798|PMID:37431359|PMID:37443404|PMID:37477516|PMID:37547293|PMID:37622442|PMID:37628659|PMID:37696564|PMID:37701179|PMID:37777263|PMID:37823318|PMID:37867076|PMID:37867141|PMID:37888495|PMID:37923102|PMID:37975497|PMID:37980178|PMID:38003474|PMID:38025192|PMID:38114870|PMID:38198345|PMID:38203285|PMID:38248793|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38501349|PMID:38515211|PMID:38590877|PMID:38601560|PMID:38657903|PMID:38662334|PMID:38695616|PMID:38825435|PMID:38871151|PMID:38966678|PMID:39004507|PMID:39031495|PMID:39062917|PMID:39151434|PMID:39262237|PMID:39296431|PMID:39412385|PMID:5371902|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7493947|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513294|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516234|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529319
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: Sweat chloride elevation without cystic fibrosis	PMID:7529962|PMID:7530553|PMID:7530719|PMID:7531541|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:7539448|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7541511|PMID:7542223|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7682896|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7684646|PMID:7686336|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7689902|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7692051|PMID:7693946|PMID:7694298|PMID:7723568|PMID:7739684|PMID:7748553|PMID:7757078|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8092189|PMID:8097485|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8445619|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003498|PMID:9003508|PMID:9017943|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9108869|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9164328|PMID:9222768|PMID:9235853|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452054|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:10026154|PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10341008|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10419506|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10462611|PMID:10477439|PMID:10480369|PMID:10562541|PMID:10571949|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653140|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10738007|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10862085|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10875874|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10970190|PMID:10980550|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022925|PMID:11025834|PMID:11038458|PMID:11101688|PMID:11102992|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11134243|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11288708|PMID:11288718|PMID:11295849|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11471192|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11547256|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11732487|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11845002|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12084728|PMID:12089190|PMID:12116247|PMID:12120234|PMID:12124706|PMID:12124743|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12400067|PMID:12414835|PMID:12422349|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12529365|PMID:12530290|PMID:12544470|PMID:12624947|PMID:12630722|PMID:12651880|PMID:12679372|PMID:12719375|PMID:12752573|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12833420|PMID:12843327|PMID:1284466|PMID:1284468|PMID:1284471|PMID:1284529|PMID:1284530|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1371265|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1379210|PMID:1379211|PMID:1380689|PMID:1380943|PMID:1381442|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14641997|PMID:14685259|PMID:14685937|PMID:14696845|PMID:14872121|PMID:14963811|PMID:14998948|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15084988|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15151509|PMID:15176679|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15246977|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:15365999|PMID:15367921|PMID:15371902|PMID:15371903|PMID:15371905|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:15591474|PMID:15614862|PMID:15618592|PMID:15638824|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15705389|PMID:15716623|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15840711|PMID:15841482|PMID:15853950|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16330381|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16423550|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16488363|PMID:16493442|PMID:16499810|PMID:16572913|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678395|PMID:16678503|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:16837250|PMID:16837565|PMID:16840743|PMID:16915933|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:16990428|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1716180|PMID:17172597|PMID:17175965|PMID:17186573|PMID:1721624|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17244607|PMID:17251329|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17507277|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757965|PMID:17580535|PMID:17582383|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17660831|PMID:17662673|PMID:17673962|PMID:17690208|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18056267|PMID:18078365|PMID:18178635|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18265915|PMID:18279436|PMID:18280224|PMID:18292811|PMID:18301294|PMID:18304229|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18394117|PMID:18414213|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18499536|PMID:18500736|PMID:18556774|PMID:18597042|PMID:18639722|PMID:1867536|PMID:18675692|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18778819|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18832460|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19092437|PMID:19139070|PMID:19166122|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19236881|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19372188|PMID:1937486|PMID:19445912|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19625487|PMID:19645745|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19759008|PMID:19763152|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19858235|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:1998343|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052366|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20190016|PMID:20217271|PMID:20233062|PMID:20301428
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20460947|PMID:20510657|PMID:20512161|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20562583|PMID:20616359|PMID:20619026|PMID:20622033|PMID:20627915|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20952391|PMID:20974851|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21097845|PMID:21131649|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:21296036|PMID:21317048|PMID:21354377|PMID:21388895|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21455600|PMID:21474639|PMID:21483833|PMID:21499205|PMID:21507732|PMID:21520337|PMID:21521896|PMID:21536503|PMID:21576373|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21746847|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21966101|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22052625|PMID:22094894|PMID:2210768|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22156145|PMID:22271776|PMID:22274833|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22324837|PMID:22326559|PMID:22327961|PMID:22332135|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22395041|PMID:22406018|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22550062|PMID:22572128|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22612315|PMID:22658665|PMID:22664493|PMID:22678879|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22787562|PMID:22798282|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981294|PMID:22992668|PMID:22995991|PMID:23017645|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23083715|PMID:23087020|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23248597|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23343000|PMID:23349053|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23381846|PMID:23401342|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23470247|PMID:23483918|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23587593|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23727931|PMID:23751316|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23820649|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23890012|PMID:23890029|PMID:23891399|PMID:23924900|PMID:2395135|PMID:23951356|PMID:23974870|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24082139|PMID:24129438|PMID:24243928|PMID:24269240|PMID:24272871|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24440180|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24513262|PMID:24525081|PMID:24556927|PMID:24561283|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24633926|PMID:24649380|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24958810|PMID:25010724|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25093022|PMID:25097766|PMID:25122143|PMID:25176415|PMID:25192979|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25326635|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569187|PMID:25569440
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:25580864|PMID:25583415|PMID:25593612|PMID:25629612|PMID:25636364|PMID:25640679|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858|PMID:25688174|PMID:25697318|PMID:25698453|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25922769|PMID:25940953|PMID:25944622|PMID:25956447|PMID:25963003|PMID:26003066|PMID:26003067|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26096753|PMID:26098992|PMID:26100556|PMID:26160248|PMID:26199320|PMID:26208274|PMID:26214305|PMID:26229102|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26324139|PMID:26334177|PMID:26335950|PMID:26348465|PMID:26354092|PMID:26364555|PMID:26385858|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26493493|PMID:26494713|PMID:26496611|PMID:26500004|PMID:26526220|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26761715|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27195969|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27311679|PMID:27324553|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27496146|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27706244|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27895116|PMID:27912062|PMID:27917292|PMID:27996019|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28163942|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28332257|PMID:28340353|PMID:28348582|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28536625|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28736296|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28944235|PMID:28957316|PMID:28978796|PMID:28992757|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29099333|PMID:29113966|PMID:29124052|PMID:29133775|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29298718|PMID:29307731|PMID:29351449|PMID:29368589|PMID:29371133|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29564361|PMID:29581173|PMID:29589582|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29760218|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29936070|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29995784|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30060175|PMID:30081288|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30819810|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30979683|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31561038|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31785789|PMID:31808782|PMID:31845523|PMID:31847883|PMID:31848897|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31940241|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32025909|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32103733|PMID:32126153|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32265312|PMID:32281737|PMID:3229281|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32387800|PMID:32404922|PMID:32414100|PMID:32429104|PMID:32442342|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32539862|PMID:32563932|PMID:32630227|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33095038|PMID:33097431|PMID:33111836|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33348555|PMID:33374015|PMID:33402933|PMID:33424627|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33468668|PMID:33470563|PMID:33502066|PMID:33512069|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33669477|PMID:33686728|PMID:33747920|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33807078|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33937153|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34680554|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34756682|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34842364|PMID:34842611|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34906463|PMID:34906502|PMID:34931337|PMID:34949556|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34973142|PMID:34974990|PMID:34995514|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35011616|PMID:35072004|PMID:35086832|PMID:35096544|PMID:35109852|PMID:35110243|PMID:35110256|PMID:35119551|PMID:35171259|PMID:35184981|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35690514|PMID:35697137|PMID:35698092|PMID:35716026|PMID:35753512|PMID:35791043|PMID:35791184|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36003331|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36143206|PMID:36174992|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36264955|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36468602
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:36552859|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36655218|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36768629|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36969284|PMID:36976651|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37000148|PMID:37009019|PMID:37050906|PMID:37147251|PMID:3716676|PMID:37168916|PMID:37274793|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37389024|PMID:37423798|PMID:37431359|PMID:37477516|PMID:37547293|PMID:37628659|PMID:37777263|PMID:37867076|PMID:37867141|PMID:37888495|PMID:37980178|PMID:38003474|PMID:38025192|PMID:38114870|PMID:38203285|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38501349|PMID:38515211|PMID:38590877|PMID:38601560|PMID:38657903|PMID:38662334|PMID:38695616|PMID:38825435|PMID:38871151|PMID:38966678|PMID:39004507|PMID:39031495|PMID:39062917|PMID:39151434|PMID:39262237|PMID:39291770|PMID:39296431|PMID:39402445|PMID:39412385|PMID:39529847|PMID:39570414|PMID:40128832|PMID:63921865|PMID:6840743|PMID:6963320|PMID:7472820|PMID:7475569|PMID:7477025|PMID:7504969|PMID:7504970|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509231|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516305|PMID:7517264|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520022|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7522211|PMID:7522329|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7526929|PMID:7527269|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537150|PMID:7538127|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7541511|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7679367|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682984|PMID:7683952|PMID:7683954|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7692051|PMID:7694298|PMID:7739684|PMID:7748553|PMID:7868128|PMID:7881429|PMID:8081395|PMID:8097485|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8627844|PMID:8644755|PMID:8663008|PMID:8680406|PMID:8680407|PMID:8698344|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8800923|PMID:8818956|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8865181|PMID:8880589|PMID:8880910|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9164328|PMID:9222768|PMID:9239681|PMID:9252549|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9550362|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9678705|PMID:9683582|PMID:9691989|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9922378|PMID:9950364
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis	PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:10050655|PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10439967|PMID:10447267|PMID:10453741|PMID:10477439|PMID:10480369|PMID:10515411|PMID:10515412|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653140|PMID:10653145|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10812063|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10909845|PMID:10913957|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022033|PMID:11022925|PMID:11101688|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11732487|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12630722|PMID:12651858|PMID:12679372|PMID:12719375|PMID:12752573|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283148|PMID:1283151|PMID:12833420|PMID:12843327|PMID:1284471|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284539|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373934|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15024729|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:15181619|PMID:15218997|PMID:15241793|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15354332|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15507674|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15738290|PMID:15744517|PMID:15744829|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15776432|PMID:15784035|PMID:15841482|PMID:15853950|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15970608|PMID:15994263|PMID:16037690|PMID:16046196|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16170155|PMID:16187186
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16272798|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16488363|PMID:16493442|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16837250|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:16990428|PMID:17003641|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17043152|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:17186573|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17580535|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17673962|PMID:17690208|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18094014|PMID:18178635|PMID:18193900|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18279436|PMID:18280224|PMID:18304229|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18597042|PMID:18676185|PMID:18683213|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18766277|PMID:18769034|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19236881|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19369536|PMID:19372188|PMID:19383231|PMID:19419506|PMID:1944451|PMID:19445912|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19625487|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914431|PMID:19914443|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20217271|PMID:20233062|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20463155|PMID:20510657|PMID:20512161|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20571109|PMID:20622033|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20972246|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21097845|PMID:21184098|PMID:21198395|PMID:21215918|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21536503|PMID:21576373|PMID:21594800|PMID:21625534|PMID:21628448|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21719483|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21837768|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:22052625|PMID:22052729|PMID:22094894|PMID:2210768|PMID:2210769|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22148899|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22324837|PMID:22326559|PMID:22327961|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22406018|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22608296|PMID:22658665|PMID:22664493|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22787562|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981294|PMID:22992668|PMID:22995991|PMID:23017645|PMID:23027855|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23240968|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23343000|PMID:23349053|PMID:23378595|PMID:23378603|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23470247|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23587593|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23727931|PMID:23751316|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24081349|PMID:24086355|PMID:24129438|PMID:24243928|PMID:24272871|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24513262|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24633926|PMID:24649380|PMID:24697796|PMID:24727426|PMID:24762087|PMID:24777605|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25097766|PMID:25122143|PMID:25162364|PMID:25176415|PMID:25192979|PMID:25242226|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25556971|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25629612|PMID:25636364|PMID:25640679|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25739099|PMID:25741868|PMID:25754095|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25898134|PMID:25898554|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25944622|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320|PMID:26208274|PMID:26258862|PMID:26277102|PMID:26293390|PMID:26334177|PMID:26354092|PMID:26358851|PMID:26385858|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26830335|PMID:26847993|PMID:26856987|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27035618|PMID:27049043|PMID:27081564|PMID:27086061|PMID:27105680|PMID:27143075|PMID:27157324|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27214204|PMID:27222777|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27324553|PMID:27423539|PMID:27449771|PMID:27469177|PMID:27475719|PMID:27488443|PMID:27496146|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27706244|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27884173|PMID:27898234|PMID:27917292
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:27996019|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28106773|PMID:28116329|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28242630|PMID:28340353|PMID:28348582|PMID:28356823|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28436419|PMID:28437538|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28712885|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28784578|PMID:28785019|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28947035|PMID:28978796|PMID:28992757|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29124052|PMID:29133775|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29212596|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29307731|PMID:29360847|PMID:29371133|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29564361|PMID:29569753|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29760218|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29944384|PMID:29951967|PMID:29970830|PMID:29983195|PMID:29997283|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30190268|PMID:30192042|PMID:30230192|PMID:30232781|PMID:30238759|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30374031|PMID:30379828|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30819810|PMID:30851139|PMID:30877757|PMID:3088883|PMID:30888834|PMID:30898088|PMID:30938940|PMID:30979683|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31162888|PMID:31164398|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31345219|PMID:31350925|PMID:31357024|PMID:31406621|PMID:31420175|PMID:31423445|PMID:31450232|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31697873|PMID:31709488|PMID:31740593|PMID:31785789|PMID:31844968|PMID:31845523|PMID:31872980|PMID:31882543|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32103733|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32265339|PMID:3229281|PMID:32327388|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32508047|PMID:32512765|PMID:32539862|PMID:32563932|PMID:32630227|PMID:32635564|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:32992607|PMID:33014932|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33093640|PMID:33111836|PMID:33118704|PMID:33138251|PMID:33138774|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33427803|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33469725|PMID:33502066|PMID:33512069|PMID:33533914|PMID:33544657|PMID:33572515|PMID:33577586|PMID:33581080
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:33613790|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33789612|PMID:33807078|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:33972190|PMID:33980186|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34145097|PMID:34155362|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34297361|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34688701|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34756682|PMID:34761808|PMID:34764021|PMID:34765005|PMID:34782259|PMID:34814176|PMID:34831330|PMID:34842611|PMID:34850610|PMID:34852971|PMID:34857524|PMID:34860163|PMID:34931337|PMID:34936849|PMID:34949556|PMID:34952832|PMID:34957709|PMID:34964109|PMID:34996830|PMID:34998674|PMID:35006361|PMID:35063397|PMID:35072004|PMID:35086832|PMID:35109852|PMID:35110243|PMID:35115637|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35628451|PMID:35631432|PMID:35633718|PMID:35650428|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35698963|PMID:35714602|PMID:35716026|PMID:35753512|PMID:35764510|PMID:35769956|PMID:35791043|PMID:35857025|PMID:35858753|PMID:35894192|PMID:35913788|PMID:35934641|PMID:35962622|PMID:36003331|PMID:36007526|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36468602|PMID:36549989|PMID:36552859|PMID:36567205|PMID:36582049|PMID:36599151|PMID:36604502|PMID:36631132|PMID:36670555|PMID:36717774|PMID:36739240|PMID:36751320|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36891936|PMID:36964972|PMID:36969284|PMID:36976651|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37006619|PMID:37025483|PMID:37050906|PMID:3716676|PMID:37175647|PMID:37274793|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37332357|PMID:37389024|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37477516|PMID:37547293|PMID:37628659|PMID:37725210|PMID:37745463|PMID:37754773|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:37923102|PMID:38003474|PMID:38026150|PMID:38038166|PMID:38073688|PMID:38114870|PMID:38151412|PMID:38167091|PMID:38203285|PMID:38246579|PMID:38248793|PMID:38271453|PMID:38278869|PMID:38324470|PMID:38352056|PMID:38388235|PMID:38392563|PMID:38493004|PMID:38501349|PMID:38546237|PMID:38601560|PMID:38605122|PMID:38662334|PMID:38695616|PMID:38895864|PMID:38901883|PMID:38933680|PMID:38956483|PMID:38966678|PMID:38978874|PMID:39031495|PMID:39048464|PMID:39074961|PMID:39107787|PMID:39151434|PMID:39262237|PMID:39273547|PMID:39291770|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39529847|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39747338|PMID:39773272|PMID:39855646|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40159410|PMID:40461090|PMID:40522671|PMID:40682402|PMID:40785054|PMID:40794449|PMID:40804904|PMID:40955454|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7477025|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7524915|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526927|PMID:7526928|PMID:7527269|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537150|PMID:7538127|PMID:7539080
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:7539342|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7682896|PMID:7683952|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7723568|PMID:7739684|PMID:7748553|PMID:7845290|PMID:7868128|PMID:8081395|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8530001|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8659542|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8880910|PMID:8889582|PMID:8910333|PMID:8922636|PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9222768|PMID:9239681|PMID:9252549|PMID:9254864|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9452048|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9487979|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9842999|PMID:9849891|PMID:9853928|PMID:9881185|PMID:9895335|PMID:9915972|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9950364
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:10050655|PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10228103|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10419506|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10477439|PMID:10480369|PMID:10515411|PMID:10515412|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653140|PMID:10668931|PMID:10671057|PMID:10719683|PMID:10736180|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790220|PMID:10790222|PMID:10790225|PMID:10794365|PMID:10798353|PMID:10798368|PMID:10812063|PMID:10834512|PMID:10836331|PMID:10852925|PMID:10869121|PMID:10874326|PMID:10875853|PMID:10909845|PMID:10913957|PMID:10922396|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11001817|PMID:11005149|PMID:11022033|PMID:11022925|PMID:11101688|PMID:11108532|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168023|PMID:11168024|PMID:11171377|PMID:11180668|PMID:11186891|PMID:11216394|PMID:11219165|PMID:11242048|PMID:11276378|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11732487|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12084728|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12151438|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12394343|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12630722|PMID:12651858|PMID:12679372|PMID:12719375|PMID:12752573|PMID:12767731|PMID:12783301|PMID:12815607|PMID:12820707|PMID:12825076|PMID:1282900|PMID:12829453|PMID:1283151|PMID:12833420|PMID:1284471|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:1284889|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12913074|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12939925|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15218997|PMID:15239534|PMID:15284228|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15738290|PMID:15744517|PMID:15744829|PMID:15754262|PMID:15758663|PMID:1577217|PMID:15772171|PMID:15776432|PMID:15784035|PMID:15841482|PMID:15853950|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15970608|PMID:15994263|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16170155|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202788|PMID:16202790
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:16240056|PMID:16251901|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16481891|PMID:16488363|PMID:16493442|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16822950|PMID:1682496|PMID:16837250|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:16989640|PMID:16990428|PMID:17003641|PMID:17020467|PMID:17035430|PMID:17043152|PMID:17062471|PMID:17076271|PMID:17095337|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1710600|PMID:17127107|PMID:1712898|PMID:1712984|PMID:17137500|PMID:1715308|PMID:17186573|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17673962|PMID:17678620|PMID:17690208|PMID:17716958|PMID:17718859|PMID:17823699|PMID:17825628|PMID:17850636|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18094014|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18279436|PMID:18280224|PMID:18304229|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18467194|PMID:18493878|PMID:18500736|PMID:18556774|PMID:18597042|PMID:18676185|PMID:18683213|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18766277|PMID:18769034|PMID:18782298|PMID:1879436|PMID:18796364|PMID:18832460|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19017867|PMID:19019741|PMID:19019984|PMID:1903761|PMID:19176844|PMID:19181743|PMID:19181854|PMID:19202204|PMID:19236881|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19332488|PMID:19369536|PMID:19372188|PMID:19419506|PMID:1944451|PMID:19445912|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19625487|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19763152|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914443|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20052766|PMID:20059381|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20233062|PMID:20301428|PMID:20301773|PMID:20307669|PMID:20332619|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20463155|PMID:20510657|PMID:20521170|PMID:20522854|PMID:20538955|PMID:20551307|PMID:20551465|PMID:20558957|PMID:20560922|PMID:20622033|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20714932|PMID:20717170|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20875776|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21059651|PMID:21068670|PMID:21097845|PMID:21131649|PMID:21184098|PMID:21198395|PMID:21215918|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21536503|PMID:21576373|PMID:21594800|PMID:21625534|PMID:21628448|PMID:21636331|PMID:21642448|PMID:21673536|PMID:21679131|PMID:21708286|PMID:21719483|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21837768|PMID:21909392|PMID:21917531|PMID:21931512|PMID:21948798|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22052625|PMID:22094894|PMID:2210768|PMID:22137130|PMID:22138447|PMID:22138491|PMID:22271776|PMID:22293084
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:22299590|PMID:22326559|PMID:22327961|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22406018|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22572733|PMID:22573477|PMID:22591852|PMID:22658665|PMID:22664493|PMID:22698459|PMID:22722932|PMID:22724884|PMID:22787562|PMID:22859523|PMID:22892530|PMID:22973227|PMID:22975760|PMID:22981294|PMID:22992668|PMID:22995991|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23343000|PMID:23349053|PMID:23378603|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23470247|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23587593|PMID:23612672|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23727931|PMID:23751316|PMID:23765052|PMID:23775370|PMID:23790242|PMID:23791427|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24002981|PMID:24019231|PMID:24022636|PMID:24033266|PMID:24086355|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24513262|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24633926|PMID:24649380|PMID:24697796|PMID:24762087|PMID:24777605|PMID:24813944|PMID:24816901|PMID:24958810|PMID:25016221|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25097766|PMID:25122143|PMID:25162364|PMID:25176415|PMID:25192979|PMID:25242226|PMID:25266159|PMID:25266997|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25536748|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25629612|PMID:25636364|PMID:25640679|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25680858|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25898134|PMID:25900089|PMID:25905921|PMID:25910067|PMID:25944622|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087173|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320|PMID:26208274|PMID:26258862|PMID:26277102|PMID:26282188|PMID:26293390|PMID:26334177|PMID:26354092|PMID:26385858|PMID:26389801|PMID:26399542|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26814065|PMID:26823392|PMID:26826884|PMID:26830335|PMID:26847993|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27034411|PMID:27035618|PMID:27049043|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27105680|PMID:27143075|PMID:27157324|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27182737|PMID:27214204|PMID:27240813|PMID:27261451|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27447098|PMID:27469177|PMID:27475719|PMID:27488443|PMID:27496146|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27898234|PMID:27917292|PMID:27996019|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28106773|PMID:28116329|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28235470|PMID:28242630|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28436419|PMID:28437538|PMID:28448979|PMID:28469871|PMID:28471435|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:28655774|PMID:28687971|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28784578|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28944235|PMID:28947035|PMID:28992757|PMID:29040544|PMID:29055982|PMID:29095814|PMID:29133775|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29212596|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29360847|PMID:29371133|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29564361|PMID:29569753|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29760218|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29886024|PMID:29924856|PMID:29944384|PMID:29951967|PMID:29983195|PMID:29997283|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30144894|PMID:30146269|PMID:30190268|PMID:30192042|PMID:30230192|PMID:30232781|PMID:30238759|PMID:30291871|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30374031|PMID:30389600|PMID:30389601|PMID:30419605|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30595473|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30617673|PMID:30661751|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30819810|PMID:30842938|PMID:30851139|PMID:30877757|PMID:3088883|PMID:30888834|PMID:30898088|PMID:30938940|PMID:30975616|PMID:30979683|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31164398|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31357024|PMID:31406621|PMID:31420175|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31709488|PMID:31740593|PMID:31785789|PMID:31845523|PMID:31872980|PMID:31883651|PMID:31893350|PMID:31916691|PMID:31976142|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32103733|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32265339|PMID:3229281|PMID:32327388|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32442342|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32563932|PMID:32630227|PMID:32635564|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32770779|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32951344|PMID:3296569|PMID:32992607|PMID:33014932|PMID:33020115|PMID:33085659|PMID:33093640|PMID:33111836|PMID:33118704|PMID:33138774|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33278322|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33427803|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33444622|PMID:33452147|PMID:33468668|PMID:33469725|PMID:33502066|PMID:33512069|PMID:33544657|PMID:33572515|PMID:33577586|PMID:33581080|PMID:33613790|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33789612|PMID:33807078|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:33972190|PMID:33980186|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34688701|PMID:34714360|PMID:34740355|PMID:34755701|PMID:34761808|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34831330|PMID:34842611|PMID:34852971|PMID:34857524|PMID:34860163|PMID:34874053|PMID:34931337|PMID:34936849|PMID:34949556|PMID:34952832|PMID:34957709
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:34964109|PMID:34996830|PMID:35006361|PMID:35008443|PMID:35063397|PMID:35072004|PMID:35086832|PMID:35109852|PMID:35110243|PMID:35115637|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35558347|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35628451|PMID:35631432|PMID:35633718|PMID:35646184|PMID:35650428|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35698963|PMID:35714602|PMID:35716026|PMID:35753512|PMID:35764510|PMID:35769956|PMID:35791043|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:35962622|PMID:36003331|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36238762|PMID:36249513|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36428953|PMID:36437230|PMID:36437957|PMID:36458240|PMID:36467478|PMID:36552859|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36655002|PMID:36670555|PMID:36717774|PMID:36739240|PMID:36751320|PMID:36796836|PMID:36828084|PMID:36834620|PMID:36891936|PMID:36892308|PMID:36976651|PMID:36982273|PMID:36983403|PMID:37006619|PMID:37009019|PMID:37050906|PMID:3716676|PMID:37168745|PMID:37274793|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37332357|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37477516|PMID:37539852|PMID:37547293|PMID:37725210|PMID:37745463|PMID:37754773|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:37980178|PMID:38003474|PMID:38026150|PMID:38038166|PMID:38073688|PMID:38114870|PMID:38151412|PMID:38167091|PMID:38203285|PMID:38246579|PMID:38248793|PMID:38271453|PMID:38278869|PMID:38324470|PMID:38352056|PMID:38381791|PMID:38388235|PMID:38493004|PMID:38501349|PMID:38546237|PMID:38601560|PMID:38605122|PMID:38662334|PMID:38895864|PMID:38901883|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39031495|PMID:39048464|PMID:39074961|PMID:39107787|PMID:39151434|PMID:39262237|PMID:39273547|PMID:39291770|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39482189|PMID:39529847|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39747338|PMID:39773272|PMID:39857666|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40159410|PMID:40461090|PMID:40522671|PMID:40804904|PMID:40955454|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7477025|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516233|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7519167|PMID:7520798|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524909|PMID:7524913|PMID:7524915|PMID:7525450|PMID:7525963|PMID:7526927|PMID:7526928|PMID:7527269|PMID:7529962|PMID:7530553|PMID:7530719|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537150|PMID:7538127|PMID:7539342|PMID:754013|PMID:7540133|PMID:7540587|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7542223|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7550227|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7606851|PMID:7668304|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7682896|PMID:7683952|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7689898|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7693946|PMID:7723568|PMID:7748553|PMID:7845290|PMID:7868128|PMID:8081395|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8530001|PMID:8535440|PMID:8556303|PMID:8563237|PMID:8605891|PMID:8627844|PMID:8644755|PMID:8663008|PMID:8680406|PMID:8707304|PMID:8707306|PMID:8723693|PMID:8723694|PMID:8723695|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8834261|PMID:8844211|PMID:8844213|PMID:8880910|PMID:8889582|PMID:8910333|PMID:8922636
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTIC FIBROSIS | ClinVar Annotator: match by term: Cystic Fibrosis | ClinVar Annotator: match by term: Cystic fibrosis | ClinVar Annotator: match by term: MUCOVISCIDOSIS | ClinVar Annotator: match by term: Mucoviscidosis | ClinVar Annotator: match by term: cystic fibrosis	PMID:8947061|PMID:8956039|PMID:8968585|PMID:8992448|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9043706|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9222768|PMID:9239681|PMID:9252549|PMID:9254864|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9298826|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9401110|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9452048|PMID:9452112|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9487979|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9849891|PMID:9853928|PMID:9895335|PMID:9917439|PMID:9920885|PMID:9921909|PMID:9950364
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	disease_progression	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:17099022|REF_RGD_ID:4140392
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	no_association	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutation:exon:p.R117H(human)	PMID:19880712|REF_RGD_ID:4140393
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	onset	ISO	RGD:1347984	D	RGD:9068941	20260122	RGD		DNA:mutation	PMID:28756021|REF_RGD_ID:629136813
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1605382,RGD:736324,RGD:737288	D	RGD:9068941	20260101	RGD		DNA:deletion:F508del	PMID:16463024|REF_RGD_ID:629142775
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA,protein:mutations,substitutions:exon:	PMID:2344617|REF_RGD_ID:4140394
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:insertion:exon:c.3904_3905insT (human)	PMID:9254853|REF_RGD_ID:4140401
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.W1282X(human)	PMID:1370365|REF_RGD_ID:4140436
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.F508C, S1251N	PMID:1284535|REF_RGD_ID:4140438
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation:cds;c. 2143delT (human)	PMID:1283149|REF_RGD_ID:4140439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation:intron: 3272-26A>G (human)	PMID:11732487|REF_RGD_ID:4140450
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1596	depressive disorder		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1697	ichthyosis		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:12007216|PMID:12357328|PMID:14685259|PMID:15880796|PMID:17968991|PMID:18456578|PMID:23613805|PMID:23891399|PMID:23974870|PMID:25741868|PMID:25910067|PMID:26708955|PMID:27625827|PMID:28492532|PMID:28603918|PMID:30877757|PMID:30888834|PMID:9482579
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1724	duodenal ulcer		ISO	RGD:2332	D	RGD:9068941	20200609	RGD			PMID:15905414|REF_RGD_ID:1599596
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1793	pancreatic cancer	no_association	ISO	RGD:619566	D	RGD:9068941	20200609	RGD			PMID:17072959|REF_RGD_ID:2317157
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1793	pancreatic cancer	onset	ISO	RGD:619566	D	RGD:9068941	20200609	RGD			PMID:16227367|REF_RGD_ID:2317156
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1826	epilepsy		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11732487|PMID:12007216|PMID:12357328|PMID:12955726|PMID:14685259|PMID:14872121|PMID:15880796|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:17968991|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23613805|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:25910067|PMID:26467025|PMID:26708955|PMID:27625827|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:29805046|PMID:30046002|PMID:30134826|PMID:30877757|PMID:3088883|PMID:30888834|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:38388235|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8663008|PMID:8910333|PMID:9482579|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:1882	atrial heart septal defect		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:2030	anxiety disorder		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12007216|PMID:12767731|PMID:1284537|PMID:12955726|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15371903|PMID:15614862|PMID:15994263|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19318346|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21354377|PMID:21474639|PMID:21520337|PMID:21679131|PMID:21796730|PMID:22020151|PMID:22545782|PMID:22658665|PMID:22859523|PMID:22975760|PMID:22992668|PMID:23687349|PMID:23751316|PMID:23765052|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:25826586|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26574590|PMID:26823392|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28655774|PMID:28801929|PMID:29208182|PMID:29261177|PMID:29279204|PMID:29504914|PMID:30134826|PMID:30190268|PMID:30293248|PMID:31016917|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32143663|PMID:32220772|PMID:32429104|PMID:32674983|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36467478|PMID:36655002|PMID:39857666|PMID:40065563|PMID:7686423|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9150159|PMID:9725922|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:2841	asthma		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10639207|PMID:10963013|PMID:11280952|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:1518030|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15994263|PMID:16283068|PMID:1682496|PMID:1695717|PMID:1715308|PMID:1721624|PMID:1723032|PMID:17475917|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19176844|PMID:20021716|PMID:20301428|PMID:21097845|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21783433|PMID:21976147|PMID:22020151|PMID:2233965|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30487145|PMID:30602999|PMID:30842938|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32539862|PMID:32777524|PMID:34426522|PMID:35131845|PMID:35858753|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:7693946|PMID:9272157|PMID:9725922|PMID:9806422
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:2841	asthma	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:deletion: :p.F508del(human)	PMID:20298391|REF_RGD_ID:4140387
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:2913	acute pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute pancreatitis	PMID:10376575|PMID:10923036|PMID:11168024|PMID:12820707|PMID:18782298|PMID:20021716|PMID:20551465|PMID:21966101|PMID:22327961|PMID:24440239|PMID:25735457|PMID:25741868|PMID:26437683|PMID:28492532|PMID:30760291|PMID:32819855|PMID:34350279|PMID:34740355|PMID:35857025|PMID:36834620|PMID:38271453|PMID:38388235|PMID:38966678|PMID:40013628|PMID:40981298|PMID:8530001
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:3021	acute kidney failure		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:303	substance-related disorder		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:3083	chronic obstructive pulmonary disease	disease_progression	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.M470V(human)	PMID:18652532|REF_RGD_ID:4140431
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:3225	tracheal disease		ISO	RGD:10331	D	RGD:9068941	20200609	RGD		DNA:deletion,mutation: :	PMID:18450781|REF_RGD_ID:4140433
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:3312	bipolar disorder		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:3883	Lynch syndrome		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer	PMID:26467025
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:423	myopathy		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Skeletal myopathy	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary aldosteronism	PMID:1284541|PMID:15365999|PMID:16199547|PMID:1695717|PMID:25741868|PMID:28492532|PMID:28603918|PMID:28736296|PMID:35697137|PMID:36003331|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:4483	rhinitis		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16083808
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:4500	hypokalemia		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:1284541|PMID:12955726|PMID:15365999|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28736296|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:35697137|PMID:36003331|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:4988	alcoholic pancreatitis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.L1156F, Q1352H (human)	PMID:26089335|REF_RGD_ID:11566036
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:4989	pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:12820707|PMID:18782298|PMID:20551465|PMID:21966101|PMID:22327961|PMID:24440239|PMID:25735457|PMID:25741868|PMID:26437683|PMID:28492532|PMID:30760291|PMID:32819855|PMID:34350279|PMID:34740355|PMID:35857025|PMID:36834620|PMID:38271453|PMID:38388235|PMID:38966678|PMID:40013628|PMID:40981298
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:619566	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5223	infertility		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:10439967|PMID:11219165|PMID:11354633|PMID:11883825|PMID:12752573|PMID:15537723|PMID:15727251|PMID:17489851|PMID:18687795|PMID:19318035|PMID:21198395|PMID:21520337|PMID:22427236|PMID:23951356|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28830496|PMID:31488014|PMID:31916691|PMID:31990467|PMID:32734384|PMID:33432171|PMID:33469725|PMID:33572515|PMID:34525262|PMID:34996830|PMID:35313924|PMID:35769956|PMID:36207272|PMID:36409970|PMID:37313453|PMID:38388235|PMID:7513293|PMID:7517264|PMID:9272157|PMID:9439669
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:552	pneumonia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:10639207|PMID:10963013|PMID:11280952|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:1518030|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15994263|PMID:16283068|PMID:1682496|PMID:1695717|PMID:1715308|PMID:1721624|PMID:1723032|PMID:17475917|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19176844|PMID:20021716|PMID:20301428|PMID:21097845|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21783433|PMID:21976147|PMID:22020151|PMID:2233965|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30487145|PMID:30602999|PMID:30842938|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32539862|PMID:32777524|PMID:34426522|PMID:35131845|PMID:35858753|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:7693946|PMID:9272157|PMID:9725922|PMID:9806422
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:557	kidney disease		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5733	salpingitis		ISO	RGD:10331	D	RGD:9068941	20200609	RGD			PMID:19012687|REF_RGD_ID:11566047
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5733	salpingitis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD			PMID:19012687|REF_RGD_ID:11566047
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5733	salpingitis	treatment	ISO	RGD:2332	D	RGD:9068941	20200609	RGD			PMID:19012687|REF_RGD_ID:11566047
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:5844	myocardial infarction		ISO	RGD:10331	D	RGD:9068941	20200609	RGD		associated with Myocardial Reperfusion Injury	PMID:23221371|REF_RGD_ID:11566046
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:6132	bronchitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: acute bronchitis and bronchiolitis	PMID:10639207|PMID:10963013|PMID:11280952|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:1518030|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15994263|PMID:16283068|PMID:1682496|PMID:1695717|PMID:1715308|PMID:1721624|PMID:1723032|PMID:17475917|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19176844|PMID:20021716|PMID:20301428|PMID:21097845|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21783433|PMID:21976147|PMID:22020151|PMID:2233965|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30487145|PMID:30602999|PMID:30842938|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32539862|PMID:32777524|PMID:34426522|PMID:35131845|PMID:35858753|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:7693946|PMID:9272157|PMID:9725922|PMID:9806422
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:630	genetic disease		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10200050|PMID:10376575|PMID:10875853|PMID:11796591|PMID:14551163|PMID:15070876|PMID:15287992|PMID:15371903|PMID:16272798|PMID:16840743|PMID:1695717|PMID:16980811|PMID:17003641|PMID:18456578|PMID:20977904|PMID:21520337|PMID:23276700|PMID:23974870|PMID:24451227|PMID:24697796|PMID:25033378|PMID:25087612|PMID:25735457|PMID:25741868|PMID:26354092|PMID:26467025|PMID:27026144|PMID:27673710|PMID:28492532|PMID:29174009|PMID:29589582|PMID:30190268|PMID:30420236|PMID:31310009|PMID:31682332|PMID:32143663|PMID:32773111|PMID:33322690|PMID:33919435|PMID:34426522|PMID:34583889|PMID:34782259|PMID:34949556|PMID:34996830|PMID:35527187|PMID:35652053|PMID:35913788|PMID:36207272|PMID:38388235|PMID:7691345|PMID:9150159|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:2332	D	RGD:9068941	20210528	RGD			PMID:31942562|REF_RGD_ID:126928119
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:7319	axonal neuropathy		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:767	muscular atrophy		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:77	gastrointestinal system disease	onset	ISO	RGD:1347984,RGD:1321344,RGD:730978,RGD:736532	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:mutation	PMID:29635781|REF_RGD_ID:629136812
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:8445	intestinal volvulus		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:10639207|PMID:10963013|PMID:11280952|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:15371902|PMID:15994263|PMID:1695717|PMID:1723032|PMID:1757966|PMID:18078365|PMID:18456578|PMID:20021716|PMID:20301428|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30602999|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:34426522|PMID:35131845|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:8469	influenza	treatment	ISO	RGD:10331	D	RGD:9068941	20200716	RGD			PMID:23749967|REF_RGD_ID:35673331
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:8488	polyhydramnios		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:10639207|PMID:10963013|PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1284537|PMID:1377276|PMID:1380943|PMID:14586256|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:1695717|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20021716|PMID:20301428|PMID:20865572|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25525159|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30293248|PMID:30602999|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35131845|PMID:35558347|PMID:35646184|PMID:36655002|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9725922|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lung disease	PMID:10077727|PMID:11388756|PMID:15371902|PMID:16199547|PMID:16786510|PMID:1695717|PMID:16963320|PMID:17331079|PMID:18456578|PMID:23687349|PMID:23974870|PMID:25667564|PMID:25674778|PMID:25741868|PMID:26467025|PMID:26708955|PMID:27086061|PMID:27174726|PMID:27784314|PMID:28492532|PMID:28603918|PMID:30996306|PMID:7517264|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease	disease_progression	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis; DNA:mutations: :	PMID:19952026|REF_RGD_ID:4140390
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease	onset	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human)	PMID:8535440|REF_RGD_ID:4140448
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon: p.D1152H (human)	PMID:19843100|REF_RGD_ID:4140397
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis; DNA:mutation:  :p.A455E (human)	PMID:7539891|REF_RGD_ID:4140446
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:850	lung disease	severity	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis;DNA:nonsense mutation: :p.R1162X (human)	PMID:1381442|REF_RGD_ID:4140441
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:8516	pulmonary embolism and infarction		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: pulmonary embolism and infarction	PMID:10639207|PMID:10963013|PMID:11280952|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:15371902|PMID:15994263|PMID:1695717|PMID:1723032|PMID:1757966|PMID:18078365|PMID:18456578|PMID:20021716|PMID:20301428|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30602999|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:34426522|PMID:35131845|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:899	choledochal cyst		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18988797
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10719683|PMID:10790222|PMID:10875853|PMID:11278813|PMID:11446424|PMID:12167682|PMID:12439892|PMID:12752573|PMID:1376016|PMID:15070876|PMID:15084222|PMID:15371907|PMID:15638824|PMID:16436643|PMID:17329263|PMID:18373402|PMID:18456578|PMID:19897426|PMID:20059485|PMID:20949073|PMID:22043142|PMID:22504961|PMID:22724884|PMID:22992668|PMID:23276700|PMID:23420618|PMID:2344617|PMID:23857699|PMID:23891399|PMID:23974870|PMID:25024266|PMID:25741868|PMID:25910067|PMID:28492532|PMID:28603918|PMID:29850441|PMID:31672438|PMID:36319933|PMID:4814176|PMID:9272157|PMID:9521595
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000332	Hypovolemia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypovolemia	PMID:10639207|PMID:10963013|PMID:11280952|PMID:11924117|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:1518030|PMID:15371902|PMID:15480987|PMID:15482777|PMID:15994263|PMID:16283068|PMID:1682496|PMID:1695717|PMID:1715308|PMID:1721624|PMID:1723032|PMID:17475917|PMID:1757966|PMID:18078365|PMID:18456578|PMID:19176844|PMID:20021716|PMID:20301428|PMID:21097845|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21783433|PMID:21976147|PMID:22020151|PMID:2233965|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30487145|PMID:30602999|PMID:30842938|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:32539862|PMID:32777524|PMID:34426522|PMID:35131845|PMID:35858753|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:7693946|PMID:9272157|PMID:9725922|PMID:9806422
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000590	Dyspnea		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:16199547|PMID:16596947|PMID:1695717|PMID:20059485|PMID:20659818|PMID:22658665|PMID:23276700|PMID:23974870|PMID:25741868|PMID:28492532|PMID:28603918|PMID:30548586|PMID:31126253|PMID:32429104|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000727	Syncope		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000739	Burkholderia Infections		ISO	RGD:1321344	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:mutation	PMID:28756021|REF_RGD_ID:629136813
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9001049	Staphylococcal Pneumonia		ISO	RGD:10331	D	RGD:9068941	20200716	RGD			PMID:28289144|REF_RGD_ID:36049750
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9001276	Failure to Thrive		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10639207|PMID:10719683|PMID:10790222|PMID:10875853|PMID:10963013|PMID:11186891|PMID:11278813|PMID:11280952|PMID:11446424|PMID:11484207|PMID:11924117|PMID:12007216|PMID:12124706|PMID:12167682|PMID:12357328|PMID:12439892|PMID:12752573|PMID:12767731|PMID:1284537|PMID:1376016|PMID:1377276|PMID:1380943|PMID:14586256|PMID:14685259|PMID:15070876|PMID:15084222|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15371907|PMID:15614862|PMID:15638824|PMID:15880796|PMID:15994263|PMID:16199547|PMID:16436643|PMID:16596947|PMID:1695717|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17329263|PMID:17348320|PMID:1757966|PMID:17968991|PMID:18078365|PMID:18373402|PMID:18456578|PMID:19885835|PMID:19897426|PMID:1998343|PMID:20021716|PMID:20059485|PMID:20301428|PMID:20659818|PMID:20865572|PMID:20949073|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:22043142|PMID:2236053|PMID:22504961|PMID:22658665|PMID:22724884|PMID:22975760|PMID:22992668|PMID:23276700|PMID:23420618|PMID:2344617|PMID:23613805|PMID:23751316|PMID:23857699|PMID:23891399|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24440181|PMID:25024266|PMID:25087612|PMID:25489051|PMID:25525159|PMID:25741868|PMID:25799511|PMID:25910067|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26708955|PMID:26823392|PMID:27625827|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:29590070|PMID:29850441|PMID:29924856|PMID:30293248|PMID:30548586|PMID:30602999|PMID:30877757|PMID:30888834|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31126253|PMID:31523618|PMID:31589614|PMID:31672438|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35131845|PMID:35558347|PMID:35646184|PMID:36319933|PMID:36655002|PMID:4814176|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9272157|PMID:9482579|PMID:9521595|PMID:9725922|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9001472	Nasal Polyps		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nasal polyposis	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9001733	Tinnitus		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:11168024|PMID:11933191|PMID:15070876|PMID:15638824|PMID:16635477|PMID:17003641|PMID:19324992|PMID:20100616|PMID:22094894|PMID:23974870|PMID:25735457|PMID:25741868|PMID:25754095|PMID:26467025|PMID:26671754|PMID:28492532|PMID:29669919|PMID:29805046|PMID:30046002|PMID:30888834|PMID:34996830|PMID:38388235|PMID:39532587|PMID:7683952|PMID:8627844
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9002569	Overweight		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9003133	Hypertelorism		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:619566	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:12815607|PMID:16199547|PMID:1695717|PMID:20059485|PMID:23974870|PMID:25741868|PMID:27240813|PMID:28492532|PMID:29879995|PMID:31036917|PMID:31131953|PMID:32357917|PMID:7683952|PMID:7691345|PMID:9239681|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wheezing	PMID:10228103|PMID:1695717|PMID:22892530|PMID:23974870|PMID:25741868|PMID:28492532|PMID:28603918|PMID:30888834|PMID:7508414|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9003539	Hyperacusis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9003711	Steatorrhea		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steatorrhea	PMID:16199547|PMID:1695717|PMID:23974870|PMID:24129438|PMID:25741868|PMID:28492532|PMID:28830496|PMID:30888834|PMID:35697137|PMID:38601560|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9004538	Hearing Loss		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15738290|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17347447|PMID:17348320|PMID:17576681|PMID:18456578|PMID:19550280|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23613805|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24440181|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25489051|PMID:25525159|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26553470|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:29431110|PMID:30293248|PMID:30488522|PMID:31019283|PMID:31036917|PMID:31130284|PMID:31523618|PMID:31589614|PMID:32026723|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9101293|PMID:9272157|PMID:9536098|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9004729	Nontuberculous Mycobacterium Infections		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:18703788|PMID:19858235|REF_RGD_ID:4140395|REF_RGD_ID:4140430
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9004729	Nontuberculous Mycobacterium Infections	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200716	RGD		DNA:SNP:cds:rs113857788(p.Q1352H)(human)	PMID:23514810|REF_RGD_ID:36049751
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9004866	Ataxia		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:11280952|PMID:12767731|PMID:15371902|PMID:15738290|PMID:17347447|PMID:17576681|PMID:18456578|PMID:19550280|PMID:21520337|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23613805|PMID:23751316|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24440181|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26553470|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29431110|PMID:30488522|PMID:31130284|PMID:31523618|PMID:32026723|PMID:9101293|PMID:9272157|PMID:9536098
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9005013	Calcific Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic calcifying pancreatitis	PMID:11379874|PMID:14526128|PMID:15097853|PMID:15126740|PMID:15536480|PMID:16189704|PMID:16251901|PMID:16617247|PMID:19812525|PMID:21520337|PMID:24958810|PMID:25741868|PMID:26900683|PMID:28366727|PMID:28492532|PMID:28544683|PMID:30592194|PMID:33771570|PMID:34860163
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9005369	Hepatomegaly		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:10639207|PMID:10963013|PMID:11280952|PMID:12124706|PMID:12767731|PMID:1377276|PMID:14586256|PMID:15371902|PMID:15994263|PMID:16199547|PMID:16617247|PMID:1695717|PMID:1723032|PMID:1757966|PMID:18078365|PMID:18456578|PMID:20021716|PMID:20301428|PMID:21228398|PMID:2135388|PMID:21416780|PMID:21520337|PMID:21679131|PMID:21976147|PMID:22020151|PMID:2236053|PMID:22658665|PMID:22975760|PMID:23420618|PMID:23751316|PMID:23951356|PMID:2397487|PMID:23974870|PMID:25087612|PMID:25525159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29590070|PMID:29924856|PMID:30602999|PMID:30996306|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32429104|PMID:34426522|PMID:35131845|PMID:5371902|PMID:7517267|PMID:7522901|PMID:7545856|PMID:7681035|PMID:7691345|PMID:9429141|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9005616	Micrognathism		ISO	RGD:619566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:11168024|PMID:11933191|PMID:15070876|PMID:15638824|PMID:16635477|PMID:17003641|PMID:19324992|PMID:20100616|PMID:22094894|PMID:23974870|PMID:25735457|PMID:25741868|PMID:25754095|PMID:26467025|PMID:26671754|PMID:28492532|PMID:29669919|PMID:29805046|PMID:30046002|PMID:30888834|PMID:34996830|PMID:38388235|PMID:39532587|PMID:7683952|PMID:8627844
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9005643	Experimental Diabetes Mellitus	severity	ISO	RGD:10331	D	RGD:9068941	20200609	RGD			PMID:16804061|REF_RGD_ID:2314614
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9005700	Airway Obstruction		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Airway obstruction	PMID:10798368|PMID:12007216|PMID:14998948|PMID:16189704|PMID:16963320|PMID:17272608|PMID:17481968|PMID:19014821|PMID:20846557|PMID:21416780|PMID:22483971|PMID:23076339|PMID:25741868|PMID:26199320|PMID:26467025|PMID:27728908|PMID:28492532|PMID:28603918|PMID:28801929|PMID:28830496|PMID:29216686|PMID:29805046|PMID:30698611|PMID:30888834|PMID:31672438|PMID:31674704|PMID:32404922|PMID:34996830|PMID:35109852|PMID:37818777|PMID:38388235
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with Pancreatitis;DNA:missense mutation, haplotype: :p.I556V (human)	PMID:17981921|REF_RGD_ID:11566035
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9006635	Hyponatremia		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:1284541|PMID:12955726|PMID:15365999|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28736296|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:35697137|PMID:36003331|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9006743	Spasm		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007073	Cough		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cough	PMID:10228103|PMID:16199547|PMID:1695717|PMID:22892530|PMID:23974870|PMID:24129438|PMID:25741868|PMID:28492532|PMID:28603918|PMID:28830496|PMID:30888834|PMID:35697137|PMID:38601560|PMID:7508414|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:10331	D	RGD:9068941	20200716	RGD			PMID:11390493|PMID:15039325|REF_RGD_ID:36049749|REF_RGD_ID:36049752
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1347984	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:mutation	PMID:28756021|REF_RGD_ID:629136813
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:1347984,RGD:1321344,RGD:730978	D	RGD:9068941	20251218	RGD		associated with cystic fibrosis;DNA:mutation	PMID:29635781|REF_RGD_ID:629136812
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:deletion: :F508del(human)	PMID:10767489|REF_RGD_ID:4140484
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007651	Chronic Bronchitis	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with pulmonary disease chronic obstructive; DNA:missense mutation:exon:p.R75Q(human)	PMID:15463907|REF_RGD_ID:4140475
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007661	Dwarfism		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11168024|PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:11933191|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15070876|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15638824|PMID:15994263|PMID:16199547|PMID:16617247|PMID:16635477|PMID:1695717|PMID:17003641|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19324992|PMID:19885835|PMID:1998343|PMID:20100616|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22094894|PMID:22658665|PMID:22975760|PMID:23420618|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26671754|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:29669919|PMID:29805046|PMID:30046002|PMID:30293248|PMID:30888834|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:34996830|PMID:35558347|PMID:35646184|PMID:36655002|PMID:38388235|PMID:39532587|PMID:7683952|PMID:7691345|PMID:8627844|PMID:9429141|PMID:9725922|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007722	Myoclonus		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007736	Vertigo		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007923	Back Pain		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:12955726|PMID:16051530|PMID:16189704|PMID:16196493|PMID:16199547|PMID:1695717|PMID:18456578|PMID:19318346|PMID:21354377|PMID:22545782|PMID:22859523|PMID:22992668|PMID:23687349|PMID:23891399|PMID:23951356|PMID:23974870|PMID:25741868|PMID:25826586|PMID:26467025|PMID:27717243|PMID:28492532|PMID:28546993|PMID:28603918|PMID:28801929|PMID:29279204|PMID:29504914|PMID:30134826|PMID:31016917|PMID:31036917|PMID:32429104|PMID:36467478|PMID:39857666|PMID:40065563|PMID:7691344|PMID:7691345|PMID:8910333|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9007993	Dehydration		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dehydration	PMID:1284541|PMID:15365999|PMID:16199547|PMID:1695717|PMID:25741868|PMID:28492532|PMID:28603918|PMID:28736296|PMID:35697137|PMID:36003331|PMID:7691345|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11280952|PMID:12007216|PMID:12357328|PMID:12767731|PMID:14685259|PMID:15371902|PMID:15738290|PMID:15880796|PMID:17347447|PMID:17576681|PMID:17968991|PMID:18456578|PMID:19550280|PMID:21520337|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23613805|PMID:23751316|PMID:23891399|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24440181|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25525159|PMID:25741868|PMID:25910067|PMID:26467025|PMID:26553470|PMID:26708955|PMID:27625827|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29431110|PMID:30488522|PMID:30877757|PMID:30888834|PMID:31130284|PMID:31523618|PMID:32026723|PMID:9101293|PMID:9272157|PMID:9482579|PMID:9536098
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008305	Talipes Cavus		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008385	Vomiting		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008617	Lethargy		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008675	Dyskinesias		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:11280952|PMID:12767731|PMID:15371902|PMID:15738290|PMID:17347447|PMID:17576681|PMID:18456578|PMID:19550280|PMID:21520337|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23613805|PMID:23751316|PMID:23974870|PMID:24033266|PMID:24129438|PMID:24440181|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26553470|PMID:28492532|PMID:28603918|PMID:29261177|PMID:29431110|PMID:30488522|PMID:31130284|PMID:31523618|PMID:32026723|PMID:9101293|PMID:9272157|PMID:9536098
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:619566	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory tract infection	PMID:1695717|PMID:20659818|PMID:22020151|PMID:22658665|PMID:23974870|PMID:24586523|PMID:25741868|PMID:28492532|PMID:28603918|PMID:29504914|PMID:30548586|PMID:7525450|PMID:7691345|PMID:9272157|PMID:9725922
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		associated with hyperhomocysteinemia, human gene in a mouse model	PMID:29415998|REF_RGD_ID:25671444
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1347984,RGD:736532	D	RGD:9068941	20260122	RGD		associated with cystic fibrosis;DNA:mutation	PMID:28756021|REF_RGD_ID:629136813
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:619566	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:10925568|PMID:12874665|PMID:15905293|PMID:17539902|PMID:25580864|PMID:25741868|PMID:25869325|PMID:26199320|PMID:26467025|PMID:27081564|PMID:27143075|PMID:27171515|PMID:27717243|PMID:28492532|PMID:28502372|PMID:28608624|PMID:29997923|PMID:30379828|PMID:30811104|PMID:31423445|PMID:32777524|PMID:34276759|PMID:35313924
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008972	Hyperammonemia		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:12007216|PMID:12357328|PMID:14685259|PMID:15880796|PMID:17968991|PMID:18456578|PMID:23613805|PMID:23891399|PMID:23974870|PMID:25741868|PMID:25910067|PMID:26708955|PMID:27625827|PMID:28492532|PMID:28603918|PMID:30877757|PMID:30888834|PMID:9482579
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:7240710	20180130	OMIM			
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:28978796|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34888852|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10026154|PMID:10077727|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10480369|PMID:10556281|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10668931|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10812063|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10869121|PMID:10875853|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:11001817|PMID:11005149|PMID:11025834|PMID:11055897|PMID:11069835|PMID:11101688|PMID:11137998|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11390899|PMID:11427889|PMID:11430710|PMID:11446424|PMID:11448786|PMID:11462247|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788091|PMID:11796434|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938439|PMID:11950844|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12080183|PMID:12116247|PMID:12120234|PMID:12127423|PMID:12151438|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12200467|PMID:12397022|PMID:12400067|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12578973|PMID:12624947|PMID:12658038|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12759680|PMID:12767731|PMID:12815607|PMID:1283148|PMID:12843327|PMID:1284477|PMID:1284530|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12919146|PMID:12938099|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380673|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1381723|PMID:1382316|PMID:1384321|PMID:1384326|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14685937|PMID:14872121|PMID:14963811|PMID:14993601|PMID:14998948|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:1545465|PMID:15463840|PMID:15463866|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463919|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15614862|PMID:15619635|PMID:15638824|PMID:15640323|PMID:15645635|PMID:15681482|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15716623|PMID:15738290|PMID:15744517|PMID:15744523|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15776432|PMID:15784035|PMID:15829248|PMID:15857421|PMID:15858154|PMID:15905293|PMID:15948195|PMID:15987793|PMID:15994263|PMID:16020494|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16141195|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16199547|PMID:16244288|PMID:16251901|PMID:16263954|PMID:16266832|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16484308|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:1673094|PMID:16741161|PMID:16778407|PMID:16778595|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16915933|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34782259|PMID:34860163|PMID:34888852|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18455968|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19883345|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20974851|PMID:20977904|PMID:20981092|PMID:21068670|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23104983|PMID:23168765|PMID:23206872
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:238191399|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27787503|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30805437|PMID:30811104|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32662942|PMID:32687833|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32926152|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33836782|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34952832|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35913788|PMID:36319933|PMID:5371902|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9881185|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:23104983|PMID:23168765|PMID:23206872|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23343000|PMID:23361109|PMID:23378595|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23470247|PMID:2349952|PMID:23503723|PMID:23514810|PMID:23523379|PMID:23555973|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23716676|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23810505|PMID:23837941|PMID:23846440|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:2395135|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24129438|PMID:24204751|PMID:24243928|PMID:24269240|PMID:24272871|PMID:24375076|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24517344|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24624459|PMID:24631642|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25077647|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25192979|PMID:25203624|PMID:25251442|PMID:25266159|PMID:25274949|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25383785|PMID:25403292|PMID:25443471|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569187|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25781545|PMID:25797027|PMID:25799511|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26038974|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26095523|PMID:26098992|PMID:26100556|PMID:26135562|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26335950|PMID:26348465|PMID:26364555|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26538069|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26656651|PMID:26671754|PMID:26683699|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26856995|PMID:26888287|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27158673|PMID:27171515|PMID:27214204|PMID:27222777|PMID:27264265|PMID:27298017|PMID:27324553|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27447098|PMID:27449771|PMID:27469177|PMID:27535533|PMID:27555793|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27812499|PMID:27884173|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28027573|PMID:28040058|PMID:28129809|PMID:28194692|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28422754|PMID:28440306|PMID:28456595|PMID:28465863|PMID:28469871|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020467|PMID:17020473|PMID:17035430|PMID:17048214|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17314234|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17413420|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17580535|PMID:17591940|PMID:17594397|PMID:17594398|PMID:17662673|PMID:17663888|PMID:17681820|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18193900|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18567645|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18703788|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:19014821|PMID:19017867|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19092444|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:1937486|PMID:19383231|PMID:1944451|PMID:19459534|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19710401|PMID:19734299|PMID:1977306|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19910674|PMID:19914431|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20052365|PMID:20052366|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20301773|PMID:20381036|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20920895|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20952391|PMID:20974851|PMID:20977904|PMID:20981092|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21254931|PMID:2135388|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22569626|PMID:22572128|PMID:22591852|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22842702|PMID:22892530|PMID:22942289|PMID:22975760|PMID:22981120|PMID:22992668|PMID:22995991|PMID:22999299|PMID:2300168|PMID:23027855|PMID:23055971|PMID:23067305|PMID:23076339|PMID:23082198
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:28947035|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003480|PMID:32025909|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33083013|PMID:33097431|PMID:33118704|PMID:33138774|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33470563|PMID:33502066|PMID:33512069|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33922413|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34952832|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35096544|PMID:35109852|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36207272|PMID:36264955|PMID:36293274|PMID:36319933|PMID:36409994|PMID:36458240|PMID:36552859|PMID:36567205|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36828084|PMID:36982273|PMID:37327085|PMID:37431359|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7509564|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:7542347|PMID:7542778|PMID:7543317|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9881185|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28784578|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:29099333|PMID:29099344|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29292091|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29504914|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29727070|PMID:29754320|PMID:29779145|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29859674|PMID:29924856|PMID:29936070|PMID:29944384|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30230364|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30348612|PMID:30379828|PMID:30420730|PMID:30444886|PMID:30450785|PMID:30459277|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30979466|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31019283|PMID:31028937|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31130284|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31310009|PMID:31331863|PMID:31350925|PMID:31378749|PMID:31423445|PMID:31447099|PMID:31450232|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31788424|PMID:31808782|PMID:31844968|PMID:31845523|PMID:31848897|PMID:31872980|PMID:31883651|PMID:31916691|PMID:31940241|PMID:31978131|PMID:31980526|PMID:31990467|PMID:31992191|PMID:32003480|PMID:32025909|PMID:32026723|PMID:32084388|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32155011|PMID:32172930|PMID:32185651|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32387800|PMID:32429104|PMID:32447501|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32687833|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32926152|PMID:32934006|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33138774|PMID:33144682|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33348555|PMID:33365035|PMID:33374015|PMID:33375403|PMID:33393655|PMID:33468668|PMID:33470563|PMID:33502066|PMID:33512069|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33922413|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34086689|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34583889|PMID:34680554|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34850610|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34952832|PMID:34964109|PMID:34974990|PMID:34996830|PMID:35011616|PMID:35072004|PMID:35096544|PMID:35109852|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35626323|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36142302|PMID:36207272|PMID:36264955|PMID:36272381|PMID:36293274|PMID:36319933|PMID:36372909|PMID:36409994|PMID:36458240|PMID:36552859|PMID:36567205|PMID:36631132|PMID:36650664|PMID:36670555|PMID:36828084|PMID:36969284|PMID:36982273|PMID:36986509|PMID:37000148|PMID:37274793|PMID:37327085|PMID:37431359|PMID:38388235|PMID:38493004|PMID:38695616|PMID:38825435
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:5371902|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505693|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508183|PMID:7508414|PMID:7509310|PMID:7509564|PMID:7512860|PMID:7513889|PMID:7515303|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539210|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581407|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7679367|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682884|PMID:7683628|PMID:7683952|PMID:7684641|PMID:7684646|PMID:7686336|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8213163|PMID:8343799|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8533846|PMID:8535440|PMID:8556303|PMID:8605891|PMID:8627844|PMID:8659542|PMID:8662892|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9099843|PMID:9101293|PMID:9108869|PMID:9135274|PMID:9150159|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9797105|PMID:9799593|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9917439|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10439967|PMID:10445602|PMID:10447267|PMID:10453741|PMID:10562297|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10836331|PMID:10875853|PMID:10913957|PMID:10923036|PMID:10925568|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10993719|PMID:11005149|PMID:11101688|PMID:11118444|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11668613|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12167682|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12439892|PMID:12454843|PMID:12521276|PMID:12544470|PMID:12578973|PMID:12651858|PMID:12679372|PMID:12752573|PMID:12767731|PMID:12815607|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283151|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284542|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15239534|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15390350|PMID:15463840|PMID:15463882|PMID:15463888|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15520400|PMID:15536480|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15948195|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16132229|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16251901|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16801189|PMID:1682496|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17043152|PMID:17062471|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17475917|PMID:17481968|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17662673|PMID:17673962|PMID:17716958|PMID:17825628|PMID:17850636|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18279436|PMID:18304229|PMID:18306312|PMID:18373402|PMID:18421494|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18556774|PMID:18703181|PMID:18716917|PMID:18766277|PMID:18782298|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19176844|PMID:19181854
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:19202204|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19369536|PMID:1944451|PMID:19445912|PMID:19457724|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19843100|PMID:19845690|PMID:19885835|PMID:19893581|PMID:19897426|PMID:19910674|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20233062|PMID:20301428|PMID:20301773|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20522854|PMID:20551465|PMID:20558957|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21097845|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21594800|PMID:21642448|PMID:21679131|PMID:21708286|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21909392|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22094894|PMID:2210768|PMID:22138447|PMID:22293084|PMID:22299590|PMID:22326559|PMID:22327961|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22438829|PMID:22439019|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22658665|PMID:22698459|PMID:22724884|PMID:22975760|PMID:22992668|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23378603|PMID:23381846|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23514810|PMID:23523379|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23709221|PMID:23751316|PMID:23790242|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24033266|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24525081|PMID:24583165|PMID:24586523|PMID:24697796|PMID:24762087|PMID:24958810|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25192979|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25363320|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25910067|PMID:25963003|PMID:26014425|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26199320|PMID:26208274|PMID:26258862|PMID:26277102|PMID:26334177|PMID:26354092|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26500004|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26671754|PMID:26708955|PMID:26755536|PMID:26823392|PMID:26826884|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27175795|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27447098|PMID:27469177|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27728908|PMID:27738188|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27898234|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28947035|PMID:28957316|PMID:29040544|PMID:29095814|PMID:29133775|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29360847|PMID:29431110
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:29484681|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29750258|PMID:29805046|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30046002|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30190268|PMID:30230192|PMID:30232781|PMID:30291871|PMID:30293248|PMID:30297908|PMID:30389600|PMID:30389601|PMID:30420236|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30577776|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30877757|PMID:30888834|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31420175|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31845523|PMID:31893350|PMID:31916691|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32265312|PMID:32265339|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32770779|PMID:32773111|PMID:32777524|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:3296569|PMID:33020115|PMID:33085659|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33919435|PMID:33929764|PMID:33946859|PMID:33949881|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370|PMID:34190021|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34852971|PMID:34860163|PMID:34874053|PMID:34931337|PMID:34949556|PMID:34952832|PMID:34964109|PMID:34996830|PMID:35063397|PMID:35109852|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35558347|PMID:35623009|PMID:35626323|PMID:35646184|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35857025|PMID:35858753|PMID:35913788|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36467478|PMID:36552859|PMID:36567205|PMID:36604502|PMID:36631132|PMID:36655002|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36982273|PMID:36983403|PMID:37006619|PMID:3716676|PMID:37168745|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37539852|PMID:37547293|PMID:37725210|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:38003474|PMID:38038166|PMID:38203285|PMID:38271453|PMID:38278869|PMID:38388235|PMID:38493004|PMID:38601560|PMID:38662334|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39074961|PMID:39107787|PMID:39262237|PMID:39273547|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39482189|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39857666|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7505693|PMID:7505694|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7512860|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516305|PMID:7517267|PMID:7518829|PMID:7520799|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7529962|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:7537150|PMID:7538127|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7606851|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7683952|PMID:7684644|PMID:7686820|PMID:7687986|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7693946|PMID:7868128|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8535440|PMID:8605891|PMID:8627844|PMID:8663008|PMID:8680406|PMID:8707304|PMID:8707306|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8844211|PMID:8844213|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9067761|PMID:9101293|PMID:9101301|PMID:9150159|PMID:9163660|PMID:9239681|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9459003|PMID:9482579|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9917439|PMID:9920885
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:619566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16473863
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:11186891|PMID:11280952|PMID:11484207|PMID:11924117|PMID:12767731|PMID:1284537|PMID:1380943|PMID:15334505|PMID:15357568|PMID:15371902|PMID:15614862|PMID:15994263|PMID:17127107|PMID:1712898|PMID:1723032|PMID:17348320|PMID:18456578|PMID:19885835|PMID:1998343|PMID:20301428|PMID:20865572|PMID:21228398|PMID:21520337|PMID:21679131|PMID:22020151|PMID:22658665|PMID:22975760|PMID:23751316|PMID:23891399|PMID:23951356|PMID:23974870|PMID:24440181|PMID:25087612|PMID:25489051|PMID:25741868|PMID:25799511|PMID:26075213|PMID:26208274|PMID:26467025|PMID:26823392|PMID:28492532|PMID:28603918|PMID:28655774|PMID:29208182|PMID:29261177|PMID:30293248|PMID:31019283|PMID:31036917|PMID:31523618|PMID:31589614|PMID:32220772|PMID:32429104|PMID:34190021|PMID:34426522|PMID:34874053|PMID:35558347|PMID:35646184|PMID:36655002|PMID:9917439
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9009410	cystic fibrosis-related diabetes		ISO	RGD:1321344	D	RGD:9068941	20260122	RGD		DNA:deletion:cds:p.F508del	PMID:31581148|REF_RGD_ID:630758985
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10556281|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10875876|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10993719|PMID:11005149|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11101688|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11845002|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12007216|PMID:12070257|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12133923|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12200467|PMID:12357328|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12651858|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12767731|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1283148|PMID:1283149|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284538|PMID:1284540|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15088804|PMID:15097853|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16429425|PMID:16436643|PMID:16436646
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:16442101|PMID:16443646|PMID:16478680|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17035430|PMID:17048214|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:1715308|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17692578|PMID:17716958|PMID:17718859|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18507830|PMID:18556774|PMID:18597042|PMID:18639722|PMID:18685558|PMID:18687795|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19369536|PMID:1937486|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20580320|PMID:20595578|PMID:20619026|PMID:20622033|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:21083385|PMID:21097845|PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22156145|PMID:22160394|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22724884|PMID:22768251|PMID:22859523|PMID:22892530|PMID:22942289|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23483918|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23791427|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24375076|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24525081|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25900089|PMID:25910067|PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26095523|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:27662103|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28174639|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28968805|PMID:29040544|PMID:29099333|PMID:29099344|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29279204|PMID:29298718|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30297908|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31900120|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32265312|PMID:32281737|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32483343|PMID:32512765|PMID:32539862|PMID:32662942|PMID:32674983|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086412|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34315429|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34974990|PMID:34995514|PMID:34996830|PMID:35008443|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35652053|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:35934641|PMID:35997436|PMID:36207272|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36319933|PMID:36409994|PMID:36458240|PMID:36670555|PMID:36717774|PMID:3716676|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509683|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9554753|PMID:9557894|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28068001|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:29040544|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29298718|PMID:29318594|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30022950|PMID:30030066|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30297908|PMID:30348612|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31350925|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31589614|PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31776420|PMID:31788264|PMID:31788424|PMID:31808782|PMID:31845523|PMID:31900120|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32026723|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32357917|PMID:32387800|PMID:32414100|PMID:32429104|PMID:32483343|PMID:32512765|PMID:32539862|PMID:32628927|PMID:32630527|PMID:32662942|PMID:32674983|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:33393655|PMID:33424627|PMID:33468668|PMID:33495079|PMID:33567498|PMID:33572515|PMID:33574797|PMID:33577586|PMID:33613790|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33922413|PMID:33946859|PMID:33972190|PMID:34086412|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34315429|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34583889|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34957709|PMID:34974990|PMID:34995514|PMID:34996830|PMID:35008443|PMID:35072004|PMID:35109852|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35418593|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35652053|PMID:35698092|PMID:35816621|PMID:35857025|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36319933|PMID:36369753|PMID:36372909|PMID:36409994|PMID:36458240|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36969284|PMID:36986509|PMID:37000148|PMID:37006619|PMID:3716676|PMID:37274793|PMID:37296477|PMID:37313453|PMID:38388235|PMID:38493004|PMID:38695616|PMID:38825435|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778|PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684641|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7691356|PMID:7691813|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8825494|PMID:8825927|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:10077727|PMID:10094564|PMID:10103316|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10225950|PMID:10341008|PMID:10351951|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10425036|PMID:10439967|PMID:10445602|PMID:10453741|PMID:10480369|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653141|PMID:10653145|PMID:10671057|PMID:10719683|PMID:10746558|PMID:10755189|PMID:10762539|PMID:10764788|PMID:10777364|PMID:10782933|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10801389|PMID:10819640|PMID:10827969|PMID:10834512|PMID:10836331|PMID:10866956|PMID:10869121|PMID:10875853|PMID:10875874|PMID:10875876|PMID:10878476|PMID:10909845|PMID:10913957|PMID:10922395|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11025834|PMID:11038458|PMID:11055897|PMID:11101688|PMID:11119745|PMID:11137998|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11303517|PMID:11336127|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11430710|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491162|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11547256|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11729110|PMID:11732487|PMID:11733566|PMID:11737931|PMID:11746017|PMID:11781704|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11810271|PMID:11845002|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:11950844|PMID:12000363|PMID:12007216|PMID:12014388|PMID:12070257|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12166651|PMID:12167682|PMID:12172395|PMID:12186867|PMID:12200467|PMID:12215837|PMID:12357328|PMID:12361483|PMID:12394343|PMID:12397022|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12452372|PMID:12454843|PMID:12503104|PMID:12521276|PMID:12544470|PMID:12578973|PMID:12624947|PMID:12630722|PMID:12651858|PMID:12658038|PMID:12679372|PMID:12719375|PMID:12732620|PMID:12752573|PMID:12767731|PMID:12783301|PMID:12815607|PMID:1282016|PMID:12820707|PMID:12825076|PMID:1283148|PMID:1283149|PMID:1283151|PMID:12843327|PMID:12843337|PMID:1284466|PMID:1284477|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284535|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12940920|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1370365|PMID:1370875|PMID:1371265|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380673|PMID:1380689|PMID:1380943|PMID:1381146|PMID:1381442|PMID:1382316|PMID:1384321|PMID:1384328|PMID:14526128|PMID:14586256|PMID:14618962|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15017334|PMID:15024729|PMID:15025720|PMID:15040442|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15088804|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15241793|PMID:15246977|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15354332|PMID:15357566|PMID:15357568|PMID:1536179|PMID:15365999|PMID:15367919|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15371908|PMID:15390350|PMID:1545465|PMID:15463840|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15502086|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15614862|PMID:15638824|PMID:15640323|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15705292|PMID:15727251|PMID:15729345|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15758663|PMID:15772171|PMID:15775704|PMID:15775760|PMID:15776432|PMID:15784035|PMID:15857421|PMID:15858154|PMID:15880796
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:15905293|PMID:15948195|PMID:15952991|PMID:15970608|PMID:15987793|PMID:15994263|PMID:16049310|PMID:16051530|PMID:16075239|PMID:16114821|PMID:16126774|PMID:16128988|PMID:16132229|PMID:16134171|PMID:16137181|PMID:16187186|PMID:16189704|PMID:16193325|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16244288|PMID:16251901|PMID:16266832|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16362824|PMID:16379540|PMID:16417523|PMID:16429425|PMID:16435054|PMID:16436643|PMID:16436646|PMID:16442101|PMID:16443646|PMID:16478680|PMID:16481891|PMID:16488363|PMID:16499810|PMID:16596947|PMID:16617247|PMID:16678503|PMID:1673094|PMID:16778407|PMID:1678049|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:16938751|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17015492|PMID:17020473|PMID:17035430|PMID:17048214|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:1716180|PMID:17175965|PMID:17206681|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17244607|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17380060|PMID:17398169|PMID:17407485|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17448246|PMID:17449517|PMID:17475917|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17560176|PMID:1756602|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17617039|PMID:17627383|PMID:17662673|PMID:17663888|PMID:17673962|PMID:17681820|PMID:17716958|PMID:17718859|PMID:17719933|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17901983|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18167357|PMID:18178635|PMID:18180206|PMID:18195584|PMID:18230692|PMID:18234567|PMID:18279436|PMID:18301294|PMID:18304229|PMID:18305154|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18394117|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18501000|PMID:18507830|PMID:18556774|PMID:18597042|PMID:18639722|PMID:18675692|PMID:18685558|PMID:18687795|PMID:18703181|PMID:18716917|PMID:18778819|PMID:18782298|PMID:18796364|PMID:18937943|PMID:18951463|PMID:18955805|PMID:19014055|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19092437|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19212293|PMID:19227414|PMID:19236881|PMID:19265749|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19359498|PMID:19369536|PMID:1937486|PMID:19383231|PMID:19406970|PMID:1944451|PMID:19445912|PMID:19447078|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19540513|PMID:19550280|PMID:19587087|PMID:19625452|PMID:19652440|PMID:19707853|PMID:19710401|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19774621|PMID:19810821|PMID:19812525|PMID:19823873|PMID:19833837|PMID:19837664|PMID:19843100|PMID:19845690|PMID:19846789|PMID:19878303|PMID:19880712|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910374|PMID:19910674|PMID:19914431|PMID:19914443|PMID:19925455|PMID:1997384|PMID:1998343|PMID:1999830|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20116881|PMID:20144563|PMID:20163773|PMID:20167849|PMID:20186691|PMID:20217271|PMID:20233062|PMID:20301295|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20381036|PMID:20416310|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20510657|PMID:20512161|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20595578|PMID:20619026|PMID:20622033|PMID:20628052|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20667826|PMID:20687163|PMID:20691141|PMID:20696241|PMID:20705837|PMID:20706124|PMID:20717170|PMID:20722470|PMID:20797923|PMID:20799350|PMID:20837875|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20932506|PMID:20949073|PMID:20974851|PMID:20976528|PMID:20977904|PMID:20981092|PMID:21083385|PMID:21097845
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:21111762|PMID:21131649|PMID:21152102|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21388895|PMID:21411740|PMID:21416780|PMID:21429822|PMID:21474639|PMID:21486785|PMID:21499205|PMID:21507732|PMID:21514289|PMID:21520337|PMID:21538969|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21658649|PMID:21679131|PMID:21708286|PMID:21716075|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21804385|PMID:21811577|PMID:21858268|PMID:21907281|PMID:21909392|PMID:21931512|PMID:21965669|PMID:21976147|PMID:21983161|PMID:21983488|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22047557|PMID:22094894|PMID:22103471|PMID:2210767|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22148899|PMID:22156145|PMID:22160394|PMID:2220803|PMID:22210114|PMID:22271776|PMID:22293084|PMID:22299590|PMID:22310382|PMID:22318583|PMID:22324837|PMID:22326559|PMID:22332135|PMID:2233932|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22366207|PMID:22369017|PMID:22390181|PMID:22395041|PMID:22423042|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22442927|PMID:22449949|PMID:22468138|PMID:22483971|PMID:22504961|PMID:22545782|PMID:22569626|PMID:22572128|PMID:22608296|PMID:22612315|PMID:22627569|PMID:22658665|PMID:22664493|PMID:2267887|PMID:22678879|PMID:22680785|PMID:22698459|PMID:22724884|PMID:22768251|PMID:22859523|PMID:22874010|PMID:22892530|PMID:22896710|PMID:22942289|PMID:22950544|PMID:22973227|PMID:22975760|PMID:22981120|PMID:22981294|PMID:22992668|PMID:22999299|PMID:2300168|PMID:23017188|PMID:23027855|PMID:23055971|PMID:23065710|PMID:23067305|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23206872|PMID:23240968|PMID:23261175|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23313410|PMID:23361109|PMID:23378603|PMID:23379606|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:23436935|PMID:2344617|PMID:23466340|PMID:23483918|PMID:2349952|PMID:23514810|PMID:23523379|PMID:23590265|PMID:23613805|PMID:23620589|PMID:23628510|PMID:23656801|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23721890|PMID:23751316|PMID:23757359|PMID:23757361|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23781395|PMID:2378364|PMID:23790242|PMID:23791427|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23907436|PMID:23924900|PMID:23933162|PMID:23951356|PMID:2397487|PMID:23974870|PMID:24019231|PMID:24033266|PMID:24058550|PMID:24066763|PMID:24081349|PMID:24082139|PMID:24106596|PMID:24129438|PMID:24204751|PMID:24225052|PMID:24243928|PMID:24269240|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24416359|PMID:24418186|PMID:24419263|PMID:24433235|PMID:24435787|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24461666|PMID:24513262|PMID:24517344|PMID:24525081|PMID:24556927|PMID:24559724|PMID:24586523|PMID:24631642|PMID:24633926|PMID:24696795|PMID:24697796|PMID:24727426|PMID:2475911|PMID:24762087|PMID:24784896|PMID:24813944|PMID:24816901|PMID:24958810|PMID:24973281|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25049054|PMID:25060775|PMID:25066652|PMID:25087612|PMID:25093022|PMID:25122143|PMID:25133958|PMID:25145599|PMID:25148434|PMID:25171465|PMID:25176415|PMID:25192979|PMID:25203624|PMID:25266159|PMID:25274949|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25311995|PMID:25326635|PMID:25330774|PMID:25333069|PMID:25346962|PMID:25363320|PMID:25383785|PMID:25443471|PMID:25452595|PMID:25473543|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25593612|PMID:25608981|PMID:25636364|PMID:2565038|PMID:25651269|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25682022|PMID:25688174|PMID:25697318|PMID:25697321|PMID:25698453|PMID:25704068|PMID:2570460|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25741869|PMID:25754095|PMID:25755212|PMID:25763566|PMID:25797027|PMID:25799511|PMID:25824381|PMID:25824995|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25887396|PMID:25892339|PMID:25900089|PMID:25910067
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:25940043|PMID:25963003|PMID:25981758|PMID:26006199|PMID:26014425|PMID:26070913|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26096753|PMID:26098992|PMID:26135562|PMID:26146130|PMID:26149808|PMID:26160248|PMID:26182300|PMID:26199320|PMID:26208274|PMID:26277102|PMID:26324139|PMID:26334177|PMID:26348465|PMID:26364555|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26526220|PMID:26540286|PMID:26553470|PMID:26568242|PMID:26574590|PMID:26581802|PMID:26618866|PMID:26627831|PMID:26631874|PMID:26648081|PMID:26651825|PMID:26683699|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26800689|PMID:26823392|PMID:26826884|PMID:26846474|PMID:26847993|PMID:26856987|PMID:26864378|PMID:26898888|PMID:26900683|PMID:26905352|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26976279|PMID:26989879|PMID:26990548|PMID:27022295|PMID:27081564|PMID:27086061|PMID:27131402|PMID:27143075|PMID:27145507|PMID:27157324|PMID:27158673|PMID:27160424|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27195969|PMID:27209008|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27298017|PMID:27334259|PMID:27347467|PMID:27364092|PMID:27449771|PMID:27469177|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27665964|PMID:27673710|PMID:27707539|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27745802|PMID:27773592|PMID:27805836|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27895116|PMID:27898234|PMID:27917292|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28129809|PMID:28129813|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28261631|PMID:28325531|PMID:28340353|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28419121|PMID:28440306|PMID:28448979|PMID:28465863|PMID:28475858|PMID:28492530|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28575328|PMID:28603918|PMID:28606620|PMID:28608624|PMID:28611235|PMID:28617084|PMID:28646244|PMID:28651844|PMID:28655774|PMID:28687971|PMID:28711222|PMID:28736296|PMID:28771972|PMID:28785019|PMID:28800122|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28930490|PMID:28947035|PMID:28957316|PMID:28968805|PMID:28978796|PMID:29040544|PMID:29095814|PMID:29099333|PMID:29099344|PMID:29124052|PMID:29126871|PMID:29133775|PMID:29168366|PMID:29173301|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29298718|PMID:29318594|PMID:29327948|PMID:29360847|PMID:29431110|PMID:29451946|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29581173|PMID:29589582|PMID:29590070|PMID:29614238|PMID:29668297|PMID:29669919|PMID:29685811|PMID:29727070|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30022950|PMID:30030066|PMID:30032850|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30091983|PMID:30134826|PMID:30146269|PMID:30232781|PMID:30233781|PMID:30244528|PMID:30279124|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30348612|PMID:30389601|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30540547|PMID:30548586|PMID:30561903|PMID:30592194|PMID:30600599|PMID:30602999|PMID:30606298|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30845638|PMID:30851139|PMID:30873022|PMID:30888834|PMID:30930780|PMID:30938940|PMID:30992994|PMID:30993151|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31028937|PMID:31029283|PMID:31036917|PMID:31088717|PMID:31118044|PMID:31126253|PMID:31127727|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31187952|PMID:31199594|PMID:31213628|PMID:31245908|PMID:31268981|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31345219|PMID:31350925|PMID:31420175|PMID:31447099|PMID:31450232|PMID:31488014|PMID:31508243|PMID:31523618|PMID:31589614
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:31655510|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31759907|PMID:31776420|PMID:31788264|PMID:31808782|PMID:31845523|PMID:31847883|PMID:31883651|PMID:31900120|PMID:31916691|PMID:31978131|PMID:31980526|PMID:31990467|PMID:32003480|PMID:32017858|PMID:32026723|PMID:32084388|PMID:32113160|PMID:32143663|PMID:32150665|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32256364|PMID:32265312|PMID:32281737|PMID:32292813|PMID:32352720|PMID:32357917|PMID:32366966|PMID:32387800|PMID:32404922|PMID:32414100|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32512765|PMID:32539862|PMID:32628927|PMID:32630527|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32719396|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32784480|PMID:32819855|PMID:32906206|PMID:32926152|PMID:32934006|PMID:32935393|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33095038|PMID:33097431|PMID:33118704|PMID:33144682|PMID:33160331|PMID:33195651|PMID:33260873|PMID:33270637|PMID:33341408|PMID:33365035|PMID:33374015|PMID:33393655|PMID:33424627|PMID:33432171|PMID:33442025|PMID:33468668|PMID:33470563|PMID:33495079|PMID:33502066|PMID:33512069|PMID:33567498|PMID:33572515|PMID:33577586|PMID:33613790|PMID:33663443|PMID:33669477|PMID:33686728|PMID:33713579|PMID:33768849|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33855558|PMID:33883100|PMID:33922413|PMID:33946859|PMID:33949881|PMID:33972190|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34099697|PMID:34134972|PMID:34140271|PMID:34145097|PMID:34163370|PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34315429|PMID:34350279|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34673937|PMID:34740355|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34842611|PMID:34850610|PMID:34857524|PMID:34860163|PMID:34888852|PMID:34949556|PMID:34957709|PMID:34974990|PMID:34995514|PMID:34996830|PMID:35008443|PMID:35011616|PMID:35072004|PMID:35086832|PMID:35109852|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35184981|PMID:35273129|PMID:35313924|PMID:35328596|PMID:35365085|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35585144|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35698092|PMID:35753512|PMID:35816621|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:35997436|PMID:36007526|PMID:36102402|PMID:36142302|PMID:36143206|PMID:36207272|PMID:36259570|PMID:36264955|PMID:36272381|PMID:36286063|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36372909|PMID:36409970|PMID:36409994|PMID:36437957|PMID:36458240|PMID:36552859|PMID:36604502|PMID:36631132|PMID:36655218|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36796836|PMID:36828084|PMID:36832409|PMID:36834620|PMID:36969284|PMID:36982273|PMID:36983403|PMID:36986509|PMID:37000148|PMID:37006619|PMID:37147251|PMID:3716676|PMID:37175647|PMID:37274793|PMID:37296477|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37423798|PMID:37431359|PMID:37547293|PMID:37628659|PMID:37823318|PMID:37867076|PMID:37888495|PMID:38003474|PMID:38198345|PMID:38203285|PMID:38388235|PMID:38493004|PMID:38515211|PMID:38590877|PMID:38695616|PMID:38825435|PMID:39062917|PMID:39151434|PMID:39262237|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7475569|PMID:7493947|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7505767|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509564|PMID:7509683|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516234|PMID:7517264|PMID:7517267|PMID:7517268|PMID:7518829|PMID:7520798|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522329|PMID:7522901|PMID:7525450|PMID:7525963|PMID:7526685|PMID:7526928|PMID:7529319|PMID:7529962|PMID:7532150|PMID:7533604|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7536669|PMID:7537147|PMID:7537148|PMID:7537150|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541274|PMID:7541510|PMID:7542347|PMID:7542778
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:7543317|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544320|PMID:7544788|PMID:7545856|PMID:7545869|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7560099|PMID:7573058|PMID:7581406|PMID:7581407|PMID:7586569|PMID:7599637|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680525|PMID:7680769|PMID:7681034|PMID:7681035|PMID:7682196|PMID:7682984|PMID:7683628|PMID:7683952|PMID:7683954|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7692051|PMID:7693946|PMID:7739684|PMID:7789957|PMID:7868128|PMID:7881429|PMID:8092189|PMID:8100293|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8343799|PMID:8406518|PMID:8421472|PMID:8477260|PMID:8522333|PMID:8528204|PMID:8530001|PMID:8533846|PMID:8535440|PMID:8605891|PMID:8644755|PMID:8659542|PMID:8662892|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8702904|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8723695|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8825927|PMID:8829633|PMID:8829643|PMID:8844211|PMID:8844213|PMID:8863168|PMID:8880589|PMID:8886242|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:9003498|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9084934|PMID:9099843|PMID:9101293|PMID:9101301|PMID:9135274|PMID:9147636|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9235853|PMID:9239681|PMID:9254853|PMID:9254864|PMID:9259194|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9321772|PMID:9345100|PMID:9374552|PMID:9375855|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9429141|PMID:9435322|PMID:9439669|PMID:9452048|PMID:9459003|PMID:9475107|PMID:9482579|PMID:9493456|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550361|PMID:9554753|PMID:9557894|PMID:9598638|PMID:9618063|PMID:9620832|PMID:9630075|PMID:9683582|PMID:9719631|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9799593|PMID:9804160|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9915972|PMID:9920885|PMID:9921909|PMID:9950364|PMID:9950763
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10401194|PMID:10439967|PMID:10480369|PMID:10515411|PMID:10562297|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10653145|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10913957|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11219165|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11443282|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11491164|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11788090|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12166651|PMID:12167682|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12651858|PMID:12679372|PMID:12752573|PMID:12767731|PMID:12815607|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283148|PMID:1283151|PMID:12833420|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15024729|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:15241793|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15354332|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15772171|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15905293|PMID:15948195|PMID:15994263|PMID:16046196|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16132229|PMID:16134171|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16272798|PMID:16283887|PMID:16339147|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17043152|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:17137500|PMID:17186573|PMID:1721624|PMID:1722350|PMID:1723032|PMID:17235394|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17481968|PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757965|PMID:1757966|PMID:17594398|PMID:17627383
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:17660831|PMID:17662673|PMID:17673962|PMID:17716958|PMID:17825628|PMID:17850636|PMID:17890437|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18094014|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18230692|PMID:18304229|PMID:18306312|PMID:18344710|PMID:18373402|PMID:18421494|PMID:18449561|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18556774|PMID:18687795|PMID:18703181|PMID:18766277|PMID:18782298|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19181854|PMID:19202204|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19369536|PMID:19383231|PMID:1944451|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19625487|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734299|PMID:19759008|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:19914431|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20233062|PMID:20301428|PMID:20351098|PMID:20435887|PMID:2045102|PMID:20460946|PMID:20463155|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20571109|PMID:20622033|PMID:20651897|PMID:20657600|PMID:20659818|PMID:20706124|PMID:20717170|PMID:20799350|PMID:20846557|PMID:20849526|PMID:20865572|PMID:20879059|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21097845|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21536503|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21679131|PMID:21719483|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21909392|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22094894|PMID:2210768|PMID:2210769|PMID:22138447|PMID:22138491|PMID:22293084|PMID:22299590|PMID:22324837|PMID:22326559|PMID:22327961|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22427236|PMID:22439019|PMID:22468138|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22608296|PMID:22612315|PMID:22658665|PMID:22664493|PMID:22698459|PMID:22724884|PMID:22787562|PMID:22859523|PMID:22874010|PMID:22950544|PMID:22975760|PMID:22981294|PMID:22992668|PMID:23027855|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23378603|PMID:23381846|PMID:23420618|PMID:2344617|PMID:23514810|PMID:23523379|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23751316|PMID:23758905|PMID:23765052|PMID:23775370|PMID:23790242|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24033266|PMID:24081349|PMID:24086355|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24513262|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24697796|PMID:24762087|PMID:24813944|PMID:24816901|PMID:24958810|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25192979|PMID:25242226|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25326635|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25443471|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25667564|PMID:25674778|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25910067|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320|PMID:26208274|PMID:26258862|PMID:26277102|PMID:26334177|PMID:26354092|PMID:26358851|PMID:26389801|PMID:26429520|PMID:26436105|PMID:26437683
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26795017|PMID:26823392|PMID:26826884|PMID:26830335|PMID:26847993|PMID:26856987|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27171515|PMID:27174726|PMID:27175795|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27449771|PMID:27469177|PMID:27488443|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27898234|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28196530|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28371569|PMID:28392015|PMID:28408918|PMID:28436419|PMID:28448979|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28712885|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28785019|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28863137|PMID:28947035|PMID:29040544|PMID:29095814|PMID:29124052|PMID:29133775|PMID:2915972|PMID:29173301|PMID:29174009|PMID:29178639|PMID:29202459|PMID:29208182|PMID:29212596|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29360847|PMID:29431110|PMID:29484681|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29782810|PMID:29805046|PMID:29807875|PMID:29812963|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29970830|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30190268|PMID:30232781|PMID:30293248|PMID:30296588|PMID:30297908|PMID:30389600|PMID:30389601|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30609409|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30877757|PMID:30888834|PMID:30898088|PMID:30938940|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31162888|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31345219|PMID:31350925|PMID:31420175|PMID:31450232|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31845523|PMID:31893350|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32265339|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32630227|PMID:32635564|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32773111|PMID:32777524|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:32992607|PMID:33020115|PMID:33083013|PMID:33085659|PMID:33111836|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33469725|PMID:33502066|PMID:33533914|PMID:33572515|PMID:33577586|PMID:33581080|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:33980186|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome | ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34297361|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34442373|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34761808|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34852971|PMID:34857524|PMID:34860163|PMID:34931337|PMID:34936849|PMID:34949556|PMID:34957709|PMID:34996830|PMID:35063397|PMID:35072004|PMID:35086832|PMID:35109852|PMID:35115637|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35387941|PMID:35418593|PMID:35451201|PMID:35527187|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35650428|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35764510|PMID:35769956|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:36003331|PMID:36007526|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36293274|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36549989|PMID:36552859|PMID:36582049|PMID:36599151|PMID:36604502|PMID:36631132|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36969284|PMID:36982273|PMID:36983403|PMID:37006619|PMID:3716676|PMID:37175647|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37547293|PMID:37628659|PMID:37725210|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:37923102|PMID:38003474|PMID:38038166|PMID:38073688|PMID:38167091|PMID:38203285|PMID:38271453|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38601560|PMID:38662334|PMID:38695616|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39031495|PMID:39074961|PMID:39107787|PMID:39151434|PMID:39262237|PMID:39273547|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39855646|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40682402|PMID:40794449|PMID:40981298|PMID:5371902|PMID:63921865|PMID:6840743|PMID:7472820|PMID:7477025|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506096|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7520799|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524909|PMID:7524910|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526928|PMID:7529962|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7537147|PMID:7538127|PMID:7539080|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7550227|PMID:7550243|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581407|PMID:7606851|PMID:7668304|PMID:7680378|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7682984|PMID:7683952|PMID:7683954|PMID:7686423|PMID:7686577|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689009|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7739684|PMID:7868128|PMID:8163293|PMID:8213163|PMID:8262525|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8605891|PMID:8627844|PMID:8663008|PMID:8680406|PMID:8698344|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8740923|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8844211|PMID:8844213|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9056552|PMID:9067754|PMID:9067761|PMID:9101293|PMID:9101301|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9164051|PMID:9239681|PMID:9252549|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9272738|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9417117|PMID:9439669|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9881185|PMID:9917439|PMID:9920885|PMID:9950364
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:10077727|PMID:10094564|PMID:10200050|PMID:10204861|PMID:10206682|PMID:10220340|PMID:10225950|PMID:10362539|PMID:10376575|PMID:10386624|PMID:10388469|PMID:10401194|PMID:10439967|PMID:10562297|PMID:10562541|PMID:10571949|PMID:10571955|PMID:10601093|PMID:10605524|PMID:10612827|PMID:10612849|PMID:10636451|PMID:10639207|PMID:10652351|PMID:10719683|PMID:10746558|PMID:10762539|PMID:10764788|PMID:10790220|PMID:10790222|PMID:10794365|PMID:10798368|PMID:10834512|PMID:10836331|PMID:10875853|PMID:10913957|PMID:10923036|PMID:10925568|PMID:10950058|PMID:10963013|PMID:10970190|PMID:10980579|PMID:10982968|PMID:10993719|PMID:11005149|PMID:11101688|PMID:11118444|PMID:11119745|PMID:11158459|PMID:11168024|PMID:11180668|PMID:11186891|PMID:11219165|PMID:11242048|PMID:11278813|PMID:11280952|PMID:11336401|PMID:11354633|PMID:11379874|PMID:11388756|PMID:11427889|PMID:11443282|PMID:11446424|PMID:11448786|PMID:11466205|PMID:11484207|PMID:11504857|PMID:11523757|PMID:11555145|PMID:11585852|PMID:11589722|PMID:11668613|PMID:11788090|PMID:11788611|PMID:11796434|PMID:11796591|PMID:11810271|PMID:11883825|PMID:11888281|PMID:11924117|PMID:11933191|PMID:11938353|PMID:11938439|PMID:12000363|PMID:12001283|PMID:12007216|PMID:12014388|PMID:12070264|PMID:12080183|PMID:12120234|PMID:12124706|PMID:12127423|PMID:12133923|PMID:12167682|PMID:12186867|PMID:12215837|PMID:12357328|PMID:12400067|PMID:12414835|PMID:12437773|PMID:12439892|PMID:12454843|PMID:12521276|PMID:12529365|PMID:12544470|PMID:12578973|PMID:12651858|PMID:12679372|PMID:12752573|PMID:12767731|PMID:12815607|PMID:12820707|PMID:12825076|PMID:12829453|PMID:1283151|PMID:12833420|PMID:1284529|PMID:1284531|PMID:1284534|PMID:1284537|PMID:1284538|PMID:1284540|PMID:1284541|PMID:1284542|PMID:1284639|PMID:12865275|PMID:12874665|PMID:12900515|PMID:12919146|PMID:12938099|PMID:12939655|PMID:12952861|PMID:12955726|PMID:1347644|PMID:1372093|PMID:1373935|PMID:1374052|PMID:1376016|PMID:1376017|PMID:1377276|PMID:1379210|PMID:1379211|PMID:1379413|PMID:1380943|PMID:1382316|PMID:14526128|PMID:14551163|PMID:14586256|PMID:14623323|PMID:14685259|PMID:14685937|PMID:14963811|PMID:14998948|PMID:15008989|PMID:15025720|PMID:15070876|PMID:15074370|PMID:15084222|PMID:15097853|PMID:15121783|PMID:15126740|PMID:15130785|PMID:15141088|PMID:15151509|PMID:15176679|PMID:1518030|PMID:15181619|PMID:15239534|PMID:15287992|PMID:15300780|PMID:15333598|PMID:15334505|PMID:15357568|PMID:15365999|PMID:15367921|PMID:1537190|PMID:15371902|PMID:15371903|PMID:15371907|PMID:15390350|PMID:15463840|PMID:15463866|PMID:15463882|PMID:15463888|PMID:15463898|PMID:15463906|PMID:15463907|PMID:15463917|PMID:15480987|PMID:15482777|PMID:15486385|PMID:15504721|PMID:15509635|PMID:15520400|PMID:15536480|PMID:15537723|PMID:15591474|PMID:15614862|PMID:15638824|PMID:15666307|PMID:15698945|PMID:15698946|PMID:15727251|PMID:15738290|PMID:15744517|PMID:15754262|PMID:15758663|PMID:1577217|PMID:15772171|PMID:15776432|PMID:15858154|PMID:15880796|PMID:15948195|PMID:15970608|PMID:15994263|PMID:16037690|PMID:16049310|PMID:16051530|PMID:16114821|PMID:16126774|PMID:16132229|PMID:16187186|PMID:16189704|PMID:16196493|PMID:16199547|PMID:16202790|PMID:16240056|PMID:16251901|PMID:16272798|PMID:16275171|PMID:16283068|PMID:16283887|PMID:16339147|PMID:16379540|PMID:16423550|PMID:16435054|PMID:16436643|PMID:16442101|PMID:16443646|PMID:16454991|PMID:16478680|PMID:16488363|PMID:16596947|PMID:16617247|PMID:16635477|PMID:16678503|PMID:16778407|PMID:16784904|PMID:16786510|PMID:16801189|PMID:1682496|PMID:16837565|PMID:16840743|PMID:16931591|PMID:1695717|PMID:16963320|PMID:16980811|PMID:17003641|PMID:17035430|PMID:17043152|PMID:17062471|PMID:1709778|PMID:17098482|PMID:17098864|PMID:1710599|PMID:17127107|PMID:1712898|PMID:17137500|PMID:1715308|PMID:17186573|PMID:1721624|PMID:1722350|PMID:1723032|PMID:1723056|PMID:17235394|PMID:17272608|PMID:17283574|PMID:17329263|PMID:17331079|PMID:17347447|PMID:17348320|PMID:17353351|PMID:17398169|PMID:17407489|PMID:17413420|PMID:17440499|PMID:17475917|PMID:17481968
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:17489851|PMID:17495464|PMID:17516627|PMID:17539902|PMID:17572159|PMID:17576681|PMID:1757966|PMID:17594397|PMID:17594398|PMID:17627383|PMID:17660831|PMID:17662673|PMID:17673962|PMID:17716958|PMID:17825628|PMID:17850636|PMID:17914215|PMID:17949679|PMID:17968991|PMID:17975025|PMID:18078365|PMID:18094014|PMID:18178635|PMID:18195584|PMID:18227622|PMID:18279436|PMID:18304229|PMID:18306312|PMID:18373402|PMID:18421494|PMID:18456578|PMID:18467194|PMID:18500736|PMID:18556774|PMID:18597042|PMID:18687795|PMID:18703181|PMID:18766277|PMID:18782298|PMID:18951463|PMID:18955805|PMID:19014821|PMID:19019741|PMID:1903761|PMID:19176844|PMID:19181854|PMID:19202204|PMID:19236881|PMID:19307599|PMID:19318035|PMID:19318346|PMID:19324992|PMID:19369536|PMID:1944451|PMID:19445912|PMID:19453252|PMID:19457724|PMID:19459534|PMID:19481507|PMID:19491324|PMID:19550280|PMID:19625452|PMID:19625487|PMID:19652440|PMID:19715466|PMID:19724303|PMID:19734129|PMID:19734299|PMID:19759008|PMID:19810821|PMID:19812525|PMID:19833837|PMID:19843100|PMID:19845690|PMID:19885835|PMID:19893581|PMID:19897426|PMID:1990834|PMID:19910674|PMID:1998343|PMID:2|PMID:20021716|PMID:20031113|PMID:20052365|PMID:20059485|PMID:20100616|PMID:20144563|PMID:20163773|PMID:20233062|PMID:20301428|PMID:20351098|PMID:20351101|PMID:20435887|PMID:20448091|PMID:2045102|PMID:20460946|PMID:20463155|PMID:20522854|PMID:20538955|PMID:20551465|PMID:20558957|PMID:20622033|PMID:20651897|PMID:20653504|PMID:20657600|PMID:20659818|PMID:20691141|PMID:20706124|PMID:20797923|PMID:20799350|PMID:20846557|PMID:20865572|PMID:20880762|PMID:20923678|PMID:20932301|PMID:20949073|PMID:20977904|PMID:20981092|PMID:21097845|PMID:21184098|PMID:21198395|PMID:21228398|PMID:21296036|PMID:21317048|PMID:2135388|PMID:21354377|PMID:21416780|PMID:21429822|PMID:21449922|PMID:21474639|PMID:21520337|PMID:21536503|PMID:21594800|PMID:21636331|PMID:21642448|PMID:21679131|PMID:21719483|PMID:21779199|PMID:21783433|PMID:21796730|PMID:21811577|PMID:21909392|PMID:21931512|PMID:21966101|PMID:21976147|PMID:21983161|PMID:21996038|PMID:21998193|PMID:22020151|PMID:22043142|PMID:22094894|PMID:2210768|PMID:22138447|PMID:22138491|PMID:22293084|PMID:22299590|PMID:22326559|PMID:22327961|PMID:2233965|PMID:2236053|PMID:22362925|PMID:22395041|PMID:22427236|PMID:22438829|PMID:22439019|PMID:22483971|PMID:22490504|PMID:22504961|PMID:22545782|PMID:22658665|PMID:22698459|PMID:22724884|PMID:22859523|PMID:22892530|PMID:22973227|PMID:22975760|PMID:22981294|PMID:22992668|PMID:23065710|PMID:23076339|PMID:23082198|PMID:23089694|PMID:23104983|PMID:23168765|PMID:23276700|PMID:23286748|PMID:23302613|PMID:23378603|PMID:23381846|PMID:23405520|PMID:23420618|PMID:23430892|PMID:2344617|PMID:23514810|PMID:23523379|PMID:23613805|PMID:23620589|PMID:23666117|PMID:23670503|PMID:23687349|PMID:23688510|PMID:23709221|PMID:23751316|PMID:23765052|PMID:23790242|PMID:23810505|PMID:23837941|PMID:23857699|PMID:23883480|PMID:23891399|PMID:23924900|PMID:23951356|PMID:2397487|PMID:23974870|PMID:23977124|PMID:24019231|PMID:24033266|PMID:24086355|PMID:24129438|PMID:24388274|PMID:2441227|PMID:24412276|PMID:24418186|PMID:24440181|PMID:24440239|PMID:24451227|PMID:24525081|PMID:24561283|PMID:24583165|PMID:24586523|PMID:24633926|PMID:24697796|PMID:24762087|PMID:24813944|PMID:24816901|PMID:24958810|PMID:25024266|PMID:25033378|PMID:25042876|PMID:25066652|PMID:25087612|PMID:25122143|PMID:25176415|PMID:25192979|PMID:25242226|PMID:25266159|PMID:25277268|PMID:25287046|PMID:25304080|PMID:25308578|PMID:25336128|PMID:25363320|PMID:25404111|PMID:25452595|PMID:25489051|PMID:25492507|PMID:25525159|PMID:25553309|PMID:25569440|PMID:25580864|PMID:25583415|PMID:25658530|PMID:25667564|PMID:25674778|PMID:25688174|PMID:25697318|PMID:25732475|PMID:25735457|PMID:25741868|PMID:25754095|PMID:25799511|PMID:25824381|PMID:25826586|PMID:25867140|PMID:25869325|PMID:25880441|PMID:25892339|PMID:25910067|PMID:25963003|PMID:26003067|PMID:26014425|PMID:26075213|PMID:26087176|PMID:26089335|PMID:26098992|PMID:26160248|PMID:26199320
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:26208274|PMID:26258862|PMID:26277102|PMID:26334177|PMID:26354092|PMID:26389801|PMID:26429520|PMID:26436105|PMID:26437683|PMID:26467025|PMID:26471113|PMID:26474553|PMID:26493493|PMID:26494713|PMID:26500004|PMID:26540286|PMID:26553470|PMID:26574590|PMID:26585435|PMID:26651825|PMID:26656651|PMID:26671754|PMID:26684250|PMID:26708955|PMID:26755536|PMID:26823392|PMID:26826884|PMID:26847993|PMID:26898888|PMID:26900683|PMID:26911355|PMID:26946416|PMID:26948992|PMID:26990548|PMID:27022295|PMID:27026144|PMID:27065010|PMID:27081564|PMID:27086061|PMID:27143075|PMID:27157324|PMID:27174726|PMID:27175795|PMID:27214204|PMID:27240813|PMID:27264265|PMID:27287722|PMID:27423539|PMID:27447098|PMID:27469177|PMID:27488443|PMID:27577878|PMID:27578509|PMID:27625827|PMID:27659740|PMID:27660821|PMID:27662103|PMID:27673710|PMID:27717243|PMID:27728908|PMID:27738188|PMID:27784314|PMID:27806795|PMID:27812499|PMID:27837951|PMID:27870577|PMID:27898234|PMID:28003230|PMID:28027573|PMID:28040058|PMID:28116329|PMID:28174639|PMID:28185838|PMID:28194692|PMID:28340353|PMID:28356823|PMID:28366727|PMID:28392015|PMID:28408918|PMID:28448979|PMID:28475858|PMID:28492532|PMID:28502372|PMID:28544683|PMID:28546993|PMID:28603918|PMID:28608624|PMID:28646244|PMID:28655774|PMID:28687971|PMID:28736296|PMID:28751714|PMID:28771972|PMID:28801929|PMID:28811149|PMID:28830496|PMID:28947035|PMID:29040544|PMID:29095814|PMID:29133775|PMID:29174009|PMID:29178639|PMID:29208182|PMID:29212596|PMID:29216686|PMID:29261177|PMID:29271547|PMID:29279204|PMID:29292091|PMID:29298718|PMID:29360847|PMID:29431110|PMID:29484681|PMID:29497617|PMID:29503250|PMID:29504914|PMID:29520692|PMID:29589582|PMID:29590070|PMID:29669919|PMID:29685811|PMID:29750258|PMID:29805046|PMID:29812963|PMID:29850441|PMID:29859674|PMID:29879995|PMID:29884450|PMID:29924856|PMID:29944384|PMID:29983195|PMID:29997923|PMID:30019023|PMID:30029855|PMID:30046002|PMID:30081288|PMID:30089726|PMID:30134826|PMID:30146269|PMID:30190268|PMID:30232781|PMID:30291871|PMID:30293248|PMID:30297908|PMID:30389600|PMID:30389601|PMID:30420236|PMID:30420730|PMID:30444886|PMID:30487145|PMID:30488522|PMID:30509709|PMID:30548586|PMID:30558651|PMID:30561903|PMID:30577776|PMID:30592194|PMID:30600261|PMID:30600599|PMID:30602999|PMID:30698611|PMID:30711384|PMID:30726326|PMID:30758641|PMID:30760291|PMID:30763667|PMID:30811104|PMID:30842938|PMID:30877757|PMID:30888834|PMID:30898088|PMID:30938940|PMID:30975616|PMID:30979683|PMID:30992994|PMID:30996306|PMID:31005549|PMID:31016917|PMID:31019283|PMID:31029283|PMID:31036917|PMID:31126253|PMID:31130284|PMID:31131953|PMID:31136843|PMID:31180159|PMID:31199594|PMID:31245908|PMID:31310009|PMID:31328366|PMID:31331863|PMID:31344706|PMID:31350925|PMID:31420175|PMID:31488014|PMID:31523618|PMID:31589614|PMID:31665830|PMID:31672438|PMID:31674704|PMID:31682332|PMID:31740593|PMID:31845523|PMID:31893350|PMID:31916691|PMID:31980526|PMID:31990467|PMID:32017858|PMID:32020786|PMID:32026723|PMID:32060344|PMID:32084388|PMID:32126153|PMID:32143663|PMID:32172930|PMID:32204475|PMID:32220772|PMID:32227567|PMID:32256364|PMID:32265312|PMID:32265339|PMID:32352720|PMID:32357917|PMID:32404922|PMID:32429104|PMID:32483343|PMID:32484936|PMID:32539862|PMID:32630227|PMID:32635564|PMID:32662942|PMID:32674983|PMID:32687833|PMID:32730979|PMID:32734384|PMID:32747394|PMID:32761997|PMID:32770779|PMID:32773111|PMID:32777524|PMID:32819855|PMID:32926152|PMID:32934006|PMID:32935393|PMID:3296569|PMID:32992607|PMID:33014932|PMID:33020115|PMID:33085659|PMID:33111836|PMID:33160331|PMID:33195651|PMID:33247946|PMID:33260873|PMID:33296276|PMID:33322690|PMID:33341408|PMID:33374015|PMID:33424627|PMID:33431308|PMID:33432171|PMID:33442025|PMID:33452147|PMID:33468668|PMID:33469725|PMID:33502066|PMID:33572515|PMID:33577586|PMID:33581080|PMID:33663443|PMID:33686728|PMID:33771570|PMID:33781744|PMID:33836782|PMID:33883100|PMID:33919435|PMID:33922413|PMID:33929764|PMID:33946859|PMID:33949881|PMID:33980186|PMID:34065744|PMID:34086412|PMID:34086689|PMID:34163370
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis		ISO	RGD:619566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bronchiectasis | ClinVar Annotator: match by term: Cystic Fibrosis-Like Syndrome	PMID:34190021|PMID:34196078|PMID:34276759|PMID:34296343|PMID:34350279|PMID:34377682|PMID:34405919|PMID:34426522|PMID:34525262|PMID:34557648|PMID:34583889|PMID:34600583|PMID:34673937|PMID:34714360|PMID:34740355|PMID:34761808|PMID:34764021|PMID:34782259|PMID:34814176|PMID:34852971|PMID:34857524|PMID:34860163|PMID:34874053|PMID:34931337|PMID:34936849|PMID:34949556|PMID:34957709|PMID:34996830|PMID:35008443|PMID:35063397|PMID:35086832|PMID:35109852|PMID:35115637|PMID:35119551|PMID:35131845|PMID:35171259|PMID:35273129|PMID:35313924|PMID:35418593|PMID:35451201|PMID:35468710|PMID:35527187|PMID:35558347|PMID:35573065|PMID:35623009|PMID:35626323|PMID:35628451|PMID:35646184|PMID:35652053|PMID:35697137|PMID:35698092|PMID:35753512|PMID:35764510|PMID:35769956|PMID:35857025|PMID:35858753|PMID:35913788|PMID:35934641|PMID:36003331|PMID:36038301|PMID:36102402|PMID:36142302|PMID:36207272|PMID:36259570|PMID:36293274|PMID:36319933|PMID:36335097|PMID:36369753|PMID:36409970|PMID:36409994|PMID:36437230|PMID:36437957|PMID:36467478|PMID:36552859|PMID:36604502|PMID:36631132|PMID:36655002|PMID:36670555|PMID:36717774|PMID:36751320|PMID:36828084|PMID:36834620|PMID:36982273|PMID:36983403|PMID:37006619|PMID:3716676|PMID:37168745|PMID:37310422|PMID:37313453|PMID:37327085|PMID:37422433|PMID:37431359|PMID:37443404|PMID:37448650|PMID:37539852|PMID:37547293|PMID:37725210|PMID:37761847|PMID:37777263|PMID:37818777|PMID:37833986|PMID:37867076|PMID:38003474|PMID:38038166|PMID:38073688|PMID:38203285|PMID:38271453|PMID:38352056|PMID:38388235|PMID:38493004|PMID:38601560|PMID:38662334|PMID:38933680|PMID:38956483|PMID:38966678|PMID:39074961|PMID:39107787|PMID:39151434|PMID:39262237|PMID:39273547|PMID:39296431|PMID:39345797|PMID:39402445|PMID:39482189|PMID:39532587|PMID:39570414|PMID:39598243|PMID:39857666|PMID:39919950|PMID:40013628|PMID:40065563|PMID:40122225|PMID:40128832|PMID:40981298|PMID:4814176|PMID:5371902|PMID:6840743|PMID:7472820|PMID:7477025|PMID:7504969|PMID:7505689|PMID:7505690|PMID:7505693|PMID:7505694|PMID:7506605|PMID:7508414|PMID:7509310|PMID:7509684|PMID:7509685|PMID:7512860|PMID:7512993|PMID:7513292|PMID:7513293|PMID:7513889|PMID:7515303|PMID:7516232|PMID:7516305|PMID:7517264|PMID:7517267|PMID:7518409|PMID:7518829|PMID:7520799|PMID:7521710|PMID:7521937|PMID:7522211|PMID:7522901|PMID:7524909|PMID:7524913|PMID:7525450|PMID:7525963|PMID:7526928|PMID:7529962|PMID:7532150|PMID:7534040|PMID:7534226|PMID:7534748|PMID:7535742|PMID:7537150|PMID:7538127|PMID:7539342|PMID:754013|PMID:7540133|PMID:7541273|PMID:7541274|PMID:7541510|PMID:7543385|PMID:7543567|PMID:7544319|PMID:7544788|PMID:7545856|PMID:7550227|PMID:7551394|PMID:7573058|PMID:7581390|PMID:7581406|PMID:7581407|PMID:7606851|PMID:7680769|PMID:7681035|PMID:7682196|PMID:7683952|PMID:7684643|PMID:7684644|PMID:7686423|PMID:7686820|PMID:7687986|PMID:7689008|PMID:7689013|PMID:7689897|PMID:7691344|PMID:7691345|PMID:7691352|PMID:7693946|PMID:7868128|PMID:8163293|PMID:8213163|PMID:8406518|PMID:8477260|PMID:8528204|PMID:8535440|PMID:8605891|PMID:8627844|PMID:8663008|PMID:8680406|PMID:8707304|PMID:8707306|PMID:8723694|PMID:8741733|PMID:8782047|PMID:8825494|PMID:8829633|PMID:8844211|PMID:8844213|PMID:8889582|PMID:8910333|PMID:8947061|PMID:8956039|PMID:8968585|PMID:9003508|PMID:9039981|PMID:9043501|PMID:9067754|PMID:9067761|PMID:9101293|PMID:9101301|PMID:9150159|PMID:9150843|PMID:9163660|PMID:9239681|PMID:9252549|PMID:9254864|PMID:9259197|PMID:9271620|PMID:9272157|PMID:9305991|PMID:9379898|PMID:9383031|PMID:9401006|PMID:9417117|PMID:9429141|PMID:9439669|PMID:9459003|PMID:9459534|PMID:9482579|PMID:9499426|PMID:9507391|PMID:9512029|PMID:9521595|PMID:9536098|PMID:9550362|PMID:9554753|PMID:9598638|PMID:9620832|PMID:9725922|PMID:9736775|PMID:9736778|PMID:9788722|PMID:9806422|PMID:9822639|PMID:9917439|PMID:9920885
12125759	CFTR	CF transmembrane conductance regulator	gene	DOID:9563	bronchiectasis	susceptibility	ISO	RGD:619566	D	RGD:9068941	20200609	RGD		DNA:mutations, polymorphisms:	PMID:7543317|REF_RGD_ID:4140447
12125795	THEM5	thioesterase superfamily member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125808	PPP1R11	protein phosphatase 1 regulatory inhibitor subunit 11	gene	DOID:3275	thymoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125808	PPP1R11	protein phosphatase 1 regulatory inhibitor subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125808	PPP1R11	protein phosphatase 1 regulatory inhibitor subunit 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1557732	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1557732	D	RGD:9068941	20220922	RGD			PMID:10574770|REF_RGD_ID:155226882
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:2289769	D	RGD:9068941	20220922	RGD		DNA:missense mutation:exon:334C>T (p.R112C)(human)	PMID:11062482|REF_RGD_ID:155226879
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:2289769	D	RGD:9068941	20221117	RGD		DNA:CNVs::2q21.1 (human)	PMID:25423076|REF_RGD_ID:155226881
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1557732	D	RGD:9068941	20220825	MouseDO			
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:0060856	right atrial isomerism		ISO	RGD:1557732	D	RGD:9068941	20220825	MouseDO		OMIM:208530	
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1557732	D	RGD:9068941	20220825	MouseDO		OMIM:217095	
12125818	CFC1	cryptic, EGF-CFC family member 1	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:2289769	D	RGD:9068941	20220922	RGD		DNA:hypermethylation:promoter:	PMID:24479926|REF_RGD_ID:155226880
12125836	HOXD9	homeobox D9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125836	HOXD9	homeobox D9	gene	DOID:1324	lung cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125836	HOXD9	homeobox D9	gene	DOID:3030	mucinous adenocarcinoma		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
12125836	HOXD9	homeobox D9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12125836	HOXD9	homeobox D9	gene	DOID:4362	cervical cancer		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125836	HOXD9	homeobox D9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12125836	HOXD9	homeobox D9	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
12125836	HOXD9	homeobox D9	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
12125836	HOXD9	homeobox D9	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1354432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075790
12125836	HOXD9	homeobox D9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125842	DEFB1	defensin beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12125842	DEFB1	defensin beta 1	gene	DOID:10754	otitis media		ISO	RGD:8967243	D	RGD:9068941	20200609	RGD			PMID:22072973|REF_RGD_ID:11554036
12125842	DEFB1	defensin beta 1	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:17000097|REF_RGD_ID:4892262
12125842	DEFB1	defensin beta 1	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17000097|REF_RGD_ID:4892262
12125842	DEFB1	defensin beta 1	gene	DOID:2773	contact dermatitis		ISO	RGD:737379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12125842	DEFB1	defensin beta 1	gene	DOID:2841	asthma		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)	PMID:16435024|REF_RGD_ID:4892254
12125842	DEFB1	defensin beta 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		DNA:SNP: :-1816 T>C (human)	PMID:15696078|REF_RGD_ID:4892263
12125842	DEFB1	defensin beta 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:11829455|REF_RGD_ID:1331523
12125842	DEFB1	defensin beta 1	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:16700921|REF_RGD_ID:4892251
12125842	DEFB1	defensin beta 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :668C>G (human)	PMID:15569478|REF_RGD_ID:4892257
12125842	DEFB1	defensin beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17000097|REF_RGD_ID:4892262
12125842	DEFB1	defensin beta 1	gene	DOID:552	pneumonia		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17000097|REF_RGD_ID:4892262
12125842	DEFB1	defensin beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125842	DEFB1	defensin beta 1	gene	DOID:850	lung disease	disease_progression	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;protein:decreased expression:respiratory system fluid/secretion	PMID:15463886|REF_RGD_ID:4892259
12125842	DEFB1	defensin beta 1	gene	DOID:850	lung disease	severity	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNP:5' utr:c.-20G>A (human)	PMID:21077791|REF_RGD_ID:4892247
12125842	DEFB1	defensin beta 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12125842	DEFB1	defensin beta 1	gene	DOID:9005446	Mandibular Neoplasms		ISO	RGD:737379	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:11934727|REF_RGD_ID:4892265
12125842	DEFB1	defensin beta 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619943	D	RGD:9068941	20200609	RGD			PMID:16740310|REF_RGD_ID:2312491
12125842	DEFB1	defensin beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125842	DEFB1	defensin beta 1	gene	DOID:9007041	Actinobacillus Infections		ISO	RGD:619943	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival epithelium	PMID:17076783|REF_RGD_ID:4892269
12125842	DEFB1	defensin beta 1	gene	DOID:9007417	Pseudomonas Infections	no_association	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNPs:5' utr, intron, 3' utr:multiple (human)	PMID:15820309|REF_RGD_ID:4892256
12125842	DEFB1	defensin beta 1	gene	DOID:9007417	Pseudomonas Infections	no_association	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)	PMID:20193032|REF_RGD_ID:4892248
12125842	DEFB1	defensin beta 1	gene	DOID:9007417	Pseudomonas Infections	susceptibility	ISO	RGD:737379	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNPs:5' utr:g.-52G>A, g.-44C>G, g.-20G>A (human)	PMID:17960157|REF_RGD_ID:4892250
12125842	DEFB1	defensin beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125842	DEFB1	defensin beta 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619943	D	RGD:9068941	20200609	RGD			PMID:14521940|REF_RGD_ID:4892271
12125842	DEFB1	defensin beta 1	gene	DOID:9675	pulmonary emphysema		ISO	RGD:732690	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:18699806|REF_RGD_ID:4892249
12125842	DEFB1	defensin beta 1	gene	DOID:9970	obesity		ISO	RGD:619943	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:11340353|REF_RGD_ID:4892260
12125854	PLCXD3	phosphatidylinositol specific phospholipase C X domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12125854	PLCXD3	phosphatidylinositol specific phospholipase C X domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1604168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125854	PLCXD3	phosphatidylinositol specific phospholipase C X domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1604168	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125870	IL36G	interleukin 36 gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125870	IL36G	interleukin 36 gamma	gene	DOID:1115	sarcoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125870	IL36G	interleukin 36 gamma	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12125870	IL36G	interleukin 36 gamma	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125885	LOC100686484	zinc finger protein 77	gene	DOID:4362	cervical cancer		ISO	RGD:1346753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125885	LOC100686484	zinc finger protein 77	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346753	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:3275	thymoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1323344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125902	WWP1	WW domain containing E3 ubiquitin protein ligase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323344	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1342914	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32587277
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:1909	melanoma		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1342914	D	RGD:9068941	20250724	RGD			PMID:11003705|REF_RGD_ID:1549872
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:3275	thymoma		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342914	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:9000918	Disease Progression		ISO	RGD:1342914	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32587277
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:9004441	Experimental Leukemia		ISO	RGD:1342914	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:32587277
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12125951	LAT2	linker for activation of T cells family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12125971	SPMIP2	sperm microtubule inner protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12125971	SPMIP2	sperm microtubule inner protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12125971	SPMIP2	sperm microtubule inner protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126031	SLC1A6	solute carrier family 1 member 6	gene	DOID:1115	sarcoma		ISO	RGD:732902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126031	SLC1A6	solute carrier family 1 member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:732902	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126031	SLC1A6	solute carrier family 1 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126031	SLC1A6	solute carrier family 1 member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126031	SLC1A6	solute carrier family 1 member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732902	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126044	PDCD5	programmed cell death 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126044	PDCD5	programmed cell death 5	gene	DOID:10534	stomach cancer		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126044	PDCD5	programmed cell death 5	gene	DOID:1115	sarcoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126044	PDCD5	programmed cell death 5	gene	DOID:1324	lung cancer		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12126044	PDCD5	programmed cell death 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126044	PDCD5	programmed cell death 5	gene	DOID:3070	high grade glioma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12126044	PDCD5	programmed cell death 5	gene	DOID:4362	cervical cancer		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126044	PDCD5	programmed cell death 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1321536	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126044	PDCD5	programmed cell death 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126044	PDCD5	programmed cell death 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126044	PDCD5	programmed cell death 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126044	PDCD5	programmed cell death 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321536	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126053	BRDT	bromodomain testis associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126053	BRDT	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:7240710	20190315	OMIM			
12126053	BRDT	bromodomain testis associated	gene	DOID:0070163	spermatogenic failure 21		ISO	RGD:1315431	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRDT-related condition | ClinVar Annotator: match by term: Spermatogenic failure 21 | ClinVar Annotator: match by term: spermatogenic failure 21	PMID:25741868
12126053	BRDT	bromodomain testis associated	gene	DOID:1324	lung cancer		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126053	BRDT	bromodomain testis associated	gene	DOID:14227	azoospermia		ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis:	PMID:22035730|REF_RGD_ID:9586359
12126053	BRDT	bromodomain testis associated	gene	DOID:14227	azoospermia	susceptibility	ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3088232(human)	PMID:22016351|REF_RGD_ID:9586360
12126053	BRDT	bromodomain testis associated	gene	DOID:14228	oligospermia	susceptibility	ISO	RGD:1315431	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3088232(human)	PMID:22016351|REF_RGD_ID:9586360
12126053	BRDT	bromodomain testis associated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126053	BRDT	bromodomain testis associated	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12126053	BRDT	bromodomain testis associated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126053	BRDT	bromodomain testis associated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:10534	stomach cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:1115	sarcoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:4362	cervical cancer		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126084	SPINDOC	spindlin interactor and repressor of chromatin binding	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:620160	D	RGD:9068941	20200609	RGD		associated with gastric adenocarcinoma	PMID:29588340|REF_RGD_ID:13792594
12126104	BID	BH3 interacting domain death agonist	gene	DOID:0081292	traumatic brain injury	disease_progression	ISO	RGD:620160	D	RGD:9068941	20241031	RGD			PMID:12172380|REF_RGD_ID:632018
12126104	BID	BH3 interacting domain death agonist	gene	DOID:0081292	traumatic brain injury	severity	ISO	RGD:620160	D	RGD:9068941	20241031	RGD			PMID:15307896|REF_RGD_ID:5509821
12126104	BID	BH3 interacting domain death agonist	gene	DOID:10534	stomach cancer		ISO	RGD:1346183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:620160	D	RGD:9068941	20200609	RGD			PMID:26431790|REF_RGD_ID:11537057
12126104	BID	BH3 interacting domain death agonist	gene	DOID:1793	pancreatic cancer		ISO	RGD:1346183	D	RGD:9068941	20200609	RGD			PMID:15943879|REF_RGD_ID:2317560
12126104	BID	BH3 interacting domain death agonist	gene	DOID:1824	status epilepticus		ISO	RGD:620160	D	RGD:9068941	20241031	RGD		protein:increased cleavage:hippocampus	PMID:18395616|REF_RGD_ID:408346750
12126104	BID	BH3 interacting domain death agonist	gene	DOID:1826	epilepsy	treatment	ISO	RGD:620160	D	RGD:9068941	20241107	RGD			PMID:11493022|REF_RGD_ID:408361845
12126104	BID	BH3 interacting domain death agonist	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732539	D	RGD:9068941	20200609	RGD			PMID:29440992|REF_RGD_ID:13506949
12126104	BID	BH3 interacting domain death agonist	gene	DOID:4362	cervical cancer		ISO	RGD:1346183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15289866
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1346183	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095271
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9000310	Lung Injury	disease_progression	ISO	RGD:620160	D	RGD:9068941	20241031	RGD			PMID:17786556|REF_RGD_ID:408346753
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:620160	D	RGD:9068941	20241031	RGD			PMID:17893612|REF_RGD_ID:408346749
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620160	D	RGD:9068941	20200609	RGD			PMID:19888517|REF_RGD_ID:2317562
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620160	D	RGD:9068941	20200609	RGD			PMID:19940077|REF_RGD_ID:2317561
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:620160	D	RGD:9068941	20200609	RGD		protein:increased cleavage:heart:	PMID:11934844|REF_RGD_ID:13782263
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126104	BID	BH3 interacting domain death agonist	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126113	TRIM61	tripartite motif containing 61	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126113	TRIM61	tripartite motif containing 61	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1354030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12126113	TRIM61	tripartite motif containing 61	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126113	TRIM61	tripartite motif containing 61	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:10283	prostate cancer		ISO	RGD:732733	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:10283	prostate cancer		ISO	RGD:732733	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:737444	D	RGD:9068941	20220825	MouseDO		OMIM:190400	
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126122	GABRG1	gamma-aminobutyric acid type A receptor subunit gamma1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732733	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126148	CCN3	cellular communication network factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126148	CCN3	cellular communication network factor 3	gene	DOID:0080600	COVID-19		ISO	RGD:732996	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12126148	CCN3	cellular communication network factor 3	gene	DOID:10534	stomach cancer	severity	ISO	RGD:732996	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
12126148	CCN3	cellular communication network factor 3	gene	DOID:10591	pre-eclampsia		ISO	RGD:732996	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta (human)	PMID:16675545|REF_RGD_ID:1580971
12126148	CCN3	cellular communication network factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126148	CCN3	cellular communication network factor 3	gene	DOID:2843	long QT syndrome		ISO	RGD:732996	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12126148	CCN3	cellular communication network factor 3	gene	DOID:4362	cervical cancer		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126148	CCN3	cellular communication network factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312522	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LIVER CELL CARCINOMA	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126157	ATAD2	ATPase family AAA domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126192	TMEM178A	transmembrane protein 178A	gene	DOID:1909	melanoma		ISO	RGD:1602302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126192	TMEM178A	transmembrane protein 178A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12126192	TMEM178A	transmembrane protein 178A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1332223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12126203	EED	embryonic ectoderm development	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126203	EED	embryonic ectoderm development	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320306	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12126203	EED	embryonic ectoderm development	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868
12126203	EED	embryonic ectoderm development	gene	DOID:10534	stomach cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126203	EED	embryonic ectoderm development	gene	DOID:10591	pre-eclampsia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868
12126203	EED	embryonic ectoderm development	gene	DOID:1324	lung cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126203	EED	embryonic ectoderm development	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24457600|PMID:25240281|PMID:35101336
12126203	EED	embryonic ectoderm development	gene	DOID:1612	breast cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12126203	EED	embryonic ectoderm development	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1309782	D	RGD:9068941	20200609	RGD			PMID:24007266|REF_RGD_ID:9588303
12126203	EED	embryonic ectoderm development	gene	DOID:3192	neurilemmoma		ISO	RGD:1320306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12126203	EED	embryonic ectoderm development	gene	DOID:4362	cervical cancer		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126203	EED	embryonic ectoderm development	gene	DOID:5041	esophageal cancer		ISO	RGD:1320306	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126203	EED	embryonic ectoderm development	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126203	EED	embryonic ectoderm development	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320306	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126203	EED	embryonic ectoderm development	gene	DOID:630	genetic disease		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12126203	EED	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:7240710	20190315	OMIM			
12126203	EED	embryonic ectoderm development	gene	DOID:9001209	Cohen-Gibson Syndrome		ISO	RGD:1320306	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: COHEN-GIBSON SYNDROME | ClinVar Annotator: match by term: Cohen-Gibson syndrome | ClinVar Annotator: match by term: EED-related condition	PMID:17576681|PMID:25741868|PMID:25787343|PMID:27868325|PMID:28229514|PMID:28475857|PMID:28492532|PMID:30793471|PMID:30858506|PMID:34533271|PMID:37840385|PMID:9536098
12126203	EED	embryonic ectoderm development	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
12126203	EED	embryonic ectoderm development	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12126203	EED	embryonic ectoderm development	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1320306	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25240281
12126203	EED	embryonic ectoderm development	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
12126203	EED	embryonic ectoderm development	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28475857|PMID:30793471|PMID:30858506|PMID:34533271
12126203	EED	embryonic ectoderm development	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1320307	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
12126203	EED	embryonic ectoderm development	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126203	EED	embryonic ectoderm development	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126203	EED	embryonic ectoderm development	gene	DOID:9834	hyperopia		ISO	RGD:1320306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12126223	TTPAL	alpha tocopherol transfer protein like	gene	DOID:1909	melanoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126223	TTPAL	alpha tocopherol transfer protein like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126223	TTPAL	alpha tocopherol transfer protein like	gene	DOID:4362	cervical cancer		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126223	TTPAL	alpha tocopherol transfer protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126223	TTPAL	alpha tocopherol transfer protein like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060180	colitis	treatment	ISO	RGD:1306661	D	RGD:9068941	20200609	RGD			PMID:17543437|REF_RGD_ID:2298659
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060647	fetal encasement syndrome		ISO	RGD:1315401	D	RGD:7240710	20180130	OMIM			
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0060647	fetal encasement syndrome		ISO	RGD:1315401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHUK-related condition | ClinVar Annotator: match by term: Cocoon syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:0080006	bone development disease		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10346820
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:10283	prostate cancer		ISO	RGD:1315401	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:prostate gland	PMID:26435478|REF_RGD_ID:13504773
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:10534	stomach cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:1306661	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:12849	autistic disorder		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20957522
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1324	lung cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:1909	melanoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:219	colon cancer		ISO	RGD:1315401	D	RGD:9068941	20220811	RGD		protein:increased expression:colon (human)	PMID:16774932|REF_RGD_ID:153305944
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:2526	prostate adenocarcinoma	treatment	ISO	RGD:1315402	D	RGD:9068941	20200609	RGD			PMID:26379052|REF_RGD_ID:13504774
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:2841	asthma		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD			PMID:21496385|REF_RGD_ID:5133703
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:3571	liver cancer		ISO	RGD:1315401	D	RGD:9068941	20220811	RGD		human cells in mouse model	PMID:27367027|REF_RGD_ID:153305911
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:4159	skin cancer		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD			PMID:21755017|REF_RGD_ID:13504775
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:4362	cervical cancer		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:630	genetic disease		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:674	cleft palate		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10346820
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:767	muscular atrophy	treatment	ISO	RGD:1306661	D	RGD:9068941	20200609	RGD			PMID:18827022|REF_RGD_ID:7495773
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:874	bacterial pneumonia		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD			PMID:18643924|REF_RGD_ID:5133701
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD		associated with prostate adenocarcinoma	PMID:17377533|REF_RGD_ID:2298657
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9001946	Skin Abnormalities		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9001984	Fetal Diseases		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18317887|REF_RGD_ID:2291908
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9005372	Inflammation		ISO	RGD:1315402	D	RGD:9068941	20200609	RGD			PMID:20472709|REF_RGD_ID:5133702
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10195895|PMID:10195896|PMID:10346820|PMID:20961246
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006857	Bartsocas-Papas Syndrome 2		ISO	RGD:1315401	D	RGD:7240710	20210616	OMIM			
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006857	Bartsocas-Papas Syndrome 2		ISO	RGD:1315401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1315401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961246
12126242	CHUK	component of inhibitor of nuclear factor kappa B kinase complex	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126276	TDRD1	tudor domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126276	TDRD1	tudor domain containing 1	gene	DOID:12336	male infertility		ISO	RGD:1314584	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
12126276	TDRD1	tudor domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126276	TDRD1	tudor domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126320	ZNF609	zinc finger protein 609	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349333	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35567596
12126320	ZNF609	zinc finger protein 609	gene	DOID:1324	lung cancer		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126320	ZNF609	zinc finger protein 609	gene	DOID:1909	melanoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126320	ZNF609	zinc finger protein 609	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126320	ZNF609	zinc finger protein 609	gene	DOID:4362	cervical cancer		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126320	ZNF609	zinc finger protein 609	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126320	ZNF609	zinc finger protein 609	gene	DOID:5041	esophageal cancer		ISO	RGD:1349333	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126320	ZNF609	zinc finger protein 609	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126320	ZNF609	zinc finger protein 609	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1350281	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1350281	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350281	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619828	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:9195952|REF_RGD_ID:633771
12126337	SCFD1	sec1 family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126372	TSPAN7	tetraspanin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126372	TSPAN7	tetraspanin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126372	TSPAN7	tetraspanin 7	gene	DOID:0112024	non-syndromic X-linked intellectual disability 58		ISO	RGD:1352570	D	RGD:7240710	20180130	OMIM			
12126372	TSPAN7	tetraspanin 7	gene	DOID:0112024	non-syndromic X-linked intellectual disability 58		ISO	RGD:1352570	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 58 | ClinVar Annotator: match by term: TSPAN7-related condition	PMID:25741868|PMID:28492532
12126372	TSPAN7	tetraspanin 7	gene	DOID:1059	intellectual disability		ISO	RGD:1352570	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12126372	TSPAN7	tetraspanin 7	gene	DOID:10907	microcephaly		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12126372	TSPAN7	tetraspanin 7	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12126372	TSPAN7	tetraspanin 7	gene	DOID:1115	sarcoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126372	TSPAN7	tetraspanin 7	gene	DOID:1324	lung cancer		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12126372	TSPAN7	tetraspanin 7	gene	DOID:1909	melanoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126372	TSPAN7	tetraspanin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126372	TSPAN7	tetraspanin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126372	TSPAN7	tetraspanin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12126372	TSPAN7	tetraspanin 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1352570	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12126384	CEP41	centrosomal protein 41	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1346248	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial Autism Spectrum Disorder	PMID:25741868|PMID:28492532|PMID:30664616
12126384	CEP41	centrosomal protein 41	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:7240710	20180130	OMIM			
12126384	CEP41	centrosomal protein 41	gene	DOID:0110984	Joubert syndrome 15		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEP41-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 15 | ClinVar Annotator: match by term: Joubert syndrome 15	PMID:16199547|PMID:17576681|PMID:21438139|PMID:22246503|PMID:25741868|PMID:28492532|PMID:30664616|PMID:9536098
12126384	CEP41	centrosomal protein 41	gene	DOID:0111004	Joubert syndrome 9		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 9/15, DIGENIC	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:1059	intellectual disability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12126384	CEP41	centrosomal protein 41	gene	DOID:1324	lung cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126384	CEP41	centrosomal protein 41	gene	DOID:1909	melanoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:4362	cervical cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126384	CEP41	centrosomal protein 41	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:630	genetic disease		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12126384	CEP41	centrosomal protein 41	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:9005077	Joint Instability		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126384	CEP41	centrosomal protein 41	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126384	CEP41	centrosomal protein 41	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126384	CEP41	centrosomal protein 41	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:1346248	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 12/15, DIGENIC	PMID:22246503|PMID:28492532
12126384	CEP41	centrosomal protein 41	gene	DOID:9256	colorectal cancer		ISO	RGD:1346248	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:17576681|PMID:28492532|PMID:9536098
12126405	FBXO27	F-box protein 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343305	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126405	FBXO27	F-box protein 27	gene	DOID:10534	stomach cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126405	FBXO27	F-box protein 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126405	FBXO27	F-box protein 27	gene	DOID:1115	sarcoma		ISO	RGD:1343305	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126405	FBXO27	F-box protein 27	gene	DOID:3275	thymoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126405	FBXO27	F-box protein 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126405	FBXO27	F-box protein 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126405	FBXO27	F-box protein 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:0080001	bone disease		ISO	RGD:1346204	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:29428397
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1346204	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:11204274|REF_RGD_ID:2292571
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10534	stomach cancer		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1346204	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10763	hypertension		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:21068519|REF_RGD_ID:10041072
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1346204	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-22A>G	PMID:18075463|REF_RGD_ID:2292575
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:10952	nephritis	treatment	ISO	RGD:628758	D	RGD:9068941	20200609	RGD			PMID:25176084|REF_RGD_ID:10041073
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1115	sarcoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:11713	diabetic angiopathy	treatment	ISO	RGD:628758	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:21926342|REF_RGD_ID:10041069
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1324	lung cancer		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1612	breast cancer		ISO	RGD:1346204	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:16457699|REF_RGD_ID:2292558
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1824	status epilepticus		ISO	RGD:1346204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16600505
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1824	status epilepticus		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:hippocampus, postsynaptic density	PMID:16600505|REF_RGD_ID:1581409
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:1909	melanoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:2316	brain ischemia		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:cerebral cortex	PMID:10964954|REF_RGD_ID:1642647
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:2921	glomerulonephritis		ISO	RGD:1346204	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:11774117|REF_RGD_ID:729912
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:4362	cervical cancer		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		protein:increased expression:glomerulus	PMID:11774117|REF_RGD_ID:729912
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9002514	Neointima		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		associated with Carotid Artery Injuries	PMID:22922962|REF_RGD_ID:10041068
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:hippocampus	PMID:15970382|REF_RGD_ID:1642621
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1346204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19718025
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:628758	D	RGD:9068941	20200609	RGD		associated with Hypertension;protein:increased expression, increased phosphorylation:cardiac muscle cell	PMID:12124218|REF_RGD_ID:1642607
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:628758	D	RGD:9068941	20200609	RGD			PMID:17537919|REF_RGD_ID:1642610
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733599	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:16039993|REF_RGD_ID:1642605
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126443	PTK2B	protein tyrosine kinase 2 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:1115	sarcoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:3070	high grade glioma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:4362	cervical cancer		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:5041	esophageal cancer		ISO	RGD:1605362	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126484	UBE2W	ubiquitin conjugating enzyme E2 W	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126494	PAQR5	progestin and adipoQ receptor family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126494	PAQR5	progestin and adipoQ receptor family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126494	PAQR5	progestin and adipoQ receptor family member 5	gene	DOID:1115	sarcoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126494	PAQR5	progestin and adipoQ receptor family member 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126494	PAQR5	progestin and adipoQ receptor family member 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:1115	sarcoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:1324	lung cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:1909	melanoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:3275	thymoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1347584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347584	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126512	PARP9	poly(ADP-ribose) polymerase family member 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347584	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:0060058	lymphoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322930	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126535	NKD2	NKD inhibitor of WNT signaling pathway 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:0112276	neurodevelopmental disorder with involuntary movements		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with involuntary movements	PMID:25741868
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:10907	microcephaly		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:1969	cerebral palsy		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:535	sleep disorder		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603597	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9005399	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES		ISO	RGD:1603597	D	RGD:7240710	20220316	OMIM			
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9005399	DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Developmental delay with variable neurologic and brain abnormalities | ClinVar Annotator: match by term: LMBRD2-related condition | ClinVar Annotator: match by term: LMBRD2-related disorder	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9005841	Epidermal Cyst		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermoid cysts	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603597	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32820033
12126547	LMBRD2	LMBR1 domain containing 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1603597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:32820033
12126579	FAM118B	family with sequence similarity 118 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126579	FAM118B	family with sequence similarity 118 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603013	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126579	FAM118B	family with sequence similarity 118 member B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12126600	UNKL	unk like zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126600	UNKL	unk like zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126600	UNKL	unk like zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126600	UNKL	unk like zinc finger	gene	DOID:3275	thymoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126600	UNKL	unk like zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1604323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126600	UNKL	unk like zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126600	UNKL	unk like zinc finger	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12126600	UNKL	unk like zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126600	UNKL	unk like zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:0110702	hypotrichosis 5		ISO	RGD:1318007	D	RGD:7240710	20200408	OMIM			
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:0110702	hypotrichosis 5		ISO	RGD:1318007	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPS8L3-related condition | ClinVar Annotator: match by term: Hypotrichosis 5	PMID:23099647|PMID:25741868|PMID:28492532
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:10534	stomach cancer		ISO	RGD:1318007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12126630	EPS8L3	EPS8 signaling adaptor L3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223546
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0060058	lymphoma		ISO	RGD:68552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:0111235	congenital muscular dystrophy-dystroglycanopathy type A12		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12	PMID:25741868|PMID:8943043
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:423	myopathy		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:8943043
12126656	CACNB1	calcium voltage-gated channel auxiliary subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:1324	lung cancer		ISO	RGD:1602652	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:1909	melanoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1602652	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126677	DIPK1B	divergent protein kinase domain 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602652	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126695	TLR7	toll like receptor 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126695	TLR7	toll like receptor 7	gene	DOID:0080162	lupus nephritis		ISO	RGD:1558497	D	RGD:9068941	20200609	RGD			PMID:19944565|REF_RGD_ID:7246905
12126695	TLR7	toll like receptor 7	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1353456	D	RGD:9068941	20210625	RGD		DNA:SNPs:Cds:	PMID:33650967|REF_RGD_ID:127284891
12126695	TLR7	toll like receptor 7	gene	DOID:0081013	severe COVID-19		ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNP:exon:p.Q11L (rs179008)	PMID:39861824|REF_RGD_ID:629146879
12126695	TLR7	toll like receptor 7	gene	DOID:0081013	severe COVID-19		ISO	RGD:1353456	D	RGD:9068941	20260117	RGD		mRNA:decreased expression:blood	PMID:33780352|REF_RGD_ID:630350570
12126695	TLR7	toll like receptor 7	gene	DOID:0081013	severe COVID-19	susceptibility	ISO	RGD:1353456	D	RGD:9068941	20260115	RGD		mRNA:increased expression:peripheral blood mononuclear cells	PMID:38868379|REF_RGD_ID:630350401
12126695	TLR7	toll like receptor 7	gene	DOID:0112063	X-Linked immunodeficiency 74		ISO	RGD:1353456	D	RGD:7240710	20200902	OMIM			
12126695	TLR7	toll like receptor 7	gene	DOID:0112063	X-Linked immunodeficiency 74		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 74, COVID-19-related, X-linked | ClinVar Annotator: match by term: TLR7-related condition	PMID:25741868|PMID:28492532|PMID:32706371|PMID:34952932|PMID:35708626
12126695	TLR7	toll like receptor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:1115	sarcoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1353456	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
12126695	TLR7	toll like receptor 7	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1353456	D	RGD:9068941	20200609	RGD		associated with Bronchiolitis; mRNA:increased expression:nasopharynx (human)	PMID:19386802|REF_RGD_ID:5129471
12126695	TLR7	toll like receptor 7	gene	DOID:1324	lung cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:1470	major depressive disorder		ISO	RGD:1353456	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:blood	PMID:25226551|REF_RGD_ID:634888054
12126695	TLR7	toll like receptor 7	gene	DOID:1574	alcohol use disorder		ISO	RGD:1353456	D	RGD:9068941	20250125	RGD		mRNA:increased expression:orbitofrontal cortex	PMID:34415075|REF_RGD_ID:597538499
12126695	TLR7	toll like receptor 7	gene	DOID:1883	hepatitis C		ISO	RGD:1353456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27385120
12126695	TLR7	toll like receptor 7	gene	DOID:1909	melanoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:2841	asthma	sexual_dimorphism	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNPs, haplotypes: :multiple	PMID:18682521|REF_RGD_ID:629146883
12126695	TLR7	toll like receptor 7	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1558497	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (mouse)	PMID:18256364|REF_RGD_ID:7246909
12126695	TLR7	toll like receptor 7	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1353456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12126695	TLR7	toll like receptor 7	gene	DOID:3310	atopic dermatitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNPs, haplotypes: :multiple	PMID:18682521|REF_RGD_ID:629146883
12126695	TLR7	toll like receptor 7	gene	DOID:4362	cervical cancer		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:4481	allergic rhinitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNPs, haplotypes: :multiple	PMID:22857391|REF_RGD_ID:629146882
12126695	TLR7	toll like receptor 7	gene	DOID:4483	rhinitis	sexual_dimorphism	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNPs, haplotypes: :multiple	PMID:18682521|REF_RGD_ID:629146883
12126695	TLR7	toll like receptor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126695	TLR7	toll like receptor 7	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1563357	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ileum	PMID:19608731|REF_RGD_ID:5128779
12126695	TLR7	toll like receptor 7	gene	DOID:9000889	Escherichia Coli Meningitis		ISO	RGD:1558497	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:12781911|REF_RGD_ID:7794740
12126695	TLR7	toll like receptor 7	gene	DOID:9000955	Acute Otitis Media	sexual_dimorphism	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		associated with rhinovirus infections;DNA: SNP: : p.Q11L (rs179008)	PMID:28403045|REF_RGD_ID:629146884
12126695	TLR7	toll like receptor 7	gene	DOID:9001314	Systemic Lupus Erythematosus 17		ISO	RGD:1353456	D	RGD:7240710	20220518	OMIM			
12126695	TLR7	toll like receptor 7	gene	DOID:9001314	Systemic Lupus Erythematosus 17		ISO	RGD:1353456	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SYSTEMIC LUPUS ERYTHEMATOSUS 17 | ClinVar Annotator: match by term: Systemic lupus erythematosus 17	PMID:25741868|PMID:28492532|PMID:35477763
12126695	TLR7	toll like receptor 7	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1353456	D	RGD:9068941	20200609	RGD		associated with Rhinosinusitis;mRNA,protein:increased expression:	PMID:23157229|REF_RGD_ID:7800741
12126695	TLR7	toll like receptor 7	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:1353456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22916010
12126695	TLR7	toll like receptor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12126695	TLR7	toll like receptor 7	gene	DOID:9007575	chronic rhinosinusitis with nasal polyps		ISO	RGD:1353456	D	RGD:9068941	20260115	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:26518209|REF_RGD_ID:630350565
12126695	TLR7	toll like receptor 7	gene	DOID:9009407	rhinovirus infections	susceptibility	ISO	RGD:1353456	D	RGD:9068941	20260108	RGD		DNA:SNP: :p.Q11L (rs179008)	PMID:28403045|REF_RGD_ID:629146884
12126695	TLR7	toll like receptor 7	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:38324161
12126695	TLR7	toll like receptor 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12126706	NANP	N-acetylneuraminic acid phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126706	NANP	N-acetylneuraminic acid phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126706	NANP	N-acetylneuraminic acid phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:1324	lung cancer		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:3393	coronary artery disease		ISO	RGD:1319381	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1319381	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12126712	ANKS1A	ankyrin repeat and sterile alpha motif domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126757	PRPSAP1	phosphoribosyl pyrophosphate synthetase associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126772	ZNF334	zinc finger protein 334	gene	DOID:10534	stomach cancer		ISO	RGD:1318499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126772	ZNF334	zinc finger protein 334	gene	DOID:5041	esophageal cancer		ISO	RGD:1318499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126772	ZNF334	zinc finger protein 334	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126772	ZNF334	zinc finger protein 334	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126781	FANCG	FA complementation group G	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1350702	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
12126781	FANCG	FA complementation group G	gene	DOID:0060058	lymphoma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:11093276|PMID:12552564|PMID:16199547|PMID:24584348|PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1350702	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant	PMID:11438206|PMID:16643430|PMID:24728327|PMID:25741868|PMID:26740942|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:0111086	Fanconi anemia complementation group G		ISO	RGD:1350702	D	RGD:7240710	20180130	OMIM			
12126781	FANCG	FA complementation group G	gene	DOID:0111086	Fanconi anemia complementation group G		ISO	RGD:1350702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FANCG-related disorder | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP G | ClinVar Annotator: match by term: Fanconi anemia complementation group G | ClinVar Annotator: match by term: Fanconi anemia, complementation group G	PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24037726|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28492532|PMID:28678401|PMID:28717661|PMID:29625052|PMID:29905759|PMID:30031030|PMID:30792206|PMID:31558676|PMID:31586946|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33718801|PMID:34585473|PMID:35417938|PMID:36463940|PMID:36900003|PMID:9536098|PMID:9806548
12126781	FANCG	FA complementation group G	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1350702	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:10534	stomach cancer		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126781	FANCG	FA complementation group G	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126781	FANCG	FA complementation group G	gene	DOID:11830	myopia		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:12176	goiter		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:1324	lung cancer		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126781	FANCG	FA complementation group G	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350702	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16643430|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548
12126781	FANCG	FA complementation group G	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350702	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:09806548|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29905759|PMID:30031030|PMID:31558676|PMID:32546565|PMID:33563768|PMID:9536098|PMID:9806548
12126781	FANCG	FA complementation group G	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350702	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11126723|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:16643430|PMID:17010390|PMID:17576681|PMID:17924555|PMID:19102630|PMID:20301575|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24136620|PMID:24300640|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26740942|PMID:26968956|PMID:27041517|PMID:28024295|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:28767289|PMID:29154021|PMID:29905759|PMID:30031030|PMID:31558676|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:9536098|PMID:9806548
12126781	FANCG	FA complementation group G	gene	DOID:13636	Fanconi anemia		ISO	RGD:1350702	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:09806548|PMID:10567393|PMID:10807541|PMID:10961856|PMID:11093276|PMID:11438206|PMID:12552564|PMID:12673805|PMID:15657175|PMID:16084127|PMID:16199547|PMID:16621732|PMID:17010390|PMID:17576681|PMID:17924555|PMID:21659346|PMID:22778927|PMID:23067021|PMID:23613520|PMID:24033266|PMID:24037726|PMID:24136620|PMID:24584348|PMID:24728327|PMID:24763404|PMID:24989076|PMID:25703136|PMID:25741868|PMID:26689913|PMID:26968956|PMID:27041517|PMID:28102861|PMID:28202063|PMID:28492532|PMID:28678401|PMID:28717661|PMID:29154021|PMID:29905759|PMID:30031030|PMID:30792206|PMID:31558676|PMID:31586946|PMID:31839986|PMID:32546565|PMID:32947577|PMID:33563768|PMID:33718801|PMID:34422195|PMID:34585473|PMID:36463940|PMID:9536098|PMID:9806548
12126781	FANCG	FA complementation group G	gene	DOID:1793	pancreatic cancer		ISO	RGD:1350702	D	RGD:9068941	20200609	RGD			PMID:16243825|REF_RGD_ID:2317238
12126781	FANCG	FA complementation group G	gene	DOID:1909	melanoma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126781	FANCG	FA complementation group G	gene	DOID:2394	ovarian cancer		ISO	RGD:1350702	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:2841	asthma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:3275	thymoma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126781	FANCG	FA complementation group G	gene	DOID:403	mouth disease		ISO	RGD:1350702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
12126781	FANCG	FA complementation group G	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1350702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	
12126781	FANCG	FA complementation group G	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126781	FANCG	FA complementation group G	gene	DOID:630	genetic disease		ISO	RGD:1350702	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:7998	hyperthyroidism		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126781	FANCG	FA complementation group G	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12126781	FANCG	FA complementation group G	gene	DOID:9970	obesity		ISO	RGD:1350702	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12126824	CLDN23	claudin 23	gene	DOID:3310	atopic dermatitis		ISO	RGD:1319100	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:epidermis:	PMID:21163515|REF_RGD_ID:11344875
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:405875144	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: KCNQ1-related condition	PMID:21910219|PMID:25427884|PMID:28492532
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126829	LMNTD2	lamin tail domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603159	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126862	TLN1	talin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12126862	TLN1	talin 1	gene	DOID:0050731	vitamin B12 deficiency		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cobalamin deficiency	PMID:25741868
12126862	TLN1	talin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12126862	TLN1	talin 1	gene	DOID:0060058	lymphoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12126862	TLN1	talin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12126862	TLN1	talin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12126862	TLN1	talin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12126862	TLN1	talin 1	gene	DOID:1115	sarcoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12126862	TLN1	talin 1	gene	DOID:11476	osteoporosis		ISO	RGD:1314756	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12126862	TLN1	talin 1	gene	DOID:1324	lung cancer		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12126862	TLN1	talin 1	gene	DOID:13382	megaloblastic anemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megaloblastic anemia	PMID:25741868
12126862	TLN1	talin 1	gene	DOID:14400	capillary leak syndrome		ISO	RGD:1314756	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Capillary leak syndrome	PMID:25741868
12126862	TLN1	talin 1	gene	DOID:1909	melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12126862	TLN1	talin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
12126862	TLN1	talin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12126862	TLN1	talin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12126862	TLN1	talin 1	gene	DOID:3275	thymoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12126862	TLN1	talin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12126862	TLN1	talin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12126862	TLN1	talin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12126862	TLN1	talin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1314756	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12126862	TLN1	talin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12126862	TLN1	talin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12126862	TLN1	talin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12126862	TLN1	talin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12126862	TLN1	talin 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314756	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12126862	TLN1	talin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12126862	TLN1	talin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12126862	TLN1	talin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1314756	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21291860
12126862	TLN1	talin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12126862	TLN1	talin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12126862	TLN1	talin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314756	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127017	RNF130	ring finger protein 130	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:10534	stomach cancer		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127017	RNF130	ring finger protein 130	gene	DOID:1909	melanoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127017	RNF130	ring finger protein 130	gene	DOID:3070	high grade glioma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127017	RNF130	ring finger protein 130	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:4362	cervical cancer		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127017	RNF130	ring finger protein 130	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1343865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12127017	RNF130	ring finger protein 130	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127017	RNF130	ring finger protein 130	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127017	RNF130	ring finger protein 130	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:1115	sarcoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:1324	lung cancer		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:1909	melanoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:3275	thymoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1313449	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127030	SUPT3H	SPT3 homolog, SAGA and STAGA complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313449	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0001816	angiosarcoma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:blood vessel	PMID:18700251|REF_RGD_ID:8694308
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30481203
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22684844|REF_RGD_ID:6892915
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:16199547|PMID:20159255|PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24090995
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:69005	D	RGD:9068941	20220825	MouseDO			
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:23619365|REF_RGD_ID:7495791
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10618415|PMID:24448315
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050744	anaplastic large cell lymphoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22155737
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050751	T-cell large granular lymphocyte leukemia		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: T-LGL Leukemia	PMID:21690253|PMID:22591296|PMID:22859607|PMID:23926297|PMID:25741868|PMID:25873174|PMID:26702067|PMID:28492532|PMID:29162862|PMID:29180260|PMID:30940614|PMID:31737384|PMID:31770611|PMID:31771617|PMID:32231398|PMID:35101336|PMID:36228738|PMID:36240433|PMID:36630607
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050902	medulloblastoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19001435
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0060058	lymphoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0060071	pre-malignant neoplasm	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23596790|REF_RGD_ID:8694319
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0060249	scoliosis		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22859607|REF_RGD_ID:6892715
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0061160	infantile onset multisystem autoimmune disease 1		ISO	RGD:737517	D	RGD:7240710	20180130	OMIM			
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0061160	infantile onset multisystem autoimmune disease 1		ISO	RGD:737517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 | ClinVar Annotator: match by term: Autoimmune disease, multisystem, infantile-onset, 1 | ClinVar Annotator: match by term: STAT3-related disorder | ClinVar Annotator: match by term: STAT3-related early-onset multisystem autoimmune disease	PMID:17676033|PMID:17881745|PMID:17942886|PMID:21324546|PMID:22581330|PMID:24033266|PMID:24452316|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25741868|PMID:27345172|PMID:28072956|PMID:28492532|PMID:28579554|PMID:29296824|PMID:29330115
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0070113	Niemann-Pick disease type C1	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:21176403|REF_RGD_ID:10403054
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:3772	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:18782535|REF_RGD_ID:6483030
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080545	hyper IgE syndrome		ISO	RGD:737517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyper IgE Syndrome | ClinVar Annotator: match by term: Hyper-IgE syndrome	PMID:17881745|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19577286|PMID:20032313|PMID:20159255|PMID:20816194|PMID:21107604|PMID:21288777|PMID:21792878|PMID:22030463|PMID:22126402|PMID:22751495|PMID:23584561|PMID:23584591|PMID:25359994|PMID:25741868|PMID:26384563|PMID:27226025|PMID:27488252|PMID:27799162|PMID:27980540|PMID:28315006|PMID:28492532|PMID:29077208|PMID:29162862|PMID:29868029|PMID:30617622|PMID:31468318|PMID:31717342|PMID:32662942|PMID:33365035|PMID:33463136|PMID:33717144|PMID:35753512|PMID:40246075
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19796711
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0080797	nasal type extranodal NK/T-cell lymphoma		ISO	RGD:737517	D	RGD:9068941	20220729	RGD		protein:increased expression:nasal cavity (human)	PMID:17225522|REF_RGD_ID:153298933
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: T-cell lymphoma	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:15374974|REF_RGD_ID:8694291
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10286	prostate carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:18210874|REF_RGD_ID:2291910
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10286	prostate carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased activity:prostate gland	PMID:11987152|REF_RGD_ID:2298538
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1040	chronic lymphocytic leukemia		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:peripheral blood mononuclear cell	PMID:29658610|REF_RGD_ID:21081544
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10534	stomach cancer		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:737517	D	RGD:9068941	20210611	RGD		human cells in mouse model	PMID:29408335|REF_RGD_ID:127284846
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69005	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:dentate gyrus, CA1 field of hippocampus	PMID:18813209|REF_RGD_ID:10403051
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:dentate gyrus	PMID:18813209|REF_RGD_ID:10403051
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737517	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36115647
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1107	esophageal carcinoma	treatment	ISO	RGD:737517	D	RGD:9068941	20210625	RGD		associated with Immune Deficiency Disease, human cells in mouse model	PMID:25724470|REF_RGD_ID:127285656
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1115	sarcoma		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:114	heart disease	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD		associated with Shock, Septic	PMID:23404057|REF_RGD_ID:8694329
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1227	neutropenia		ISO	RGD:3772	D	RGD:9068941	20200609	RGD		associated with T-cell large granular lymphocyte leukemia	PMID:22591296|REF_RGD_ID:6892936
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:12849	autistic disorder		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:19766327|REF_RGD_ID:6483028
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28253502|PMID:28492532|PMID:29330115
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1324	lung cancer		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:13241	Behcet's disease		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2293152 (human)	PMID:22205606|REF_RGD_ID:6483021
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs744166, rs2293152 (human)	PMID:23127549|REF_RGD_ID:8694309
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:14262	oral candidiasis		ISO	RGD:737517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oral candidiasis	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:22591296|PMID:22859607|PMID:24350896|PMID:24995504|PMID:25586472|PMID:28356514|PMID:28492532|PMID:28977911|PMID:30910759|PMID:31558678|PMID:31717342|PMID:31774495|PMID:32278856|PMID:33579790|PMID:34137790|PMID:35101336
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1508	candidiasis		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Candidiasis	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:69005	D	RGD:9068941	20250403	RGD		mRNA:increased expression:cerebral cortex (females only, mouse)	PMID:32937997|REF_RGD_ID:598099545
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1588	thrombocytopenia		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1596	depressive disorder		ISO	RGD:69005	D	RGD:9068941	20210507	RGD		protein:increased phosphorylation:hippocampus (mouse)	PMID:31396300|REF_RGD_ID:126908003
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22374428|REF_RGD_ID:8694288
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:snp	PMID:17639043|REF_RGD_ID:2291912
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1612	breast cancer	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:15374974|PMID:21740845|REF_RGD_ID:8694286|REF_RGD_ID:8694291
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1657	ventricular septal defect		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1724	duodenal ulcer		ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:24385009|REF_RGD_ID:8694318
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566705|PMID:26432044
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1749	squamous cell carcinoma	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:skin	PMID:16043897|REF_RGD_ID:8694300
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22348037|PMID:23845849
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1920	hyperuricemia	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23442673|REF_RGD_ID:10411892
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1936	atherosclerosis		ISO	RGD:3772	D	RGD:9068941	20230615	RGD		associated with type 2 diabetes mellitus; mRNA, protein:increased expression, increased phosphorylation:aorta, blood serum (rat)	PMID:33889291|REF_RGD_ID:329849122
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1936	atherosclerosis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19330073
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:737517	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS: (rs2293152) (human)	PMID:22121102|REF_RGD_ID:153323313
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17937859|REF_RGD_ID:2291911
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:737517	D	RGD:9068941	20220217	RGD		human cells in mouse model	PMID:29899555|REF_RGD_ID:151356919
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:219	colon cancer	treatment	ISO	RGD:3772	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23764464|REF_RGD_ID:8694326
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:224	transient cerebral ischemia	exacerbates	ISO	RGD:3772	D	RGD:9068941	20230406	RGD			PMID:23884942|REF_RGD_ID:8694331
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2316	brain ischemia		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17901229
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:234	colon adenocarcinoma	treatment	ISO	RGD:737517	D	RGD:9068941	20210528	RGD		human cells in mouse model	PMID:32504672|REF_RGD_ID:125097526
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2355	anemia		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2394	ovarian cancer	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:25319391|REF_RGD_ID:19165135
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2772	irritant dermatitis	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:21511023|REF_RGD_ID:8694305
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:2914	immune system disease		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of immune system physiology	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:299	adenocarcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472|PMID:26432044
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3044	food allergy		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Food allergy	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3049	Churg-Strauss syndrome		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22772323|REF_RGD_ID:6892720
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:305	carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:737517	D	RGD:9068941	20220414	RGD		mRNA, protein:increased expression:brain (human)	PMID:31783691|REF_RGD_ID:151667907
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3261	autosomal dominant hyper-IgE syndrome 1 with recurrent infections		ISO	RGD:737517	D	RGD:7240710	20180130	OMIM			
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3261	autosomal dominant hyper-IgE syndrome 1 with recurrent infections		ISO	RGD:737517	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal Dominant Hyper IgE Syndrome | ClinVar Annotator: match by term: HYPER-IgE SYNDROME 1, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1 | ClinVar Annotator: match by term: Hyper-IgE recurrent infection syndrome 1, autosomal dominant | ClinVar Annotator: match by term: STAT3-Related Conditions	PMID:16199547|PMID:17576681|PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:19348930|PMID:19483664|PMID:19577286|PMID:20032313|PMID:20048285|PMID:20093388|PMID:20159255|PMID:20301786|PMID:20816194|PMID:21288777|PMID:21300911|PMID:21324546|PMID:21792878|PMID:22030463|PMID:22084479|PMID:22126402|PMID:22533245|PMID:22581330|PMID:22591296|PMID:22751495|PMID:22859607|PMID:22992060|PMID:23584561|PMID:23659370|PMID:23830147|PMID:24033266|PMID:24260974|PMID:24350896|PMID:24452316|PMID:24627079|PMID:24628715|PMID:24797340|PMID:24995504|PMID:25038750|PMID:25349174|PMID:25359994|PMID:25543043|PMID:25586472|PMID:25640679|PMID:25739182|PMID:25741868|PMID:25874976|PMID:25962528|PMID:26384563|PMID:26743515|PMID:27091139|PMID:27226025|PMID:27302695|PMID:27315770|PMID:27333819|PMID:27379089|PMID:27799162|PMID:27884935|PMID:27980540|PMID:28098554|PMID:28197791|PMID:28315006|PMID:28356514|PMID:28359783|PMID:28492532|PMID:28579554|PMID:28628107|PMID:28667753|PMID:28977911|PMID:29077208|PMID:29296824|PMID:29330115|PMID:29378236|PMID:29803798|PMID:29868029|PMID:29931222|PMID:30092289|PMID:30443250|PMID:30732127|PMID:30910759|PMID:30940614|PMID:31069200|PMID:31558678|PMID:31596517|PMID:31717342|PMID:31737384|PMID:31770611|PMID:31774495|PMID:31829468|PMID:32047491|PMID:32135276|PMID:32248557|PMID:32531373|PMID:32662942|PMID:32768442|PMID:32888943|PMID:32901917|PMID:32915432|PMID:32944025|PMID:33003453|PMID:33060403|PMID:33365035|PMID:33579790|PMID:33717144|PMID:34060650|PMID:34075200|PMID:34134972|PMID:34137790|PMID:34366294|PMID:34390440|PMID:34390446|PMID:34619682|PMID:34796988|PMID:35101336|PMID:35753512|PMID:36228738|PMID:37081481|PMID:9536098
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3275	thymoma		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3314	angiomyolipoma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:kidney	PMID:15994429|REF_RGD_ID:2298537
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:lung	PMID:15994429|REF_RGD_ID:2298537
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21940958
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:737517	D	RGD:9068941	20220729	RGD		mRNA:increased expression:stomach (human)	PMID:33042401|REF_RGD_ID:153298934
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:22684844|REF_RGD_ID:6892915
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30658076
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549414
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:737517	D	RGD:9068941	20220428	RGD		protein:increased phosphorylation:lung (human)	PMID:22977534|REF_RGD_ID:152023747
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:417	autoimmune disease		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038750
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:4362	cervical cancer		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:snp	PMID:17602083|REF_RGD_ID:2291913
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:kidney	PMID:12131365|REF_RGD_ID:2291917
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5041	esophageal cancer		ISO	RGD:737517	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5082	liver cirrhosis		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:22687286|REF_RGD_ID:6892914
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5434	scrapie		ISO	RGD:69005	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:brain, nucleus	PMID:17897356|REF_RGD_ID:6483034
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:552	pneumonia		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:24395569|REF_RGD_ID:8694302
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:737517	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19796711
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:6000	congestive heart failure		ISO	RGD:737517	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20159255|PMID:20301786|PMID:21288777|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28492532|PMID:29180260|PMID:30443250|PMID:32499645|PMID:33365035|PMID:33717144
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:6262	follicular dendritic cell sarcoma		ISO	RGD:737517	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: EBV-Positive Inflammatory Follicular Dendritic Cell Sarcoma	PMID:24797340|PMID:25586472|PMID:25741868|PMID:28356514|PMID:28492532|PMID:33060403|PMID:34075200
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:630	genetic disease		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20816194|PMID:22030463|PMID:22581330|PMID:23434585|PMID:27803324|PMID:28492532|PMID:30315710|PMID:31170499|PMID:9671298
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:6432	pulmonary hypertension	severity	ISO	RGD:3772	D	RGD:9068941	20240912	RGD		protein:increased phosphorylation:lung	PMID:38602915|REF_RGD_ID:407450417
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		associated with T-cell large granular lymphocyte leukemia	PMID:22591296|REF_RGD_ID:6892936
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:824	periodontitis	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:26825585|REF_RGD_ID:18936995
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438405|PMID:20228799
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs744166 (human)	PMID:22269120|REF_RGD_ID:6483020
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:874	bacterial pneumonia		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:18192501|REF_RGD_ID:6892945
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8778	Crohn's disease		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: : (rs744166) (human)	PMID:22269120|REF_RGD_ID:6483020
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8778	Crohn's disease		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNPs: : (rs744166, rs3816769) (human)	PMID:20109474|REF_RGD_ID:6483027
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8893	psoriasis		ISO	RGD:69005	D	RGD:9068941	20240425	MouseDO			
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8893	psoriasis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8893	psoriasis	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:23594598|REF_RGD_ID:8694295
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8893	psoriasis	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:20811392|REF_RGD_ID:8694306
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:21876460|REF_RGD_ID:8694297
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased expression:nucleus	PMID:17110342|REF_RGD_ID:2291916
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:cervix epithelium	PMID:16005944|REF_RGD_ID:2298536
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549414
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23382965
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:3772	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased phosphorylation:cerebral artery	PMID:24517975|REF_RGD_ID:8694356
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000784	Fibrosis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24448315
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell;protein:increased phosphorylation	PMID:12131365|REF_RGD_ID:2291917
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;protein:decreased activity	PMID:17382154|REF_RGD_ID:2291915
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737517	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937440|PMID:23382965|PMID:26101800
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		associated with Melanoma	PMID:16540670|REF_RGD_ID:8694303
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000972	Fever		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25429137
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:21596098|PMID:22827467|REF_RGD_ID:6483023|REF_RGD_ID:6892706
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:3772	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:brain	PMID:22145815|REF_RGD_ID:8694312
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:17525280|REF_RGD_ID:8694307
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23094067|REF_RGD_ID:10403057
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001472	Nasal Polyps		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22959364|REF_RGD_ID:8694314
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3772	D	RGD:9068941	20220331	RGD			PMID:30346985|REF_RGD_ID:151665755
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436|PMID:28100771
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:21858029|REF_RGD_ID:8694310
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9001866	Pyogenic Granuloma		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:blood vessel	PMID:18700251|REF_RGD_ID:8694308
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22745068|REF_RGD_ID:10403082
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507229
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:24098399|REF_RGD_ID:8694290
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69005	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18317887|REF_RGD_ID:2291908
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14975756|PMID:16427044|PMID:25970160
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15188379|PMID:21937456
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23711144|REF_RGD_ID:10403081
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21909139
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:ovary	PMID:15771796|REF_RGD_ID:2291931
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:17878325|PMID:22066025|REF_RGD_ID:6483041|REF_RGD_ID:6892946
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:16303927|REF_RGD_ID:8694296
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19028472
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25061499
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:uterine cervix	PMID:17311011|REF_RGD_ID:1643476
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9003507	Premature Birth		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10618415|PMID:19299911|PMID:24448315
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21940958
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:17318196|REF_RGD_ID:8694293
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004462	Atrophy		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391472
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:18453544|PMID:19137019|REF_RGD_ID:8694289|REF_RGD_ID:8694294
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:24228589|REF_RGD_ID:10411888
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737517	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26101800
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:737517	D	RGD:9068941	20240704	CTD		CTD Direct Evidence: therapeutic	PMID:38101582
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3772	D	RGD:9068941	20220324	RGD		mRNA:increased expression:mammary gland (rat)	PMID:16316942|REF_RGD_ID:2306898
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:17483332|REF_RGD_ID:2291914
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005372	Inflammation		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20943775|PMID:21937456|PMID:24448315
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3772	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:aorta endothelium	PMID:18230613|REF_RGD_ID:2291921
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:22660795|REF_RGD_ID:8694292
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005647	Experimental Autoimmune Uveitis	treatment	ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:22238646|REF_RGD_ID:8694304
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:17169602|REF_RGD_ID:8694287
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9005873	Tongue Neoplasms	disease_progression	ISO	RGD:737517	D	RGD:9068941	20200609	RGD			PMID:22302289|REF_RGD_ID:8694311
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:3772	D	RGD:9068941	20240912	RGD		protein:increased phosphorylation:lung	PMID:38602915|REF_RGD_ID:407450417
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006285	Epidermal Hyperplasia		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:23870655|REF_RGD_ID:8699499
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006395	Copper-Overload Cirrhosis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006642	Experimental Autoimmune Uveoretinitis		ISO	RGD:69005	D	RGD:9068941	20200609	RGD			PMID:18424728|REF_RGD_ID:8694299
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12957465
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20159255|PMID:20301786|PMID:21288777|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737517	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: therapeutic	PMID:38460807
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007481	Otitis		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737517	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:25970160|PMID:26101800|PMID:34953898
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007661	Dwarfism		ISO	RGD:737517	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:endometrium	PMID:17311011|REF_RGD_ID:1643476
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23796350|REF_RGD_ID:8694332
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9007842	Sepsis-Associated Encephalopathy	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD			PMID:23236988|REF_RGD_ID:10403076
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008	psoriatic arthritis		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs744166 (human)	PMID:23127549|REF_RGD_ID:8694309
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008	psoriatic arthritis	no_association	ISO	RGD:737517	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2293152 (human)	PMID:23127549|REF_RGD_ID:8694309
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008023	Memory Disorders		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17928813
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:737517	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22879914
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:3772	D	RGD:9068941	20200609	RGD		associated with Pancreatitis, Acute	PMID:24161994|REF_RGD_ID:8694328
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008811	Tachypnea		ISO	RGD:737517	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:17676033|PMID:17881745|PMID:17942886|PMID:18591410|PMID:18591412|PMID:18602572|PMID:18706697|PMID:18978467|PMID:20159255|PMID:20301786|PMID:21288777|PMID:22581330|PMID:24452316|PMID:25741868|PMID:26384563|PMID:27302695|PMID:28492532
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14975756
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19796711
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9256	colorectal cancer		ISO	RGD:69005	D	RGD:9068941	20220825	MouseDO		OMIM:114500 | OMIM:608812 | OMIM:611469 | OMIM:612229 | OMIM:612230 | OMIM:612231 | OMIM:612232 | OMIM:612589 | OMIM:612590 | OMIM:612591 | OMIM:612592 | OMIM:615083	
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9261	nasopharynx carcinoma	severity	ISO	RGD:737517	D	RGD:9068941	20210716	RGD		protein:increased expression:mucosa of nasopharynx (human)	PMID:30123088|REF_RGD_ID:149735327
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737517	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:skeletal muscle	PMID:23043161|REF_RGD_ID:8694321
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737517	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25038750
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9970	obesity		ISO	RGD:3772	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:hypothalamus	PMID:23397595|REF_RGD_ID:10411893
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9970	obesity		ISO	RGD:737517	D	RGD:9068941	20240502	RGD		DNA:SNP:rs4796793 (human)	PMID:23900445|REF_RGD_ID:405650675
12127066	STAT3	signal transducer and activator of transcription 3	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:69005	D	RGD:9068941	20220825	MouseDO			
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:0051052	congenital disorder of glycosylation type IIy		ISO	RGD:1323234	D	RGD:7240710	20230125	OMIM			
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:0051052	congenital disorder of glycosylation type IIy		ISO	RGD:1323234	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: CDG IIy | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIy	PMID:25741868|PMID:32395830
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:32395830
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1323234	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:1324	lung cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:1826	epilepsy		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizures	PMID:25741868|PMID:32395830
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:3275	thymoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1323234	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:32395830
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32395830
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127102	GET4	guided entry of tail-anchored proteins factor 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1323234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12127117	KIFC1	kinesin family member C1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127117	KIFC1	kinesin family member C1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127117	KIFC1	kinesin family member C1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349353	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12127117	KIFC1	kinesin family member C1	gene	DOID:0080600	COVID-19		ISO	RGD:1349353	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12127117	KIFC1	kinesin family member C1	gene	DOID:10534	stomach cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127117	KIFC1	kinesin family member C1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127117	KIFC1	kinesin family member C1	gene	DOID:1324	lung cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127117	KIFC1	kinesin family member C1	gene	DOID:3275	thymoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127117	KIFC1	kinesin family member C1	gene	DOID:4362	cervical cancer		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127117	KIFC1	kinesin family member C1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127117	KIFC1	kinesin family member C1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12127117	KIFC1	kinesin family member C1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127117	KIFC1	kinesin family member C1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12127117	KIFC1	kinesin family member C1	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1349353	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26177331
12127117	KIFC1	kinesin family member C1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127117	KIFC1	kinesin family member C1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349353	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127145	NFAM1	NFAT activating protein with ITAM motif 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127145	NFAM1	NFAT activating protein with ITAM motif 1	gene	DOID:1115	sarcoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127145	NFAM1	NFAT activating protein with ITAM motif 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12127145	NFAM1	NFAT activating protein with ITAM motif 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127145	NFAM1	NFAT activating protein with ITAM motif 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127156	C17H2orf81	chromosome 17 C2orf81 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2298834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127189	RPL19	ribosomal protein L19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127189	RPL19	ribosomal protein L19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127189	RPL19	ribosomal protein L19	gene	DOID:1324	lung cancer		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127189	RPL19	ribosomal protein L19	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12127189	RPL19	ribosomal protein L19	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:734460	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:28492532
12127189	RPL19	ribosomal protein L19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127189	RPL19	ribosomal protein L19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		DNA:SNP:promoter:-g.88G>T (rs2071430) (human)	PMID:23438650|REF_RGD_ID:126777681
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:11166	Human papillomavirus infectious disease	exacerbates	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		protein:increased expression:body wart (human)	PMID:28736973|REF_RGD_ID:126777683
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396	D	RGD:9068941	20260108	RGD		DNA:missense mutation, SNP: : V379I (rs469390)	PMID:32740454|REF_RGD_ID:629146885
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:1273	respiratory syncytial virus infectious disease	severity	ISO	RGD:1605396,RGD:1349062	D	RGD:9068941	20260108	RGD		DNA:missense mutation, SNP: : V379I (rs469390)	PMID:32740454|REF_RGD_ID:629146885
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:13636	Fanconi anemia		ISO	RGD:1353561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9389754
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:409	liver disease		ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		associated with human immunodeficiency virus infectious disease, Chronic Hepatitis C:DNA:SNP, missense mutation:intron 3, exon 13:  (rs464397, rs469390) (human)	PMID:28139728|REF_RGD_ID:126777674
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:4492	avian influenza		ISO	RGD:1353561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:178595
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:4492	avian influenza	susceptibility	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		human gene in a mouse model	PMID:28396461|REF_RGD_ID:126777675
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353561	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1353561	D	RGD:9068941	20250918	RGD		mRNA:increased expression:blood	PMID:29399125|REF_RGD_ID:626469561
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1353561	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		human gene in a mouse model	PMID:30945621|PMID:31653718|REF_RGD_ID:126777673|REF_RGD_ID:126777680
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1353561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9004017	Chronic Hepatitis C	exacerbates	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		DNA:SNPs:promoter: (rs2071430, rs17000900) (human)	PMID:29271328|REF_RGD_ID:126777679
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		DNA:SNPs:promoter:g.-123C>A, -88G>T(human)	PMID:25239021|REF_RGD_ID:11067846
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1353561	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9006549	Enterovirus Infections	susceptibility	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		DNA:SNPs:promoter:g.-123C>A, g.-88G>T (rs17000900, rs2071430) (human)	PMID:24085612|REF_RGD_ID:126777678
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9006844	Streptococcal Infections		ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		associated with pharyngitis;protein:increased expression:blood (human)	PMID:28077283|REF_RGD_ID:126777682
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1353561	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		protein:increased expression:blood (human)	PMID:25542463|REF_RGD_ID:126777677
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353561	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127199	MX1	MX dynamin like GTPase 1	gene	DOID:986	alopecia areata	onset	ISO	RGD:1353561	D	RGD:9068941	20210409	RGD		DNA:SNP:intron 6:g.9959C>T (human)	PMID:10942113|REF_RGD_ID:126777672
12127223	TMEM209	transmembrane protein 209	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127223	TMEM209	transmembrane protein 209	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127223	TMEM209	transmembrane protein 209	gene	DOID:1324	lung cancer		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127223	TMEM209	transmembrane protein 209	gene	DOID:1909	melanoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127223	TMEM209	transmembrane protein 209	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127223	TMEM209	transmembrane protein 209	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127223	TMEM209	transmembrane protein 209	gene	DOID:5041	esophageal cancer		ISO	RGD:1605919	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127223	TMEM209	transmembrane protein 209	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127223	TMEM209	transmembrane protein 209	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127223	TMEM209	transmembrane protein 209	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12127223	TMEM209	transmembrane protein 209	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127223	TMEM209	transmembrane protein 209	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605919	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:68531	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:35687267
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:0111703	familial hypertryptophanemia		ISO	RGD:68531	D	RGD:7240710	20200311	OMIM			
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:0111703	familial hypertryptophanemia		ISO	RGD:68531	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial hypertryptophanemia	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:68531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:68532	D	RGD:9068941	20200609	RGD			PMID:27190010|REF_RGD_ID:13601984
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:68531	D	RGD:9068941	20200609	RGD			PMID:8873217|REF_RGD_ID:1358595
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:1115	sarcoma		ISO	RGD:68531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:12849	autistic disorder		ISO	RGD:68531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14755447
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:5041	esophageal cancer		ISO	RGD:68531	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:68370	D	RGD:9068941	20250206	RGD			PMID:11022015|REF_RGD_ID:597621660
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:68531	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9005587	Starvation		ISO	RGD:68531	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7306070
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9005930	Endotoxemia	severity	ISO	RGD:68532	D	RGD:9068941	20201022	RGD			PMID:24930766|REF_RGD_ID:39939032
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68531	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127248	TDO2	tryptophan 2,3-dioxygenase	gene	DOID:9351	diabetes mellitus		ISO	RGD:68370	D	RGD:9068941	20251218	RGD		protein:increased expression:liver	PMID:3899109|REF_RGD_ID:2291804
12127264	VCF1	VCP nuclear cofactor family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127264	VCF1	VCP nuclear cofactor family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127264	VCF1	VCP nuclear cofactor family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127264	VCF1	VCP nuclear cofactor family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127275	ART1	ADP-ribosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127275	ART1	ADP-ribosyltransferase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12127289	PKP4	plakophilin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127289	PKP4	plakophilin 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317269	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12127289	PKP4	plakophilin 4	gene	DOID:0060058	lymphoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12127289	PKP4	plakophilin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127289	PKP4	plakophilin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127289	PKP4	plakophilin 4	gene	DOID:1115	sarcoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127289	PKP4	plakophilin 4	gene	DOID:1324	lung cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127289	PKP4	plakophilin 4	gene	DOID:1909	melanoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127289	PKP4	plakophilin 4	gene	DOID:3070	high grade glioma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127289	PKP4	plakophilin 4	gene	DOID:3275	thymoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127289	PKP4	plakophilin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127289	PKP4	plakophilin 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127289	PKP4	plakophilin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127289	PKP4	plakophilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127289	PKP4	plakophilin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127289	PKP4	plakophilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:10283	prostate cancer		ISO	RGD:1316768	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:10283	prostate cancer		ISO	RGD:1316768	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:1115	sarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:11830	myopia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:1247	blood coagulation disease		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:12849	autistic disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:1324	lung cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:2661	myoepithelioma		ISO	RGD:1316768	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:3275	thymoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:4362	cervical cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1316768	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial diseases	PMID:30201738
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9008421	Epistaxis		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	
12127367	OXA1L	OXA1L mitochondrial inner membrane protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1316768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12127430	PODXL	podocalyxin like	gene	DOID:0060368	Parkinson's disease 2		ISO	RGD:736843	D	RGD:8554872	20260414	ClinVar		ClinVar Annotator: match by term: Autosomal recessive juvenile Parkinson disease 2	PMID:26864383
12127430	PODXL	podocalyxin like	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:736843	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:26864383|PMID:28492532
12127430	PODXL	podocalyxin like	gene	DOID:0060894	early-onset Parkinson's disease		ISO	RGD:736843	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: young-onset Parkinson disease	PMID:25741868
12127430	PODXL	podocalyxin like	gene	DOID:0060903	thrombosis		ISO	RGD:736843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22016802
12127430	PODXL	podocalyxin like	gene	DOID:1184	nephrotic syndrome		ISO	RGD:736843	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:29244787|PMID:30523047
12127430	PODXL	podocalyxin like	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:736843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
12127430	PODXL	podocalyxin like	gene	DOID:2394	ovarian cancer		ISO	RGD:736843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12127430	PODXL	podocalyxin like	gene	DOID:3407	carotid artery disease		ISO	RGD:736843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22016802
12127430	PODXL	podocalyxin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127430	PODXL	podocalyxin like	gene	DOID:630	genetic disease		ISO	RGD:736843	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12127430	PODXL	podocalyxin like	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16434482
12127430	PODXL	podocalyxin like	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:621878	D	RGD:9068941	20260730	RGD		protein:altered localization:glomerulus	PMID:19684413|REF_RGD_ID:736802374
12127430	PODXL	podocalyxin like	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:621878	D	RGD:9068941	20260730	RGD		protein:decreased sialylation:glomerulus	PMID:3976840|REF_RGD_ID:736802375
12127430	PODXL	podocalyxin like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127430	PODXL	podocalyxin like	gene	DOID:9008217	Hemorrhage		ISO	RGD:736843	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22016802
12127430	PODXL	podocalyxin like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:0080600	COVID-19		ISO	RGD:2293812	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:1115	sarcoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:4362	cervical cancer		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:2293812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9002189	High Myopia		ISO	RGD:2293812	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127440	FHIP1A	FHF complex subunit HOOK interacting protein 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1316463	D	RGD:9068941	20220825	MouseDO			
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:0111155	autosomal recessive spinocerebellar ataxia 21		ISO	RGD:1316462	D	RGD:7240710	20180418	OMIM			
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:0111155	autosomal recessive spinocerebellar ataxia 21		ISO	RGD:1316462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome | ClinVar Annotator: match by term: CALFAN syndrome | ClinVar Annotator: match by term: SCYL1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21	PMID:23175812|PMID:25741868|PMID:26581903|PMID:28492532|PMID:29419818|PMID:30258122|PMID:32146038
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316462	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:1909	melanoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:630	genetic disease		ISO	RGD:1316462	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:767	muscular atrophy		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1316462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:29419818
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9004866	Ataxia		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127467	SCYL1	SCY1 like pseudokinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12127488	RTTN	rotatin	gene	DOID:0050453	lissencephaly		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:28492532|PMID:29883675
12127488	RTTN	rotatin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127488	RTTN	rotatin	gene	DOID:0070297	primary microcephaly		ISO	RGD:1315475	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:26608784
12127488	RTTN	rotatin	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532
12127488	RTTN	rotatin	gene	DOID:10534	stomach cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12127488	RTTN	rotatin	gene	DOID:1059	intellectual disability		ISO	RGD:1315475	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868
12127488	RTTN	rotatin	gene	DOID:1059	intellectual disability		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12127488	RTTN	rotatin	gene	DOID:10907	microcephaly		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22939636|PMID:25741868|PMID:28492532|PMID:29883675
12127488	RTTN	rotatin	gene	DOID:1115	sarcoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127488	RTTN	rotatin	gene	DOID:12449	aplastic anemia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:22939636|PMID:25741868
12127488	RTTN	rotatin	gene	DOID:12849	autistic disorder		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12127488	RTTN	rotatin	gene	DOID:1324	lung cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127488	RTTN	rotatin	gene	DOID:1826	epilepsy		ISO	RGD:1315475	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
12127488	RTTN	rotatin	gene	DOID:1826	epilepsy		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12127488	RTTN	rotatin	gene	DOID:1909	melanoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127488	RTTN	rotatin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127488	RTTN	rotatin	gene	DOID:3275	thymoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127488	RTTN	rotatin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12127488	RTTN	rotatin	gene	DOID:4362	cervical cancer		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127488	RTTN	rotatin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127488	RTTN	rotatin	gene	DOID:5041	esophageal cancer		ISO	RGD:1315475	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12127488	RTTN	rotatin	gene	DOID:543	dystonia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28492532
12127488	RTTN	rotatin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127488	RTTN	rotatin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127488	RTTN	rotatin	gene	DOID:630	genetic disease		ISO	RGD:1315475	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22939636|PMID:25741868|PMID:28492532|PMID:38178912
12127488	RTTN	rotatin	gene	DOID:9003865	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures		ISO	RGD:1315475	D	RGD:7240710	20180130	OMIM			
12127488	RTTN	rotatin	gene	DOID:9003865	Microcephaly, Short Stature, and Polymicrogyria with or without Seizures		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with or without seizures | ClinVar Annotator: match by term: Microcephaly, short stature, and polymicrogyria with seizures | ClinVar Annotator: match by term: RTTN-related condition	PMID:16199547|PMID:17576681|PMID:22939636|PMID:25741868|PMID:26608784|PMID:26846091|PMID:28492532|PMID:29883675|PMID:9536098
12127488	RTTN	rotatin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315475	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12127488	RTTN	rotatin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12127488	RTTN	rotatin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
12127488	RTTN	rotatin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12127488	RTTN	rotatin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127548	FBXO17	F-box protein 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318004	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127548	FBXO17	F-box protein 17	gene	DOID:1909	melanoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127548	FBXO17	F-box protein 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127548	FBXO17	F-box protein 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127548	FBXO17	F-box protein 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1315504	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal dominant non-syndromic intellectual disability	
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28166811|PMID:28492532|PMID:29358611|PMID:9536098
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5 | ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic 5	PMID:24088041|PMID:26633545|PMID:28492532
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1315504	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:4428	dyslexia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1315504	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:25741868
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:25741868|PMID:26467025|PMID:28492532
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5 | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:9536098
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:21276947|PMID:23711981|PMID:24088041|PMID:25326635|PMID:25741868|PMID:26467025|PMID:26633545|PMID:26942291|PMID:26942292|PMID:28492532|PMID:29358611|PMID:31069529|PMID:9536098
12127558	PRICKLE2	prickle planar cell polarity protein 2	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1315504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 5	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31069529|PMID:32970752|PMID:9536098
12127584	PLPPR3	phospholipid phosphatase related 3	gene	DOID:1115	sarcoma		ISO	RGD:1602461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127584	PLPPR3	phospholipid phosphatase related 3	gene	DOID:1324	lung cancer		ISO	RGD:1602461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127584	PLPPR3	phospholipid phosphatase related 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127600	NEK10	NIMA related kinase 10	gene	DOID:0111851	primary ciliary dyskinesia 44		ISO	RGD:1350326	D	RGD:7240710	20200318	OMIM			
12127600	NEK10	NIMA related kinase 10	gene	DOID:0111851	primary ciliary dyskinesia 44		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 44 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44	PMID:25741868
12127600	NEK10	NIMA related kinase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12127600	NEK10	NIMA related kinase 10	gene	DOID:1115	sarcoma		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127600	NEK10	NIMA related kinase 10	gene	DOID:1324	lung cancer		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127600	NEK10	NIMA related kinase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127600	NEK10	NIMA related kinase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127600	NEK10	NIMA related kinase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127600	NEK10	NIMA related kinase 10	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1350326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:25741868
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606923	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127651	GXYLT1	glucoside xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract	PMID:25741868
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:35176428
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0080865	primary ovarian insufficiency 8		ISO	RGD:737601	D	RGD:7240710	20180130	OMIM			
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0080865	primary ovarian insufficiency 8		ISO	RGD:737601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 8 | ClinVar Annotator: match by term: PRIMARY OVARIAN FAILURE 8 | ClinVar Annotator: match by term: Premature ovarian failure 8 | ClinVar Annotator: match by term: STAG3-related condition	PMID:25741868
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0112350	spermatogenic failure 61		ISO	RGD:737601	D	RGD:7240710	20211222	OMIM			
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:0112350	spermatogenic failure 61		ISO	RGD:737601	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 61 | ClinVar Annotator: match by term: Spermatogenic failure 61	PMID:25741868
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:10534	stomach cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:1115	sarcoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:1324	lung cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:1909	melanoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:1924	hypogonadism		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:3070	high grade glioma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:4362	cervical cancer		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:6039	uveal melanoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:630	genetic disease		ISO	RGD:737601	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737601	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127673	STAG3	STAG3 cohesin complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127713	GBP1	guanylate binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127713	GBP1	guanylate binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127713	GBP1	guanylate binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127713	GBP1	guanylate binding protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127713	GBP1	guanylate binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12127713	GBP1	guanylate binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323562	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127713	GBP1	guanylate binding protein 1	gene	DOID:9001488	Human Influenza		ISO	RGD:1323562	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12127713	GBP1	guanylate binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127713	GBP1	guanylate binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:10534	stomach cancer		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:1115	sarcoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:1909	melanoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:4362	cervical cancer		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1346299	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127729	PRRC2B	proline rich coiled-coil 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127768	FUT10	fucosyltransferase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127768	FUT10	fucosyltransferase 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127768	FUT10	fucosyltransferase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1354084	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127768	FUT10	fucosyltransferase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127768	FUT10	fucosyltransferase 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127768	FUT10	fucosyltransferase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:10534	stomach cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:1115	sarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:3275	thymoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:4362	cervical cancer		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:5041	esophageal cancer		ISO	RGD:1602811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127791	CFAP100	cilia and flagella associated protein 100	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127814	UPK3A	uroplakin 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1321651	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127814	UPK3A	uroplakin 3A	gene	DOID:1115	sarcoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127814	UPK3A	uroplakin 3A	gene	DOID:14766	renal agenesis		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RENAL APLASIA	PMID:25741868|PMID:28492532
12127814	UPK3A	uroplakin 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127814	UPK3A	uroplakin 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127814	UPK3A	uroplakin 3A	gene	DOID:9003763	Renal Hypodysplasia/Aplasia 1		ISO	RGD:1321651	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 1	PMID:25741868|PMID:27657687|PMID:28492532
12127814	UPK3A	uroplakin 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127814	UPK3A	uroplakin 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321651	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127814	UPK3A	uroplakin 3A	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1321652	D	RGD:9068941	20220825	MouseDO		OMIM:193000 | OMIM:314550 | OMIM:610878 | OMIM:613674 | OMIM:614317 | OMIM:614318 | OMIM:614319 | OMIM:614674 | OMIM:615390 | OMIM:615963	
12127823	XG	Xg glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127823	XG	Xg glycoprotein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127823	XG	Xg glycoprotein	gene	DOID:1115	sarcoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127823	XG	Xg glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127823	XG	Xg glycoprotein	gene	DOID:2394	ovarian cancer		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12127823	XG	Xg glycoprotein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127823	XG	Xg glycoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127823	XG	Xg glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127823	XG	Xg glycoprotein	gene	DOID:6039	uveal melanoma		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12127823	XG	Xg glycoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127823	XG	Xg glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127823	XG	Xg glycoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050581	brachydactyly		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:28492532|PMID:37091313
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0070445	early-onset dystonia and/or spastic paraplegia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonia, early-onset, and/or spastic paraplegia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080202	adenoid cystic carcinoma	disease_progression	ISO	RGD:1347083	D	RGD:9068941	20211224	RGD			PMID:31483290|REF_RGD_ID:150429736
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080471	developmental and epileptic encephalopathy 92		ISO	RGD:1347083	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080598	Kleefstra syndrome 2		ISO	RGD:1347083	D	RGD:7240710	20190315	OMIM			
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080598	Kleefstra syndrome 2		ISO	RGD:1347083	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 2 | ClinVar Annotator: match by term: KMT2C-related NDD | ClinVar Annotator: match by term: KMT2C-related condition | ClinVar Annotator: match by term: Kleefstra syndrome 2	PMID:16199547|PMID:22726846|PMID:22832583|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29069077|PMID:29276005|PMID:29758562|PMID:29926297|PMID:30352910|PMID:30981987|PMID:33619735|PMID:35101336|PMID:36672956|PMID:37091313|PMID:39013459
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:21163964|PMID:22820256|PMID:22980975|PMID:27993330|PMID:28726821
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080707	medulloblastoma non-WNT/non-SHH group 3		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 3	PMID:21163964|PMID:22820256|PMID:27993330|PMID:28726821
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080708	medulloblastoma non-WNT/non-SHH group 4		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH group 4	PMID:21163964|PMID:22820256|PMID:27993330|PMID:28726821
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:0080889	posterior fossa ependymoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Posterior fossa ependymoma	PMID:27993330|PMID:33639927
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:10283	prostate cancer		ISO	RGD:1347083	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:10534	stomach cancer		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1059	intellectual disability		ISO	RGD:1347083	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:22726846|PMID:25741868|PMID:39013459
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:10907	microcephaly		ISO	RGD:1347083	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:39013459
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:10907	microcephaly		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1115	sarcoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:11193	syndactyly		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1240	leukemia		ISO	RGD:1347083	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:27993330
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:12849	autistic disorder		ISO	RGD:1347083	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22726846|PMID:25741868|PMID:28492532|PMID:39013459
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1324	lung cancer		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21853109|PMID:35101336
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1749	squamous cell carcinoma	severity	ISO	RGD:1347083	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:25303977|REF_RGD_ID:9588232
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1826	epilepsy		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1827	generalized epilepsy		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:1909	melanoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:2600	laryngeal carcinoma		ISO	RGD:1347083	D	RGD:9068941	20220217	RGD		mRNA:decreased expression:larynx	PMID:25633166|REF_RGD_ID:151356763
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:299	adenocarcinoma		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3070	high grade glioma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3081	cystic lymphangioma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic hygroma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3275	thymoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3459	breast carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:22726846|PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3565	meningioma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:27993330|PMID:28177878|PMID:31963394|PMID:35440040|PMID:36167400
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1347083	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple (human)	PMID:25151357|REF_RGD_ID:9588233
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1347083	D	RGD:9068941	20220217	RGD			PMID:33665490|REF_RGD_ID:150523771
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1347083	D	RGD:9068941	20220217	RGD			PMID:32867667|REF_RGD_ID:151356760
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:3910	lung adenocarcinoma	onset	ISO	RGD:1347083	D	RGD:9068941	20220217	RGD			PMID:30821106|REF_RGD_ID:151356761
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:4362	cervical cancer		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:4927	Klatskin's tumor	onset	ISO	RGD:1347083	D	RGD:9068941	20210430	RGD		DNA:mutations	PMID:33387086|REF_RGD_ID:126848756
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:5041	esophageal cancer		ISO	RGD:1347083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:540	strabismus		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:5517	stomach carcinoma	severity	ISO	RGD:1347083	D	RGD:9068941	20200609	RGD		protein:decreased expression:stomach (human)	PMID:25222251|REF_RGD_ID:9588234
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:630	genetic disease		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34850017|PMID:37091313
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:674	cleft palate		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1587205	D	RGD:9068941	20220217	RGD			PMID:33914205|REF_RGD_ID:151356764
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:8541	Sezary's disease		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:8927	learning disability		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22484628
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9001031	Retrognathia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9001510	Funnel Chest		ISO	RGD:1347083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9003133	Hypertelorism		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:1347083	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347083	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9007661	Dwarfism		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22726846|PMID:22832583|PMID:25741868|PMID:29926297|PMID:30352910|PMID:30981987
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008268	Enuresis		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:37091313
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008682	Velopharyngeal Insufficiency		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Velopharyngeal insufficiency	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1347083	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347083	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1347083	D	RGD:9068941	20220217	RGD			PMID:31646828|REF_RGD_ID:151356762
12127841	KMT2C	lysine methyltransferase 2C	gene	DOID:9538	multiple myeloma		ISO	RGD:1347083	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12127908	ZNF346	zinc finger protein 346	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127908	ZNF346	zinc finger protein 346	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12127908	ZNF346	zinc finger protein 346	gene	DOID:1909	melanoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12127908	ZNF346	zinc finger protein 346	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12127908	ZNF346	zinc finger protein 346	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12127908	ZNF346	zinc finger protein 346	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:732571	D	RGD:9068941	20220825	MouseDO		OMIM:158320	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:10283	prostate cancer		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:increased risk in carriers of minor allele of SNP rs760317	PMID:15705877|REF_RGD_ID:2289878
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:10283	prostate cancer		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:reduced risk in carriers of minor allele of SNP rs760317	PMID:17548701|REF_RGD_ID:2289869
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:10283	prostate cancer		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:methylation percentage 15% in tumors vs no methylation in nonmalignant prostate	PMID:11839671|REF_RGD_ID:2289896
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1344220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter:hypermethylation found in 16/98 (16%) of tumors, associated with poor survival	PMID:11751381|REF_RGD_ID:2289897
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		associated with Schistosomiasis;DNA:hypermethylation:urinary bladder	PMID:15154012|REF_RGD_ID:2301233
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732571	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:15591090|REF_RGD_ID:2301232
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:11372	megacolon		ISO	RGD:1344220	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:12849	autistic disorder		ISO	RGD:1344220	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:13938	amenorrhea		ISO	RGD:1344220	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors	PMID:17467893|REF_RGD_ID:2289871
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:1344220	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: familial ovarian cancer	PMID:25741868
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter, ovary	PMID:15574200|REF_RGD_ID:2298508
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity,hypermethylation:breast:LOH in 8/40 tumors (20%), hypermethylation in 22/46 tumors (48%), significant positive association found (p=0.04)	PMID:12231533|REF_RGD_ID:2289894
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:303	substance-related disorder		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:305	carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16061637
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11788890
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1344220	D	RGD:9068941	20200609	RGD			PMID:9850082|REF_RGD_ID:13792770
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:intron:	PMID:9635574|REF_RGD_ID:13792815
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:4440	seminoma		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression::no expression observed in less mature seminomatous neoplastic tissues; re-expression seen in mature teratomatous tissues	PMID:12379753|REF_RGD_ID:2289879
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		DNA:translocation::t(3;8)(p14;q24.1) results in disruption of FHIT and TRC8/RNF139 genes	PMID:17539022|REF_RGD_ID:2289870
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression::reduced or negative expression in 78% of clear cell RCCs	PMID:10530564|REF_RGD_ID:2289903
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344220	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:5419	schizophrenia		ISO	RGD:1344220	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344220	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:28580594
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344220	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:670	amphetamine abuse		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12958204
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression:testis	PMID:14670177|REF_RGD_ID:2301235
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:732571	D	RGD:9068941	20230504	RGD			PMID:30107138|REF_RGD_ID:329349307
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17548701
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		mRNA,DNA:alternative form,loss of heterozygosity::abnormal transcript in 2/54 cases (4%), LOH in 8/54 cases (15%)	PMID:9569038|REF_RGD_ID:2289905
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		associated with smoking; DNA:decreased expression,deletions,gene instability::frequency of genomic alterations significantly higher for smokers than nonsmokers (P<0.02)	PMID:16115913|REF_RGD_ID:2289874
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		cervical squamous cell carcinoma; DNA:hypermethylation,loss of heterozygosity:promoter,locus:hypermethylation in 24%, LOH in 10% of tumors	PMID:17467893|REF_RGD_ID:2289871
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9003373	Uterine Cervical Neoplasms	no_association	ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		mRNA:alternative form::all tumors examined had full-length transcripts despite LOH at 3p14 in 39%, frequency of minor transcripts the same in tumors and normal tissues	PMID:9462708|REF_RGD_ID:2289906
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14569398|PMID:18038314
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9004643	Urologic Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23618899
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10959838|PMID:16061637
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9005804	Vulvar Neoplasms	disease_progression	ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression:vulva, squamous epithelial cell	PMID:16608079|REF_RGD_ID:2301231
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12112319
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium:loss of expression in 41/111 (37%) of tumors, significantly associated with poor survival and/or poor prognostic indicators	PMID:10873085|REF_RGD_ID:2289899
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		lobular breast cancer; DNA:loss of heterozygosity::LOH within the FHIT gene in 16% of cases, significant association between LOH and reduced or negative expression	PMID:10930803|REF_RGD_ID:2289898
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:1344220	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast:frequency increases from 0% in nonproliferative benign breast disease to 41% in invasive carcinoma	PMID:17164758|REF_RGD_ID:2289872
12127929	FHIT	fragile histidine triad diadenosine triphosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344220	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12128020	MIR23A	microRNA mir-23a	gene	DOID:0060319	cardiac arrest		ISO	RGD:2325395	D	RGD:9068941	20230202	RGD		RNA:decreased expression:hippocampus, cortex;	PMID:30824348|REF_RGD_ID:155882547
12128020	MIR23A	microRNA mir-23a	gene	DOID:12849	autistic disorder		ISO	RGD:1351663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20374639
12128020	MIR23A	microRNA mir-23a	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1351663	D	RGD:9068941	20230202	RGD		miRNA:increased expression:blood serum (human)	PMID:24970617|REF_RGD_ID:155882576
12128020	MIR23A	microRNA mir-23a	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1351663	D	RGD:9068941	20230202	RGD		RNA:increased expression:serum	PMID:25815108|REF_RGD_ID:155882560
12128020	MIR23A	microRNA mir-23a	gene	DOID:3021	acute kidney failure		ISO	RGD:1351663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12128020	MIR23A	microRNA mir-23a	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1351663	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
12128020	MIR23A	microRNA mir-23a	gene	DOID:4448	macular degeneration		ISO	RGD:1351663	D	RGD:9068941	20200609	RGD		RNA:decreased expression:retinal pigment epithelial cell:	PMID:21693609|REF_RGD_ID:10053591
12128020	MIR23A	microRNA mir-23a	gene	DOID:6000	congestive heart failure		ISO	RGD:1351663	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12128020	MIR23A	microRNA mir-23a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351663	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver	PMID:22318941|REF_RGD_ID:14694846
12128020	MIR23A	microRNA mir-23a	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1351663	D	RGD:9068941	20230202	RGD		RNA:increased expression:serum	PMID:29771433|REF_RGD_ID:155882557
12128020	MIR23A	microRNA mir-23a	gene	DOID:9002676	Cerebral Hemorrhage	ameliorates	ISO	RGD:2325395	D	RGD:9068941	20230128	RGD			PMID:33403590|REF_RGD_ID:155882539
12128020	MIR23A	microRNA mir-23a	gene	DOID:9003049	Femur Head Necrosis	ameliorates	ISO	RGD:2325395	D	RGD:9068941	20230202	RGD			PMID:29039554|REF_RGD_ID:155882564
12128020	MIR23A	microRNA mir-23a	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1607670	D	RGD:9068941	20230202	RGD			PMID:22084234|REF_RGD_ID:155882559
12128020	MIR23A	microRNA mir-23a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351663	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12128020	MIR23A	microRNA mir-23a	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351663	D	RGD:9068941	20220825	RGD		RNA:increased expression:colorectum, blood (human)	PMID:23758639|REF_RGD_ID:153344558
12128020	MIR23A	microRNA mir-23a	gene	DOID:9970	obesity		ISO	RGD:1351663	D	RGD:9068941	20230202	RGD		associated with hepatocellular carcinoma;RNA:increased expression:exosome, liver:	PMID:31321740|REF_RGD_ID:155882550
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:2302259	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:1909	melanoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128118	MATCAP1	microtubule associated tyrosine carboxypeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2302259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128155	EFR3A	EFR3 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128155	EFR3A	EFR3 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128155	EFR3A	EFR3 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:3275	thymoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128155	EFR3A	EFR3 homolog A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12128155	EFR3A	EFR3 homolog A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604382	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128155	EFR3A	EFR3 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:9003566	Mesothelioma		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12128155	EFR3A	EFR3 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128155	EFR3A	EFR3 homolog A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128155	EFR3A	EFR3 homolog A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128155	EFR3A	EFR3 homolog A	gene	DOID:9256	colorectal cancer		ISO	RGD:1604382	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12128191	LHX3	LIM homeobox 3	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1352685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	
12128191	LHX3	LIM homeobox 3	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1352685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12128191	LHX3	LIM homeobox 3	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1352685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	PMID:28492532
12128191	LHX3	LIM homeobox 3	gene	DOID:0061021	combined pituitary hormone deficiency 3		ISO	RGD:1352685	D	RGD:7240710	20180130	OMIM			
12128191	LHX3	LIM homeobox 3	gene	DOID:0061021	combined pituitary hormone deficiency 3		ISO	RGD:1352685	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LHX3-related condition | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 | ClinVar Annotator: match by term: Winkelman Bethge Pfeiffer syndrome	PMID:16199547|PMID:16394081|PMID:16940453|PMID:17327381|PMID:18407919|PMID:20389107|PMID:21249393|PMID:25741868|PMID:28492532|PMID:30266296|PMID:33729509
12128191	LHX3	LIM homeobox 3	gene	DOID:13938	amenorrhea		ISO	RGD:1352685	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:32870266
12128191	LHX3	LIM homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128191	LHX3	LIM homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:1352685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12128191	LHX3	LIM homeobox 3	gene	DOID:9406	hypopituitarism		ISO	RGD:736998	D	RGD:9068941	20220825	MouseDO		OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986	
12128191	LHX3	LIM homeobox 3	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1352685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined pituitary hormone deficiency | ClinVar Annotator: match by term: Panhypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency, combined	PMID:16199547|PMID:16394081|PMID:18407919|PMID:25741868|PMID:28492532
12128201	GP9	glycoprotein IX platelet	gene	DOID:1247	blood coagulation disease		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:11167791|PMID:21173099|PMID:21699652|PMID:23402648|PMID:25741868|PMID:28492532|PMID:32581362
12128201	GP9	glycoprotein IX platelet	gene	DOID:1588	thrombocytopenia		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: thrombocytopenia	
12128201	GP9	glycoprotein IX platelet	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:34355501
12128201	GP9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:7240710	20180130	OMIM			
12128201	GP9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 1 | ClinVar Annotator: match by term: Bernard Soulier syndrome | ClinVar Annotator: match by term: Bernard-Soulier syndrome | ClinVar Annotator: match by term: GP9-related condition | ClinVar Annotator: match by term: Platelet Glycoprotein 1b, Deficiency of	PMID:15351858|PMID:21173099|PMID:21699652|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:34355501|PMID:35349645|PMID:8772211|PMID:9163595|PMID:9432024
12128201	GP9	glycoprotein IX platelet	gene	DOID:2217	Bernard-Soulier syndrome	severity	ISO	RGD:1351167	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.182A>G(p.N61S)(human)	PMID:28131619|REF_RGD_ID:13464128
12128201	GP9	glycoprotein IX platelet	gene	DOID:630	genetic disease		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12128201	GP9	glycoprotein IX platelet	gene	DOID:9001316	Bernard-Soulier Syndrome, Type C		ISO	RGD:1351167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BERNARD-SOULIER SYNDROME, TYPE C | ClinVar Annotator: match by term: Bernard-Soulier syndrome type C	PMID:12100158|PMID:21173099|PMID:21699652|PMID:25539746|PMID:25741868|PMID:28395735|PMID:28492532|PMID:29636940|PMID:31064749|PMID:34355501|PMID:9163595|PMID:9432024
12128201	GP9	glycoprotein IX platelet	gene	DOID:9005876	Thrombocytopenic Purpura		ISO	RGD:1351167	D	RGD:9068941	20200609	RGD			PMID:23103637|REF_RGD_ID:11040532
12128201	GP9	glycoprotein IX platelet	gene	DOID:9008217	Hemorrhage		ISO	RGD:1351167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25539746
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:1115	sarcoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:1909	melanoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:2394	ovarian cancer		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1605895	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128207	DNER	delta/notch like EGF repeat containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128248	CLDN3	claudin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:68632	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12128248	CLDN3	claudin 3	gene	DOID:13976	peptic esophagitis		ISO	RGD:68425	D	RGD:9068941	20200609	RGD		protein:altered expression:epithelial cell, esophagus:	PMID:21373849|REF_RGD_ID:11344880
12128248	CLDN3	claudin 3	gene	DOID:4481	allergic rhinitis		ISO	RGD:68632	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:33441633
12128248	CLDN3	claudin 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:68632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12128248	CLDN3	claudin 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12128248	CLDN3	claudin 3	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:68425	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon:	PMID:19929946|REF_RGD_ID:2325127
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:1909	melanoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:2377	multiple sclerosis		ISO	RGD:1317214	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:3070	high grade glioma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:4362	cervical cancer		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317214	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128253	RNF19A	ring finger protein 19A, RBR E3 ubiquitin protein ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: lissencephaly	PMID:30471716
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0112228	lissencephaly 9 with complex brainstem malformation		ISO	RGD:1352225	D	RGD:7240710	20190315	OMIM			
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:0112228	lissencephaly 9 with complex brainstem malformation		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION | ClinVar Annotator: match by term: Lissencephaly 9 with complex brainstem malformation | ClinVar Annotator: match by term: Lissencephaly with decussation defect | ClinVar Annotator: match by term: MACF1-related condition | ClinVar Annotator: match by term: Spectraplakinopathy type I | ClinVar Annotator: match by term: lissencephaly with brainstem hypoplasia	PMID:24507697|PMID:25741868|PMID:28492532|PMID:29706646|PMID:30471716
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:10283	prostate cancer		ISO	RGD:1352225	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:11830	myopia		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:1909	melanoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:3275	thymoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:630	genetic disease		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9003591	Telecanthus		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1352225	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:31474318
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:40925378|PMID:41629993
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352225	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128267	MACF1	microtubule actin crosslinking factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:1324	lung cancer		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322541	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128417	TM7SF2	transmembrane 7 superfamily member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:12336	male infertility		ISO	RGD:1602491	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Male infertility	
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer		ISO	RGD:1602491	D	RGD:9068941	20220303	RGD		DNA:hypermethylation:lung:	PMID:25435374|REF_RGD_ID:151660338
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:25435374|REF_RGD_ID:151660338
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:1909	melanoma		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:26330328|REF_RGD_ID:11535423
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:32443323|REF_RGD_ID:151660331
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:26330328|REF_RGD_ID:11535423
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:30312695|REF_RGD_ID:151660341
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1602491	D	RGD:9068941	20220303	RGD			PMID:30312695|REF_RGD_ID:151660341
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1602491	D	RGD:9068941	20220303	RGD		associated with lung non-small cell carcinoma;mRNA, protein:decreased expression: :	PMID:29739711|REF_RGD_ID:151660333
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602491	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25435374
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1313914	D	RGD:9068941	20220303	RGD			PMID:29739711|REF_RGD_ID:151660333
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602491	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128453	SOX30	SRY-box transcription factor 30	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1313914	D	RGD:9068941	20220303	RGD			PMID:29739711|REF_RGD_ID:151660333
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0050562	West syndrome		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080430	developmental and epileptic encephalopathy 65		ISO	RGD:1312845	D	RGD:7240710	20190315	OMIM			
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:0080430	developmental and epileptic encephalopathy 65		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYFIP2-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 65	PMID:21107423|PMID:25741868|PMID:25741869|PMID:25741870|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Severe intellectual disability	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1312845	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312845	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:535	sleep disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:543	dystonia		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:585	nephrolithiasis		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:630	genetic disease		ISO	RGD:1312845	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277|PMID:33710394
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9001581	Constipation		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21107423|PMID:25741868|PMID:26582918|PMID:28492532|PMID:29534297|PMID:2953497|PMID:29667327|PMID:30664714|PMID:33149277
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128468	CYFIP2	cytoplasmic FMR1 interacting protein 2	gene	DOID:93	language disorder		ISO	RGD:1312845	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868
12128504	CDH2	cadherin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:731820	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: arrhythmogenic right ventricular cardiomyopathy	PMID:25741868|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:731821	D	RGD:9068941	20200609	RGD			PMID:7502046|REF_RGD_ID:734737
12128504	CDH2	cadherin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:731820	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
12128504	CDH2	cadherin 2	gene	DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome		ISO	RGD:731820	D	RGD:7240710	20200910	OMIM			
12128504	CDH2	cadherin 2	gene	DOID:0080948	agenesis of corpus callosum, cardiac, ocular, and genital syndrome		ISO	RGD:731820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME | ClinVar Annotator: match by term: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:30796522|PMID:31585109|PMID:31650526
12128504	CDH2	cadherin 2	gene	DOID:0080959	arrhythmogenic right ventricular dysplasia 14		ISO	RGD:731820	D	RGD:7240710	20200701	OMIM			
12128504	CDH2	cadherin 2	gene	DOID:0080959	arrhythmogenic right ventricular dysplasia 14		ISO	RGD:731820	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 14	PMID:25741868|PMID:28280076|PMID:28326674|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:1059	intellectual disability		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:31585109
12128504	CDH2	cadherin 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731821	D	RGD:9068941	20230302	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312	
12128504	CDH2	cadherin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731820	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12128504	CDH2	cadherin 2	gene	DOID:1324	lung cancer		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128504	CDH2	cadherin 2	gene	DOID:1824	status epilepticus		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12125071
12128504	CDH2	cadherin 2	gene	DOID:1909	melanoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128504	CDH2	cadherin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:3275	thymoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:731820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128504	CDH2	cadherin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12128504	CDH2	cadherin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128504	CDH2	cadherin 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart failure	PMID:25741868
12128504	CDH2	cadherin 2	gene	DOID:630	genetic disease		ISO	RGD:731820	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:630	genetic disease		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:35352813|PMID:38075981
12128504	CDH2	cadherin 2	gene	DOID:9000019	Attention Deficit-Hyperactivity Disorder 8		ISO	RGD:731820	D	RGD:7240710	20220720	OMIM			
12128504	CDH2	cadherin 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12128504	CDH2	cadherin 2	gene	DOID:9000918	Disease Progression		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23876460
12128504	CDH2	cadherin 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23876460
12128504	CDH2	cadherin 2	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:731820	D	RGD:9068941	20200924	RGD		mRNA:increased expression:lung	PMID:25593290|REF_RGD_ID:38500244
12128504	CDH2	cadherin 2	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
12128504	CDH2	cadherin 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:731820	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of corpus callosum | ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:31585109
12128504	CDH2	cadherin 2	gene	DOID:9002245	Intestinal Neoplasms		ISO	RGD:731821	D	RGD:9068941	20200609	RGD			PMID:7502046|REF_RGD_ID:734737
12128504	CDH2	cadherin 2	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12387456
12128504	CDH2	cadherin 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12128504	CDH2	cadherin 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12128504	CDH2	cadherin 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12128504	CDH2	cadherin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128504	CDH2	cadherin 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12128504	CDH2	cadherin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31585109
12128504	CDH2	cadherin 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular anomalies	PMID:25741868|PMID:31585109
12128504	CDH2	cadherin 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:731820	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27811057
12128504	CDH2	cadherin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128504	CDH2	cadherin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:731820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1059	intellectual disability		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:1909	melanoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive muscle weakness	PMID:25741868
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128524	PPP1R10	protein phosphatase 1 regulatory subunit 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732967	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050567	orofacial cleft		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050581	brachydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050840	cervical dystonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0051061	stroke		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stroke	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0060321	umbilical hernia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:7240710	20190315	OMIM			
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080233	autosomal dominant intellectual developmental disorder 50		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 50, WITH BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: NAA15-related condition | ClinVar Annotator: match by term: NAA15-related syndrome	PMID:23665959|PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:33103328|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:31130284|PMID:33149276|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30792901|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:10907	microcephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11111	hydronephrosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1115	sarcoma		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11193	syndactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11383	cryptorchidism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1148	polydactyly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11836	clubfoot		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1324	lung cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1826	epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2340	craniosynostosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:23665959|PMID:25741868|PMID:26785492|PMID:28191889|PMID:28990276
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3310	atopic dermatitis		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Atopic eczema	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:540	strabismus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:543	dystonia		ISO	RGD:1343133	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:30792901|PMID:33149276|PMID:36475376|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:630	genetic disease		ISO	RGD:1343133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28191889|PMID:28492532|PMID:29656860|PMID:29758562|PMID:30564305|PMID:30792901|PMID:33149276|PMID:36475376|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:674	cleft palate		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868|PMID:28492532
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002580	Metatarsus Varus		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metatarsus adductus	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28191889|PMID:29656860
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9003507	Premature Birth		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28191889|PMID:29656860
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1343133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007373	Left Ventricular Outflow Obstruction		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular outflow tract obstruction	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9007661	Dwarfism		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:29758562|PMID:37158195|PMID:39039281
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008582	Developmental Disease		ISO	RGD:1343133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12128554	NAA15	N-alpha-acetyltransferase 15, NatA auxiliary subunit	gene	DOID:9970	obesity		ISO	RGD:1343133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:29758562
12128577	S1PR3	sphingosine-1-phosphate receptor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128582	PODXL2	podocalyxin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128582	PODXL2	podocalyxin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128582	PODXL2	podocalyxin like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347781	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128582	PODXL2	podocalyxin like 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12128582	PODXL2	podocalyxin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128582	PODXL2	podocalyxin like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12128582	PODXL2	podocalyxin like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:1115	sarcoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:1909	melanoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:3275	thymoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1348624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128594	ARMC6	armadillo repeat containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12128609	PALM	paralemmin	gene	DOID:1324	lung cancer		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128609	PALM	paralemmin	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1344376	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12128609	PALM	paralemmin	gene	DOID:3275	thymoma		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128609	PALM	paralemmin	gene	DOID:4362	cervical cancer		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128609	PALM	paralemmin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128609	PALM	paralemmin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:10534	stomach cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:1324	lung cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:1909	melanoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1317439	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128636	ZFP64	ZFP64 zinc finger protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317439	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:1115	sarcoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128659	AMZ1	archaelysin family metallopeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:0060058	lymphoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:6039	uveal melanoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12128679	MRPL24	mitochondrial ribosomal protein L24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:10286	prostate carcinoma		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD		protein:decreased tyrosine phosphorylation:prostate gland	PMID:16391854|REF_RGD_ID:7488899
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:1115	sarcoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1318357	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:16399080
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1318358	D	RGD:9068941	20250724	MouseDO		OMIM:188400	
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1318358	D	RGD:9068941	20250724	MouseDO		OMIM:192430	
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:1520	colon carcinoma		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD			PMID:16391854|REF_RGD_ID:7488899
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:1909	melanoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD			PMID:16391854|REF_RGD_ID:7488899
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:1318357	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:23686806|REF_RGD_ID:7488897
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:3905	lung carcinoma		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD			PMID:16391854|REF_RGD_ID:7488899
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:4159	skin cancer		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD			PMID:16391854|REF_RGD_ID:7488899
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:blood	PMID:17900686|REF_RGD_ID:13674160
12128689	CRKL	CRK like proto-oncogene, adaptor protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1318357	D	RGD:9068941	20200609	RGD			PMID:16391854|REF_RGD_ID:7488899
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:0080600	COVID-19		ISO	RGD:1345303	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:8778396	D	RGD:9068941	20200609	RGD			PMID:23018837|REF_RGD_ID:11554170
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:1273	respiratory syncytial virus infectious disease	treatment	ISO	RGD:1345303	D	RGD:9068941	20200609	RGD			PMID:23018837|REF_RGD_ID:11554170
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1345303	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:9001488	Human Influenza		ISO	RGD:1345303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1345303	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1345303	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12128696	RSAD2	radical S-adenosyl methionine domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128706	E2F6	E2F transcription factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128706	E2F6	E2F transcription factor 6	gene	DOID:0111853	primary ciliary dyskinesia 40		ISO	RGD:1605732	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40	PMID:25741868
12128706	E2F6	E2F transcription factor 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12128706	E2F6	E2F transcription factor 6	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605732	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29754146
12128706	E2F6	E2F transcription factor 6	gene	DOID:4362	cervical cancer		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128706	E2F6	E2F transcription factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128706	E2F6	E2F transcription factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128706	E2F6	E2F transcription factor 6	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1605732	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35225430
12128706	E2F6	E2F transcription factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128732	RPS13	ribosomal protein S13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128732	RPS13	ribosomal protein S13	gene	DOID:1324	lung cancer		ISO	RGD:737303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128732	RPS13	ribosomal protein S13	gene	DOID:3275	thymoma		ISO	RGD:737303	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128732	RPS13	ribosomal protein S13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128732	RPS13	ribosomal protein S13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737303	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128742	IFT52	intraflagellar transport 52	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1322228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome | ClinVar Annotator: match by term: Short rib-polydactyly syndrome | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:28492532|PMID:29068549
12128742	IFT52	intraflagellar transport 52	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128742	IFT52	intraflagellar transport 52	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128742	IFT52	intraflagellar transport 52	gene	DOID:1115	sarcoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128742	IFT52	intraflagellar transport 52	gene	DOID:1324	lung cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128742	IFT52	intraflagellar transport 52	gene	DOID:3275	thymoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128742	IFT52	intraflagellar transport 52	gene	DOID:4362	cervical cancer		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128742	IFT52	intraflagellar transport 52	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12128742	IFT52	intraflagellar transport 52	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128742	IFT52	intraflagellar transport 52	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12128742	IFT52	intraflagellar transport 52	gene	DOID:9006222	Short-Rib Thoracic Dysplasia 16 with or without Polydactyly		ISO	RGD:1322228	D	RGD:7240710	20190315	OMIM			
12128742	IFT52	intraflagellar transport 52	gene	DOID:9006222	Short-Rib Thoracic Dysplasia 16 with or without Polydactyly		ISO	RGD:1322228	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IFT52-related condition | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 16 with or without polydactyly	PMID:25741868|PMID:26880018|PMID:28492532
12128742	IFT52	intraflagellar transport 52	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128742	IFT52	intraflagellar transport 52	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128742	IFT52	intraflagellar transport 52	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322228	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128742	IFT52	intraflagellar transport 52	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1322228	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12128760	CENPL	centromere protein L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128760	CENPL	centromere protein L	gene	DOID:1324	lung cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128760	CENPL	centromere protein L	gene	DOID:1909	melanoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128760	CENPL	centromere protein L	gene	DOID:4362	cervical cancer		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128760	CENPL	centromere protein L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128760	CENPL	centromere protein L	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128760	CENPL	centromere protein L	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12128769	PIGH	phosphatidylinositol glycan anchor biosynthesis class H	gene	DOID:10283	prostate cancer		ISO	RGD:1322902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12128769	PIGH	phosphatidylinositol glycan anchor biosynthesis class H	gene	DOID:9003249	Glycosylphosphatidylinositol Biosynthesis Defect 17		ISO	RGD:1322902	D	RGD:7240710	20190315	OMIM			
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:11476	osteoporosis		ISO	RGD:1604062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27976999
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:13001	carotid stenosis		ISO	RGD:1604062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26564003
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:14067	Plasmodium falciparum malaria		ISO	RGD:1604062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19884328
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604062	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:2355	anemia		ISO	RGD:1604062	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19884328
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:3275	thymoma		ISO	RGD:1604062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:4362	cervical cancer		ISO	RGD:1604062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604062	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128781	CLEC11A	C-type lectin domain containing 11A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1346095	D	RGD:7240710	20190315	OMIM			
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1346095	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome	PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26649472|PMID:27232954|PMID:28492532|PMID:28726809|PMID:28976722|PMID:30576498|PMID:32404165|PMID:33486335|PMID:34906476|PMID:9536098
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1346095	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amish infantile epilepsy syndrome | ClinVar Annotator: match by term: GM3 synthase deficiency | ClinVar Annotator: match by term: Infantile epilepsy syndrome | ClinVar Annotator: match by term: SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME | ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome	PMID:15502825|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22990144|PMID:23436467|PMID:24026681|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27232954|PMID:28492532|PMID:28726809|PMID:28976722|PMID:30576498|PMID:31284408|PMID:31440721|PMID:32005694|PMID:32404165|PMID:33486335|PMID:34906476|PMID:36719165|PMID:37645600|PMID:9536098
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:1059	intellectual disability		ISO	RGD:1346095	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:18414213|PMID:25741868
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:630	genetic disease		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:7998	hyperthyroidism		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9001581	Constipation		ISO	RGD:1346095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532|PMID:28976722|PMID:30576498|PMID:33486335|PMID:34906476
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:28976722|PMID:30576498|PMID:33486335|PMID:34906476
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9007661	Dwarfism		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346095	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868|PMID:28492532|PMID:28976722|PMID:30576498|PMID:33486335|PMID:34906476
12128792	ST3GAL5	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	gene	DOID:9834	hyperopia		ISO	RGD:1346095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1350980	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1350980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:11063732|PMID:14597761
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1350980	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17092649
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:3652	Leigh disease		ISO	RGD:1350980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:11063732|PMID:14597761|PMID:15823923|PMID:17403843|PMID:18587274|PMID:23645088|PMID:25741868|PMID:7496173
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:3687	MELAS syndrome		ISO	RGD:1350980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MELAS syndrome	PMID:25741868
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1350980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY	PMID:12414820|PMID:32906214
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1350980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1350980	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitochondrial disorder	PMID:11063732|PMID:14597761
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:1350980	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LEBER OPTIC ATROPHY	PMID:8037217
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1350980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: VENOUS THROMBOEMBOLISM	PMID:25741868
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:9003760	Myalgia		ISO	RGD:1350980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12128803	MT-CO3	mitochondrially encoded cytochrome c oxidase III	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350980	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:28027978
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:732453	D	RGD:9068941	20260709	MouseDO		OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:736989	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:23001123
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050629	Aicardi-Goutieres syndrome		ISO	RGD:736989	D	RGD:9068941	20260709	RGD		DNA:mutations:exons:	PMID:23001123|REF_RGD_ID:11069491
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050847	sleep apnea		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060249	scoliosis		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060257	dyschromatosis symmetrica hereditaria		ISO	RGD:736989	D	RGD:7240710	20180130	OMIM			
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060257	dyschromatosis symmetrica hereditaria		ISO	RGD:736989	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities	PMID:12916015|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16536805|PMID:16817193|PMID:16935814|PMID:17225010|PMID:17569068|PMID:17576681|PMID:19017046|PMID:19060901|PMID:20069304|PMID:20186421|PMID:20300939|PMID:20301648|PMID:20430589|PMID:20439151|PMID:21182352|PMID:21211811|PMID:21924887|PMID:21933234|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24033266|PMID:24262145|PMID:24950769|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26372505|PMID:26629815|PMID:26802932|PMID:26892242|PMID:27937139|PMID:27943079|PMID:28139822|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29691679|PMID:29775506|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:30755392|PMID:31423758|PMID:31772029|PMID:32258229|PMID:32593192|PMID:32801363|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34073717|PMID:34343497|PMID:34702576|PMID:34988976|PMID:35551623|PMID:35859177|PMID:8627722|PMID:9536098|PMID:9889202
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060257	dyschromatosis symmetrica hereditaria		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DYSCHROMATOSIS SYMMETRICA HEREDITARIA | ClinVar Annotator: match by term: Dyschromatosis symmetrica hereditaria | ClinVar Annotator: match by term: Symmetric dyschromatosis of the extremities | ClinVar Annotator: match by term: Symmetrical dyschromatosis of extremities	PMID:12916015|PMID:15146470|PMID:15489923|PMID:15659327|PMID:16199547|PMID:17576681|PMID:18705826|PMID:20186421|PMID:20430589|PMID:21182352|PMID:21211811|PMID:21924887|PMID:22974014|PMID:24950769|PMID:25468572|PMID:25741868|PMID:26576034|PMID:26892242|PMID:28492532|PMID:29185800|PMID:29536976|PMID:29896739|PMID:29915444|PMID:30692772|PMID:32258229|PMID:32593192|PMID:34073717|PMID:8627722|PMID:9536098
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060785	typical adult-onset autosomal dominant demyelinating leukodystrophy		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult onset leukodystrophy	PMID:15955093|PMID:16817193|PMID:17576681|PMID:19017046|PMID:23001123|PMID:24262145|PMID:25243380|PMID:25326637|PMID:25456137|PMID:25741868|PMID:26372505|PMID:26802932|PMID:26892242|PMID:27937139|PMID:28492532|PMID:28561207|PMID:29691679|PMID:29775506|PMID:32801363|PMID:33307271|PMID:34702576|PMID:9536098
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		mRNA:increased expression:mucosa of stomach (human)	PMID:30563560|REF_RGD_ID:14700703
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:1059	intellectual disability		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:19060901|PMID:20301648|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28518168|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:32461654|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35859177|PMID:36975179|PMID:37421629|PMID:39680957|PMID:41022715|PMID:9889202
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:1059	intellectual disability		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:10907	microcephaly		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:1115	sarcoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:11166	Human papillomavirus infectious disease	exacerbates	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		associated with human immunodeficiency virus infectious disease;DNA:SNPs, haplotype:introns, 3' utr: multiple (human)	PMID:31882741|REF_RGD_ID:125097510
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:12835	quadriplegia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetraplegia	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:12849	autistic disorder		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:1826	epilepsy		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:1969	cerebral palsy		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:3275	thymoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:3744	cervical squamous cell carcinoma	disease_progression	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		protein:increased expression:cervix squamous epithelium (human)	PMID:28109322|REF_RGD_ID:125097518
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:5041	esophageal cancer		ISO	RGD:736989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		associated with human immunodeficiency virus infectious disease, hepatitis C;DNA:SNPs:exon 2, 3' utr:multiple (human)	PMID:29018269|REF_RGD_ID:125097516
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:540	strabismus		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:543	dystonia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:630	genetic disease		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146470|PMID:15659327|PMID:20186421|PMID:20300939|PMID:22974014|PMID:24950769|PMID:25468572|PMID:25741868|PMID:28492532|PMID:29185800|PMID:29896739|PMID:32258229|PMID:32593192|PMID:34073717
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9000343	Vision Disorders		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:732453	D	RGD:9068941	20210402	RGD		associated with Coxsackievirus Infections	PMID:27584568|REF_RGD_ID:125097517
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:732453	D	RGD:9068941	20210402	RGD		protein:alternative form:heart (mouse)	PMID:30669342|REF_RGD_ID:125097512
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9000495	Tremor		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9001443	Hypercapnia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercapnia	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		associated with human immunodeficiency virus infectious disease;DNA:missense mutation:exon 2, 3' utr:p.K384R  (rs2229857, rs1127326) (human)	PMID:29906476|REF_RGD_ID:125097514
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004017	Chronic Hepatitis C	no_association	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		DNA:SNP:exon: (rs1127309) (human)	PMID:26911666|REF_RGD_ID:11554370
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		DNA:silent mutation:CDS:p.V849V (rs1127309)  (human)	PMID:19434718|REF_RGD_ID:125097513
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		DNA:snps, haplotype: (rs7515339, rs903323) (human)	PMID:17979507|REF_RGD_ID:38599150
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:71099	D	RGD:9068941	20200609	RGD			PMID:18520702|REF_RGD_ID:10755331
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9005099	Salmonella Infections, Animal		ISO	RGD:732453	D	RGD:9068941	20210402	RGD		mRNA:splice variant:liver (mouse)	PMID:12228285|REF_RGD_ID:125097511
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9007522	Aicardi-Goutieres Syndrome 6		ISO	RGD:736989	D	RGD:7240710	20180130	OMIM			
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9007522	Aicardi-Goutieres Syndrome 6		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 6 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 6	PMID:15102079|PMID:15146470|PMID:15347341|PMID:15489923|PMID:15659327|PMID:15955093|PMID:16199547|PMID:16215765|PMID:16536805|PMID:16917490|PMID:17225010|PMID:17569068|PMID:17576681|PMID:18705826|PMID:20186421|PMID:20430589|PMID:20439151|PMID:21083709|PMID:21933234|PMID:22336994|PMID:22974014|PMID:23001123|PMID:24446047|PMID:24950769|PMID:25456137|PMID:25468572|PMID:25604658|PMID:25640679|PMID:25741868|PMID:25982145|PMID:26576034|PMID:26892242|PMID:27230815|PMID:27943079|PMID:28492532|PMID:28502085|PMID:28561207|PMID:29185800|PMID:29221912|PMID:29536976|PMID:29603717|PMID:29896739|PMID:29915444|PMID:30564185|PMID:30692772|PMID:31069529|PMID:31423758|PMID:32258229|PMID:32593192|PMID:32996714|PMID:33289110|PMID:33307271|PMID:34073717|PMID:34631961|PMID:34988976|PMID:35551623|PMID:39469661|PMID:9536098
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9007573	Flatfoot		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9007661	Dwarfism		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:19060901|PMID:20301648|PMID:23001123|PMID:24033266|PMID:24262145|PMID:25456137|PMID:25604658|PMID:25741868|PMID:26629815|PMID:28139822|PMID:28492532|PMID:28518168|PMID:28561207|PMID:29221912|PMID:29603717|PMID:31772029|PMID:32461654|PMID:33289110|PMID:33307271|PMID:33723056|PMID:34343497|PMID:35859177|PMID:36975179|PMID:37421629|PMID:39680957|PMID:41022715|PMID:9889202
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736989	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9008163	Chronic Hepatitis B	treatment	ISO	RGD:736989	D	RGD:9068941	20210402	RGD		DNA:SNP:enhancer: (rs4845384) (human)	PMID:24351124|REF_RGD_ID:125097515
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28188287
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9256	colorectal cancer		ISO	RGD:736989	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9834	hyperopia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12128828	ADAR	adenosine deaminase RNA specific	gene	DOID:9888	alternating esotropia		ISO	RGD:736989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alternating esotropia	PMID:25741868|PMID:28492532
12128847	NRM	nurim	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352240	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12128847	NRM	nurim	gene	DOID:0050741	alcohol dependence		ISO	RGD:1352240	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs2269705)	PMID:27151647|REF_RGD_ID:405650603
12128914	MUC19	mucin 19, oligomeric	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1343631	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784
12128914	MUC19	mucin 19, oligomeric	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1320940	D	RGD:9068941	20220825	MouseDO		OMIM:270150	
12128914	MUC19	mucin 19, oligomeric	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1343631	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:conjunctival epithelial cell	PMID:18184611|REF_RGD_ID:7364736
12128959	HOXD11	homeobox D11	gene	DOID:0080006	bone development disease		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7925020
12128959	HOXD11	homeobox D11	gene	DOID:12336	male infertility		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7925020
12128959	HOXD11	homeobox D11	gene	DOID:12849	autistic disorder		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19540081
12128959	HOXD11	homeobox D11	gene	DOID:3070	high grade glioma		ISO	RGD:1346896	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:33614284
12128959	HOXD11	homeobox D11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
12128959	HOXD11	homeobox D11	gene	DOID:557	kidney disease		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412
12128959	HOXD11	homeobox D11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128959	HOXD11	homeobox D11	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12128959	HOXD11	homeobox D11	gene	DOID:9000918	Disease Progression		ISO	RGD:1346896	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:33614284
12128959	HOXD11	homeobox D11	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303177
12128959	HOXD11	homeobox D11	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:7730597	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:verterbra	PMID:18327665|REF_RGD_ID:11354896
12128959	HOXD11	homeobox D11	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7596412|PMID:7925020|PMID:8620844
12128959	HOXD11	homeobox D11	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22227861
12128959	HOXD11	homeobox D11	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15818620
12128990	NRXN2	neurexin 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NRXN2-related autism spectrum disorder	
12128990	NRXN2	neurexin 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:735900	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	
12128990	NRXN2	neurexin 2	gene	DOID:1059	intellectual disability		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:1115	sarcoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12128990	NRXN2	neurexin 2	gene	DOID:12849	autistic disorder		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
12128990	NRXN2	neurexin 2	gene	DOID:1324	lung cancer		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12128990	NRXN2	neurexin 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: atrial septal defect	
12128990	NRXN2	neurexin 2	gene	DOID:1909	melanoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12128990	NRXN2	neurexin 2	gene	DOID:3070	high grade glioma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12128990	NRXN2	neurexin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:735900	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12128990	NRXN2	neurexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12128990	NRXN2	neurexin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
12128990	NRXN2	neurexin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12128990	NRXN2	neurexin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12128990	NRXN2	neurexin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:21424692|PMID:21600320|PMID:25423136|PMID:25741868|PMID:25745399
12128990	NRXN2	neurexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12128990	NRXN2	neurexin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:735900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:0060058	lymphoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1059	intellectual disability		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:37092538
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1115	sarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1324	lung cancer		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1826	epilepsy		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:37092538
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:1909	melanoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1322982	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1322982	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:630	genetic disease		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322982	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CNOT9-associated neurodevelopmental disorder	PMID:25741868|PMID:37092538
12129048	CNOT9	CCR4-NOT transcription complex subunit 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322982	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:37092538
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1317811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:1324	lung cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:1909	melanoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:3275	thymoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:4914	esophagus adenocarcinoma		ISO	RGD:1317811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23525077
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1317811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17942768
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129071	ELMO1	engulfment and cell motility 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:1115	sarcoma		ISO	RGD:736231	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:1909	melanoma		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129103	MTERF1	mitochondrial transcription termination factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736231	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0050463	campomelic dysplasia		ISO	RGD:1322513	D	RGD:7240710	20180130	OMIM			
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0050463	campomelic dysplasia		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ACAMPOMELIC CAMPOMELIC DYSPLASIA | ClinVar Annotator: match by term: CAMPOMELIC DYSPLASIA | ClinVar Annotator: match by term: CMPD1/SRA1 | ClinVar Annotator: match by term: Campomelic Dysplasia | ClinVar Annotator: match by term: Campomelic dysplasia | ClinVar Annotator: match by term: Camptomelic dysplasia | ClinVar Annotator: match by term: SOX9-related condition	PMID:10951468|PMID:11323423|PMID:11371614|PMID:12810722|PMID:15300742|PMID:15806394|PMID:16199547|PMID:17576681|PMID:1809232|PMID:19033726|PMID:19921652|PMID:20301724|PMID:20513132|PMID:20812307|PMID:21218044|PMID:21373255|PMID:21412441|PMID:21614988|PMID:23564514|PMID:24038782|PMID:25741868|PMID:25983619|PMID:26078652|PMID:26633542|PMID:26740947|PMID:27899157|PMID:28492532|PMID:29542186|PMID:31389106|PMID:31549955|PMID:32381727|PMID:32595695|PMID:34092239|PMID:39039281|PMID:7485151|PMID:7990924|PMID:8001137|PMID:9002675|PMID:9452058|PMID:9536098
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0050581	brachydactyly		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20868653
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0060249	scoliosis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0060260	ptosis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0060321	umbilical hernia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19639023
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0111763	46,XX sex reversal 2		ISO	RGD:1322513	D	RGD:7240710	20241204	OMIM			
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0111763	46,XX sex reversal 2		ISO	RGD:1322513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XX SEX REVERSAL 2	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0111775	46,XY sex reversal 10		ISO	RGD:1322513	D	RGD:7240710	20241204	OMIM			
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:0111775	46,XY sex reversal 10		ISO	RGD:1322513	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 46,XY SEX REVERSAL 10	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:10283	prostate cancer		ISO	RGD:1322513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:10283	prostate cancer		ISO	RGD:1322513	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:1115	sarcoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:12849	autistic disorder		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:14447	gonadal dysgenesis		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gonadal dysgenesis	PMID:25741868|PMID:26633542|PMID:28492532|PMID:34092239
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10446171|PMID:21614988|PMID:27196604|PMID:27899157|PMID:31389106|PMID:35101336|PMID:9002675
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:1909	melanoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:305	carcinoma		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:3905	lung carcinoma	exacerbates	ISO	RGD:1605727	D	RGD:9068941	20220407	RGD			PMID:31221478|REF_RGD_ID:151665930
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19234473
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:630	genetic disease		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10446171|PMID:10951468|PMID:12161603|PMID:20513132|PMID:23551858|PMID:24704791|PMID:25741868|PMID:28492532|PMID:9066880
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:65	connective tissue disease		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:15806394|PMID:1809232|PMID:20301724|PMID:25741868|PMID:28492532|PMID:8001137|PMID:9002675
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:674	cleft palate		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:36914835
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322513	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9001561	Pseudovaginal Perineoscrotal Hypospadias		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9002589	Bone Fractures		ISO	RGD:620474	D	RGD:9068941	20200609	RGD			PMID:21252473|REF_RGD_ID:11252151
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9003184	Campomelic Dysplasia with Autosomal Sex Reversal		ISO	RGD:1322513	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL	PMID:11323423|PMID:12810722|PMID:15806394|PMID:1809232|PMID:20301724|PMID:21412441|PMID:25741868|PMID:26078652|PMID:26633542|PMID:28492532|PMID:31389106|PMID:34092239|PMID:7990924|PMID:8001137|PMID:9002675
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1322513	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9004795	Congenital Hand Deformities		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19639023
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9005616	Micrognathism		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9006314	Bent Bone Dysplasia Syndrome		ISO	RGD:1322513	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Bent bone dysplasia	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12783851|PMID:25741868
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1322513	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11807034
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129154	SOX9	SRY-box transcription factor 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1322513	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:10534	stomach cancer		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:1324	lung cancer		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:1909	melanoma		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:6039	uveal melanoma		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129159	RPLP2	ribosomal protein lateral stalk subunit P2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735289	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12129168	CCDC83	coiled-coil domain containing 83	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129168	CCDC83	coiled-coil domain containing 83	gene	DOID:10534	stomach cancer		ISO	RGD:1606128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129168	CCDC83	coiled-coil domain containing 83	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12129168	CCDC83	coiled-coil domain containing 83	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129187	CCNA1	cyclin A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129187	CCNA1	cyclin A1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1321661	D	RGD:9068941	20200609	RGD		human gene, mouse model	PMID:18612129|REF_RGD_ID:2316302
12129187	CCNA1	cyclin A1	gene	DOID:11166	Human papillomavirus infectious disease		ISO	RGD:1321661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896
12129187	CCNA1	cyclin A1	gene	DOID:1909	melanoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129187	CCNA1	cyclin A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129187	CCNA1	cyclin A1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23358896|PMID:29464035
12129187	CCNA1	cyclin A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129187	CCNA1	cyclin A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129187	CCNA1	cyclin A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12029619
12129187	CCNA1	cyclin A1	gene	DOID:9004207	Testicular Neoplasms		ISO	RGD:1321661	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:testis (human)	PMID:15800920|REF_RGD_ID:2289152
12129187	CCNA1	cyclin A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129208	ZAR1L	zygote arrest 1 like	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:2311474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12129208	ZAR1L	zygote arrest 1 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2311474	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28492532|PMID:29766361|PMID:31843900
12129208	ZAR1L	zygote arrest 1 like	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:2311474	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:28492532|PMID:29766361|PMID:31843900
12129208	ZAR1L	zygote arrest 1 like	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:2311474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25524337|PMID:25741868|PMID:27532257|PMID:28492532|PMID:29907873|PMID:30371277|PMID:35626289
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0110110	atrial heart septal defect 5		ISO	RGD:735789	D	RGD:7240710	20180130	OMIM			
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0110110	atrial heart septal defect 5		ISO	RGD:735789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 5	PMID:18458017|PMID:27125413|PMID:28492532
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:735789	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24736382|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277|PMID:32720330|PMID:7481775
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0110317	hypertrophic cardiomyopathy 11		ISO	RGD:735789	D	RGD:7240710	20180130	OMIM			
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:0110456	dilated cardiomyopathy 1R		ISO	RGD:735789	D	RGD:7240710	20180228	OMIM			
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:10763	hypertension		ISO	RGD:2026	D	RGD:9068941	20200609	RGD			PMID:16343576|REF_RGD_ID:1598724
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28492532|PMID:30371277
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:36252119|PMID:37342443
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:32720330|PMID:36252119|PMID:37342443
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:32720330|PMID:36252119|PMID:37342443|PMID:7481775
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735789	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Left ventricular dilatation | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:12860912|PMID:14729850|PMID:15058760|PMID:16267253|PMID:16611632|PMID:17611253|PMID:17623677|PMID:17916152|PMID:17947298|PMID:18379140|PMID:18400036|PMID:18506004|PMID:18519860|PMID:18801786|PMID:19184181|PMID:19467449|PMID:19799913|PMID:20497191|PMID:20965760|PMID:21297463|PMID:21524215|PMID:21551322|PMID:21622575|PMID:22464770|PMID:24033266|PMID:24503780|PMID:24736382|PMID:25201647|PMID:25741868|PMID:26061005|PMID:26715934|PMID:27532257|PMID:28416588|PMID:28492532|PMID:30371277|PMID:30847666|PMID:31397097|PMID:32720330|PMID:33500567|PMID:33673806|PMID:34540771|PMID:36252119|PMID:37342443
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:735789	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.Arg312His, p.Glu361Gly (human)	PMID:9563954|REF_RGD_ID:1559158
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2026	D	RGD:9068941	20200609	RGD			PMID:11680626|REF_RGD_ID:1598729
12129218	ACTC1	actin alpha cardiac muscle 1	gene	DOID:9835	refractive error		ISO	RGD:735789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20835239
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:1909	melanoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349467	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:289	endometriosis		ISO	RGD:1349467	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:3275	thymoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1349467	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129228	ABI3BP	ABI family member 3 binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129340	PRSS21	serine protease 21	gene	DOID:1115	sarcoma		ISO	RGD:1344108	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129340	PRSS21	serine protease 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129340	PRSS21	serine protease 21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129340	PRSS21	serine protease 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129349	LGSN	lengsin, lens protein with glutamine synthetase domain	gene	DOID:10534	stomach cancer		ISO	RGD:1344000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129349	LGSN	lengsin, lens protein with glutamine synthetase domain	gene	DOID:1324	lung cancer		ISO	RGD:1344000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129349	LGSN	lengsin, lens protein with glutamine synthetase domain	gene	DOID:3275	thymoma		ISO	RGD:1344000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12129349	LGSN	lengsin, lens protein with glutamine synthetase domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129364	INTS13	integrator complex subunit 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129364	INTS13	integrator complex subunit 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129364	INTS13	integrator complex subunit 13	gene	DOID:10534	stomach cancer		ISO	RGD:1342865	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129364	INTS13	integrator complex subunit 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129364	INTS13	integrator complex subunit 13	gene	DOID:1324	lung cancer		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129364	INTS13	integrator complex subunit 13	gene	DOID:3070	high grade glioma		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12129364	INTS13	integrator complex subunit 13	gene	DOID:3275	thymoma		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12129364	INTS13	integrator complex subunit 13	gene	DOID:4362	cervical cancer		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129364	INTS13	integrator complex subunit 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129364	INTS13	integrator complex subunit 13	gene	DOID:9001341	Chloracne		ISO	RGD:1342865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12129364	INTS13	integrator complex subunit 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129364	INTS13	integrator complex subunit 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060879	primary hypomagnesemia		ISO	RGD:1317777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:7240710	20180130	OMIM			
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:0060884	renal hypomagnesemia 6		ISO	RGD:1317777	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypomagnesemia 6	PMID:24699222|PMID:25741868|PMID:28492532|PMID:34604137
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1317777	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:1909	melanoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:557	kidney disease		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:630	genetic disease		ISO	RGD:1317777	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317777	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:7240710	20180130	OMIM			
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9005063	HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1		ISO	RGD:1317777	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hypomagnesemia, seizures, and intellectual disability 1	PMID:24699222|PMID:25741868|PMID:28492532|PMID:33568487|PMID:34604137
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317777	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129392	CNNM2	cyclin and CBS domain divalent metal cation transport mediator 2	gene	DOID:9008449	Tetany		ISO	RGD:1317777	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23027747
12129412	ZFAND1	zinc finger AN1-type containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129412	ZFAND1	zinc finger AN1-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605942	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129412	ZFAND1	zinc finger AN1-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129412	ZFAND1	zinc finger AN1-type containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129426	EXPH5	exophilin 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129426	EXPH5	exophilin 5	gene	DOID:10534	stomach cancer		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129426	EXPH5	exophilin 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129426	EXPH5	exophilin 5	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1604627	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12129426	EXPH5	exophilin 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12129426	EXPH5	exophilin 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1604627	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129426	EXPH5	exophilin 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12129426	EXPH5	exophilin 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129426	EXPH5	exophilin 5	gene	DOID:630	genetic disease		ISO	RGD:1604627	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12129426	EXPH5	exophilin 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129426	EXPH5	exophilin 5	gene	DOID:9008927	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive		ISO	RGD:1604627	D	RGD:7240710	20180130	OMIM			
12129426	EXPH5	exophilin 5	gene	DOID:9008927	Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive		ISO	RGD:1604627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA SIMPLEX 4, LOCALIZED OR GENERALIZED INTERMEDIATE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EXPH5-related condition | ClinVar Annotator: match by term: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive	PMID:23176819|PMID:25741868|PMID:27730671|PMID:28492532|PMID:28830826|PMID:30016581|PMID:32176379|PMID:37462267
12129462	MID1	midline 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129462	MID1	midline 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129462	MID1	midline 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12129462	MID1	midline 1	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:732275	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Transposition of the great arteries	PMID:16757948|PMID:17352659|PMID:25741868
12129462	MID1	midline 1	gene	DOID:0080697	Opitz GBBB syndrome		ISO	RGD:732275	D	RGD:7240710	20180130	OMIM			
12129462	MID1	midline 1	gene	DOID:0080697	Opitz GBBB syndrome		ISO	RGD:732275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ SYNDROME, X-LINKED | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I	PMID:11030761|PMID:15558842|PMID:17221865|PMID:21326312|PMID:25304119|PMID:25741868|PMID:28492532
12129462	MID1	midline 1	gene	DOID:0080698	Teebi hypertelorism syndrome 1		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Opitz-Frias syndrome	PMID:11030761|PMID:15558842|PMID:17221865|PMID:21326312|PMID:25741868|PMID:28492532
12129462	MID1	midline 1	gene	DOID:1059	intellectual disability		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12129462	MID1	midline 1	gene	DOID:10629	microphthalmia		ISO	RGD:732276	D	RGD:9068941	20220825	MouseDO		OMIM:206900 | OMIM:300166 | OMIM:309801 | OMIM:600165 | OMIM:601186 | OMIM:607932 | OMIM:609549 | OMIM:610093 | OMIM:610125 | OMIM:611038 | OMIM:611040 | OMIM:611897 | OMIM:613094 | OMIM:613704 | OMIM:615972	
12129462	MID1	midline 1	gene	DOID:10892	hypospadias		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12129462	MID1	midline 1	gene	DOID:10907	microcephaly		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12129462	MID1	midline 1	gene	DOID:1115	sarcoma		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129462	MID1	midline 1	gene	DOID:12849	autistic disorder		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12129462	MID1	midline 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12129462	MID1	midline 1	gene	DOID:1682	congenital heart disease		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
12129462	MID1	midline 1	gene	DOID:1826	epilepsy		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12129462	MID1	midline 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12129462	MID1	midline 1	gene	DOID:2355	anemia		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12129462	MID1	midline 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:732275	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:15121778|PMID:15558842|PMID:25741868
12129462	MID1	midline 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129462	MID1	midline 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129462	MID1	midline 1	gene	DOID:630	genetic disease		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12129462	MID1	midline 1	gene	DOID:674	cleft palate		ISO	RGD:732275	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:16757948|PMID:17221865|PMID:17352659|PMID:18360914|PMID:18949047|PMID:25207814|PMID:25216264|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532
12129462	MID1	midline 1	gene	DOID:8927	learning disability		ISO	RGD:732275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Learning disability	PMID:17221865|PMID:18360914|PMID:18949047|PMID:25207814|PMID:25216264|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532
12129462	MID1	midline 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
12129462	MID1	midline 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:732275	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12129462	MID1	midline 1	gene	DOID:9004147	Anosmia		ISO	RGD:732275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anosmia	PMID:17221865|PMID:18360914|PMID:18949047|PMID:25207814|PMID:25216264|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532
12129462	MID1	midline 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
12129462	MID1	midline 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:17576681|PMID:28492532|PMID:9536098
12129462	MID1	midline 1	gene	DOID:9007742	B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations		ISO	RGD:732275	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations	PMID:25741868
12129462	MID1	midline 1	gene	DOID:9007764	Penoscrotal Transposition		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Penoscrotal transposition	PMID:25741868
12129462	MID1	midline 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
12129462	MID1	midline 1	gene	DOID:9296	cleft lip		ISO	RGD:732275	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:17221865|PMID:18360914|PMID:18949047|PMID:25207814|PMID:25216264|PMID:25741868|PMID:25874572|PMID:27749392|PMID:28492532
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:2328	D	RGD:9068941	20250109	RGD		protein:decreased expression:pituitary gland	PMID:21980073|REF_RGD_ID:7241005
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21980073
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:5394	prolactinoma		ISO	RGD:736554	D	RGD:9068941	20250109	RGD		protein:decreased expression:pituitary gland	PMID:21980073|REF_RGD_ID:7241005
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:9004484	Sepsis		ISO	RGD:2328	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:11792653|REF_RGD_ID:625506
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12129491	CEBPD	CCAAT enhancer binding protein delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17234736
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:1909	melanoma		ISO	RGD:735949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:3275	thymoma		ISO	RGD:735949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735949	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735949	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12129496	RAMP1	receptor activity modifying protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:735949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12129514	SP140	SP140 nuclear body protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:0060058	lymphoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129514	SP140	SP140 nuclear body protein	gene	DOID:1115	sarcoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:1909	melanoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:2394	ovarian cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12129514	SP140	SP140 nuclear body protein	gene	DOID:4362	cervical cancer		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129514	SP140	SP140 nuclear body protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12129514	SP140	SP140 nuclear body protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1314926	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129514	SP140	SP140 nuclear body protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129514	SP140	SP140 nuclear body protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1314926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12129514	SP140	SP140 nuclear body protein	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1314926	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18758461
12129514	SP140	SP140 nuclear body protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129514	SP140	SP140 nuclear body protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129514	SP140	SP140 nuclear body protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314926	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129567	ANO4	anoctamin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129567	ANO4	anoctamin 4	gene	DOID:0060170	generalized epilepsy with febrile seizures plus		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus	PMID:25741868
12129567	ANO4	anoctamin 4	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868
12129567	ANO4	anoctamin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129567	ANO4	anoctamin 4	gene	DOID:1324	lung cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129567	ANO4	anoctamin 4	gene	DOID:289	endometriosis		ISO	RGD:1321043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12129567	ANO4	anoctamin 4	gene	DOID:303	substance-related disorder		ISO	RGD:1321043	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12129567	ANO4	anoctamin 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1321043	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Temporal lobe epilepsy	
12129567	ANO4	anoctamin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129567	ANO4	anoctamin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129567	ANO4	anoctamin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129619	TNFSF13	TNF superfamily member 13	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1314162	D	RGD:9068941	20200609	RGD			PMID:15488762|REF_RGD_ID:1549466
12129619	TNFSF13	TNF superfamily member 13	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1314162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197929
12129619	TNFSF13	TNF superfamily member 13	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1314162	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15488762|REF_RGD_ID:1549466
12129619	TNFSF13	TNF superfamily member 13	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1314162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12129619	TNFSF13	TNF superfamily member 13	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1314162	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18423122
12129630	TMEM91	transmembrane protein 91	gene	DOID:10534	stomach cancer		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129630	TMEM91	transmembrane protein 91	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129630	TMEM91	transmembrane protein 91	gene	DOID:1115	sarcoma		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129630	TMEM91	transmembrane protein 91	gene	DOID:1909	melanoma		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129630	TMEM91	transmembrane protein 91	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129630	TMEM91	transmembrane protein 91	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1321983	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism | ClinVar Annotator: match by term: congenital hypothyroidism	PMID:25741868
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:1909	melanoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1321983	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:5419	schizophrenia		ISO	RGD:1321983	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:630	genetic disease		ISO	RGD:1321983	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1321983	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:25741868
12129676	SLC26A7	solute carrier family 26 member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321983	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129699	SEMA6D	semaphorin 6D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129699	SEMA6D	semaphorin 6D	gene	DOID:10534	stomach cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129699	SEMA6D	semaphorin 6D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129699	SEMA6D	semaphorin 6D	gene	DOID:1324	lung cancer		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129699	SEMA6D	semaphorin 6D	gene	DOID:1909	melanoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12129699	SEMA6D	semaphorin 6D	gene	DOID:303	substance-related disorder		ISO	RGD:1605040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12129699	SEMA6D	semaphorin 6D	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12129699	SEMA6D	semaphorin 6D	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12129699	SEMA6D	semaphorin 6D	gene	DOID:5041	esophageal cancer		ISO	RGD:1605040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129699	SEMA6D	semaphorin 6D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129699	SEMA6D	semaphorin 6D	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319536	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319536	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129736	CHIC2	cysteine rich hydrophobic domain 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319536	D	RGD:7240710	20180130	OMIM			
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:4989	pancreatitis		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:6000	congestive heart failure		ISO	RGD:1351109	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:9000918	Disease Progression		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12129746	MIR29C-2	microRNA mir-29c-2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351109	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106|PMID:30515189
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129842	TMA16	translation machinery associated 16 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605071	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129853	SH2D6	SH2 domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129853	SH2D6	SH2 domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129853	SH2D6	SH2 domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:1909	melanoma		ISO	RGD:1318672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129873	CNNM1	cyclin and CBS domain divalent metal cation transport mediator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:3070	high grade glioma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:4362	cervical cancer		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129895	PLPPR4	phospholipid phosphatase related 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605099	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1313816	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:10534	stomach cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:1059	intellectual disability		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:1115	sarcoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:12849	autistic disorder		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:1324	lung cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:4362	cervical cancer		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:5041	esophageal cancer		ISO	RGD:1313816	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:6039	uveal melanoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129910	TAF1C	TATA-box binding protein associated factor, RNA polymerase I subunit C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313816	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:0040090	autoimmune gastritis		ISO	RGD:10213	D	RGD:9068941	20200609	RGD			PMID:8393475|REF_RGD_ID:14696740
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:0040090	autoimmune gastritis		ISO	RGD:737185	D	RGD:9068941	20200609	RGD			PMID:7517707|REF_RGD_ID:14696746
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:737185	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:exon, stomach, plasma	PMID:23317218|REF_RGD_ID:14696738
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:11476	osteoporosis	treatment	ISO	RGD:10213	D	RGD:9068941	20200609	RGD			PMID:26869358|REF_RGD_ID:14696735
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:8757	gastric mucosal hypertrophy		ISO	RGD:10213	D	RGD:9068941	20200609	RGD			PMID:20476858|REF_RGD_ID:14696744
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:8929	atrophic gastritis		ISO	RGD:737185	D	RGD:9068941	20200609	RGD			PMID:30539573|REF_RGD_ID:14696739
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2178	D	RGD:9068941	20200609	RGD			PMID:20237950|REF_RGD_ID:14696743
12129958	ATP4B	ATPase H+/K+ transporting subunit beta	gene	DOID:9970	obesity	treatment	ISO	RGD:2178	D	RGD:9068941	20200609	RGD			PMID:25822172|REF_RGD_ID:14696745
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322337	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12129969	POLDIP3	DNA polymerase delta interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322337	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317950	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12129985	SRPK1	SRSF protein kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:10534	stomach cancer		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:5041	esophageal cancer		ISO	RGD:1323017	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1323017	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12130004	MRPS10	mitochondrial ribosomal protein S10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130018	ENPP6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130018	ENPP6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:1115	sarcoma		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130018	ENPP6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:12849	autistic disorder		ISO	RGD:1323210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12130018	ENPP6	ectonucleotide pyrophosphatase/phosphodiesterase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:10534	stomach cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1115	sarcoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1324	lung cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:1909	melanoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130030	ASAP2	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130081	ANXA9	annexin A9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130081	ANXA9	annexin A9	gene	DOID:10534	stomach cancer		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130081	ANXA9	annexin A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130081	ANXA9	annexin A9	gene	DOID:1909	melanoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130081	ANXA9	annexin A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130081	ANXA9	annexin A9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130081	ANXA9	annexin A9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130116	WDR7	WD repeat domain 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130116	WDR7	WD repeat domain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130116	WDR7	WD repeat domain 7	gene	DOID:10534	stomach cancer		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130116	WDR7	WD repeat domain 7	gene	DOID:1324	lung cancer		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130116	WDR7	WD repeat domain 7	gene	DOID:1909	melanoma		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130116	WDR7	WD repeat domain 7	gene	DOID:4362	cervical cancer		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130116	WDR7	WD repeat domain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:736419	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130116	WDR7	WD repeat domain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130116	WDR7	WD repeat domain 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130116	WDR7	WD repeat domain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130116	WDR7	WD repeat domain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736419	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:1324	lung cancer		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:2841	asthma		ISO	RGD:620413	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:20423833|REF_RGD_ID:9491823
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1604394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130154	PRMT3	protein arginine methyltransferase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:0080600	COVID-19		ISO	RGD:1315708	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315708	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315708	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130174	MLF1	myeloid leukemia factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:0080296	hypomyelinating leukodystrophy 14		ISO	RGD:1344837	D	RGD:7240710	20190315	OMIM			
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:0080296	hypomyelinating leukodystrophy 14		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 14 | ClinVar Annotator: match by term: UFM1-related condition	PMID:25741868|PMID:28492532|PMID:29868776
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:1909	melanoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1344837	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130196	UFM1	ubiquitin fold modifier 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1344837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12130211	CEP44	centrosomal protein 44	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130211	CEP44	centrosomal protein 44	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130211	CEP44	centrosomal protein 44	gene	DOID:0060058	lymphoma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12130211	CEP44	centrosomal protein 44	gene	DOID:10534	stomach cancer		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130211	CEP44	centrosomal protein 44	gene	DOID:3070	high grade glioma		ISO	RGD:1318333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130211	CEP44	centrosomal protein 44	gene	DOID:5041	esophageal cancer		ISO	RGD:1318333	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130237	PLPP4	phospholipid phosphatase 4	gene	DOID:1324	lung cancer		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130237	PLPP4	phospholipid phosphatase 4	gene	DOID:1612	breast cancer		ISO	RGD:1351368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:16818692|REF_RGD_ID:2314524
12130237	PLPP4	phospholipid phosphatase 4	gene	DOID:1909	melanoma		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130237	PLPP4	phospholipid phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:1115	sarcoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:3275	thymoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:4362	cervical cancer		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:5041	esophageal cancer		ISO	RGD:1316236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130247	USP16	ubiquitin specific peptidase 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130280	TMEM218	transmembrane protein 218	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130280	TMEM218	transmembrane protein 218	gene	DOID:0050576	Senior-Loken syndrome		ISO	RGD:1332286	D	RGD:9068941	20220825	MouseDO		OMIM:266900 | OMIM:606995 | OMIM:606996 | OMIM:609254 | OMIM:610189 | OMIM:613615	
12130280	TMEM218	transmembrane protein 218	gene	DOID:0050777	Joubert syndrome		ISO	RGD:2293899	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:33791682
12130280	TMEM218	transmembrane protein 218	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130280	TMEM218	transmembrane protein 218	gene	DOID:0070118	Meckel syndrome 4		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome, type 4	
12130280	TMEM218	transmembrane protein 218	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130280	TMEM218	transmembrane protein 218	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130280	TMEM218	transmembrane protein 218	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130280	TMEM218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:7240710	20211027	OMIM			
12130280	TMEM218	transmembrane protein 218	gene	DOID:9004188	Joubert Syndrome 39		ISO	RGD:2293899	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 39 | ClinVar Annotator: match by term: Joubert syndrome 39	PMID:25741868|PMID:35137054
12130280	TMEM218	transmembrane protein 218	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130280	TMEM218	transmembrane protein 218	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2293899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130291	ACTR10	actin related protein 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130291	ACTR10	actin related protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315176	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130291	ACTR10	actin related protein 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130291	ACTR10	actin related protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130291	ACTR10	actin related protein 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130291	ACTR10	actin related protein 10	gene	DOID:3275	thymoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130291	ACTR10	actin related protein 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12130291	ACTR10	actin related protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12130291	ACTR10	actin related protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315176	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130291	ACTR10	actin related protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130291	ACTR10	actin related protein 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130291	ACTR10	actin related protein 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130291	ACTR10	actin related protein 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315176	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:12306	vitiligo		ISO	RGD:1312328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561518
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:1909	melanoma		ISO	RGD:1312328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:3070	high grade glioma		ISO	RGD:1312328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:640	encephalomyelitis		ISO	RGD:1312329	D	RGD:9068941	20220825	MouseDO			
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130308	IKZF4	IKAROS family zinc finger 4	gene	DOID:986	alopecia areata		ISO	RGD:1312328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20596022
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:1324	lung cancer		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:3070	high grade glioma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130349	GPR180	G protein-coupled receptor 180	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1343809	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:3275	thymoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130362	RBMS3	RNA binding motif single stranded interacting protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130407	WNT6	Wnt family member 6	gene	DOID:0060058	lymphoma		ISO	RGD:1312067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12130407	WNT6	Wnt family member 6	gene	DOID:0080173	bladder exstrophy-epispadias-cloacal exstrophy complex		ISO	RGD:1312067	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BLADDER EXSTROPHY AND EPISPADIAS COMPLEX	
12130407	WNT6	Wnt family member 6	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1312068	D	RGD:9068941	20200609	RGD		Adenomyoepithelioma; mRNA:increased expression:tumor:PLAG-1 transgenic mice	PMID:18649356|REF_RGD_ID:2298845
12130407	WNT6	Wnt family member 6	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1312068	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:9419423|REF_RGD_ID:2298848
12130407	WNT6	Wnt family member 6	gene	DOID:9005233	Experimental Mammary Neoplasms	no_association	ISO	RGD:1312068	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|REF_RGD_ID:2298863
12130407	WNT6	Wnt family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:10534	stomach cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:1115	sarcoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:4362	cervical cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130414	CCDC149	coiled-coil domain containing 149	gene	DOID:9256	colorectal cancer		ISO	RGD:1606995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12130431	APOA4	apolipoprotein A4	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:11555832|REF_RGD_ID:5685680
12130431	APOA4	apolipoprotein A4	gene	DOID:0060180	colitis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		human protein in mouse model	PMID:15254593|REF_RGD_ID:5685667
12130431	APOA4	apolipoprotein A4	gene	DOID:0061121	autosomal dominant tubulointerstitial kidney disease 6		ISO	RGD:737553	D	RGD:7240710	20250305	OMIM			
12130431	APOA4	apolipoprotein A4	gene	DOID:0061121	autosomal dominant tubulointerstitial kidney disease 6		ISO	RGD:737553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOA4-related disorder | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 6	PMID:25741868|PMID:28492532
12130431	APOA4	apolipoprotein A4	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:19379511|REF_RGD_ID:5685691
12130431	APOA4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734420	D	RGD:9068941	20200609	RGD			PMID:21356380|REF_RGD_ID:5685638
12130431	APOA4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:9272683|REF_RGD_ID:5685681
12130431	APOA4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:snp, haplotype:cds:p.S147N (rs5104) (human)	PMID:16013913|REF_RGD_ID:5685661
12130431	APOA4	apolipoprotein A4	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:10559562|REF_RGD_ID:5685682
12130431	APOA4	apolipoprotein A4	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:18343991|REF_RGD_ID:5685658
12130431	APOA4	apolipoprotein A4	gene	DOID:12858	Huntington's disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:21297956|REF_RGD_ID:5147768
12130431	APOA4	apolipoprotein A4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:21569504|REF_RGD_ID:5685637
12130431	APOA4	apolipoprotein A4	gene	DOID:1389	polyneuropathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:19589605|REF_RGD_ID:5685648
12130431	APOA4	apolipoprotein A4	gene	DOID:1470	major depressive disorder		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (rat)	PMID:20580919|REF_RGD_ID:5128563
12130431	APOA4	apolipoprotein A4	gene	DOID:1686	glaucoma		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		Primary Congenital Glaucoma; protein:increased expression:aqueous humor (human)	PMID:21078314|REF_RGD_ID:5685641
12130431	APOA4	apolipoprotein A4	gene	DOID:1936	atherosclerosis		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15822908
12130431	APOA4	apolipoprotein A4	gene	DOID:2355	anemia		ISO	RGD:734420	D	RGD:9068941	20200609	RGD		associated with Inflammation; protein:increased expression:blood plasma (mouse)	PMID:22146476|REF_RGD_ID:5685688
12130431	APOA4	apolipoprotein A4	gene	DOID:2378	relapsing-remitting multiple sclerosis	onset	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid (human)	PMID:19383442|REF_RGD_ID:5685649
12130431	APOA4	apolipoprotein A4	gene	DOID:5327	retinal detachment		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
12130431	APOA4	apolipoprotein A4	gene	DOID:5419	schizophrenia		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25821032
12130431	APOA4	apolipoprotein A4	gene	DOID:5419	schizophrenia		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid (human)	PMID:12836058|REF_RGD_ID:5685679
12130431	APOA4	apolipoprotein A4	gene	DOID:574	peripheral nervous system disease		ISO	RGD:734420	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:2050689|REF_RGD_ID:5685702
12130431	APOA4	apolipoprotein A4	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:mutation:intron:IVS2 (human)	PMID:10428310|REF_RGD_ID:1578442
12130431	APOA4	apolipoprotein A4	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:missense mutation:cds:p.Q360H (human)	PMID:7958503|REF_RGD_ID:5685678
12130431	APOA4	apolipoprotein A4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737553	D	RGD:9068941	20220908	RGD		associated with hepatitis B;	PMID:31211449|REF_RGD_ID:153350082
12130431	APOA4	apolipoprotein A4	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:18061280|REF_RGD_ID:5685659
12130431	APOA4	apolipoprotein A4	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:20367977|REF_RGD_ID:5685646
12130431	APOA4	apolipoprotein A4	gene	DOID:784	chronic kidney disease	disease_progression	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood plasma (human)	PMID:21569504|REF_RGD_ID:5685637
12130431	APOA4	apolipoprotein A4	gene	DOID:8577	ulcerative colitis		ISO	RGD:737553	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
12130431	APOA4	apolipoprotein A4	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Q360H (human)	PMID:17206692|REF_RGD_ID:5685660
12130431	APOA4	apolipoprotein A4	gene	DOID:8778	Crohn's disease	severity	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:17206692|REF_RGD_ID:5685660
12130431	APOA4	apolipoprotein A4	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood plasma (human)	PMID:20367977|REF_RGD_ID:5685646
12130431	APOA4	apolipoprotein A4	gene	DOID:8947	diabetic retinopathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
12130431	APOA4	apolipoprotein A4	gene	DOID:9000528	Coronary Disease	no_association	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T347S (human)	PMID:9013087|REF_RGD_ID:5685683
12130431	APOA4	apolipoprotein A4	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T347S (human)	PMID:12676816|REF_RGD_ID:1578411
12130431	APOA4	apolipoprotein A4	gene	DOID:9001240	Peripheral Nerve Injuries		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:increased expression:sciatic nerve (rat)	PMID:2120218|REF_RGD_ID:2311210
12130431	APOA4	apolipoprotein A4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12130431	APOA4	apolipoprotein A4	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12130431	APOA4	apolipoprotein A4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood serum (rat)	PMID:10892728|REF_RGD_ID:5685694
12130431	APOA4	apolipoprotein A4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas, carcinoma (human)	PMID:16815451|REF_RGD_ID:5685662
12130431	APOA4	apolipoprotein A4	gene	DOID:9005372	Inflammation		ISO	RGD:2132	D	RGD:9068941	20200609	RGD		protein:decreased expression:blood serum (rat)	PMID:10892728|REF_RGD_ID:5685694
12130431	APOA4	apolipoprotein A4	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:737553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
12130431	APOA4	apolipoprotein A4	gene	DOID:9006086	Intervertebral Disc Displacement		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16372267|REF_RGD_ID:5685665
12130431	APOA4	apolipoprotein A4	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:2167514|REF_RGD_ID:5685672
12130431	APOA4	apolipoprotein A4	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood plasma (human)	PMID:226830|REF_RGD_ID:5685673
12130431	APOA4	apolipoprotein A4	gene	DOID:9008103	Seasonal Allergic Rhinitis	resistance	ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:blood serum (human)	PMID:20810159|REF_RGD_ID:5685642
12130431	APOA4	apolipoprotein A4	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:737553	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
12130431	APOA4	apolipoprotein A4	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:737553	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor (human)	PMID:19081814|REF_RGD_ID:5685692
12130438	ICMT	isoprenylcysteine carboxyl methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130438	ICMT	isoprenylcysteine carboxyl methyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130438	ICMT	isoprenylcysteine carboxyl methyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:1603405	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130438	ICMT	isoprenylcysteine carboxyl methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603405	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1347416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283525
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:1551964	D	RGD:9068941	20220825	MouseDO		OMIM:259420	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:0110341	osteogenesis imperfecta type 2		ISO	RGD:1551964	D	RGD:9068941	20220825	MouseDO		OMIM:166210	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1551964	D	RGD:9068941	20220825	MouseDO			
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:1240	leukemia		ISO	RGD:1347416	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18283525
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:619754	D	RGD:9068941	20200609	RGD			PMID:24007266|REF_RGD_ID:9588303
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:619754	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:20448054|REF_RGD_ID:10041059
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:619754	D	RGD:9068941	20200609	RGD			PMID:19088082|REF_RGD_ID:10042965
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:9406	hypopituitarism		ISO	RGD:1551964	D	RGD:9068941	20220825	MouseDO		OMIM:221750 | OMIM:262600 | OMIM:262700 | OMIM:613038 | OMIM:613986	
12130447	SMPD3	sphingomyelin phosphodiesterase 3	gene	DOID:9675	pulmonary emphysema		ISO	RGD:1347416	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:20448054|REF_RGD_ID:10041059
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0050748	marginal zone lymphoma		ISO	RGD:1347575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0050873	follicular lymphoma		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FOLLICULAR LYMPHOMA, SOMATIC	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0050909	extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue		ISO	RGD:1347575	D	RGD:7240710	20180523	OMIM			
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1347575	D	RGD:7240710	20180130	OMIM			
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0080586	Van Maldergem syndrome 2		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Van Maldergem syndrome 2	PMID:25741868
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0111939	immunodeficiency 37		ISO	RGD:1347575	D	RGD:7240710	20180130	OMIM			
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:0111939	immunodeficiency 37		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 37	PMID:17576681|PMID:24033266|PMID:25365219|PMID:25741868|PMID:28492532|PMID:32008135|PMID:9536098
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336|PMID:35658124
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:1520	colon carcinoma		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colon carcinoma	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1347575	D	RGD:7240710	20180130	OMIM			
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MESOTHELIOMA, SOMATIC | ClinVar Annotator: match by term: Mesothelioma, somatic	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:2998	testicular cancer		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Malignant tumor of testis	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:630	genetic disease		ISO	RGD:1347575	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:8541	Sezary's disease		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SEZARY SYNDROME, SOMATIC	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:9003566	Mesothelioma		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347575	D	RGD:7240710	20190315	OMIM			
12130460	BCL10	BCL10 immune signaling adaptor	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347575	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MALE GERM CELL TUMOR, SOMATIC	PMID:25365219|PMID:28492532|PMID:32008135
12130467	INTS7	integrator complex subunit 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:0060058	lymphoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:10534	stomach cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130467	INTS7	integrator complex subunit 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130467	INTS7	integrator complex subunit 7	gene	DOID:1115	sarcoma		ISO	RGD:1604023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:1324	lung cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130467	INTS7	integrator complex subunit 7	gene	DOID:1909	melanoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12130467	INTS7	integrator complex subunit 7	gene	DOID:3070	high grade glioma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130467	INTS7	integrator complex subunit 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12130467	INTS7	integrator complex subunit 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130467	INTS7	integrator complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130467	INTS7	integrator complex subunit 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130467	INTS7	integrator complex subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:3070	high grade glioma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314302	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130491	ZBTB7B	zinc finger and BTB domain containing 7B	gene	DOID:9970	obesity		ISO	RGD:1314302	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
12130501	VRTN	vertebrae development associated	gene	DOID:1909	melanoma		ISO	RGD:1347442	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130507	OR2T6	olfactory receptor family 2 subfamily T member 6	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1343167	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12130510	HM13	histocompatibility minor 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:10534	stomach cancer		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130510	HM13	histocompatibility minor 13	gene	DOID:1115	sarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:1909	melanoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130510	HM13	histocompatibility minor 13	gene	DOID:9002834	Herpesviridae Infections	treatment	ISO	RGD:1319014	D	RGD:9068941	20210115	RGD			PMID:24768597|PMID:31511378|REF_RGD_ID:40903051|REF_RGD_ID:40903053
12130510	HM13	histocompatibility minor 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130510	HM13	histocompatibility minor 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130510	HM13	histocompatibility minor 13	gene	DOID:9452	steatotic liver disease		ISO	RGD:1319014	D	RGD:9068941	20210115	RGD		associated with hepatitis	PMID:27142248|REF_RGD_ID:40924634
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:1909	melanoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1323832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17457363
12130541	AKT1S1	AKT1 substrate 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1323832	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16397181
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:0002116	pterygium		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctiva (human)	PMID:21892527|REF_RGD_ID:6771360
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:0050852	limb ischemia		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21940947|PMID:22369073|REF_RGD_ID:6767285|REF_RGD_ID:6906905
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:0050853	chronic venous insufficiency		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:saphenous vein, venous endothelial cell (human)	PMID:22737245|REF_RGD_ID:6484725
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1349615	D	RGD:9068941	20220811	RGD		protein:decreased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:10923	sickle cell anemia	severity	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:20306667|REF_RGD_ID:11541101
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:1115	sarcoma		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21760628|REF_RGD_ID:6771216
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:11382	corneal neovascularization		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21719569|PMID:22553751|REF_RGD_ID:6771213|REF_RGD_ID:6771229
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:22456311|REF_RGD_ID:6767304
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased tyrosine phosphorylation:conceptus	PMID:10329590|REF_RGD_ID:2311657
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:decreased expression:T cell (human)	PMID:22697005|REF_RGD_ID:6771226
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:decreased expression:levator auris longus, transversus abdominis (mouse)	PMID:22153987|REF_RGD_ID:6767297
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17509538
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:22717029|REF_RGD_ID:6484728
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus (human)	PMID:22331014|REF_RGD_ID:6771318
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10848805
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:1936	atherosclerosis		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:22053073|REF_RGD_ID:6771176
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:1936	atherosclerosis	resistance	ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:17659202|REF_RGD_ID:6771223
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery (human)	PMID:21960570|REF_RGD_ID:6771359
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:224	transient cerebral ischemia		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:22382321|REF_RGD_ID:6766379
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:female gonad (human)	PMID:25502723|REF_RGD_ID:11541094
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:2518	orchitis		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:increased expression:testes, endothelial cells (rat)	PMID:22351899|REF_RGD_ID:6767571
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (human)	PMID:19635508|REF_RGD_ID:5490168
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3068	glioblastoma		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21858729|REF_RGD_ID:6771207
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3192	neurilemmoma	severity	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor (human)	PMID:22555941|REF_RGD_ID:6771228
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28530674
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.N536S, p.G670R (human)	PMID:11795274|REF_RGD_ID:2311656
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' utr:g.53G>A (human)	PMID:12732396|REF_RGD_ID:1581010
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L125V (human)	PMID:10780329|REF_RGD_ID:6771225
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1349615	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:417	autoimmune disease		ISO	RGD:1349615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10848805
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:418	systemic scleroderma		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:decreased expression:superficial vasculature (human)	PMID:20228226|REF_RGD_ID:11541095
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:418	systemic scleroderma		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:decreased expression:superficial vasculature (human)	PMID:20228226|REF_RGD_ID:11541095
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:4248	coronary stenosis		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L125V, p.S563N (human)	PMID:10571959|REF_RGD_ID:1598382
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:blood microparticle (human)	PMID:22465620|REF_RGD_ID:6771231
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.R643G (human)	PMID:15488875|REF_RGD_ID:6771224
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.L125V, p.S563N (human)	PMID:15265022|REF_RGD_ID:1581009
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:5844	myocardial infarction	onset	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :p.N563S, p.G670R (human)	PMID:11795274|REF_RGD_ID:2311656
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:22559233|REF_RGD_ID:10400914
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:680	tauopathy		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, blood vessel (mouse)	PMID:21839061|REF_RGD_ID:6771210
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:769	neuroblastoma		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		human tumor in mouse model	PMID:22174364|REF_RGD_ID:6767296
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:799	varicose veins		ISO	RGD:1349615	D	RGD:9068941	20221110	RGD		mRNA,protein:decreased expression:endothelium:	PMID:26808710|REF_RGD_ID:11529441
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:824	periodontitis		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:gingiva, blood vessels (mouse)	PMID:21979132|REF_RGD_ID:6771178
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:8283	peritonitis	treatment	ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:8113674|REF_RGD_ID:11541096
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:8398	osteoarthritis		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tibia (rat)	PMID:21864409|REF_RGD_ID:6771362
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:853	polymyalgia rheumatica		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, endothelial microparticle (human)	PMID:22211720|REF_RGD_ID:6771319
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:16521495|REF_RGD_ID:11552593
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood (human)	PMID:23772643|REF_RGD_ID:11541098
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:12524254|REF_RGD_ID:724645
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000310	Lung Injury		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased tyrosine phosphorylation:lung (mouse)	PMID:22806890|REF_RGD_ID:6771215
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:22552115|REF_RGD_ID:6484736
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000528	Coronary Disease		ISO	RGD:1349615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Three Vessel Coronary Disease	
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD			PMID:22092840|REF_RGD_ID:6771175
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:22615899|REF_RGD_ID:6771227
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		mRNA:altered expression:jejunum, duodenum, ileum (rat)	PMID:22227376|REF_RGD_ID:6767294
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:22658532|REF_RGD_ID:6484732
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:coronary artery, intima (human)	PMID:22336504|REF_RGD_ID:6767292
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:glomerulus	PMID:15042541|REF_RGD_ID:2311655
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	severity	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:increased expression:B cell (human)	PMID:12673718|REF_RGD_ID:11541127
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21982514|REF_RGD_ID:6771177
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:knee joint, blood vessels (mouse)	PMID:22548760|REF_RGD_ID:6484738
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002457	Experimental Arthritis	severity	ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:14613294|REF_RGD_ID:6771222
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:22101032|REF_RGD_ID:6771356
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002493	Ocular Neovascularization	treatment	ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:20538980|REF_RGD_ID:11541082
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002589	Bone Fractures		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21788831|REF_RGD_ID:6771211
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:22832932|REF_RGD_ID:6771355
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9003204	Neovascularization, Pathologic	treatment	ISO	RGD:62220	D	RGD:9068941	20200609	RGD		Ocular Neovascularization	PMID:20538980|REF_RGD_ID:11541082
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9003871	Venous Thrombosis	susceptibility	ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L125V (human)	PMID:25846278|REF_RGD_ID:11541089
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:12121711|REF_RGD_ID:2311660
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:21872880|REF_RGD_ID:6771206
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:22382321|REF_RGD_ID:6766379
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:myeloid suppressor cell (mouse)	PMID:22451518|REF_RGD_ID:6771205
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD			PMID:10942385|REF_RGD_ID:11541093
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	severity	ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:17234740|REF_RGD_ID:11541120
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:22592748|REF_RGD_ID:6483494
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:decreased expression:corpus callosum, endothelium (rat)	PMID:21967314|REF_RGD_ID:6771179
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD			PMID:22534418|REF_RGD_ID:6771230
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:22119535|REF_RGD_ID:6771174
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:21781312|REF_RGD_ID:6771212
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9006827	Lung Reperfusion Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolar macrophage (rat)	PMID:16449942|REF_RGD_ID:11541083
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:61927	D	RGD:9068941	20200609	RGD			PMID:8989147|REF_RGD_ID:2311662
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD			PMID:22751595|REF_RGD_ID:6771221
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:61927	D	RGD:9068941	20200609	RGD		protein:increased expression:optic nerve (rat)	PMID:22336118|REF_RGD_ID:6767293
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21702037|REF_RGD_ID:6771214
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:62220	D	RGD:9068941	20200609	RGD			PMID:21890879|REF_RGD_ID:6771361
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:62220	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow stem cell (mouse)	PMID:21984919|REF_RGD_ID:6771358
12130565	PECAM1	platelet and endothelial cell adhesion molecule 1	gene	DOID:9643	babesiosis		ISO	RGD:1349615	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (human)	PMID:25539588|REF_RGD_ID:11541121
12130594	EBF3	EBF transcription factor 3	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130594	EBF3	EBF transcription factor 3	gene	DOID:0050591	tooth agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:0050840	cervical dystonia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12130594	EBF3	EBF transcription factor 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1346410	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:0060135	apraxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Apraxia	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:0070309	absence epilepsy		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Absence seizures	
12130594	EBF3	EBF transcription factor 3	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:28017373|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:7240710	20190315	OMIM			
12130594	EBF3	EBF transcription factor 3	gene	DOID:0081176	hypotonia, ataxia, and delayed development syndrome		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EBF3-related condition | ClinVar Annotator: match by term: EBF3-related disorder | ClinVar Annotator: match by term: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME | ClinVar Annotator: match by term: Hypotonia, ataxia, and delayed development syndrome	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:28492532|PMID:29162653|PMID:30577886|PMID:31952901|PMID:32366537|PMID:32581362|PMID:32637629|PMID:33102976|PMID:33956416|PMID:35340043|PMID:35346031|PMID:36937983|PMID:37090941|PMID:38703036
12130594	EBF3	EBF transcription factor 3	gene	DOID:0111428	essential tremor 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:10907	microcephaly		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28017370|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:10908	hydrocephalus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:11111	hydronephrosis		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:28017370|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130594	EBF3	EBF transcription factor 3	gene	DOID:11383	cryptorchidism		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:1143	exotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:11782	astigmatism		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:29162653
12130594	EBF3	EBF transcription factor 3	gene	DOID:11830	myopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28017373|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:12143	neurogenic bladder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:28017373|PMID:32366537
12130594	EBF3	EBF transcription factor 3	gene	DOID:12215	oligohydramnios		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
12130594	EBF3	EBF transcription factor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:13501	Moebius syndrome		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	PMID:25741868|PMID:28017370|PMID:33956416
12130594	EBF3	EBF transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130594	EBF3	EBF transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130594	EBF3	EBF transcription factor 3	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:540	strabismus		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:557	kidney disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:28017373|PMID:32366537
12130594	EBF3	EBF transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130594	EBF3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33956416|PMID:34177436|PMID:35340043|PMID:36937983
12130594	EBF3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:34177436|PMID:36937983
12130594	EBF3	EBF transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19627984|PMID:20300201|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29062322|PMID:29162653|PMID:32637629|PMID:33102976|PMID:34177436|PMID:36937983
12130594	EBF3	EBF transcription factor 3	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:9000495	Tremor		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:9001510	Funnel Chest		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:28017370|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:9001581	Constipation		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9001722	Dysarthria		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
12130594	EBF3	EBF transcription factor 3	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomegaly	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28017370|PMID:31952901
12130594	EBF3	EBF transcription factor 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28017370|PMID:28017373|PMID:28487885|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:9004866	Ataxia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Dyssynergia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:29162653|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:9005077	Joint Instability		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:25741868|PMID:28017370|PMID:28017372|PMID:29162653
12130594	EBF3	EBF transcription factor 3	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyporeflexia	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28017370|PMID:28017372|PMID:33956416|PMID:35340043
12130594	EBF3	EBF transcription factor 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: poor muscle tone	PMID:20876732|PMID:25741868|PMID:28017370|PMID:28017372|PMID:28017373|PMID:28487885|PMID:29162653|PMID:32366537|PMID:7796816
12130594	EBF3	EBF transcription factor 3	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9007114	Mobility Limitation		ISO	RGD:1346410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: walking difficulty	PMID:25741868|PMID:28492532
12130594	EBF3	EBF transcription factor 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28017370|PMID:28017372|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868|PMID:28017370|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28017370|PMID:28017372
12130594	EBF3	EBF transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1346410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	
12130594	EBF3	EBF transcription factor 3	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1346410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28017370|PMID:28487885
12130594	EBF3	EBF transcription factor 3	gene	DOID:9834	hyperopia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28017373|PMID:32637629
12130594	EBF3	EBF transcription factor 3	gene	DOID:9840	esotropia		ISO	RGD:1346410	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:28017370|PMID:28017372
12130614	IL1F10	interleukin 1 family member 10	gene	DOID:10534	stomach cancer		ISO	RGD:1313781	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0060081	triple-negative breast cancer		ISO	RGD:1316162	D	RGD:9068941	20200609	RGD		protein:increased expression:breast:	PMID:21965755|REF_RGD_ID:9684941
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:1316162	D	RGD:9068941	20200609	RGD			PMID:19528090|REF_RGD_ID:9684940
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome		ISO	RGD:1316162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANTXR1-related condition | ClinVar Annotator: match by term: GAPO SYNDROME | ClinVar Annotator: match by term: GAPO syndrome	PMID:23602711|PMID:24033266|PMID:25045128|PMID:25741868|PMID:28492532
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:0112249	GAPO syndrome	susceptibility	ISO	RGD:1316162	D	RGD:7240710	20260805	OMIM			
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:1612	breast cancer	disease_progression	ISO	RGD:1316162	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast:	PMID:17016666|REF_RGD_ID:9684946
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:1909	melanoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:4948	gallbladder carcinoma	severity	ISO	RGD:1316162	D	RGD:9068941	20200609	RGD			PMID:21545221|REF_RGD_ID:9684943
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316162	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:630	genetic disease		ISO	RGD:1316162	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28655553|PMID:29436111|PMID:36413997
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1316163	D	RGD:9068941	20200609	RGD			PMID:20650339|REF_RGD_ID:9684932
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1316162	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental;	PMID:22085271|REF_RGD_ID:9684855
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9004118	Experimental Melanoma		ISO	RGD:1316163	D	RGD:9068941	20200609	RGD			PMID:19622764|REF_RGD_ID:9684925
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1316162	D	RGD:9068941	20200609	RGD			PMID:19609240|REF_RGD_ID:9684939
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:1316162	D	RGD:9068941	20200609	RGD			PMID:22085271|REF_RGD_ID:9684855
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:1316162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemangioma, capillary infantile, susceptibility to	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9008660	Infantile Capillary Hemangioma	susceptibility	ISO	RGD:1316162	D	RGD:7240710	20260805	OMIM			
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130638	ANTXR1	ANTXR cell adhesion molecule 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316162	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood:	PMID:21573768|REF_RGD_ID:9684945
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606532	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130668	CYP20A1	cytochrome P450 family 20 subfamily A member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606532	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130751	Ep300	E1A binding protein p300	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1552027	D	RGD:9068941	20200609	RGD			PMID:18351623|REF_RGD_ID:2312288
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:0050156	idiopathic pulmonary fibrosis	treatment	ISO	RGD:620036	D	RGD:9068941	20220121	RGD			PMID:30119248|REF_RGD_ID:151347411
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:10763	hypertension		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		protein:increased expression:left ventricle (rat)	PMID:18292809|REF_RGD_ID:2312265
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:1115	sarcoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:114	heart disease		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Hypertension; protein:increased expression:heart (rat)	PMID:18697823|REF_RGD_ID:2311717
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:12858	Huntington's disease		ISO	RGD:1552027	D	RGD:9068941	20200609	RGD			PMID:12586550|REF_RGD_ID:13432192
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:1324	lung cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:1574	alcohol use disorder		ISO	RGD:620036	D	RGD:9068941	20231214	RGD		mRNA, protein:decreased expression:amygdala	PMID:29991681|REF_RGD_ID:401938626
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebrum, ipsilateral side (rat)	PMID:22196858|REF_RGD_ID:7349341
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:620036	D	RGD:9068941	20241219	RGD			PMID:28230854|REF_RGD_ID:596933303
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:2920	membranoproliferative glomerulonephritis	treatment	ISO	RGD:620036	D	RGD:9068941	20200609	RGD			PMID:24344329|REF_RGD_ID:9588308
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:24488106|REF_RGD_ID:9588310
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:4362	cervical cancer		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:17083329|REF_RGD_ID:2312274
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:8947	diabetic retinopathy		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21885871|REF_RGD_ID:7349382
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)	PMID:19268536|REF_RGD_ID:2311716
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19268536|REF_RGD_ID:2311716
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620036	D	RGD:9068941	20200609	RGD			PMID:25263804|REF_RGD_ID:9588307
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:heart left ventricle (rat)	PMID:23211718|REF_RGD_ID:7327187
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		retina; protein:altered localization:Hsp70, promoter (rat)	PMID:22143029|REF_RGD_ID:5686888
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004009	Reperfusion Injury	treatment	ISO	RGD:620036	D	RGD:9068941	20200609	RGD		retina	PMID:22143029|REF_RGD_ID:5686888
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004484	Sepsis		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:muscle part of extensor digitorum longus (rat)	PMID:20538901|REF_RGD_ID:7364733
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hippocampus (rat)	PMID:19103185|REF_RGD_ID:2311713
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004974	Painful Neuropathy		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lumbar spinal cord (rat)	PMID:23176208|REF_RGD_ID:7327202
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9004974	Painful Neuropathy	treatment	ISO	RGD:620036	D	RGD:9068941	20200609	RGD			PMID:23176208|REF_RGD_ID:7327202
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620036	D	RGD:9068941	20200609	RGD			PMID:18413674|REF_RGD_ID:2312263
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:18657544|REF_RGD_ID:2312287
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:620036	D	RGD:9068941	20200609	RGD			PMID:22228707|REF_RGD_ID:7296926
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9005930	Endotoxemia		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		associated with Kidney Reperfusion Injury; protein:altered localization:kidney (rat)	PMID:23936185|REF_RGD_ID:7257563
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		protein:altered localization:kidney (rat)	PMID:23936185|REF_RGD_ID:7257563
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9007159	Nervous System Lead Poisoning		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:24291742|REF_RGD_ID:9588309
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:620036	D	RGD:9068941	20200609	RGD		protein:decreased expression:retinal ganglion cell layer (rat)	PMID:21705428|REF_RGD_ID:7349392
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1552027	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601882	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130751	ZC3H7B	zinc finger CCCH-type containing 7B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1552027	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:renal glomerulus (mouse)	PMID:23737551|REF_RGD_ID:7257568
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:10534	stomach cancer		ISO	RGD:1314644	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:3275	thymoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1314644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:6039	uveal melanoma		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12130778	CDK15	cyclin dependent kinase 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130796	TM4SF5	transmembrane 4 L six family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1318639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130796	TM4SF5	transmembrane 4 L six family member 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12130796	TM4SF5	transmembrane 4 L six family member 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1318639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130805	TNC	tenascin C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12130805	TNC	tenascin C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130805	TNC	tenascin C	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:15565633|REF_RGD_ID:4889614
12130805	TNC	tenascin C	gene	DOID:0110581	autosomal dominant nonsyndromic deafness 56		ISO	RGD:1354144	D	RGD:7240710	20180130	OMIM			
12130805	TNC	tenascin C	gene	DOID:0110581	autosomal dominant nonsyndromic deafness 56		ISO	RGD:1354144	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 56 | ClinVar Annotator: match by term: Deafness, autosomal dominant 56 | ClinVar Annotator: match by term: TNC-related condition	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29531218|PMID:31190668|PMID:36597107
12130805	TNC	tenascin C	gene	DOID:10320	asbestosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
12130805	TNC	tenascin C	gene	DOID:10534	stomach cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130805	TNC	tenascin C	gene	DOID:106	pleural tuberculosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
12130805	TNC	tenascin C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130805	TNC	tenascin C	gene	DOID:1115	sarcoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12130805	TNC	tenascin C	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		DNA:SNPs, missense mutations, haplotypes:cds, intron:multiple	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:11830	myopia		ISO	RGD:1354144	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12130805	TNC	tenascin C	gene	DOID:13100	intracranial vasospasm		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		associated with Subarachnoid Hemorrhage;protein:increased expression:serum	PMID:19589197|REF_RGD_ID:4889600
12130805	TNC	tenascin C	gene	DOID:1324	lung cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130805	TNC	tenascin C	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9780295|REF_RGD_ID:4889595
12130805	TNC	tenascin C	gene	DOID:1532	pleural disease		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10950882
12130805	TNC	tenascin C	gene	DOID:1612	breast cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12130805	TNC	tenascin C	gene	DOID:1909	melanoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130805	TNC	tenascin C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130805	TNC	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16115819
12130805	TNC	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:p.L1677I (human)	PMID:16115819|REF_RGD_ID:4889569
12130805	TNC	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1354144	D	RGD:9068941	20260312	RGD		protein:increased expression:bronchus basement membrane	PMID:18305139|PMID:9310019|REF_RGD_ID:4889572|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:2841	asthma		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD			PMID:17125141|REF_RGD_ID:4889565
12130805	TNC	tenascin C	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNPs: :multiple	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:289	endometriosis		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12130805	TNC	tenascin C	gene	DOID:3068	glioblastoma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16928692|REF_RGD_ID:4889612
12130805	TNC	tenascin C	gene	DOID:3070	high grade glioma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130805	TNC	tenascin C	gene	DOID:3275	thymoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130805	TNC	tenascin C	gene	DOID:3798	pleural empyema		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:pleura	PMID:10950882|REF_RGD_ID:4889594
12130805	TNC	tenascin C	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12130805	TNC	tenascin C	gene	DOID:4362	cervical cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130805	TNC	tenascin C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12130805	TNC	tenascin C	gene	DOID:4947	cholangiocarcinoma	severity	ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:20816680|REF_RGD_ID:4889598
12130805	TNC	tenascin C	gene	DOID:5041	esophageal cancer		ISO	RGD:1354144	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12130805	TNC	tenascin C	gene	DOID:552	pneumonia		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, respiratory system fluid/secretion	PMID:19721293|REF_RGD_ID:4889573
12130805	TNC	tenascin C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130805	TNC	tenascin C	gene	DOID:5844	myocardial infarction		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, fibroblast	PMID:11454990|REF_RGD_ID:4889618
12130805	TNC	tenascin C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12130805	TNC	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16782755|REF_RGD_ID:4889567
12130805	TNC	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20528622|REF_RGD_ID:4889562
12130805	TNC	tenascin C	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:15879421|REF_RGD_ID:4889570
12130805	TNC	tenascin C	gene	DOID:6432	pulmonary hypertension	severity	ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:19288153|REF_RGD_ID:4889564
12130805	TNC	tenascin C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130805	TNC	tenascin C	gene	DOID:799	varicose veins		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17643059
12130805	TNC	tenascin C	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:9780295|REF_RGD_ID:4889595
12130805	TNC	tenascin C	gene	DOID:850	lung disease		ISO	RGD:10271	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:16690978|REF_RGD_ID:4889568
12130805	TNC	tenascin C	gene	DOID:850	lung disease		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20833777|REF_RGD_ID:4889561
12130805	TNC	tenascin C	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:11085900|REF_RGD_ID:4889619
12130805	TNC	tenascin C	gene	DOID:9000252	Allergic Rhinoconjunctivitis		ISO	RGD:1354144	D	RGD:9068941	20260305	RGD		DNA:SNPs, missense mutations, haplotypes:cds, intron:multiple	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:9000252	Allergic Rhinoconjunctivitis	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNP: :rs12347433	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:9000310	Lung Injury		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978301
12130805	TNC	tenascin C	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621057	D	RGD:9068941	20200609	RGD		protein:increased expression:basilar artery	PMID:19589197|REF_RGD_ID:4889600
12130805	TNC	tenascin C	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Renal Cell;protein:increased expression:lung	PMID:16928692|REF_RGD_ID:4889612
12130805	TNC	tenascin C	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal cavity epithelium	PMID:12916355|REF_RGD_ID:4889591
12130805	TNC	tenascin C	gene	DOID:9003566	Mesothelioma		ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:16928692|REF_RGD_ID:4889612
12130805	TNC	tenascin C	gene	DOID:9003566	Mesothelioma	disease_progression	ISO	RGD:1354144	D	RGD:9068941	20200609	RGD			PMID:12605648|REF_RGD_ID:4889571
12130805	TNC	tenascin C	gene	DOID:9004538	Hearing Loss		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:23936043|PMID:25741868|PMID:30311386
12130805	TNC	tenascin C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Prostate Cancer	PMID:25741868
12130805	TNC	tenascin C	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:17999372|REF_RGD_ID:4889609
12130805	TNC	tenascin C	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1354144	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12130805	TNC	tenascin C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130805	TNC	tenascin C	gene	DOID:9007480	Hyperoxia		ISO	RGD:1615156	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:17001473|REF_RGD_ID:4889566
12130805	TNC	tenascin C	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:621057	D	RGD:9068941	20200609	RGD			PMID:20554738|REF_RGD_ID:4889599
12130805	TNC	tenascin C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130805	TNC	tenascin C	gene	DOID:9415	allergic asthma		ISO	RGD:1354144	D	RGD:9068941	20260326	RGD		DNA:SNP, haplotype:intron:rs2297181	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:9415	allergic asthma	susceptibility	ISO	RGD:1347629	D	RGD:9068941	20260326	RGD		DNA:SNP:missense mutation:rs2104772	PMID:18305139|REF_RGD_ID:4889589
12130805	TNC	tenascin C	gene	DOID:9849	Meniere's disease		ISO	RGD:1354144	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:1909	melanoma		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:9004103	Lymphatic Malformation 11		ISO	RGD:1346429	D	RGD:7240710	20210707	OMIM			
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:9004103	Lymphatic Malformation 11		ISO	RGD:1346429	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LYMPHATIC MALFORMATION 11 | ClinVar Annotator: match by term: Lymphatic malformation 11 | ClinVar Annotator: match by term: TIE1-related condition	PMID:25741868
12130863	TIE1	tyrosine kinase with immunoglobulin like and EGF like domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:11162	respiratory failure		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:11830	myopia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:12849	autistic disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:1324	lung cancer		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:1596	depressive disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:736900	D	RGD:9068941	20200609	RGD		esophageal squamous cell carcinoma, OMIM:133239	PMID:10097140|REF_RGD_ID:1600104
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:1909	melanoma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:2841	asthma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:3459	breast carcinoma		ISO	RGD:736900	D	RGD:9068941	20220421	RGD		mRNA, protein:decreased exoression:breast, tumor (human)	PMID:18686028|REF_RGD_ID:151893465
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736900	D	RGD:7240710	20240207	OMIM			
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:736900	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC | ClinVar Annotator: match by term: LZTS1-related condition	PMID:25741868|PMID:26504261|PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:4362	cervical cancer		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:480	movement disease		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736900	D	RGD:9068941	20240208	RGD		esophageal squamous cell carcinoma, OMIM:133239	PMID:10097140|REF_RGD_ID:1600104
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:736900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9001733	Tinnitus		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736900	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12377406
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9007736	Vertigo		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9008023	Memory Disorders		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9008421	Epistaxis		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12130894	LZTS1	leucine zipper tumor suppressor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736900	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12130905	MED18	mediator complex subunit 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1347067	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130905	MED18	mediator complex subunit 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347067	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130914	MYH2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:7240710	20191002	OMIM			
12130914	MYH2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inclusion Body Myopathy, Dominant | ClinVar Annotator: match by term: Inclusion body myopathy autosomal dominant | ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia	PMID:11114175|PMID:11889243|PMID:15548556|PMID:15741996|PMID:16130113|PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:20418530|PMID:22349865|PMID:22406018|PMID:23388406|PMID:23489661|PMID:24033266|PMID:24193343|PMID:24948216|PMID:25399751|PMID:25617006|PMID:25640679|PMID:25741868|PMID:26467025|PMID:27066573|PMID:28492532|PMID:29934118|PMID:31127727|PMID:31321302|PMID:31407473|PMID:32578970|PMID:33250842|PMID:34459418|PMID:35239206|PMID:36774715|PMID:9536098
12130914	MYH2	myosin heavy chain 2	gene	DOID:0080719	congenital myopathy 6		ISO	RGD:1347033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, proximal, and ophthalmoplegia	PMID:16199547|PMID:20418530|PMID:23388406|PMID:24193343|PMID:25640679|PMID:25741868|PMID:28492532
12130914	MYH2	myosin heavy chain 2	gene	DOID:3429	inclusion body myositis		ISO	RGD:1347033	D	RGD:9068941	20230615	RGD		IBM3, OMIM:605637, DNA:point mutation:exon:E706K	PMID:11114175|REF_RGD_ID:1600532
12130914	MYH2	myosin heavy chain 2	gene	DOID:630	genetic disease		ISO	RGD:1347033	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34459418
12130964	ZNF783	zinc finger protein 783	gene	DOID:10534	stomach cancer		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12130964	ZNF783	zinc finger protein 783	gene	DOID:11054	urinary bladder cancer		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130964	ZNF783	zinc finger protein 783	gene	DOID:3275	thymoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12130964	ZNF783	zinc finger protein 783	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12130964	ZNF783	zinc finger protein 783	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130964	ZNF783	zinc finger protein 783	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12130964	ZNF783	zinc finger protein 783	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12130964	ZNF783	zinc finger protein 783	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:4140607	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12130978	H2BC14	H2B clustered histone 14	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1346747	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316105	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:1324	lung cancer		ISO	RGD:1316105	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:3070	high grade glioma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316105	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12130984	PWWP2B	PWWP domain containing 2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:15364249|PMID:16969763|PMID:17576681|PMID:22888088|PMID:25741868|PMID:28492532|PMID:28559085|PMID:31054281|PMID:33576794|PMID:35432464|PMID:36445968|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0050534	congenital stationary night blindness		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital stationary night blindness	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:11992260|PMID:14564670|PMID:15364249|PMID:16055928|PMID:16969763|PMID:17576681|PMID:22264887|PMID:22888088|PMID:23372056|PMID:25741868|PMID:26093275|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30718709|PMID:31054281|PMID:31953110|PMID:32702353|PMID:33090715|PMID:33576794|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36445968|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0050795	cone dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:11875055|PMID:22264887|PMID:25741868|PMID:28492532|PMID:29785639
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0110413	retinitis pigmentosa 6		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 6	PMID:25741868
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		IAGP		D	RGD:12801476	20251105	OMIA		Retinal atrophy, progressive, X-linked, type 1	PMID:7977457|PMID:10586956|PMID:10699176|PMID:17653054|PMID:11978759|PMID:17320077|PMID:17646274|PMID:12011183|PMID:11581184|PMID:22065099|PMID:10675623|PMID:22308428|PMID:27122963|PMID:27398221|PMID:7366567|PMID:32176262|PMID:32189222|PMID:19255154|PMID:24599007|PMID:37188525|PMID:38028226|PMID:39739008|PMID:39294136|PMID:38334230|PMID:39934341|PMID:40461693|PMID:41106454
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		IAGP		D	RGD:12801476	20260218	OMIA		Retinal atrophy, progressive, X-linked, type 2	PMID:11978759|PMID:20574030|PMID:16565408|PMID:17646274|PMID:22065099|PMID:22308428|PMID:24367709|PMID:24581223|PMID:29263354|PMID:31910043|PMID:32176262|PMID:32189222|PMID:32414297|PMID:19255154|PMID:24599007|PMID:26460017|PMID:28566226|PMID:33432105|PMID:34954206|PMID:37188525|PMID:38168165|PMID:38241039|PMID:39739008|PMID:38334230|PMID:39934341|PMID:40405464|PMID:41649227
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:7240710	20211006	OMIM			
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN | ClinVar Annotator: match by term: Choroidoretinal degeneration with retinal reflex in heterozygous women | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 3 | ClinVar Annotator: match by term: Retinitis pigmentosa 3	PMID:10932196|PMID:10937588|PMID:11754050|PMID:11992260|PMID:12657579|PMID:14564670|PMID:15364249|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17576681|PMID:17923551|PMID:19429592|PMID:19815619|PMID:20631154|PMID:21326217|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:24033266|PMID:25356976|PMID:25741868|PMID:25741869|PMID:26093275|PMID:26143542|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:30543658|PMID:31054281|PMID:31645972|PMID:31953110|PMID:31960602|PMID:32036094|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34985506|PMID:35166581|PMID:35432464|PMID:36259723|PMID:36276946|PMID:36284670|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36996441|PMID:37107692|PMID:38117582|PMID:9326322|PMID:9399904|PMID:9536098|PMID:9855162
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:7240710	20211006	OMIM			
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY, X-LINKED, 1 | ClinVar Annotator: match by term: X-LINKED ROD CONE DYSTROPHY | ClinVar Annotator: match by term: X-linked cone-rod dystrophy 1	PMID:10932196|PMID:11754050|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:26093275|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36882936|PMID:36996441
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:7240710	20211006	OMIM			
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0112124	X-linked retinitis pigmentosa and sinorespiratory infections		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441|PMID:8673101
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:7240710	20211006	OMIM			
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:0112157	X-linked atrophic macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MACULAR DEGENERATION, ATROPHIC, X-LINKED | ClinVar Annotator: match by term: Macular degeneration, X-linked atrophic	PMID:10932196|PMID:11754050|PMID:12160730|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:24033266|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10485	esophageal atresia		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:20861475|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11992260|PMID:16055928|PMID:16969763|PMID:17480003|PMID:23372056|PMID:25741868|PMID:26143542|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12657579|PMID:16055928|PMID:16969763|PMID:17195164|PMID:17480003|PMID:23150612|PMID:23372056|PMID:25741868|PMID:26143542|PMID:27236918|PMID:28041643|PMID:28492532|PMID:30718709|PMID:30917587|PMID:31645972|PMID:32531858|PMID:32679846|PMID:8817343
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:8673101|PMID:8817343|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:8673101|PMID:8817343|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:34906470|PMID:34985506|PMID:36909829|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10482958|PMID:10932196|PMID:10970770|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14691151|PMID:16055928|PMID:16199547|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17480003|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19893586|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23681342|PMID:25741868|PMID:26143542|PMID:26261414|PMID:27620828|PMID:27995965|PMID:28041643|PMID:28322733|PMID:28492532|PMID:288634|PMID:28863407|PMID:29276052|PMID:30029497|PMID:30193314|PMID:30289068|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:31456290|PMID:31645972|PMID:31804667|PMID:31953110|PMID:32036094|PMID:3214136|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:35806195|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:7611300|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10482958|PMID:10932196|PMID:11754050|PMID:11992260|PMID:12402343|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18552978|PMID:20861475|PMID:22264887|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:25741868|PMID:26261414|PMID:27620828|PMID:28322733|PMID:28492532|PMID:28863407|PMID:29276052|PMID:30622176|PMID:30718709|PMID:31456290|PMID:31953110|PMID:32036094|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34906470|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36909829|PMID:36996441|PMID:8673101|PMID:8817343|PMID:9536098
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:12336	male infertility		ISO	RGD:1557212	D	RGD:9068941	20211008	RGD			PMID:18579752|REF_RGD_ID:8553213
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1352855	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:14791	Leber congenital amaurosis	treatment	ISO	RGD:1557212	D	RGD:9068941	20211008	RGD			PMID:20384479|REF_RGD_ID:8553217
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:1909	melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:3275	thymoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:4448	macular degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:5679	retinal disease		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10480356|PMID:10932196|PMID:16055928|PMID:16969763|PMID:25741868|PMID:28492532|PMID:31953110|PMID:8673101
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:5723	optic atrophy		ISO	RGD:1352855	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:8501	fundus dystrophy		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:11180598|PMID:11754050|PMID:11992260|PMID:12402343|PMID:12657579|PMID:14564670|PMID:14691151|PMID:15364249|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:18332319|PMID:18552978|PMID:19815619|PMID:20631154|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23681342|PMID:24033266|PMID:25283059|PMID:25352739|PMID:25356976|PMID:2552515|PMID:25741868|PMID:26197217|PMID:26747767|PMID:26766544|PMID:26872967|PMID:27620828|PMID:27995965|PMID:28322733|PMID:28492532|PMID:28559085|PMID:288634|PMID:28863407|PMID:28912962|PMID:29528978|PMID:29721948|PMID:30193314|PMID:30313097|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31213501|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31816670|PMID:31953110|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32100970|PMID:3214136|PMID:3253185|PMID:32531858|PMID:32702353|PMID:32788070|PMID:32795431|PMID:33090715|PMID:33355362|PMID:33467000|PMID:33576794|PMID:33620278|PMID:34448047|PMID:34745198|PMID:34828430|PMID:34906470|PMID:349855|PMID:34985506|PMID:35432464|PMID:3580619|PMID:35806195|PMID:36276946|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36819107|PMID:36882936|PMID:36996441|PMID:38219857|PMID:38576124|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10932196|PMID:11754050|PMID:17195164|PMID:22264887|PMID:23150612|PMID:23372056|PMID:25741868|PMID:27620828|PMID:28492532|PMID:31953110|PMID:32036094|PMID:33090715|PMID:33355362|PMID:33620278|PMID:34745198|PMID:34985506|PMID:35432464|PMID:36276946|PMID:36460718|PMID:36996441
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1352855	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10946359|PMID:11180598|PMID:11754050|PMID:11793468|PMID:11857109|PMID:11875055|PMID:11992260|PMID:12160730|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:15734019|PMID:16055928|PMID:16199547|PMID:16387007|PMID:16786505|PMID:16936086|PMID:16969763|PMID:17195164|PMID:17405150|PMID:17480003|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18332319|PMID:18487280|PMID:18552978|PMID:19138872|PMID:19218993|PMID:19475717|PMID:19783189|PMID:19815619|PMID:20631154|PMID:20861475|PMID:21326217|PMID:21857984|PMID:21866333|PMID:22264887|PMID:22382802|PMID:22494545|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25097241|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26261414|PMID:26747767|PMID:26766544|PMID:27620828|PMID:27768226|PMID:28041643|PMID:28127548|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:28912962|PMID:29276052|PMID:29453956|PMID:29528978|PMID:29555955|PMID:29641573|PMID:29721948|PMID:29785639|PMID:30029497|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30718709|PMID:30902645|PMID:30917587|PMID:30924848|PMID:31054281|PMID:31087526|PMID:31456290|PMID:31630094|PMID:31645972|PMID:31804667|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32037395|PMID:32531858|PMID:32679846|PMID:32702353|PMID:32788070|PMID:32856788|PMID:33090715|PMID:33355362|PMID:33546218|PMID:33576794|PMID:34906470|PMID:34946927|PMID:35892439|PMID:8673101|PMID:8817343|PMID:9326322|PMID:9331262|PMID:9399904|PMID:9536098|PMID:9855162|PMID:9990021
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9004538	Hearing Loss		ISO	RGD:1352855	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:1352855	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:12920075
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352855	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9256	colorectal cancer		ISO	RGD:1352855	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24	PMID:24033266|PMID:25741868|PMID:28492532
12131007	RPGR	retinitis pigmentosa GTPase regulator	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1352855	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:10480356|PMID:10482958|PMID:10737996|PMID:10932196|PMID:10937588|PMID:10980543|PMID:11180598|PMID:11754050|PMID:11857109|PMID:11968081|PMID:11992260|PMID:12402343|PMID:12657579|PMID:12859409|PMID:14564670|PMID:14691151|PMID:15364249|PMID:16055928|PMID:16199547|PMID:16969763|PMID:17195164|PMID:17576681|PMID:17724181|PMID:17898302|PMID:18552978|PMID:19218993|PMID:19815619|PMID:20591486|PMID:20631154|PMID:20861475|PMID:21857984|PMID:22264887|PMID:22888088|PMID:23150612|PMID:23213406|PMID:23372056|PMID:23443027|PMID:23591405|PMID:23681342|PMID:23847139|PMID:23950152|PMID:24033266|PMID:25283059|PMID:25356976|PMID:25640679|PMID:25741868|PMID:26093275|PMID:26747767|PMID:26766544|PMID:27162334|PMID:27620828|PMID:27768226|PMID:27995965|PMID:28041643|PMID:28127548|PMID:28157192|PMID:28322733|PMID:28492532|PMID:28559085|PMID:28863407|PMID:29555955|PMID:29641573|PMID:30067075|PMID:30105367|PMID:30193314|PMID:30337596|PMID:30543658|PMID:30622176|PMID:30902645|PMID:31054281|PMID:31456290|PMID:31645972|PMID:31652454|PMID:31953110|PMID:31960602|PMID:32000842|PMID:32036094|PMID:32037395|PMID:32326409|PMID:32531858|PMID:32679846|PMID:32702353|PMID:33090715|PMID:33247286|PMID:33355362|PMID:33467000|PMID:33546218|PMID:33576794|PMID:33620278|PMID:34745198|PMID:34828430|PMID:34906470|PMID:34946927|PMID:34985506|PMID:35119454|PMID:35432464|PMID:35806195|PMID:35836572|PMID:35892439|PMID:36276946|PMID:36445968|PMID:3646071|PMID:36460718|PMID:36464167|PMID:36819107|PMID:36996441|PMID:37217489|PMID:37854381|PMID:38219857|PMID:8673101|PMID:8817343|PMID:9399904|PMID:9536098|PMID:9855162
12131028	ANKRD53	ankyrin repeat domain 53	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131028	ANKRD53	ankyrin repeat domain 53	gene	DOID:1324	lung cancer		ISO	RGD:1605329	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131028	ANKRD53	ankyrin repeat domain 53	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131028	ANKRD53	ankyrin repeat domain 53	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131028	ANKRD53	ankyrin repeat domain 53	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:2394	ovarian cancer		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:3275	thymoma		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:5041	esophageal cancer		ISO	RGD:1606759	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131038	GARIN1B	golgi associated RAB2 interactor 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606759	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:0060058	lymphoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131070	AGBL3	AGBL carboxypeptidase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131096	UBXN8	UBX domain protein 8	gene	DOID:1115	sarcoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131096	UBXN8	UBX domain protein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603319	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131096	UBXN8	UBX domain protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131096	UBXN8	UBX domain protein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1603319	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131096	UBXN8	UBX domain protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131096	UBXN8	UBX domain protein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131096	UBXN8	UBX domain protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131096	UBXN8	UBX domain protein 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1603319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0080653	urolithiasis		ISO	RGD:68383	D	RGD:9068941	20200609	RGD		protein:increased activity:kidney:	PMID:9471053|REF_RGD_ID:11040514
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0080653	urolithiasis		ISO	RGD:68554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9471053
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0111900	autosomal dominant thrombophilia due to protein S deficiency		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reduced protein S activity	PMID:25741868
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1		ISO	RGD:68554	D	RGD:7240710	20180130	OMIM			
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:0112173	combined deficiency of vitamin K-dependent clotting factors 1		ISO	RGD:68554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GGCX - Related Disorders | ClinVar Annotator: match by term: GGCX-related condition | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 | ClinVar Annotator: match by term: VITAMIN K-DEPENDENT COAGULATION DEFECT	PMID:15287948|PMID:16905958|PMID:17110937|PMID:17327402|PMID:18800149|PMID:24520408|PMID:25151188|PMID:25741868|PMID:27394683|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:10534	stomach cancer		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:1059	intellectual disability		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:1115	sarcoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:11249	vitamin K deficiency bleeding	no_association	ISO	RGD:68554	D	RGD:9068941	20200609	RGD			PMID:11154138|REF_RGD_ID:11040513
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:11294	arteriovenous malformation		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:11830	myopia		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:1247	blood coagulation disease		ISO	RGD:68554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19141161
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:12849	autistic disorder		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:1324	lung cancer		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:1826	epilepsy		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:2030	anxiety disorder		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:2213	hemorrhagic disease		ISO	RGD:68554	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:32935436
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:3144	cutis laxa		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:3275	thymoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:3393	coronary artery disease		ISO	RGD:68554	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:3755	antithrombin III deficiency		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary antithrombin deficiency	PMID:25741868
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:4362	cervical cancer		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:5041	esophageal cancer		ISO	RGD:68554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:630	genetic disease		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:17110937|PMID:17327402|PMID:24520408|PMID:28492532
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9001239	Delayed Puberty		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9001510	Funnel Chest		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9002557	Inherited Blood Coagulation Disease		ISO	RGD:68554	D	RGD:9068941	20200609	RGD		mutation:  L394R	PMID:9845520|REF_RGD_ID:1598791
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9003245	Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency		ISO	RGD:68554	D	RGD:7240710	20180130	OMIM			
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9003245	Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PXE-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY | ClinVar Annotator: match by term: Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9004931	Coagulation Protein Disorders		ISO	RGD:68554	D	RGD:9068941	20200609	RGD		mutation:  L394R	PMID:9845520|REF_RGD_ID:1598791
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9005077	Joint Instability		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9006363	Congenital Thrombotic Disease, due to Protein C Deficiency		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reduced protein C activity	PMID:25741868
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9007075	Congenital Prothrombin Deficiency		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged prothrombin time	PMID:25741868
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9007661	Dwarfism		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9008023	Memory Disorders		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:31727138
12131121	GGCX	gamma-glutamyl carboxylase	gene	DOID:9834	hyperopia		ISO	RGD:68554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:18800149|PMID:25741868|PMID:28125048|PMID:28492532|PMID:33000479|PMID:33507293|PMID:34816548|PMID:34906475
12131147	CRBN	cereblon	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1551562	D	RGD:9068941	20220825	MouseDO		OMIM:249500 | OMIM:607417 | OMIM:608443 | OMIM:611090 | OMIM:611091 | OMIM:611092 | OMIM:611093 | OMIM:611095 | OMIM:611096 | OMIM:611097 | OMIM:611107 | OMIM:614020 | OMIM:614208 | OMIM:614249 | OMIM:614329 | OMIM:614333 | OMIM:614340 | OMIM:614341 | OMIM:614342 | OMIM:614343 | OMIM:614344 | OMIM:614345 | OMIM:614346 | OMIM:614347 | OMIM:614499 | OMIM:615493 | OMIM:615516 | OMIM:615541 | OMIM:615599 | OMIM:615637 | OMIM:615802 | OMIM:615817 | OMIM:615942	
12131147	CRBN	cereblon	gene	DOID:0081178	autosomal recessive intellectual developmental disorder 2		ISO	RGD:1321492	D	RGD:7240710	20180130	OMIM			
12131147	CRBN	cereblon	gene	DOID:0081178	autosomal recessive intellectual developmental disorder 2		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 2	PMID:25741868
12131147	CRBN	cereblon	gene	DOID:10534	stomach cancer		ISO	RGD:1321492	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131147	CRBN	cereblon	gene	DOID:4362	cervical cancer		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131147	CRBN	cereblon	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12131147	CRBN	cereblon	gene	DOID:5041	esophageal cancer		ISO	RGD:1321492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131147	CRBN	cereblon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131147	CRBN	cereblon	gene	DOID:630	genetic disease		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12131147	CRBN	cereblon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131147	CRBN	cereblon	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27751757
12131147	CRBN	cereblon	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:1321492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27751757
12131147	CRBN	cereblon	gene	DOID:9256	colorectal cancer		ISO	RGD:1321492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	
12131147	CRBN	cereblon	gene	DOID:9538	multiple myeloma		ISO	RGD:1321492	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:26186254
12131170	PRSS55	serine protease 55	gene	DOID:5041	esophageal cancer		ISO	RGD:1603165	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:1909	melanoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:3275	thymoma		ISO	RGD:1314108	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:4362	cervical cancer		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131191	RASGEF1A	RasGEF domain family member 1A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131216	ZNF106	zinc finger protein 106	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:10534	stomach cancer		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131216	ZNF106	zinc finger protein 106	gene	DOID:1115	sarcoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:1324	lung cancer		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131216	ZNF106	zinc finger protein 106	gene	DOID:1909	melanoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:3275	thymoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:6039	uveal melanoma		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12131216	ZNF106	zinc finger protein 106	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131216	ZNF106	zinc finger protein 106	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:0060479	Shwachman-Diamond syndrome		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shwachman-Diamond Syndrome | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:35739278
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:1115	sarcoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:12450	pancytopenia		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:1324	lung cancer		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:3275	thymoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:4362	cervical cancer		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:5041	esophageal cancer		ISO	RGD:734039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:6039	uveal melanoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:630	genetic disease		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:720	normocytic anemia		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:25741868
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9001510	Funnel Chest		ISO	RGD:734039	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9004906	Congenital Bone Marrow Failure Syndromes		ISO	RGD:734039	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited bone marrow failure syndrome	PMID:27346687|PMID:28062395|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9005307	Bone Marrow Failure Syndrome 3		ISO	RGD:734039	D	RGD:7240710	20190315	OMIM			
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9005307	Bone Marrow Failure Syndrome 3		ISO	RGD:734039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 3 | ClinVar Annotator: match by term: Bone marrow failure syndrome 3 | ClinVar Annotator: match by term: DNAJC21-related condition	PMID:16199547|PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30198570|PMID:30755392|PMID:35739278
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9007661	Dwarfism		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:27346687|PMID:28062395|PMID:28492532|PMID:30755392
12131244	DNAJC21	DnaJ heat shock protein family (Hsp40) member C21	gene	DOID:9256	colorectal cancer		ISO	RGD:734039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0050581	brachydactyly		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30892814|PMID:37091313
12131269	CREBBP	CREB binding protein	gene	DOID:0050847	sleep apnea		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
12131269	CREBBP	CREB binding protein	gene	DOID:0050873	follicular lymphoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24362818
12131269	CREBBP	CREB binding protein	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:619553	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
12131269	CREBBP	CREB binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:619553	D	RGD:9068941	20220825	MouseDO			
12131269	CREBBP	CREB binding protein	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12131269	CREBBP	CREB binding protein	gene	DOID:0060249	scoliosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:0060260	ptosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0060604	ankyloglossia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:0070210	hereditary lymphedema IA		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Edema of the dorsum of feet	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0070309	absence epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	
12131269	CREBBP	CREB binding protein	gene	DOID:0080016	spina bifida		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:619552	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12131269	CREBBP	CREB binding protein	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0080702	medulloblastoma WNT activated		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma WNT activated	PMID:22722829|PMID:24710217|PMID:26956253|PMID:27993330|PMID:28726821
12131269	CREBBP	CREB binding protein	gene	DOID:0080703	medulloblastoma SHH activated		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma SHH activated	PMID:27993330
12131269	CREBBP	CREB binding protein	gene	DOID:0080706	medulloblastoma non-WNT/non-SHH		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Medulloblastoma non-WNT/non-SHH	PMID:22722829|PMID:24710217|PMID:27993330|PMID:28726821|PMID:33741928
12131269	CREBBP	CREB binding protein	gene	DOID:0081286	embryonal tumor with multilayered rosettes		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Embryonal tumor with multilayered rosettes	PMID:27993330
12131269	CREBBP	CREB binding protein	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:0110214	cleft soft palate		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:619552	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12131269	CREBBP	CREB binding protein	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:0111568	congenital vertical talus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital vertical talus	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:10348	blepharophimosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868|PMID:26559152|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131269	CREBBP	CREB binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:35904974|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Profound intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:16199547|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:32827181|PMID:34652060|PMID:37091313|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:10591	pre-eclampsia		ISO	RGD:619552	D	RGD:9068941	20220915	RGD		mRNA:decreased expression:placenta (human)	PMID:33625689|REF_RGD_ID:153350159
12131269	CREBBP	CREB binding protein	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:21149712|REF_RGD_ID:10059608
12131269	CREBBP	CREB binding protein	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:hippocampus:	PMID:17760871|REF_RGD_ID:10059609
12131269	CREBBP	CREB binding protein	gene	DOID:10907	microcephaly		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:16757948|PMID:17352659|PMID:18414213|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30892814|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:10908	hydrocephalus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
12131269	CREBBP	CREB binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:16359492|PMID:17052327|PMID:18414213|PMID:18792986|PMID:25388907|PMID:25741868|PMID:28492532|PMID:28970362|PMID:35101336
12131269	CREBBP	CREB binding protein	gene	DOID:11111	hydronephrosis		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:16757948|PMID:17352659|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:1115	sarcoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131269	CREBBP	CREB binding protein	gene	DOID:11162	respiratory failure		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:11193	syndactyly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:11383	cryptorchidism		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:1143	exotropia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:1148	polydactyly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:11830	myopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12131269	CREBBP	CREB binding protein	gene	DOID:12449	aplastic anemia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplastic anemia	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:12858	Huntington's disease		ISO	RGD:619552	D	RGD:9068941	20200609	RGD			PMID:11264541|REF_RGD_ID:13432093
12131269	CREBBP	CREB binding protein	gene	DOID:12858	Huntington's disease		ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:11264541|REF_RGD_ID:13432093
12131269	CREBBP	CREB binding protein	gene	DOID:12858	Huntington's disease	disease_progression	ISO	RGD:619553	D	RGD:9068941	20200609	RGD			PMID:20448484|REF_RGD_ID:13432094
12131269	CREBBP	CREB binding protein	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:619553	D	RGD:9068941	20200609	RGD		protein:altered localization:nucleus	PMID:19291221|REF_RGD_ID:10059583
12131269	CREBBP	CREB binding protein	gene	DOID:13620	patent foramen ovale		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12131269	CREBBP	CREB binding protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:21390126|PMID:25741868|PMID:28970362|PMID:29551561|PMID:35101336
12131269	CREBBP	CREB binding protein	gene	DOID:1574	alcohol use disorder		ISO	RGD:2401	D	RGD:9068941	20231214	RGD		mRNA, protein:decreased expression:amygdala	PMID:29991681|REF_RGD_ID:401938626
12131269	CREBBP	CREB binding protein	gene	DOID:1657	ventricular septal defect		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:1682	congenital heart disease		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:1686	glaucoma		ISO	RGD:619552	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
12131269	CREBBP	CREB binding protein	gene	DOID:1826	epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060
12131269	CREBBP	CREB binding protein	gene	DOID:1827	generalized epilepsy		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
12131269	CREBBP	CREB binding protein	gene	DOID:1882	atrial heart septal defect		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
12131269	CREBBP	CREB binding protein	gene	DOID:1909	melanoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131269	CREBBP	CREB binding protein	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:7240710	20180130	OMIM			
12131269	CREBBP	CREB binding protein	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2	PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:33560380|PMID:7630403|PMID:8967953
12131269	CREBBP	CREB binding protein	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1	PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17855048|PMID:18414213|PMID:18792986|PMID:20583168|PMID:20684013|PMID:21390126|PMID:21680795|PMID:21796119|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26619011|PMID:26633545|PMID:27257017|PMID:27257180|PMID:27311832|PMID:28492532|PMID:28523540|PMID:28707430|PMID:28970362|PMID:29460469|PMID:29551561|PMID:32170002|PMID:32827181|PMID:33560380|PMID:7630403|PMID:8967953
12131269	CREBBP	CREB binding protein	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: Broad thumbs and great toes, characteristic facies, and mental retardation | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2	PMID:11331617|PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19852432|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21390126|PMID:21680795|PMID:21796119|PMID:21932317|PMID:21984751|PMID:22591219|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:24088041|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25599811|PMID:25640679|PMID:25741868|PMID:25741869|PMID:25805166|PMID:26087898|PMID:26486927|PMID:26580448|PMID:26619011|PMID:26633545|PMID:26788536|PMID:26956253|PMID:27257180|PMID:27311832|PMID:27899157|PMID:28492532|PMID:28523540|PMID:28600779|PMID:28970362|PMID:29132461|PMID:29359884|PMID:29460469|PMID:29551561|PMID:30029678|PMID:30586318|PMID:30587507|PMID:30737887|PMID:30755392|PMID:31566936|PMID:31637876|PMID:31981491|PMID:32170002|PMID:32386048|PMID:32601476|PMID:32827181|PMID:33502061|PMID:33560380|PMID:33747050|PMID:34652060|PMID:35904974|PMID:36474027|PMID:37091313|PMID:38553851|PMID:7630403|PMID:8967953|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:619552	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: BROAD THUMB-HALLUX SYNDROME | ClinVar Annotator: match by term: Broad thumb-hallux syndrome | ClinVar Annotator: match by term: CREBBP-related condition | ClinVar Annotator: match by term: CREBBP-related disorder | ClinVar Annotator: match by term: RUBINSTEIN SYNDROME | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 1 | ClinVar Annotator: match by term: RUBINSTEIN-TAYBI SYNDROME 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 1 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome 2 | ClinVar Annotator: match by term: Rubinstein-Taybi syndrome-1	PMID:12070251|PMID:12114483|PMID:12566391|PMID:14974086|PMID:15706485|PMID:16021471|PMID:16199547|PMID:16359492|PMID:16980541|PMID:17052327|PMID:17460549|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19852432|PMID:20301699|PMID:20358623|PMID:20583168|PMID:20684013|PMID:20689175|PMID:21390126|PMID:21932317|PMID:21984751|PMID:22591219|PMID:23619509|PMID:24728327|PMID:25108505|PMID:25388907|PMID:25640679|PMID:25741868|PMID:25805166|PMID:26580448|PMID:26788536|PMID:27311832|PMID:27899157|PMID:28492532|PMID:28600779|PMID:29132461|PMID:29359884|PMID:29460469|PMID:30587507|PMID:30737887|PMID:30755392|PMID:31566936|PMID:31637876|PMID:31981491|PMID:32170002|PMID:32386048|PMID:32601476|PMID:32827181|PMID:33063428|PMID:33502061|PMID:33747050|PMID:34652060|PMID:35101336|PMID:35626936|PMID:35833092|PMID:35986282|PMID:36964972|PMID:37091313|PMID:38553851|PMID:39285472|PMID:7630403|PMID:8967953|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:2340	craniosynostosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Trigonocephaly	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:255	hemangioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822268
12131269	CREBBP	CREB binding protein	gene	DOID:2841	asthma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12131269	CREBBP	CREB binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12131269	CREBBP	CREB binding protein	gene	DOID:3234	central nervous system lymphoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary central nervous system lymphoma	PMID:27993330
12131269	CREBBP	CREB binding protein	gene	DOID:3307	teratoma		ISO	RGD:619552	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12131269	CREBBP	CREB binding protein	gene	DOID:3459	breast carcinoma		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:3490	Noonan syndrome		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome	
12131269	CREBBP	CREB binding protein	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12131269	CREBBP	CREB binding protein	gene	DOID:3846	adamantinous craniopharyngioma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adamantinous craniopharyngioma	PMID:27993330|PMID:38421446
12131269	CREBBP	CREB binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of lung	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:25741868|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27158780
12131269	CREBBP	CREB binding protein	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:4001	ovarian carcinoma		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian carcinoma	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:420	hypertrichosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131269	CREBBP	CREB binding protein	gene	DOID:4667	kyphosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:27993330|PMID:36854806
12131269	CREBBP	CREB binding protein	gene	DOID:5327	retinal detachment		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:5374	pilomatrixoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilomatrixoma	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:540	strabismus		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:16757948|PMID:17352659|PMID:25741868|PMID:27311832|PMID:29460469|PMID:30737887|PMID:34652060
12131269	CREBBP	CREB binding protein	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941188
12131269	CREBBP	CREB binding protein	gene	DOID:552	pneumonia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:25741868|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131269	CREBBP	CREB binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:576	proteinuria		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: proteinuria	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131269	CREBBP	CREB binding protein	gene	DOID:630	genetic disease		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11023789|PMID:12114483|PMID:16021471|PMID:17460549|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:23619509|PMID:23651431|PMID:23934153|PMID:24521098|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:29460469|PMID:30544257|PMID:30755392|PMID:34516402|PMID:37091313|PMID:38553851|PMID:9215639|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:630	genetic disease		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11023789|PMID:12114483|PMID:17460549|PMID:17576681|PMID:18414213|PMID:18792986|PMID:19651603|PMID:20684013|PMID:20689175|PMID:23619509|PMID:23651431|PMID:23934153|PMID:24521098|PMID:25388907|PMID:25741868|PMID:25741869|PMID:28492532|PMID:29460469|PMID:30544257|PMID:30755392|PMID:34516402|PMID:37091313|PMID:38553851|PMID:9215639|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:674	cleft palate		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619552	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hepatocellular cancer	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:25741868|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131269	CREBBP	CREB binding protein	gene	DOID:769	neuroblastoma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:23334666|PMID:27993330|PMID:33381456
12131269	CREBBP	CREB binding protein	gene	DOID:8488	polyhydramnios		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12131269	CREBBP	CREB binding protein	gene	DOID:8541	Sezary's disease		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
12131269	CREBBP	CREB binding protein	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12131269	CREBBP	CREB binding protein	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vocal cord paralysis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001031	Retrognathia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9001502	Congenital Microtia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001510	Funnel Chest		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001581	Constipation		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:27311832|PMID:29460469|PMID:30737887|PMID:34652060
12131269	CREBBP	CREB binding protein	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus flammeus	
12131269	CREBBP	CREB binding protein	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001981	Weight Loss		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:16757948|PMID:17352659|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:619552	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:12070251|PMID:12114483|PMID:16359492|PMID:17052327|PMID:18792986|PMID:20689175|PMID:25741868|PMID:28492532|PMID:32170002|PMID:32827181
12131269	CREBBP	CREB binding protein	gene	DOID:9002134	Heart Murmurs		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12131269	CREBBP	CREB binding protein	gene	DOID:9002189	High Myopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:619552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378487|PMID:25735316
12131269	CREBBP	CREB binding protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12131269	CREBBP	CREB binding protein	gene	DOID:9003133	Hypertelorism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9003137	Photophobia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:619552	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Uterine cervical neoplasms	PMID:21390126|PMID:21680795|PMID:21796119|PMID:22832583|PMID:23334668|PMID:23685749|PMID:23778141|PMID:25741868|PMID:26087898|PMID:26619011|PMID:27257180|PMID:28492532|PMID:28970362|PMID:29551561|PMID:33560380
12131269	CREBBP	CREB binding protein	gene	DOID:9003748	Thumb Deformity		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thumb deformity	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9003816	Macrocephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9003837	Au-Kline Syndrome		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Kabuki-like syndrome	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9004108	Fused Kidney		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9004507	Hirsutism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
12131269	CREBBP	CREB binding protein	gene	DOID:9004866	Ataxia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9005077	Joint Instability		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
12131269	CREBBP	CREB binding protein	gene	DOID:9005077	Joint Instability		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16757948|PMID:17352659|PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
12131269	CREBBP	CREB binding protein	gene	DOID:9005466	Language Development Disorders		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469
12131269	CREBBP	CREB binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18414213|PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:18414213|PMID:20684013|PMID:25741868|PMID:28492532|PMID:29460469|PMID:30755392
12131269	CREBBP	CREB binding protein	gene	DOID:9005616	Micrognathism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9005809	Thyroid Nodule		ISO	RGD:619552	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid nodule	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9006588	Trismus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trismus	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9006637	Schizencephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:619552	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9006827	Lung Reperfusion Injury	ameliorates	ISO	RGD:619553	D	RGD:9068941	20220915	RGD			PMID:34238924|REF_RGD_ID:153350155
12131269	CREBBP	CREB binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9007559	Thyroglossal Cyst		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroglossal cyst	
12131269	CREBBP	CREB binding protein	gene	DOID:9007573	Flatfoot		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature | ClinVar Annotator: match by term: short stature	PMID:18414213|PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060
12131269	CREBBP	CREB binding protein	gene	DOID:9007661	Dwarfism		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16757948|PMID:17352659|PMID:18414213|PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30737887|PMID:30892814|PMID:34652060|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:2401	D	RGD:9068941	20220915	RGD			PMID:24338162|REF_RGD_ID:153352322
12131269	CREBBP	CREB binding protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:619552	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:16757948|PMID:17352659|PMID:18414213|PMID:25741868|PMID:27311832|PMID:28492532|PMID:29460469|PMID:30737887|PMID:34652060
12131269	CREBBP	CREB binding protein	gene	DOID:9008305	Talipes Cavus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:28492532|PMID:37091313
12131269	CREBBP	CREB binding protein	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9008589	Hallux Valgus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9008706	Menke-Hennekam Syndrome		ISO	RGD:619552	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Menke-Hennekam syndrome	PMID:25741868|PMID:27311832|PMID:29159939|PMID:29460469|PMID:30892814
12131269	CREBBP	CREB binding protein	gene	DOID:9008811	Tachypnea		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131269	CREBBP	CREB binding protein	gene	DOID:9008974	Menke-Hennekam Syndrome 1		ISO	RGD:619552	D	RGD:7240710	20190315	OMIM			
12131269	CREBBP	CREB binding protein	gene	DOID:9008974	Menke-Hennekam Syndrome 1		ISO	RGD:619552	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: CREBBP-related disorder | ClinVar Annotator: match by term: MENKE-HENNEKAM SYNDROME 1 | ClinVar Annotator: match by term: Menke-Hennekam syndrome 1	PMID:11023789|PMID:12070251|PMID:15706485|PMID:16199547|PMID:16980541|PMID:17052327|PMID:17576681|PMID:17942008|PMID:18414213|PMID:18792986|PMID:19651603|PMID:25741868|PMID:25741869|PMID:27311832|PMID:28492532|PMID:29132461|PMID:29159939|PMID:29460469|PMID:30029678|PMID:30544257|PMID:30892814|PMID:31566936|PMID:32827181|PMID:34652060|PMID:37091313|PMID:37246193|PMID:38553851|PMID:9215639|PMID:9536098
12131269	CREBBP	CREB binding protein	gene	DOID:9009021	Plagiocephaly		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:27993330|PMID:30942411|PMID:36634304
12131269	CREBBP	CREB binding protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:7630403
12131269	CREBBP	CREB binding protein	gene	DOID:9538	multiple myeloma		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9834	hyperopia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:18414213|PMID:25741868
12131269	CREBBP	CREB binding protein	gene	DOID:9840	esotropia		ISO	RGD:619552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
12131269	CREBBP	CREB binding protein	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:619552	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple	PMID:25917266|REF_RGD_ID:11060149
12131269	CREBBP	CREB binding protein	gene	DOID:9970	obesity		ISO	RGD:619552	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:7630403
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:0060058	lymphoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:10534	stomach cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1059	intellectual disability		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:10907	microcephaly		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1115	sarcoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1324	lung cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1826	epilepsy		ISO	RGD:1350731	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1909	melanoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:1969	cerebral palsy		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:2394	ovarian cancer		ISO	RGD:1350731	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:3275	thymoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:4362	cervical cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1350731	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:6039	uveal melanoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350731	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNAH14-Associated Neurodevelopmental Disorder | ClinVar Annotator: match by term: DNAH14-related condition | ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1350731	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131304	DNAH14	dynein axonemal heavy chain 14	gene	DOID:9256	colorectal cancer		ISO	RGD:1350731	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131400	LOC480786	regenerating islet-derived protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131400	LOC480786	regenerating islet-derived protein 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1352664	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:17237819
12131400	LOC480786	regenerating islet-derived protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131400	LOC480786	regenerating islet-derived protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352664	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131418	PREB	prolactin regulatory element binding	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131418	PREB	prolactin regulatory element binding	gene	DOID:1115	sarcoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:1909	melanoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:3070	high grade glioma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12131418	PREB	prolactin regulatory element binding	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131418	PREB	prolactin regulatory element binding	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12131418	PREB	prolactin regulatory element binding	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131418	PREB	prolactin regulatory element binding	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131418	PREB	prolactin regulatory element binding	gene	DOID:9256	colorectal cancer		ISO	RGD:1352675	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131431	ART5	ADP-ribosyltransferase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131431	ART5	ADP-ribosyltransferase 5	gene	DOID:1115	sarcoma		ISO	RGD:1347628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131431	ART5	ADP-ribosyltransferase 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131431	ART5	ADP-ribosyltransferase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131431	ART5	ADP-ribosyltransferase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131448	RPS21	ribosomal protein S21	gene	DOID:10534	stomach cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131448	RPS21	ribosomal protein S21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131448	RPS21	ribosomal protein S21	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1348628	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12131448	RPS21	ribosomal protein S21	gene	DOID:1909	melanoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131448	RPS21	ribosomal protein S21	gene	DOID:4362	cervical cancer		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131448	RPS21	ribosomal protein S21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131448	RPS21	ribosomal protein S21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131448	RPS21	ribosomal protein S21	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1348628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12131448	RPS21	ribosomal protein S21	gene	DOID:9000918	Disease Progression		ISO	RGD:1348628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:10608	celiac disease		ISO	RGD:1315877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:12336	male infertility		ISO	RGD:1315877	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:1909	melanoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315877	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131459	PIWIL2	piwi like RNA-mediated gene silencing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131492	NID1	nidogen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737172	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131492	NID1	nidogen 1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:737172	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
12131492	NID1	nidogen 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131492	NID1	nidogen 1	gene	DOID:1115	sarcoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131492	NID1	nidogen 1	gene	DOID:1324	lung cancer		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131492	NID1	nidogen 1	gene	DOID:1909	melanoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131492	NID1	nidogen 1	gene	DOID:2234	focal epilepsy		ISO	RGD:737172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal epilepsy	
12131492	NID1	nidogen 1	gene	DOID:4362	cervical cancer		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131492	NID1	nidogen 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131492	NID1	nidogen 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131492	NID1	nidogen 1	gene	DOID:630	genetic disease		ISO	RGD:737172	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12131492	NID1	nidogen 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131492	NID1	nidogen 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12131492	NID1	nidogen 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131492	NID1	nidogen 1	gene	DOID:9004657	Weight Gain		ISO	RGD:737172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12131492	NID1	nidogen 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131492	NID1	nidogen 1	gene	DOID:9256	colorectal cancer		ISO	RGD:737172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131516	ZNF23	zinc finger protein 23	gene	DOID:1115	sarcoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131516	ZNF23	zinc finger protein 23	gene	DOID:4362	cervical cancer		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131516	ZNF23	zinc finger protein 23	gene	DOID:5041	esophageal cancer		ISO	RGD:1316246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131516	ZNF23	zinc finger protein 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131516	ZNF23	zinc finger protein 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131516	ZNF23	zinc finger protein 23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131516	ZNF23	zinc finger protein 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131516	ZNF23	zinc finger protein 23	gene	DOID:9256	colorectal cancer		ISO	RGD:1316246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:1909	melanoma		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:62311	D	RGD:9068941	20250724	MouseDO		OMIM:194050	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:62311	D	RGD:9068941	20250724	RGD			PMID:12195424|REF_RGD_ID:734863
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:3275	thymoma		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131532	CLIP2	CAP-Gly domain containing linker protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:0080505	Cornelia de Lange syndrome 1		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cornelia de Lange syndrome 1	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1323155	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:630	genetic disease		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:7240710	20190315	OMIM			
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:9004446	Alazami-Yuan Syndrome		ISO	RGD:1323155	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAZAMI-YUAN SYNDROME | ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition	PMID:11295558|PMID:25741868|PMID:28492532
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131553	TAF6	TATA-box binding protein associated factor 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131581	RS1	retinoschisin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131581	RS1	retinoschisin 1	gene	DOID:0060763	X-linked juvenile retinoschisis 1		ISO	RGD:1347162	D	RGD:7240710	20180307	OMIM			
12131581	RS1	retinoschisin 1	gene	DOID:0060763	X-linked juvenile retinoschisis 1		ISO	RGD:1347162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RS1-related condition | ClinVar Annotator: match by term: X-Linked Juvenile Retinoschisis | ClinVar Annotator: match by term: X-linked retinoschisis	PMID:17031297|PMID:20809529|PMID:21527955|PMID:26823236|PMID:28492532|PMID:28559085|PMID:30652005|PMID:35456481|PMID:36856325|PMID:38219857
12131581	RS1	retinoschisin 1	gene	DOID:630	genetic disease		ISO	RGD:1347162	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12131581	RS1	retinoschisin 1	gene	DOID:8465	retinoschisis		ISO	RGD:1347162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Juvenile retinoschisis | ClinVar Annotator: match by term: Retinoschisis	PMID:10533068|PMID:12746437|PMID:15932525|PMID:16199547|PMID:17031297|PMID:17172462|PMID:19390641|PMID:19849666|PMID:20809529|PMID:23453514|PMID:23847049|PMID:25741868|PMID:26823236|PMID:28492532|PMID:28559085|PMID:30652005|PMID:31725702|PMID:33546218|PMID:9618178
12131581	RS1	retinoschisin 1	gene	DOID:8465	retinoschisis	treatment	ISO	RGD:1347162	D	RGD:9068941	20200609	RGD			PMID:16027044|REF_RGD_ID:9587800
12131581	RS1	retinoschisin 1	gene	DOID:8465	retinoschisis	treatment	ISO	RGD:1557176	D	RGD:9068941	20200609	RGD			PMID:15326152|REF_RGD_ID:9587803
12131581	RS1	retinoschisin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1347162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10220153|PMID:10533068|PMID:11013441|PMID:12417531|PMID:15281981|PMID:16361673|PMID:17172462|PMID:17525175|PMID:19849666|PMID:22039241|PMID:22245991|PMID:23288992|PMID:2422791|PMID:24227916|PMID:24529551|PMID:25741868|PMID:26823236|PMID:27995734|PMID:28492532|PMID:28615319|PMID:29739629|PMID:30652|PMID:30652005|PMID:32300273|PMID:32531858|PMID:34624300|PMID:34645606|PMID:34828422|PMID:35119454|PMID:35189768|PMID:35456481|PMID:9618178
12131581	RS1	retinoschisin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:0110429	dilated cardiomyopathy 1H		ISO	RGD:733334	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart:	PMID:16950785|REF_RGD_ID:10044019
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:1059	intellectual disability		ISO	RGD:733334	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:10763	hypertension		ISO	RGD:733334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17351372
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:10907	microcephaly		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:1909	melanoma		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:3070	high grade glioma		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9001502	Congenital Microtia		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9001542	Albuminuria		ISO	RGD:733335	D	RGD:9068941	20200609	RGD			PMID:24231357|REF_RGD_ID:10043830
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9007661	Dwarfism		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12131592	TRPC5	transient receptor potential cation channel subfamily C member 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12131622	RUMY1	regulator of UNG2 and MKLN1 interacting yippee protein 1	gene	DOID:0080600	COVID-19		ISO	RGD:1626688	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12131622	RUMY1	regulator of UNG2 and MKLN1 interacting yippee protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1626688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131622	RUMY1	regulator of UNG2 and MKLN1 interacting yippee protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1626688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131630	TYMS	thymidylate synthetase	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:3921	D	RGD:9068941	20200609	RGD		protein:increased activity:colon (rat)	PMID:10226549|REF_RGD_ID:2317418
12131630	TYMS	thymidylate synthetase	gene	DOID:0050873	follicular lymphoma		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16410450
12131630	TYMS	thymidylate synthetase	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16365025
12131630	TYMS	thymidylate synthetase	gene	DOID:0060984	digenic dyskeratosis congenita		ISO	RGD:732334	D	RGD:7240710	20221207	OMIM			
12131630	TYMS	thymidylate synthetase	gene	DOID:0060984	digenic dyskeratosis congenita		ISO	RGD:732334	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSKERATOSIS CONGENITA, DIGENIC	PMID:25741868
12131630	TYMS	thymidylate synthetase	gene	DOID:0080600	COVID-19		ISO	RGD:732334	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12131630	TYMS	thymidylate synthetase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:3921	D	RGD:9068941	20200609	RGD			PMID:18463958|REF_RGD_ID:2317413
12131630	TYMS	thymidylate synthetase	gene	DOID:1520	colon carcinoma		ISO	RGD:732334	D	RGD:9068941	20200609	RGD		human tumor in mouse model	PMID:17848948|REF_RGD_ID:5133430
12131630	TYMS	thymidylate synthetase	gene	DOID:169	neuroendocrine tumor		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18281538
12131630	TYMS	thymidylate synthetase	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16280240
12131630	TYMS	thymidylate synthetase	gene	DOID:1793	pancreatic cancer		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767
12131630	TYMS	thymidylate synthetase	gene	DOID:1909	melanoma		ISO	RGD:732334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131630	TYMS	thymidylate synthetase	gene	DOID:1984	rectal benign neoplasm		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16931962
12131630	TYMS	thymidylate synthetase	gene	DOID:2355	anemia		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163
12131630	TYMS	thymidylate synthetase	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:732334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868
12131630	TYMS	thymidylate synthetase	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:732334	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs502396,rs16430,rs8423)	PMID:20458436|REF_RGD_ID:401794454
12131630	TYMS	thymidylate synthetase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12131630	TYMS	thymidylate synthetase	gene	DOID:674	cleft palate		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
12131630	TYMS	thymidylate synthetase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18019677|PMID:18230555
12131630	TYMS	thymidylate synthetase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:deletion:3'UTR:1494del6(human)	PMID:17659576|REF_RGD_ID:14696708
12131630	TYMS	thymidylate synthetase	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:22763757|REF_RGD_ID:11075093
12131630	TYMS	thymidylate synthetase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:732334	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:intron, 3'utr:  (rs502396,rs16430,rs8423) (human)	PMID:18635682|REF_RGD_ID:329853746
12131630	TYMS	thymidylate synthetase	gene	DOID:863	nervous system disease		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12131630	TYMS	thymidylate synthetase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15837757|PMID:18505590|PMID:18652704|PMID:19020767
12131630	TYMS	thymidylate synthetase	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		associated with Gastrointestinal Neoplasms;DNA:SNPs: :	PMID:25677447|REF_RGD_ID:11081002
12131630	TYMS	thymidylate synthetase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15999119
12131630	TYMS	thymidylate synthetase	gene	DOID:9002720	Splenomegaly		ISO	RGD:3921	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:spleen (rat)	PMID:11554613|REF_RGD_ID:5133431
12131630	TYMS	thymidylate synthetase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21795601
12131630	TYMS	thymidylate synthetase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15355913|PMID:16284371|PMID:16609021|PMID:18192902|PMID:18652704|PMID:19105824
12131630	TYMS	thymidylate synthetase	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18281538
12131630	TYMS	thymidylate synthetase	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18192902
12131630	TYMS	thymidylate synthetase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18281538|PMID:19020767
12131630	TYMS	thymidylate synthetase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3921	D	RGD:9068941	20200609	RGD			PMID:9635926|REF_RGD_ID:2315839
12131630	TYMS	thymidylate synthetase	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16280240
12131630	TYMS	thymidylate synthetase	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19020767
12131630	TYMS	thymidylate synthetase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12131630	TYMS	thymidylate synthetase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19648163|PMID:21064136|PMID:25007187|PMID:26077125
12131630	TYMS	thymidylate synthetase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732334	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs2853741 (human)	PMID:28347776|REF_RGD_ID:152995291
12131630	TYMS	thymidylate synthetase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131630	TYMS	thymidylate synthetase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:3921	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:adenocarcinoma (rat)	PMID:10523711|REF_RGD_ID:5133433
12131630	TYMS	thymidylate synthetase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15222106|PMID:15386371|PMID:15500737|PMID:16141798|PMID:16943523|PMID:17047489|PMID:17943475|PMID:18607850|PMID:18676755|PMID:19020767|PMID:25944804
12131630	TYMS	thymidylate synthetase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16723031|PMID:19020767|PMID:21501481
12131630	TYMS	thymidylate synthetase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20714149
12131630	TYMS	thymidylate synthetase	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:repeats,insertion/deletion:5'UTR, 3'UTR:	PMID:18774170|REF_RGD_ID:11075096
12131630	TYMS	thymidylate synthetase	gene	DOID:9296	cleft lip		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21254359
12131630	TYMS	thymidylate synthetase	gene	DOID:936	brain disease		ISO	RGD:732334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20714149
12131630	TYMS	thymidylate synthetase	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:repeats:5'UTR:	PMID:17655928|REF_RGD_ID:11075095
12131630	TYMS	thymidylate synthetase	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:17512053|REF_RGD_ID:11075094
12131630	TYMS	thymidylate synthetase	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:732334	D	RGD:9068941	20200609	RGD		DNA:repeats: : rs347430033(human)	PMID:25007187|REF_RGD_ID:11080979
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:10534	stomach cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:1115	sarcoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:1324	lung cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:1909	melanoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:3275	thymoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:4362	cervical cancer		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1315450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131641	MLLT6	MLLT6, PHD finger containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1316666	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1316666	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:0111682	cystic renal dysplasia		ISO	RGD:1316665	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: BICC1-related condition | ClinVar Annotator: match by term: RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Renal dysplasia, cystic, susceptibility to | ClinVar Annotator: match by term: renal dysplasia, cystic, susceptibility to	PMID:21922595|PMID:25741868|PMID:28492532
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:0111682	cystic renal dysplasia	susceptibility	ISO	RGD:1316665	D	RGD:7240710	20200219	OMIM			
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:1074	kidney failure		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:14766	renal agenesis		ISO	RGD:1316665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:25741868|PMID:35005812
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316666	D	RGD:9068941	20220825	MouseDO			
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316665	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:557	kidney disease		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:576	proteinuria		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1316666	D	RGD:9068941	20220825	MouseDO			
12131665	BICC1	BicC family RNA binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131706	CENPH	centromere protein H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131706	CENPH	centromere protein H	gene	DOID:1115	sarcoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131706	CENPH	centromere protein H	gene	DOID:1324	lung cancer		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131706	CENPH	centromere protein H	gene	DOID:1909	melanoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131706	CENPH	centromere protein H	gene	DOID:2394	ovarian cancer		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12131706	CENPH	centromere protein H	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131706	CENPH	centromere protein H	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131706	CENPH	centromere protein H	gene	DOID:5041	esophageal cancer		ISO	RGD:1312617	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131706	CENPH	centromere protein H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131706	CENPH	centromere protein H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131706	CENPH	centromere protein H	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1312617	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
12131706	CENPH	centromere protein H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312617	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:1115	sarcoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:4362	cervical cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1603305	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131728	MPHOSPH8	M-phase phosphoprotein 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1603305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12131750	CHCHD8	coiled-coil-helix-coiled-coil-helix domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131779	FAM216A	family with sequence similarity 216 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131779	FAM216A	family with sequence similarity 216 member A	gene	DOID:1115	sarcoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131779	FAM216A	family with sequence similarity 216 member A	gene	DOID:4362	cervical cancer		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131779	FAM216A	family with sequence similarity 216 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1607038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131779	FAM216A	family with sequence similarity 216 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:10534	stomach cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:1324	lung cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:2394	ovarian cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:4362	cervical cancer		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:5041	esophageal cancer		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131796	ARHGEF19	Rho guanine nucleotide exchange factor 19	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131864	CUL1	cullin 1	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:1317768	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
12131864	CUL1	cullin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131864	CUL1	cullin 1	gene	DOID:1115	sarcoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131864	CUL1	cullin 1	gene	DOID:1909	melanoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131864	CUL1	cullin 1	gene	DOID:3275	thymoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131864	CUL1	cullin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131864	CUL1	cullin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131864	CUL1	cullin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317768	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131864	CUL1	cullin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131864	CUL1	cullin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131864	CUL1	cullin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12131864	CUL1	cullin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131864	CUL1	cullin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12131864	CUL1	cullin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317768	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131890	SELL	selectin L	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131890	SELL	selectin L	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P213S (human)	PMID:21465128|REF_RGD_ID:5685695
12131890	SELL	selectin L	gene	DOID:0060180	colitis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:18054560|REF_RGD_ID:5685703
12131890	SELL	selectin L	gene	DOID:0080162	lupus nephritis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:20512127|REF_RGD_ID:7175284
12131890	SELL	selectin L	gene	DOID:0080600	COVID-19		ISO	RGD:1342543	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12131890	SELL	selectin L	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:21635226|REF_RGD_ID:5685693
12131890	SELL	selectin L	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:21484243|REF_RGD_ID:5685677
12131890	SELL	selectin L	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1342543	D	RGD:9068941	20250116	RGD		protein:increased expression:serum:	PMID:11280567|REF_RGD_ID:597000690
12131890	SELL	selectin L	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:3655	D	RGD:9068941	20250116	RGD		mRNA:increased expression:liver	PMID:9835285|REF_RGD_ID:597015743
12131890	SELL	selectin L	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1342543	D	RGD:9068941	20250116	RGD			PMID:10782906|REF_RGD_ID:597015742
12131890	SELL	selectin L	gene	DOID:14115	toxic shock syndrome		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19375498|REF_RGD_ID:5685700
12131890	SELL	selectin L	gene	DOID:1574	alcohol use disorder		ISO	RGD:1342543	D	RGD:9068941	20250116	RGD		protein:decreased expression:Tcell	PMID:7573774|REF_RGD_ID:597015763
12131890	SELL	selectin L	gene	DOID:1936	atherosclerosis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:21760899|REF_RGD_ID:5685675
12131890	SELL	selectin L	gene	DOID:2237	hepatitis	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:7534512|REF_RGD_ID:597015757
12131890	SELL	selectin L	gene	DOID:2773	contact dermatitis		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:20182448|REF_RGD_ID:5685684
12131890	SELL	selectin L	gene	DOID:2841	asthma		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:21437035|PMID:21515793|REF_RGD_ID:5685685|REF_RGD_ID:5685696
12131890	SELL	selectin L	gene	DOID:289	endometriosis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:17845203|REF_RGD_ID:2303708
12131890	SELL	selectin L	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:11828340|PMID:17452405|REF_RGD_ID:1625253|REF_RGD_ID:7175290
12131890	SELL	selectin L	gene	DOID:341	peripheral vascular disease		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:17924279|REF_RGD_ID:2316357
12131890	SELL	selectin L	gene	DOID:4989	pancreatitis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:16214426|REF_RGD_ID:5685705
12131890	SELL	selectin L	gene	DOID:5199	ureteral obstruction	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:10398147|REF_RGD_ID:597015755
12131890	SELL	selectin L	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131890	SELL	selectin L	gene	DOID:5844	myocardial infarction		ISO	RGD:1342543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10070497
12131890	SELL	selectin L	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12131890	SELL	selectin L	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12131890	SELL	selectin L	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:15998669|REF_RGD_ID:5685707
12131890	SELL	selectin L	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:737030	D	RGD:9068941	20200609	RGD			PMID:15998669|REF_RGD_ID:5685707
12131890	SELL	selectin L	gene	DOID:783	end stage renal disease	no_association	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:22119815|REF_RGD_ID:7175303
12131890	SELL	selectin L	gene	DOID:8577	ulcerative colitis		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.F206L (human)	PMID:19212205|REF_RGD_ID:13464267
12131890	SELL	selectin L	gene	DOID:8778	Crohn's disease		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.F206L (human)	PMID:19212205|REF_RGD_ID:13464267
12131890	SELL	selectin L	gene	DOID:9000352	Vascular System Injuries	ameliorates	ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:1717513|REF_RGD_ID:597015750
12131890	SELL	selectin L	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:22044737|REF_RGD_ID:5685697
12131890	SELL	selectin L	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:19489247|REF_RGD_ID:2313598
12131890	SELL	selectin L	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:11095659|REF_RGD_ID:7175511
12131890	SELL	selectin L	gene	DOID:9004484	Sepsis		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:15677732|PMID:16026013|REF_RGD_ID:5685706|REF_RGD_ID:5686285
12131890	SELL	selectin L	gene	DOID:9004968	Yin Deficiency		ISO	RGD:3655	D	RGD:9068941	20220915	RGD		protein:increased expression:serum	PMID:29729385|REF_RGD_ID:153350148
12131890	SELL	selectin L	gene	DOID:9005372	Inflammation		ISO	RGD:737030	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix, vagina	PMID:22391529|REF_RGD_ID:6480101
12131890	SELL	selectin L	gene	DOID:9005647	Experimental Autoimmune Uveitis		ISO	RGD:3655	D	RGD:9068941	20250118	RGD		protein:increased expression:serum:	PMID:7690324|REF_RGD_ID:597015766
12131890	SELL	selectin L	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3655	D	RGD:9068941	20250116	RGD			PMID:7537789|REF_RGD_ID:597015754
12131890	SELL	selectin L	gene	DOID:9006439	Electric Burns		ISO	RGD:3655	D	RGD:9068941	20200609	RGD			PMID:21641115|REF_RGD_ID:5685698
12131890	SELL	selectin L	gene	DOID:9008884	Decompression Sickness		ISO	RGD:3655	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, lung, quadriceps	PMID:18279101|REF_RGD_ID:5685701
12131890	SELL	selectin L	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:20512127|REF_RGD_ID:7175284
12131890	SELL	selectin L	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1342543	D	RGD:9068941	20200609	RGD			PMID:22119815|REF_RGD_ID:7175303
12131890	SELL	selectin L	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737030	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:10534	stomach cancer		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:3275	thymoma		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:4362	cervical cancer		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736076	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:5041	esophageal cancer		ISO	RGD:736076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:9002669	Hypoxia		ISO	RGD:2739	D	RGD:9068941	20260418	RGD		mRNA, protein:increased expression:periventricular white matter	PMID:21319220|REF_RGD_ID:645123309
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2739	D	RGD:9068941	20260416	RGD		mRNA:increased expression:medulla oblongata	PMID:22486438|REF_RGD_ID:645122583
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131906	GRIN2C	glutamate ionotropic receptor NMDA type subunit 2C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:1324	lung cancer		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:1909	melanoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:3275	thymoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:6039	uveal melanoma		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12131923	TBC1D17	TBC1 domain family member 17	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:20591883|REF_RGD_ID:7257521
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0080382	nephrotic syndrome type 3		ISO	RGD:1606000	D	RGD:7240710	20180130	OMIM			
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0080382	nephrotic syndrome type 3		ISO	RGD:1606000	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, EARLY-ONSET, TYPE 3 | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 3 | ClinVar Annotator: match by term: Nephrotic syndrome, type 3 | ClinVar Annotator: match by term: PLCE1-related condition	PMID:16199547|PMID:17086182|PMID:18065803|PMID:18709391|PMID:18975016|PMID:20507940|PMID:20591883|PMID:22865593|PMID:24500309|PMID:24902943|PMID:25741868|PMID:26467025|PMID:27766458|PMID:28204945|PMID:28492532|PMID:31308072|PMID:31319225|PMID:35497790|PMID:36413997|PMID:36743378|PMID:37204080
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1606000	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:25741868
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1606000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:1115	sarcoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868|PMID:29127259
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:1184	nephrotic syndrome	onset	ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:17086182|REF_RGD_ID:7257519
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22001756
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:18975016|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31308072|PMID:36743378
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:1909	melanoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:2921	glomerulonephritis		ISO	RGD:1606000	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:3717	gastric adenocarcinoma	ameliorates	ISO	RGD:1606000	D	RGD:9068941	20220415	RGD		human cells in a mouse model	PMID:24796667|REF_RGD_ID:151708719
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852|PMID:20729853
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:557	kidney disease		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:20591883|PMID:22865593|PMID:25741868|PMID:26467025|PMID:28492532
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:630	genetic disease		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36413997
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606000	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20729852
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:9008897	Diffuse Mesangial Sclerosis		ISO	RGD:1606000	D	RGD:9068941	20200609	RGD		DNA:mutations: :	PMID:18065803|REF_RGD_ID:7257520
12131944	PLCE1	phospholipase C epsilon 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606000	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1346483	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:25741868
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0050877	pancreatic agenesis		ISO	RGD:1346483	D	RGD:9068941	20241102	CTD		CTD Direct Evidence: marker/mechanism	PMID:15543146|PMID:22158542|PMID:24212882
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:1346483	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus	PMID:25741868
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0060988	pancreatic agenesis 2		ISO	RGD:1346483	D	RGD:7240710	20200226	OMIM			
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0060988	pancreatic agenesis 2		ISO	RGD:1346483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 | ClinVar Annotator: match by term: PTF1A-related condition | ClinVar Annotator: match by term: Pancreatic agenesis 2	PMID:25741868|PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1346483	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1346483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:2786	cerebellar disease		ISO	RGD:1346483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15543146|PMID:19650412
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:630	genetic disease		ISO	RGD:1346483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9005970	Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis		ISO	RGD:1346483	D	RGD:7240710	20180130	OMIM			
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9005970	Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis		ISO	RGD:1346483	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS	PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346483	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21182459
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9351	diabetes mellitus		ISO	RGD:1346483	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346483	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9452	steatotic liver disease		ISO	RGD:1346483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28492532
12132133	PTF1A	pancreas associated transcription factor 1a	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1346483	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neonatal insulin-dependent diabetes mellitus	PMID:18591390|PMID:28492532
12132159	ELSPBP1	epididymal sperm binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132159	ELSPBP1	epididymal sperm binding protein 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1354263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:1115	sarcoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:3275	thymoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1352592	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:9001599	Oocyte/Zygote/Embryo Maturation Arrest 6		ISO	RGD:1352592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Oocyte maturation defect 6	PMID:28886344|PMID:32573113
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:9005770	Oocyte Maturation Defect 3		ISO	RGD:1352592	D	RGD:7240710	20190315	OMIM			
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:9005770	Oocyte Maturation Defect 3		ISO	RGD:1352592	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Empty follicle syndrome | ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 3 | ClinVar Annotator: match by term: Oocyte maturation defect 3 | ClinVar Annotator: match by term: ZP3-related condition	PMID:25741868|PMID:28886344|PMID:32573113
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132177	ZP3	zona pellucida glycoprotein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:11018746|PMID:23975452|PMID:25481104
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:731296	D	RGD:7240710	20180130	OMIM			
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:0112127	HRPT-related hyperuricemia		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: HYPERURICEMIA, HPRT-RELATED | ClinVar Annotator: match by term: HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY, PARTIAL | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency	PMID:10737990|PMID:11018746|PMID:1301916|PMID:15386453|PMID:1551676|PMID:15571220|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17483691|PMID:19016344|PMID:20176575|PMID:2071157|PMID:20981450|PMID:22157001|PMID:22999896|PMID:2323782|PMID:2347587|PMID:23975452|PMID:2516172|PMID:25481104|PMID:25741868|PMID:27288985|PMID:2738157|PMID:28492532|PMID:2928313|PMID:3198771|PMID:8125482
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:731296	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15571220|PMID:17027311|PMID:22157001|PMID:2323782|PMID:23975452|PMID:25481104|PMID:25741868|PMID:28492532
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1919	Lesch-Nyhan syndrome		ISO	RGD:731296	D	RGD:7240710	20180130	OMIM			
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1919	Lesch-Nyhan syndrome		ISO	RGD:731296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HPRT DEFICIENCY, COMPLETE | ClinVar Annotator: match by term: HPRT FUJIMI | ClinVar Annotator: match by term: LESCH-NYHAN SYNDROME | ClinVar Annotator: match by term: Lesch-Nyhan syndrome	PMID:10518289|PMID:10737990|PMID:11018746|PMID:11068166|PMID:1301916|PMID:1483694|PMID:1487231|PMID:15386453|PMID:15505382|PMID:15571220|PMID:16199547|PMID:16549399|PMID:17027311|PMID:17454734|PMID:17576681|PMID:1781350|PMID:1840549|PMID:18600506|PMID:18779430|PMID:19016344|PMID:20301328|PMID:20544510|PMID:20638392|PMID:20981450|PMID:22132982|PMID:22132984|PMID:22157001|PMID:22999896|PMID:2323782|PMID:23597535|PMID:23975452|PMID:25136576|PMID:25481104|PMID:25612837|PMID:25741868|PMID:2738157|PMID:28045594|PMID:28492532|PMID:29185864|PMID:2928313|PMID:31182398|PMID:3265398|PMID:3384338|PMID:34765395|PMID:36964972|PMID:40794449|PMID:8111415|PMID:8112742|PMID:8314557|PMID:9288634|PMID:9536098|PMID:9799086
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:1920	hyperuricemia		ISO	RGD:731296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23348497
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:3312	bipolar disorder		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:24940672|PMID:25420563|PMID:25482009|PMID:9003484
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:731296	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2826	D	RGD:9068941	20200609	RGD		protein:increased activity:hepatoma (rat)	PMID:6327016|REF_RGD_ID:5135035
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005497	Lesch-Nyhan Syndrome, Neurologic Variant		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LESCH-NYHAN SYNDROME, NEUROLOGIC VARIANT | ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant	PMID:10737990|PMID:1301916|PMID:17454734|PMID:20981450|PMID:22157001|PMID:22999896|PMID:25481104|PMID:28492532
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731296	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2826	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:3043317|REF_RGD_ID:5135485
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132189	HPRT1	hypoxanthine phosphoribosyltransferase 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:731296	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12132212	PFDN6	prefoldin subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132212	PFDN6	prefoldin subunit 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351314	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:621539	D	RGD:9068941	20260516	RGD			PMID:29595455|REF_RGD_ID:714201022
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:733858	D	RGD:9068941	20260516	RGD			PMID:29595455|REF_RGD_ID:714201022
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733858	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2656070, rs13180(human)	PMID:16914832|REF_RGD_ID:6893299
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		mRNA:increased expression:duodenal mucosa (rat)	PMID:18549630|REF_RGD_ID:12904038
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:11758	iron deficiency anemia		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		protein:altered activity:intestinal villus of duodenum (rat)	PMID:10095770|REF_RGD_ID:12910699
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1289	neurodegenerative disease		ISO	RGD:736754	D	RGD:9068941	20200609	RGD			PMID:18685102|REF_RGD_ID:6893298
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:733858	D	RGD:9068941	20260423	RGD			PMID:20405006|REF_RGD_ID:645135163
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs1062980	PMID:28453699|REF_RGD_ID:645123322
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNPs: :rs13180, rs2568494, rs10851906	PMID:26310313|REF_RGD_ID:11535254
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:1969	cerebral palsy		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:2018	hyperinsulinism		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:25385842|REF_RGD_ID:12903966
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:621539	D	RGD:9068941	20260423	RGD			PMID:37839303|REF_RGD_ID:645135165
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:2355	anemia		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain (rat)	PMID:27602087|REF_RGD_ID:12903962
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:2355	anemia	treatment	ISO	RGD:621539	D	RGD:9068941	20200609	RGD			PMID:26584806|REF_RGD_ID:12903965
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:2367	neuroaxonal dystrophy		ISO	RGD:736754	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:26506412|REF_RGD_ID:11344088
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNP, haplotype: :rs13180	PMID:28474623|REF_RGD_ID:645135162
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs13180	PMID:25565795|REF_RGD_ID:645123321
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNPs: :rs2656069, rs10851906	PMID:22914670|REF_RGD_ID:645123323
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:733858	D	RGD:9068941	20260423	RGD		mRNA, protein:increased expression:lung	PMID:19800047|REF_RGD_ID:645123324
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:621539	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs2568494	PMID:22027142|REF_RGD_ID:645135161
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:733858	D	RGD:9068941	20260207	RGD		DNA:SNP: :rs13180	PMID:23299987|REF_RGD_ID:632518348
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNP: :rs16969858	PMID:29872291|REF_RGD_ID:645123325
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:733858	D	RGD:9068941	20260423	RGD		DNA:SNPs: :multiple	PMID:19800047|REF_RGD_ID:645123324
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:621539	D	RGD:9068941	20260521	RGD			PMID:39252618|REF_RGD_ID:730454547
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:733858	D	RGD:9068941	20260423	RGD			PMID:28404645|REF_RGD_ID:645135159
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733858	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:543	dystonia		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:733858	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:621539	D	RGD:9068941	20260423	RGD			PMID:35275447|REF_RGD_ID:645135171
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:621539	D	RGD:9068941	20260423	RGD		associated with steatotic liver disease	PMID:35720183|REF_RGD_ID:645135164
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9002669	Hypoxia		ISO	RGD:621539	D	RGD:9068941	20260423	RGD		protein:increased expression:periventricular white matter, oligodendrocyte	PMID:26319559|REF_RGD_ID:645135170
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:621539	D	RGD:9068941	20260423	RGD			PMID:29386206|REF_RGD_ID:645135168
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:27602087|REF_RGD_ID:12903962
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:733858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20390345
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9004756	Brain Hypoxia		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		protein:increased expression:periventricular white matter (rat)	PMID:22159112|REF_RGD_ID:6893269
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9005725	Iron Overload		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebral cortex (rat)	PMID:19943190|REF_RGD_ID:6893272
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:23229539|REF_RGD_ID:12904023
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9006411	Testicular Injury	treatment	ISO	RGD:621539	D	RGD:9068941	20260423	RGD			PMID:39565397|REF_RGD_ID:645135166
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:621539	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22154532|REF_RGD_ID:12904026
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9009167	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA		ISO	RGD:733858	D	RGD:7240710	20190918	OMIM			
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9009167	NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA		ISO	RGD:733858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IREB2-related condition | ClinVar Annotator: match by term: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA | ClinVar Annotator: match by term: Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia	PMID:25741868|PMID:28492532|PMID:30915432
12132221	IREB2	iron responsive element binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:1324	lung cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:1909	melanoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1601832	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:34664776
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:4362	cervical cancer		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132247	SNAP47	synaptosome associated protein 47	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601832	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132257	KLHDC10	kelch domain containing 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1602130	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12132257	KLHDC10	kelch domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602130	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:1115	sarcoma		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1604821	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604821	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132270	CWC15	CWC15 spliceosome associated protein homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604821	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:10534	stomach cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:1115	sarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:1324	lung cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:1909	melanoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:3275	thymoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:4362	cervical cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1349038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132284	DNAAF9	dynein axonemal assembly factor 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0070480	schwannomatosis 1		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SMARCB1-related schwannomatosis | ClinVar Annotator: match by term: SWNTS1	PMID:25741868|PMID:27930734|PMID:28492532
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:731858	D	RGD:7240710	20180130	OMIM			
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral acoustic neurofibromatosis | ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 | ClinVar Annotator: match by term: SCHWANNOMATOSIS, VESTIBULAR | ClinVar Annotator: match by term: neurofibromatosis type 2	PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11129337|PMID:11448944|PMID:11535133|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:16009910|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17431981|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18554169|PMID:18670066|PMID:19249154|PMID:19451225|PMID:19545378|PMID:19924781|PMID:19968670|PMID:20445339|PMID:20553997|PMID:21278391|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:23348505|PMID:23354516|PMID:23921927|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24815379|PMID:25326635|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25893302|PMID:25931164|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26342709|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27704245|PMID:27930734|PMID:27993330|PMID:28409725|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29626191|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29887214|PMID:30250447|PMID:30306255|PMID:30594554|PMID:30661751|PMID:31024808|PMID:31257748|PMID:31273341|PMID:31567203|PMID:31615938|PMID:31652973|PMID:31712784|PMID:32373528|PMID:32529330|PMID:32724039|PMID:33058421|PMID:33067351|PMID:33087175|PMID:33606809|PMID:34069252|PMID:34285798|PMID:34424918|PMID:35101336|PMID:35264596|PMID:35332608|PMID:35570314|PMID:35729665|PMID:36451132|PMID:37087513|PMID:37841698|PMID:38456936|PMID:4000972|PMID:40249415|PMID:7535084|PMID:7666400|PMID:7711726|PMID:7759081|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8557252|PMID:8566958|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:9391890|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9817921|PMID:9817927|PMID:9931334
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral acoustic neurofibromatosis | ClinVar Annotator: match by term: Bilateral vestibular schwannoma | ClinVar Annotator: match by term: Neurofibromatosis, type 2 | ClinVar Annotator: match by term: SCHWANNOMATOSIS, VESTIBULAR | ClinVar Annotator: match by term: neurofibromatosis type 2	PMID:10220142|PMID:10691417|PMID:10712203|PMID:10777666|PMID:10970839|PMID:11085592|PMID:11129337|PMID:11448944|PMID:11535133|PMID:11756419|PMID:11779178|PMID:11809806|PMID:12118253|PMID:12217955|PMID:12566519|PMID:12695331|PMID:12807969|PMID:1479598|PMID:15598747|PMID:15635074|PMID:15645494|PMID:15684865|PMID:16009910|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17431981|PMID:17576681|PMID:17607601|PMID:18033041|PMID:18406647|PMID:18554169|PMID:18670066|PMID:19249154|PMID:19451225|PMID:19545378|PMID:19924781|PMID:19968670|PMID:20445339|PMID:20553997|PMID:21278391|PMID:21563229|PMID:21671232|PMID:21906157|PMID:22012890|PMID:22081132|PMID:22295085|PMID:23348505|PMID:23354516|PMID:23921927|PMID:24030433|PMID:24033266|PMID:24309211|PMID:24595234|PMID:24815379|PMID:2543905|PMID:25525159|PMID:25567352|PMID:25640679|PMID:25741868|PMID:25893302|PMID:25931164|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26342709|PMID:26343386|PMID:26407091|PMID:26467025|PMID:27704245|PMID:27930734|PMID:27993330|PMID:28409725|PMID:28492532|PMID:28526081|PMID:28737257|PMID:28873162|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29626191|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29887214|PMID:30250447|PMID:30306255|PMID:30594554|PMID:30661751|PMID:31024808|PMID:31257748|PMID:31273341|PMID:31567203|PMID:31615938|PMID:31652973|PMID:31712784|PMID:32373528|PMID:32529330|PMID:32724039|PMID:33058421|PMID:33067351|PMID:33087175|PMID:33606809|PMID:34069252|PMID:34273915|PMID:34285798|PMID:34424918|PMID:35101336|PMID:35264596|PMID:35332608|PMID:35570314|PMID:35729665|PMID:36451132|PMID:37087513|PMID:37841698|PMID:38456936|PMID:7535084|PMID:7711726|PMID:7759081|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8557252|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8757035|PMID:8882871|PMID:9391890|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9817921|PMID:9817927|PMID:9931334
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:731858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:10754	otitis media		ISO	RGD:731859	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:12270	coloboma		ISO	RGD:731859	D	RGD:9068941	20220825	MouseDO		OMIM:120200 | OMIM:120300 | OMIM:216820	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:12689	acoustic neuroma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acoustic neuroma	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16199547|PMID:16983642|PMID:19910496|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34046057|PMID:35101336|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:1612	breast cancer		ISO	RGD:731858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cancer breast	PMID:25741868|PMID:28492532
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:10322,RGD:731792	D	RGD:9068941	20211224	RGD			PMID:32271879|REF_RGD_ID:150530636
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:1790	malignant mesothelioma		ISO	RGD:731858	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:23435014|PMID:26463840|PMID:26678224|PMID:26928227|PMID:29112861|PMID:37441092
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:1790	malignant mesothelioma	disease_progression	ISO	RGD:731859	D	RGD:9068941	20211224	RGD			PMID:16166281|REF_RGD_ID:150530640
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:1826	epilepsy		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12566519|PMID:16983642|PMID:18033041|PMID:25741868|PMID:27704245|PMID:28492532|PMID:28737257|PMID:35101336|PMID:7913580|PMID:8379998|PMID:9391890|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:3070	high grade glioma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:3192	neurilemmoma		ISO	RGD:731858	D	RGD:9068941	20211217	RGD		DNA:loss of heterozygosity	PMID:7669741|REF_RGD_ID:150530508
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:3462	hamartoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hamartoma	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:3565	meningioma		ISO	RGD:731858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meningioma	PMID:12000789|PMID:12566519|PMID:16983642|PMID:18033041|PMID:20682713|PMID:21294614|PMID:22711605|PMID:22825583|PMID:23196945|PMID:23334667|PMID:25741868|PMID:26073919|PMID:27704245|PMID:27993330|PMID:28492532|PMID:28737257|PMID:29781505|PMID:31273341|PMID:31652973|PMID:32716568|PMID:33067351|PMID:33087175|PMID:35101336|PMID:7913580|PMID:8162072|PMID:8379998|PMID:8755919|PMID:8882871|PMID:9391890|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731858	D	RGD:9068941	20211224	RGD			PMID:21743150|REF_RGD_ID:150530639
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4235	spindle cell sarcoma		ISO	RGD:731858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spindle cell sarcoma	PMID:28890946
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4362	cervical cancer		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25401301
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731859	D	RGD:9068941	20200609	RGD			PMID:19487675|REF_RGD_ID:2315000
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4450	renal cell carcinoma		ISO	RGD:731859	D	RGD:9068941	20220825	MouseDO		OMIM:300854	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16199547|PMID:16983642|PMID:17222329|PMID:28492532|PMID:7759081|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4586	familial meningioma		ISO	RGD:731858	D	RGD:7240710	20230505	OMIM			
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:4586	familial meningioma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial meningioma | ClinVar Annotator: match by term: Meningioma, familial | ClinVar Annotator: match by term: Meningioma, familial, susceptibility to	PMID:11756419|PMID:16532029|PMID:16983642|PMID:17576681|PMID:22081132|PMID:25741868|PMID:26045165|PMID:26332594|PMID:27930734|PMID:28492532|PMID:29316957|PMID:29409008|PMID:30306255|PMID:33058421|PMID:34424918|PMID:35264596|PMID:8012353|PMID:9536098
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:5327	retinal detachment		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal detachment	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:540	strabismus		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:5503	spinal cord ependymoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal cord ependymoma	PMID:27993330
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:5648	choroid plexus carcinoma		ISO	RGD:731858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHOROID PLEXUS CARCINOMA	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731858	D	RGD:9068941	20211217	RGD			PMID:27289045|REF_RGD_ID:150530504
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731858	D	RGD:9068941	20211217	RGD		DNA, protein:SNP, increased expression:intron, liver	PMID:29130106|REF_RGD_ID:150530489
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:731858	D	RGD:9068941	20211217	RGD		protein:decreased expression:liver	PMID:26443326|REF_RGD_ID:11076529
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:7474	malignant pleural mesothelioma		ISO	RGD:731858	D	RGD:9068941	20211224	RGD			PMID:26928227|REF_RGD_ID:150429647
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:731858	D	RGD:9068941	20211224	RGD			PMID:27378628|REF_RGD_ID:150530638
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:731858	D	RGD:9068941	20211224	RGD		DNA:loss of heterozygosity	PMID:26493618|REF_RGD_ID:11553131
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:8927	learning disability		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:1484939|PMID:15684865|PMID:7535084
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9000315	Pleural Neoplasms		ISO	RGD:731858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23435014
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9000343	Vision Disorders		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:12566519|PMID:16983642|PMID:18033041|PMID:25741868|PMID:27704245|PMID:28492532|PMID:28737257|PMID:35101336|PMID:7913580|PMID:8379998|PMID:9391890|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9003566	Mesothelioma		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9005834	Ependymomas		ISO	RGD:731858	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9005883	Pleural Effusion		ISO	RGD:731858	D	RGD:9068941	20241003	CTD		CTD Direct Evidence: marker/mechanism	PMID:37441092
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:731858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:20553997|PMID:20831745|PMID:21294614|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:33067351|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:32716568|PMID:32724039|PMID:33067351|PMID:33606809|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15609345|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23354516|PMID:23921927|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:31712784|PMID:32191290|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:35264596|PMID:35449021|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15609345|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20113402|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23354516|PMID:23921927|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:31712784|PMID:32191290|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:35264596|PMID:35449021|PMID:37805627|PMID:37980418|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15609345|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20113402|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23354516|PMID:23806086|PMID:23921927|PMID:24033266|PMID:24088041|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25687216|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:31712784|PMID:32191290|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:35264596|PMID:35449021|PMID:37805627|PMID:37980418|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15609345|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20113402|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23354516|PMID:23921927|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:31712784|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:35264596|PMID:35449021|PMID:36451132|PMID:37805627|PMID:37980418|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11085592|PMID:11448944|PMID:11668501|PMID:11756419|PMID:11779178|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:12807969|PMID:1479598|PMID:15609345|PMID:15635074|PMID:15684865|PMID:15692946|PMID:16199547|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17330926|PMID:17576681|PMID:18033041|PMID:18173316|PMID:18766994|PMID:19234911|PMID:19249154|PMID:20113402|PMID:20553997|PMID:20831745|PMID:21294614|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:22325036|PMID:22703879|PMID:22711605|PMID:23196945|PMID:23354516|PMID:23921927|PMID:24033266|PMID:24595234|PMID:24728327|PMID:24815379|PMID:25525159|PMID:25567352|PMID:25741868|PMID:25798586|PMID:25801821|PMID:25931164|PMID:26031996|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27128293|PMID:27600092|PMID:27704245|PMID:27930734|PMID:28365909|PMID:28492532|PMID:28526081|PMID:29316957|PMID:29409008|PMID:29489754|PMID:29625052|PMID:29641532|PMID:29685074|PMID:29761250|PMID:29781505|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31089872|PMID:31273341|PMID:31296571|PMID:31370276|PMID:31712784|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:34424918|PMID:35264596|PMID:35449021|PMID:36451132|PMID:37805627|PMID:37980418|PMID:7535084|PMID:7759081|PMID:7868131|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8081368|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8797533|PMID:8882871|PMID:8889506|PMID:9425229|PMID:9430655|PMID:9466988|PMID:9536098|PMID:9605590|PMID:9643284|PMID:9718334|PMID:9884492
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:10712203|PMID:10970839|PMID:11448944|PMID:11756419|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:15635074|PMID:15684865|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17431981|PMID:17576681|PMID:18033041|PMID:18670066|PMID:19234911|PMID:19249154|PMID:20113402|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:24033266|PMID:24815379|PMID:25525159|PMID:25741868|PMID:25801821|PMID:25931164|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27704245|PMID:27930734|PMID:28492532|PMID:29316957|PMID:29409008|PMID:29469988|PMID:29641532|PMID:29761250|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31273341|PMID:31296571|PMID:31615938|PMID:31712784|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:34424918|PMID:35101336|PMID:35264596|PMID:35332608|PMID:35372080|PMID:35449021|PMID:37087513|PMID:37805627|PMID:37980418|PMID:38456936|PMID:40249415|PMID:7535084|PMID:7711726|PMID:7759081|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8882871|PMID:9425229|PMID:9430655|PMID:9536098|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11448944|PMID:11756419|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:15635074|PMID:15684865|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17431981|PMID:17576681|PMID:18033041|PMID:18670066|PMID:19234911|PMID:19249154|PMID:20113402|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:24033266|PMID:24815379|PMID:25525159|PMID:25741868|PMID:25801821|PMID:25931164|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27704245|PMID:27930734|PMID:28492532|PMID:29316957|PMID:29409008|PMID:29469988|PMID:29641532|PMID:29761250|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31273341|PMID:31296571|PMID:31615938|PMID:31712784|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:34424918|PMID:35101336|PMID:35264596|PMID:35332608|PMID:35372080|PMID:35449021|PMID:37087513|PMID:37805627|PMID:37980418|PMID:38456936|PMID:7535084|PMID:7711726|PMID:7759081|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8882871|PMID:9425229|PMID:9430655|PMID:9536098|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10712203|PMID:10970839|PMID:11448944|PMID:11756419|PMID:11809806|PMID:11838794|PMID:11856822|PMID:12566519|PMID:15635074|PMID:15684865|PMID:16199547|PMID:16509493|PMID:16532029|PMID:16983642|PMID:17222329|PMID:17431981|PMID:17576681|PMID:18033041|PMID:18670066|PMID:19234911|PMID:19249154|PMID:20113402|PMID:21563229|PMID:21671232|PMID:22012890|PMID:22081132|PMID:24033266|PMID:24815379|PMID:25525159|PMID:25741868|PMID:25801821|PMID:25931164|PMID:26045165|PMID:26066488|PMID:26073919|PMID:26332594|PMID:26343386|PMID:26467025|PMID:27704245|PMID:27930734|PMID:28492532|PMID:29316957|PMID:29409008|PMID:29469988|PMID:29641532|PMID:29761250|PMID:30122282|PMID:30306255|PMID:30553997|PMID:30833958|PMID:31273341|PMID:31296571|PMID:31615938|PMID:31712784|PMID:32716568|PMID:32724039|PMID:33058421|PMID:33067351|PMID:3313277|PMID:33606809|PMID:34285798|PMID:34424918|PMID:35101336|PMID:35264596|PMID:35332608|PMID:35372080|PMID:35449021|PMID:37087513|PMID:37805627|PMID:37980418|PMID:38456936|PMID:7535084|PMID:7711726|PMID:7759081|PMID:7913580|PMID:7951231|PMID:8012353|PMID:8230593|PMID:8379998|PMID:8698340|PMID:8751853|PMID:8755919|PMID:8882871|PMID:9425229|PMID:9430655|PMID:9536098|PMID:9643284
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9007209	Somatic Meningioma		ISO	RGD:731858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MENINGIOMA, SOMATIC	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9009121	lung metastasis		ISO	RGD:731858	D	RGD:9068941	20211217	RGD		associated with hepatocellular carcinoma	PMID:26443326|REF_RGD_ID:11076529
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731858	D	RGD:9068941	20211217	RGD		DNA:loss of heterozygosity	PMID:11123422|REF_RGD_ID:150530507
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:9256	colorectal cancer		ISO	RGD:731858	D	RGD:9068941	20211217	RGD		DNA:loss of heterozygosity	PMID:24323642|REF_RGD_ID:150530506
12132330	NF2	NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor	gene	DOID:962	neurofibroma		ISO	RGD:731858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurofibroma	PMID:12566519|PMID:16983642|PMID:18033041|PMID:25741868|PMID:27704245|PMID:28492532|PMID:28737257|PMID:35101336|PMID:7913580|PMID:8379998|PMID:9391890|PMID:9643284
12132359	MFAP5	microfibril associated protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132359	MFAP5	microfibril associated protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132359	MFAP5	microfibril associated protein 5	gene	DOID:11830	myopia		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:1324	lung cancer		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12132359	MFAP5	microfibril associated protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317391	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25434006|PMID:25741868
12132359	MFAP5	microfibril associated protein 5	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:1317391	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:25434006|PMID:25741868|PMID:28492532|PMID:29618732|PMID:33824467
12132359	MFAP5	microfibril associated protein 5	gene	DOID:1596	depressive disorder		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:3275	thymoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1317391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12132359	MFAP5	microfibril associated protein 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132359	MFAP5	microfibril associated protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132359	MFAP5	microfibril associated protein 5	gene	DOID:65	connective tissue disease		ISO	RGD:1317391	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9005077	Joint Instability		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9006654	Familial Thoracic Aortic Aneurysm 9		ISO	RGD:1317391	D	RGD:7240710	20180130	OMIM			
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9006654	Familial Thoracic Aortic Aneurysm 9		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 9 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9 | ClinVar Annotator: match by term: MFAP5-related condition	PMID:25434006|PMID:25741868|PMID:26854089|PMID:28492532|PMID:28550590|PMID:30739908
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9007614	Paroxysmal Atrial Fibrillation		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: paroxysmal atrial fibrillation	PMID:25741868
12132359	MFAP5	microfibril associated protein 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0060058	lymphoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1604372	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0110717	Warburg micro syndrome 2		ISO	RGD:1604372	D	RGD:7240710	20180130	OMIM			
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0110717	Warburg micro syndrome 2		ISO	RGD:1604372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICRO SYNDROME 2 | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 2 | ClinVar Annotator: match by term: Warburg micro syndrome 2	PMID:16199547|PMID:20967465|PMID:23420520|PMID:24033266|PMID:25533962|PMID:25741868|PMID:28492532|PMID:32870266
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1604372	D	RGD:7240710	20180130	OMIM			
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:0111586	Martsolf syndrome 1		ISO	RGD:1604372	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARTSOLF SYNDROME 1 | ClinVar Annotator: match by term: Martsolf syndrome 1	PMID:23420520|PMID:24891604|PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10629	microphthalmia		ISO	RGD:1604372	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:10907	microcephaly		ISO	RGD:1604372	D	RGD:8554872	20250114	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:13938	amenorrhea		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:28492532|PMID:32870266
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:3275	thymoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604372	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:674	cleft palate		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9006949	Martsolf Syndrome		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract mental retardation hypogonadism | ClinVar Annotator: match by term: Martsolf syndrome	PMID:16199547|PMID:17576681|PMID:23420520|PMID:24033266|PMID:25533962|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29419336|PMID:32870266|PMID:9536098
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008498	Tracheoesophageal Fistula		ISO	RGD:1604372	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tracheoesophageal Fistula	PMID:32641753
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008539	Perinatal Death		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal death	PMID:25741868
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008811	Tachypnea		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12132377	RAB3GAP2	RAB3 GTPase activating non-catalytic protein subunit 2	gene	DOID:9296	cleft lip		ISO	RGD:1604372	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip	PMID:25741868
12132418	SNRPN	small nuclear ribonucleoprotein polypeptide N	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:735464	D	RGD:9068941	20250724	MouseDO		OMIM:176270	
12132418	SNRPN	small nuclear ribonucleoprotein polypeptide N	gene	DOID:11983	Prader-Willi syndrome	susceptibility	ISO	RGD:1343749	D	RGD:9068941	20200609	RGD		DNA:deletion	PMID:8723064|REF_RGD_ID:1601354
12132418	SNRPN	small nuclear ribonucleoprotein polypeptide N	gene	DOID:12849	autistic disorder		ISO	RGD:1343749	D	RGD:8554872	20250423	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12132418	SNRPN	small nuclear ribonucleoprotein polypeptide N	gene	DOID:1932	Angelman syndrome		ISO	RGD:735464	D	RGD:9068941	20250724	MouseDO		OMIM:105830	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:1320737	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Lennox-Gastaut syndrome	PMID:25741868
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1616514	D	RGD:9068941	20220825	MouseDO		OMIM:214800	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320737	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset	PMID:15988005|PMID:16199547|PMID:17576681|PMID:22178256|PMID:23708187|PMID:24207121|PMID:24932903|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31170314|PMID:31440721|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0060475	myoclonic-atonic epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Epileptic encephalopathy, childhood-onset	PMID:16199547|PMID:17576681|PMID:22178256|PMID:23708187|PMID:24207121|PMID:24932903|PMID:25741868|PMID:25783594|PMID:26467025|PMID:28492532|PMID:28960266|PMID:31170314|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:35774528|PMID:39035822|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1320737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder | ClinVar Annotator: match by term: complex neurodevelopmental disorder	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25326635|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:29358611|PMID:30525188|PMID:31618753|PMID:31677157|PMID:34713950
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1320737	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0081325	developmental and epileptic encephalopathy 94		ISO	RGD:1320737	D	RGD:7240710	20210421	OMIM			
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0081325	developmental and epileptic encephalopathy 94		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHD2-related disorder | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 94	PMID:16199547|PMID:17576681|PMID:22178256|PMID:22495311|PMID:23020937|PMID:23708187|PMID:24207121|PMID:24614520|PMID:24834135|PMID:24859339|PMID:24932903|PMID:25262651|PMID:25326635|PMID:25363768|PMID:25384982|PMID:25418537|PMID:25640679|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26677509|PMID:26754451|PMID:26795593|PMID:27781031|PMID:27824329|PMID:28191889|PMID:28492532|PMID:28910737|PMID:28960266|PMID:29455050|PMID:29720203|PMID:29740950|PMID:29758562|PMID:29933521|PMID:30525188|PMID:30564305|PMID:30868116|PMID:31031587|PMID:31170314|PMID:31332282|PMID:31440721|PMID:31526516|PMID:31618753|PMID:31677157|PMID:31785789|PMID:31981491|PMID:32005694|PMID:32238909|PMID:33004838|PMID:33176815|PMID:33584793|PMID:33619735|PMID:34713950|PMID:34926809|PMID:35222528|PMID:35774528|PMID:36034301|PMID:38003033|PMID:38088023|PMID:39035822|PMID:41383239|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0111162	epidermal nevus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1320737	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:10283	prostate cancer		ISO	RGD:1320737	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25384982|PMID:25741868|PMID:28166811|PMID:28492532|PMID:9326634|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15988005|PMID:17576681|PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28554332|PMID:31273778|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17576681|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:28492532|PMID:28554332|PMID:31273778|PMID:31677157|PMID:31785789|PMID:33004838|PMID:33176815|PMID:34713950|PMID:9536098
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:11830	myopia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157|PMID:9326634
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1824	status epilepticus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:28960266
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15988005|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31677157
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:15988005|PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26467025|PMID:26754451|PMID:26795593|PMID:28074849|PMID:28492532|PMID:28960266|PMID:31677157|PMID:35774528|PMID:39035822
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1891	optic nerve disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:255	hemangioma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:3307	teratoma		ISO	RGD:1320737	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Teratoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:480	movement disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23020937|PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26073591|PMID:26467025|PMID:28492532|PMID:28960266|PMID:31677157|PMID:31785789|PMID:33004838|PMID:35774528|PMID:39035822|PMID:39508407|PMID:8232556|PMID:9326634|PMID:9536098|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1320737	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:8927	learning disability		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9001722	Dysarthria		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25384982|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9002916	Hyperphagia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23708187|PMID:24207121|PMID:24614520|PMID:25741868|PMID:25783594|PMID:26754451|PMID:28492532|PMID:31677157
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9003539	Hyperacusis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320737	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28960266
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:28960266|PMID:31677157|PMID:35774528|PMID:39035822
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9004866	Ataxia		ISO	RGD:1320737	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9004898	Jaundice		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	PMID:23708187|PMID:24207121|PMID:25741868|PMID:26467025|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:23708187|PMID:24207121|PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9007917	Supernumerary Tooth		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Teeth, supernumerary	PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:23708187|PMID:24207121|PMID:25384982|PMID:25741868|PMID:28492532|PMID:8232556|PMID:9326634|PMID:9565609
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:936	brain disease		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12132429	CHD2	chromodomain helicase DNA binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1320737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25384982|PMID:8232556|PMID:9326634|PMID:9565609
12132488	SDF4	stromal cell derived factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:5419	schizophrenia		ISO	RGD:731601	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12132488	SDF4	stromal cell derived factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132488	SDF4	stromal cell derived factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1313863	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313863	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12132503	RHPN1	rhophilin Rho GTPase binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132522	EML4	EMAP like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132522	EML4	EMAP like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132522	EML4	EMAP like 4	gene	DOID:1115	sarcoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132522	EML4	EMAP like 4	gene	DOID:1324	lung cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132522	EML4	EMAP like 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132522	EML4	EMAP like 4	gene	DOID:3275	thymoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132522	EML4	EMAP like 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1351948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625570|PMID:21757253|PMID:21767331|PMID:22568572|PMID:22617245|PMID:22986231
12132522	EML4	EMAP like 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22980554|PMID:22999080
12132522	EML4	EMAP like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132522	EML4	EMAP like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132522	EML4	EMAP like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351948	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132522	EML4	EMAP like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132522	EML4	EMAP like 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12132522	EML4	EMAP like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132522	EML4	EMAP like 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1351948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231|PMID:22999080
12132522	EML4	EMAP like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132522	EML4	EMAP like 4	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1351948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22986231
12132522	EML4	EMAP like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132522	EML4	EMAP like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132522	EML4	EMAP like 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1351948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:0070532	aniridia 1		ISO	RGD:1352223	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Aniridia 1	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:11599116|RGD:11599246|RGD:11599264|RGD:11599292|RGD:11599475|RGD:11600178|RGD:11600268|RGD:11600279|RGD:11600325|RGD:11600473|RGD:11600671|RGD:11600825|RGD:11600949|RGD:11601140|RGD:11601286|RGD:11601429|RGD:11601655|RGD:11602169|RGD:11612602|RGD:11612625|RGD:11612694|RGD:11612749|RGD:11612809|RGD:11612815|RGD:11612860|RGD:11612938|RGD:11613302|RGD:11613311|RGD:11613818|RGD:11613985|RGD:11614013|RGD:11614267|RGD:11614362|RGD:11614735|RGD:11615188|RGD:11615469|RGD:11616152|RGD:11616600|RGD:11617002|RGD:11644438|RGD:11644607|RGD:11644638|RGD:11645271|RGD:11645555|RGD:11645677|RGD:11647215|RGD:11647264|RGD:11647995|RGD:11648214|RGD:11649020|RGD:11649667|RGD:11650342|RGD:11650548|RGD:11651004|RGD:28897959|RGD:28898733|RGD:28899237|RGD:28899455|RGD:28899463|RGD:28900461|RGD:28900718|RGD:28901188|RGD:28901676|RGD:28901903|RGD:28901911|RGD:28902607|RGD:28902613|RGD:28903621|RGD:28905116|RGD:28905459|RGD:28905636|RGD:28906088|RGD:28906724|RGD:28907072|RGD:28907401|RGD:28907541|RGD:28907688|RGD:28907887|RGD:28908458|RGD:28909141|RGD:28909332|RGD:28909341	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:12271	aniridia		ISO	RGD:1352223	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:14515	WAGR syndrome		ISO	RGD:1352223	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: WAGR Complex	PMID:25741868|PMID:28492532
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:3070	high grade glioma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1352223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:7240710	20190327	OMIM			
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:9003911	Aniridia 2		ISO	RGD:1352223	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Aniridia 2 | ClinVar Annotator: match by term: ELP4-related condition	PMID:25741868|PMID:26010655|PMID:28492532
12132556	ELP4	elongator acetyltransferase complex subunit 4	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1352223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12132572	FNBP4	formin binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132572	FNBP4	formin binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132572	FNBP4	formin binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132572	FNBP4	formin binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:3070	high grade glioma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132572	FNBP4	formin binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132572	FNBP4	formin binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132572	FNBP4	formin binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132572	FNBP4	formin binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132572	FNBP4	formin binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132572	FNBP4	formin binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1319467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12132600	ATG2A	autophagy related 2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:10534	stomach cancer		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132600	ATG2A	autophagy related 2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132600	ATG2A	autophagy related 2A	gene	DOID:1115	sarcoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:1324	lung cancer		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132600	ATG2A	autophagy related 2A	gene	DOID:1909	melanoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:3070	high grade glioma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132600	ATG2A	autophagy related 2A	gene	DOID:3275	thymoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132600	ATG2A	autophagy related 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1604391	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132600	ATG2A	autophagy related 2A	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604391	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12132600	ATG2A	autophagy related 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:6039	uveal melanoma		ISO	RGD:1604391	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132600	ATG2A	autophagy related 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132600	ATG2A	autophagy related 2A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132600	ATG2A	autophagy related 2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604391	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132645	ECSIT	ECSIT signaling integrator	gene	DOID:4362	cervical cancer		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132645	ECSIT	ECSIT signaling integrator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132645	ECSIT	ECSIT signaling integrator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132645	ECSIT	ECSIT signaling integrator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602709	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132661	CDC25B	cell division cycle 25B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1604653	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:14559803|REF_RGD_ID:4105451
12132661	CDC25B	cell division cycle 25B	gene	DOID:10283	prostate cancer		ISO	RGD:1604653	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:12569365|REF_RGD_ID:4105454
12132661	CDC25B	cell division cycle 25B	gene	DOID:10534	stomach cancer		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132661	CDC25B	cell division cycle 25B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132661	CDC25B	cell division cycle 25B	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1604653	D	RGD:9068941	20200609	RGD			PMID:19383904|REF_RGD_ID:2739695
12132661	CDC25B	cell division cycle 25B	gene	DOID:1115	sarcoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:1324	lung cancer		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132661	CDC25B	cell division cycle 25B	gene	DOID:1380	endometrial cancer		ISO	RGD:1604653	D	RGD:9068941	20200609	RGD			PMID:14559803|REF_RGD_ID:4105451
12132661	CDC25B	cell division cycle 25B	gene	DOID:1909	melanoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:2101	vulva squamous cell carcinoma	disease_progression	ISO	RGD:1604653	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:20500813|REF_RGD_ID:2729590
12132661	CDC25B	cell division cycle 25B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:3275	thymoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1604653	D	RGD:9068941	20200609	RGD			PMID:15550849|REF_RGD_ID:4105449
12132661	CDC25B	cell division cycle 25B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132661	CDC25B	cell division cycle 25B	gene	DOID:5041	esophageal cancer		ISO	RGD:1604653	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132661	CDC25B	cell division cycle 25B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132661	CDC25B	cell division cycle 25B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132661	CDC25B	cell division cycle 25B	gene	DOID:9000918	Disease Progression		ISO	RGD:1604653	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:39180863
12132661	CDC25B	cell division cycle 25B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1604653	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:39180863
12132661	CDC25B	cell division cycle 25B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1604653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12132661	CDC25B	cell division cycle 25B	gene	DOID:9775	diastolic heart failure		ISO	RGD:1604653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1349804	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dextro-looped transposition of the great arteries	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:0080600	COVID-19		ISO	RGD:1349804	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:10534	stomach cancer		ISO	RGD:1349804	D	RGD:9068941	20220324	RGD			PMID:32066878|REF_RGD_ID:151665490
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1349804	D	RGD:9068941	20220324	RGD			PMID:32066878|REF_RGD_ID:151665490
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:1115	sarcoma		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:1790	malignant mesothelioma	ameliorates	ISO	RGD:1349804	D	RGD:9068941	20220324	RGD			PMID:30061637|REF_RGD_ID:151665492
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:1793	pancreatic cancer		ISO	RGD:1349804	D	RGD:7240710	20230628	OMIM			
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:3908	lung non-small cell carcinoma	susceptibility	ISO	RGD:1349804	D	RGD:9068941	20220324	RGD		DNA:SNP:intron:rs12809597(human)	PMID:22586632|REF_RGD_ID:151665491
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:4362	cervical cancer		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1349804	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:25741868
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1349804	D	RGD:9068941	20220324	RGD			PMID:33880365|REF_RGD_ID:151665493
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:735207	D	RGD:9068941	20220324	RGD			PMID:9013782|REF_RGD_ID:151665480
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735207	D	RGD:9068941	20200609	RGD			PMID:14993131|REF_RGD_ID:1580888
12132691	ACVR1B	activin A receptor type 1B	gene	DOID:9008114	Helicobacter Infections	disease_progression	ISO	RGD:1349804	D	RGD:9068941	20220324	RGD		associated with stomach cancer;mRNA:increased expression:stomach:	PMID:32066878|REF_RGD_ID:151665490
12132711	PKD2L1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132711	PKD2L1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:10283	prostate cancer		ISO	RGD:1314779	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12132711	PKD2L1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:10283	prostate cancer		ISO	RGD:1314779	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12132711	PKD2L1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:1324	lung cancer		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132711	PKD2L1	polycystin 2 like 1, transient receptor potential cation channel	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0050741	alcohol dependence	ameliorates	ISO	RGD:735685	D	RGD:9068941	20240411	RGD			PMID:33955100|REF_RGD_ID:405649731
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:621531	D	RGD:9068941	20240229	RGD		heroin withdrawal disorder;protein:increased phosphorylation:multiple (rat)	PMID:19084907|REF_RGD_ID:401976470
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:621531	D	RGD:9068941	20240328	RGD		benzodiazepine withdrawal;protein:increased expression:hippocampal formation, synapse (rat)	PMID:18924138|REF_RGD_ID:405100713
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11404432|PMID:12511956
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060001	withdrawal disorder	ameliorates	ISO	RGD:621531	D	RGD:9068941	20240328	RGD		cocaine withdrawal	PMID:12511956|REF_RGD_ID:728494
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0060043	sexual health disorder		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19295509
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0061040	autosomal dominant intellectual developmental disorder 67		ISO	RGD:731547	D	RGD:7240710	20220720	OMIM			
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0061040	autosomal dominant intellectual developmental disorder 67		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 67 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 67	PMID:23033978|PMID:25741868|PMID:26749308|PMID:27363847|PMID:28628100|PMID:31332282|PMID:35675825|PMID:38890806|PMID:41018689
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:731547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1	PMID:25741868
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0081235	autosomal recessive intellectual developmental disorder 76		ISO	RGD:731547	D	RGD:7240710	20220720	OMIM			
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0081235	autosomal recessive intellectual developmental disorder 76		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRIA1-related condition | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 76	PMID:23033978|PMID:25741868|PMID:28492532|PMID:28628100
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:621531	D	RGD:9068941	20240404	RGD		protein:increased phosphorylation:central amygdaloid nucleus (rat)	PMID:30638118|REF_RGD_ID:405101698
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23033978|PMID:25741868|PMID:28628100
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:23033978|PMID:25741868|PMID:28628100
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus, synaptosome (rat)	PMID:19450629|REF_RGD_ID:4108489
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1561	cognitive disorder	treatment	ISO	RGD:735685	D	RGD:9068941	20240328	RGD			PMID:23949198|REF_RGD_ID:405100239
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:621531	D	RGD:9068941	20240502	RGD		protein:increased expression:nucleus accumbens (rat)	PMID:21041654|REF_RGD_ID:405650686
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:621531	D	RGD:9068941	20240509	RGD		protein:decreased expression:neocortex (rat)	PMID:12036520|REF_RGD_ID:405820203
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:621531	D	RGD:9068941	20240509	RGD		protein:increased expression, increased phosphorylation:cingulate cortex (rat)	PMID:34280506|REF_RGD_ID:405818275
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:735685	D	RGD:9068941	20240328	RGD		protein:increased phosphorylation:lumbar spinal cord (mouse)	PMID:28585190|REF_RGD_ID:405100727
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:735685	D	RGD:9068941	20240509	RGD		protein:increased expression:nucleus accumbens (mouse)	PMID:21041654|REF_RGD_ID:405650686
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:735685	D	RGD:9068941	20240523	RGD			PMID:32048672|REF_RGD_ID:405849038
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1824	status epilepticus		ISO	RGD:621531	D	RGD:9068941	20200609	RGD			PMID:25457025|REF_RGD_ID:13792697
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1824	status epilepticus		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (rat)	PMID:19914343|REF_RGD_ID:4107719
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:19154779|REF_RGD_ID:2326034
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:1826	epilepsy		ISO	RGD:731547	D	RGD:9068941	20240418	RGD			PMID:16142284|REF_RGD_ID:405649738
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240229	RGD			PMID:25716866|REF_RGD_ID:401976466
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240321	RGD		protein:increased phosphorylation:nucleus accumbens (rat)	PMID:24201449|REF_RGD_ID:405096668
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240404	RGD		rat gene in a mouse model	PMID:22072679|REF_RGD_ID:405101690
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240418	RGD		protein:altered expression:prefrontal cortex, membrane (rat)	PMID:31209728|REF_RGD_ID:405649863
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240418	RGD		protein:decreased phosphorylation:caudate-putamen, nucleus accumbens (rat)	PMID:15287884|REF_RGD_ID:405650198
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:621531	D	RGD:9068941	20240509	RGD		protein:increased expression:shell of nucleus accumbens, cell surface (rat)	PMID:25746394|REF_RGD_ID:11087075
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11404432
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence	exacerbates	ISO	RGD:621531	D	RGD:9068941	20240328	RGD			PMID:31863796|REF_RGD_ID:405100238
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:621531	D	RGD:9068941	20240509	RGD			PMID:16775132|PMID:32717192|PMID:34390773|REF_RGD_ID:405100728|REF_RGD_ID:405649739|REF_RGD_ID:405818276
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:4481	allergic rhinitis		ISO	RGD:731547	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624383
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:5418	schizoaffective disorder		ISO	RGD:735685	D	RGD:9068941	20220825	MouseDO			
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:630	genetic disease		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:670	amphetamine abuse		ISO	RGD:621531	D	RGD:9068941	20240328	RGD		methamphetamine abuse;protein:increased expression:hippocampal formation, striatum, prefrontal cortex (rat)	PMID:37778205|REF_RGD_ID:405100237
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:809	cocaine abuse		ISO	RGD:621531	D	RGD:9068941	20240418	RGD		protein:increased expression:nucleus accumbens (rat)	PMID:11801363|REF_RGD_ID:405650201
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:809	cocaine abuse		ISO	RGD:735685	D	RGD:9068941	20240418	RGD		protein:decreased expression:nucleus accumbens (mouse)	PMID:22197517|REF_RGD_ID:405650197
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:809	cocaine abuse	sexual_dimorphism	ISO	RGD:735685	D	RGD:9068941	20240229	RGD		protein:increased expression:prefrontal cortex (mouse)	PMID:33497752|REF_RGD_ID:401976469
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:8927	learning disability		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16495937
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:621531	D	RGD:9068941	20241205	RGD		protein:decrease expression: dentate gyrus (rat)	PMID:25129673|REF_RGD_ID:405100726
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:735685	D	RGD:9068941	20240425	RGD			PMID:27816787|REF_RGD_ID:405650587
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortical neuron (rat)	PMID:20398734|REF_RGD_ID:4107070
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18171924|PMID:19036973
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:621531	D	RGD:9068941	20240502	RGD		protein:increased phosphorylation:lateral habenular nucleus (rat)	PMID:28865912|REF_RGD_ID:405650672
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:23033978|PMID:25741868|PMID:28628100
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9003736	Central Nervous System Viral Diseases		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus (rat)	PMID:19660546|REF_RGD_ID:2325963
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621531	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:20408958|REF_RGD_ID:4107069
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9004042	Olfaction Disorders		ISO	RGD:731547	D	RGD:9068941	20220707	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624383
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731547	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:621531	D	RGD:9068941	20240328	RGD		mRNA:altered expression:cerebral cortex, hippocampus (rat)	PMID:10822164|REF_RGD_ID:405100240
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:621531	D	RGD:9068941	20240404	RGD		protein:increased phosphorylation:hippocampal formation, postsynaptic density (rat)	PMID:19077125|REF_RGD_ID:405101691
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14684464|PMID:15764012|PMID:16495937|PMID:18430032|PMID:18486119
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9006024	Hypotension		ISO	RGD:731547	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18639534
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621531	D	RGD:9068941	20241214	RGD		mRNA:increased expression:hippocampus (rat)	PMID:19666089|REF_RGD_ID:4107726
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731547	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23033978|PMID:25741868|PMID:28628100
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9279	hyperhomocysteinemia	treatment	ISO	RGD:621531	D	RGD:9068941	20200609	RGD			PMID:25457025|REF_RGD_ID:13792697
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:621531	D	RGD:9068941	20240321	RGD			PMID:18430032|REF_RGD_ID:405096666
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:621531	D	RGD:9068941	20240411	RGD		protein:increased expression:ventral tegmental area (rat)	PMID:29196318|REF_RGD_ID:405649733
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:621531	D	RGD:9068941	20240425	RGD		protein:increased phosphorylation:prefrontal cortex, premotor cortex (rat)	PMID:17439498|REF_RGD_ID:405650586
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:621531	D	RGD:9068941	20240509	RGD		protein:increased expression:nucleus accumbens cell surface (rat)	PMID:16207873|REF_RGD_ID:405818274
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:621531	D	RGD:9068941	20241107	RGD		protein:increased expression:nucleus accumbens (rat)	PMID:18500330|PMID:22127928|REF_RGD_ID:405820210|REF_RGD_ID:408364954
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:735685	D	RGD:9068941	20240411	RGD		protein:increased phosphorylation:hippocampal formation (mouse)	PMID:18554320|REF_RGD_ID:405649734
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:735685	D	RGD:9068941	20240509	RGD		protein:increased expression, increased phosphorylation:hippocampal formation, postsynaptic density (mouse)	PMID:29089442|REF_RGD_ID:405818277
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence	exacerbates	ISO	RGD:621531	D	RGD:9068941	20240328	RGD			PMID:21613507|REF_RGD_ID:405100712
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:621531	D	RGD:9068941	20240516	RGD			PMID:16794574|PMID:25539504|PMID:28495973|REF_RGD_ID:405649730|REF_RGD_ID:405650670|REF_RGD_ID:405820206
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9976	heroin dependence		ISO	RGD:731547	D	RGD:9068941	20240321	RGD		mRNA:increased expression:ventral striatum (human)	PMID:27863698|REF_RGD_ID:405096665
12132734	GRIA1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:621531	D	RGD:9068941	20240404	RGD			PMID:19940171|REF_RGD_ID:4107717
12132734	Gria1	glutamate ionotropic receptor AMPA type subunit 1	gene	DOID:9005111	morphine withdrawal syndrome		ISO	RGD:621531	D	RGD:9068941	20240229	RGD		associated with Pain;protein:increased expression:central amygdaloid nucleus (rat)	PMID:25716866|REF_RGD_ID:401976466
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:1909	melanoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603950	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132756	C6H7orf50	chromosome 6 C7orf50 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603950	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132798	C2H5orf46	chromosome 2 C5orf46 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132798	C2H5orf46	chromosome 2 C5orf46 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132798	C2H5orf46	chromosome 2 C5orf46 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605197	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1314594	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:12849	autistic disorder		ISO	RGD:1314594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:1324	lung cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314594	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:6039	uveal melanoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132806	PASK	PAS domain containing serine/threonine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132843	IL20RB	interleukin 20 receptor subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132843	IL20RB	interleukin 20 receptor subunit beta	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1623828	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple	PMID:18246602|REF_RGD_ID:5037232
12132843	IL20RB	interleukin 20 receptor subunit beta	gene	DOID:2394	ovarian cancer		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12132843	IL20RB	interleukin 20 receptor subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132858	TSPAN2	tetraspanin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12132858	TSPAN2	tetraspanin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132858	TSPAN2	tetraspanin 2	gene	DOID:0051061	stroke		ISO	RGD:1344307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12132858	TSPAN2	tetraspanin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12132858	TSPAN2	tetraspanin 2	gene	DOID:1324	lung cancer		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12132858	TSPAN2	tetraspanin 2	gene	DOID:3275	thymoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12132858	TSPAN2	tetraspanin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132858	TSPAN2	tetraspanin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132858	TSPAN2	tetraspanin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132858	TSPAN2	tetraspanin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132858	TSPAN2	tetraspanin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132858	TSPAN2	tetraspanin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:11077	brucellosis		ISO	RGD:3279	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spleen	PMID:17397885|REF_RGD_ID:2302429
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:1115	sarcoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:12849	autistic disorder		ISO	RGD:737080	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18090323
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:1324	lung cancer		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:4362	cervical cancer		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:5041	esophageal cancer		ISO	RGD:737080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3279	D	RGD:9068941	20241214	RGD			PMID:16190900|REF_RGD_ID:2302430
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12132872	PDE4A	phosphodiesterase 4A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12132918	CLEC4A	C-type lectin domain family 4, member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12132918	CLEC4A	C-type lectin domain family 4, member A	gene	DOID:1205	allergic disease		ISO	RGD:1352867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23624239
12132918	CLEC4A	C-type lectin domain family 4, member A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12132918	CLEC4A	C-type lectin domain family 4, member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352867	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12132918	CLEC4A	C-type lectin domain family 4, member A	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352867	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12132965	CNIH1	cornichon family AMPA receptor auxiliary protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322345	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:7240710	20221214	OMIM			
12133096	LGI3	leucine rich repeat LGI family member 3	gene	DOID:9008164	INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS		ISO	RGD:1322345	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS | ClinVar Annotator: match by term: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects | ClinVar Annotator: match by term: LGI3-related condition | ClinVar Annotator: match by term: Peripheral nerve hyperexcitability syndrome	PMID:25741868|PMID:28492532
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:17357069|PMID:25741868|PMID:27657687|PMID:28492532
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:62234	D	RGD:9068941	20230330	RGD			PMID:25691540|REF_RGD_ID:243048427
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:0111145	ureteropelvic junction obstruction		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ureteropelvic junction obstruction	PMID:25741868|PMID:27657687|PMID:28492532
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:11111	hydronephrosis		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868|PMID:27657687|PMID:28492532
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:12849	autistic disorder		ISO	RGD:736256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18270976
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:1657	ventricular septal defect		ISO	RGD:62234	D	RGD:9068941	20230330	RGD			PMID:25691540|REF_RGD_ID:243048427
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620167	D	RGD:9068941	20230330	RGD		protein:increased expression:brain, astrocyte	PMID:27686659|REF_RGD_ID:243048429
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:3275	thymoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:736256	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:630	genetic disease		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:34906515
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620167	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16262652|REF_RGD_ID:2316136
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:736256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9003734	Vesicoureteral Reflux 2		ISO	RGD:736256	D	RGD:7240710	20180130	OMIM			
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9003734	Vesicoureteral Reflux 2		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ROBO2-related condition | ClinVar Annotator: match by term: VESICOURETERAL REFLUX 2 | ClinVar Annotator: match by term: Vesicoureteral reflux 2 | ClinVar Annotator: match by term: vesicoureteral reflux 2	PMID:17357069|PMID:18235093|PMID:22558067|PMID:23536131|PMID:25741868|PMID:26214590|PMID:26359337|PMID:26489027|PMID:26997480|PMID:27657687|PMID:27993330|PMID:28467829|PMID:28492532|PMID:38012624
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12133108	ROBO2	roundabout guidance receptor 2	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:736256	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	PMID:17357069|PMID:25741868
12133188	RIGI	RNA sensor RIG-I	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:10534	stomach cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:1115	sarcoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:1324	lung cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:1883	hepatitis C		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
12133188	RIGI	RNA sensor RIG-I	gene	DOID:1909	melanoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:2365	West Nile encephalitis		ISO	RGD:1319813	D	RGD:9068941	20210423	RGD		mRNA:increased expression:brain	PMID:24173226|REF_RGD_ID:126781836
12133188	RIGI	RNA sensor RIG-I	gene	DOID:3070	high grade glioma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:3275	thymoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:4362	cervical cancer		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:5041	esophageal cancer		ISO	RGD:1319812	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:630	genetic disease		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:8893	psoriasis		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9000371	influenza A		ISO	RGD:1319813	D	RGD:9068941	20210122	RGD		mRNA:increased expression:nasal cavity mucosa (mouse)	PMID:25751630|REF_RGD_ID:40925925
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9000918	Disease Progression		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20170495
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9001488	Human Influenza		ISO	RGD:1319812	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9001499	Orthomyxoviridae Infections		ISO	RGD:1319812	D	RGD:9068941	20221006	CTD		CTD Direct Evidence: marker/mechanism	PMID:25780039
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:7240710	20180130	OMIM			
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9002133	Singleton-Merten Syndrome 2		ISO	RGD:1319812	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RIGI-related condition | ClinVar Annotator: match by term: SINGLETON-MERTEN SYNDROME 2 | ClinVar Annotator: match by term: Singleton-Merten syndrome 2	PMID:19859543|PMID:25741868|PMID:28180316|PMID:28492532|PMID:36228008
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133188	RIGI	RNA sensor RIG-I	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319812	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0050771	pheochromocytoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:22931260|PMID:23418310|PMID:27993330|PMID:28162975
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:22299048|REF_RGD_ID:11041600
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:17322369|REF_RGD_ID:10395372
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0080338	familial erythrocytosis 3		ISO	RGD:68594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Erythrocytosis, familial, 3	PMID:25741868
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0080339	familial erythrocytosis 4		ISO	RGD:68594	D	RGD:7240710	20180130	OMIM			
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:0080339	familial erythrocytosis 4		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EPAS1-related condition | ClinVar Annotator: match by term: ERYTHROCYTOSIS, FAMILIAL, 4 | ClinVar Annotator: match by term: Erythrocytosis, familial, 4	PMID:18184961|PMID:18378852|PMID:18650473|PMID:19208626|PMID:21389259|PMID:22992668|PMID:23716564|PMID:25741868|PMID:27292716|PMID:27651169|PMID:28492532|PMID:29790589|PMID:35484400
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:68594	D	RGD:9068941	20200609	RGD			PMID:11159352|REF_RGD_ID:1580974
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:1115	sarcoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:11650	bronchopulmonary dysplasia	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:23065129|REF_RGD_ID:10395385
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:12450	pancytopenia		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:12750163|REF_RGD_ID:11041567
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:68595	D	RGD:9068941	20220825	MouseDO		OMIM:267450	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:1324	lung cancer		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:14175	von Hippel-Lindau disease		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:22299048|REF_RGD_ID:11041600
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:14227	azoospermia		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:14608355|REF_RGD_ID:734934
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:1909	melanoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:16762988|REF_RGD_ID:10395386
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:3669	intermittent claudication	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:21771896|REF_RGD_ID:10395378
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:68594	D	RGD:9068941	20200609	RGD			PMID:21812995|REF_RGD_ID:10395382
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4195	hyperglycemia		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:17914354|REF_RGD_ID:10395377
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:12750296|REF_RGD_ID:10395373
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:68594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21131975
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:5679	retinal disease		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:14608355|REF_RGD_ID:734934
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:15247145|PMID:18484163|REF_RGD_ID:1580977|REF_RGD_ID:5147886
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:630	genetic disease		ISO	RGD:68594	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18184961|PMID:18378852|PMID:25741868|PMID:28492532|PMID:28667082|PMID:34828399|PMID:34946900
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:16215633|REF_RGD_ID:10395375
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: 2097G>A,p.G537R(human)	PMID:18650473|REF_RGD_ID:11041573
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22992668|PMID:25741868|PMID:28492532|PMID:35484400
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		protein:increased expression:layer of synovial tissue, stromal cell	PMID:12823854|REF_RGD_ID:10395366
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8398	osteoarthritis		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage	PMID:20495569|REF_RGD_ID:10395365
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8398	osteoarthritis		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		protein:increased expression:layer of synovial tissue, stromal cell	PMID:12823854|REF_RGD_ID:10395366
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8398	osteoarthritis		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:20495569|PMID:21869830|REF_RGD_ID:10395364|REF_RGD_ID:10395365
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8432	polycythemia		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds: 2097G>A,p.G537R(human)	PMID:18650473|REF_RGD_ID:11041573
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8432	polycythemia	susceptibility	ISO	RGD:68594	D	RGD:9068941	20200609	RGD		DNA:polymorphisms,haplotype: :rs13419896, rs12619696(human)	PMID:25792003|REF_RGD_ID:11041568
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:8893	psoriasis		ISO	RGD:68594	D	RGD:9068941	20200609	RGD			PMID:17495954|REF_RGD_ID:10395383
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:68404	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney medulla (rat)	PMID:32416216|REF_RGD_ID:401793731
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9000918	Disease Progression		ISO	RGD:68594	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26735578
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:22960363|REF_RGD_ID:10395371
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17914354|REF_RGD_ID:10395377
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:68404	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:17967803|REF_RGD_ID:10395374
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:68594	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr: (rs17039192) (human)	PMID:20495570|REF_RGD_ID:10395368
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9002331	Knee Osteoarthritis	no_association	ISO	RGD:68594	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr: (rs17039192) (human)	PMID:22247019|REF_RGD_ID:10395367
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:14608355|REF_RGD_ID:734934
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:68594	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26735578|PMID:30090327
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9004814	Chromosome Aberrations		ISO	RGD:68594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23333640
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:14608355|REF_RGD_ID:734934
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9005600	Infarction		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:12911537|REF_RGD_ID:10395384
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9005725	Iron Overload	treatment	ISO	RGD:68595	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia;	PMID:24282296|REF_RGD_ID:11041571
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:23603807|REF_RGD_ID:10395381
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9007461	Chronic Lung Allograft Dysfunction		ISO	RGD:68404	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:22305384|REF_RGD_ID:10395369
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68594	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:23333640|PMID:26735578|PMID:30090327
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9007702	Carcinogenesis		ISO	RGD:68594	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26735578
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68404	D	RGD:9068941	20200609	RGD			PMID:17914354|REF_RGD_ID:10395377
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:14608355|REF_RGD_ID:734934
12133234	EPAS1	endothelial PAS domain protein 1	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:68595	D	RGD:9068941	20200609	RGD			PMID:24218148|REF_RGD_ID:11041569
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:4362	cervical cancer		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133258	HSD17B12	hydroxysteroid 17-beta dehydrogenase 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133273	NME6	NME/NM23 nucleoside diphosphate kinase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604057	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:1909	melanoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1604254	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133286	HAUS8	HAUS augmin like complex subunit 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12133301	NBEA	neurobeachin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12133301	NBEA	neurobeachin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323716	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:10534	stomach cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1323716	D	RGD:9068941	20220616	RGD		mRNA:altered expression:stomach tumor (human)	PMID:28035468|REF_RGD_ID:152995287
12133301	NBEA	neurobeachin	gene	DOID:1059	intellectual disability		ISO	RGD:1323716	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133301	NBEA	neurobeachin	gene	DOID:1115	sarcoma		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12133301	NBEA	neurobeachin	gene	DOID:12849	autistic disorder		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:25741868|PMID:30208311
12133301	NBEA	neurobeachin	gene	DOID:1324	lung cancer		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:1826	epilepsy		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:25741868|PMID:30269351
12133301	NBEA	neurobeachin	gene	DOID:1909	melanoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1323716	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12133301	NBEA	neurobeachin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:3275	thymoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12133301	NBEA	neurobeachin	gene	DOID:420	hypertrichosis		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:4362	cervical cancer		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12133301	NBEA	neurobeachin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12133301	NBEA	neurobeachin	gene	DOID:5041	esophageal cancer		ISO	RGD:1323716	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:6039	uveal melanoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133301	NBEA	neurobeachin	gene	DOID:630	genetic disease		ISO	RGD:1323716	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:35852783
12133301	NBEA	neurobeachin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323716	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12133301	NBEA	neurobeachin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323716	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9004635	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY		ISO	RGD:1323716	D	RGD:7240710	20210217	OMIM			
12133301	NBEA	neurobeachin	gene	DOID:9004635	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY		ISO	RGD:1323716	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NBEA-related complex neurodevelopmental disorder | ClinVar Annotator: match by term: NBEA-related condition | ClinVar Annotator: match by term: NBEA-related developmental delay and generalized epilepsy | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without early-onset generalized epilepsy	PMID:12746398|PMID:25741868|PMID:28492532|PMID:30269351|PMID:34412939|PMID:34609286|PMID:35852783|PMID:38958063
12133301	NBEA	neurobeachin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133301	NBEA	neurobeachin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323716	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12133301	NBEA	neurobeachin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133301	NBEA	neurobeachin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12133381	SMTN	smoothelin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133381	SMTN	smoothelin	gene	DOID:0080600	COVID-19		ISO	RGD:1320987	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12133381	SMTN	smoothelin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133381	SMTN	smoothelin	gene	DOID:1115	sarcoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133381	SMTN	smoothelin	gene	DOID:1324	lung cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133381	SMTN	smoothelin	gene	DOID:1909	melanoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133381	SMTN	smoothelin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133381	SMTN	smoothelin	gene	DOID:3275	thymoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133381	SMTN	smoothelin	gene	DOID:4362	cervical cancer		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133381	SMTN	smoothelin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12133381	SMTN	smoothelin	gene	DOID:5041	esophageal cancer		ISO	RGD:1320987	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133381	SMTN	smoothelin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133381	SMTN	smoothelin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133381	SMTN	smoothelin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133381	SMTN	smoothelin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320987	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133381	SMTN	smoothelin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320987	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133417	CCNG2	cyclin G2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133417	CCNG2	cyclin G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133417	CCNG2	cyclin G2	gene	DOID:1115	sarcoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133417	CCNG2	cyclin G2	gene	DOID:11934	head and neck cancer		ISO	RGD:1312769	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:head and neck (human)	PMID:27982046|REF_RGD_ID:151361200
12133417	CCNG2	cyclin G2	gene	DOID:1909	melanoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133417	CCNG2	cyclin G2	gene	DOID:1993	rectum cancer		ISO	RGD:1312769	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:colon,rectum (human)	PMID:27982046|REF_RGD_ID:151361200
12133417	CCNG2	cyclin G2	gene	DOID:219	colon cancer		ISO	RGD:1312769	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:colon,rectum (human)	PMID:27982046|REF_RGD_ID:151361200
12133417	CCNG2	cyclin G2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133417	CCNG2	cyclin G2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12133417	CCNG2	cyclin G2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312769	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133417	CCNG2	cyclin G2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133417	CCNG2	cyclin G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133417	CCNG2	cyclin G2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312770	D	RGD:9068941	20220303	RGD			PMID:27982046|REF_RGD_ID:151361200
12133417	CCNG2	cyclin G2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1312770	D	RGD:9068941	20220303	RGD			PMID:27982046|REF_RGD_ID:151361200
12133417	CCNG2	cyclin G2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312769	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133429	RPL17	ribosomal protein L17	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1347180	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12133442	PSME2	proteasome activator subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:1909	melanoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12133442	PSME2	proteasome activator subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12133442	PSME2	proteasome activator subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733724	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12133442	PSME2	proteasome activator subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133442	PSME2	proteasome activator subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:0060058	lymphoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:0111025	cone-rod dystrophy 19		ISO	RGD:1350630	D	RGD:7240710	20180130	OMIM			
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:0111025	cone-rod dystrophy 19		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 19 | ClinVar Annotator: match by term: Cone-rod dystrophy 19 | ClinVar Annotator: match by term: TTLL5-related condition	PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1350630	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24791901|PMID:25741868|PMID:27162334|PMID:28492532|PMID:32531858
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:1115	sarcoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:1909	melanoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:3070	high grade glioma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:3275	thymoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:5723	optic atrophy		ISO	RGD:1350630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:630	genetic disease		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1350630	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16199547|PMID:24791901|PMID:27162334|PMID:28492532
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:8501	fundus dystrophy		ISO	RGD:1350630	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:24791901|PMID:25741868|PMID:27162334|PMID:28173158|PMID:28492532|PMID:31345219|PMID:31964843|PMID:32531858|PMID:34203883|PMID:35119454|PMID:35365235
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133457	TTLL5	tubulin tyrosine ligase like 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:1115	sarcoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:1909	melanoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1319094	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:3275	thymoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1319094	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1319094	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133534	ABCA6	ATP binding cassette subfamily A member 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1319094	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133580	ASB9	ankyrin repeat and SOCS box containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133600	MAGED4B	MAGE family member D4B	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1604588	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12133622	DLA-79	MHC class Ib	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133622	DLA-79	MHC class Ib	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133622	DLA-79	MHC class Ib	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133622	DLA-79	MHC class Ib	gene	DOID:6039	uveal melanoma		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12133622	DLA-79	MHC class Ib	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133622	DLA-79	MHC class Ib	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1595868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12133622	DLA-79	MHC class Ib	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:1909	melanoma		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133661	FRMD4B	FERM domain containing 4B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348430	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133706	TNPO2	transportin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133706	TNPO2	transportin 2	gene	DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		ISO	RGD:1321214	D	RGD:7240710	20211215	OMIM			
12133706	TNPO2	transportin 2	gene	DOID:0081262	intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies		ISO	RGD:1321214	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | ClinVar Annotator: match by term: TNPO2-related condition	PMID:25741868|PMID:34314705
12133706	TNPO2	transportin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133706	TNPO2	transportin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133706	TNPO2	transportin 2	gene	DOID:1115	sarcoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133706	TNPO2	transportin 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1321214	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12133706	TNPO2	transportin 2	gene	DOID:1324	lung cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133706	TNPO2	transportin 2	gene	DOID:1909	melanoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133706	TNPO2	transportin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133706	TNPO2	transportin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133706	TNPO2	transportin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321214	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133706	TNPO2	transportin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133706	TNPO2	transportin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133706	TNPO2	transportin 2	gene	DOID:630	genetic disease		ISO	RGD:1321214	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12133706	TNPO2	transportin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133706	TNPO2	transportin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133706	TNPO2	transportin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321214	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:0080600	COVID-19		ISO	RGD:1319220	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:0080600	COVID-19		ISO	RGD:1319220	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:37	skin disease		ISO	RGD:1319220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:4362	cervical cancer		ISO	RGD:1319220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12133742	GADD45B	growth arrest and DNA damage inducible beta	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1319220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:1324	lung cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:1909	melanoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:3070	high grade glioma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:3275	thymoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:4362	cervical cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133751	ADAMTS20	ADAM metallopeptidase with thrombospondin type 1 motif 20	gene	DOID:9296	cleft lip		IAGP		D	RGD:12801476	20230510	OMIA		Cleft lip with or without cleft palate, ADAMTS20-related	PMID:13875838|PMID:25798845|PMID:28738009|PMID:34838248|PMID:28887848
12133795	SESN2	sestrin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133795	SESN2	sestrin 2	gene	DOID:3275	thymoma		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133795	SESN2	sestrin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133795	SESN2	sestrin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133795	SESN2	sestrin 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1346813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28209544
12133795	SESN2	sestrin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28209544
12133795	SESN2	sestrin 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31054940
12133795	SESN2	sestrin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133809	GALK2	galactokinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133809	GALK2	galactokinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133809	GALK2	galactokinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133809	GALK2	galactokinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133809	GALK2	galactokinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318611	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133809	GALK2	galactokinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133809	GALK2	galactokinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318611	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133831	USF1	upstream transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133831	USF1	upstream transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133831	USF1	upstream transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133831	USF1	upstream transcription factor 1	gene	DOID:1287	cardiovascular system disease		ISO	RGD:733910	D	RGD:9068941	20200609	RGD			PMID:16699592|REF_RGD_ID:1580805
12133831	USF1	upstream transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133831	USF1	upstream transcription factor 1	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:733910	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO	
12133831	USF1	upstream transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133831	USF1	upstream transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133831	USF1	upstream transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133831	USF1	upstream transcription factor 1	gene	DOID:9005097	Hyperlipidemia, Combined, 1	susceptibility	ISO	RGD:733910	D	RGD:7240710	20190502	OMIM			
12133831	USF1	upstream transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133831	USF1	upstream transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12133831	USF1	upstream transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733910	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2073658 (human)	PMID:18445538|REF_RGD_ID:2313793
12133831	USF1	upstream transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:733910	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, 3' utr:multiple (human)	PMID:16186412|REF_RGD_ID:2313794
12133831	USF1	upstream transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:733910	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3737787 (human)	PMID:18593823|REF_RGD_ID:2313792
12133852	DTHD1	death domain containing 1	gene	DOID:1391	Norum disease		ISO	RGD:3103432	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: LCAT deficiency	PMID:25741868
12133852	DTHD1	death domain containing 1	gene	DOID:2394	ovarian cancer		ISO	RGD:3103432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12133852	DTHD1	death domain containing 1	gene	DOID:5723	optic atrophy		ISO	RGD:3103432	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12133852	DTHD1	death domain containing 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:3103432	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1603839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25583766
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:0081156	common variable immunodeficiency 14		ISO	RGD:1603839	D	RGD:7240710	20190315	OMIM			
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:0081156	common variable immunodeficiency 14		ISO	RGD:1603839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IRF2BP2-related condition | ClinVar Annotator: match by term: Immunodeficiency, common variable, 14 | ClinVar Annotator: match by term: immunodeficiency, common variable, 14	PMID:25741868|PMID:28492532|PMID:33859323|PMID:33864888|PMID:35538558|PMID:36193988|PMID:37353797|PMID:37876937|PMID:39415980|PMID:39616187|PMID:40090425
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:419	scleroderma		ISO	RGD:1603839	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scleroderma	PMID:25741868
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:9003788	Immune Deficiency, Familial Variable		ISO	RGD:1603839	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Immune deficiency, familial variable	PMID:25741868
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12133875	IRF2BP2	interferon regulatory factor 2 binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12133892	MMP25	matrix metallopeptidase 25	gene	DOID:4362	cervical cancer		ISO	RGD:1317990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133892	MMP25	matrix metallopeptidase 25	gene	DOID:674	cleft palate		ISO	RGD:1317990	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: cleft palate	
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:10946084|REF_RGD_ID:11060143
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16206674
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:10726043|REF_RGD_ID:11340216
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0060903	thrombosis		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11858183|PMID:25339356
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0060903	thrombosis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Antiphospholipid Syndrome	PMID:9153543|REF_RGD_ID:11340222
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0070004	myeloid neoplasm	treatment	ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:16959024|REF_RGD_ID:11340218
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0080600	COVID-19	severity	ISO	RGD:737354	D	RGD:9068941	20200618	RGD			PMID:32198776|REF_RGD_ID:30296673
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0080600	COVID-19	severity	ISO	RGD:737354	D	RGD:9068941	20200813	RGD		DNA:SNP: : (rs72729504) (human)	PMID:32747830|REF_RGD_ID:38500238
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma	treatment	ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:19874310|REF_RGD_ID:11341694
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:20037809|REF_RGD_ID:11340209
12133906	F3	coagulation factor III, tissue factor	gene	DOID:0111144	preterm premature rupture of the membranes		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:19012190|REF_RGD_ID:11340215
12133906	F3	coagulation factor III, tissue factor	gene	DOID:10591	pre-eclampsia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Fetal Death;protein:increased expression:plasma	PMID:19736615|REF_RGD_ID:11340220
12133906	F3	coagulation factor III, tissue factor	gene	DOID:10763	hypertension	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:21423288|REF_RGD_ID:11341709
12133906	F3	coagulation factor III, tissue factor	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7740478
12133906	F3	coagulation factor III, tissue factor	gene	DOID:10923	sickle cell anemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:15795541|REF_RGD_ID:11341683
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11246	DIC in newborn		ISO	RGD:737354	D	RGD:9068941	20260530	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:34246626|REF_RGD_ID:730454709
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:2587	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, plasma	PMID:9426395|REF_RGD_ID:11060265
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20642682|PMID:7740478|PMID:9134660
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Leukemia, Myeloid	PMID:3802033|REF_RGD_ID:11341675
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8914465|REF_RGD_ID:11060253
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11247	disseminated intravascular coagulation	treatment	ISO	RGD:2587	D	RGD:9068941	20260530	RGD			PMID:34246626|REF_RGD_ID:730454709
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:10528607|REF_RGD_ID:11340213
12133906	F3	coagulation factor III, tissue factor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8914465|REF_RGD_ID:11060253
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11713	diabetic angiopathy		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:16371118|REF_RGD_ID:2313861
12133906	F3	coagulation factor III, tissue factor	gene	DOID:11713	diabetic angiopathy		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:9285207|REF_RGD_ID:2313868
12133906	F3	coagulation factor III, tissue factor	gene	DOID:1184	nephrotic syndrome		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17513194
12133906	F3	coagulation factor III, tissue factor	gene	DOID:12531	von Willebrand's disease		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:4546024|REF_RGD_ID:11341671
12133906	F3	coagulation factor III, tissue factor	gene	DOID:2452	thrombophilia		ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:15961065|REF_RGD_ID:11341696
12133906	F3	coagulation factor III, tissue factor	gene	DOID:2913	acute pancreatitis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human, mouse)	PMID:27923687|REF_RGD_ID:14398732
12133906	F3	coagulation factor III, tissue factor	gene	DOID:3410	carotid artery thrombosis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:17969370|REF_RGD_ID:2313859
12133906	F3	coagulation factor III, tissue factor	gene	DOID:4138	bile duct disease		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21037076|REF_RGD_ID:11341737
12133906	F3	coagulation factor III, tissue factor	gene	DOID:4362	cervical cancer		ISO	RGD:737354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:21037076|REF_RGD_ID:11341737
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10216089
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:28883694|REF_RGD_ID:14401724
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:737354	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:monocyte (human)	PMID:9863491|REF_RGD_ID:14401592
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:2587	D	RGD:9068941	20260530	RGD			PMID:34045968|REF_RGD_ID:730454711
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:15946135|REF_RGD_ID:14401577
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5425	ovarian hyperstimulation syndrome	severity	ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:12695751|REF_RGD_ID:11340210
12133906	F3	coagulation factor III, tissue factor	gene	DOID:552	pneumonia	disease_progression	ISO	RGD:737354	D	RGD:9068941	20260530	RGD		associated with COVID-19;protein:increased expression:blood serum, extracellular vesicle	PMID:35597450|REF_RGD_ID:730454704
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133906	F3	coagulation factor III, tissue factor	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:21229253|REF_RGD_ID:11062083
12133906	F3	coagulation factor III, tissue factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133906	F3	coagulation factor III, tissue factor	gene	DOID:8947	diabetic retinopathy		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor,serum	PMID:12417540|REF_RGD_ID:2313865
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:9366751|REF_RGD_ID:11341681
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:19535796|REF_RGD_ID:11341690
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:18495150|REF_RGD_ID:11341693
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9000612	Cardiac Allograft Vasculopathy		ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:9916935|REF_RGD_ID:11341701
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9001268	Embolism and Thrombosis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:16038715|REF_RGD_ID:11340219
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:11750579|REF_RGD_ID:11341708
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:plasma	PMID:15004866|REF_RGD_ID:2313863
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:19458308|REF_RGD_ID:7394780
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9002514	Neointima	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:22140576|REF_RGD_ID:11341672
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003121	Thromboembolism		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:24402608|REF_RGD_ID:11341738
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:12426405|REF_RGD_ID:11341691
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:12579195|REF_RGD_ID:1300308
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:23873874|REF_RGD_ID:11340221
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14967414
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9003871	Venous Thrombosis	treatment	ISO	RGD:2587	D	RGD:9068941	20260530	RGD			PMID:23833374|PMID:27020817|REF_RGD_ID:730454714|REF_RGD_ID:730454716
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9004484	Sepsis		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:9875912|REF_RGD_ID:11340217
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:26311287|REF_RGD_ID:11341736
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:2587	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21964405|REF_RGD_ID:11341740
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:26370456|REF_RGD_ID:11341710
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005332	Spontaneous Coronary Artery Dissection		ISO	RGD:737354	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37248441
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005372	Inflammation		ISO	RGD:2587	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, pes	PMID:25772383|REF_RGD_ID:11341739
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734290	D	RGD:9068941	20200609	RGD		protein:increased activity:kidney	PMID:15990447|REF_RGD_ID:2313862
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:2587	D	RGD:9068941	20200609	RGD			PMID:21396682|REF_RGD_ID:5147765
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005930	Endotoxemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Protein C Deficiency	PMID:20858853|REF_RGD_ID:11341685
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:8956768|REF_RGD_ID:11340208
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2587	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:25883098|REF_RGD_ID:11341735
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:12417540|REF_RGD_ID:2313865
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16286589
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9007116	Snake Bites		ISO	RGD:2587	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, skin, plasma	PMID:24831016|REF_RGD_ID:11341687
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407844
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9007730	Burns	treatment	ISO	RGD:2587	D	RGD:9068941	20260530	RGD			PMID:31383607|REF_RGD_ID:730454713
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9008217	Hemorrhage		ISO	RGD:734290	D	RGD:9068941	20200609	RGD			PMID:8692802|REF_RGD_ID:11341698
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9008217	Hemorrhage	treatment	ISO	RGD:737354	D	RGD:9068941	20260530	RGD			PMID:37659813|REF_RGD_ID:730454715
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9008691	Liver Injury	treatment	ISO	RGD:734290	D	RGD:9068941	20200609	RGD		associated with severe acute pancreatitis	PMID:27923687|REF_RGD_ID:14398732
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737354	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15562024
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:2617479|REF_RGD_ID:11340207
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9351	diabetes mellitus		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:decreased expression:urine	PMID:9212353|REF_RGD_ID:2313869
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9351	diabetes mellitus		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:8914465|REF_RGD_ID:11060253
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737354	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma	PMID:17785358|REF_RGD_ID:2312381
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9477	pulmonary embolism		ISO	RGD:2587	D	RGD:9068941	20260530	RGD		mRNA:increased expression:pulmonary artery	PMID:27542118|REF_RGD_ID:730454708
12133906	F3	coagulation factor III, tissue factor	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:737354	D	RGD:9068941	20200609	RGD			PMID:8429686|REF_RGD_ID:11340211
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050871	fibroma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fibroma	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1316868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:20945554|PMID:27651234
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060249	scoliosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060320	inguinal hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:7240710	20190320	OMIM			
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1316868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EHMT1-related condition | ClinVar Annotator: match by term: KLEEFSTRA SYNDROME 1 | ClinVar Annotator: match by term: Kleefstra Syndrome 1 | ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:15805155|PMID:16199547|PMID:16826528|PMID:17576681|PMID:19264732|PMID:20945554|PMID:21538692|PMID:22670141|PMID:22726846|PMID:24088041|PMID:25640679|PMID:25741868|PMID:2663354|PMID:26633542|PMID:26633545|PMID:26808425|PMID:28057753|PMID:28492532|PMID:28512736|PMID:29416845|PMID:29758562|PMID:30525188|PMID:30542205|PMID:31322791|PMID:32335911|PMID:33057194|PMID:33288889|PMID:33834462|PMID:35597848|PMID:35982159|PMID:36413997|PMID:37954151|PMID:38290825|PMID:39013458|PMID:9536098
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080074	neural tube defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neural tube defect	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080597	Kleefstra syndrome		ISO	RGD:1316868	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:10907	microcephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:15805155|PMID:16826528|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:10965	spastic diplegia		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:11782	astigmatism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:11830	myopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16826528|PMID:19264732|PMID:25741868|PMID:28492532|PMID:28554332|PMID:35904121
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:11836	clubfoot		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:12337	varicocele		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Varicocele	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:19264732|PMID:20945554|PMID:25741868|PMID:28492532|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1757	facial hemiatrophy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316868	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus mucosa:	PMID:24805087|REF_RGD_ID:9590071
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1316868	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus:	PMID:24649311|REF_RGD_ID:9589143
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:4188	echolalia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1316868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15805155|PMID:16826528|PMID:18264113|PMID:19264732|PMID:20945554|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28057753|PMID:28492532|PMID:37954151|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:6364	migraine		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:6543	acne		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:848	arthritis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:8893	psoriasis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psoriasis	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9000892	Fetal Distress		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal distress	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002594	High Hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperopia, high	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hypotonia | ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316868	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1316868	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:32277047|PMID:36250449
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9007817	Macroglossia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15805155|PMID:16826528|PMID:19264732|PMID:22670141|PMID:22726846|PMID:25741868|PMID:26808425|PMID:28492532|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008268	Enuresis		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008385	Vomiting		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008482	Congenital Pain Insensitivity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain insensitivity	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:930	orbital disease		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868|PMID:39013458
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9840	esotropia		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:28492532
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1316868	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:32889036
12133922	EHMT1	euchromatic histone lysine methyltransferase 1	gene	DOID:9970	obesity		ISO	RGD:1316868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19264732|PMID:20945554|PMID:25741868|PMID:39013458
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:3307	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:increased expression:liver	PMID:9705027|REF_RGD_ID:2302681
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:732809	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:25741868
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133957	PFKFB1	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:1115	sarcoma		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:1324	lung cancer		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:1909	melanoma		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:4362	cervical cancer		ISO	RGD:1603929	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:5041	esophageal cancer		ISO	RGD:1603929	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12133985	VPS26B	VPS26, retromer complex component B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1602995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12133994	C4H1orf198	chromosome 4 C1orf198 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1602995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134012	ZNF862	zinc finger protein 862	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134012	ZNF862	zinc finger protein 862	gene	DOID:0060466	gingival fibromatosis		ISO	RGD:2299992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gingival fibromatosis	PMID:25741868
12134012	ZNF862	zinc finger protein 862	gene	DOID:0070775	gingival fibromatosis 6		ISO	RGD:2299992	D	RGD:7240710	20241106	OMIM			
12134012	ZNF862	zinc finger protein 862	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134012	ZNF862	zinc finger protein 862	gene	DOID:1115	sarcoma		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134012	ZNF862	zinc finger protein 862	gene	DOID:1324	lung cancer		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134012	ZNF862	zinc finger protein 862	gene	DOID:1909	melanoma		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134012	ZNF862	zinc finger protein 862	gene	DOID:2843	long QT syndrome		ISO	RGD:2299992	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12134012	ZNF862	zinc finger protein 862	gene	DOID:3275	thymoma		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134012	ZNF862	zinc finger protein 862	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2299992	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134012	ZNF862	zinc finger protein 862	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299992	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134050	TMEM182	transmembrane protein 182	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134050	TMEM182	transmembrane protein 182	gene	DOID:0080600	COVID-19		ISO	RGD:1604752	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12134050	TMEM182	transmembrane protein 182	gene	DOID:10534	stomach cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134050	TMEM182	transmembrane protein 182	gene	DOID:1324	lung cancer		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134050	TMEM182	transmembrane protein 182	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134050	TMEM182	transmembrane protein 182	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604752	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12134050	TMEM182	transmembrane protein 182	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134050	TMEM182	transmembrane protein 182	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134050	TMEM182	transmembrane protein 182	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:0060058	lymphoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:1324	lung cancer		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733577	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:6039	uveal melanoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134059	SLC29A2	solute carrier family 29 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733577	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:1909	melanoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1315896	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1315896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9000918	Disease Progression		ISO	RGD:1315896	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12134085	PTOV1	PTOV1 extended AT-hook containing adaptor protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:1909	melanoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:3070	high grade glioma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134105	C10H12orf56	chromosome 10 C12orf56 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1603368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134140	TDRD3	tudor domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134140	TDRD3	tudor domain containing 3	gene	DOID:1115	sarcoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:1324	lung cancer		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134140	TDRD3	tudor domain containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1320851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134140	TDRD3	tudor domain containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134140	TDRD3	tudor domain containing 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0060249	scoliosis		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0070266	congenital disorder of glycosylation type IIn		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SLC39A8-CDG	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0070514	neurodevelopmental disorder with dysmorphic facies and distal limb anomalies		ISO	RGD:1317892	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0070653	Fliedner-Zweier syndrome		ISO	RGD:1317892	D	RGD:7240710	20231108	OMIM			
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0070653	Fliedner-Zweier syndrome		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FLIEDNER-ZWEIER SYNDROME | ClinVar Annotator: match by term: Fliedner-Zweier syndrome | ClinVar Annotator: match by term: SCAF4-related condition	PMID:25741868|PMID:32730804|PMID:36333968|PMID:37394306|PMID:39668183|PMID:40290495|PMID:7477272
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1317892	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1317892	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:32730804
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:1059	intellectual disability		ISO	RGD:1317892	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:11836	clubfoot		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:1909	melanoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:4362	cervical cancer		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:630	genetic disease		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:32730804
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:8927	learning disability		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9003760	Myalgia		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317892	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar Annotator: match by term: SCAF4-associated Neurodevelopmental disorder	PMID:25741868|PMID:32730804
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9005988	Multicystic Dysplastic Kidney		ISO	RGD:1317892	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Multicystic kidney dysplasia	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9006743	Spasm		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9008993	Myotonia		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:25741868
12134159	SCAF4	SR-related CTD associated factor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:1115	sarcoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:2513	basal cell carcinoma		ISO	RGD:2298815	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:3275	thymoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2298815	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134185	CCDC152	coiled-coil domain containing 152	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2298815	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0060194	amyotrophic lateral sclerosis type 2		ISO	RGD:1321241	D	RGD:7240710	20180130	OMIM			
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0060194	amyotrophic lateral sclerosis type 2		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALS2-Related Spectrum Disorders | ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 2	PMID:11586298|PMID:17576681|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:28600779|PMID:28832565|PMID:30054184|PMID:30224357|PMID:31069529|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10534	stomach cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1059	intellectual disability		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10907	microcephaly		ISO	RGD:1321241	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:10965	spastic diplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1115	sarcoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1324	lung cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1909	melanoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:1969	cerebral palsy		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:14676054|PMID:17576681|PMID:18852346|PMID:20077034|PMID:23881933|PMID:25174650|PMID:25363768|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:26637979|PMID:27790088|PMID:28407358|PMID:28430856|PMID:28492532|PMID:28714951|PMID:28832565|PMID:29525178|PMID:31182772|PMID:31589614|PMID:32397312|PMID:33770234|PMID:34011629|PMID:34670123|PMID:37091313|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:14676054|PMID:17576681|PMID:18852346|PMID:23881933|PMID:25558820|PMID:25741868|PMID:26257771|PMID:26467025|PMID:28430856|PMID:28492532|PMID:28832565|PMID:29525178|PMID:31182772|PMID:32397312|PMID:33414559|PMID:33770234|PMID:34670123|PMID:35896380|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:3275	thymoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:332	amyotrophic lateral sclerosis	susceptibility	ISO	RGD:1321241	D	RGD:9068941	20200609	RGD			PMID:11586297|REF_RGD_ID:1599080
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4362	cervical cancer		ISO	RGD:1321241	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321241	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:543	dystonia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb dystonia	PMID:32581362
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:607	paraplegia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:630	genetic disease		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11586298|PMID:24315819|PMID:25131622|PMID:25356970|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:767	muscular atrophy		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALS, JUVENILE | ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:11586298|PMID:17576681|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:28600779|PMID:28832565|PMID:31069529|PMID:32397312|PMID:33414559|PMID:33770234|PMID:35896380|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9000831	Hypokinesia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokinesia	PMID:32581362
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9001722	Dysarthria		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004896	Primary Lateral Sclerosis Juvenile		ISO	RGD:1321241	D	RGD:7240710	20180130	OMIM			
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9004896	Primary Lateral Sclerosis Juvenile		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Juvenile primary lateral sclerosis	PMID:11586297|PMID:11586298|PMID:24315819|PMID:25741868|PMID:26467025|PMID:27159321|PMID:28492532|PMID:31069529|PMID:32214227|PMID:33098801
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:11586298|PMID:24315819|PMID:25741868|PMID:27159321|PMID:28492532|PMID:31069529
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending		ISO	RGD:1321241	D	RGD:7240710	20180130	OMIM			
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9005843	Hereditary Spastic Paralysis, Infantile Onset Ascending		ISO	RGD:1321241	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile-onset ascending hereditary spastic paralysis | ClinVar Annotator: match by term: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING	PMID:11586297|PMID:11586298|PMID:12145748|PMID:16199547|PMID:16718699|PMID:17576681|PMID:18852346|PMID:23881933|PMID:24315819|PMID:25131622|PMID:25302125|PMID:25356970|PMID:25558820|PMID:25741868|PMID:26467025|PMID:26601740|PMID:26742954|PMID:27159321|PMID:27601211|PMID:28160950|PMID:28430856|PMID:28492532|PMID:28600779|PMID:28832565|PMID:30128655|PMID:30224357|PMID:30581417|PMID:31069529|PMID:31130284|PMID:31405128|PMID:32214227|PMID:32397312|PMID:32579787|PMID:33098801|PMID:33408239|PMID:33409823|PMID:33414559|PMID:33589474|PMID:33770234|PMID:34983064|PMID:35896380|PMID:36549973|PMID:37055917|PMID:37952009|PMID:9536098
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006178	Dysphonia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphonia	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic gait	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:32581362
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321241	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32581362
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008214	Genu Valgum		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:37091313
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:37091313
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9256	colorectal cancer		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134198	ALS2	alsin Rho guanine nucleotide exchange factor ALS2	gene	DOID:9275	tyrosinemia		ISO	RGD:1321241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertyrosinemia	PMID:32581362
12134312	JMJD4	jumonji domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134312	JMJD4	jumonji domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:0080600	COVID-19		ISO	RGD:1602480	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:3275	thymoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134321	SLC38A7	solute carrier family 38 member 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:1324	lung cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:1909	melanoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:3275	thymoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134355	ENTREP3	endosomal transmembrane epsin interactor 3	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1314529	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmetria	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:1318134	D	RGD:7240710	20180130	OMIM			
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency | ClinVar Annotator: match by term: Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency | ClinVar Annotator: match by term: VALINE METABOLIC DEFECT	PMID:16199547|PMID:17160907|PMID:17576681|PMID:24033266|PMID:25251209|PMID:25591832|PMID:25741868|PMID:26026795|PMID:26163321|PMID:26717663|PMID:27435318|PMID:27896122|PMID:28454995|PMID:28492532|PMID:30111474|PMID:31395954|PMID:32022391|PMID:32677093|PMID:33762937|PMID:36200804|PMID:38374194|PMID:38703036|PMID:40400026|PMID:9536098
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1115	sarcoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:11383	cryptorchidism		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1826	epilepsy		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17160907|PMID:25251209|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1826	epilepsy		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:1909	melanoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:3275	thymoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4362	cervical cancer		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:17160907|PMID:25741868|PMID:26163321|PMID:28492532|PMID:40400026
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:4667	kyphosis		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318134	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:540	strabismus		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5723	optic atrophy		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:630	genetic disease		ISO	RGD:1318134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:33762937|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1318134	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:8398	osteoarthritis		ISO	RGD:1318134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9000495	Tremor		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: failure to thrive	PMID:25741868|PMID:27896122
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9004866	Ataxia		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9007722	Myoclonus		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:16199547|PMID:17160907|PMID:25741868|PMID:26163321|PMID:26717663|PMID:28492532|PMID:30111474|PMID:33762937
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:936	brain disease		ISO	RGD:1318134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134376	HIBCH	3-hydroxyisobutyryl-CoA hydrolase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1318134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:17160907|PMID:25741868|PMID:27896122|PMID:28492532|PMID:32677093|PMID:36200804
12134402	MYOF	myoferlin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134402	MYOF	myoferlin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134402	MYOF	myoferlin	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1343142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	
12134402	MYOF	myoferlin	gene	DOID:0080600	COVID-19		ISO	RGD:1343142	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12134402	MYOF	myoferlin	gene	DOID:10534	stomach cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134402	MYOF	myoferlin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134402	MYOF	myoferlin	gene	DOID:1115	sarcoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134402	MYOF	myoferlin	gene	DOID:1324	lung cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134402	MYOF	myoferlin	gene	DOID:1909	melanoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134402	MYOF	myoferlin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134402	MYOF	myoferlin	gene	DOID:3070	high grade glioma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134402	MYOF	myoferlin	gene	DOID:3275	thymoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134402	MYOF	myoferlin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12134402	MYOF	myoferlin	gene	DOID:4362	cervical cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134402	MYOF	myoferlin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134402	MYOF	myoferlin	gene	DOID:5041	esophageal cancer		ISO	RGD:1343142	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134402	MYOF	myoferlin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134402	MYOF	myoferlin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134402	MYOF	myoferlin	gene	DOID:9003195	Hereditary Angioedema 7		ISO	RGD:1343142	D	RGD:7240710	20210616	OMIM			
12134402	MYOF	myoferlin	gene	DOID:9003195	Hereditary Angioedema 7		ISO	RGD:1343142	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angioedema, hereditary, 7 | ClinVar Annotator: match by term: MYOF-related condition	PMID:25741868|PMID:28492532
12134402	MYOF	myoferlin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134402	MYOF	myoferlin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134402	MYOF	myoferlin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134402	MYOF	myoferlin	gene	DOID:9256	colorectal cancer		ISO	RGD:1343142	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134464	LRRC20	leucine rich repeat containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134464	LRRC20	leucine rich repeat containing 20	gene	DOID:3275	thymoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134464	LRRC20	leucine rich repeat containing 20	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134464	LRRC20	leucine rich repeat containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602483	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1345440	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1345440	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134475	XXYLT1	xyloside xylosyltransferase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345440	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134488	SLC31A2	solute carrier family 31 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317461	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:1115	sarcoma		ISO	RGD:730912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:224	transient cerebral ischemia		ISO	RGD:620531	D	RGD:9068941	20200609	RGD			PMID:23458738|REF_RGD_ID:9999193
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:8927	learning disability		ISO	RGD:730912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:9008023	Memory Disorders		ISO	RGD:730912	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21295146
12134505	SLC17A6	solute carrier family 17 member 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730912	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1313558	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134528	MIS18BP1	MIS18 binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:731914	D	RGD:7240710	20180130	OMIM			
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:0090028	familial isolated deficiency of vitamin E		ISO	RGD:731914	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia with isolated vitamin E deficiency | ClinVar Annotator: match by term: Ataxia with vitamin E deficiency | ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: TTPA-related condition	PMID:10360777|PMID:10448528|PMID:10896705|PMID:11094124|PMID:11916749|PMID:12039660|PMID:12470185|PMID:12767229|PMID:12899840|PMID:14556008|PMID:14657365|PMID:15065857|PMID:15300460|PMID:15953402|PMID:16199547|PMID:16819822|PMID:17049453|PMID:17576681|PMID:17628170|PMID:17628171|PMID:18414213|PMID:18458085|PMID:18458655|PMID:19566498|PMID:20301419|PMID:21110980|PMID:21228398|PMID:22479462|PMID:22696689|PMID:23077608|PMID:23599266|PMID:23713716|PMID:24033266|PMID:24369383|PMID:25262571|PMID:25525159|PMID:25614784|PMID:25741868|PMID:26068213|PMID:26467025|PMID:27307040|PMID:28492532|PMID:28976722|PMID:31429931|PMID:31589614|PMID:31970222|PMID:32928973|PMID:34563650|PMID:34759169|PMID:37982115|PMID:38229626|PMID:3837850|PMID:38535124|PMID:39333430|PMID:39702880|PMID:7566022|PMID:7719340|PMID:8602747|PMID:9270601|PMID:9463307|PMID:9536098|PMID:9931538
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:1324	lung cancer		ISO	RGD:731914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:1936	atherosclerosis		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11095717
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:5679	retinal disease		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752462
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:5723	optic atrophy		ISO	RGD:731914	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:630	genetic disease		ISO	RGD:731914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:767	muscular atrophy		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:731914	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:863	nervous system disease		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11752462
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9002500	Hearing Disorders		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9003919	Urination Disorders		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9004866	Ataxia	susceptibility	ISO	RGD:731914	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations: ; associated with Vitamin E Deficiency	PMID:7719340|REF_RGD_ID:1600430
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11095717|PMID:11752462
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9006575	Vitamin E Deficiency		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11095717
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9007480	Hyperoxia		ISO	RGD:3915	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:12448818|REF_RGD_ID:1600432
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:9008625	Somatosensory Disorders		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:916	liver benign neoplasm		ISO	RGD:3915	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:9178827|REF_RGD_ID:1600436
12134568	TTPA	alpha tocopherol transfer protein	gene	DOID:92	speech disorder		ISO	RGD:731914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10896705
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1342567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1342567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134575	EIF1	eukaryotic translation initiation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:10283	prostate cancer		ISO	RGD:1602680	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:10283	prostate cancer		ISO	RGD:1602680	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:1324	lung cancer		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:1909	melanoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134583	CPSF7	cleavage and polyadenylation specific factor 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134615	CCNT2	cyclin T2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134615	CCNT2	cyclin T2	gene	DOID:0060058	lymphoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12134615	CCNT2	cyclin T2	gene	DOID:10534	stomach cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134615	CCNT2	cyclin T2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134615	CCNT2	cyclin T2	gene	DOID:1909	melanoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134615	CCNT2	cyclin T2	gene	DOID:3070	high grade glioma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134615	CCNT2	cyclin T2	gene	DOID:4362	cervical cancer		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134615	CCNT2	cyclin T2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319417	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12134615	CCNT2	cyclin T2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134615	CCNT2	cyclin T2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134642	LRRC2	leucine rich repeat containing 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1323318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:10534	stomach cancer		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:1115	sarcoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:1324	lung cancer		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:1909	melanoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:3070	high grade glioma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:736543	D	RGD:9068941	20220304	RGD		associated with metastasis; protein:increased expression:gastric mucosa (human)	PMID:16338072|REF_RGD_ID:151660348
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12134659	PTPRA	protein tyrosine phosphatase receptor type A	gene	DOID:9256	colorectal cancer		ISO	RGD:736543	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12134686	FNDC11	fibronectin type III domain containing 11	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1601971	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12134686	FNDC11	fibronectin type III domain containing 11	gene	DOID:1909	melanoma		ISO	RGD:1601971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134686	FNDC11	fibronectin type III domain containing 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1601971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134686	FNDC11	fibronectin type III domain containing 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:10534	stomach cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:1115	sarcoma		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:11830	myopia		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:1324	lung cancer		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134695	DNAJC17	DnaJ heat shock protein family (Hsp40) member C17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1059	intellectual disability		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1115	sarcoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:1324	lung cancer		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:630	genetic disease		ISO	RGD:1322866	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1322866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005|PMID:20562527
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322866	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12134710	EEF1B2	eukaryotic translation elongation factor 1 beta 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322866	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20562527
12134721	RELL1	RELT like 1	gene	DOID:1115	sarcoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134721	RELL1	RELT like 1	gene	DOID:3275	thymoma		ISO	RGD:1625842	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134721	RELL1	RELT like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134721	RELL1	RELT like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1625842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12134721	RELL1	RELT like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1625842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:4362	cervical cancer		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1607024	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134735	ZNHIT6	zinc finger HIT-type containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607024	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134759	DNASE2B	deoxyribonuclease 2 beta	gene	DOID:83	cataract		ISO	RGD:1332002	D	RGD:9068941	20220825	MouseDO		OMIM:601371	
12134759	DNASE2B	deoxyribonuclease 2 beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134775	RNF138	ring finger protein 138	gene	DOID:0080600	COVID-19		ISO	RGD:1605080	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12134775	RNF138	ring finger protein 138	gene	DOID:1115	sarcoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134775	RNF138	ring finger protein 138	gene	DOID:1324	lung cancer		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134775	RNF138	ring finger protein 138	gene	DOID:1909	melanoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134775	RNF138	ring finger protein 138	gene	DOID:3070	high grade glioma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134775	RNF138	ring finger protein 138	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12134775	RNF138	ring finger protein 138	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134775	RNF138	ring finger protein 138	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134775	RNF138	ring finger protein 138	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134786	PPP2R3C	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:0111921	spermatogenic failure 36		ISO	RGD:1319421	D	RGD:7240710	20190529	OMIM			
12134786	PPP2R3C	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134786	PPP2R3C	protein phosphatase 2 regulatory subunit B''gamma	gene	DOID:9002447	Myoectodermal Gonadal Dysgenesis Syndrome		ISO	RGD:1319421	D	RGD:7240710	20191023	OMIM			
12134806	ACTN1	actinin alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:0111053	platelet-type bleeding disorder 15		ISO	RGD:736411	D	RGD:7240710	20180130	OMIM			
12134806	ACTN1	actinin alpha 1	gene	DOID:0111053	platelet-type bleeding disorder 15		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACTN1-related condition | ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 15 | ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED | ClinVar Annotator: match by term: Platelet-type bleeding disorder 15 | ClinVar Annotator: match by term: platelet-type bleeding disorder 15	PMID:17576681|PMID:23434115|PMID:24069336|PMID:25361813|PMID:25741868|PMID:25949529|PMID:26312134|PMID:26453073|PMID:26879394|PMID:27348543|PMID:28492532|PMID:28562514|PMID:28856919|PMID:30351444|PMID:31064749|PMID:31237726|PMID:31249973|PMID:31365757|PMID:32478077|PMID:32581362|PMID:32757236|PMID:34355501|PMID:38103590|PMID:38158197|PMID:9536098
12134806	ACTN1	actinin alpha 1	gene	DOID:10534	stomach cancer		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134806	ACTN1	actinin alpha 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134806	ACTN1	actinin alpha 1	gene	DOID:1115	sarcoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:736411	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bleeding and platelet disorders	PMID:23434115|PMID:25361813|PMID:25741868|PMID:25949529|PMID:28492532|PMID:28562514|PMID:31237726|PMID:31365757|PMID:32581362
12134806	ACTN1	actinin alpha 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:31064749|PMID:32581362
12134806	ACTN1	actinin alpha 1	gene	DOID:1909	melanoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:31064749
12134806	ACTN1	actinin alpha 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:3070	high grade glioma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134806	ACTN1	actinin alpha 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:630	genetic disease		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23434115|PMID:25741868|PMID:26879394|PMID:28492532|PMID:30351444|PMID:31365757
12134806	ACTN1	actinin alpha 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134806	ACTN1	actinin alpha 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736411	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12134806	ACTN1	actinin alpha 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736411	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
12134806	ACTN1	actinin alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134806	ACTN1	actinin alpha 1	gene	DOID:9008217	Hemorrhage		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: bleeding	PMID:25741868|PMID:28492532
12134806	ACTN1	actinin alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:10534	stomach cancer		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:1324	lung cancer		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1602198	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043753
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134840	LRRC46	leucine rich repeat containing 46	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134861	ZC3H10	zinc finger CCCH-type containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134861	ZC3H10	zinc finger CCCH-type containing 10	gene	DOID:4195	hyperglycemia		ISO	RGD:1602996	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31775033
12134861	ZC3H10	zinc finger CCCH-type containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134861	ZC3H10	zinc finger CCCH-type containing 10	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1602996	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31775033
12134861	ZC3H10	zinc finger CCCH-type containing 10	gene	DOID:9970	obesity		ISO	RGD:1602996	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:31775033
12134882	TJAP1	tight junction associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318637	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134882	TJAP1	tight junction associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:0080600	COVID-19		ISO	RGD:1323497	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:10534	stomach cancer		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:1115	sarcoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:3070	high grade glioma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12134912	PALS2	protein associated with LIN7 2, MAGUK p55 family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323497	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134939	THAP5	THAP domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12134939	THAP5	THAP domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1353274	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12134939	THAP5	THAP domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1353274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134939	THAP5	THAP domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12134939	THAP5	THAP domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:0050816	urofacial syndrome		ISO	RGD:1319957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:3275	thymoma		ISO	RGD:1319957	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319957	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:9000436	Urofacial Syndrome 2		ISO	RGD:1319957	D	RGD:7240710	20180130	OMIM			
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:9000436	Urofacial Syndrome 2		ISO	RGD:1319957	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRIG2-related condition | ClinVar Annotator: match by term: UROFACIAL SYNDROME 2 | ClinVar Annotator: match by term: Urofacial syndrome 2	PMID:25741868|PMID:28492532
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319957	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741906
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12134963	LRIG2	leucine rich repeats and immunoglobulin like domains 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319957	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12134996	LOC484590	zinc finger protein 181	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135035	THRSP	thyroid hormone responsive	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:11417	D	RGD:9068941	20240425	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312	
12135035	THRSP	thyroid hormone responsive	gene	DOID:305	carcinoma		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12135035	THRSP	thyroid hormone responsive	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12135035	THRSP	thyroid hormone responsive	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:734265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12135042	TGM6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:7240710	20180130	OMIM			
12135042	TGM6	transglutaminase 6	gene	DOID:0050982	spinocerebellar ataxia 35		ISO	RGD:1349690	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia 35 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 35 | ClinVar Annotator: match by term: TGM6-related condition	PMID:17576681|PMID:21106500|PMID:22162184|PMID:22287014|PMID:22554020|PMID:23206699|PMID:24637876|PMID:24755948|PMID:25133958|PMID:25253745|PMID:25356970|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:29590070|PMID:30229425|PMID:30670339|PMID:31920494|PMID:32259886|PMID:32426513|PMID:33160304|PMID:33378849|PMID:33432171|PMID:34008892|PMID:36644153|PMID:37007936|PMID:38255008|PMID:9536098
12135042	TGM6	transglutaminase 6	gene	DOID:0080855	Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
12135042	TGM6	transglutaminase 6	gene	DOID:0080856	vascular Parkinsonism		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular parkinsonism	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
12135042	TGM6	transglutaminase 6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease	PMID:22162184|PMID:22287014|PMID:22554020|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28934387|PMID:30229425|PMID:32259886|PMID:33160304|PMID:40786864
12135042	TGM6	transglutaminase 6	gene	DOID:630	genetic disease		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36644153
12135042	TGM6	transglutaminase 6	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1349690	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12135042	TGM6	transglutaminase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135042	TGM6	transglutaminase 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1349690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:10534	stomach cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:1324	lung cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:4362	cervical cancer		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:5041	esophageal cancer		ISO	RGD:1605976	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135059	FAM234B	family with sequence similarity 234 member B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605976	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12135076	SREK1	splicing regulatory glutamic acid and lysine rich protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short Rib Polydactyly Syndrome	PMID:16199547|PMID:16385454|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:9536098
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Short rib-polydactyly syndrome	PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:11727201|PMID:12673792|PMID:16199547|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301601|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:16783378|PMID:17468754|PMID:17576681|PMID:19610081|PMID:19648123|PMID:19763152|PMID:20301718|PMID:20307669|PMID:21227999|PMID:22406018|PMID:23339108|PMID:25741868|PMID:28492532|PMID:29068549|PMID:29658880|PMID:29923190|PMID:30266093|PMID:30767363|PMID:33957996|PMID:9536098
12135114	IFT80	intraflagellar transport 80	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1606252	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:21227999|PMID:23339108|PMID:28492532|PMID:29068549
12135114	IFT80	intraflagellar transport 80	gene	DOID:0060118	thoracic disease		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:0080006	bone development disease		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:0110086	asphyxiating thoracic dystrophy 2		ISO	RGD:1606252	D	RGD:7240710	20180130	OMIM			
12135114	IFT80	intraflagellar transport 80	gene	DOID:0110087	asphyxiating thoracic dystrophy 3		ISO	RGD:1550300	D	RGD:9068941	20220825	MouseDO		OMIM:613091	
12135114	IFT80	intraflagellar transport 80	gene	DOID:11162	respiratory failure		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:1148	polydactyly		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:8466	retinal degeneration		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135114	IFT80	intraflagellar transport 80	gene	DOID:9001041	Asphyxia		ISO	RGD:1606252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17468754
12135149	TNN	tenascin N	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135149	TNN	tenascin N	gene	DOID:10534	stomach cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135149	TNN	tenascin N	gene	DOID:1115	sarcoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135149	TNN	tenascin N	gene	DOID:1324	lung cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135149	TNN	tenascin N	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135149	TNN	tenascin N	gene	DOID:2394	ovarian cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12135149	TNN	tenascin N	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12135149	TNN	tenascin N	gene	DOID:4362	cervical cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135149	TNN	tenascin N	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135149	TNN	tenascin N	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135149	TNN	tenascin N	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135149	TNN	tenascin N	gene	DOID:9256	colorectal cancer		ISO	RGD:1314366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12135177	ZNF449	zinc finger protein 449	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135177	ZNF449	zinc finger protein 449	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135177	ZNF449	zinc finger protein 449	gene	DOID:10534	stomach cancer		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135177	ZNF449	zinc finger protein 449	gene	DOID:1324	lung cancer		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135177	ZNF449	zinc finger protein 449	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135177	ZNF449	zinc finger protein 449	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135177	ZNF449	zinc finger protein 449	gene	DOID:9007661	Dwarfism		ISO	RGD:1348166	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12135177	ZNF449	zinc finger protein 449	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348166	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135192	ESD	esterase D	gene	DOID:10534	stomach cancer		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135192	ESD	esterase D	gene	DOID:3275	thymoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135192	ESD	esterase D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135192	ESD	esterase D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12135192	ESD	esterase D	gene	DOID:8398	osteoarthritis		ISO	RGD:1354034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12135192	ESD	esterase D	gene	DOID:9002669	Hypoxia		ISO	RGD:1354034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
12135192	ESD	esterase D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135192	ESD	esterase D	gene	DOID:9256	colorectal cancer		ISO	RGD:1354034	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135215	TMED6	transmembrane p24 trafficking protein 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:10534	stomach cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:12858	Huntington's disease	treatment	ISO	RGD:621035	D	RGD:9068941	20230330	RGD			PMID:25315303|REF_RGD_ID:243048432
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733534	D	RGD:9068941	20230325	RGD		protein:increased expression:heart	PMID:25799991|REF_RGD_ID:240550109
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:1324	lung cancer		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:3275	thymoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:5041	esophageal cancer		ISO	RGD:733534	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:733534	D	RGD:9068941	20230325	RGD		mRNA:increased expression:heart, peripheral blood mononuclear cell	PMID:33787083|REF_RGD_ID:240191787
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:621035	D	RGD:9068941	20230325	RGD			PMID:28649129|REF_RGD_ID:241060360
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:8725	vascular dementia	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:30916555|REF_RGD_ID:242905183
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9000543	Death	sexual_dimorphism	ISO	RGD:733534	D	RGD:9068941	20230325	RGD		associated with coronary artery disease;DNA:SNP: :rs8133010 (human)	PMID:35959094|REF_RGD_ID:242905186
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9003197	Vaso-occlusive Crisis	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:22833547|REF_RGD_ID:242905184
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:621035	D	RGD:9068941	20230325	RGD			PMID:28649129|REF_RGD_ID:241060360
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:25799991|PMID:33464954|REF_RGD_ID:240550109|REF_RGD_ID:242905185
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9006646	Metabolic Syndrome	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:34618683|REF_RGD_ID:242170038
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135225	PDE9A	phosphodiesterase 9A	gene	DOID:9970	obesity	treatment	ISO	RGD:733535	D	RGD:9068941	20230325	RGD			PMID:34618683|REF_RGD_ID:242170038
12135256	CTRL	chymotrypsin like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135256	CTRL	chymotrypsin like	gene	DOID:2843	long QT syndrome		ISO	RGD:1346038	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12135256	CTRL	chymotrypsin like	gene	DOID:5041	esophageal cancer		ISO	RGD:1346038	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135256	CTRL	chymotrypsin like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346038	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135271	GYG1	glycogenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135271	GYG1	glycogenin 1	gene	DOID:0050579	glycogen storage disease XV		ISO	RGD:1348748	D	RGD:7240710	20180130	OMIM			
12135271	GYG1	glycogenin 1	gene	DOID:0050579	glycogen storage disease XV		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GSD XV | ClinVar Annotator: match by term: Glycogen storage disease XV	PMID:16199547|PMID:17576681|PMID:20357282|PMID:25272951|PMID:25741868|PMID:26652229|PMID:27066558|PMID:27544502|PMID:28492532|PMID:29264399|PMID:31791869|PMID:32477874|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135271	GYG1	glycogenin 1	gene	DOID:0080307	myofibrillar myopathy		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myofibrillar myopathy	PMID:17576681|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:1115	sarcoma		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135271	GYG1	glycogenin 1	gene	DOID:1909	melanoma		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135271	GYG1	glycogenin 1	gene	DOID:2747	glycogen storage disease		ISO	RGD:1348748	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357282
12135271	GYG1	glycogenin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135271	GYG1	glycogenin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:17576681|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135271	GYG1	glycogenin 1	gene	DOID:630	genetic disease		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12135271	GYG1	glycogenin 1	gene	DOID:767	muscular atrophy		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:17576681|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1348748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20357282
12135271	GYG1	glycogenin 1	gene	DOID:9002303	Polyglucosan Body Myopathy 2		ISO	RGD:1348748	D	RGD:7240710	20180130	OMIM			
12135271	GYG1	glycogenin 1	gene	DOID:9002303	Polyglucosan Body Myopathy 2		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY 2 | ClinVar Annotator: match by term: Polyglucosan body myopathy 2 | ClinVar Annotator: match by term: Polyglucosan body myopathy type 2	PMID:16199547|PMID:17576681|PMID:20357282|PMID:24033266|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:25272951|PMID:25741868|PMID:26652229|PMID:28492532|PMID:29264399|PMID:9536098
12135271	GYG1	glycogenin 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1348748	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12135271	GYG1	glycogenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348748	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135271	GYG1	glycogenin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348748	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:10534	stomach cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:1115	sarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:1324	lung cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:1909	melanoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:4362	cervical cancer		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1606660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12135290	DPY19L4	dpy-19 like 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:1115	sarcoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:1324	lung cancer		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:3275	thymoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:4362	cervical cancer		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135312	CCDC117	coiled-coil domain containing 117	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602294	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135324	GKN1	gastrokine 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135324	GKN1	gastrokine 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1351595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12135324	GKN1	gastrokine 1	gene	DOID:5119	ovarian cyst		ISO	RGD:1351595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12135324	GKN1	gastrokine 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1351595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISO	RGD:1320404	D	RGD:7240710	20180130	OMIM			
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:0050775	schneckenbecken dysplasia		ISO	RGD:1320404	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SCHNECKENBECKEN DYSPLASIA | ClinVar Annotator: match by term: SLC35D1-related disorder | ClinVar Annotator: match by term: Schneckenbecken dysplasia	PMID:16199547|PMID:17576681|PMID:17952091|PMID:19508970|PMID:25741868|PMID:28492532|PMID:9536098
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcotubular myopathy	PMID:25741868
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:1059	intellectual disability		ISO	RGD:1320404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:1909	melanoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:4362	cervical cancer		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320404	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:630	genetic disease		ISO	RGD:1320404	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:65	connective tissue disease		ISO	RGD:1320404	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12135334	SLC35D1	solute carrier family 35 member D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320404	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135356	RPL39	ribosomal protein L39	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135356	RPL39	ribosomal protein L39	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135356	RPL39	ribosomal protein L39	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12135356	RPL39	ribosomal protein L39	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135356	RPL39	ribosomal protein L39	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735612	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:1115	sarcoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:1324	lung cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:1909	melanoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:3070	high grade glioma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318285	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:5041	esophageal cancer		ISO	RGD:1318285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135364	DENND4C	DENN domain containing 4C	gene	DOID:9256	colorectal cancer		ISO	RGD:1318285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12135411	SLC25A2	solute carrier family 25 member 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1347291	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12135502	BPIFB1	BPI fold containing family B member 1	gene	DOID:3275	thymoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135502	BPIFB1	BPI fold containing family B member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135502	BPIFB1	BPI fold containing family B member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135502	BPIFB1	BPI fold containing family B member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:10534	stomach cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:1115	sarcoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:1909	melanoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:3307	teratoma		ISO	RGD:1349712	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:4362	cervical cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1349712	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:630	genetic disease		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
12135528	DDX6	DEAD-box helicase 6	gene	DOID:9001091	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES		ISO	RGD:1349712	D	RGD:7240710	20200115	OMIM			
12135528	DDX6	DEAD-box helicase 6	gene	DOID:9001091	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES		ISO	RGD:1349712	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DDX6-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with impaired language and dysmorphic facies	PMID:25741868|PMID:28492532|PMID:31422817
12135528	DDX6	DEAD-box helicase 6	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135528	DDX6	DEAD-box helicase 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135549	C19H4orf33	chromosome 19 C4orf33 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0050425	restless legs syndrome		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:730953	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:16199547|PMID:22772368|PMID:22772371|PMID:22863191|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31915033|PMID:32277047|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0060321	umbilical hernia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0060468	Holt-Oram syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Holt-Oram syndrome	PMID:25741868|PMID:26017485|PMID:28492532
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0061230	Camurati-Engelmann disease 2		ISO	RGD:730953	D	RGD:7240710	20250924	OMIM			
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0061230	Camurati-Engelmann disease 2		ISO	RGD:730953	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CAMURATI-ENGELMANN DISEASE 2 | ClinVar Annotator: match by term: TGFB2-related condition	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:32277047|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0070233	Loeys-Dietz syndrome 4		ISO	RGD:730953	D	RGD:7240710	20180130	OMIM			
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0070233	Loeys-Dietz syndrome 4		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 4 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 4	PMID:16199547|PMID:17576681|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24193348|PMID:24577266|PMID:25046559|PMID:25049390|PMID:25640679|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28492532|PMID:29392890|PMID:29907982|PMID:30071990|PMID:30675029|PMID:30739908|PMID:31915033|PMID:32154675|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:33824467|PMID:34008892|PMID:3476488|PMID:34916229|PMID:35205249|PMID:35399906|PMID:35753512|PMID:36517271|PMID:37823753|PMID:9536098
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0080006	bone development disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:0110106	atrial heart septal defect 1		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect 1	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:10024	migraine with aura		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with aura	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:10128	venous insufficiency		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Venous insufficiency	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868|PMID:26017485|PMID:28492532
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1205	allergic disease		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:12176	goiter		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1324	lung cancer		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:13250	diarrhea		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:25741868|PMID:26017485|PMID:28492532
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:22772368|PMID:22772371|PMID:23102774|PMID:24465802|PMID:25644172|PMID:25741868|PMID:26017485|PMID:28492532|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:7737999|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25326637|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:16199547|PMID:1644824|PMID:17576681|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:22863191|PMID:23102774|PMID:24465802|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28139901|PMID:28492532|PMID:28550590|PMID:28633253|PMID:28655553|PMID:29392890|PMID:29510914|PMID:29543232|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31191903|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:34363016|PMID:3476488|PMID:35205249|PMID:39534309|PMID:7737999|PMID:9536098|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730953	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10611753|PMID:1644824|PMID:1843280|PMID:2094803|PMID:22772368|PMID:22772371|PMID:23102774|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:26017485|PMID:26854089|PMID:27782106|PMID:28492532|PMID:29392890|PMID:29510914|PMID:29907982|PMID:30071990|PMID:30739908|PMID:31785789|PMID:31915033|PMID:32277047|PMID:32307099|PMID:32897753|PMID:33125268|PMID:33418956|PMID:3476488|PMID:35205249|PMID:35399906|PMID:37823753|PMID:7737999|PMID:9599222
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1520	colon carcinoma		ISO	RGD:1313707	D	RGD:9068941	20200609	RGD			PMID:10416598|REF_RGD_ID:13432084
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1520	colon carcinoma	disease_progression	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:11166150|REF_RGD_ID:13432074
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1596	depressive disorder		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1682	congenital heart disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1686	glaucoma		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20375339
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:730953	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17366323|REF_RGD_ID:2302024
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:730953	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:289	endometriosis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:730953	D	RGD:9068941	20221027	RGD		protein:decreased expression:pancreas (human)	PMID:8253361|REF_RGD_ID:155630628
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:730953	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:417	autoimmune disease		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:30686515|REF_RGD_ID:14985228
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17164399
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:520	aortic disease		ISO	RGD:730953	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:5637	pancreatic adenosquamous carcinoma	ameliorates	ISO	RGD:730953	D	RGD:9068941	20221027	RGD		human cells in a mouse model	PMID:21366804|REF_RGD_ID:155630611
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:57	aortic valve insufficiency		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:5844	myocardial infarction		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:14575314|REF_RGD_ID:2302107
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:630	genetic disease		ISO	RGD:730953	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:65	connective tissue disease		ISO	RGD:730953	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder | ClinVar Annotator: match by term: connective tissue disorder	PMID:25741868|PMID:28492532
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:674	cleft palate		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25450421
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730953	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:15145083|REF_RGD_ID:2302103
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9000781	Cyanosis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9001224	Striae Distensae		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9001581	Constipation		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17117936|PMID:18205704|REF_RGD_ID:2292158|REF_RGD_ID:2302090
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9001611	Urogenital Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9001752	Shoulder Dislocation		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Shoulder subluxation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		protein:decreased expression:sciatic nerve	PMID:14997937|REF_RGD_ID:2302105
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:central nervous system	PMID:17204936|REF_RGD_ID:2302088
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9003279	Joint Dislocations		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint subluxation	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9003760	Myalgia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:22772368|PMID:24577266|PMID:25644172|PMID:25741868|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005004	Musculoskeletal Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005077	Joint Instability		ISO	RGD:730953	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22772368|PMID:24577266|PMID:25046559|PMID:25644172|PMID:25741868|PMID:27782106|PMID:28492532|PMID:29907982|PMID:31915033|PMID:32307099|PMID:33418956|PMID:3476488|PMID:35399906
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005100	Aberrant Crypt Foci	treatment	ISO	RGD:70491	D	RGD:9068941	20200609	RGD			PMID:17293967|REF_RGD_ID:13432080
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular hypotonia	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005640	Complete Atrioventricular Septal Defect		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complete atrioventricular canal	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		protein:increased expression:parotid gland	PMID:17574405|REF_RGD_ID:2302087
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9006617	Fatigue		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:25046559|PMID:25741868|PMID:27782106|PMID:28492532|PMID:33418956
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9007870	Respiratory System Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730953	D	RGD:9068941	20200609	RGD		associated with Inflammatory Bowel Diseases;DNA:hypermethylation	PMID:22532293|REF_RGD_ID:13432077
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9217007
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730953	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:15057430|REF_RGD_ID:13432086
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:730953	D	RGD:9068941	20200609	RGD			PMID:19661324|REF_RGD_ID:13432081
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9446	cholangitis		ISO	RGD:730953	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25055964
12135573	TGFB2	transforming growth factor beta 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:70491	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:increased expression:dorsal root ganglion	PMID:18406405|REF_RGD_ID:2302086
12135591	HELZ	helicase with zinc finger	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:0060040	pervasive developmental disorder		ISO	RGD:1316013	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pervasive developmental disorder	PMID:25741868
12135591	HELZ	helicase with zinc finger	gene	DOID:10534	stomach cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135591	HELZ	helicase with zinc finger	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135591	HELZ	helicase with zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:1324	lung cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135591	HELZ	helicase with zinc finger	gene	DOID:1909	melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:3070	high grade glioma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12135591	HELZ	helicase with zinc finger	gene	DOID:4362	cervical cancer		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135591	HELZ	helicase with zinc finger	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12135591	HELZ	helicase with zinc finger	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:5041	esophageal cancer		ISO	RGD:1316013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135591	HELZ	helicase with zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:6039	uveal melanoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135591	HELZ	helicase with zinc finger	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135591	HELZ	helicase with zinc finger	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:1324	lung cancer		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135631	MTG1	mitochondrial ribosome associated GTPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603933	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135641	EIF4A1	eukaryotic translation initiation factor 4A1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1354204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12135678	SSTR1	somatostatin receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135678	SSTR1	somatostatin receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135678	SSTR1	somatostatin receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:737191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135678	SSTR1	somatostatin receptor 1	gene	DOID:169	neuroendocrine tumor		ISO	RGD:737191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
12135678	SSTR1	somatostatin receptor 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:737191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17625444
12135678	SSTR1	somatostatin receptor 1	gene	DOID:1824	status epilepticus		ISO	RGD:737191	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18951627
12135678	SSTR1	somatostatin receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135678	SSTR1	somatostatin receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135678	SSTR1	somatostatin receptor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3762	D	RGD:9068941	20200609	RGD			PMID:7956902|REF_RGD_ID:2325008
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:1345624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:1345624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:18947684|PMID:24610330|PMID:25109415|PMID:25741868|PMID:25964309|PMID:28492532|PMID:28646536|PMID:28893421|PMID:33262960
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:585	nephrolithiasis		ISO	RGD:1345624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:630	genetic disease		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:1345624	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:18947684|PMID:24610330|PMID:25109415|PMID:25741868|PMID:25964309|PMID:28492532|PMID:28646536|PMID:28893421|PMID:33262960
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9266	cystinuria		IAGP		D	RGD:12801476	20250514	OMIA		Cystinuria, type I - A	PMID:8334504|PMID:8334507|PMID:8334506|PMID:7493896|PMID:10028158|PMID:11129328|PMID:11467594|PMID:20190975|PMID:16845473|PMID:16566266|PMID:24001348|PMID:34438894|PMID:36971195|PMID:27388977|PMID:37582787|PMID:40298126
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9266	cystinuria		IAGP		D	RGD:12801476	20250514	OMIA		Cystinuria, type II - A	PMID:24001348|PMID:34438894|PMID:26002797|PMID:40298126
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9266	cystinuria		ISO	RGD:1345624	D	RGD:7240710	20180130	OMIM			
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9266	cystinuria		ISO	RGD:1345624	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CYSTINURIA | ClinVar Annotator: match by term: Cystine Urolithiasis | ClinVar Annotator: match by term: Cystinuria | ClinVar Annotator: match by term: SLC3A1-related condition	PMID:10464673|PMID:10620184|PMID:10805464|PMID:11260385|PMID:116225397|PMID:11748844|PMID:12036192|PMID:12234283|PMID:12820697|PMID:14531788|PMID:14561219|PMID:14991253|PMID:15635077|PMID:15691362|PMID:16138908|PMID:16199547|PMID:16225397|PMID:17576681|PMID:18332091|PMID:18414213|PMID:18947684|PMID:19782624|PMID:20852892|PMID:21488235|PMID:21488254|PMID:21677404|PMID:22480232|PMID:23532419|PMID:24033266|PMID:24215330|PMID:24610330|PMID:25109415|PMID:25296721|PMID:25417848|PMID:25640679|PMID:25741868|PMID:25964309|PMID:26123750|PMID:26540609|PMID:28166740|PMID:28492532|PMID:28646536|PMID:28689648|PMID:28717662|PMID:28812535|PMID:28893421|PMID:30069816|PMID:30146843|PMID:31589614|PMID:32133030|PMID:33262960|PMID:33349102|PMID:33532864|PMID:34426522|PMID:35149915|PMID:35325889|PMID:36571637|PMID:36703223|PMID:37144129|PMID:37716586|PMID:38547852|PMID:40794449|PMID:7539209|PMID:7573036|PMID:8054986|PMID:8792820|PMID:9083097|PMID:9186880|PMID:9452031|PMID:9536098|PMID:9648062|PMID:9768685
12135694	SLC3A1	solute carrier family 3 member 1	gene	DOID:9266	cystinuria	susceptibility	ISO	RGD:1345624	D	RGD:9068941	20200609	RGD		DNA:missense mutations	PMID:8054986|REF_RGD_ID:1600015
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:20170900|PMID:25741868|PMID:28389643|PMID:28492532|PMID:32294113
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0111196	X-linked distal spinal muscular atrophy 3		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0111196	X-linked distal spinal muscular atrophy 3		ISO	RGD:10216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE	PMID:10570920|PMID:11241493|PMID:11472597|PMID:15517445|PMID:16083905|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20045993|PMID:20170900|PMID:20652413|PMID:21494555|PMID:22210628|PMID:22573628|PMID:23217327|PMID:23281160|PMID:24033266|PMID:25428120|PMID:25741868|PMID:28119449|PMID:28451781|PMID:28492532|PMID:30809870|PMID:31319225|PMID:31959876|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:36474027|PMID:8981948|PMID:9536098
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0111200	autosomal dominant distal hereditary motor neuronopathy 1		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 1	PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0111272	occipital horn syndrome		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:0111272	occipital horn syndrome		ISO	RGD:10216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa, X-linked | ClinVar Annotator: match by term: EDS IX | ClinVar Annotator: match by term: OCCIPITAL HORN SYNDROME | ClinVar Annotator: match by term: Occipital horn syndrome	PMID:10319589|PMID:10570920|PMID:11241493|PMID:11350187|PMID:11431706|PMID:11472597|PMID:14635105|PMID:15517445|PMID:15596607|PMID:15981243|PMID:16083905|PMID:16199547|PMID:17576681|PMID:18256395|PMID:18414213|PMID:18752978|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22074552|PMID:22210628|PMID:22552817|PMID:22573628|PMID:23217327|PMID:23281160|PMID:24033266|PMID:24919650|PMID:25428120|PMID:25640679|PMID:25741868|PMID:28119449|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29499166|PMID:30809870|PMID:31124329|PMID:31319225|PMID:31959876|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:34440436|PMID:36474027|PMID:7842019|PMID:7977350|PMID:8981948|PMID:9536098
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1059	intellectual disability		ISO	RGD:10216	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pituitary gland, vascular plexus (rat)	PMID:20027333|REF_RGD_ID:8657017
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:10907	microcephaly		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1115	sarcoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia		ISO	RGD:10215	D	RGD:9068941	20200609	RGD		mRNA:increased expression:duodenum (mouse)	PMID:23776592|REF_RGD_ID:11252172
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:increased expression:small intestine mucosa (rat)	PMID:15637178|REF_RGD_ID:2315589
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:11758	iron deficiency anemia	severity	ISO	RGD:10215	D	RGD:9068941	20200609	RGD		DNA:deletion:cds:p.A799_L800del (mouse)	PMID:23776592|REF_RGD_ID:11252172
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:11830	myopia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:11832	visual epilepsy		ISO	RGD:10216	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:12849	autistic disorder		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1324	lung cancer		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:10216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:10570920|PMID:11241493|PMID:18414213|PMID:20045993|PMID:23281160|PMID:25741868|PMID:28492532|PMID:31959876|PMID:33151932|PMID:33359139
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1826	epilepsy		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:7240710	20180130	OMIM			
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease, copper-replacement responsive | ClinVar Annotator: match by term: Menkes kinky-hair syndrome	PMID:10319589|PMID:10570920|PMID:10739752|PMID:11241493|PMID:11350187|PMID:12221109|PMID:12676902|PMID:14635105|PMID:14985388|PMID:15372525|PMID:16083905|PMID:16199547|PMID:16826513|PMID:17108763|PMID:17496194|PMID:17576681|PMID:18414213|PMID:18752978|PMID:19153371|PMID:19194885|PMID:20045993|PMID:20170900|PMID:20301586|PMID:20652413|PMID:21208200|PMID:21494555|PMID:21716286|PMID:22361452|PMID:23281160|PMID:24033266|PMID:25150085|PMID:25428120|PMID:25640679|PMID:25741868|PMID:26117549|PMID:27878136|PMID:28251916|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:30809870|PMID:31124329|PMID:31319225|PMID:32005694|PMID:32293788|PMID:33999244|PMID:34008892|PMID:7842019|PMID:7977350|PMID:8812725|PMID:8981948|PMID:9246006|PMID:9536098|PMID:9894833
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease		ISO	RGD:10216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MENKES DISEASE | ClinVar Annotator: match by term: MENKES DISEASE, MILD | ClinVar Annotator: match by term: Menkes Disease | ClinVar Annotator: match by term: Menkes disease | ClinVar Annotator: match by term: Menkes kinky hair syndrome | ClinVar Annotator: match by term: Menkes kinky-hair syndrome	PMID:10319589|PMID:10393914|PMID:10401004|PMID:10463276|PMID:10570920|PMID:10739752|PMID:11043517|PMID:11241493|PMID:11350187|PMID:11431706|PMID:11472597|PMID:11936860|PMID:12088078|PMID:12427520|PMID:12537648|PMID:12939451|PMID:14635105|PMID:15106121|PMID:15184642|PMID:15238919|PMID:15372525|PMID:15517445|PMID:15596607|PMID:15693857|PMID:15981243|PMID:16083905|PMID:16098018|PMID:16199547|PMID:16278898|PMID:17108763|PMID:17427918|PMID:17483305|PMID:17496194|PMID:17502470|PMID:17576681|PMID:18256395|PMID:18272047|PMID:18414213|PMID:18664244|PMID:18752978|PMID:19194885|PMID:19429807|PMID:19735987|PMID:19768483|PMID:20045102|PMID:20045993|PMID:20301586|PMID:20497190|PMID:20652413|PMID:20799318|PMID:20818383|PMID:20932283|PMID:21194679|PMID:21208200|PMID:21228398|PMID:21321493|PMID:21494555|PMID:21667063|PMID:21716286|PMID:21738351|PMID:22019070|PMID:22206013|PMID:22264391|PMID:22361452|PMID:22378671|PMID:22552817|PMID:22573628|PMID:23035047|PMID:23108492|PMID:23217327|PMID:23281160|PMID:24033266|PMID:24630286|PMID:24882692|PMID:24919650|PMID:25025039|PMID:25150085|PMID:25214167|PMID:25281031|PMID:25428120|PMID:25583628|PMID:25741868|PMID:25817015|PMID:26117549|PMID:28389643|PMID:28397151|PMID:28451781|PMID:28492532|PMID:29499166|PMID:30618512|PMID:30809870|PMID:31319225|PMID:31959876|PMID:32005694|PMID:32293788|PMID:32818659|PMID:33057194|PMID:33151932|PMID:33359139|PMID:33999244|PMID:34008892|PMID:34302356|PMID:34430447|PMID:34440436|PMID:36474027|PMID:36692329|PMID:7977350|PMID:8526465|PMID:8528242|PMID:8812725|PMID:8981948|PMID:9166584|PMID:9385451|PMID:9467005|PMID:9536098|PMID:9668166
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1838	Menkes disease	severity	ISO	RGD:10216	D	RGD:9068941	20200609	RGD		DNA:duplication:exon:	PMID:22074552|REF_RGD_ID:12879459
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:1909	melanoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:2355	anemia		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23776592
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:3144	cutis laxa	susceptibility	ISO	RGD:10216	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:10739752|REF_RGD_ID:734621
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:3627	aortic aneurysm		ISO	RGD:10215	D	RGD:9068941	20220825	MouseDO			
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:diaphragm (rat)	PMID:25319798|REF_RGD_ID:11341670
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:10216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:630	genetic disease		ISO	RGD:10216	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:18752978|PMID:20045993|PMID:21716286|PMID:22264391|PMID:23281160|PMID:24033266|PMID:25741868|PMID:27878136|PMID:28389643|PMID:28397151|PMID:28492532|PMID:29653220|PMID:8981948
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:630	genetic disease		ISO	RGD:10216	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10570920|PMID:11241493|PMID:16083905|PMID:18414213|PMID:20045993|PMID:23281160|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31959876|PMID:32818659|PMID:33151932|PMID:33359139|PMID:36474027
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24614111
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:8398	osteoarthritis		ISO	RGD:10215	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:893	Wilson disease		ISO	RGD:2179	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus (rat)	PMID:27331785|REF_RGD_ID:11340212
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9000351	Diarrhea 9		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20671235
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9000495	Tremor		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9001031	Retrognathia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9001276	Failure to Thrive		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792645
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9002207	Renal Aminoacidurias		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aminoaciduria	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9002514	Neointima		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20671235
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9002801	Recurrence		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22304828
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17510416
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9003279	Joint Dislocations		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9003507	Premature Birth		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9003603	Hemolysis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25247420
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9003703	Coxa Valga		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746|PMID:23064757
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9004080	Aortic Rupture		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2346371|PMID:25449986
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9004866	Ataxia		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9005077	Joint Instability		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9005246	Paralysis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22815746
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9005532	Muscle Weakness		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9005695	Malnutrition		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9006205	Animal Disease Models		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17483305
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9006257	Growth Disorders		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23064757
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:2179	D	RGD:9068941	20200609	RGD			PMID:24927960|REF_RGD_ID:11341676
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25456742
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9007402	Gliosis		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:24919650|PMID:25741868|PMID:28492532
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:10216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9423	blepharitis		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9840	esotropia		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophoria	PMID:18414213|PMID:24919650|PMID:25741868
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9884	muscular dystrophy		ISO	RGD:10216	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:14635105|PMID:25741868|PMID:28492532|PMID:34440436
12135708	ATP7A	ATPase copper transporting alpha	gene	DOID:9970	obesity		ISO	RGD:10216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12135749	CIMIP4	ciliary microtubule inner protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12135758	SBF2	SET binding factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135758	SBF2	SET binding factor 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1354184	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:10932274|PMID:12687498|PMID:15304601|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26392352|PMID:26467025|PMID:27582484|PMID:28492532|PMID:32376792|PMID:9536098
12135758	SBF2	SET binding factor 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1354184	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:12687498|PMID:16199547|PMID:17576681|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:9536098
12135758	SBF2	SET binding factor 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:1354184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IV | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 4	PMID:12687498|PMID:16199547|PMID:17576681|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:9536098
12135758	SBF2	SET binding factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135758	SBF2	SET binding factor 2	gene	DOID:0110190	Charcot-Marie-Tooth disease type 4B2		ISO	RGD:1354184	D	RGD:7240710	20180130	OMIM			
12135758	SBF2	SET binding factor 2	gene	DOID:0110190	Charcot-Marie-Tooth disease type 4B2		ISO	RGD:1354184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B2	PMID:12687498|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532
12135758	SBF2	SET binding factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135758	SBF2	SET binding factor 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1354184	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10932274|PMID:12687498|PMID:15304601|PMID:15477569|PMID:17576681|PMID:21840889|PMID:22730194|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28440294|PMID:28492532|PMID:29590070|PMID:31070812|PMID:32376792|PMID:32906206|PMID:33726816|PMID:34169998|PMID:37091313|PMID:9521281|PMID:9536098
12135758	SBF2	SET binding factor 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:12687498|PMID:17576681|PMID:21840889|PMID:24627108|PMID:25231362|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532|PMID:31070812|PMID:32376792|PMID:9536098
12135758	SBF2	SET binding factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135758	SBF2	SET binding factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135758	SBF2	SET binding factor 2	gene	DOID:12849	autistic disorder		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12135758	SBF2	SET binding factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135758	SBF2	SET binding factor 2	gene	DOID:1909	melanoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12135758	SBF2	SET binding factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135758	SBF2	SET binding factor 2	gene	DOID:3275	thymoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135758	SBF2	SET binding factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354184	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135758	SBF2	SET binding factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135758	SBF2	SET binding factor 2	gene	DOID:630	genetic disease		ISO	RGD:1354184	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12687498|PMID:24290377|PMID:25025039|PMID:25741868|PMID:25873783|PMID:26467025|PMID:28492532
12135758	SBF2	SET binding factor 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12135758	SBF2	SET binding factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135758	SBF2	SET binding factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135758	SBF2	SET binding factor 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: RUNX1-related disorder	PMID:25741868|PMID:28492532
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1601770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:1909	melanoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:3275	thymoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1601770	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135824	PPWD1	peptidylprolyl isomerase domain and WD repeat containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:0060058	lymphoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:10534	stomach cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:1115	sarcoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:1324	lung cancer		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:3275	thymoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1343416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12135852	CIP2A	cellular inhibitor of PP2A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12135889	CFAP210	cilia and flagella associated protein 210	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135889	CFAP210	cilia and flagella associated protein 210	gene	DOID:1115	sarcoma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12135889	CFAP210	cilia and flagella associated protein 210	gene	DOID:3070	high grade glioma		ISO	RGD:2298833	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1314459	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12135905	PGM2	phosphoglucomutase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:3275	thymoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135905	PGM2	phosphoglucomutase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12135905	PGM2	phosphoglucomutase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:10534	stomach cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:1324	lung cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:4362	cervical cancer		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12135923	DDX19A	DEAD-box helicase 19A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135939	ACYP1	acylphosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135939	ACYP1	acylphosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12135939	ACYP1	acylphosphatase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12135951	HDAC8	histone deacetylase 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135951	HDAC8	histone deacetylase 8	gene	DOID:0050581	brachydactyly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular canal defect	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:0060814	Wilson-Turner syndrome		ISO	RGD:1344478	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.164+5G>A (human)	PMID:22889856|REF_RGD_ID:13208817
12135951	HDAC8	histone deacetylase 8	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:25741868
12135951	HDAC8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:7240710	20180130	OMIM			
12135951	HDAC8	histone deacetylase 8	gene	DOID:0080509	Cornelia de Lange syndrome 5		ISO	RGD:1344478	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNELIA DE LANGE SYNDROME 5 | ClinVar Annotator: match by term: Cornelia de Lange syndrome 5 | ClinVar Annotator: match by term: HDAC8-related condition	PMID:16199547|PMID:17576681|PMID:18414213|PMID:19605684|PMID:20301283|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24088041|PMID:24375697|PMID:24403048|PMID:25075551|PMID:25102094|PMID:25326637|PMID:25533962|PMID:25574841|PMID:25640679|PMID:25741868|PMID:25805374|PMID:26463496|PMID:26633545|PMID:26671848|PMID:28492532|PMID:29293505|PMID:30158690|PMID:33587123|PMID:37229200|PMID:37377026|PMID:9536098
12135951	HDAC8	histone deacetylase 8	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1344478	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon (human)	PMID:16771768|REF_RGD_ID:13208819
12135951	HDAC8	histone deacetylase 8	gene	DOID:10488	imperforate anus		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:1059	intellectual disability		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:10763	hypertension		ISO	RGD:1558090	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart (mouse, rat)	PMID:28567090|REF_RGD_ID:13208602
12135951	HDAC8	histone deacetylase 8	gene	DOID:10763	hypertension		ISO	RGD:1562895	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart (mouse, rat)	PMID:28567090|REF_RGD_ID:13208602
12135951	HDAC8	histone deacetylase 8	gene	DOID:10907	microcephaly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:10908	hydrocephalus		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12135951	HDAC8	histone deacetylase 8	gene	DOID:11155	hypohidrosis		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:12215	oligohydramnios		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
12135951	HDAC8	histone deacetylase 8	gene	DOID:1591	renovascular hypertension	treatment	ISO	RGD:1562895	D	RGD:9068941	20200609	RGD			PMID:27673327|REF_RGD_ID:13208809
12135951	HDAC8	histone deacetylase 8	gene	DOID:1657	ventricular septal defect		ISO	RGD:1344478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12135951	HDAC8	histone deacetylase 8	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1344478	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12135951	HDAC8	histone deacetylase 8	gene	DOID:1909	melanoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135951	HDAC8	histone deacetylase 8	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344478	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:15888697|REF_RGD_ID:13208820
12135951	HDAC8	histone deacetylase 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12135951	HDAC8	histone deacetylase 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135951	HDAC8	histone deacetylase 8	gene	DOID:630	genetic disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15146185|PMID:15146186|PMID:17640042|PMID:18414213|PMID:19886810|PMID:20301283|PMID:21320778|PMID:22885700|PMID:22889856|PMID:24038889|PMID:24088041|PMID:24403048|PMID:24718998|PMID:25075551|PMID:25209348|PMID:25741868|PMID:26463496|PMID:26633545|PMID:26671848|PMID:28492532|PMID:28518168|PMID:29758565|PMID:30158690|PMID:32461654|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:670	amphetamine abuse		ISO	RGD:1562895	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:striatum (rat)	PMID:25452209|REF_RGD_ID:9681719
12135951	HDAC8	histone deacetylase 8	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:9000924	Gastrointestinal Motility Disorders		ISO	RGD:1344478	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon (human)	PMID:16771768|REF_RGD_ID:13208819
12135951	HDAC8	histone deacetylase 8	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12135951	HDAC8	histone deacetylase 8	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1558090	D	RGD:9068941	20200609	RGD			PMID:25504627|REF_RGD_ID:13208811
12135951	HDAC8	histone deacetylase 8	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:1562895	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:23868068|REF_RGD_ID:9681716
12135951	HDAC8	histone deacetylase 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344478	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12135951	HDAC8	histone deacetylase 8	gene	DOID:9004992	Apnea		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	
12135951	HDAC8	histone deacetylase 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:9005616	Micrognathism		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	
12135951	HDAC8	histone deacetylase 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344478	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:19605684|PMID:22885700|PMID:24403048|PMID:25075551|PMID:25741868|PMID:26671848|PMID:28492532
12135951	HDAC8	histone deacetylase 8	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:9007661	Dwarfism		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:26671848|PMID:37229200
12135951	HDAC8	histone deacetylase 8	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:21320778|PMID:22885700|PMID:25075551|PMID:25741868|PMID:28492532|PMID:30158690
12135951	HDAC8	histone deacetylase 8	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1344478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:20301283|PMID:22885700|PMID:24088041|PMID:25741868|PMID:26633545|PMID:37229200
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aspiration pneumonia	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:25741868
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050542	Charcot-Marie-Tooth disease type X		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X	PMID:16199547|PMID:17576681|PMID:17701896|PMID:20301734|PMID:20301738|PMID:24033266|PMID:24528855|PMID:24961627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28967191|PMID:29986705|PMID:30177296|PMID:31906484|PMID:32528171|PMID:32781272|PMID:33532242|PMID:38619019|PMID:39763288|PMID:7593598|PMID:8702702|PMID:9536098
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050647	Arts syndrome		ISO	RGD:736625	D	RGD:7240710	20180130	OMIM			
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0050647	Arts syndrome		ISO	RGD:736625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTS SYNDROME | ClinVar Annotator: match by term: Arts syndrome | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE	PMID:17701896|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30177296|PMID:31906484|PMID:32781272|PMID:7593598
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0060699	familial hypocalciuric hypercalcemia		ISO	RGD:736625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis/nephrocalcinosis	PMID:25741868|PMID:26467025|PMID:28492532|PMID:34803094
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5		ISO	RGD:736625	D	RGD:7240710	20180130	OMIM			
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0110210	Charcot-Marie-Tooth disease X-linked recessive 5		ISO	RGD:736625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease X-linked recessive 5 | ClinVar Annotator: match by term: Optic atrophy, neural deafness, and distal neurogenic amyotrophy | ClinVar Annotator: match by term: ROSENBERG-CHUTORIAN SYNDROME	PMID:17701900|PMID:20301731|PMID:24033266|PMID:25182139|PMID:25741868|PMID:25785835|PMID:28492532|PMID:30177296|PMID:31906484|PMID:33493137
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity		ISO	RGD:736625	D	RGD:7240710	20180130	OMIM			
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0111260	phosphoribosylpyrophosphate synthetase superactivity		ISO	RGD:736625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY | ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31906484
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0111739	X-linked deafness 1		ISO	RGD:736625	D	RGD:7240710	20180130	OMIM			
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:0111739	X-linked deafness 1		ISO	RGD:736625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, X-LINKED 1 | ClinVar Annotator: match by term: Deafness, X-linked 1	PMID:20021999|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31906484
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25182139
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:10534	stomach cancer		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:736625	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.S16P (human)	PMID:25491489|REF_RGD_ID:11056008
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:10907	microcephaly		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:1148	polydactyly		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polydactyly	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:12143	neurogenic bladder		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:13189	gout		ISO	RGD:736625	D	RGD:9068941	20200609	RGD		N113S, D182H	PMID:8253776|REF_RGD_ID:1599725
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:1686	glaucoma		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:1826	epilepsy		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:1891	optic nerve disease		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:1909	melanoma		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:630	genetic disease		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:83	cataract		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:736625	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24961627|PMID:25741868|PMID:28492532|PMID:28967191|PMID:3278127|PMID:32781272
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9000363	Hematuria		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9001581	Constipation		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:736625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:1664177|PMID:19161981|PMID:25741868|PMID:26089585|PMID:8253776
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:736625	D	RGD:9068941	20200609	RGD		associated with Gout; DNA:missense mutations:cds:multiple (human)	PMID:7593598|REF_RGD_ID:5134990
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Hearing loss	PMID:28967191
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9004657	Weight Gain		ISO	RGD:736625	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: nonsyndromic sensorineural hearing loss	PMID:25182139
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12135989	PRPS1	phosphoribosyl pyrophosphate synthetase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:1324	lung cancer		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:4362	cervical cancer		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12136000	GABRR1	gamma-aminobutyric acid type A receptor subunit rho1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0060260	ptosis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0070309	absence epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080227	autosomal dominant intellectual developmental disorder 55		ISO	RGD:1317328	D	RGD:7240710	20190315	OMIM			
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080227	autosomal dominant intellectual developmental disorder 55		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 55, WITH SEIZURES | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES	PMID:16199547|PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:29100083|PMID:31656175|PMID:32485575|PMID:33731878|PMID:34532305|PMID:35949226|PMID:36672771
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080553	congenital disorder of glycosylation Iaa		ISO	RGD:1317328	D	RGD:7240710	20190315	OMIM			
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080553	congenital disorder of glycosylation Iaa		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 1aa | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IAA	PMID:16199547|PMID:17576681|PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:29100083|PMID:30348779|PMID:31273557|PMID:31582230|PMID:31656175|PMID:32334381|PMID:32485575|PMID:33111323|PMID:33731878|PMID:34532305|PMID:35949226|PMID:36672771|PMID:36801247|PMID:38291835|PMID:40590478|PMID:9536098
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080855	Parkinsonism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:1317328	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1059	intellectual disability		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10603	glucose intolerance		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1317328	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Primary Microcephaly, Recessive	PMID:24824130|PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:10907	microcephaly		ISO	RGD:1317328	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:11782	astigmatism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12143	neurogenic bladder		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12849	autistic disorder		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:36801247
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:12859	choreatic disease		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chorea	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1307	dementia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1324	lung cancer		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1826	epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:35949226|PMID:36801247
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:1909	melanoma		ISO	RGD:1317328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:2234	focal epilepsy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:3275	thymoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:4080	tricuspid valve insufficiency		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid regurgitation	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:4195	hyperglycemia		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorders of glycosylation	PMID:25066056|PMID:25741868|PMID:28492532|PMID:28842490|PMID:34532305|PMID:35949226|PMID:36672771
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:540	strabismus		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:630	genetic disease		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:767	muscular atrophy		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:8927	learning disability		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9000495	Tremor		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor | ClinVar Annotator: match by term: Tremor	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9000727	Syncope		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9001722	Dysarthria		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9002362	Hyperkinesis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperkinetic movements	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment | ClinVar Annotator: match by term: Mental deterioration	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004657	Weight Gain		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9004866	Ataxia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:36801247
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007001	Bradycardia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007573	Flatfoot		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532|PMID:35949226
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9007722	Myoclonus		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008023	Memory Disorders		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:36801247
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:30718926|PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9452	steatotic liver disease		ISO	RGD:1317328	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: therapeutic	PMID:33812996
12136022	NUS1	NUS1 dehydrodolichyl diphosphate synthase subunit	gene	DOID:9834	hyperopia		ISO	RGD:1317328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532|PMID:35949226
12136031	CAPN12	calpain 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136031	CAPN12	calpain 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136031	CAPN12	calpain 12	gene	DOID:10534	stomach cancer		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136031	CAPN12	calpain 12	gene	DOID:1115	sarcoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136031	CAPN12	calpain 12	gene	DOID:12849	autistic disorder		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: autism	
12136031	CAPN12	calpain 12	gene	DOID:1909	melanoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136031	CAPN12	calpain 12	gene	DOID:4362	cervical cancer		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136031	CAPN12	calpain 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136031	CAPN12	calpain 12	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136031	CAPN12	calpain 12	gene	DOID:5041	esophageal cancer		ISO	RGD:1316482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136031	CAPN12	calpain 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136031	CAPN12	calpain 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136031	CAPN12	calpain 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:1115	sarcoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:1324	lung cancer		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:1909	melanoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:3275	thymoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1349211	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:34961328
12136048	NBEAL1	neurobeachin like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1349211	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136048	NBEAL1	neurobeachin like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349211	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:10283	prostate cancer		ISO	RGD:1320881	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:10283	prostate cancer		ISO	RGD:1320881	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:1909	melanoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:3275	thymoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12136121	FAM13C	family with sequence similarity 13 member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320881	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136148	RWDD3	RWD domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136148	RWDD3	RWD domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136148	RWDD3	RWD domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:1115	sarcoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1344077	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136156	PPP4R4	protein phosphatase 4 regulatory subunit 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344077	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136184	ARL4D	ADP ribosylation factor like GTPase 4D	gene	DOID:0080600	COVID-19		ISO	RGD:1315741	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12136184	ARL4D	ADP ribosylation factor like GTPase 4D	gene	DOID:1115	sarcoma		ISO	RGD:1315741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136184	ARL4D	ADP ribosylation factor like GTPase 4D	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12136184	ARL4D	ADP ribosylation factor like GTPase 4D	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:38922859
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:0080178	mucositis		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mucositis	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:1059	intellectual disability		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:1826	epilepsy		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:3070	high grade glioma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:3275	thymoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:4362	cervical cancer		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:5041	esophageal cancer		ISO	RGD:1601864	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:540	strabismus		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:630	genetic disease		ISO	RGD:1601864	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1601864	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9000918	Disease Progression		ISO	RGD:1601864	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9001541	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2		ISO	RGD:1601864	D	RGD:7240710	20190315	OMIM			
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9001541	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2		ISO	RGD:1601864	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 | ClinVar Annotator: match by term: NAXD-related condition	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9004866	Ataxia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:28492532|PMID:30576410|PMID:31755961|PMID:32462209
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136197	NAXD	NAD(P)HX dehydratase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:0050602	triple-A syndrome		ISO	RGD:1318625	D	RGD:7240710	20180130	OMIM			
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:0050602	triple-A syndrome		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: AAAS-related condition | ClinVar Annotator: match by term: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME | ClinVar Annotator: match by term: ACHALASIA-ALACRIMA SYNDROME | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrima syndrome | ClinVar Annotator: match by term: Achalasia-addisonianism-alacrimia syndrome | ClinVar Annotator: match by term: Glucocorticoid deficiency with achalasia | ClinVar Annotator: match by term: triple-A syndrome	PMID:11062474|PMID:11159947|PMID:11701718|PMID:12429595|PMID:12548737|PMID:12700313|PMID:12730363|PMID:12752575|PMID:14646395|PMID:15173230|PMID:15516781|PMID:15666842|PMID:15690314|PMID:16199547|PMID:16609705|PMID:16938764|PMID:17911039|PMID:18261130|PMID:18426811|PMID:18615337|PMID:18953174|PMID:20051279|PMID:20447142|PMID:20674935|PMID:21626165|PMID:21656342|PMID:22538409|PMID:22824007|PMID:23073554|PMID:24790383|PMID:25741868|PMID:26595337|PMID:27133709|PMID:27414811|PMID:27618595|PMID:28492532|PMID:28655339|PMID:29180348|PMID:29255950|PMID:29383495|PMID:29866068|PMID:29874194|PMID:30069287|PMID:30381913|PMID:30612286|PMID:31069529|PMID:31600784|PMID:31937715|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:33247909|PMID:34867779|PMID:35570467|PMID:38585542
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:10907	microcephaly		ISO	RGD:1318625	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:1115	sarcoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:1826	epilepsy		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:5041	esophageal cancer		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:630	genetic disease		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:20499090|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9000837	Esophageal Stenosis		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Esophageal stricture	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9001981	Weight Loss		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Weight loss	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1318625	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9004034	Alacrima		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Alacrima	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11062474|PMID:14646395|PMID:25741868|PMID:28492532|PMID:29874194|PMID:30381913
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9006024	Hypotension		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: low blood pressure	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9006617	Fatigue		ISO	RGD:1318625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1318625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:11159947|PMID:11701718|PMID:12429595|PMID:15666842|PMID:16609705|PMID:18615337|PMID:21656342|PMID:22538409|PMID:23073554|PMID:25741868|PMID:28492532|PMID:28655339|PMID:31069529|PMID:31939195|PMID:32146693|PMID:32185032|PMID:32700293|PMID:34867779
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136207	AAAS	aladin WD repeat nucleoporin	gene	DOID:9164	achalasia		ISO	RGD:1318625	D	RGD:9068941	20200609	RGD			PMID:16098009|REF_RGD_ID:1598514
12136241	XKR4	XK related 4	gene	DOID:1115	sarcoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136241	XKR4	XK related 4	gene	DOID:1909	melanoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136241	XKR4	XK related 4	gene	DOID:303	substance-related disorder		ISO	RGD:1606184	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12136241	XKR4	XK related 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136241	XKR4	XK related 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1606184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:1115	sarcoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:1324	lung cancer		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:3275	thymoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:6039	uveal melanoma		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136268	CCDC13	coiled-coil domain containing 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350707	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:0060058	lymphoma		ISO	RGD:1312218	D	RGD:9068941	20230413	RGD			PMID:11423979|REF_RGD_ID:1599865
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition		ISO	RGD:1312218	D	RGD:7240710	20230125	OMIM			
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:0060982	mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition		ISO	RGD:1312218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition	PMID:25741868
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:0080141	mosaic variegated aneuploidy syndrome 1		ISO	RGD:1312218	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1	PMID:25741868
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312218	D	RGD:7240710	20180418	OMIM			
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312218	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9000466	Prostate Cancer, Somatic		ISO	RGD:1312218	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROSTATE CANCER, SOMATIC	PMID:25741868
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20200609	RGD			PMID:11423979|REF_RGD_ID:1599865
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23666239
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1312218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1312218	D	RGD:9068941	20200609	RGD			PMID:11423979|REF_RGD_ID:1599865
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312218	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136321	MAD1L1	mitotic arrest deficient 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312218	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:0080099	myopathy, lactic acidosis, and sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial myopathy and sideroblastic anemia | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia	PMID:15108122|PMID:15772074|PMID:15971356|PMID:17056637|PMID:18648068|PMID:19731322|PMID:25058219|PMID:25741868|PMID:26556812|PMID:28492532|PMID:38450158|PMID:39148116|PMID:40438980
12136362	PUS1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:7240710	20190320	OMIM			
12136362	PUS1	pseudouridine synthase 1	gene	DOID:0111185	myopathy, lactic acidosis, and sideroblastic anemia 1		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 | ClinVar Annotator: match by term: Myopathy, lactic acidosis, and sideroblastic anemia 1 | ClinVar Annotator: match by term: PUS1-related condition	PMID:17056637|PMID:17576681|PMID:19731322|PMID:23707380|PMID:25058219|PMID:25227147|PMID:25741868|PMID:26556812|PMID:27374853|PMID:28492532|PMID:9536098
12136362	PUS1	pseudouridine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136362	PUS1	pseudouridine synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323553	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12136362	PUS1	pseudouridine synthase 1	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1323553	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Mitochondrial Myopathies	PMID:25741868|PMID:28492532
12136362	PUS1	pseudouridine synthase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1323553	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532
12136362	PUS1	pseudouridine synthase 1	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1323553	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia | ClinVar Annotator: match by term: sideroblastic anemia	PMID:25741868|PMID:28492532
12136362	PUS1	pseudouridine synthase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1323553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136362	PUS1	pseudouridine synthase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1323553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136362	PUS1	pseudouridine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136377	UBE2E2	ubiquitin conjugating enzyme E2 E2	gene	DOID:0050868	hepatocellular adenoma		ISO	RGD:1346022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27914986
12136377	UBE2E2	ubiquitin conjugating enzyme E2 E2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136377	UBE2E2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136377	UBE2E2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1346022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20818381
12136377	UBE2E2	ubiquitin conjugating enzyme E2 E2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1346022	D	RGD:9068941	20231026	RGD		associated with Environmental Illness; DNA:SNP:: (rs1496653) (human)	PMID:27281273|REF_RGD_ID:401850598
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1347901	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136391	SCGN	secretagogin, EF-hand calcium binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136409	C1GALT1C1	C1GALT1 specific chaperone 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136409	C1GALT1C1	C1GALT1 specific chaperone 1	gene	DOID:0080520	Tn polyagglutination syndrome		ISO	RGD:1344219	D	RGD:7240710	20180130	OMIM			
12136409	C1GALT1C1	C1GALT1 specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:7240710	20230830	OMIM			
12136409	C1GALT1C1	C1GALT1 specific chaperone 1	gene	DOID:9002623	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE		ISO	RGD:1344219	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: C1GALT1C1-related condition | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature | ClinVar Annotator: match by term: hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature	PMID:25741868|PMID:28492532|PMID:36599939|PMID:37216524|PMID:39949072
12136409	C1GALT1C1	C1GALT1 specific chaperone 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:1909	melanoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136418	PHTF1	putative homeodomain transcription factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353546	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12136452	FAM229A	family with sequence similarity 229 member A	gene	DOID:2394	ovarian cancer		ISO	RGD:7204883	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12136459	ZNF10	zinc finger protein 10	gene	DOID:1115	sarcoma		ISO	RGD:1342937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136459	ZNF10	zinc finger protein 10	gene	DOID:1324	lung cancer		ISO	RGD:1342937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136459	ZNF10	zinc finger protein 10	gene	DOID:3275	thymoma		ISO	RGD:1342937	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136459	ZNF10	zinc finger protein 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1342937	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136459	ZNF10	zinc finger protein 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1342937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12136459	ZNF10	zinc finger protein 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342937	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136554	RPS15	ribosomal protein S15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136554	RPS15	ribosomal protein S15	gene	DOID:3892	insulinoma		ISO	RGD:62026	D	RGD:9068941	20200609	RGD			PMID:3019805|REF_RGD_ID:61740
12136554	RPS15	ribosomal protein S15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736357	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136554	RPS15	ribosomal protein S15	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136554	RPS15	ribosomal protein S15	gene	DOID:9000918	Disease Progression		ISO	RGD:736357	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136560	SEC23IP	SEC23 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:10907	microcephaly		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:10965	spastic diplegia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:1115	sarcoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:1909	melanoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322966	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:6039	uveal melanoma		ISO	RGD:1322966	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136591	KPNA4	karyopherin subunit alpha 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:10534	stomach cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:1115	sarcoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:1324	lung cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:1909	melanoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:4362	cervical cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322392	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136615	PRUNE2	prune homolog 2 with BCH domain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322392	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:1115	sarcoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:1909	melanoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:3275	thymoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1354376	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354376	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136644	NOLC1	nucleolar and coiled-body phosphoprotein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136668	TMEM181	transmembrane protein 181	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136668	TMEM181	transmembrane protein 181	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136668	TMEM181	transmembrane protein 181	gene	DOID:10534	stomach cancer		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136668	TMEM181	transmembrane protein 181	gene	DOID:1909	melanoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136668	TMEM181	transmembrane protein 181	gene	DOID:4362	cervical cancer		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136668	TMEM181	transmembrane protein 181	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136668	TMEM181	transmembrane protein 181	gene	DOID:5041	esophageal cancer		ISO	RGD:1350892	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136668	TMEM181	transmembrane protein 181	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136668	TMEM181	transmembrane protein 181	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136668	TMEM181	transmembrane protein 181	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:0050453	lissencephaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:1143	exotropia		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:11782	astigmatism		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:12143	neurogenic bladder		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1347703	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:305	carcinoma		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:630	genetic disease		ISO	RGD:1347703	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347703	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1347703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
12136691	BASP1	brain abundant membrane attached signal protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347703	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136696	LOC100682968	zinc finger protein 420	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349955	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136696	LOC100682968	zinc finger protein 420	gene	DOID:4362	cervical cancer		ISO	RGD:1349955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136717	MIR194	microRNA mir-194	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348209	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28844483
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:3275	thymoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:4362	cervical cancer		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1322786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:630	genetic disease		ISO	RGD:1322786	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136739	EPB41L5	erythrocyte membrane protein band 4.1 like 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136785	PGA	pepsinogen 5, group I (pepsinogen A)	gene	DOID:11963	esophagitis		ISO	RGD:1350538	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12928072
12136785	PGA	pepsinogen 5, group I (pepsinogen A)	gene	DOID:4362	cervical cancer		ISO	RGD:1350538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136785	PGA	pepsinogen 5, group I (pepsinogen A)	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12136785	PGA	pepsinogen 5, group I (pepsinogen A)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136785	PGA	pepsinogen 5, group I (pepsinogen A)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11678552|PMID:12501224|PMID:12655553|PMID:17096675|PMID:17924342|PMID:19786003|PMID:23514811|PMID:24368688|PMID:25087612|PMID:25741868|PMID:26666653|PMID:27121329|PMID:28492532|PMID:31623983|PMID:33465300|PMID:8659548
12136798	PAH	phenylalanine hydroxylase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
12136798	PAH	phenylalanine hydroxylase	gene	DOID:0080855	Parkinsonism		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:10479481|PMID:11486900|PMID:11524738|PMID:12409276|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:15171997|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17935162|PMID:18294361|PMID:18299955|PMID:19062537|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23430547|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25087612|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:27121329|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31589614|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9429153|PMID:9634518
12136798	PAH	phenylalanine hydroxylase	gene	DOID:0090106	BH4-deficient hyperphenylalaninemia A		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A	PMID:10196714|PMID:10234516|PMID:10479481|PMID:10693064|PMID:11385716|PMID:14726806|PMID:15557004|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:19948162|PMID:21147011|PMID:21871829|PMID:22330942|PMID:22513348|PMID:23357515|PMID:23842451|PMID:24350308|PMID:25741868|PMID:26481238|PMID:26803807|PMID:27121329|PMID:28492532|PMID:30626930|PMID:31589614|PMID:32778825|PMID:33101986|PMID:33465300|PMID:34828281|PMID:7707686|PMID:8406445|PMID:8632937|PMID:8659548|PMID:9012412|PMID:9634518|PMID:9825986
12136798	PAH	phenylalanine hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:735410	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12136798	PAH	phenylalanine hydroxylase	gene	DOID:1059	intellectual disability		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10479481|PMID:11486900|PMID:11524738|PMID:12409276|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:19062537|PMID:21147011|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23357515|PMID:23430547|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25087612|PMID:25155776|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27121329|PMID:27682710|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31332730|PMID:31589614|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8533759|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9298832|PMID:9429153|PMID:9634518
12136798	PAH	phenylalanine hydroxylase	gene	DOID:11830	myopia		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:11486900|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:21147011|PMID:22330942|PMID:23357515|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25155776|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27682710|PMID:28492532|PMID:31332730|PMID:8533759|PMID:9298832
12136798	PAH	phenylalanine hydroxylase	gene	DOID:12849	autistic disorder		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10479481|PMID:11486900|PMID:11524738|PMID:12409276|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:15171997|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17935162|PMID:18294361|PMID:18299955|PMID:19062537|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23430547|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25087612|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:27121329|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31589614|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9429153|PMID:9634518
12136798	PAH	phenylalanine hydroxylase	gene	DOID:13250	diarrhea		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11678552|PMID:12501224|PMID:12655553|PMID:17096675|PMID:17924342|PMID:19786003|PMID:23514811|PMID:24368688|PMID:25087612|PMID:25741868|PMID:26666653|PMID:27121329|PMID:28492532|PMID:31623983|PMID:33465300|PMID:8659548
12136798	PAH	phenylalanine hydroxylase	gene	DOID:1596	depressive disorder		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Depression	PMID:11486900|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:21147011|PMID:22330942|PMID:23357515|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25155776|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27682710|PMID:28492532|PMID:31332730|PMID:8533759|PMID:9298832
12136798	PAH	phenylalanine hydroxylase	gene	DOID:1826	epilepsy		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10394930|PMID:10479481|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11486900|PMID:11524738|PMID:11678552|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:19062537|PMID:19786003|PMID:21147011|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23357515|PMID:23430547|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25155776|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27121329|PMID:27682710|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31332730|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8533759|PMID:8659548|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9298832|PMID:9429153|PMID:9634518
12136798	PAH	phenylalanine hydroxylase	gene	DOID:1909	melanoma		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:3275	thymoma		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:4362	cervical cancer		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:480	movement disease		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11678552|PMID:12501224|PMID:12655553|PMID:17096675|PMID:17924342|PMID:19786003|PMID:23514811|PMID:24368688|PMID:25087612|PMID:25741868|PMID:26666653|PMID:27121329|PMID:28492532|PMID:31623983|PMID:33465300|PMID:8659548
12136798	PAH	phenylalanine hydroxylase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:535	sleep disorder		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:10479481|PMID:11486900|PMID:11524738|PMID:12409276|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:15171997|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17935162|PMID:18294361|PMID:18299955|PMID:19062537|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23430547|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25087612|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:27121329|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31589614|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9429153|PMID:9634518
12136798	PAH	phenylalanine hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:735410	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10196714|PMID:10234516|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10479481|PMID:10495930|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10980574|PMID:11139255|PMID:11161839|PMID:11180595|PMID:11244681|PMID:11326337|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11914042|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655544|PMID:12655546|PMID:12655548|PMID:12655550|PMID:12655553|PMID:12655554|PMID:1301187|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1312992|PMID:1349576|PMID:1355066|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15793771|PMID:1601425|PMID:1609797|PMID:16198137|PMID:16253218|PMID:16256386|PMID:16290003|PMID:16338627|PMID:1671768|PMID:1671770|PMID:1672290|PMID:1672294|PMID:1679030|PMID:1682495|PMID:16879198|PMID:17096675|PMID:17502162|PMID:17576681|PMID:17630668|PMID:1769645|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18590700|PMID:18937047|PMID:18956252|PMID:18985011|PMID:19036622|PMID:19062537|PMID:19147918|PMID:19292873|PMID:19394257|PMID:1971144|PMID:1971147|PMID:1981599|PMID:19915519|PMID:19948162|PMID:1998345|PMID:2006152|PMID:20082265|PMID:2014036|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21228398|PMID:21307867|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22112818|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22975760|PMID:2309142|PMID:2323773|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23457044|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23932990|PMID:24048906|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24705691|PMID:24941924|PMID:25087612|PMID:25155776|PMID:25333069|PMID:25525159|PMID:25563416|PMID:25596310|PMID:2564729|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25894915|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26600521|PMID:26666653|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27243974|PMID:27264808|PMID:27469133|PMID:27620137|PMID:27682710|PMID:28174686|PMID:28492532|PMID:28676969|PMID:2884570|PMID:28851938|PMID:28982351|PMID:29025426|PMID:29102225|PMID:29288420|PMID:29317692|PMID:29473999|PMID:29499199|PMID:29749107|PMID:29771303|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30311390|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30747360|PMID:30963030|PMID:31164572|PMID:31332730|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34233069|PMID:34828281|PMID:35281663|PMID:35405047|PMID:3615198|PMID:36537053|PMID:36577126|PMID:36937954|PMID:7556322|PMID:7707686|PMID:7726156|PMID:7807961|PMID:7833927|PMID:7981714|PMID:8051931|PMID:8088845|PMID:8097262|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8320703|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8533759|PMID:8535445|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8889590|PMID:8981952|PMID:8990013|PMID:9012412|PMID:9101291|PMID:9254847|PMID:9298832|PMID:9359039|PMID:9399896|PMID:9429153|PMID:9450897|PMID:9521426|PMID:9536098|PMID:9634518|PMID:9781015|PMID:9825986|PMID:9843368|PMID:9860305
12136798	PAH	phenylalanine hydroxylase	gene	DOID:630	genetic disease		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10196714|PMID:10234516|PMID:10408782|PMID:10479481|PMID:10527663|PMID:10598814|PMID:10679941|PMID:10693064|PMID:11139255|PMID:11180595|PMID:11244681|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:12409276|PMID:12501224|PMID:12640344|PMID:12644360|PMID:12655546|PMID:12655550|PMID:12655553|PMID:1301187|PMID:14722928|PMID:14726806|PMID:15171997|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15793771|PMID:16198137|PMID:16290003|PMID:1679030|PMID:16879198|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18937047|PMID:18956252|PMID:19062537|PMID:19147918|PMID:19948162|PMID:20082265|PMID:20217238|PMID:2071149|PMID:21147011|PMID:21820508|PMID:21871829|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:22841515|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23559577|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23932990|PMID:24048906|PMID:24190797|PMID:24350308|PMID:24401910|PMID:24705691|PMID:25087612|PMID:25155776|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26322415|PMID:26351554|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:26990548|PMID:27121329|PMID:27264808|PMID:27682710|PMID:28492532|PMID:28676969|PMID:28851938|PMID:29102225|PMID:29317692|PMID:29473999|PMID:29499199|PMID:30037505|PMID:30050108|PMID:30159852|PMID:30311390|PMID:30487145|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30747360|PMID:31332730|PMID:31355225|PMID:31589614|PMID:31623983|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33375644|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:7707686|PMID:8051931|PMID:8268925|PMID:8406445|PMID:8533759|PMID:8632937|PMID:8659548|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9012412|PMID:9298832|PMID:9399896|PMID:9429153|PMID:9521426|PMID:9634518|PMID:9825986|PMID:9860305
12136798	PAH	phenylalanine hydroxylase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11678552|PMID:12501224|PMID:12655553|PMID:17096675|PMID:17924342|PMID:19786003|PMID:23514811|PMID:24368688|PMID:25087612|PMID:25741868|PMID:26666653|PMID:27121329|PMID:28492532|PMID:31623983|PMID:33465300|PMID:8659548
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9003133	Hypertelorism		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:10479481|PMID:10679941|PMID:11180595|PMID:11385716|PMID:11524738|PMID:12655553|PMID:1301187|PMID:15464430|PMID:17935162|PMID:18937047|PMID:20082265|PMID:21953985|PMID:22841515|PMID:23430918|PMID:23500595|PMID:24190797|PMID:24350308|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26666653|PMID:28492532|PMID:29102225|PMID:30037505|PMID:30648773|PMID:31355225|PMID:31623983|PMID:33375644|PMID:33465300|PMID:34828281|PMID:8533759|PMID:8632937|PMID:9012412
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:10479481|PMID:10679941|PMID:11180595|PMID:11385716|PMID:11524738|PMID:12655553|PMID:1301187|PMID:15464430|PMID:17935162|PMID:18937047|PMID:20082265|PMID:21953985|PMID:22841515|PMID:23430918|PMID:23500595|PMID:24190797|PMID:24350308|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26666653|PMID:28492532|PMID:29102225|PMID:30037505|PMID:30648773|PMID:31355225|PMID:31623983|PMID:33375644|PMID:33465300|PMID:34828281|PMID:8533759|PMID:8632937|PMID:9012412
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:10479481|PMID:10679941|PMID:11180595|PMID:11385716|PMID:11524738|PMID:12655553|PMID:1301187|PMID:15464430|PMID:17935162|PMID:18937047|PMID:20082265|PMID:21953985|PMID:22841515|PMID:23430918|PMID:23500595|PMID:24190797|PMID:24350308|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26666653|PMID:28492532|PMID:29102225|PMID:30037505|PMID:30648773|PMID:31355225|PMID:31623983|PMID:33375644|PMID:33465300|PMID:34828281|PMID:8533759|PMID:8632937|PMID:9012412
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9005466	Language Development Disorders		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:11486900|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:21147011|PMID:22330942|PMID:23357515|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25155776|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27682710|PMID:28492532|PMID:31332730|PMID:8533759|PMID:9298832
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10479481|PMID:12655546|PMID:23430918|PMID:24368688|PMID:25741868|PMID:26666653|PMID:28492532|PMID:29102225|PMID:30037505|PMID:32668217|PMID:8406445|PMID:8632937|PMID:9781015
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11486900|PMID:11678552|PMID:12501224|PMID:12655553|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:17096675|PMID:17924342|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:19786003|PMID:21147011|PMID:22330942|PMID:23357515|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:24368688|PMID:25087612|PMID:25155776|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27121329|PMID:27682710|PMID:28492532|PMID:31332730|PMID:31623983|PMID:33465300|PMID:8533759|PMID:8659548|PMID:9298832
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9006253	Ketosis		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ketonuria	PMID:11461190|PMID:12501224|PMID:1679030|PMID:16879198|PMID:17935162|PMID:20217238|PMID:21147011|PMID:21953985|PMID:22513348|PMID:23430547|PMID:23500595|PMID:25596310|PMID:25741868|PMID:26322415|PMID:26467025|PMID:26481238|PMID:26803807|PMID:28492532|PMID:30159852|PMID:30668579|PMID:31355225|PMID:31623983|PMID:33465300|PMID:8889590|PMID:9399896|PMID:9521426
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735410	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735410	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:735410	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:10394930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10767174|PMID:11180595|PMID:11385716|PMID:11678552|PMID:12501224|PMID:12655553|PMID:17096675|PMID:17924342|PMID:19786003|PMID:23514811|PMID:24368688|PMID:25087612|PMID:25741868|PMID:26666653|PMID:27121329|PMID:28492532|PMID:31623983|PMID:33465300|PMID:8659548
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9007661	Dwarfism		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10479481|PMID:10679941|PMID:11180595|PMID:11385716|PMID:11524738|PMID:12655553|PMID:1301187|PMID:15464430|PMID:17935162|PMID:18937047|PMID:20082265|PMID:21953985|PMID:22841515|PMID:23430918|PMID:23500595|PMID:24190797|PMID:24350308|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26666653|PMID:28492532|PMID:29102225|PMID:30037505|PMID:30648773|PMID:31355225|PMID:31623983|PMID:33375644|PMID:33465300|PMID:34828281|PMID:8533759|PMID:8632937|PMID:9012412
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:11486900|PMID:1301187|PMID:15171997|PMID:15557004|PMID:16198137|PMID:17935162|PMID:18294361|PMID:18299955|PMID:18538294|PMID:18956252|PMID:21147011|PMID:22330942|PMID:23357515|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25155776|PMID:25596310|PMID:25741868|PMID:26467025|PMID:26481238|PMID:26666653|PMID:26803807|PMID:27682710|PMID:28492532|PMID:31332730|PMID:8533759|PMID:9298832
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9008397	Maternal Phenylketonuria		ISO	RGD:735410	D	RGD:9068941	20200609	RGD			PMID:14654659|REF_RGD_ID:1601526
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:7240710	20180130	OMIM			
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30648773|PMID:30667134|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:33101986|PMID:33116287|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:34039861|PMID:35690318|PMID:3615198|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7860062|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria	PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Hyperphenylalaninemia, non-phenylketonuric | ClinVar Annotator: match by term: Phenylketonuria	PMID:24667082|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:36537053|PMID:36577126|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:36537053|PMID:36577126|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:11434725|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:16338627|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:16770791|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17397052|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:2230084|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35085585|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:3615198|PMID:36537053|PMID:36577126|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9427161|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:11434725|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:16338627|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:16770791|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17397052|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19244369|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:2230084|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23457044|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29102225|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29771303|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31343797|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32853555|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34405919|PMID:34426522|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35085585|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:36046396|PMID:3615198|PMID:36537053|PMID:36574877|PMID:36577126|PMID:36646061|PMID:36937954|PMID:37447372|PMID:37837865|PMID:38068761|PMID:38105685|PMID:38555716|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9427161|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28593914|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29102225|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29771303|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31343797|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:31998365|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32853555|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33625639|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34405919|PMID:34426522|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35085585|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:36046396|PMID:36104584|PMID:3615198|PMID:36537053|PMID:36574877|PMID:36577126|PMID:36646061|PMID:36755623|PMID:36845377|PMID:36937954|PMID:37189584|PMID:37447372|PMID:37509538|PMID:37837865|PMID:38068761|PMID:38105685|PMID:38481932|PMID:38555716|PMID:38731816|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9427161|PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:10196714|PMID:10200057|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10720436|PMID:10767174|PMID:10767175|PMID:10875932|PMID:10947211|PMID:10980574|PMID:11051201|PMID:11096279|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11207989|PMID:11214902|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11360625|PMID:11385716|PMID:11434725|PMID:1146119|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12126628|PMID:12173030|PMID:12210276|PMID:12409276|PMID:12501224|PMID:12542580|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655548|PMID:12655550|PMID:12655551|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12836060|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301202|PMID:1301947|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1360590|PMID:1363786|PMID:1363837|PMID:1363838|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15110327|PMID:15159646|PMID:15171997|PMID:15300621|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:1555700|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:1601425|PMID:16051511|PMID:16091306|PMID:1609797|PMID:16143554|PMID:16165389|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:16338627|PMID:1639423|PMID:16402341|PMID:16504182|PMID:16545551|PMID:16601866|PMID:1671768|PMID:1671770|PMID:1671810|PMID:1671881|PMID:1672290|PMID:1672294|PMID:16755493|PMID:16765994|PMID:16770791|PMID:1679030|PMID:1682234|PMID:1682235|PMID:1682495|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17397052|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17630668|PMID:1769645|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18321666|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18937293|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19036622|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19244369|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:1971144|PMID:1971147|PMID:1975096|PMID:1975559|PMID:1978553|PMID:19786003|PMID:1981599|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1997387|PMID:1998345|PMID:20017307|PMID:2006152|PMID:20063067|PMID:20082265|PMID:20123475|PMID:2014036|PMID:20140859|PMID:2014802|PMID:20179079|PMID:2018035|PMID:20187763|PMID:20188615|PMID:20301677|PMID:2035532|PMID:2044609|PMID:20457534|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21837404|PMID:21871829|PMID:21890392|PMID:21915151|PMID:21937252|PMID:21953985|PMID:22106832|PMID:22112818|PMID:2230084|PMID:22300847|PMID:22330942|PMID:22333022|PMID:22388642|PMID:22391997|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22917871|PMID:22921945|PMID:22975760|PMID:22995991|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:2323773|PMID:23271928|PMID:23348723|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430859|PMID:23430918|PMID:23457044|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23757202|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28593914|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29102225|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29771303|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30337205|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31343797|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:31998365|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32778825|PMID:32801363|PMID:32853555|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33625639|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34405919|PMID:34426522|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35085585|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:36046396|PMID:36104584|PMID:3615198|PMID:36537053|PMID:36574877|PMID:36577126|PMID:36646061|PMID:36755623|PMID:36787440|PMID:36845377|PMID:36937954|PMID:37189584|PMID:37257178|PMID:37447372|PMID:37509538|PMID:37837865|PMID:38068761|PMID:38105685|PMID:38481932|PMID:38555716|PMID:38731816|PMID:39039323|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9427161
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Phenylketonuria	PMID:9429153|PMID:9450182|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9642259|PMID:9781015|PMID:9792411|PMID:9799096|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232|PMID:9950317
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BH4-Deficient Hyperphenylalaninemia | ClinVar Annotator: match by term: Phenylketonuria	PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24510568|PMID:24628256|PMID:24661517|PMID:24667082|PMID:24705691|PMID:24765287|PMID:24767306|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25333069|PMID:25449068|PMID:25453233|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25563416|PMID:25596310|PMID:25640679|PMID:2564729|PMID:25725806|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:25952249|PMID:2606484|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26892377|PMID:26982749|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27308838|PMID:27413125|PMID:27469133|PMID:27578510|PMID:27620137|PMID:27623981|PMID:27682710|PMID:27760515|PMID:2816939|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952|PMID:28492532|PMID:28593914|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:2884570|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29025426|PMID:29032371|PMID:29102225|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29684050|PMID:29731766|PMID:29749107|PMID:29771303|PMID:29892150|PMID:29997390|PMID:30037505|PMID:30050108|PMID:30067850|PMID:3008810|PMID:30159852|PMID:30199612|PMID:30275481|PMID:30311390|PMID:30337205|PMID:30367646|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:3093157|PMID:30941500|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31164572|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31343797|PMID:31355225|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:31998365|PMID:32039316|PMID:32106880|PMID:32533790|PMID:32668217|PMID:32720330|PMID:32778825|PMID:32801363|PMID:32853555|PMID:32860008|PMID:32893076|PMID:32905092|PMID:32906206|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33625639|PMID:33677757|PMID:33803550|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34405919|PMID:34426522|PMID:34653385|PMID:34828281|PMID:35079019|PMID:35085585|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35339094|PMID:35405047|PMID:35690318|PMID:36046396|PMID:36104584|PMID:3615198|PMID:36537053|PMID:36574877|PMID:36577126|PMID:36646061|PMID:36755623|PMID:36787440|PMID:36845377|PMID:36937954|PMID:37189584|PMID:37257178|PMID:37447372|PMID:37509538|PMID:37837865|PMID:38068761|PMID:38105685|PMID:38481932|PMID:38555716|PMID:38731816|PMID:39039323|PMID:7545869|PMID:7556322|PMID:7581408|PMID:7668259|PMID:7707686|PMID:7726156|PMID:7741023|PMID:7766951|PMID:7766957|PMID:7807961|PMID:7833927|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7914195|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097261|PMID:8097262|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8364546|PMID:8364593|PMID:8370573|PMID:8401510|PMID:8406445|PMID:8445621|PMID:8487271|PMID:8518802|PMID:8528673|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8592329|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8825928|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990013|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9101291|PMID:9169088|PMID:9254847|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9380432|PMID:9391881|PMID:9399840
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: PHENYLKETONURIA | ClinVar Annotator: match by term: Phenylketonuria | ClinVar Annotator: match by term: Phenylketonurias | ClinVar Annotator: match by term: phenylketonuria	PMID:10196714|PMID:10234516|PMID:10356314|PMID:10356315|PMID:10394930|PMID:10408782|PMID:10429004|PMID:10471838|PMID:10472529|PMID:10479481|PMID:10484807|PMID:10495930|PMID:10527663|PMID:10541324|PMID:10598814|PMID:10679941|PMID:10685924|PMID:10693064|PMID:10767174|PMID:10875932|PMID:10980574|PMID:11139255|PMID:11142755|PMID:11161825|PMID:11161839|PMID:11180595|PMID:11243094|PMID:11244681|PMID:11295882|PMID:11326337|PMID:11328945|PMID:11385716|PMID:11461190|PMID:11461196|PMID:11486900|PMID:11524738|PMID:11581453|PMID:11588399|PMID:11678552|PMID:11696894|PMID:11708866|PMID:11914042|PMID:11935335|PMID:11999982|PMID:12173030|PMID:12409276|PMID:12501224|PMID:12554741|PMID:12640344|PMID:12644360|PMID:12649065|PMID:12655544|PMID:12655546|PMID:12655547|PMID:12655550|PMID:12655552|PMID:12655553|PMID:12655554|PMID:12765842|PMID:12777691|PMID:12905706|PMID:12971421|PMID:1301187|PMID:1301193|PMID:1301200|PMID:1301201|PMID:1301943|PMID:1307609|PMID:1312992|PMID:1349566|PMID:1349576|PMID:1355066|PMID:1358789|PMID:1363786|PMID:14568534|PMID:14654665|PMID:14681498|PMID:14722928|PMID:14726806|PMID:14741196|PMID:15159646|PMID:15171997|PMID:15319459|PMID:15459954|PMID:15464430|PMID:15503242|PMID:15557004|PMID:15589814|PMID:15633889|PMID:15793771|PMID:15943553|PMID:16051511|PMID:16143554|PMID:16167124|PMID:16176881|PMID:16198137|PMID:16199547|PMID:16253218|PMID:16256386|PMID:16290003|PMID:1639423|PMID:16504182|PMID:16601866|PMID:1671810|PMID:16755493|PMID:16765994|PMID:16770791|PMID:1677425|PMID:1679030|PMID:16875683|PMID:16879198|PMID:16931086|PMID:17096675|PMID:17221866|PMID:17408607|PMID:17502162|PMID:17513426|PMID:17557229|PMID:17576681|PMID:17627389|PMID:17846916|PMID:17924342|PMID:17935162|PMID:18247293|PMID:18294361|PMID:18299955|PMID:18346471|PMID:18394115|PMID:18447256|PMID:18493213|PMID:18538294|PMID:18590700|PMID:18592473|PMID:18798839|PMID:18937047|PMID:18956252|PMID:18985011|PMID:19015950|PMID:19038240|PMID:19062537|PMID:19099685|PMID:19147918|PMID:19292873|PMID:19394257|PMID:19444284|PMID:19609714|PMID:1968617|PMID:19786003|PMID:19913839|PMID:19915519|PMID:19948162|PMID:1998345|PMID:20082265|PMID:2014036|PMID:20140859|PMID:20179079|PMID:20187763|PMID:20188615|PMID:20217238|PMID:20301677|PMID:2063869|PMID:2071149|PMID:20920871|PMID:20937381|PMID:2114701|PMID:21147011|PMID:21154324|PMID:21228398|PMID:21307867|PMID:21445337|PMID:21462123|PMID:21527427|PMID:2173030|PMID:21811977|PMID:21820508|PMID:21871829|PMID:21890392|PMID:21953985|PMID:22106832|PMID:22112818|PMID:2230084|PMID:22330942|PMID:22333022|PMID:22355511|PMID:22388642|PMID:22513348|PMID:22526846|PMID:22698810|PMID:22763404|PMID:22841515|PMID:22975760|PMID:23062575|PMID:23074961|PMID:2309142|PMID:23220018|PMID:23225039|PMID:23271928|PMID:23352163|PMID:23357515|PMID:23430547|PMID:23430918|PMID:23500595|PMID:23514811|PMID:23559577|PMID:23690520|PMID:23716935|PMID:23764561|PMID:23792259|PMID:23842451|PMID:23856132|PMID:23932990|PMID:23942198|PMID:24033266|PMID:24048906|PMID:24078561|PMID:24130151|PMID:24190797|PMID:24296287|PMID:24301756|PMID:24304607|PMID:24327145|PMID:24350308|PMID:24368688|PMID:24401910|PMID:24510552|PMID:24661517|PMID:24705691|PMID:24765287|PMID:24789341|PMID:24882081|PMID:24939588|PMID:24941924|PMID:25003100|PMID:25007885|PMID:25085675|PMID:25087612|PMID:25155776|PMID:25323746|PMID:25359260|PMID:25449068|PMID:25456745|PMID:25525159|PMID:25550961|PMID:25551302|PMID:25596310|PMID:25640679|PMID:2564729|PMID:2574002|PMID:2574153|PMID:25741868|PMID:2575001|PMID:25750018|PMID:25757997|PMID:25863075|PMID:25882749|PMID:2589491|PMID:25894915|PMID:25920592|PMID:2615649|PMID:26206375|PMID:26210745|PMID:26322415|PMID:26351554|PMID:26413448|PMID:26467025|PMID:26481238|PMID:26503515|PMID:26542770|PMID:26589311|PMID:26600521|PMID:26655635|PMID:26666653|PMID:26701937|PMID:26803807|PMID:26990548|PMID:27121329|PMID:27175306|PMID:27243974|PMID:27264808|PMID:27413125|PMID:27469133|PMID:27620137|PMID:27682710|PMID:27760515|PMID:28174686|PMID:28182360|PMID:28400091|PMID:2840952
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9281	phenylketonuria		ISO	RGD:735410	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Folling disease | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, NON-PKU | ClinVar Annotator: match by term: Hyperphenylalaninaemia | ClinVar Annotator: match by term: PHENYLKETONURIA | ClinVar Annotator: match by term: Phenylketonuria | ClinVar Annotator: match by term: Phenylketonurias | ClinVar Annotator: match by term: phenylketonuria	PMID:28492532|PMID:28593914|PMID:28653649|PMID:28676969|PMID:28754886|PMID:28771436|PMID:28851938|PMID:28915855|PMID:28982351|PMID:29032371|PMID:29102225|PMID:29144512|PMID:29176022|PMID:29288420|PMID:29316886|PMID:29317692|PMID:29390883|PMID:29413232|PMID:29473999|PMID:29499199|PMID:29653233|PMID:29654578|PMID:29731766|PMID:29749107|PMID:29997390|PMID:30037505|PMID:30050108|PMID:3008810|PMID:30159852|PMID:30275481|PMID:30311390|PMID:30337205|PMID:30389586|PMID:30459323|PMID:30487145|PMID:30612563|PMID:30626930|PMID:30648773|PMID:30667134|PMID:30668579|PMID:30674554|PMID:30692599|PMID:30706953|PMID:30747360|PMID:30829006|PMID:30838026|PMID:30887117|PMID:30904546|PMID:30963030|PMID:31102715|PMID:31130284|PMID:31178897|PMID:31208052|PMID:31332730|PMID:31355225|PMID:31413878|PMID:31445982|PMID:31589614|PMID:31623983|PMID:31640267|PMID:31737040|PMID:31980526|PMID:31998365|PMID:32039316|PMID:32069237|PMID:32668217|PMID:32720330|PMID:32778825|PMID:32801363|PMID:32893076|PMID:32905092|PMID:32962492|PMID:33101986|PMID:33116287|PMID:33177615|PMID:33234470|PMID:33375644|PMID:33465300|PMID:33564846|PMID:33625639|PMID:33677757|PMID:33803550|PMID:33868932|PMID:33980295|PMID:34039861|PMID:34233069|PMID:34353949|PMID:34426522|PMID:34747549|PMID:34828281|PMID:34836270|PMID:35079019|PMID:35085585|PMID:35095998|PMID:35176108|PMID:35193651|PMID:35281663|PMID:35328070|PMID:35339094|PMID:35405047|PMID:35664874|PMID:35690318|PMID:35869558|PMID:35952926|PMID:36046396|PMID:36104584|PMID:3615198|PMID:3624660|PMID:36246604|PMID:36380532|PMID:36537053|PMID:36574877|PMID:36577126|PMID:36646061|PMID:36755623|PMID:36787440|PMID:36845377|PMID:36849017|PMID:37004080|PMID:37189584|PMID:37204857|PMID:37237386|PMID:37237429|PMID:37257178|PMID:37421234|PMID:37701331|PMID:38068509|PMID:38105685|PMID:38481932|PMID:38532509|PMID:38582244|PMID:38706300|PMID:38731816|PMID:38863445|PMID:38905920|PMID:39033325|PMID:3903932|PMID:39039323|PMID:39256839|PMID:39940237|PMID:40630137|PMID:7556322|PMID:7707686|PMID:7726156|PMID:7766951|PMID:7766957|PMID:7833954|PMID:7844887|PMID:7844888|PMID:7860062|PMID:7866411|PMID:7913581|PMID:7915167|PMID:7981714|PMID:8019568|PMID:8051931|PMID:8068076|PMID:8069318|PMID:8088845|PMID:8095248|PMID:8097423|PMID:8098245|PMID:8116675|PMID:8222245|PMID:8268925|PMID:8304187|PMID:8320703|PMID:8406445|PMID:8487271|PMID:8533759|PMID:8535444|PMID:8535445|PMID:8556304|PMID:8632937|PMID:8659548|PMID:8682503|PMID:8739972|PMID:8807319|PMID:8807331|PMID:8829656|PMID:8830172|PMID:8831077|PMID:8860005|PMID:8889583|PMID:8889590|PMID:8981952|PMID:8990021|PMID:9012412|PMID:9048935|PMID:9169088|PMID:9284280|PMID:9298832|PMID:9359039|PMID:9391881|PMID:9399840|PMID:9399896|PMID:9427161|PMID:9429153|PMID:9450897|PMID:9452061|PMID:9452062|PMID:9521426|PMID:9536098|PMID:9540801|PMID:9575658|PMID:9600453|PMID:9634518|PMID:9781015|PMID:9825986|PMID:9843368|PMID:9860305|PMID:9949232
12136798	PAH	phenylalanine hydroxylase	gene	DOID:9970	obesity		ISO	RGD:735410	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10479481|PMID:11486900|PMID:11524738|PMID:12409276|PMID:12640344|PMID:12644360|PMID:12655550|PMID:12655553|PMID:15171997|PMID:16198137|PMID:16290003|PMID:17096675|PMID:17935162|PMID:18294361|PMID:18299955|PMID:19062537|PMID:21820508|PMID:21953985|PMID:22330942|PMID:22513348|PMID:22526846|PMID:23430547|PMID:23500595|PMID:23559577|PMID:23764561|PMID:23792259|PMID:24350308|PMID:25087612|PMID:25596310|PMID:25741868|PMID:2575001|PMID:25750018|PMID:26467025|PMID:26481238|PMID:27121329|PMID:28492532|PMID:30037505|PMID:30487145|PMID:30667134|PMID:30747360|PMID:31589614|PMID:31980526|PMID:32668217|PMID:32778825|PMID:32801363|PMID:33101986|PMID:33465300|PMID:34828281|PMID:35405047|PMID:36380532|PMID:36537053|PMID:37421234|PMID:38532509|PMID:38731816|PMID:8268925|PMID:8739972|PMID:8830172|PMID:8889590|PMID:9429153|PMID:9634518
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0060058	lymphoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:7240710	20180130	OMIM			
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110306	autosomal dominant limb-girdle muscular dystrophy type 3		ISO	RGD:1320569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant limb-girdle muscular dystrophy type 1G | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1G	PMID:17576681|PMID:24647604|PMID:25741868|PMID:28492532|PMID:30604053|PMID:31267206|PMID:32528171|PMID:33131168|PMID:36575883|PMID:9536098
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:10534	stomach cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1115	sarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1324	lung cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:1909	melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:3275	thymoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:4362	cervical cancer		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:6039	uveal melanoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:870	neuropathy		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:24647604|PMID:25741868|PMID:28492532|PMID:31267206
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136815	HNRNPDL	heterogeneous nuclear ribonucleoprotein D like	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1320569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050908	myelodysplastic syndrome	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:18774170|REF_RGD_ID:11075096
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060060	non-Hodgkin lymphoma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:15159311|REF_RGD_ID:11531140
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0060668	anencephaly	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:point mutation:intron:c.-26+755C>A (rs326119) (human)	PMID:26045171|REF_RGD_ID:11098877
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:12375236|REF_RGD_ID:1302512
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:12590188|REF_RGD_ID:5508199
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0081337	congenital myopathy		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CblE complementation type homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE | ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE TYPE | ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE	PMID:10484769|PMID:12555939|PMID:12971424|PMID:15714522|PMID:16199547|PMID:17576681|PMID:20120036|PMID:22887477|PMID:24033266|PMID:25227144|PMID:25526710|PMID:25741868|PMID:25978498|PMID:28492532|PMID:28518168|PMID:30041674|PMID:30466947|PMID:31063268|PMID:32461654|PMID:33980297|PMID:38736634|PMID:9536098
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:0112255	homocystinuria-megaloblastic anemia cblE type	susceptibility	ISO	RGD:1318580	D	RGD:7240710	20260805	OMIM			
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1115	sarcoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:114	heart disease		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD			PMID:15612980|REF_RGD_ID:1581051
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:12336	male infertility		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16861746
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1049A>G (human)	PMID:21070756|REF_RGD_ID:5508183
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1681	heart septal defect		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs326119(human)	PMID:22179537|REF_RGD_ID:7244247
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G (human)	PMID:18843018|REF_RGD_ID:2317118
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNPs:intron, exon:rs162049, p.H595Y (rs10380) (human)	PMID:18515090|REF_RGD_ID:2325772
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:1909	melanoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3565	meningioma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :66A>G, (rs1801394) (human)	PMID:18483342|REF_RGD_ID:5508186
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4362	cervical cancer		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5041	esophageal cancer		ISO	RGD:1318580	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:630	genetic disease		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1318580	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Disorders of Intracellular Cobalamin Metabolism	PMID:15292234|PMID:15494741|PMID:25227144|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:657	adenoma		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17389618
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :66A>G(human)	PMID:19035314|REF_RGD_ID:14696707
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20230831	RGD		DNA:SNP: (rs326118) (human)	PMID:18635682|REF_RGD_ID:329853746
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:8577	ulcerative colitis	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G (human)	PMID:21947961|REF_RGD_ID:5508217
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:863	nervous system disease		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects		ISO	RGD:1318580	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neural tube defects, folate-sensitive	PMID:15714522|PMID:25526710|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654|PMID:33042249
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9001989	Folate-Sensitive Neural Tube Defects	susceptibility	ISO	RGD:1318580	D	RGD:7240710	20260805	OMIM			
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		Associated with Diabetes Mellitus, Type 1;DNA:SNP:cds:66A>G, (rs1801394) (human)	PMID:18774994|REF_RGD_ID:6893652
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006281	Temporomandibular Joint Disorders	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:p.I22M (rs1801394)(human)	PMID:21615938|REF_RGD_ID:5490535
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16985020|PMID:17389618
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66A>G(human)	PMID:18774170|REF_RGD_ID:11075096
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318580	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:25227144|PMID:25741868|PMID:28492532
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12555939|PMID:15714522
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9263	homocystinuria		ISO	RGD:1318580	D	RGD:9068941	20260521	RGD		DNA:polymorphisms,mutations: :	PMID:15714522|REF_RGD_ID:5508189
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16575899|PMID:17369066
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :66G>A(human)	PMID:17655928|REF_RGD_ID:11075095
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1318580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17136115
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3776455(human)	PMID:23940529|REF_RGD_ID:11531135
12136836	MTRR	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:1318580	D	RGD:9068941	20200609	RGD		DNA:haplotype:cds:	PMID:17136115|REF_RGD_ID:11531133
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:1344170	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10	PMID:25741868
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0060355	amyotrophic lateral sclerosis type 22		ISO	RGD:1344170	D	RGD:7240710	20180130	OMIM			
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0060355	amyotrophic lateral sclerosis type 22		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 | ClinVar Annotator: match by term: TUBA4A-related condition	PMID:25741868|PMID:26465396|PMID:26675813|PMID:28492532
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0061257	congenital myopathy 26		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0061257	congenital myopathy 26		ISO	RGD:1344170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 26 | ClinVar Annotator: match by term: Congenital myopathy 26	PMID:25741868|PMID:38413182|PMID:40666348
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:0080855	Parkinsonism		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder	PMID:25741868
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:1324	lung cancer		ISO	RGD:1344170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis	PMID:25741868
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1344170	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:630	genetic disease		ISO	RGD:1344170	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:9009348	Oocyte/Zygote/Embryo Maturation Arrest 23		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:9009348	Oocyte/Zygote/Embryo Maturation Arrest 23		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 23	
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:9009349	Spastic ataxia 11, autosomal dominant		ISO	RGD:1344170	D	RGD:7240710	20250625	OMIM			
12136864	TUBA4A	tubulin alpha 4a	gene	DOID:9009349	Spastic ataxia 11, autosomal dominant		ISO	RGD:1344170	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC ATAXIA 11, AUTOSOMAL DOMINANT	
12136875	NAA38	N-alpha-acetyltransferase 38, NatC auxiliary subunit	gene	DOID:630	genetic disease		ISO	RGD:126911632|RGD:155970485|RGD:156098303|RGD:156169756|RGD:156198061|RGD:401747534|RGD:405660809|RGD:405660815|RGD:405660886	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1115	sarcoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1324	lung cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:1909	melanoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:3275	thymoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320797	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1320797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12136881	WWP2	WW domain containing E3 ubiquitin protein ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136920	ASL	argininosuccinate lyase	gene	DOID:0050758	metabolic acidosis		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: metabolic acidosis	PMID:25741868
12136920	ASL	argininosuccinate lyase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:0110679	congenital myasthenic syndrome 4C		ISO	RGD:731559	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C	PMID:25741868|PMID:34008892
12136920	ASL	argininosuccinate lyase	gene	DOID:10534	stomach cancer		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136920	ASL	argininosuccinate lyase	gene	DOID:1115	sarcoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:12215	oligohydramnios		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:12849	autistic disorder		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:1324	lung cancer		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12136920	ASL	argininosuccinate lyase	gene	DOID:13580	cholestasis		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:14755	argininosuccinic aciduria		ISO	RGD:731559	D	RGD:7240710	20180130	OMIM			
12136920	ASL	argininosuccinate lyase	gene	DOID:14755	argininosuccinic aciduria		ISO	RGD:731559	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Argininosuccinate lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic Aciduria | ClinVar Annotator: match by term: Argininosuccinic acid lyase deficiency | ClinVar Annotator: match by term: Argininosuccinic aciduria	PMID:10896281|PMID:11698398|PMID:11747432|PMID:11747433|PMID:12384776|PMID:12408190|PMID:15164414|PMID:15273245|PMID:16199547|PMID:16435180|PMID:16941645|PMID:1705937|PMID:17326097|PMID:17551924|PMID:17576681|PMID:18042262|PMID:18616627|PMID:19703900|PMID:20236848|PMID:20298553|PMID:21290785|PMID:21667091|PMID:21710918|PMID:21744316|PMID:22081021|PMID:22231378|PMID:22541557|PMID:2263616|PMID:23430928|PMID:24033266|PMID:24136197|PMID:24166829|PMID:24516753|PMID:24927999|PMID:25433810|PMID:25525159|PMID:25741868|PMID:25778938|PMID:26589311|PMID:26661037|PMID:26745957|PMID:26843370|PMID:27515243|PMID:27604308|PMID:28251416|PMID:28492532|PMID:28600779|PMID:29326055|PMID:29493581|PMID:29773863|PMID:30285816|PMID:30838026|PMID:30904546|PMID:31030429|PMID:31056765|PMID:31130284|PMID:31156699|PMID:31183366|PMID:31426867|PMID:31515792|PMID:31709144|PMID:31737040|PMID:31792768|PMID:31943503|PMID:31990680|PMID:32410394|PMID:32447331|PMID:32778825|PMID:33190319|PMID:33373331|PMID:33514801|PMID:33611823|PMID:33851512|PMID:34014557|PMID:34374989|PMID:34405919|PMID:355872|PMID:36787440|PMID:36807131|PMID:36964972|PMID:37865865|PMID:38044746|PMID:38422816|PMID:38535124|PMID:38535129|PMID:38579669|PMID:38582244|PMID:38592052|PMID:38772378|PMID:39309541|PMID:39342494|PMID:39776112|PMID:705937|PMID:9045711|PMID:9256435|PMID:9536098
12136920	ASL	argininosuccinate lyase	gene	DOID:1826	epilepsy		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:11747432|PMID:12384776|PMID:17551924|PMID:18042262|PMID:18616627|PMID:20236848|PMID:21667091|PMID:22231378|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:32447331|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:3275	thymoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:4362	cervical cancer		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136920	ASL	argininosuccinate lyase	gene	DOID:5041	esophageal cancer		ISO	RGD:731559	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12136920	ASL	argininosuccinate lyase	gene	DOID:5082	liver cirrhosis		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cirrhosis of liver	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:630	genetic disease		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12136920	ASL	argininosuccinate lyase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:731559	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
12136920	ASL	argininosuccinate lyase	gene	DOID:9002669	Hypoxia		ISO	RGD:619974	D	RGD:9068941	20200609	RGD		protein:increased activity:brain (rat)	PMID:20567615|REF_RGD_ID:4110824
12136920	ASL	argininosuccinate lyase	gene	DOID:9002916	Hyperphagia		ISO	RGD:619974	D	RGD:9068941	20251218	RGD		protein:decreased enzyme activity:liver	PMID:4062872|REF_RGD_ID:2300098
12136920	ASL	argininosuccinate lyase	gene	DOID:9004009	Reperfusion Injury	resistance	ISO	RGD:619974	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, neuron (rat)	PMID:17198704|REF_RGD_ID:1599263
12136920	ASL	argininosuccinate lyase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12136920	ASL	argininosuccinate lyase	gene	DOID:9004898	Jaundice		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:11747432|PMID:17551924|PMID:18042262|PMID:20236848|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:9005930	Endotoxemia		ISO	RGD:619974	D	RGD:9068941	20200609	RGD			PMID:10652239|REF_RGD_ID:1599265
12136920	ASL	argininosuccinate lyase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136920	ASL	argininosuccinate lyase	gene	DOID:9007480	Hyperoxia		ISO	RGD:619974	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:20805789|REF_RGD_ID:4142785
12136920	ASL	argininosuccinate lyase	gene	DOID:9007874	Liver Failure		ISO	RGD:619974	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
12136920	ASL	argininosuccinate lyase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731559	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:12384776|PMID:18616627|PMID:21667091|PMID:22231378|PMID:24166829|PMID:25741868|PMID:25778938|PMID:28492532|PMID:31943503|PMID:32447331
12136920	ASL	argininosuccinate lyase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731559	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:11747432|PMID:12384776|PMID:17551924|PMID:18042262|PMID:18616627|PMID:20236848|PMID:21667091|PMID:22231378|PMID:24166829|PMID:25741868|PMID:25778938|PMID:26661037|PMID:28251416|PMID:28492532|PMID:29493581|PMID:31056765|PMID:31943503|PMID:32447331|PMID:33373331|PMID:34405919|PMID:38535129
12136920	ASL	argininosuccinate lyase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136920	ASL	argininosuccinate lyase	gene	DOID:9008972	Hyperammonemia		ISO	RGD:731559	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:17326097|PMID:19703900|PMID:24166829|PMID:25741868|PMID:26843370|PMID:28492532
12136920	ASL	argininosuccinate lyase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:731559	D	RGD:9068941	20200609	RGD		Argininosuccinic Aciduria; DNA:mutations:multiple (human)	PMID:2263616|REF_RGD_ID:734610
12136920	ASL	argininosuccinate lyase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:731559	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocyte	PMID:16121806|REF_RGD_ID:2314010
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:0060058	lymphoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136942	ZMAT1	zinc finger matrin-type 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345896	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:0080718	GNE myopathy		ISO	RGD:732554	D	RGD:7240710	20180130	OMIM			
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:0080718	GNE myopathy		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GNE myopathy | ClinVar Annotator: match by term: Inclusion body myopathy autosomal recessive | ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing | ClinVar Annotator: match by term: NONAKA MYOPATHY | ClinVar Annotator: match by term: Nonaka myopathy	PMID:10330343|PMID:11528398|PMID:12409274|PMID:12473753|PMID:12473769|PMID:12473780|PMID:12497639|PMID:12743242|PMID:12913203|PMID:14678807|PMID:14707127|PMID:14733962|PMID:14733963|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15330759|PMID:15670773|PMID:15676110|PMID:15833430|PMID:15834044|PMID:15987957|PMID:16112887|PMID:16199547|PMID:16372135|PMID:16503651|PMID:16810679|PMID:17098358|PMID:17576681|PMID:17698786|PMID:17704511|PMID:17706199|PMID:18383535|PMID:18555875|PMID:19596068|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20300792|PMID:20644153|PMID:21294420|PMID:21307865|PMID:21708040|PMID:21868336|PMID:21873062|PMID:21910480|PMID:22194990|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:22507750|PMID:22855677|PMID:22883483|PMID:23127962|PMID:23278550|PMID:23437777|PMID:23549799|PMID:23558691|PMID:23842869|PMID:24005727|PMID:24027297|PMID:2402797|PMID:24136589|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24737350|PMID:24796702|PMID:25046369|PMID:25061177|PMID:25123033|PMID:25182749|PMID:25303967|PMID:25617006|PMID:25640679|PMID:25741868|PMID:25966635|PMID:25978849|PMID:25986339|PMID:26053703|PMID:26161358|PMID:26231298|PMID:26467025|PMID:26627873|PMID:26980148|PMID:27363342|PMID:27829678|PMID:27858732|PMID:27966821|PMID:28099567|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28615891|PMID:28641925|PMID:28895049|PMID:29305133|PMID:29307446|PMID:29406958|PMID:29480215|PMID:29603301|PMID:29720219|PMID:30112071|PMID:30160005|PMID:30171045|PMID:30390020|PMID:30467490|PMID:30564623|PMID:30842975|PMID:31167812|PMID:31286697|PMID:32053088|PMID:32400752|PMID:32419263|PMID:32505938|PMID:32860282|PMID:33031330|PMID:33197058|PMID:33198675|PMID:33214394|PMID:33250842|PMID:34676965|PMID:35138478|PMID:35202935|PMID:35398442|PMID:35438352|PMID:35503500|PMID:35590323|PMID:35723113|PMID:35777599|PMID:35933247|PMID:36360228|PMID:36829089|PMID:37188302|PMID:37365282|PMID:37647632|PMID:38237079|PMID:38544359|PMID:38674419|PMID:38691167|PMID:38852763|PMID:39102614|PMID:39213088|PMID:39332896|PMID:39519852|PMID:39539755|PMID:41315541|PMID:5182749|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:0081363	distal myopathy with rimmed vacuoles		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH OR WITHOUT RIMMED VACUOLES	PMID:24027297|PMID:25617006|PMID:25741868|PMID:26467025|PMID:28492532
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:11720	distal myopathy		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY | ClinVar Annotator: match by term: distal muscle weakness	PMID:11528398|PMID:12497639|PMID:12743242|PMID:14972325|PMID:16503651|PMID:16810679|PMID:17698786|PMID:18555875|PMID:20059379|PMID:20175955|PMID:20301439|PMID:21294420|PMID:21708040|PMID:22196754|PMID:23437777|PMID:23806237|PMID:23842869|PMID:24005727|PMID:24695763|PMID:24707269|PMID:2479670|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:34825065|PMID:35138478|PMID:35398442
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:1588	thrombocytopenia		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:31064749
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:17	musculoskeletal system disease		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:12497639|PMID:16503651|PMID:20300792|PMID:21307865|PMID:22196754|PMID:22231866|PMID:22343627|PMID:24027297|PMID:24695763|PMID:24796702|PMID:25741868|PMID:26231298|PMID:26627873|PMID:27858732|PMID:28492532|PMID:28615891|PMID:29480215|PMID:29720219|PMID:30842975|PMID:32419263|PMID:33250842|PMID:35398442
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3070	high grade glioma		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3275	thymoma		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3429	inclusion body myositis		ISO	RGD:732554	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inclusion body myositis	PMID:25741868
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:7240710	20180130	OMIM			
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23549799|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25002140|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:22507750|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:18555875|PMID:19917666|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:24005727|PMID:24027297|PMID:24033266|PMID:2443758|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28492532|PMID:28641925|PMID:28717665|PMID:29480215|PMID:30842975|PMID:30990900|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12325084|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:16810679|PMID:17576681|PMID:17704511|PMID:18383535|PMID:18555875|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:23842869|PMID:24005727|PMID:24027297|PMID:24033266|PMID:24136589|PMID:2443758|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25303967|PMID:25590979|PMID:25617006|PMID:25741868|PMID:25986339|PMID:26161358|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29307446|PMID:29382405|PMID:29480215|PMID:30338442|PMID:30390020|PMID:30467490|PMID:30842975|PMID:30990900|PMID:33031330|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16810679|PMID:17576681|PMID:17704511|PMID:18383535|PMID:18555875|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23496965|PMID:23806237|PMID:23842869|PMID:24005727|PMID:24027297|PMID:24136589|PMID:2443758|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25303967|PMID:25590979|PMID:25617006|PMID:25741868|PMID:25986339|PMID:26161358|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29307446|PMID:29480215|PMID:30390020|PMID:30842975|PMID:30990900|PMID:33031330|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16810679|PMID:17167404|PMID:17576681|PMID:17704511|PMID:18383535|PMID:18555875|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23806237|PMID:23842869|PMID:24005727|PMID:24027297|PMID:24136589|PMID:2443758|PMID:24474513|PMID:24695763|PMID:24707269|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25303967|PMID:25590979|PMID:25617006|PMID:25741868|PMID:25986339|PMID:26161358|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29307446|PMID:29480215|PMID:30390020|PMID:30842975|PMID:30990900|PMID:33031330|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria | ClinVar Annotator: match by term: Sialuria, Finnish type	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:14972325|PMID:15136692|PMID:15146476|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16810679|PMID:17576681|PMID:17704511|PMID:18383535|PMID:18555875|PMID:19917666|PMID:20030229|PMID:20059379|PMID:20175955|PMID:20300792|PMID:20301343|PMID:20301439|PMID:21294420|PMID:21436238|PMID:21708040|PMID:21873062|PMID:22196754|PMID:22322304|PMID:23278550|PMID:23437777|PMID:23806237|PMID:23842869|PMID:24005727|PMID:24027297|PMID:24136589|PMID:2443758|PMID:24474513|PMID:24695763|PMID:24707269|PMID:2479670|PMID:24796702|PMID:25123033|PMID:25182749|PMID:25303967|PMID:25590979|PMID:25617006|PMID:25741868|PMID:25986339|PMID:26161358|PMID:26467025|PMID:27457812|PMID:27535533|PMID:27829678|PMID:27858732|PMID:27919547|PMID:2808337|PMID:28320138|PMID:28403181|PMID:28492532|PMID:28641925|PMID:28717665|PMID:28895049|PMID:29307446|PMID:29480215|PMID:30390020|PMID:30842975|PMID:30990900|PMID:33031330|PMID:33250842|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIALURIA | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:14707127|PMID:16503651|PMID:17576681|PMID:17706199|PMID:18555875|PMID:19917666|PMID:20301343|PMID:21436238|PMID:22196754|PMID:24027297|PMID:2443758|PMID:24695763|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27966821|PMID:2808337|PMID:28492532|PMID:32053088|PMID:8439453|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SIALURIA | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:14707127|PMID:16503651|PMID:17576681|PMID:17706199|PMID:18555875|PMID:19917666|PMID:20301343|PMID:21436238|PMID:22196754|PMID:24027297|PMID:24695763|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26467025|PMID:27966821|PMID:28492532|PMID:32053088|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:3659	sialuria		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SIALURIA | ClinVar Annotator: match by term: Salla disease | ClinVar Annotator: match by term: Sialic Acid Storage Disease | ClinVar Annotator: match by term: Sialuria	PMID:10330343|PMID:10356312|PMID:11326336|PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:17576681|PMID:17706199|PMID:18555875|PMID:19917666|PMID:20300792|PMID:20301343|PMID:21307865|PMID:21436238|PMID:21873062|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:23278550|PMID:24027297|PMID:24136589|PMID:24695763|PMID:24796702|PMID:25590979|PMID:25617006|PMID:25741868|PMID:26231298|PMID:26467025|PMID:26627873|PMID:27829678|PMID:27858732|PMID:27966821|PMID:28492532|PMID:28615891|PMID:29480215|PMID:29720219|PMID:30842975|PMID:32053088|PMID:32419263|PMID:33250842|PMID:35398442|PMID:9536098
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:630	genetic disease		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9001727	French Type Sialuria		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sialuria, French type	PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:14707127|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:18555875|PMID:19917666|PMID:20300792|PMID:21307865|PMID:21873062|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:23278550|PMID:24027297|PMID:24136589|PMID:24695763|PMID:24796702|PMID:25617006|PMID:25741868|PMID:26231298|PMID:26467025|PMID:26627873|PMID:27829678|PMID:27858732|PMID:28492532|PMID:28615891|PMID:29480215|PMID:29720219|PMID:30842975|PMID:32419263|PMID:33250842|PMID:35398442
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9002720	Splenomegaly		ISO	RGD:732554	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: splenomegaly	PMID:25741868
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9005679	Thrombocytopenia 12		ISO	RGD:732554	D	RGD:7240710	20240424	OMIM			
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9005679	Thrombocytopenia 12		ISO	RGD:732554	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia 12 with or without myopathy	PMID:11528398|PMID:12473753|PMID:12473780|PMID:12497639|PMID:12743242|PMID:15136692|PMID:15147877|PMID:15670773|PMID:15987957|PMID:16503651|PMID:20300792|PMID:20346669|PMID:21307865|PMID:21873062|PMID:22196754|PMID:22231866|PMID:22322304|PMID:22343627|PMID:23278550|PMID:24027297|PMID:24136589|PMID:24695763|PMID:24796702|PMID:25741868|PMID:26231298|PMID:26627873|PMID:27829678|PMID:27858732|PMID:28492532|PMID:28615891|PMID:29480215|PMID:29720219|PMID:30842975|PMID:32419263|PMID:33250842|PMID:35398442
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12136978	GNE	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050117	disease by infectious agent		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:15580558|PMID:15718250|PMID:22701567|PMID:25741868|PMID:26448950|PMID:28492532|PMID:32935446
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young	PMID:10559219|PMID:12524280|PMID:14692646|PMID:15115830|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15886397|PMID:16123337|PMID:16166157|PMID:16357843|PMID:16403845|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:17652641|PMID:18414213|PMID:18556340|PMID:18767144|PMID:20301620|PMID:20642364|PMID:21119644|PMID:21544516|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:22831748|PMID:23275527|PMID:23320570|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25201519|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:30377186|PMID:30663027|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33538814|PMID:34566892|PMID:35114785|PMID:35612844|PMID:36208030|PMID:36227502|PMID:37664823|PMID:39190464
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0050951	hereditary ataxia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060334	transient neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Transient neonatal diabetes mellitus	PMID:12524280|PMID:15115830|PMID:15580558|PMID:15583126|PMID:16123337|PMID:16731837|PMID:18414213|PMID:19139106|PMID:20301620|PMID:22768671|PMID:25555642|PMID:25741868|PMID:26958039|PMID:27681997|PMID:28492532|PMID:32027066|PMID:32893419|PMID:34566892
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	PMID:10049691|PMID:10559219|PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12213829|PMID:12364426|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14551916|PMID:14692646|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15292329|PMID:15448106|PMID:15448107|PMID:15504982|PMID:15531505|PMID:15561897|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16205880|PMID:16268330|PMID:16357843|PMID:16403845|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16636122|PMID:16670688|PMID:16731833|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17021801|PMID:17065345|PMID:17114887|PMID:17257281|PMID:17296510|PMID:17316607|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17728498|PMID:17823772|PMID:17901525|PMID:17919178|PMID:17956278|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18556340|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19065048|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19372376|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20642364|PMID:20685672|PMID:20686794|PMID:21056492|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21352428|PMID:21422196|PMID:21544516|PMID:21682153|PMID:21812132|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22471336|PMID:22512215|PMID:22591706|PMID:22648966|PMID:22701567|PMID:22704848|PMID:22749773|PMID:22768671|PMID:22815030|PMID:22831748|PMID:22958899|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23320570|PMID:23345197|PMID:23652837|PMID:23950723|PMID:24018988|PMID:24068186|PMID:24150202|PMID:24401662|PMID:24421282|PMID:24622368|PMID:24686051|PMID:24698822|PMID:25201519|PMID:25247988|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25741868|PMID:25871929|PMID:25972930|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26590798|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27173951|PMID:27181376|PMID:27681997|PMID:27691052|PMID:27908292|PMID:28083968|PMID:28123437|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29361385|PMID:29893194|PMID:30286572|PMID:30377186|PMID:30663027|PMID:31218401|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32041611|PMID:32279225|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33324081|PMID:33409956|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33816067|PMID:33853507|PMID:33987715|PMID:34566892|PMID:36208030|PMID:36873092|PMID:9831713|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0060639	permanent neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Permanent Neonatal Diabetes Mellitus | ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11585851|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14715863|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15531505|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15838686|PMID:15855351|PMID:15886397|PMID:15998776|PMID:16123337|PMID:16357843|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885550|PMID:16982483|PMID:17021801|PMID:17065345|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17652641|PMID:17673911|PMID:17823772|PMID:17901525|PMID:17956278|PMID:18073297|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18436707|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19139106|PMID:19214942|PMID:19233137|PMID:19254908|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20686794|PMID:21056492|PMID:21115269|PMID:21119644|PMID:21340152|PMID:21422196|PMID:21544516|PMID:21812132|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22648966|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22815030|PMID:23226037|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23652837|PMID:23798684|PMID:24150202|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24622368|PMID:24686051|PMID:25201519|PMID:25308342|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:26388896|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27118464|PMID:27681997|PMID:27908292|PMID:28083968|PMID:28270372|PMID:28442472|PMID:28480665|PMID:28492532|PMID:29893194|PMID:30286572|PMID:31218401|PMID:31291970|PMID:32027066|PMID:32041611|PMID:32279225|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33987715|PMID:34055426|PMID:34304300|PMID:34465386|PMID:34566892|PMID:34789499|PMID:36208343|PMID:36873092|PMID:39519275|PMID:8923010|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0061172	transient neonatal diabetes mellitus 3		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0061172	transient neonatal diabetes mellitus 3		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, TRANSIENT NEONATAL, 3 | ClinVar Annotator: match by term: Diabetes mellitus, transient neonatal, 3	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15115830|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15784703|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16123337|PMID:16357843|PMID:16455067|PMID:16731837|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22619292|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22768671|PMID:22831748|PMID:23275527|PMID:23462667|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27118464|PMID:27681997|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28350539|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28925365|PMID:29893194|PMID:30377186|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33538814|PMID:33852230|PMID:34566892|PMID:35114785|PMID:35402560|PMID:35612844|PMID:37664823|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0070218	familial hyperinsulinemic hypoglycemia 2		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0070218	familial hyperinsulinemic hypoglycemia 2		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2 | ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 2	PMID:10204114|PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:14699091|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18596924|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20032456|PMID:20301620|PMID:20424228|PMID:20694718|PMID:20980454|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:23345197|PMID:23700433|PMID:24018988|PMID:24383515|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28492532|PMID:28938416|PMID:29216354|PMID:29893194|PMID:30377186|PMID:30873120|PMID:31291970|PMID:32027066|PMID:32202736|PMID:32935446|PMID:35402560|PMID:36208030|PMID:9356020|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0080855	Parkinsonism		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prefrontal cortex, striatum, hippocampus (rat)	PMID:15857625|REF_RGD_ID:1598645
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0110757	type 1 diabetes mellitus 20		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 20	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17257281|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:18250167|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32935446|PMID:33046911|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 1 | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11395395|PMID:11872696|PMID:12475776|PMID:12524280|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15580558|PMID:15718250|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16357843|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17673911|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18767144|PMID:19357197|PMID:20049716|PMID:20301620|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:22005014|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22619292|PMID:22701567|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:23798684|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26590798|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16166157|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18559200|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23275527|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28350539|PMID:28492532|PMID:28766502|PMID:29454299|PMID:29893194|PMID:30377186|PMID:30386300|PMID:31195986|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33852230|PMID:33853507|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16166157|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18559200|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28350539|PMID:28492532|PMID:28766502|PMID:29454299|PMID:29893194|PMID:30377186|PMID:30386300|PMID:31195986|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33852230|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111102	maturity-onset diabetes of the young type 3		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111110	maturity-onset diabetes of the young type 13		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:0111110	maturity-onset diabetes of the young type 13		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MODY, TYPE 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 13 | ClinVar Annotator: match by term: Maturity-onset diabetes of the young, type 13	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17490422|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21054355|PMID:21210267|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:2270156|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:23667671|PMID:24018988|PMID:24401662|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:27033559|PMID:27908292|PMID:28123437|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:29893194|PMID:30026763|PMID:30297969|PMID:30377186|PMID:31291970|PMID:31464105|PMID:32027066|PMID:32101525|PMID:32893419|PMID:32935446|PMID:33538814|PMID:34737607|PMID:35114785|PMID:35402560|PMID:35612844|PMID:37664823|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:10763	hypertension		ISO	RGD:69247	D	RGD:9068941	20200609	RGD			PMID:15964031|REF_RGD_ID:1598644
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11446	sciatic neuropathy		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion	PMID:17108688|REF_RGD_ID:7297043
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15562009|PMID:15580558|PMID:15718250|PMID:16357843|PMID:22701567|PMID:25741868|PMID:26448950|PMID:32935446
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11716	prediabetes syndrome		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		associated with Obesity;protein:decreased expression:hypothalamus	PMID:18001323|REF_RGD_ID:2311538
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11717	neonatal diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neonatal Diabetes Mellitus | ClinVar Annotator: match by term: Neonatal diabetes mellitus	PMID:10338089|PMID:12524280|PMID:15115830|PMID:15504982|PMID:15580558|PMID:15583126|PMID:15718250|PMID:16123337|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17446535|PMID:17490422|PMID:18414213|PMID:20301620|PMID:22471336|PMID:2270156|PMID:22701567|PMID:22768671|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28492532|PMID:28587604|PMID:28925365|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32893419|PMID:33538814|PMID:34566892|PMID:35114785|PMID:35612844|PMID:37664823|PMID:41874548|PMID:8897013
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:11832	visual epilepsy		ISO	RGD:69098	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18021373
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:13317	hyperinsulinemic hypoglycemia		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPERINSULINEMIC HYPOGLYCEMIA, PERSISTENT	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:31291970|PMID:32935446|PMID:35402560|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1824	status epilepticus		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:22050960|REF_RGD_ID:5686281
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1826	epilepsy		ISO	RGD:69247	D	RGD:9068941	20241107	RGD			PMID:18021373|REF_RGD_ID:2301911
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:1837	diabetic ketoacidosis		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetic ketoacidosis	PMID:17021801|PMID:17327377|PMID:18414213|PMID:18559200|PMID:22619292|PMID:23462667|PMID:25741868|PMID:26839896|PMID:28350539|PMID:28492532|PMID:28766502|PMID:32418263|PMID:32792356|PMID:33852230|PMID:34566892
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:2018	hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism | ClinVar Annotator: match by term: Hyperinsulinism, Dominant/Recessive	PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14871556|PMID:15111507|PMID:15115830|PMID:15448106|PMID:15504982|PMID:15531505|PMID:15579791|PMID:15580558|PMID:15583126|PMID:15718250|PMID:15797964|PMID:15838686|PMID:15855351|PMID:16123337|PMID:16205880|PMID:16416420|PMID:16455067|PMID:16609879|PMID:16670688|PMID:16731837|PMID:16885549|PMID:16885550|PMID:17065345|PMID:17257281|PMID:17316607|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17466004|PMID:17475937|PMID:17490422|PMID:17491708|PMID:17635943|PMID:17823772|PMID:17901525|PMID:18414213|PMID:18596924|PMID:18662362|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20022885|PMID:20032456|PMID:20049716|PMID:20220270|PMID:20301620|PMID:20424228|PMID:20466780|PMID:20589481|PMID:20685672|PMID:20980454|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22471336|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22768671|PMID:23700433|PMID:24068186|PMID:24383515|PMID:24434300|PMID:24622368|PMID:24698822|PMID:25308342|PMID:25639667|PMID:25741868|PMID:25871929|PMID:26448950|PMID:26467025|PMID:26740944|PMID:26839896|PMID:26958039|PMID:27173951|PMID:27181376|PMID:27681997|PMID:28480665|PMID:28492532|PMID:28938416|PMID:29893194|PMID:32027066|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33987715|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:2018	hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemia | ClinVar Annotator: match by term: Hyperinsulinism	PMID:25741868|PMID:27173951|PMID:27181376|PMID:28492532|PMID:32027066|PMID:33046911
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:69098	D	RGD:8554872	20260310	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:3310	atopic dermatitis		ISO	RGD:69098	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atopic eczema	
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:539	ophthalmoplegia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ophthalmoparesis	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:630	genetic disease		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15580558|PMID:15718250|PMID:22701567|PMID:25741868|PMID:26448950|PMID:28492532|PMID:32935446
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:767	muscular atrophy		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9000343	Vision Disorders		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9000495	Tremor		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Resting tremor	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9002261	Permanent Neonatal Diabetes Mellitus 1		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Permanent neonatal diabetes mellitus 1	PMID:10559219|PMID:15562009|PMID:15580558|PMID:15718250|PMID:15886397|PMID:16357843|PMID:18414213|PMID:21119644|PMID:21544516|PMID:22701567|PMID:22831748|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28492532|PMID:30377186|PMID:32027066|PMID:32935446
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:69099	D	RGD:9068941	20200609	RGD			PMID:18802029|REF_RGD_ID:7297042
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9004866	Ataxia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005532	Muscle Weakness		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23785408|REF_RGD_ID:7296920
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:69098	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:17635943|PMID:18073297|PMID:20301620|PMID:21340152|PMID:27223594|PMID:28492532|PMID:30286572
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:69247	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:21250976|REF_RGD_ID:7297045
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006240	Permanent Neonatal Diabetes Mellitus 2		ISO	RGD:69098	D	RGD:7240710	20241002	OMIM			
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006240	Permanent Neonatal Diabetes Mellitus 2		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DIABETES MELLITUS, PERMANENT NEONATAL, 2 | ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal 2	PMID:10559219|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:16123337|PMID:16357843|PMID:16416420|PMID:16670688|PMID:16731837|PMID:17021801|PMID:17327377|PMID:17491708|PMID:17652641|PMID:17728498|PMID:18073297|PMID:18414213|PMID:18559200|PMID:19139106|PMID:20022885|PMID:20301620|PMID:21340152|PMID:22619292|PMID:22701567|PMID:22768671|PMID:22831748|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26839896|PMID:26958039|PMID:27681997|PMID:27908292|PMID:28123437|PMID:28350539|PMID:28492532|PMID:28766502|PMID:28842488|PMID:30286572|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33046911|PMID:33852230|PMID:34566892|PMID:8923010
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9006828	Congenital Hyperinsulinism		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hyperinsulinism | ClinVar Annotator: match by term: Familial hyperinsulinism | ClinVar Annotator: match by term: HYPERINSULINISM, NEONATAL	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14551916|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:15886397|PMID:16357843|PMID:16455067|PMID:17257281|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18250167|PMID:18290324|PMID:18414213|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:20685672|PMID:21119644|PMID:21544516|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:24018988|PMID:24401662|PMID:25201519|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:27908292|PMID:28123437|PMID:28492532|PMID:29893194|PMID:30026763|PMID:31291970|PMID:31464105|PMID:32935446|PMID:35402560|PMID:36227502|PMID:39190464|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:69247	D	RGD:9068941	20200609	RGD			PMID:26591689|REF_RGD_ID:12790977
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007447	Developmental Delay, Epilepsy, and Neonatal Diabetes		ISO	RGD:69098	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: DEND syndrome	PMID:15580558|PMID:15718250|PMID:25741868|PMID:26448950
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007661	Dwarfism		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17021801|PMID:17327377|PMID:18414213|PMID:18559200|PMID:22619292|PMID:23462667|PMID:25741868|PMID:26839896|PMID:28350539|PMID:28492532|PMID:28766502|PMID:32418263|PMID:32792356|PMID:33852230|PMID:34566892
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69098	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9032110
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69099	D	RGD:9068941	20200609	RGD			PMID:17906066|REF_RGD_ID:7297046
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:913	atrophic muscular disease		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:25741868
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9351	diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes | ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:10049691|PMID:12213829|PMID:12524280|PMID:14715863|PMID:15115830|PMID:15448107|PMID:15561897|PMID:15562009|PMID:15580558|PMID:15583126|PMID:15718250|PMID:16019717|PMID:16075046|PMID:16123337|PMID:16249427|PMID:16268330|PMID:16357843|PMID:16416420|PMID:16609879|PMID:16636122|PMID:16731833|PMID:16731837|PMID:16885550|PMID:17021801|PMID:17296510|PMID:17327377|PMID:17349054|PMID:17446535|PMID:17490422|PMID:17635943|PMID:17673911|PMID:17919178|PMID:18250167|PMID:18414213|PMID:18436707|PMID:18559200|PMID:18662362|PMID:18767144|PMID:20301620|PMID:20685672|PMID:21115269|PMID:21352428|PMID:21544516|PMID:21682153|PMID:22471336|PMID:22619292|PMID:2270156|PMID:22701567|PMID:22749773|PMID:22768671|PMID:23275527|PMID:23345197|PMID:23462667|PMID:23667671|PMID:2462236|PMID:24622368|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26509005|PMID:26839896|PMID:26958039|PMID:27033559|PMID:27681997|PMID:28347637|PMID:28350539|PMID:28492532|PMID:28587604|PMID:28766502|PMID:28787272|PMID:28925365|PMID:31291970|PMID:32027066|PMID:32101525|PMID:32418263|PMID:32792356|PMID:32893419|PMID:32935446|PMID:33409956|PMID:33538814|PMID:33852230|PMID:34566892|PMID:35114785|PMID:35612844|PMID:37664823|PMID:9831713
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25741914|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28492532|PMID:28766502|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:21765448|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11395395|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12524280|PMID:12540637|PMID:12540638|PMID:1422196|PMID:14715863|PMID:14871556|PMID:15111507|PMID:15448107|PMID:15562009|PMID:15579781|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15807877|PMID:15855351|PMID:15998776|PMID:16166157|PMID:16332676|PMID:16357843|PMID:16455067|PMID:16670688|PMID:17021801|PMID:17114887|PMID:17257281|PMID:17327377|PMID:17446535|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17673911|PMID:17823772|PMID:17956278|PMID:18250167|PMID:18414213|PMID:18559200|PMID:18758683|PMID:18767144|PMID:19214942|PMID:19233137|PMID:19357197|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20049716|PMID:20301620|PMID:20424228|PMID:20589481|PMID:20685672|PMID:20686794|PMID:20980454|PMID:21115269|PMID:21573802|PMID:22005014|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22289434|PMID:22311976|PMID:22512215|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:22958899|PMID:23226049|PMID:23275527|PMID:23345197|PMID:23462667|PMID:24383515|PMID:24401662|PMID:24421282|PMID:24434300|PMID:24686051|PMID:25201519|PMID:25555642|PMID:25637631|PMID:25639667|PMID:25741868|PMID:25972930|PMID:26448950|PMID:26467025|PMID:26545876|PMID:26590798|PMID:26839896|PMID:27118464|PMID:27181376|PMID:27188453|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28270372|PMID:28350539|PMID:28352326|PMID:28442472|PMID:28492532|PMID:28766502|PMID:28938416|PMID:29216354|PMID:29361385|PMID:29454299|PMID:29893194|PMID:30377186|PMID:31195986|PMID:31218401|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33046911|PMID:33502061|PMID:33611546|PMID:33762279|PMID:33852230|PMID:33853507|PMID:34465386|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:10559219|PMID:11318841|PMID:11692183|PMID:11872696|PMID:12196481|PMID:12475776|PMID:12540637|PMID:12540638|PMID:15111507|PMID:15562009|PMID:15579791|PMID:15580558|PMID:15718250|PMID:15797964|PMID:15855351|PMID:16166157|PMID:16357843|PMID:16455067|PMID:17021801|PMID:17257281|PMID:17327377|PMID:17463246|PMID:17463248|PMID:17463249|PMID:17823772|PMID:18414213|PMID:18559200|PMID:18758683|PMID:19214942|PMID:19233137|PMID:19491206|PMID:19498446|PMID:19578796|PMID:19587354|PMID:19685080|PMID:20301620|PMID:20424228|PMID:21573802|PMID:22082043|PMID:22163043|PMID:22209866|PMID:22264780|PMID:22591706|PMID:22619292|PMID:22701567|PMID:22704848|PMID:22831748|PMID:23275527|PMID:23462667|PMID:24018988|PMID:24401662|PMID:25555642|PMID:25741868|PMID:26448950|PMID:26467025|PMID:26839896|PMID:27118464|PMID:27908292|PMID:28123437|PMID:28173619|PMID:28262438|PMID:28350539|PMID:28492532|PMID:28766502|PMID:29454299|PMID:29893194|PMID:30377186|PMID:30386300|PMID:31195986|PMID:31291970|PMID:32027066|PMID:32418263|PMID:32792356|PMID:32935446|PMID:33852230|PMID:34566892|PMID:35402560|PMID:36208030|PMID:9867219
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9452	steatotic liver disease		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:15562009|PMID:15580558|PMID:15718250|PMID:16357843|PMID:22701567|PMID:25741868|PMID:26448950|PMID:32935446
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:69098	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1 | ClinVar Annotator: match by term: neonatal insulin-dependent diabetes mellitus	PMID:15448107|PMID:17446535|PMID:18414213|PMID:20301620|PMID:25741868|PMID:28492532|PMID:29361385|PMID:32792356
12137000	KCNJ11	potassium inwardly rectifying channel subfamily J member 11	gene	DOID:9993	hypoglycemia		ISO	RGD:69098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:27908292|PMID:31464105
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:10283	prostate cancer		ISO	RGD:1312654	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:10283	prostate cancer		ISO	RGD:1312654	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:1115	sarcoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:1324	lung cancer		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:4362	cervical cancer		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137006	RUBCNL	rubicon like autophagy enhancer	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137032	SPEF1	sperm flagellar 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137032	SPEF1	sperm flagellar 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137032	SPEF1	sperm flagellar 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1317786	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7903146 (human)	PMID:24961829|REF_RGD_ID:13506825
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs7094463, rs10749127, rs11196224 (human)	PMID:25678841|REF_RGD_ID:13506821
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317786	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: TCF7L2-related Intellectual disability	PMID:25741868
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:1115	sarcoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:11714	gestational diabetes	susceptibility	ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:18984664|REF_RGD_ID:2312455
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1317786	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:34003604
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1317786	D	RGD:9068941	20220526	RGD		DNA:SNP: :rs7003146(human)	PMID:24338422|REF_RGD_ID:152599188
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:299	adenocarcinoma		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:3275	thymoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317786	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:630	genetic disease		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:34003604
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP (human)	PMID:19506043|REF_RGD_ID:6906926
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1317786	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:33607128
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21383188
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21383188
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9003816	Macrocephaly		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317786	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		DNA:SNP (human)	PMID:19509102|REF_RGD_ID:2312433
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1317786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21892161|PMID:24836286
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1317786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:1317786	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:SNP (human)	PMID:19585101|REF_RGD_ID:2312417
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1317786	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: TCF7L2-related condition | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II Diabetes Mellitus	PMID:25741868|PMID:28492532|PMID:35101336
12137050	TCF7L2	transcription factor 7 like 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1317786	D	RGD:7240710	20230505	OMIM			
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1316582	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic acinar cell:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1348038	D	RGD:9068941	20200609	RGD		protein:increased expression:exocrine pancreas:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1348038	D	RGD:9068941	20200609	RGD			PMID:14732230|REF_RGD_ID:1580058
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29429387
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:2913	acute pancreatitis		ISO	RGD:1316582	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic acinar cell:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3068	glioblastoma		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19823589
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3070	high grade glioma		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23383216
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3347	osteosarcoma		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21311599
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1316582	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1348038	D	RGD:9068941	20200609	RGD		protein:increased expression:exocrine pancreas:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1348038	D	RGD:9068941	20210416	RGD			PMID:21165554|REF_RGD_ID:126781701
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1348038	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1348038	D	RGD:9068941	20200609	RGD			PMID:26919246|REF_RGD_ID:14928318
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9000918	Disease Progression		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9001865	Myeloid Leukemia, Accelerated Phase		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24571310
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:1348038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23383216
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1316582	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic acinar cell:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9004078	Pancreatic Intraepithelial Neoplasia		ISO	RGD:1348038	D	RGD:9068941	20200609	RGD		protein:increased expression:exocrine pancreas:	PMID:19585519|REF_RGD_ID:9491843
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1316582	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
12137068	BMI1	BMI1 proto-oncogene, polycomb ring finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348038	D	RGD:9068941	20200609	RGD			PMID:16105758|REF_RGD_ID:1580059
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0051054	coarctation of the aorta		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coarctation of aorta	PMID:25741868|PMID:25944381
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737237	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0060249	scoliosis		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0060260	ptosis		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0060500	drug allergy		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Drug allergy	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0070037	autosomal dominant intellectual developmental disorder 7		ISO	RGD:737237	D	RGD:7240710	20180130	OMIM			
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0070037	autosomal dominant intellectual developmental disorder 7		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYRK1A-related condition | ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 7 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal dominant 7 | ClinVar Annotator: match by term: Intellectual disability syndrome due to a DYRK1A point mutation	PMID:16199547|PMID:17237124|PMID:17576681|PMID:18414213|PMID:21204217|PMID:21294719|PMID:23099646|PMID:23160955|PMID:23512985|PMID:24033266|PMID:24088041|PMID:25167861|PMID:25533962|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26467025|PMID:26633542|PMID:26633545|PMID:27824329|PMID:28053047|PMID:28167836|PMID:28191890|PMID:28492532|PMID:28496994|PMID:29034068|PMID:29700199|PMID:30831192|PMID:31130284|PMID:31785789|PMID:31803247|PMID:32555303|PMID:32581362|PMID:32959227|PMID:33004838|PMID:33057194|PMID:33562844|PMID:33624935|PMID:33753861|PMID:34008892|PMID:34253714|PMID:34345024|PMID:35598272|PMID:36368308|PMID:37506195|PMID:38030819|PMID:38177409|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0070183	spermatogenic failure 5		ISO	RGD:737237	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with spermatogenesis disorder	PMID:25741868
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:24088041|PMID:25741868|PMID:25944381|PMID:26633545
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10376	amblyopia		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10534	stomach cancer		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28492532|PMID:29034068|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32581362|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26922654|PMID:28053047|PMID:28492532|PMID:29034068|PMID:31164858|PMID:31594070|PMID:32371413|PMID:32581362|PMID:34345024|PMID:34374989|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities | ClinVar Annotator: match by term: intellectual disability	PMID:17576681|PMID:18414213|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25326635|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26922654|PMID:28053047|PMID:28492532|PMID:29034068|PMID:31164858|PMID:31594070|PMID:32371413|PMID:32581362|PMID:34345024|PMID:34374989|PMID:39825153|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disabilities | ClinVar Annotator: match by term: intellectual disability	PMID:17576681|PMID:18414213|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25641759|PMID:25707398|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26922654|PMID:28053047|PMID:28492532|PMID:29034068|PMID:31164858|PMID:31594070|PMID:32371413|PMID:32581362|PMID:34345024|PMID:34374989|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1059	intellectual disability		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities | ClinVar Annotator: match by term: intellectual disability	PMID:18414213|PMID:23099646|PMID:24088041|PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:26922654|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:31594070|PMID:32581362|PMID:34345024
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10604	lactose intolerance		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10629	microphthalmia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10754	otitis media		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10892	hypospadias		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:10907	microcephaly		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:18414213|PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868|PMID:25944381
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:11383	cryptorchidism		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1143	exotropia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:11782	astigmatism		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:11830	myopia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1205	allergic disease		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:12849	autistic disorder		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, 17 | ClinVar Annotator: match by term: Autistic behavior	PMID:17576681|PMID:25707398|PMID:25741868|PMID:25944381|PMID:28492532|PMID:32371413|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:12849	autistic disorder		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1287	cardiovascular system disease		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:25944381|PMID:26795593|PMID:28191889|PMID:28492532|PMID:33004838|PMID:35285131|PMID:35437318
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:12930	dilated cardiomyopathy	severity	ISO	RGD:2528	D	RGD:9068941	20240118	RGD		rat cDNA in mouse model	PMID:27056896|REF_RGD_ID:401959209
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:13250	diarrhea		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diarrhea	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:14250	Down syndrome		ISO	RGD:10495	D	RGD:9068941	20240425	MouseDO		OMIM:190685	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:14250	Down syndrome		ISO	RGD:737237	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:18696092|REF_RGD_ID:14974029
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:14250	Down syndrome		ISO	RGD:737237	D	RGD:9068941	20240104	RGD		protein:increased expression:brain (human)	PMID:18658135|REF_RGD_ID:401940180
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:14250	Down syndrome	treatment	ISO	RGD:10495	D	RGD:9068941	20200609	RGD			PMID:23220201|PMID:28647555|REF_RGD_ID:14973377|REF_RGD_ID:14974030
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1591	renovascular hypertension	treatment	ISO	RGD:2528	D	RGD:9068941	20240118	RGD			PMID:26619200|REF_RGD_ID:401940196
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1757	facial hemiatrophy		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Facial hemiatrophy	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1793	pancreatic cancer		ISO	RGD:737237	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31838052
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1826	epilepsy		ISO	RGD:737237	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:25326635|PMID:25741868|PMID:25920557|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1826	epilepsy		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:24088041|PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1827	generalized epilepsy		ISO	RGD:737237	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25167861|PMID:25326635|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28492532|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1827	generalized epilepsy		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1882	atrial heart septal defect		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:1891	optic nerve disease		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:2030	anxiety disorder		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:25944381
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:3044	food allergy		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Food allergy	PMID:25741868|PMID:25944381|PMID:28492532|PMID:32860008
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:3275	thymoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:4448	macular degeneration		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:4481	allergic rhinitis		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25533962|PMID:25741868|PMID:25944381|PMID:28053047|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:535	sleep disorder		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:17576681|PMID:25741868|PMID:26922654|PMID:27241786|PMID:28492532|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:540	strabismus		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:552	pneumonia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pneumonia	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:2528	D	RGD:9068941	20231221	RGD		associated with heart failure; protein:increased expression, increased activity:heart left ventricle (rat)	PMID:26067684|REF_RGD_ID:11097969
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2528	D	RGD:9068941	20231221	RGD		associated with myocardial infarction	PMID:26067684|REF_RGD_ID:11097969
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:630	genetic disease		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23099646|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:28053047|PMID:28492532|PMID:29034068|PMID:35032046
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:630	genetic disease		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21294719|PMID:22495309|PMID:23099646|PMID:25167861|PMID:25641759|PMID:25730262|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26467025|PMID:28053047|PMID:28191890|PMID:28492532|PMID:29034068|PMID:32581362|PMID:35032046
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:6364	migraine		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:8488	polyhydramnios		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9001239	Delayed Puberty		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9001510	Funnel Chest		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9001581	Constipation		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9002134	Heart Murmurs		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9003132	Sialorrhea		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9003133	Hypertelorism		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9003507	Premature Birth		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2528	D	RGD:9068941	20240118	RGD		protein:decreased expression:heart (rat)	PMID:19906449|REF_RGD_ID:401959215
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:2528	D	RGD:9068941	20240118	RGD			PMID:24524606|PMID:26619200|REF_RGD_ID:401940196|REF_RGD_ID:401959210
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868|PMID:25944381
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9004866	Ataxia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia | ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:25944381
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9005077	Joint Instability		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737237	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:17576681|PMID:25707398|PMID:25741868|PMID:25944381|PMID:28492532|PMID:32371413|PMID:32860008|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9005616	Micrognathism		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25707398|PMID:25741868|PMID:25944381|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28492532|PMID:29034068
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:737237	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:25741868
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007402	Gliosis		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:25741868
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007661	Dwarfism		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24088041|PMID:25167861|PMID:25641759|PMID:25741868|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28191890|PMID:28492532|PMID:32581362
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007892	Tics		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9007956	Febrile Seizures	susceptibility	ISO	RGD:10495	D	RGD:9068941	20200609	RGD			PMID:29223763|REF_RGD_ID:27095962
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:17576681|PMID:24088041|PMID:25326635|PMID:25707398|PMID:25741868|PMID:25741883|PMID:25944381|PMID:26633545|PMID:28492532|PMID:32371413|PMID:34345024|PMID:9536098
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:24088041|PMID:25167861|PMID:25641759|PMID:25741868|PMID:25741883|PMID:25920557|PMID:25944381|PMID:26633545|PMID:28053047|PMID:28191890|PMID:28492532|PMID:32581362|PMID:34345024
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737237	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9009021	Plagiocephaly		ISO	RGD:737237	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:25920557|PMID:25944381|PMID:28053047|PMID:28191890|PMID:28492532
12137088	DYRK1A	dual specificity tyrosine phosphorylation regulated kinase 1A	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:2528	D	RGD:9068941	20240118	RGD		protein:decreased expression:heart (rat)	PMID:19906449|REF_RGD_ID:401959215
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080562	congenital disorder of glycosylation Ij		ISO	RGD:1349923	D	RGD:7240710	20180130	OMIM			
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080562	congenital disorder of glycosylation Ij		ISO	RGD:1349923	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CDG Ij | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1J	PMID:18414213|PMID:22742743|PMID:23430862|PMID:24759841|PMID:25741868|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31153949
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0080690	RASopathy		ISO	RGD:1349923	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:22742743|PMID:28492532
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1349923	D	RGD:7240710	20180130	OMIM			
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:0110676	congenital myasthenic syndrome 13		ISO	RGD:1349923	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 13 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 13 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 13, with tubular aggregates | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, with tubular aggregates 2	PMID:12872255|PMID:16199547|PMID:17576681|PMID:18414213|PMID:22742743|PMID:22786653|PMID:23249953|PMID:23430862|PMID:23591138|PMID:24759841|PMID:25500013|PMID:25741868|PMID:28454995|PMID:28492532|PMID:28662078|PMID:28712839|PMID:30117111|PMID:30388443|PMID:31127727|PMID:31153949|PMID:37721175|PMID:38443029|PMID:9536098
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1115	sarcoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1143	exotropia		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:11782	astigmatism		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1349923	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation | ClinVar Annotator: match by term: congenital disorder of glycosylation	PMID:12872255|PMID:22742743|PMID:23806237|PMID:25741868|PMID:28492532|PMID:30117111|PMID:31589614|PMID:33743358
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:535	sleep disorder		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1349923	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:38124360
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9004595	Diastema		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diastema	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349923	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9834	hyperopia		ISO	RGD:1349923	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:22742743|PMID:28492532|PMID:30117111
12137104	DPAGT1	dolichyl-phosphate N-acetylglucosaminephosphotransferase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:1349923	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:22742743|PMID:25741868|PMID:28492532|PMID:30388443|PMID:37721175|PMID:38443029
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:1324	lung cancer		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137117	ZMAT2	zinc finger matrin-type 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1312112	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137130	C14H1orf35	chromosome 14 C1orf35 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312112	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:0070390	developmental and epileptic encephalopathy 104		ISO	RGD:1605737	D	RGD:7240710	20220810	OMIM			
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:0070390	developmental and epileptic encephalopathy 104		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 104 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 104 | ClinVar Annotator: match by term: developmental and epileptic encephalopathy 104	PMID:21832060|PMID:25741868|PMID:32001091|PMID:33833240|PMID:34909687
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:10283	prostate cancer		ISO	RGD:1605737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:10283	prostate cancer		ISO	RGD:1605737	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:10485	esophageal atresia		ISO	RGD:1605737	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:10534	stomach cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:1324	lung cancer		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605737	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:6039	uveal melanoma		ISO	RGD:1605737	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:630	genetic disease		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008621	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY		ISO	RGD:1605737	D	RGD:7240710	20221214	OMIM			
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008621	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY		ISO	RGD:1605737	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy and brain atrophy	PMID:25741868|PMID:33833240|PMID:34909687
12137140	ATP6V0A1	ATPase H+ transporting V0 subunit a1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0080141	mosaic variegated aneuploidy syndrome 1		ISO	RGD:1316316	D	RGD:7240710	20180130	OMIM			
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0080141	mosaic variegated aneuploidy syndrome 1		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 1	PMID:15475955|PMID:16199547|PMID:16411201|PMID:17576681|PMID:18548531|PMID:19763152|PMID:20307669|PMID:20516114|PMID:21190457|PMID:21520333|PMID:22406018|PMID:24033266|PMID:25502805|PMID:25640679|PMID:25741868|PMID:27331020|PMID:28492532|PMID:28591191|PMID:28976722|PMID:30512160|PMID:30716324|PMID:31053147|PMID:32884756|PMID:9536098|PMID:9916837
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0080600	COVID-19		ISO	RGD:1316316	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0080641	tongue carcinoma		ISO	RGD:1316316	D	RGD:9068941	20200609	RGD		associated with oral squamous cell carcinoma; protein:increased expression: oral mucosa squamous cell, cervical lymph node (human)	PMID:20204288|REF_RGD_ID:27372889
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:0080688	mosaic variegated aneuploidy syndrome		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome | ClinVar Annotator: match by term: Warburton-Anyane-Yeboa syndrome	PMID:17576681|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:10534	stomach cancer		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:10907	microcephaly		ISO	RGD:1316316	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15475955
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:10908	hydrocephalus		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:1115	sarcoma		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:1520	colon carcinoma		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:1793	pancreatic cancer		ISO	RGD:1316316	D	RGD:9068941	20200609	RGD		protein:altered localization:pancreas	PMID:17242465|REF_RGD_ID:2326105
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:1826	epilepsy		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:1969	cerebral palsy		ISO	RGD:1316316	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:2394	ovarian cancer		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:3121	gallbladder cancer		ISO	RGD:1316316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gallbladder	PMID:18497548|REF_RGD_ID:2324871
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:1316316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15475955
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:3275	thymoma		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18691855
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316316	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:630	genetic disease		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:630	genetic disease		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28591191|PMID:9536098
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:767	muscular atrophy		ISO	RGD:1316317	D	RGD:9068941	20200609	RGD			PMID:23792145|REF_RGD_ID:10059412
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1316316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553959
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9006257	Growth Disorders		ISO	RGD:1316316	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15475955
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9007183	Premature Chromatid Separation Trait		ISO	RGD:1316316	D	RGD:7240710	20180130	OMIM			
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9007183	Premature Chromatid Separation Trait		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature chromatid separation trait | ClinVar Annotator: match by term: TOTAL PREMATURE CHROMATID SEPARATION TRAIT	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28591191
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316316	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9008692	Aneuploidy	susceptibility	ISO	RGD:1316316	D	RGD:9068941	20200609	RGD		DNA:missense mutation: ; mosaic variegated aneuploidy syndrome, OMIM:257300	PMID:15475955|REF_RGD_ID:1600540
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9256	colorectal cancer		ISO	RGD:1316316	D	RGD:7240710	20200226	OMIM			
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9256	colorectal cancer		ISO	RGD:1316316	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:17576681|PMID:20516114|PMID:24728327|PMID:25741868|PMID:28492532|PMID:9536098
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9256	colorectal cancer		ISO	RGD:1316316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15475955|PMID:21190457|PMID:24033266|PMID:24728327|PMID:25741868|PMID:28492532|PMID:28591191
12137188	BUB1B	BUB1 mitotic checkpoint serine/threonine kinase B	gene	DOID:9256	colorectal cancer		ISO	RGD:1316316	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15475955|PMID:21190457|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28591191
12137219	FABP4	fatty acid binding protein 4	gene	DOID:0060058	lymphoma		ISO	RGD:733453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12137219	FABP4	fatty acid binding protein 4	gene	DOID:10591	pre-eclampsia		ISO	RGD:733453	D	RGD:9068941	20230601	RGD		protein:increased expression:blood serum (human)	PMID:19573524|REF_RGD_ID:329845853
12137219	FABP4	fatty acid binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:733453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137219	FABP4	fatty acid binding protein 4	gene	DOID:1875	impotence		ISO	RGD:69309	D	RGD:9068941	20200609	RGD		associated with hypercholesterolemia;mRNA:increased expression:penis erectile tissue	PMID:17137605|REF_RGD_ID:1625408
12137219	FABP4	fatty acid binding protein 4	gene	DOID:2773	contact dermatitis		ISO	RGD:733453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12137219	FABP4	fatty acid binding protein 4	gene	DOID:305	carcinoma		ISO	RGD:733453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12137219	FABP4	fatty acid binding protein 4	gene	DOID:557	kidney disease		ISO	RGD:733453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30215792
12137219	FABP4	fatty acid binding protein 4	gene	DOID:767	muscular atrophy		ISO	RGD:69309	D	RGD:9068941	20220224	RGD		associated with microgravity; mRNA:increased expression:gastrocnemius (rat)	PMID:14638460|REF_RGD_ID:151361116
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:733454	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:733453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69309	D	RGD:9068941	20200609	RGD		protein:decreased expresssion:fat cell	PMID:9059981|REF_RGD_ID:1625411
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:733453	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16919044|REF_RGD_ID:1625406
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69309	D	RGD:9068941	20200609	RGD			PMID:17391165|REF_RGD_ID:1625407
12137219	FABP4	fatty acid binding protein 4	gene	DOID:9970	obesity		ISO	RGD:733454	D	RGD:9068941	20200609	RGD			PMID:8910278|REF_RGD_ID:737747
12137227	ERI2	ERI1 exoribonuclease family member 2	gene	DOID:0080600	COVID-19		ISO	RGD:1605306	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12137227	ERI2	ERI1 exoribonuclease family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137227	ERI2	ERI1 exoribonuclease family member 2	gene	DOID:3275	thymoma		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137227	ERI2	ERI1 exoribonuclease family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137227	ERI2	ERI1 exoribonuclease family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137241	SLC10A6	solute carrier family 10 member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137241	SLC10A6	solute carrier family 10 member 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30186172
12137241	SLC10A6	solute carrier family 10 member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:2355	anemia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:3650	lactic acidosis		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:4195	hyperglycemia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:630	genetic disease		ISO	RGD:1347153	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9002957	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO		ISO	RGD:1347153	D	RGD:7240710	20180130	OMIM			
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9002957	CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO		ISO	RGD:1347153	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CA5A-related condition | ClinVar Annotator: match by term: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO | ClinVar Annotator: match by term: Carbonic anhydrase VA deficiency, hyperammonemia due to	PMID:24530203|PMID:25741868|PMID:28492532
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9005253	Hypernatremia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypernatremia	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9006253	Ketosis		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ketosis	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9008811	Tachypnea		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9008972	Hyperammonemia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:41113665
12137251	CA5A	carbonic anhydrase 5A	gene	DOID:9993	hypoglycemia		ISO	RGD:1347153	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868|PMID:41113665
12137262	TMEM65	transmembrane protein 65	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137262	TMEM65	transmembrane protein 65	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137262	TMEM65	transmembrane protein 65	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137262	TMEM65	transmembrane protein 65	gene	DOID:1909	melanoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137262	TMEM65	transmembrane protein 65	gene	DOID:4362	cervical cancer		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137262	TMEM65	transmembrane protein 65	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137262	TMEM65	transmembrane protein 65	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137262	TMEM65	transmembrane protein 65	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603356	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12137262	TMEM65	transmembrane protein 65	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:10534	stomach cancer		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:9003808	Progressive Myoclonus Epilepsy 12		ISO	RGD:1602091	D	RGD:7240710	20210303	OMIM			
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:9003808	Progressive Myoclonus Epilepsy 12		ISO	RGD:1602091	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, 12	PMID:25741868
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137289	SLC7A6OS	solute carrier family 7 member 6 opposite strand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:10283	prostate cancer		ISO	RGD:1350363	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137298	ARHGAP20	Rho GTPase activating protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350363	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:10283	prostate cancer		ISO	RGD:734370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:10283	prostate cancer		ISO	RGD:734370	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:1909	melanoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:3275	thymoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:5041	esophageal cancer		ISO	RGD:734370	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137326	USF2	upstream transcription factor 2, c-fos interacting	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:0080600	COVID-19	disease_progression	ISO	RGD:730992	D	RGD:9068941	20200618	RGD		associated with diabetes mellitus	PMID:32345579|REF_RGD_ID:30296681
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730992	D	RGD:9068941	20200618	RGD			PMID:32198776|PMID:32220650|REF_RGD_ID:30296673|REF_RGD_ID:30296674
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:0080600	COVID-19	severity	ISO	RGD:730992	D	RGD:9068941	20200625	RGD		protein:increased expression:serum (human)	PMID:32365221|REF_RGD_ID:30310229
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:0080998	acute necrotizing pancreatitis	resistance	ISO	RGD:2254	D	RGD:9068941	20200609	RGD			PMID:19684430|REF_RGD_ID:5684345
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:1059	intellectual disability		ISO	RGD:730992	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:11357950
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:10763	hypertension		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1849535|PMID:9887042
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:11400	pyelonephritis		ISO	RGD:730992	D	RGD:9068941	20200609	RGD			PMID:15286264|REF_RGD_ID:7205498
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:11446	sciatic neuropathy		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19852068
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:11716	prediabetes syndrome		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		protein:increased expression:penis erectile tissue	PMID:19152794|REF_RGD_ID:2314033
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:12678	hypercalcemia		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1115441|PMID:12637657
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:12783	migraine without aura		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11304026|PMID:14659530
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:12849	autistic disorder		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11357950
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:14250	Down syndrome		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16289943
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:326	ischemia		ISO	RGD:2254	D	RGD:9068941	20200609	RGD			PMID:21181115|REF_RGD_ID:5684019
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10274	D	RGD:9068941	20200609	RGD			PMID:21964254|REF_RGD_ID:5684010
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:2254	D	RGD:9068941	20230610	RGD			PMID:30531687|REF_RGD_ID:329849008
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17365031
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:6364	migraine		ISO	RGD:730992	D	RGD:9068941	20200609	RGD			PMID:20959432|REF_RGD_ID:5684020
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:6364	migraine		ISO	RGD:730992	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:12574409|PMID:17635592|PMID:35115687
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:6364	migraine	no_association	ISO	RGD:730992	D	RGD:9068941	20200609	RGD			PMID:21195698|REF_RGD_ID:5684017
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:6364	migraine	treatment	ISO	RGD:2254	D	RGD:9068941	20240502	RGD			PMID:32522232|REF_RGD_ID:405650618
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1357980
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:76	stomach disease		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		Cerebrovascular dysfunction (stroke) associated gastrointestinal injury model	PMID:19900492|REF_RGD_ID:5684343
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:820	myocarditis		ISO	RGD:10274	D	RGD:9068941	20200609	RGD			PMID:15583078|REF_RGD_ID:7204487
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:8398	osteoarthritis		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16690336
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9000070	Progressive Renal Failure with Hypertension		ISO	RGD:10274	D	RGD:9068941	20200609	RGD			PMID:15928032|REF_RGD_ID:7204486
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9000197	Edema		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7508328
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15127121|PMID:16777450
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17961222
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18430544
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		associated with inflammation;protein:increased expression:dorsal root ganglion:	PMID:21958434|REF_RGD_ID:8657122
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12787826|PMID:12855330|PMID:15265675|PMID:27093858
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16222118
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002362	Hyperkinesis		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:6293644|PMID:6686863
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16690336
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	no_association	ISO	RGD:10274	D	RGD:9068941	20200609	RGD			PMID:19563774|REF_RGD_ID:5684360
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9003805	Catalepsy		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6293644|PMID:6303368|PMID:6686863
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9003870	Herpes Simplex Encephalitis	treatment	ISO	RGD:2254	D	RGD:9068941	20200609	RGD			PMID:22761571|REF_RGD_ID:7240516
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9005372	Inflammation		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		protein:increased expression:hindpaw:	PMID:21958434|REF_RGD_ID:8657122
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9005372	Inflammation		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11588175
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		protein:decreased expression:dorsal root ganglion, neuron	PMID:17151309|REF_RGD_ID:2314035
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		protein:increased expression:penis erectile tissue, seminal vesicle	PMID:19152794|REF_RGD_ID:2314033
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9006205	Animal Disease Models		ISO	RGD:730992	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:2254	D	RGD:9068941	20200609	RGD			PMID:19194162|REF_RGD_ID:7204479
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9007073	Cough	treatment	ISO	RGD:10274	D	RGD:9068941	20260507	RGD		associated with Mycoplasma pneumoniae pneumonia	PMID:40206065|REF_RGD_ID:645233565
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10274	D	RGD:9068941	20200609	RGD			PMID:19816194|REF_RGD_ID:2314032
12137338	CRSP-3	calcitonin receptor-stimulating peptide 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2254	D	RGD:9068941	20200609	RGD		protein:decreased expression:dorsal root ganglion, neuron	PMID:17151309|REF_RGD_ID:2314035
12137348	TMEM244	transmembrane protein 244	gene	DOID:1115	sarcoma		ISO	RGD:1606936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137348	TMEM244	transmembrane protein 244	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12137381	DTWD1	DTW domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137381	DTWD1	DTW domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137381	DTWD1	DTW domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604324	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137381	DTWD1	DTW domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137381	DTWD1	DTW domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604324	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:1909	melanoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:3275	thymoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137398	SPIRE2	spire type actin nucleation factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:1324	lung cancer		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:1909	melanoma		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:4362	cervical cancer		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:630	genetic disease		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9001294	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES		ISO	RGD:736504	D	RGD:7240710	20221214	OMIM			
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9001294	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES		ISO	RGD:736504	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities	PMID:25741868|PMID:31079900
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16757948|PMID:9421497
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12137465	HNRNPR	heterogeneous nuclear ribonucleoprotein R	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1346259	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Russell-Silver syndrome	PMID:25741868
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:3275	thymoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1346259	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137490	FLYWCH1	FLYWCH-type zinc finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137515	MED11	mediator complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137515	MED11	mediator complex subunit 11	gene	DOID:9009077	NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1606637	D	RGD:7240710	20230621	OMIM			
12137515	MED11	mediator complex subunit 11	gene	DOID:9009077	NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES		ISO	RGD:1606637	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities	PMID:25741868
12137515	MED11	mediator complex subunit 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606637	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:0060058	lymphoma		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:10534	stomach cancer		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:1115	sarcoma		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:1324	lung cancer		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:1909	melanoma		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:4362	cervical cancer		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137528	LOC100688321	tumor necrosis factor receptor superfamily member 26-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060058	lymphoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060539	Hermansky-Pudlak syndrome 1		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:7240710	20180130	OMIM			
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:1321051	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HERMANSKY-PUDLAK SYNDROME 2 | ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2 | ClinVar Annotator: match by term: Platelet defects and oculocutaneous albinism	PMID:11809908|PMID:14566336|PMID:16199547|PMID:16507770|PMID:16537806|PMID:17576681|PMID:23403622|PMID:24033266|PMID:25741868|PMID:25980904|PMID:27781387|PMID:28132693|PMID:28492532|PMID:31898847|PMID:32935436|PMID:33217554|PMID:33718801|PMID:9536098
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10283	prostate cancer		ISO	RGD:1321051	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1059	intellectual disability		ISO	RGD:1321051	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1227	neutropenia		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD			PMID:12125811|REF_RGD_ID:1578409
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:12450	pancytopenia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1324	lung cancer		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1321051	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532|PMID:32935436
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:1909	melanoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1321051	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:25741868|PMID:28492532|PMID:32935436
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2223	platelet storage pool deficiency		ISO	RGD:1321052	D	RGD:9068941	20220825	MouseDO		OMIM:185050	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:1321051	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31898847
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD		associated with Hermansky-Pudlak Syndrome 2;DNA:snps, missense mutation, nonsense mutations:exons, introns:multiple (human)	PMID:22009278|REF_RGD_ID:11096518
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome	PMID:16507770|PMID:23403622|PMID:25741868|PMID:28492532|PMID:31898847
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1321051	D	RGD:9068941	20200609	RGD			PMID:12125811|REF_RGD_ID:1578409
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5339	cyclic hematopoiesis		IAGP		D	RGD:12801476	20230920	OMIA		Neutropenia, cyclic	PMID:5581910|PMID:5054472|PMID:5054471|PMID:4796766|PMID:351627|PMID:6067150|PMID:4430726|PMID:5529685|PMID:347941|PMID:1893969|PMID:7474871|PMID:8737267|PMID:12897784|PMID:12750178|PMID:15576359|PMID:15059607|PMID:19941936|PMID:18951469|PMID:35904319|PMID:1167851|PMID:438337|PMID:6976196|PMID:22845776|PMID:22285163|PMID:19208418|PMID:17053055|PMID:16610934|PMID:7528575|PMID:7519075|PMID:1379221|PMID:1699776|PMID:2172633|PMID:3181344|PMID:2458781|PMID:2830927|PMID:2979797|PMID:3607647|PMID:3026784|PMID:3491636|PMID:2945680|PMID:3996494|PMID:6096876|PMID:6506453|PMID:6884440|PMID:6853718|PMID:6846503|PMID:6837566|PMID:6759148|PMID:7066210|PMID:6803622|PMID:7059519|PMID:7060078|PMID:7281477|PMID:6972315|PMID:7011123|PMID:7405719|PMID:7350939|PMID:738763|PMID:719169|PMID:738429|PMID:710550|PMID:568046|PMID:686147|PMID:336117|PMID:1013155|PMID:995965|PMID:955040|PMID:1259228|PMID:1251140|PMID:173440|PMID:127610|PMID:47249|PMID:4612548|PMID:4834515|PMID:4591036|PMID:4587264|PMID:4795953|PMID:4703853|PMID:5534257|PMID:5366324|PMID:4170467|PMID:37673175
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:630	genetic disease		ISO	RGD:1321051	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:718	autoimmune hemolytic anemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune hemolytic anemia	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autoimmune thrombocytopenia	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12137585	AP3B1	adaptor related protein complex 3 subunit beta 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137632	TAC1	tachykinin precursor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:619560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137632	TAC1	tachykinin precursor 1	gene	DOID:0060180	colitis		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:18715640|REF_RGD_ID:2304260
12137632	TAC1	tachykinin precursor 1	gene	DOID:0060500	drug allergy		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21233199
12137632	TAC1	tachykinin precursor 1	gene	DOID:0080819	environmentally induced asthma		ISO	RGD:11379	D	RGD:9068941	20260507	RGD		associated with Experimental Allergic Asthma;protein:increased expression:respiratory system fluid/secretion	PMID:28102732|REF_RGD_ID:645233558
12137632	TAC1	tachykinin precursor 1	gene	DOID:10124	corneal disease		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12824234
12137632	TAC1	tachykinin precursor 1	gene	DOID:10914	amnestic disorder		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20600432|PMID:7562510|PMID:9521815
12137632	TAC1	tachykinin precursor 1	gene	DOID:1205	allergic disease		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11160071
12137632	TAC1	tachykinin precursor 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:3807	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung	PMID:10516226|REF_RGD_ID:5147822
12137632	TAC1	tachykinin precursor 1	gene	DOID:12783	migraine without aura		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11304026
12137632	TAC1	tachykinin precursor 1	gene	DOID:1470	major depressive disorder		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15845098
12137632	TAC1	tachykinin precursor 1	gene	DOID:2841	asthma		ISO	RGD:619560	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11031342|REF_RGD_ID:5147836
12137632	TAC1	tachykinin precursor 1	gene	DOID:3312	bipolar disorder		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15845098
12137632	TAC1	tachykinin precursor 1	gene	DOID:4989	pancreatitis		ISO	RGD:11379	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung, pancreas	PMID:16369913|REF_RGD_ID:5147636
12137632	TAC1	tachykinin precursor 1	gene	DOID:5419	schizophrenia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15845098
12137632	TAC1	tachykinin precursor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:12662901|REF_RGD_ID:5147638
12137632	TAC1	tachykinin precursor 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20616304
12137632	TAC1	tachykinin precursor 1	gene	DOID:8986	narcolepsy		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17521418
12137632	TAC1	tachykinin precursor 1	gene	DOID:9000197	Edema		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7508328
12137632	TAC1	tachykinin precursor 1	gene	DOID:9000641	Pain		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:17493276|REF_RGD_ID:2304337
12137632	TAC1	tachykinin precursor 1	gene	DOID:9000641	Pain		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445233|PMID:7694222
12137632	TAC1	tachykinin precursor 1	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16777450
12137632	TAC1	tachykinin precursor 1	gene	DOID:9000784	Fibrosis		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28647476
12137632	TAC1	tachykinin precursor 1	gene	DOID:9001109	Anorexia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30336258
12137632	TAC1	tachykinin precursor 1	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:18326823|REF_RGD_ID:2304321
12137632	TAC1	tachykinin precursor 1	gene	DOID:9001579	Neurogenic Inflammation		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17257769|PMID:17961222|PMID:20138590|PMID:21570423|PMID:9291295
12137632	TAC1	tachykinin precursor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10499367|PMID:12351280|PMID:12787826|PMID:15626726|PMID:16259764|PMID:18234883|PMID:19231294|PMID:8864563|PMID:9714424
12137632	TAC1	tachykinin precursor 1	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:11379	D	RGD:9068941	20260507	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:28102732|REF_RGD_ID:645233558
12137632	TAC1	tachykinin precursor 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9259450
12137632	TAC1	tachykinin precursor 1	gene	DOID:9003132	Sialorrhea		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8938667
12137632	TAC1	tachykinin precursor 1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:11379	D	RGD:9068941	20200609	RGD			PMID:19797759|REF_RGD_ID:5147812
12137632	TAC1	tachykinin precursor 1	gene	DOID:9005236	Drug Eruptions		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1371395
12137632	TAC1	tachykinin precursor 1	gene	DOID:9005372	Inflammation		ISO	RGD:3807	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron	PMID:18053315|REF_RGD_ID:2304327
12137632	TAC1	tachykinin precursor 1	gene	DOID:9005372	Inflammation		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14499429|PMID:21294877|PMID:30116771|PMID:8880065
12137632	TAC1	tachykinin precursor 1	gene	DOID:9005968	Neuralgia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18400411
12137632	TAC1	tachykinin precursor 1	gene	DOID:9006024	Hypotension		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:18337316|REF_RGD_ID:2304320
12137632	TAC1	tachykinin precursor 1	gene	DOID:9006024	Hypotension		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20138590|PMID:2445440
12137632	TAC1	tachykinin precursor 1	gene	DOID:9006202	Pruritus		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19652466
12137632	TAC1	tachykinin precursor 1	gene	DOID:9007001	Bradycardia		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:2471579|REF_RGD_ID:2305984
12137632	TAC1	tachykinin precursor 1	gene	DOID:9007001	Bradycardia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2445440|PMID:8960879
12137632	TAC1	tachykinin precursor 1	gene	DOID:9007073	Cough	treatment	ISO	RGD:11379	D	RGD:9068941	20260507	RGD		associated with Mycoplasma pneumoniae pneumonia	PMID:40206065|REF_RGD_ID:645233565
12137632	TAC1	tachykinin precursor 1	gene	DOID:9007730	Burns		ISO	RGD:11379	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, lung	PMID:19797759|REF_RGD_ID:5147812
12137632	TAC1	tachykinin precursor 1	gene	DOID:9008385	Vomiting		ISO	RGD:619560	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31738934
12137632	TAC1	tachykinin precursor 1	gene	DOID:9008511	Extravasation of Diagnostic and Therapeutic Materials		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8938667|PMID:9622145
12137632	TAC1	tachykinin precursor 1	gene	DOID:9009039	Hyperemia		ISO	RGD:619560	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10564113|PMID:7507874
12137632	TAC1	tachykinin precursor 1	gene	DOID:9220	central sleep apnea		ISO	RGD:3807	D	RGD:9068941	20200609	RGD			PMID:18420958|REF_RGD_ID:2304275
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:7240710	20200520	OMIM			
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:0112119	combined oxidative phosphorylation deficiency 41		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 41 | ClinVar Annotator: match by term: GATB-related condition	PMID:25741868|PMID:30283131|PMID:38703036
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3070	high grade glioma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:3275	thymoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1317305	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:30283131
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137659	GATB	glutamyl-tRNA amidotransferase subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317305	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0050817	Stargardt disease		ISO	RGD:1606119	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: STGD	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1606119	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive	PMID:25741868
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		IAGP		D	RGD:12801476	20250122	OMIA		Neuronal ceroid lipofuscinosis, 7	PMID:25551667|PMID:26762174|PMID:27145727|PMID:27211611|PMID:28860089|PMID:32219101|PMID:33769611|PMID:35565635|PMID:38003185|PMID:39434657
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:7240710	20180130	OMIM			
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1606119	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis neuronal 7 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 7 | ClinVar Annotator: match by term: MFSD8-related condition | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7	PMID:16199547|PMID:17564970|PMID:17576681|PMID:18850119|PMID:19177532|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27146152|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:28794409|PMID:29655203|PMID:29924869|PMID:30382371|PMID:30548430|PMID:31006324|PMID:31105743|PMID:31440721|PMID:31489614|PMID:31597037|PMID:31721179|PMID:32005694|PMID:32037395|PMID:32399599|PMID:35457110|PMID:35917699|PMID:36374771|PMID:36435927|PMID:36972931|PMID:37090936|PMID:37250406|PMID:38468460|PMID:39108195|PMID:9177532|PMID:9536098
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:33546218
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:25741915|PMID:25741916|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34828358|PMID:35457110|PMID:36972931
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:16199547|PMID:17564970|PMID:18414213|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25439737|PMID:25741868|PMID:26467025|PMID:26681805|PMID:27884173|PMID:28224992|PMID:28492532|PMID:28559085|PMID:28586915|PMID:28600779|PMID:28758139|PMID:30215852|PMID:30382371|PMID:31489614|PMID:32399599|PMID:33546218|PMID:34426522|PMID:34828358|PMID:35457110|PMID:36972931
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1606119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis	PMID:16199547|PMID:17564970|PMID:17576681|PMID:19177532|PMID:19201763|PMID:21990111|PMID:22612257|PMID:22668694|PMID:24033266|PMID:25227500|PMID:25333361|PMID:25439737|PMID:25741868|PMID:25976102|PMID:26075876|PMID:26467025|PMID:27848944|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28600779|PMID:28708303|PMID:29389947|PMID:29655203|PMID:30382371|PMID:31006324|PMID:31069529|PMID:31216804|PMID:31489614|PMID:31589614|PMID:31618753|PMID:31741823|PMID:32005694|PMID:32037395|PMID:32399599|PMID:32581362|PMID:33084218|PMID:33546218|PMID:34469436|PMID:34828358|PMID:34849271|PMID:34888859|PMID:34910516|PMID:35087090|PMID:35457110|PMID:36801247|PMID:36912596|PMID:37250406|PMID:38659533|PMID:39062705|PMID:39563673|PMID:39675099|PMID:40327886|PMID:9536098
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17564970|PMID:25741868|PMID:39108195
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:25333361|PMID:28041643|PMID:28492532|PMID:28586915|PMID:31006324|PMID:32581362
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30382371
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:10907	microcephaly		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30382371
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:11832	visual epilepsy		ISO	RGD:1606119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:18414213|PMID:19277732|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26467025|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:29924869|PMID:31006324|PMID:32581362|PMID:33546218
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:12849	autistic disorder		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:28492532|PMID:30382371
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:19201763|PMID:19277732|PMID:22668694|PMID:25333361|PMID:25741868|PMID:26075876|PMID:28041643|PMID:28492532|PMID:28586915|PMID:28708303|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:34910516|PMID:35087090
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Jansky-Bielschowsky disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:18850119|PMID:19201763|PMID:19277732|PMID:20826447|PMID:21990111|PMID:22668694|PMID:25227500|PMID:25333361|PMID:25741868|PMID:26075876|PMID:26681805|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28586915|PMID:28708303|PMID:29655203|PMID:31006324|PMID:31741823|PMID:32037395|PMID:32581362|PMID:33546218|PMID:34828358|PMID:34910516|PMID:35087090|PMID:37074398
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:17564970|PMID:18850119|PMID:20826447|PMID:25741868|PMID:28492532|PMID:29655203|PMID:37074398|PMID:39108195
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:1826	epilepsy		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:30382371
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1606119	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:630	genetic disease		ISO	RGD:1606119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17564970|PMID:25741868|PMID:28492532|PMID:30382371|PMID:39108195
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:19177532|PMID:25227500|PMID:25741868|PMID:28492532|PMID:28586915|PMID:30543658|PMID:36909829
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:17564970|PMID:25741868|PMID:39108195
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:7240710	20180130	OMIM			
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:9004170	Macular Dystrophy with Central Cone Involvement		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macular dystrophy with central cone involvement	PMID:16199547|PMID:19177532|PMID:25227500|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28586915|PMID:30382371|PMID:33546218|PMID:35457110
12137676	MFSD8	major facilitator superfamily domain containing 8	gene	DOID:9004866	Ataxia		ISO	RGD:1606119	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Limb ataxia	PMID:17564970|PMID:25741868|PMID:39108195
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:10534	stomach cancer		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:1115	sarcoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:1324	lung cancer		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137715	GPLD1	glycosylphosphatidylinositol specific phospholipase D1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:1594532	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver, cytosolic proteasome complex (rat)	PMID:19609968|REF_RGD_ID:9480236
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:12849	autistic disorder		ISO	RGD:13610798	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autism	PMID:18414213
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:1909	melanoma		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:769	neuroblastoma		ISO	RGD:1315018	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30871063
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:9000918	Disease Progression		ISO	RGD:1315018	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30871063
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137754	PSMD14	proteasome 26S subunit, non-ATPase 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606022	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1606022	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19242545
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:1324	lung cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:1909	melanoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137768	SEZ6L2	seizure related 6 homolog like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:0081447	cone-rod dystrophy 21		ISO	RGD:1604537	D	RGD:7240710	20180130	OMIM			
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:0081447	cone-rod dystrophy 21		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CONE-ROD DYSTROPHY 21 | ClinVar Annotator: match by term: Cone-rod dystrophy 21 | ClinVar Annotator: match by term: DRAM2-related disorder	PMID:25741868|PMID:25983245|PMID:28492532
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:0111022	cone-rod dystrophy 16		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy with early macular involvement	PMID:25741868|PMID:28492532
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:1909	melanoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:3275	thymoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:5679	retinal disease		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:630	genetic disease		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604537	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal Dystrophy | ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:25741868|PMID:25983245|PMID:28492532|PMID:32483926|PMID:35806404
12137795	DRAM2	DNA damage regulated autophagy modulator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137820	PCNX4	pecanex 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:10534	stomach cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137820	PCNX4	pecanex 4	gene	DOID:1115	sarcoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137820	PCNX4	pecanex 4	gene	DOID:1324	lung cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137820	PCNX4	pecanex 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:4362	cervical cancer		ISO	RGD:1348042	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137820	PCNX4	pecanex 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137820	PCNX4	pecanex 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12137820	PCNX4	pecanex 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137820	PCNX4	pecanex 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137820	PCNX4	pecanex 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1348042	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1313480	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exonp.G726R (c.2176G>A) (human)	PMID:17559086|REF_RGD_ID:11065022
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pagon syndrome	PMID:25741868|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1313480	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:15894594|PMID:16199547|PMID:17559086|PMID:18414213|PMID:18752264|PMID:24183756|PMID:25741868|PMID:26495167|PMID:27457812|PMID:28492532|PMID:33200426
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0110298	autosomal recessive limb-girdle muscular dystrophy type 2N		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2N | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:22958903|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:27854218|PMID:27894351|PMID:28492532|PMID:28980384|PMID:29175898|PMID:29759639|PMID:30060766|PMID:30827497|PMID:32140910|PMID:32528171|PMID:33200426|PMID:34413876|PMID:35628876|PMID:37273706|PMID:37526466|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0110873	holoprosencephaly 9		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar cyst	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: HARD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:17559086|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:26467025|PMID:27854218|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:25741868|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0111240	congenital muscular dystrophy-dystroglycanopathy type A2		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:16701995|PMID:17559086|PMID:17576681|PMID:17634419|PMID:17869517|PMID:17878207|PMID:17878297|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19138766|PMID:19299310|PMID:22323514|PMID:22700954|PMID:24002165|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:27854218|PMID:28492532|PMID:29175898|PMID:29759639|PMID:30827497|PMID:33200426|PMID:34413876|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:7240710	20180130	OMIM			
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:0112380	muscular dystrophy-dystroglycanopathy type B2		ISO	RGD:1313480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED	PMID:15894594|PMID:16199547|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18414213|PMID:18513969|PMID:18752264|PMID:19299310|PMID:22323514|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26495167|PMID:27457812|PMID:28492532|PMID:29175898|PMID:33200426|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:11830	myopia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:14784	olivopontocerebellar atrophy		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Olivopontocerebellar hypoplasia	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:1596	depressive disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:1909	melanoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:2841	asthma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:15894594|PMID:25741868|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:630	genetic disease		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15894594|PMID:25741868|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Precocious puberty	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9007736	Vertigo		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:17576681|PMID:18414213|PMID:18752264|PMID:25741868|PMID:28492532|PMID:9536098
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1313480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:15894594|PMID:17634419|PMID:17878207|PMID:17878297|PMID:19138766|PMID:19299310|PMID:24002165|PMID:25741868|PMID:27854218|PMID:28492532
12137840	POMT2	protein O-mannosyltransferase 2	gene	DOID:9970	obesity		ISO	RGD:1313480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27125181|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28492532|PMID:28655553|PMID:30739908|PMID:31624717
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25326637|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:31624717
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27647783|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32867844|PMID:32897753|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34498425|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:37042257|PMID:37998513|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANEURYSM, AORTIC AND CEREBRAL, WITH ARTERIAL TORTUOSITY AND SKELETAL MANIFESTATIONS | ClinVar Annotator: match by term: Loeys-Dietz syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome type 1A	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25326635|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27647783|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32867844|PMID:32897753|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34498425|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37042257|PMID:37937776|PMID:37998513|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050466	Loeys-Dietz syndrome		ISO	RGD:733386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Loeys-Dietz Syndrome | ClinVar Annotator: match by term: Loeys-Dietz syndrome	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25521989|PMID:25589165|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25944730|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27146836|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28387797|PMID:28492532|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29706644|PMID:29907982|PMID:30059548|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31624717|PMID:31915033|PMID:32339686|PMID:32897753|PMID:33824467|PMID:34422331|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36103205|PMID:36237225|PMID:36584339|PMID:37937776|PMID:37998513|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0050946	Charlevoix-Saguenay spastic ataxia		ISO	RGD:733386	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Charlevoix-Saguenay spastic ataxia	PMID:25326637|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0060058	lymphoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0060249	scoliosis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0070235	Loeys-Dietz syndrome 1		ISO	RGD:733386	D	RGD:7240710	20260812	OMIM			
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0070235	Loeys-Dietz syndrome 1		ISO	RGD:733386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AORTIC ANEURYSM, FAMILIAL THORACIC 5 | ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 5 | ClinVar Annotator: match by term: LOEYS-DIETZ SYNDROME 1 | ClinVar Annotator: match by term: Loeys-Dietz syndrome 1 | ClinVar Annotator: match by term: TGFBR1-related disorder	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:18852674|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25589165|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25944730|PMID:26017485|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28659821|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33436942|PMID:33693090|PMID:33824467|PMID:34270679|PMID:34422331|PMID:35092149|PMID:36103205|PMID:36237225|PMID:37937776|PMID:40612107|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0080332	bicuspid aortic valve disease		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bicuspid aortic valve	PMID:25741868|PMID:25834947|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:0080685	aortic dissection		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic dissection | ClinVar Annotator: match by term: Ascending aortic dissection	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:1115	sarcoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:11162	respiratory failure		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:11830	myopia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25834947|PMID:25944730|PMID:28209770|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:127	leiomyoma		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:17505012|REF_RGD_ID:2302021
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:733386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:24033266|PMID:25260786|PMID:25741868|PMID:26017485|PMID:27011056|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27558455|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28492532|PMID:28655553|PMID:29543232|PMID:30087447|PMID:30675029|PMID:30739908|PMID:31624717|PMID:31837199|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25521989|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29907982|PMID:30087447|PMID:30675029|PMID:31624717|PMID:31837199|PMID:31915033|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27611364|PMID:27879313|PMID:28152038|PMID:28166811|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30675029|PMID:30701076|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:33256177|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19839986|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35830949|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35830949|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34456753|PMID:35092149|PMID:35181021|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36584339|PMID:36937954|PMID:37998513|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25326637|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:12499371|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16835936|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19159394|PMID:19542084|PMID:19561605|PMID:19763152|PMID:19839986|PMID:19883511|PMID:20307669|PMID:20332227|PMID:20813212|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22406018|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23672593|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24792298|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25260786|PMID:25326635|PMID:25437144|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25640679|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26017485|PMID:26188975|PMID:2647812|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27125181|PMID:27146836|PMID:27153395|PMID:27508510|PMID:27558455|PMID:27611364|PMID:27647783|PMID:27724990|PMID:27879313|PMID:28152038|PMID:28209770|PMID:28492532|PMID:28550590|PMID:28655553|PMID:28659821|PMID:29192238|PMID:29510914|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30087447|PMID:30219046|PMID:30513140|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31279624|PMID:31475485|PMID:31569402|PMID:31624717|PMID:31837199|PMID:31915033|PMID:32339686|PMID:32352226|PMID:32778766|PMID:32867844|PMID:33057194|PMID:33059708|PMID:33256177|PMID:33436942|PMID:33824467|PMID:34422331|PMID:34456753|PMID:34498425|PMID:35092149|PMID:35181021|PMID:35753512|PMID:35830949|PMID:35903967|PMID:36103205|PMID:36237225|PMID:36580209|PMID:36584339|PMID:36937954|PMID:37010288|PMID:37042257|PMID:37937776|PMID:37998513|PMID:38774681|PMID:5173258|PMID:8499949|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24055113|PMID:24793577|PMID:24931266|PMID:25110237|PMID:2511639|PMID:25116393|PMID:25504618|PMID:25521989|PMID:25589165|PMID:25637381|PMID:25741868|PMID:25834947|PMID:25907466|PMID:25944730|PMID:25985138|PMID:26848186|PMID:26877057|PMID:27037046|PMID:27146836|PMID:27153395|PMID:27647783|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28550590|PMID:29192238|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33824467|PMID:35092149|PMID:35181021|PMID:36103205|PMID:36237225|PMID:36937954|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:10025408|PMID:15731757|PMID:16199547|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23103230|PMID:23142374|PMID:23884466|PMID:24033266|PMID:24793577|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25521989|PMID:25589165|PMID:25741868|PMID:25834947|PMID:25944730|PMID:26017485|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27037046|PMID:27146836|PMID:27879313|PMID:28209770|PMID:28492532|PMID:29192238|PMID:29543232|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30675029|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:32352226|PMID:33824467|PMID:35092149|PMID:35181021|PMID:36103205|PMID:36237225
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14323	Marfan syndrome		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome | ClinVar Annotator: match by term: Marfan's syndrome	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:16199547|PMID:21358634|PMID:28492532|PMID:35101336
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:733386	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:28492532|PMID:30675029
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:1580	diffuse scleroderma		ISO	RGD:733386	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27228633
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:1596	depressive disorder		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:1909	melanoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:2030	anxiety disorder		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:17366323|REF_RGD_ID:2302024
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:2340	craniosynostosis		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:31837199
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:2661	myoepithelioma		ISO	RGD:733386	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:2841	asthma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:28659821|PMID:34422331|PMID:37937776
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:733386	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34677723
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:327	syringomyelia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:348	blepharochalasis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharochalasis	PMID:25741868|PMID:25834947|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:3498	pancreatic ductal adenocarcinoma	ameliorates	ISO	RGD:733386	D	RGD:9068941	20221027	RGD		human cell line in a mouse model	PMID:17297450|REF_RGD_ID:155630637
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	PMID:25741868|PMID:37823753
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:17613544|REF_RGD_ID:2306282
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:16199547|PMID:21358634|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:418	systemic scleroderma		ISO	RGD:736083	D	RGD:9068941	20240425	MouseDO		OMIM:181750	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:4676	uremia		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28560358
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:520	aortic disease		ISO	RGD:733386	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial aortopathy	PMID:10025408|PMID:16799921|PMID:16928994|PMID:19542084|PMID:23884466|PMID:25741868|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:557	kidney disease		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:18198643|REF_RGD_ID:2302020
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5585	Ferguson-Smith tumor		ISO	RGD:733386	D	RGD:7240710	20260812	OMIM			
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5585	Ferguson-Smith tumor		ISO	RGD:733386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial keratoacanthoma | ClinVar Annotator: match by term: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma | ClinVar Annotator: match by term: TGFBR1-related disorder	PMID:10025408|PMID:15731757|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:17576681|PMID:17652900|PMID:18455604|PMID:18781618|PMID:19542084|PMID:21267002|PMID:21358634|PMID:22113417|PMID:22414221|PMID:23064905|PMID:23142374|PMID:23358096|PMID:23884466|PMID:24033266|PMID:24931266|PMID:25110237|PMID:25116393|PMID:25260786|PMID:25521989|PMID:25589165|PMID:25715477|PMID:25741868|PMID:25834947|PMID:25944730|PMID:26017485|PMID:26848186|PMID:26877057|PMID:27011056|PMID:27146836|PMID:27879313|PMID:28209770|PMID:28492532|PMID:28659821|PMID:29192238|PMID:29706644|PMID:29907982|PMID:30219046|PMID:30701076|PMID:30739908|PMID:31915033|PMID:32339686|PMID:33256177|PMID:33824467|PMID:34422331|PMID:35092149|PMID:36103205|PMID:36237225|PMID:37937776|PMID:9536098
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5644	tricuspid valve prolapse		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tricuspid valve prolapse	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:57	aortic valve insufficiency		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic regurgitation	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:5844	myocardial infarction		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:10198196|REF_RGD_ID:1601617
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:18202349|REF_RGD_ID:2302019
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:65	connective tissue disease		ISO	RGD:733386	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal aortic aneurysm	PMID:25741868|PMID:25834947|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736083	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:612400	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733386	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:12808151|REF_RGD_ID:737735
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001224	Striae Distensae		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	PMID:25741868|PMID:25834947|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001510	Funnel Chest		ISO	RGD:733386	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001516	Familial Thoracic Aortic Aneurysm 6		ISO	RGD:733386	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 6	PMID:25741868|PMID:27879313|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001528	ARTERIAL DISSECTION		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arterial dissection	PMID:23064905|PMID:25741868|PMID:28492532|PMID:29192238|PMID:30701076|PMID:32339686|PMID:36103205
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3852	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16009107|REF_RGD_ID:1601595
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736083	D	RGD:9068941	20200609	RGD			PMID:15723089|REF_RGD_ID:2302027
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:733386	D	RGD:9068941	20200924	RGD		mRNA:increased expression:lung	PMID:25593290|REF_RGD_ID:38500244
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3852	D	RGD:9068941	20200609	RGD		associated with Experimental Pancreatitis, Chronic	PMID:26645248|REF_RGD_ID:14995470
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9003279	Joint Dislocations		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004097	Marfanoid Hypermobility Syndrome		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome type 1	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21358634
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9005077	Joint Instability		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	RGD			PMID:12808151|REF_RGD_ID:737735
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9005367	Arachnodactyly		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9005890	Disproportionate Tall Stature		ISO	RGD:733386	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Disproportionate tall stature	PMID:16596670|PMID:16791849|PMID:16928994|PMID:18781618|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:28209770|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9006045	Dissecting Aneurysm		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22772368
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3852	D	RGD:9068941	20230527	RGD		mRNA:increased expression:carotic artery (rat)	PMID:9622270|REF_RGD_ID:329845558
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733386	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27228633
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:10025408|PMID:16799921|PMID:19542084|PMID:25741868|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28560358
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10025408|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28209770|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733386	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703712
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733386	D	RGD:9068941	20221027	RGD		sporadic colorectal cancer;DNA:deletion:exon: (rs11466445) (human)	PMID:24880985|REF_RGD_ID:155630638
12137866	TGFBR1	transforming growth factor beta receptor 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:733386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:10025408|PMID:16596670|PMID:16791849|PMID:16799921|PMID:16928994|PMID:18781618|PMID:19542084|PMID:21267002|PMID:22414221|PMID:23884466|PMID:25521989|PMID:25741868|PMID:25944730|PMID:26848186|PMID:26877057|PMID:27879313|PMID:28209770|PMID:28492532|PMID:30739908|PMID:31915033|PMID:35092149|PMID:36237225
12137878	CLSPN	claspin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137878	CLSPN	claspin	gene	DOID:0080600	COVID-19		ISO	RGD:1319224	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12137878	CLSPN	claspin	gene	DOID:10534	stomach cancer		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12137878	CLSPN	claspin	gene	DOID:1324	lung cancer		ISO	RGD:1319224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137878	CLSPN	claspin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137878	CLSPN	claspin	gene	DOID:2661	myoepithelioma		ISO	RGD:1319224	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12137878	CLSPN	claspin	gene	DOID:3070	high grade glioma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12137878	CLSPN	claspin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137878	CLSPN	claspin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137878	CLSPN	claspin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12137878	CLSPN	claspin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12137878	CLSPN	claspin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137878	CLSPN	claspin	gene	DOID:9256	colorectal cancer		ISO	RGD:1319224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12137910	NPTX1	neuronal pentraxin 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12137910	NPTX1	neuronal pentraxin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321571	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12137910	NPTX1	neuronal pentraxin 1	gene	DOID:630	genetic disease		ISO	RGD:1321571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12137910	NPTX1	neuronal pentraxin 1	gene	DOID:9002396	Spinocerebellar Ataxia 50		ISO	RGD:1321571	D	RGD:7240710	20230104	OMIM			
12137910	NPTX1	neuronal pentraxin 1	gene	DOID:9002396	Spinocerebellar Ataxia 50		ISO	RGD:1321571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 50 | ClinVar Annotator: match by term: Spinocerebellar ataxia 50	PMID:25741868|PMID:34788392|PMID:35285082|PMID:35560436
12137919	YJEFN3	YjeF N-terminal domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26039340
12137919	YJEFN3	YjeF N-terminal domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137919	YJEFN3	YjeF N-terminal domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137931	MYO9B	myosin IXB	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12137931	MYO9B	myosin IXB	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12137931	MYO9B	myosin IXB	gene	DOID:10534	stomach cancer		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:10608	celiac disease		ISO	RGD:736717	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Celiac disease, susceptibility to, 4	PMID:25741868
12137931	MYO9B	myosin IXB	gene	DOID:1115	sarcoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12137931	MYO9B	myosin IXB	gene	DOID:1324	lung cancer		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12137931	MYO9B	myosin IXB	gene	DOID:1909	melanoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12137931	MYO9B	myosin IXB	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12137931	MYO9B	myosin IXB	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12137931	MYO9B	myosin IXB	gene	DOID:4362	cervical cancer		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12137931	MYO9B	myosin IXB	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12137931	MYO9B	myosin IXB	gene	DOID:5041	esophageal cancer		ISO	RGD:736717	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137931	MYO9B	myosin IXB	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:6039	uveal melanoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12137931	MYO9B	myosin IXB	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12137931	MYO9B	myosin IXB	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736717	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12137931	MYO9B	myosin IXB	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12137931	MYO9B	myosin IXB	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137931	MYO9B	myosin IXB	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12137931	MYO9B	myosin IXB	gene	DOID:9256	colorectal cancer		ISO	RGD:736717	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16885356
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:0080016	spina bifida		ISO	RGD:731376	D	RGD:9068941	20200609	RGD			PMID:11953746|REF_RGD_ID:737785
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:289	endometriosis		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:299	adenocarcinoma		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059332
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:7941	Barrett's adenocarcinoma		ISO	RGD:731375	D	RGD:9068941	20200609	RGD			PMID:18059332|REF_RGD_ID:13782259
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:8866	actinic keratosis		ISO	RGD:731375	D	RGD:9068941	20200609	RGD			PMID:22179182|REF_RGD_ID:13782258
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059332
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16885356
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:620161	D	RGD:9068941	20200609	RGD			PMID:22554462|REF_RGD_ID:13782256
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9008550	Vitamin A Deficiency	treatment	ISO	RGD:731376	D	RGD:9068941	20200609	RGD			PMID:25451926|REF_RGD_ID:13782197
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731375	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12137992	CYP26A1	cytochrome P450 family 26 subfamily A member 1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:731375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18059332
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:0090025	split hand-foot malformation 3		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Split hand-foot malformation 3 | ClinVar Annotator: match by term: Split-hand/foot malformation 3	PMID:12913067|PMID:25741868|PMID:28492532
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:14289	Ebstein anomaly		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ebstein anomaly	PMID:25741868
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:2468	psychotic disorder		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:5805	subvalvular aortic stenosis		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Subvalvular aortic stenosis	PMID:25741868
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138003	FBXW4	F-box and WD repeat domain containing 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1603710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12974740|PMID:25741868
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:621537	D	RGD:9068941	20231228	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:22253714|REF_RGD_ID:401900163
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:734108	D	RGD:9068941	20231228	RGD		mRNA:decreased expression:hippocampus (human)	PMID:22253714|REF_RGD_ID:401900163
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNP, haplotype:intron: C>G (rs29220) (human)	PMID:26727527|REF_RGD_ID:11552767
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNP:intron: (rs29253) (human)	PMID:25191505|REF_RGD_ID:401940100
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20240222	RGD		DNA:SNP:Exon 11: T1974C (Human)	PMID:10412185|REF_RGD_ID:401959601
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:621537	D	RGD:9068941	20240224	RGD			PMID:36095322|REF_RGD_ID:401976442
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNP:intron:  (rs29220) (human)	PMID:29968397|REF_RGD_ID:401940102
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:734109	D	RGD:9068941	20240224	RGD			PMID:36095322|REF_RGD_ID:401976442
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNPs,haplotypes:intron 6,exon 16,intron 17: (rs2267635,rs29230, rs29267)	PMID:19763258|REF_RGD_ID:401940104
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:734108	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Neurofibromatosis, type 1	PMID:25741868
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:10763	hypertension		ISO	RGD:621537	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:18338268|REF_RGD_ID:2315462
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:12849	autistic disorder		ISO	RGD:734108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16770606|PMID:19002745
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:734108	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:734108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atopic dermatitis	PMID:25741868
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:734108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:670	amphetamine abuse	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNPs, halotypes:intron (rs2076483,rs29221,rs715044) (human)	PMID:30143926|REF_RGD_ID:401940101
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9002362	Hyperkinesis		ISO	RGD:734108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16990508
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:734108	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621537	D	RGD:9068941	20200609	RGD			PMID:2849069|REF_RGD_ID:2315971
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621537	D	RGD:9068941	20241114	RGD			PMID:15153780|REF_RGD_ID:2315492
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:621537	D	RGD:9068941	20241114	RGD		protein:altered location:forebrain	PMID:19054408|REF_RGD_ID:2315437
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9008326	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES		ISO	RGD:734108	D	RGD:7240710	20240619	OMIM			
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9008326	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES		ISO	RGD:734108	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with language delay and variable cognitive abnormalities	PMID:25741868|PMID:36103875
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9975	cocaine dependence		ISO	RGD:734108	D	RGD:9068941	20231228	RGD		mRNA:decreased expression:hippocampus (human)	PMID:22253714|REF_RGD_ID:401900163
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9975	cocaine dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNP:intron: C>G (rs29220) (human)	PMID:26727527|REF_RGD_ID:11552767
12138025	GABBR1	gamma-aminobutyric acid type B receptor subunit 1	gene	DOID:9976	heroin dependence	susceptibility	ISO	RGD:734108	D	RGD:9068941	20231228	RGD		DNA:SNP:intron: C>G (rs29220) (human)	PMID:26727527|REF_RGD_ID:11552767
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138048	ABHD4	abhydrolase domain containing 4, N-acyl phospholipase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323534	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0050722	PHGDH deficiency		ISO	RGD:737224	D	RGD:7240710	20210114	OMIM			
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0050722	PHGDH deficiency		ISO	RGD:737224	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: PHGDH deficiency | ClinVar Annotator: match by term: PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: Phosphoglycerate dehydrogenase deficiency	PMID:11055895|PMID:11751922|PMID:14645240|PMID:16199547|PMID:17576681|PMID:19235232|PMID:20196394|PMID:21113737|PMID:22393170|PMID:22886422|PMID:23564319|PMID:24836451|PMID:25152457|PMID:25741868|PMID:25913727|PMID:26467025|PMID:26610677|PMID:28135894|PMID:28252636|PMID:28440900|PMID:28492532|PMID:28903583|PMID:29018476|PMID:29286531|PMID:29703746|PMID:30348640|PMID:30838783|PMID:32404165|PMID:32579715|PMID:33087887|PMID:33565074|PMID:33726816|PMID:33753166|PMID:33758422|PMID:34055682|PMID:35587316|PMID:36066546|PMID:36163279|PMID:37650587|PMID:37653029|PMID:37758168|PMID:38807256|PMID:39638571|PMID:9536098
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0060058	lymphoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0070297	primary microcephaly		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0080076	Neu-Laxova syndrome 1		ISO	RGD:737224	D	RGD:7240710	20210114	OMIM			
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:0080076	Neu-Laxova syndrome 1		ISO	RGD:737224	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEU-LAXOVA SYNDROME 1 | ClinVar Annotator: match by term: Neu-Laxova syndrome 1 | ClinVar Annotator: match by term: PHGDH-related disorder	PMID:14645240|PMID:16199547|PMID:19235232|PMID:20196394|PMID:22393170|PMID:24836451|PMID:25152457|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29286531|PMID:29703746|PMID:33753166|PMID:33758422|PMID:36163279|PMID:37115691|PMID:37653029|PMID:37758168|PMID:38807256|PMID:39191258
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:10534	stomach cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:14264	benign neonatal seizures		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal seizure	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:737224	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:1827	generalized epilepsy		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:2394	ovarian cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:2736	Hajdu-Cheney syndrome		ISO	RGD:151775071|RGD:405873833	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hajdu-Cheney syndrome | ClinVar Annotator: match by term: NOTCH2-related condition	PMID:28492532
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:3275	thymoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:26482881
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:4362	cervical cancer		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:5041	esophageal cancer		ISO	RGD:737224	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029|PMID:9536098
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:6039	uveal melanoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22393170|PMID:25741868|PMID:28492532|PMID:33758422
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:14645240|PMID:16199547|PMID:24836451|PMID:25741868|PMID:28492532|PMID:29286531|PMID:29703746
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737224	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:21804546
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737224	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:36163279|PMID:37653029
12138075	PHGDH	phosphoglycerate dehydrogenase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:737224	D	RGD:9068941	20210122	RGD		PHGDH deficiency, OMIM:601815, DNA:point mutation:exon:V490M	PMID:11055895|REF_RGD_ID:1600412
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1604378	D	RGD:9068941	20220224	RGD			PMID:29367342|REF_RGD_ID:151361142
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:1115	sarcoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:1324	lung cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:1909	melanoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:4362	cervical cancer		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138091	GSE1	Gse1 coiled-coil protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138124	SH3GL3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:1115	sarcoma		ISO	RGD:731323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138124	SH3GL3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:5041	esophageal cancer		ISO	RGD:731323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138124	SH3GL3	SH3 domain containing GRB2 like 3, endophilin A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138150	GRP	gastrin releasing peptide	gene	DOID:10283	prostate cancer		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:1074	kidney failure		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:10914	amnestic disorder		ISO	RGD:737598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11564462
12138150	GRP	gastrin releasing peptide	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:552	pneumonia		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138150	GRP	gastrin releasing peptide	gene	DOID:6000	congestive heart failure		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:decreased expression:plasma (human)	PMID:1396815|REF_RGD_ID:401700398
12138150	GRP	gastrin releasing peptide	gene	DOID:6000	congestive heart failure	exacerbates	ISO	RGD:737598	D	RGD:9068941	20230727	RGD		protein:increased expression:plasma (human)	PMID:30145817|REF_RGD_ID:329961562
12138150	GRP	gastrin releasing peptide	gene	DOID:6039	uveal melanoma		ISO	RGD:737598	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12138150	GRP	gastrin releasing peptide	gene	DOID:6713	cerebrovascular disease		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138150	GRP	gastrin releasing peptide	gene	DOID:784	chronic kidney disease		ISO	RGD:621740	D	RGD:9068941	20230803	RGD		mRNA, protein:increased expression:aorta, plasma (human)	PMID:32192106|REF_RGD_ID:329961569
12138150	GRP	gastrin releasing peptide	gene	DOID:9000815	Aortic Calcification	treatment	ISO	RGD:732839	D	RGD:9068941	20230803	RGD		associated with chronic kidney disease	PMID:32192106|REF_RGD_ID:329961569
12138150	GRP	gastrin releasing peptide	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:737598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2910524
12138150	GRP	gastrin releasing peptide	gene	DOID:9006169	Head and Neck Neoplasms		ISO	RGD:737598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342401
12138150	GRP	gastrin releasing peptide	gene	DOID:9006202	Pruritus		ISO	RGD:737598	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29669290
12138150	GRP	gastrin releasing peptide	gene	DOID:9256	colorectal cancer		ISO	RGD:737598	D	RGD:9068941	20230803	RGD		protein:increased expression:serum (human)	PMID:30146822|REF_RGD_ID:401700396
12138170	MYF6	myogenic factor 6	gene	DOID:0080089	tubular aggregate myopathy 1		ISO	RGD:731932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT	PMID:25741868|PMID:28492532
12138170	MYF6	myogenic factor 6	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:731932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12138170	MYF6	myogenic factor 6	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:731932	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 3	PMID:25741868|PMID:28492532
12138170	MYF6	myogenic factor 6	gene	DOID:1324	lung cancer		ISO	RGD:731932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138170	MYF6	myogenic factor 6	gene	DOID:422	congenital structural myopathy		ISO	RGD:731932	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy | ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy	PMID:11053684|PMID:17576681|PMID:25741868|PMID:28053302|PMID:28492532|PMID:9536098
12138170	MYF6	myogenic factor 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138177	IL9R	interleukin 9 receptor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138177	IL9R	interleukin 9 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138177	IL9R	interleukin 9 receptor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138177	IL9R	interleukin 9 receptor	gene	DOID:1324	lung cancer		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138177	IL9R	interleukin 9 receptor	gene	DOID:1485	cystic fibrosis		ISO	RGD:735670	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system mucosa	PMID:12782818|REF_RGD_ID:5128699
12138177	IL9R	interleukin 9 receptor	gene	DOID:1909	melanoma		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138177	IL9R	interleukin 9 receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138177	IL9R	interleukin 9 receptor	gene	DOID:2841	asthma		ISO	RGD:735670	D	RGD:9068941	20200609	RGD			PMID:10629460|REF_RGD_ID:5128704
12138177	IL9R	interleukin 9 receptor	gene	DOID:409	liver disease		ISO	RGD:735670	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12138177	IL9R	interleukin 9 receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:735670	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138177	IL9R	interleukin 9 receptor	gene	DOID:9000998	Brain Injuries		ISO	RGD:735670	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
12138177	IL9R	interleukin 9 receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138177	IL9R	interleukin 9 receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735670	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:16880463|PMID:16979952|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20560808|PMID:21243428|PMID:21349849|PMID:21452290|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9106528|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11903354|PMID:11904676|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12885340|PMID:12915468|PMID:14618419|PMID:14673107|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15546588|PMID:15858186|PMID:16132052|PMID:16186539|PMID:16879202|PMID:17042772|PMID:17210810|PMID:17308297|PMID:17389307|PMID:17450498|PMID:17600748|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:19560233|PMID:20301613|PMID:20471131|PMID:20560808|PMID:21243428|PMID:21349849|PMID:22531912|PMID:23178241|PMID:23429074|PMID:23953397|PMID:24033266|PMID:24604426|PMID:24729993|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26975792|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28280078|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31061747|PMID:31220083|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.H63D (human)	PMID:23861158|REF_RGD_ID:10755538
12138208	HFE	homeostatic iron regulator	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:missense mutation: :p.C282Y (human)	PMID:23861158|REF_RGD_ID:10755538
12138208	HFE	homeostatic iron regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17001480
12138208	HFE	homeostatic iron regulator	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.H63D, p.C282Y (human)	PMID:12624489|REF_RGD_ID:10755559
12138208	HFE	homeostatic iron regulator	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20808228
12138208	HFE	homeostatic iron regulator	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:2793	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, Kupffer cell (rat)	PMID:18599584|REF_RGD_ID:8694397
12138208	HFE	homeostatic iron regulator	gene	DOID:0080177	hepatic veno-occlusive disease	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:15834437|REF_RGD_ID:8694354
12138208	HFE	homeostatic iron regulator	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:CDS:p.H63D	PMID:11473047|REF_RGD_ID:1601452
12138208	HFE	homeostatic iron regulator	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:9453491|REF_RGD_ID:8694420
12138208	HFE	homeostatic iron regulator	gene	DOID:0080348	Alzheimer's disease 1		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alzheimer disease type 1	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1345296	D	RGD:7240710	20230816	OMIM			
12138208	HFE	homeostatic iron regulator	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 1 | ClinVar Annotator: match by term: HFE-related condition | ClinVar Annotator: match by term: Hemochromatosis type 1	PMID:10401000|PMID:10575540|PMID:10930379|PMID:11875012|PMID:12737937|PMID:15775762|PMID:15965644|PMID:17240320|PMID:17576681|PMID:20722017|PMID:24033266|PMID:25741868|PMID:25850353|PMID:26456104|PMID:26799139|PMID:27518069|PMID:28492532|PMID:33791166|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:0111034	hemochromatosis type 2		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Juvenile hemochromatosis	PMID:10348824|PMID:16199547|PMID:25741868|PMID:27518069|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:10534	stomach cancer		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345296	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:15060098|PMID:17047092
12138208	HFE	homeostatic iron regulator	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1345296	D	RGD:9068941	20250724	RGD		with Tf C2 variant;DNA:missense mutation:cds:p.C282Y (human)	PMID:15060098|REF_RGD_ID:1358657
12138208	HFE	homeostatic iron regulator	gene	DOID:11713	diabetic angiopathy		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 7	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:11758	iron deficiency anemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with celiac disease;DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:29194702|REF_RGD_ID:14701052
12138208	HFE	homeostatic iron regulator	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:10348824|PMID:16199547|PMID:25741868|PMID:27518069|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:12241	beta thalassemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:14703689|REF_RGD_ID:10755489
12138208	HFE	homeostatic iron regulator	gene	DOID:12241	beta thalassemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (human)	PMID:17160266|REF_RGD_ID:10755537
12138208	HFE	homeostatic iron regulator	gene	DOID:12241	beta thalassemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.S65C (human)	PMID:17160266|REF_RGD_ID:10755537
12138208	HFE	homeostatic iron regulator	gene	DOID:12849	autistic disorder		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:12930	dilated cardiomyopathy	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:11040018|REF_RGD_ID:1582687
12138208	HFE	homeostatic iron regulator	gene	DOID:13580	cholestasis		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:14330	Parkinson's disease		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16824219
12138208	HFE	homeostatic iron regulator	gene	DOID:1485	cystic fibrosis		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cystic fibrosis	PMID:11358905|PMID:11399207|PMID:11423500|PMID:11479183|PMID:11532995|PMID:11812557|PMID:11874997|PMID:11904676|PMID:12429850|PMID:12885340|PMID:14673107|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16880463|PMID:16979952|PMID:17600748|PMID:18199861|PMID:18566337|PMID:19159930|PMID:19554541|PMID:19560233|PMID:20301613|PMID:21243428|PMID:21349849|PMID:23429074|PMID:24033266|PMID:24729993|PMID:25741868|PMID:26365338|PMID:26975792|PMID:28443246|PMID:28492532|PMID:28617828|PMID:30291871|PMID:31220083|PMID:31980526|PMID:8696333|PMID:8896550|PMID:8943161|PMID:9106528|PMID:9162021|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:1485	cystic fibrosis	severity	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:30291871|REF_RGD_ID:14701045
12138208	HFE	homeostatic iron regulator	gene	DOID:1612	breast cancer	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations, haplotype:cds:p.H63D, p.S65C, p.C282Y (human)	PMID:15894659|REF_RGD_ID:8694349
12138208	HFE	homeostatic iron regulator	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:14973098|REF_RGD_ID:8694348
12138208	HFE	homeostatic iron regulator	gene	DOID:1883	hepatitis C		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15865084
12138208	HFE	homeostatic iron regulator	gene	DOID:2352	hemochromatosis		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HFE INTRONIC POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10381492|PMID:10557317|PMID:10930379|PMID:11875012|PMID:12542741|PMID:15324319|PMID:15775762|PMID:16199547|PMID:17240320|PMID:17576681|PMID:18042412|PMID:18762941|PMID:21228038|PMID:21411349|PMID:24033266|PMID:24920245|PMID:25741868|PMID:26456104|PMID:26799139|PMID:27518069|PMID:28492532|PMID:9482913|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:2394	ovarian cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:16216474|REF_RGD_ID:8694371
12138208	HFE	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.C282Y, p.H63D (human)	PMID:17137171|REF_RGD_ID:8694367
12138208	HFE	homeostatic iron regulator	gene	DOID:3132	porphyria cutanea tarda	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20230817	RGD		DNA:missense mutations:cds:p.C282Y, p.H63D (human)	PMID:19001803|REF_RGD_ID:8694347
12138208	HFE	homeostatic iron regulator	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:12746412|REF_RGD_ID:1582673
12138208	HFE	homeostatic iron regulator	gene	DOID:3407	carotid artery disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:16886838|REF_RGD_ID:1582684
12138208	HFE	homeostatic iron regulator	gene	DOID:341	peripheral vascular disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:15175819|REF_RGD_ID:1582671
12138208	HFE	homeostatic iron regulator	gene	DOID:409	liver disease		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
12138208	HFE	homeostatic iron regulator	gene	DOID:4346	variegate porphyria		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PPOX deficiency | ClinVar Annotator: match by term: VARIEGATE PORPHYRIA	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11875012|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17240320|PMID:17389307|PMID:17450498|PMID:17576681|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:26456104|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:4346	variegate porphyria		ISO	RGD:1345296	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PPOX deficiency	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:4971	myelofibrosis	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)	PMID:19258483|REF_RGD_ID:10755491
12138208	HFE	homeostatic iron regulator	gene	DOID:4971	myelofibrosis	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)	PMID:19258483|REF_RGD_ID:10755491
12138208	HFE	homeostatic iron regulator	gene	DOID:5082	liver cirrhosis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.H63D, p.C282Y (human)	PMID:27816425|REF_RGD_ID:14701047
12138208	HFE	homeostatic iron regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138208	HFE	homeostatic iron regulator	gene	DOID:5844	myocardial infarction	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:12850485|REF_RGD_ID:1582672
12138208	HFE	homeostatic iron regulator	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:10491370|REF_RGD_ID:1582697
12138208	HFE	homeostatic iron regulator	gene	DOID:630	genetic disease		ISO	RGD:1345296	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:16047841|REF_RGD_ID:8694357
12138208	HFE	homeostatic iron regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:11875012|PMID:17240320|PMID:17576681|PMID:25741868|PMID:26456104|PMID:27518069|PMID:28492532|PMID:9536098
12138208	HFE	homeostatic iron regulator	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:29642405|REF_RGD_ID:14746967
12138208	HFE	homeostatic iron regulator	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
12138208	HFE	homeostatic iron regulator	gene	DOID:8398	osteoarthritis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
12138208	HFE	homeostatic iron regulator	gene	DOID:8437	intestinal obstruction		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)	PMID:30291871|REF_RGD_ID:14701045
12138208	HFE	homeostatic iron regulator	gene	DOID:8466	retinal degeneration		ISO	RGD:736272	D	RGD:9068941	20200609	RGD			PMID:19715555|REF_RGD_ID:8694351
12138208	HFE	homeostatic iron regulator	gene	DOID:853	polymyalgia rheumatica		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
12138208	HFE	homeostatic iron regulator	gene	DOID:8778	Crohn's disease	treatment	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs2071303 (human)	PMID:27115882|REF_RGD_ID:14701051
12138208	HFE	homeostatic iron regulator	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)	PMID:15347835|REF_RGD_ID:8694362
12138208	HFE	homeostatic iron regulator	gene	DOID:8997	polycythemia vera	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.H63D (c.408C>G) (rs1799945) (human)	PMID:19258483|REF_RGD_ID:10755491
12138208	HFE	homeostatic iron regulator	gene	DOID:8997	polycythemia vera	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.C282Y (c.1066G>A) (rs1800562) (human)	PMID:19258483|REF_RGD_ID:10755491
12138208	HFE	homeostatic iron regulator	gene	DOID:9000300	Refractory Anemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Thrombocytosis;DNA:missense mutation: :p.C282Y (human)	PMID:17654685|REF_RGD_ID:10755539
12138208	HFE	homeostatic iron regulator	gene	DOID:9000300	Refractory Anemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Thrombocytosis;DNA:missense mutation: :p.H63D (human)	PMID:17654685|REF_RGD_ID:10755539
12138208	HFE	homeostatic iron regulator	gene	DOID:9001934	Neonatal Sepsis		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal sepsis	PMID:25741868|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.C282Y (human)	PMID:15347835|REF_RGD_ID:8694362
12138208	HFE	homeostatic iron regulator	gene	DOID:9003996	Birth Weight		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659343
12138208	HFE	homeostatic iron regulator	gene	DOID:9004272	Varicose Ulcer	onset	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Chronic Venous Disease;DNA:missense mutation:cds:p.H63D (human)	PMID:16678024|REF_RGD_ID:8694379
12138208	HFE	homeostatic iron regulator	gene	DOID:9004272	Varicose Ulcer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Chronic Venous Disease;DNA:missense mutation:cds:p.C282Y (human)	PMID:16102632|REF_RGD_ID:1582685
12138208	HFE	homeostatic iron regulator	gene	DOID:9004866	Ataxia		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:9004898	Jaundice		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:25741868|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345296	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10381492|PMID:10575540|PMID:11040194|PMID:11812557|PMID:11903354|PMID:12542741|PMID:12693884|PMID:12707220|PMID:15254010|PMID:15858186|PMID:16132052|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:8696333|PMID:8931958|PMID:9162021|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9462220
12138208	HFE	homeostatic iron regulator	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Toxemia of pregnancy	PMID:25741868|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:9005725	Iron Overload		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (human)	PMID:14636644|REF_RGD_ID:10755536
12138208	HFE	homeostatic iron regulator	gene	DOID:9005725	Iron Overload		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with Beta-Thalassemia;DNA:missense mutation: :p.H63D (human)	PMID:11869934|REF_RGD_ID:10755541
12138208	HFE	homeostatic iron regulator	gene	DOID:9005725	Iron Overload	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :multiple	PMID:14636644|REF_RGD_ID:10755536
12138208	HFE	homeostatic iron regulator	gene	DOID:9005725	Iron Overload	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :p.C282Y, p.H63D (human)	PMID:10895137|REF_RGD_ID:10755542
12138208	HFE	homeostatic iron regulator	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1345296	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:28492532
12138208	HFE	homeostatic iron regulator	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30374069
12138208	HFE	homeostatic iron regulator	gene	DOID:9006465	Meconium Ileus		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human)	PMID:30291871|REF_RGD_ID:14701045
12138208	HFE	homeostatic iron regulator	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345296	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:10381492|PMID:10401000|PMID:10431233|PMID:11040194|PMID:11532995|PMID:11812557|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19444013|PMID:19554541|PMID:20301613|PMID:21243428|PMID:21452290|PMID:22531912|PMID:23953397|PMID:24033266|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31436889|PMID:31980526|PMID:32153640|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:8943161|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1345296	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:10381492|PMID:10401000|PMID:10431233|PMID:10575540|PMID:11040194|PMID:11532995|PMID:11812557|PMID:11903354|PMID:12241803|PMID:12429850|PMID:12436244|PMID:12542741|PMID:12693884|PMID:12707220|PMID:12915468|PMID:14618419|PMID:14729817|PMID:15060098|PMID:15070663|PMID:15254010|PMID:15280838|PMID:15347835|PMID:15858186|PMID:16132052|PMID:16879202|PMID:17389307|PMID:17450498|PMID:17828789|PMID:18199861|PMID:18499578|PMID:18504828|PMID:18566337|PMID:19084217|PMID:19159930|PMID:19429178|PMID:19444013|PMID:19554541|PMID:20301613|PMID:20471131|PMID:21243428|PMID:22531912|PMID:23178241|PMID:23953397|PMID:24033266|PMID:24604426|PMID:25457201|PMID:25728773|PMID:25741868|PMID:25741869|PMID:25850353|PMID:26153218|PMID:26365338|PMID:27124787|PMID:27518069|PMID:27659401|PMID:27890643|PMID:28492532|PMID:31061747|PMID:31335359|PMID:31436889|PMID:31980526|PMID:32153640|PMID:37260121|PMID:678784|PMID:8696333|PMID:8896549|PMID:8896550|PMID:8931958|PMID:9024376|PMID:9138148|PMID:9162021|PMID:9211748|PMID:9321765|PMID:9326341|PMID:9328324|PMID:9341868|PMID:9356458|PMID:9439654|PMID:9462220|PMID:9482831|PMID:9585606|PMID:9851896|PMID:9851897
12138208	HFE	homeostatic iron regulator	gene	DOID:9007102	Myocardial Ischemia	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD			PMID:11545759|REF_RGD_ID:1582695
12138208	HFE	homeostatic iron regulator	gene	DOID:9008520	Chronic Pain		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
12138208	HFE	homeostatic iron regulator	gene	DOID:9008824	Sarcopenia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30657865|REF_RGD_ID:14746966
12138208	HFE	homeostatic iron regulator	gene	DOID:9008914	Lead Poisoning		ISO	RGD:1345296	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20659343
12138208	HFE	homeostatic iron regulator	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.C282Y (human)	PMID:10383894|REF_RGD_ID:8694350
12138208	HFE	homeostatic iron regulator	gene	DOID:9351	diabetes mellitus		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.C282Y (rs1800562) (human)	PMID:30651232|REF_RGD_ID:14746965
12138208	HFE	homeostatic iron regulator	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345296	D	RGD:9068941	20260813	RGD		associated with cystic fibrosis;DNA:missense mutation: :p.C282Y (human)	PMID:30291871|REF_RGD_ID:14701045
12138208	HFE	homeostatic iron regulator	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:20097100|REF_RGD_ID:8694381
12138208	HFE	homeostatic iron regulator	gene	DOID:9452	steatotic liver disease	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		Non-alcoholic steatohepatitis (NASH)	PMID:12105842|REF_RGD_ID:1601460
12138208	HFE	homeostatic iron regulator	gene	DOID:9538	multiple myeloma	susceptibility	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation, haplotype:cds:p.C282Y (human)	PMID:10383894|REF_RGD_ID:8694350
12138208	HFE	homeostatic iron regulator	gene	DOID:9663	aphthous stomatitis		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.H63D (human)	PMID:28950260|REF_RGD_ID:14746964
12138208	HFE	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.H63D (human)	PMID:17107905|REF_RGD_ID:10755558
12138208	HFE	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C282Y (human)	PMID:10627122|REF_RGD_ID:10755557
12138208	HFE	homeostatic iron regulator	gene	DOID:9952	acute lymphoblastic leukemia	no_association	ISO	RGD:1345296	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.H63D (human)	PMID:10627122|REF_RGD_ID:10755557
12138208	HFE	homeostatic iron regulator	gene	DOID:9970	obesity		ISO	RGD:1345296	D	RGD:9068941	20260709	RGD		associated with Diabetes Mellitus, Type 2;DNA:missense mutations:CDS:p.C282Y, p.H63D (human)	PMID:10705106|REF_RGD_ID:1601449
12138208	Hfe	homeostatic iron regulator	gene	DOID:11476	osteoporosis		ISO	RGD:736272	D	RGD:9068941	20260813	RGD		associated with hemochromatosis	PMID:26829642|REF_RGD_ID:14746963
12138208	Hfe	homeostatic iron regulator	gene	DOID:9003936	Cardiomegaly		ISO	RGD:736272	D	RGD:9068941	20260813	RGD		associated with hemochromatosis	PMID:28720890|REF_RGD_ID:14746969
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:1115	sarcoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:1324	lung cancer		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:3275	thymoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605808	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138233	ZKSCAN2	zinc finger with KRAB and SCAN domains 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605808	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138247	RIMBP2	RIMS binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138330	CCDC197	coiled-coil domain containing 197	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138330	CCDC197	coiled-coil domain containing 197	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344728	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138431	LOC106559183	zinc finger protein 345	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138431	LOC106559183	zinc finger protein 345	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138431	LOC106559183	zinc finger protein 345	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138431	LOC106559183	zinc finger protein 345	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350063	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0111529	familial multiple nevi flammei		ISO	RGD:731425	D	RGD:7240710	20180214	OMIM			
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0111529	familial multiple nevi flammei		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial multiple nevi flammei	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:731425	D	RGD:7240710	20180130	OMIM			
12138460	GNAQ	G protein subunit alpha q	gene	DOID:0111563	Sturge-Weber syndrome		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalofacial angiomatosis | ClinVar Annotator: match by term: Sturge-Weber syndrome	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:10534	stomach cancer		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:11294	arteriovenous malformation		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:11782	astigmatism		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:12273	anisometropia		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anisometropia	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1247	blood coagulation disease		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9296496
12138460	GNAQ	G protein subunit alpha q	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9811897|REF_RGD_ID:1598475
12138460	GNAQ	G protein subunit alpha q	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1550022	D	RGD:9068941	20240425	MouseDO			
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16267159
12138460	GNAQ	G protein subunit alpha q	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1682	congenital heart disease		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9687499
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1686	glaucoma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1826	epilepsy		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1909	melanoma		ISO	RGD:731425	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:1328859|PMID:18719078|PMID:19078957|PMID:21083380|PMID:22253748|PMID:22653968|PMID:22733540|PMID:22808163|PMID:23656586|PMID:25157968|PMID:25188413|PMID:2549426|PMID:25741868
12138460	GNAQ	G protein subunit alpha q	gene	DOID:1909	melanoma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:255	hemangioma		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:2926	Klippel-Trenaunay syndrome		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: KTW syndrome	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:731425	D	RGD:9068941	20210423	RGD			PMID:24518087|REF_RGD_ID:126781753
12138460	GNAQ	G protein subunit alpha q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:5900	meningeal melanocytoma		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningeal melanocytoma	PMID:19936769|PMID:21487925|PMID:22307269|PMID:26744134|PMID:27993330|PMID:28499758|PMID:29891723|PMID:30204251|PMID:30352874|PMID:35804836
12138460	GNAQ	G protein subunit alpha q	gene	DOID:6000	congestive heart failure		ISO	RGD:1550022	D	RGD:9068941	20240425	MouseDO			
12138460	GNAQ	G protein subunit alpha q	gene	DOID:6000	congestive heart failure	disease_progression	ISO	RGD:731425	D	RGD:9068941	20210423	RGD		DNA:polymorphism:promoter:[-694C>T;-695G>T] (human)	PMID:17720980|REF_RGD_ID:126781754
12138460	GNAQ	G protein subunit alpha q	gene	DOID:6000	congestive heart failure	no_association	ISO	RGD:731425	D	RGD:9068941	20210423	RGD		DNA:polymorphisms:promoter:multiple	PMID:17720980|REF_RGD_ID:126781754
12138460	GNAQ	G protein subunit alpha q	gene	DOID:6039	uveal melanoma		ISO	RGD:731425	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	PMID:22733540|PMID:26397223|PMID:27089179
12138460	GNAQ	G protein subunit alpha q	gene	DOID:630	genetic disease		ISO	RGD:731425	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Skin ulcer	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9000495	Tremor		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9000590	Dyspnea		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9000641	Pain		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pain	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9001542	Albuminuria		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16267159
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9001616	Port-Wine Stain		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PORT-WINE STAIN	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9003507	Premature Birth		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9811897|REF_RGD_ID:1598475
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9005777	Nevus of Ota		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nevus of Ota	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9006976	Erythema		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Erythema	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9007722	Myoclonus		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1550022	D	RGD:9068941	20200609	RGD			PMID:9687499|REF_RGD_ID:737757
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:731425	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9687499
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9423	blepharitis		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Blepharitis	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138460	GNAQ	G protein subunit alpha q	gene	DOID:9903	meibomian cyst		ISO	RGD:731425	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chalazion	PMID:23656586|PMID:24882516|PMID:25741868|PMID:35101336|PMID:39434542
12138473	LRRC10	leucine rich repeat containing 10	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12138473	LRRC10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28166811|PMID:28492532
12138473	LRRC10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
12138473	LRRC10	leucine rich repeat containing 10	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1348592	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:28032242|PMID:28492532
12138473	LRRC10	leucine rich repeat containing 10	gene	DOID:6000	congestive heart failure		ISO	RGD:1348592	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:10763	hypertension		ISO	RGD:1351310	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22949526
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138478	OXSR1	oxidative stress responsive kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138507	TCF25	transcription factor 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:10534	stomach cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138507	TCF25	transcription factor 25	gene	DOID:1115	sarcoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138507	TCF25	transcription factor 25	gene	DOID:1324	lung cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138507	TCF25	transcription factor 25	gene	DOID:1909	melanoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138507	TCF25	transcription factor 25	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:3070	high grade glioma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12138507	TCF25	transcription factor 25	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:4362	cervical cancer		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138507	TCF25	transcription factor 25	gene	DOID:5041	esophageal cancer		ISO	RGD:1602223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138507	TCF25	transcription factor 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138507	TCF25	transcription factor 25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138507	TCF25	transcription factor 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138507	TCF25	transcription factor 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138534	TSPAN12	tetraspanin 12	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	PMID:25250762|PMID:25741868
12138534	TSPAN12	tetraspanin 12	gene	DOID:0060844	Norrie disease		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Atrophia bulborum hereditaria	PMID:25250762|PMID:25741868
12138534	TSPAN12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:7240710	20180130	OMIM			
12138534	TSPAN12	tetraspanin 12	gene	DOID:0111408	exudative vitreoretinopathy 5		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EXUDATIVE VITREORETINOPATHY 5 | ClinVar Annotator: match by term: Exudative vitreoretinopathy 5 | ClinVar Annotator: match by term: TSPAN12-related condition	PMID:20159111|PMID:20159112|PMID:21334594|PMID:21552475|PMID:22427576|PMID:25250762|PMID:25352738|PMID:25741868|PMID:28002565|PMID:28492532|PMID:28494495|PMID:31106028|PMID:31987760|PMID:33907885|PMID:34738848|PMID:34828430|PMID:36729443
12138534	TSPAN12	tetraspanin 12	gene	DOID:5679	retinal disease		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:26244290|PMID:28492532|PMID:30452590|PMID:33090715|PMID:33907885|PMID:35876299
12138534	TSPAN12	tetraspanin 12	gene	DOID:5723	optic atrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12138534	TSPAN12	tetraspanin 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138534	TSPAN12	tetraspanin 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322379	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138534	TSPAN12	tetraspanin 12	gene	DOID:630	genetic disease		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12138534	TSPAN12	tetraspanin 12	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322379	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:20159112|PMID:21334594|PMID:25741868|PMID:27316669|PMID:28492532|PMID:9536098
12138534	TSPAN12	tetraspanin 12	gene	DOID:9002174	Disease Susceptibility		ISO	RGD:1322379	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20130021
12138534	TSPAN12	tetraspanin 12	gene	DOID:9005204	Persistent Hyperplastic Primary Vitreous, Autosomal Recessive		ISO	RGD:1322379	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous, autosomal recessive	PMID:25250762|PMID:25741868
12138534	TSPAN12	tetraspanin 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138550	MIR381	microRNA mir-381	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2325521	D	RGD:9068941	20200609	RGD		RNA:decreased expression:spinal cord	PMID:30142543|REF_RGD_ID:13838658
12138550	MIR381	microRNA mir-381	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1346769	D	RGD:9068941	20200609	RGD			PMID:29287202|REF_RGD_ID:13464271
12138550	MIR381	microRNA mir-381	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1346769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12138550	MIR381	microRNA mir-381	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1346769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12138550	MIR381	microRNA mir-381	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2325521	D	RGD:9068941	20200609	RGD			PMID:30142543|REF_RGD_ID:13838658
12138550	MIR381	microRNA mir-381	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1346769	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0060058	lymphoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1351428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1558001	D	RGD:9068941	20220825	MouseDO			
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0090005	Schwartz-Jampel syndrome 1		ISO	RGD:1351428	D	RGD:7240710	20180704	OMIM			
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0090005	Schwartz-Jampel syndrome 1		ISO	RGD:1351428	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HSPG2-related condition | ClinVar Annotator: match by term: SCHWARTZ-JAMPEL SYNDROME, TYPE 1 | ClinVar Annotator: match by term: SCHWARTZ-JAMPEL-ABERFELD SYNDROME | ClinVar Annotator: match by term: Schwartz Jampel syndrome type 1 | ClinVar Annotator: match by term: Schwartz-Jampel syndrome | ClinVar Annotator: match by term: Schwartz-Jampel syndrome type 1	PMID:11279527|PMID:16199547|PMID:16927315|PMID:20542149|PMID:23836246|PMID:24011702|PMID:24088041|PMID:25504735|PMID:25741868|PMID:26077850|PMID:26467025|PMID:26633545|PMID:27521129|PMID:27578148|PMID:28242392|PMID:28492532|PMID:29271572|PMID:29302074|PMID:30646882|PMID:31127727|PMID:38424183
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia		ISO	RGD:1351428	D	RGD:7240710	20180130	OMIM			
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:0090032	Silverman-Handmaker type dyssegmental dysplasia		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive HSPG2-related disorders | ClinVar Annotator: match by term: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE | ClinVar Annotator: match by term: Dyssegmental Dysplasia | ClinVar Annotator: match by term: Silverman-Handmaker type dyssegmental dysplasia	PMID:11279527|PMID:16199547|PMID:16927315|PMID:20542149|PMID:23836246|PMID:25741868|PMID:26467025|PMID:28242392|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:10348	blepharophimosis		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:27521129
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:10763	hypertension		ISO	RGD:621770	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:8225534|REF_RGD_ID:1624258
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:10907	microcephaly		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:11279527|PMID:16199547|PMID:16927315|PMID:20542149|PMID:23836246|PMID:25741868|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:1115	sarcoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:1324	lung cancer		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:13481	thanatophoric dysplasia		ISO	RGD:1558001	D	RGD:9068941	20220825	MouseDO		OMIM:187600 | OMIM:187601 | OMIM:273680	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:1909	melanoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHONDRODYSTROPHIC MYOTONIA | ClinVar Annotator: match by term: Myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities | ClinVar Annotator: match by term: Skeletal dysplasia	PMID:11279527|PMID:16199547|PMID:16927315|PMID:20542149|PMID:23836246|PMID:25741868|PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:1351428	D	RGD:9068941	20200609	RGD		Schwartz-Jampel syndrome, OMIM:255800;DNA:missense mutations, splice-site mutations	PMID:11101850|REF_RGD_ID:1624267
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:3275	thymoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:3407	carotid artery disease		ISO	RGD:1351428	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:carotid artery	PMID:16620836|REF_RGD_ID:1624254
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:4195	hyperglycemia		ISO	RGD:1351428	D	RGD:9068941	20200609	RGD		protein:decreased expression:endothelial cell	PMID:15056491|REF_RGD_ID:1624255
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351428	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:26467025|PMID:28492532|PMID:9536098
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:630	genetic disease		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:65	connective tissue disease		ISO	RGD:1351428	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:16927315|PMID:17576681|PMID:21228398|PMID:24088041|PMID:24781210|PMID:25504735|PMID:25741868|PMID:25803036|PMID:26467025|PMID:26633545|PMID:26934580|PMID:28492532|PMID:29271572|PMID:29970176|PMID:30646882|PMID:32231685|PMID:37784196|PMID:9536098
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:65	connective tissue disease		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:26467025|PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9004201	Ectopia Lentis		ISO	RGD:1351428	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ectopia lentis	PMID:25741868
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9005084	Kniest Like Dysplasia Lethal		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethal Kniest-like syndrome	PMID:11279527|PMID:16199547|PMID:16927315|PMID:17576681|PMID:20542149|PMID:23836246|PMID:25741868|PMID:25741881|PMID:26467025|PMID:28242392|PMID:28492532|PMID:34244600|PMID:34529350|PMID:34906502|PMID:9536098
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621770	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina	PMID:9068943|REF_RGD_ID:1624265
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1351428	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:27521129
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10545953
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9008993	Myotonia		ISO	RGD:1351428	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myotonia	PMID:25741868
12138581	HSPG2	heparan sulfate proteoglycan 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351428	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:26467025|PMID:28492532
12138683	ANGPT1	angiopoietin 1	gene	DOID:0050741	alcohol dependence		ISO	RGD:733136	D	RGD:9068941	20240502	RGD		associated with other drug dependencies; DNA:SNPs:CDS:intron (rs10090742)	PMID:27151647|REF_RGD_ID:405650603
12138683	ANGPT1	angiopoietin 1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:733136	D	RGD:9068941	20220811	RGD		protein:decreased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
12138683	ANGPT1	angiopoietin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138683	ANGPT1	angiopoietin 1	gene	DOID:0051061	stroke		ISO	RGD:628896	D	RGD:9068941	20200609	RGD			PMID:11822892|PMID:17356562|REF_RGD_ID:1626162|REF_RGD_ID:704373
12138683	ANGPT1	angiopoietin 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:733136	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:11326698|REF_RGD_ID:1643336
12138683	ANGPT1	angiopoietin 1	gene	DOID:10534	stomach cancer		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138683	ANGPT1	angiopoietin 1	gene	DOID:10763	hypertension		ISO	RGD:733136	D	RGD:9068941	20200609	RGD			PMID:18285514|REF_RGD_ID:2316068
12138683	ANGPT1	angiopoietin 1	gene	DOID:10763	hypertension		ISO	RGD:733136	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma, platelet	PMID:16942942|REF_RGD_ID:1626157
12138683	ANGPT1	angiopoietin 1	gene	DOID:10808	gastric ulcer		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach	PMID:12768384|REF_RGD_ID:1601496
12138683	ANGPT1	angiopoietin 1	gene	DOID:1115	sarcoma		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138683	ANGPT1	angiopoietin 1	gene	DOID:2316	brain ischemia		ISO	RGD:733136	D	RGD:9068941	20200609	RGD			PMID:17637706|REF_RGD_ID:1643339
12138683	ANGPT1	angiopoietin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138683	ANGPT1	angiopoietin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733136	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary	PMID:12138242|REF_RGD_ID:2293864
12138683	ANGPT1	angiopoietin 1	gene	DOID:2527	nephrosis		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:glomerulus	PMID:16626513|REF_RGD_ID:1626164
12138683	ANGPT1	angiopoietin 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:733136	D	RGD:9068941	20200609	RGD			PMID:15517881|REF_RGD_ID:2293863
12138683	ANGPT1	angiopoietin 1	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:733136	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium epithelium	PMID:17295646|REF_RGD_ID:2293852
12138683	ANGPT1	angiopoietin 1	gene	DOID:4362	cervical cancer		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138683	ANGPT1	angiopoietin 1	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:733136	D	RGD:9068941	20200609	RGD		mRNA:altered expression:kidney	PMID:17505508|REF_RGD_ID:1643335
12138683	ANGPT1	angiopoietin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138683	ANGPT1	angiopoietin 1	gene	DOID:5844	myocardial infarction		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:myocardium	PMID:15364619|REF_RGD_ID:1626168
12138683	ANGPT1	angiopoietin 1	gene	DOID:630	genetic disease		ISO	RGD:733136	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12138683	ANGPT1	angiopoietin 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		protein:decreased expression:pulmonary artery	PMID:18073453|REF_RGD_ID:2316069
12138683	ANGPT1	angiopoietin 1	gene	DOID:8719	in situ carcinoma		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland	PMID:15459484|REF_RGD_ID:1626167
12138683	ANGPT1	angiopoietin 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:733136	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:12000720|REF_RGD_ID:2313818
12138683	ANGPT1	angiopoietin 1	gene	DOID:9000040	Hypertrophy		ISO	RGD:733136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18502941
12138683	ANGPT1	angiopoietin 1	gene	DOID:9000165	Neuromuscular Manifestations		ISO	RGD:733136	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12138683	ANGPT1	angiopoietin 1	gene	DOID:9000784	Fibrosis		ISO	RGD:733136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18480750|PMID:18626492
12138683	ANGPT1	angiopoietin 1	gene	DOID:9001573	Experimental Liver Cirrhosis	disease_progression	ISO	RGD:628896	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:17935226|REF_RGD_ID:1643338
12138683	ANGPT1	angiopoietin 1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:733136	D	RGD:9068941	20200609	RGD			PMID:18344375|REF_RGD_ID:2316067
12138683	ANGPT1	angiopoietin 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:733136	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12138683	ANGPT1	angiopoietin 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:733136	D	RGD:9068941	20200609	RGD			PMID:19885826|REF_RGD_ID:2316041
12138683	ANGPT1	angiopoietin 1	gene	DOID:9004484	Sepsis		ISO	RGD:733136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16005988
12138683	ANGPT1	angiopoietin 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Animal;mRNA:increased expression:mammary gland	PMID:15459484|REF_RGD_ID:1626167
12138683	ANGPT1	angiopoietin 1	gene	DOID:9005372	Inflammation		ISO	RGD:733136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18480750
12138683	ANGPT1	angiopoietin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628896	D	RGD:9068941	20200609	RGD			PMID:17294737|REF_RGD_ID:1626163
12138683	ANGPT1	angiopoietin 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628896	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:15047628|REF_RGD_ID:2313817
12138683	ANGPT1	angiopoietin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138683	ANGPT1	angiopoietin 1	gene	DOID:9007361	Hereditary Angioedema 5		ISO	RGD:733136	D	RGD:7240710	20210616	OMIM			
12138683	ANGPT1	angiopoietin 1	gene	DOID:9007361	Hereditary Angioedema 5		ISO	RGD:733136	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ANGPT1-related condition | ClinVar Annotator: match by term: Angioedema, hereditary, 5	PMID:25741868|PMID:28492532|PMID:28601681|PMID:30689269
12138683	ANGPT1	angiopoietin 1	gene	DOID:9007402	Gliosis		ISO	RGD:733136	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:30476904
12138683	ANGPT1	angiopoietin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138683	ANGPT1	angiopoietin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:10534	stomach cancer		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:1324	lung cancer		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:1909	melanoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:3275	thymoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733690	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138702	ESYT1	extended synaptotagmin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138733	BPIFC	BPI fold containing family C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138733	BPIFC	BPI fold containing family C	gene	DOID:5041	esophageal cancer		ISO	RGD:1323273	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138733	BPIFC	BPI fold containing family C	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:0060058	lymphoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:0070014	autosomal dominant dyskeratosis congenita 1		ISO	RGD:68560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 1	PMID:15849264|PMID:21931702|PMID:25741868
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:1059	intellectual disability		ISO	RGD:68560	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:1115	sarcoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:1324	lung cancer		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:1909	melanoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:2513	basal cell carcinoma		ISO	RGD:68560	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:3275	thymoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138769	INPP4A	inositol polyphosphate-4-phosphatase type I A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68560	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:0050553	proteasome-associated autoinflammatory syndrome 1		ISO	RGD:731895	D	RGD:7240710	20180130	OMIM			
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:0050553	proteasome-associated autoinflammatory syndrome 1		ISO	RGD:731895	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nakajo-Nishimura syndrome | ClinVar Annotator: match by term: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 | ClinVar Annotator: match by term: PSMB8-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1	PMID:21129723|PMID:21953331|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:0060913	proteosome-associated autoinflammatory syndrome		ISO	RGD:731895	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteosome-associated autoinflammatory syndrome	PMID:16199547|PMID:17576681|PMID:21129723|PMID:21953331|PMID:23768303|PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532|PMID:28895430|PMID:9536098
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:0080600	COVID-19		ISO	RGD:731895	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:1115	sarcoma		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:2935	Chediak-Higashi syndrome		ISO	RGD:731895	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Autoinflammatory syndrome	PMID:24033266|PMID:25741868|PMID:26524591|PMID:28492532
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:630	genetic disease		ISO	RGD:731895	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma | ClinVar Annotator: match by term: LIVER CELL CARCINOMA	PMID:24033266|PMID:25741868|PMID:28492532
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9001174	Nakajo Syndrome		ISO	RGD:731895	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nakajo syndrome	PMID:21129723|PMID:21953331|PMID:25741868|PMID:26524591|PMID:28492532
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731895	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731895	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138819	PSMB8	proteasome 20S subunit beta 8	gene	DOID:9563	bronchiectasis		ISO	RGD:731895	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:25741868
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731254	D	RGD:9068941	20200609	RGD			PMID:19760337|REF_RGD_ID:13801191
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735249	D	RGD:9068941	20200609	RGD			PMID:19760337|REF_RGD_ID:13801191
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:1115	sarcoma		ISO	RGD:735249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:9004001	Facial Nerve Injuries		ISO	RGD:3155	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:8875451|REF_RGD_ID:2302319
12138835	NDUFA5	NADH:ubiquinone oxidoreductase subunit A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:731281	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:1909	melanoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:3275	thymoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:731281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21750348
12138844	PHLPP1	PH domain and leucine rich repeat protein phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:68578	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12138865	HSF2	heat shock transcription factor 2	gene	DOID:1115	sarcoma		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:1826	epilepsy		ISO	RGD:68578	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:3275	thymoma		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138865	HSF2	heat shock transcription factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68578	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:0051032	primary autosomal recessive microcephaly 21		ISO	RGD:1604840	D	RGD:7240710	20190315	OMIM			
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:0051032	primary autosomal recessive microcephaly 21		ISO	RGD:1604840	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Microcephaly 21, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD2-related condition | ClinVar Annotator: match by term: microcephaly 21, primary, autosomal recessive	PMID:25741868|PMID:28492532
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:10534	stomach cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:1324	lung cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:1909	melanoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:3275	thymoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:4362	cervical cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:630	genetic disease		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138882	NCAPD2	non-SMC condensin I complex subunit D2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:1909	melanoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:3275	thymoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1604192	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138923	LPCAT4	lysophosphatidylcholine acyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604192	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312888	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:0080711	multisystem inflammatory syndrome in children		ISO	RGD:1312888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multisystem inflammatory syndrome in children	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:10534	stomach cancer		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:3275	thymoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138942	TRIM69	tripartite motif containing 69	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312888	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1352615	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33171190
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625222
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352615	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:0060058	lymphoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1115	sarcoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542527
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:12466	secondary hyperparathyroidism	treatment	ISO	RGD:631345	D	RGD:9068941	20200609	RGD			PMID:27988213|REF_RGD_ID:13450940
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:13189	gout		ISO	RGD:1352615	D	RGD:7240710	20181003	OMIM			
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:13189	gout		ISO	RGD:1352615	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:13189	gout	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:SNP:exon:rs2231142(human)	PMID:19506252|REF_RGD_ID:13439747
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:13250	diarrhea		ISO	RGD:1352615	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32387182
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:1551496	D	RGD:9068941	20220825	MouseDO		OMIM:177000 | OMIM:300752	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1612	breast cancer		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1824	status epilepticus		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte	PMID:16190927|REF_RGD_ID:2315587
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1909	melanoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1920	hyperuricemia		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21821808
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:1920	hyperuricemia		ISO	RGD:1551496	D	RGD:9068941	20220825	MouseDO			
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast	PMID:11948115|REF_RGD_ID:2315568
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:3602	toxic encephalopathy	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		associated with Precursor Cell Lymphoblastic Leukemia-Lymphoma;DNA:SNP: :421C>A(human)	PMID:17938643|REF_RGD_ID:11081146
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:4450	renal cell carcinoma	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.Q141K (human)	PMID:15906349|REF_RGD_ID:2315569
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1352615	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20019844
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1352615	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:657	adenoma		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21544799
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352615	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:707	B-cell lymphoma	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs6857600(human)	PMID:21918980|REF_RGD_ID:11080977
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:8552	chronic myeloid leukemia	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :C>A421(human)	PMID:26250462|REF_RGD_ID:11081180
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:SNP: :421C>A(human)	PMID:24581936|REF_RGD_ID:11081178
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:haplotype:cds: p.Q141K,p.V12M,(rs2231142),(rs2725252)(human)	PMID:24123600|REF_RGD_ID:11081181
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:863	nervous system disease		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1352615	D	RGD:9068941	20200609	RGD			PMID:21640380|REF_RGD_ID:11081147
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia	susceptibility	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :rs1481012,rs2231142(human)	PMID:21918980|REF_RGD_ID:11080977
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:small intestine	PMID:19152228|REF_RGD_ID:2315573
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, altered localization:small intestine	PMID:18451542|REF_RGD_ID:2315580
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22767648
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:17915193|REF_RGD_ID:2315584
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352615	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136|PMID:32387182
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21544799|PMID:22294766
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9008691	Liver Injury		ISO	RGD:631345	D	RGD:9068941	20200609	RGD			PMID:12819005|REF_RGD_ID:1304394
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10930538
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD			PMID:26512967|REF_RGD_ID:11081145
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD			PMID:12145683|REF_RGD_ID:11099971
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:28679589|REF_RGD_ID:13439745
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:631345	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:25152023|REF_RGD_ID:14700811
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD			PMID:16917002|PMID:26314844|REF_RGD_ID:11081075|REF_RGD_ID:11081144
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1352615	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mononuclear cell:	PMID:12100141|REF_RGD_ID:11081143
12138962	ABCG2	ATP binding cassette subfamily G member 2	gene	DOID:9952	acute lymphoblastic leukemia	disease_progression	ISO	RGD:1352615	D	RGD:9068941	20200609	RGD			PMID:15521915|REF_RGD_ID:11081076
12138982	ADAM21	ADAM metallopeptidase domain 21	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138982	ADAM21	ADAM metallopeptidase domain 21	gene	DOID:1115	sarcoma		ISO	RGD:1314846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12138982	ADAM21	ADAM metallopeptidase domain 21	gene	DOID:1909	melanoma		ISO	RGD:1314846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12138982	ADAM21	ADAM metallopeptidase domain 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:10534	stomach cancer		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:4362	cervical cancer		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12138991	CSNK1G3	casein kinase 1 gamma 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:7240710	20180130	OMIM			
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:10564830|PMID:12118255|PMID:12524598|PMID:12567324|PMID:12677556|PMID:12837689|PMID:12872256|PMID:12920096|PMID:15314642|PMID:15666242|PMID:15770229|PMID:16199547|PMID:16327777|PMID:16582908|PMID:16877420|PMID:17003356|PMID:17065520|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:18669544|PMID:18766993|PMID:19797195|PMID:19858128|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21052717|PMID:21258341|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23432027|PMID:23559858|PMID:23565731|PMID:23571587|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24400638|PMID:24611592|PMID:24746959|PMID:25074776|PMID:25170860|PMID:25326635|PMID:25525159|PMID:25741868|PMID:25780760|PMID:25982971|PMID:25988237|PMID:26022370|PMID:26261414|PMID:26325558|PMID:26467025|PMID:26518167|PMID:26566502|PMID:26872967|PMID:27032803|PMID:27260402|PMID:27434533|PMID:27624628|PMID:27659767|PMID:27788217|PMID:27884173|PMID:27894351|PMID:28041643|PMID:28143435|PMID:28224992|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29191167|PMID:29264490|PMID:29588463|PMID:29974258|PMID:30076350|PMID:30142598|PMID:30259503|PMID:30337596|PMID:30484961|PMID:30609409|PMID:30614526|PMID:30718709|PMID:31028937|PMID:31130284|PMID:31196119|PMID:31213501|PMID:31328266|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31534736|PMID:31589614|PMID:31836858|PMID:3196484|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32037395|PMID:32165824|PMID:32349990|PMID:32451492|PMID:32483926|PMID:32531858|PMID:32552793|PMID:32581362|PMID:32949114|PMID:33015405|PMID:33169370|PMID:33369054|PMID:33532864|PMID:33594065|PMID:33749171|PMID:33851411|PMID:33910932|PMID:34327195|PMID:34426522|PMID:34448047|PMID:34526762|PMID:34716235|PMID:34732400|PMID:34758253|PMID:34792930|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35055178|PMID:35112343|PMID:35119454|PMID:35314707|PMID:35456422|PMID:35481623|PMID:35692835|PMID:35695966|PMID:35835773|PMID:35886001|PMID:36460718|PMID:36474027|PMID:36819107|PMID:36909829|PMID:39618083|PMID:9343467|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BBS1-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 1 | ClinVar Annotator: match by term: Bardet-Biedl syndrome type 1	PMID:12118255|PMID:12677556|PMID:12872256|PMID:15770229|PMID:16199547|PMID:17576681|PMID:17980398|PMID:19797195|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:20981092|PMID:21052717|PMID:21344540|PMID:21520335|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22995991|PMID:23559858|PMID:24033266|PMID:24611592|PMID:25525159|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27659767|PMID:28143435|PMID:28492532|PMID:28559085|PMID:29588463|PMID:31196119|PMID:31456290|PMID:31534736|PMID:31964843|PMID:32037395|PMID:32531858|PMID:32949114|PMID:33046855|PMID:33749171|PMID:34426522|PMID:34526762|PMID:34758253|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35055178|PMID:35481623|PMID:35886001|PMID:36460718|PMID:37734845|PMID:38927698|PMID:39462066|PMID:39533427|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:26261414|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:28041643|PMID:28143435|PMID:28492532|PMID:29264490|PMID:29588463|PMID:30614526|PMID:30718709|PMID:33532864|PMID:34526762|PMID:34906470|PMID:36474027|PMID:36909829|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:15314642|PMID:15770229|PMID:16327777|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18669544|PMID:18766993|PMID:20120035|PMID:20177705|PMID:20301537|PMID:20498079|PMID:21052717|PMID:21344540|PMID:21517826|PMID:21520335|PMID:21642631|PMID:22410627|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22998390|PMID:23143442|PMID:23565731|PMID:23847139|PMID:23943788|PMID:24033266|PMID:24746959|PMID:25326635|PMID:25741868|PMID:25982971|PMID:26022370|PMID:26261414|PMID:26325558|PMID:26467025|PMID:26872967|PMID:27032803|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28559085|PMID:28838317|PMID:29264490|PMID:29588463|PMID:29974258|PMID:30142598|PMID:30337596|PMID:30484961|PMID:30609409|PMID:30614526|PMID:30718709|PMID:31028937|PMID:31370859|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32581362|PMID:33015405|PMID:33169370|PMID:33369054|PMID:33532864|PMID:33749171|PMID:33851411|PMID:33910932|PMID:34327195|PMID:34426522|PMID:34448047|PMID:34526762|PMID:34716235|PMID:34732400|PMID:34758253|PMID:34792930|PMID:34906171|PMID:34906470|PMID:34940782|PMID:35112343|PMID:35119454|PMID:35456422|PMID:35695966|PMID:35835773|PMID:35886001|PMID:36460718|PMID:36474027|PMID:36819107|PMID:36909829|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:12118255|PMID:15770229|PMID:17576681|PMID:20120035|PMID:20177705|PMID:21344540|PMID:21520335|PMID:22773737|PMID:25741868|PMID:26261414|PMID:27032803|PMID:28041643|PMID:28143435|PMID:28492532|PMID:31456290|PMID:31964843|PMID:32531858|PMID:33749171|PMID:34426522|PMID:34758253|PMID:34906470|PMID:34940782|PMID:35886001|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:1115	sarcoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:1143	exotropia		ISO	RGD:1316858	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: concomitant exotropia	PMID:25741868|PMID:28492532
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:15770229|PMID:17980398|PMID:20981092|PMID:21344540|PMID:22995991|PMID:25741868|PMID:28492532
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:16199547|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:19763152|PMID:19797195|PMID:20177705|PMID:20307669|PMID:20498079|PMID:21052717|PMID:21520335|PMID:22406018|PMID:22581970|PMID:22773737|PMID:22940089|PMID:23143442|PMID:23432027|PMID:23559858|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26082521|PMID:27032803|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29099798|PMID:29588463|PMID:30614526|PMID:31196119|PMID:31589614|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32531858|PMID:33169370|PMID:35835773|PMID:35886001|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1316858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl Syndrome | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:12118255|PMID:12524598|PMID:12677556|PMID:12837689|PMID:12920096|PMID:15314642|PMID:15770229|PMID:16199547|PMID:17576681|PMID:17980398|PMID:18032602|PMID:18327255|PMID:19763152|PMID:19797195|PMID:20177705|PMID:20307669|PMID:20498079|PMID:20981092|PMID:21052717|PMID:21344540|PMID:21520335|PMID:22406018|PMID:22581970|PMID:22773737|PMID:22940089|PMID:22995991|PMID:23143442|PMID:23432027|PMID:23559858|PMID:24611592|PMID:24746959|PMID:25170860|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26082521|PMID:27032803|PMID:27486776|PMID:27894351|PMID:28492532|PMID:29099798|PMID:30614526|PMID:31196119|PMID:31589614|PMID:31964843|PMID:31980526|PMID:31997113|PMID:32531858|PMID:33169370|PMID:35835773|PMID:35886001|PMID:9536098
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1316859	D	RGD:9068941	20230420	RGD			PMID:33722691|REF_RGD_ID:243065268
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:630	genetic disease		ISO	RGD:1316858	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316858	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12118255|PMID:21520335|PMID:25741868|PMID:27032803|PMID:28492532|PMID:31196119|PMID:32451492|PMID:3646071
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity		ISO	RGD:1316859	D	RGD:9068941	20260618	MouseDO		OMIM:601665	
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity		ISO	RGD:1316859	D	RGD:9068941	20260618	RGD			PMID:33722691|REF_RGD_ID:243065268
12139055	BBS1	Bardet-Biedl syndrome 1	gene	DOID:9970	obesity	no_association	ISO	RGD:1316858	D	RGD:9068941	20200609	RGD		DNA:mutation: :p.M390R (human)	PMID:14993910|REF_RGD_ID:1601314
12139080	SYVN1	synoviolin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139080	SYVN1	synoviolin 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139080	SYVN1	synoviolin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:10892	hypospadias		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139080	SYVN1	synoviolin 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:1324	lung cancer		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139080	SYVN1	synoviolin 1	gene	DOID:1826	epilepsy		ISO	RGD:1603603	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:2034	encephalomalacia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:3275	thymoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139080	SYVN1	synoviolin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12139080	SYVN1	synoviolin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139080	SYVN1	synoviolin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139080	SYVN1	synoviolin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139080	SYVN1	synoviolin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12139080	SYVN1	synoviolin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139080	SYVN1	synoviolin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603603	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139110	ABHD14B	abhydrolase domain containing 14B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139110	ABHD14B	abhydrolase domain containing 14B	gene	DOID:1115	sarcoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139110	ABHD14B	abhydrolase domain containing 14B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139110	ABHD14B	abhydrolase domain containing 14B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:0050860	colorectal adenoma		ISO	RGD:1345581	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1345581	D	RGD:9068941	20200609	RGD			PMID:21122381|REF_RGD_ID:13217408
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:1107	esophageal carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:esophagus (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345581	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:2526	prostate adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNALincreased expression:prostate gland (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:breast (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:stomach (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:3948	adrenocortical carcinoma	ameliorates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:adrenal gland (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:3963	thyroid gland carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:thyroid gland (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:4006	bladder urothelial carcinoma	disease_progression	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:urinary bladder (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:4074	pancreatic adenocarcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:pancreas (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1345581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17437058|PMID:25401301
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:6039	uveal melanoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:uvea (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1345581	D	RGD:9068941	20220818	RGD		mRNA:increased expression:liver (human)	PMID:31964418|REF_RGD_ID:153344516
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:7474	malignant pleural mesothelioma	ameliorates	ISO	RGD:1345581	D	RGD:9068941	20220825	RGD		mRNA:increased expression:pleura, lung (human)	PMID:17253596|REF_RGD_ID:153344528
12139118	BIRC7	baculoviral IAP repeat containing 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139130	THAP4	THAP domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139130	THAP4	THAP domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139130	THAP4	THAP domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139130	THAP4	THAP domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139130	THAP4	THAP domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139130	THAP4	THAP domain containing 4	gene	DOID:3070	high grade glioma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12139130	THAP4	THAP domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139130	THAP4	THAP domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:3275	thymoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139139	SLC49A3	solute carrier family 49 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604571	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:736986	D	RGD:7240710	20180130	OMIM			
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 2 | ClinVar Annotator: match by term: NPHS2-related condition | ClinVar Annotator: match by term: Nephrotic syndrome, steroid-resistant, autosomal recessive | ClinVar Annotator: match by term: Nephrotic syndrome, type 2 | ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:10742096|PMID:11729243|PMID:11733557|PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:12608558|PMID:12707396|PMID:12776285|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15059485|PMID:1523708|PMID:15253708|PMID:15264208|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15780077|PMID:15817495|PMID:15954915|PMID:15968559|PMID:16199547|PMID:16286890|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17576681|PMID:17699384|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18380020|PMID:18443213|PMID:18499321|PMID:18596732|PMID:18683072|PMID:18726620|PMID:18823551|PMID:19067903|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21636722|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:23013956|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24033266|PMID:24072147|PMID:24227627|PMID:24509478|PMID:24511133|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25060053|PMID:25143137|PMID:25349199|PMID:25525159|PMID:25599733|PMID:25720465|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26467726|PMID:26820844|PMID:27885584|PMID:28117080|PMID:28204945|PMID:28385484|PMID:28476686|PMID:28492532|PMID:28529802|PMID:28566477|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29127259|PMID:29382718|PMID:29474669|PMID:29660491|PMID:29663071|PMID:29869118|PMID:30013592|PMID:30076350|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30609409|PMID:30655312|PMID:30721404|PMID:31027891|PMID:31328266|PMID:31738409|PMID:31831576|PMID:32129207|PMID:32467597|PMID:32581362|PMID:32604935|PMID:33193607|PMID:33532864|PMID:33980730|PMID:34405919|PMID:34631609|PMID:34853150|PMID:35755072|PMID:35990031|PMID:36239278|PMID:36245711|PMID:37204080|PMID:37915894|PMID:38765578|PMID:40225918|PMID:9536098
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic nephrotic syndrome	PMID:10742096|PMID:11729243|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15322893|PMID:15327385|PMID:17899208|PMID:18216321|PMID:19674119|PMID:20001346|PMID:23595123|PMID:25349199|PMID:25741868|PMID:25903641|PMID:28204945|PMID:28492532
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:736986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:14978175|PMID:25741868|PMID:28492532
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:0111365	benign familial hematuria		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:10742096|PMID:11729243|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15322893|PMID:15327385|PMID:18216321|PMID:19674119|PMID:20001346|PMID:23595123|PMID:25349199|PMID:25741868|PMID:25903641|PMID:28204945|PMID:28492532
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:10534	stomach cancer		ISO	RGD:736986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:620461	D	RGD:9068941	20200609	RGD			PMID:15882266|REF_RGD_ID:1598706
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:10742096|PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:14701729|PMID:15253708|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29127259|PMID:29660491|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:1184	nephrotic syndrome	treatment	ISO	RGD:620461	D	RGD:9068941	20200609	RGD			PMID:15942045|REF_RGD_ID:1598707
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:736986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:12707396|PMID:14978175|PMID:15253708|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29660491|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:30450462|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32691731|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:2527	nephrosis		ISO	RGD:736986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15684566
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:2590	familial nephrotic syndrome		ISO	RGD:736986	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Congenital nephrotic syndrome | ClinVar Annotator: match by term: Hereditary nephrotic syndrome	PMID:10742096|PMID:11729243|PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:12649741|PMID:12707396|PMID:12776285|PMID:14570703|PMID:14675423|PMID:14701729|PMID:14978175|PMID:15042551|PMID:15253708|PMID:15322893|PMID:15327385|PMID:15496146|PMID:15769810|PMID:15954915|PMID:15968559|PMID:16286890|PMID:16481888|PMID:16721582|PMID:16810518|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18443213|PMID:18499321|PMID:18683072|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19371226|PMID:19406966|PMID:19520069|PMID:19674119|PMID:19812541|PMID:20001346|PMID:20333530|PMID:20507940|PMID:20798252|PMID:20947785|PMID:21171529|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22565185|PMID:22578956|PMID:23242530|PMID:23349334|PMID:23515051|PMID:23595123|PMID:23645318|PMID:23800802|PMID:23913389|PMID:24033266|PMID:24089165|PMID:24227627|PMID:24413855|PMID:24500309|PMID:24509478|PMID:24715228|PMID:24742477|PMID:24856380|PMID:24969201|PMID:25349199|PMID:25573908|PMID:25599733|PMID:25741868|PMID:25852895|PMID:25903641|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:26594346|PMID:27885584|PMID:28204945|PMID:28385484|PMID:28492532|PMID:28529802|PMID:28658201|PMID:28712774|PMID:28780565|PMID:29049388|PMID:29127259|PMID:29382718|PMID:29869118|PMID:29982877|PMID:30241959|PMID:30260545|PMID:30295827|PMID:30348286|PMID:30450462|PMID:30609409|PMID:30655312|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:32581362|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:8589695
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:2590	familial nephrotic syndrome		ISO	RGD:736986	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary nephrotic syndrome	PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:14978175|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29660491|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:557	kidney disease		ISO	RGD:736986	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:15954915|PMID:25741868|PMID:26467025|PMID:28492532
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:576	proteinuria		ISO	RGD:736986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:14675423|PMID:14978175|PMID:15253708|PMID:15264208|PMID:15327385|PMID:15504144|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24596097|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29660491|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:630	genetic disease		ISO	RGD:736986	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11805166|PMID:11854170|PMID:12446471|PMID:12464671|PMID:15327385|PMID:15954915|PMID:16481888|PMID:16900088|PMID:17371932|PMID:17899208|PMID:17942957|PMID:18216321|PMID:18499321|PMID:18823551|PMID:19145239|PMID:19268410|PMID:19520069|PMID:20798252|PMID:20947785|PMID:21355056|PMID:21415313|PMID:21722858|PMID:22228437|PMID:22578956|PMID:23349334|PMID:23515051|PMID:23645318|PMID:23800802|PMID:24227627|PMID:24509478|PMID:24715228|PMID:24969201|PMID:25349199|PMID:25599733|PMID:25741868|PMID:26138234|PMID:26211502|PMID:26413278|PMID:26420286|PMID:26467025|PMID:28492532|PMID:28529802|PMID:29660491|PMID:29869118|PMID:30241959|PMID:30260545|PMID:30348286|PMID:31027891|PMID:31738409|PMID:32129207|PMID:32467597|PMID:33193607|PMID:33532864|PMID:34405919|PMID:34853150|PMID:36349777
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:9000373	Muscle Cramp		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:10742096|PMID:11729243|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15322893|PMID:15327385|PMID:18216321|PMID:19674119|PMID:20001346|PMID:23595123|PMID:25349199|PMID:25741868|PMID:25903641|PMID:28204945|PMID:28492532
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:9001542	Albuminuria		ISO	RGD:736986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15684566
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:9004797	Fetal Nutrition Disorders		ISO	RGD:620461	D	RGD:9068941	20230202	RGD		associated with maternal low protein diet; protein:decreased expression:kidney (rat)	PMID:23977013|REF_RGD_ID:155882570
12139165	NPHS2	NPHS2 stomatin family member, podocin	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:736986	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10742096|PMID:11729243|PMID:14701729|PMID:14978175|PMID:15253708|PMID:15322893|PMID:15327385|PMID:18216321|PMID:19674119|PMID:20001346|PMID:23595123|PMID:25349199|PMID:25741868|PMID:25903641|PMID:28204945|PMID:28492532
12139188	TMEM207	transmembrane protein 207	gene	DOID:1324	lung cancer		ISO	RGD:1602436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139188	TMEM207	transmembrane protein 207	gene	DOID:2433	epidermal appendage tumor		ISO	RGD:2299488	D	RGD:9068941	20240425	MouseDO			
12139188	TMEM207	transmembrane protein 207	gene	DOID:5041	esophageal cancer		ISO	RGD:1602436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139197	FOXL1	forkhead box L1	gene	DOID:0060928	otosclerosis 11		ISO	RGD:1353210	D	RGD:7240710	20231115	OMIM			
12139197	FOXL1	forkhead box L1	gene	DOID:0060928	otosclerosis 11		ISO	RGD:1353210	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: OTOSCLEROSIS 11	PMID:30311386|PMID:34633540|PMID:35885890
12139241	LOC609748	10 kDa heat shock protein, mitochondrial	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733544	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12967636
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:733133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:1561	cognitive disorder		ISO	RGD:733133	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: marker/mechanism	PMID:36155068
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:733133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733133	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:8466	retinal degeneration		ISO	RGD:3836	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12139249	PHLDA1	pleckstrin homology like domain family A member 1	gene	DOID:9004745	RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES		ISO	RGD:3836	D	RGD:9068941	20230525	RGD		associated with hyperaldosterone; mRNA:decreased expression:retina (rat)	PMID:29713904|REF_RGD_ID:152025547
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0081334	Nestor-Guillermo progeria syndrome		ISO	RGD:1342836	D	RGD:7240710	20180130	OMIM			
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:0081334	Nestor-Guillermo progeria syndrome		ISO	RGD:1342836	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NESTOR-GUILLERMO PROGERIA SYNDROME | ClinVar Annotator: match by term: Nestor-Guillermo progeria syndrome	PMID:23720404
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342836	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (human)	PMID:29059470|REF_RGD_ID:155791679
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620662	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (rat)	PMID:29059470|REF_RGD_ID:155791679
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:732240	D	RGD:9068941	20230105	RGD			PMID:29059470|REF_RGD_ID:155791679
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139254	BANF1	barrier to autointegration nuclear assembly factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:1324	lung cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:3275	thymoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:4362	cervical cancer		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350890	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350890	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350890	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139261	RAB21	RAB21, member RAS oncogene family	gene	DOID:9970	obesity		ISO	RGD:1350890	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807
12139285	AUNIP	aurora kinase A and ninein interacting protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139285	AUNIP	aurora kinase A and ninein interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:1601974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139285	AUNIP	aurora kinase A and ninein interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139285	AUNIP	aurora kinase A and ninein interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139412	COMMD8	COMM domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139412	COMMD8	COMM domain containing 8	gene	DOID:0060305	megalocornea		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Megalocornea	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:10892	hypospadias		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:1324	lung cancer		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139412	COMMD8	COMM domain containing 8	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:1909	melanoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139412	COMMD8	COMM domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1313413	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139412	COMMD8	COMM domain containing 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139412	COMMD8	COMM domain containing 8	gene	DOID:9001031	Retrognathia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9001510	Funnel Chest		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9003133	Hypertelorism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9005616	Micrognathism		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12139412	COMMD8	COMM domain containing 8	gene	DOID:930	orbital disease		ISO	RGD:1313413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
12139421	MLH1	mutL homolog 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:31207149
12139421	MLH1	mutL homolog 1	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:733729	D	RGD:7240710	20180130	OMIM			
12139421	MLH1	mutL homolog 1	gene	DOID:0050465	Muir-Torre syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutaneous sebaceous neoplasms and keratoacanthomas multiple with gastrointestinal and other carcinomas | ClinVar Annotator: match by term: Muir-Torré syndrome	PMID:08808596|PMID:10037723|PMID:10534773|PMID:11112663|PMID:11151427|PMID:11555625|PMID:11601928|PMID:11793442|PMID:12173039|PMID:12362047|PMID:12810663|PMID:14514376|PMID:14635101|PMID:15300854|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16142001|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16885385|PMID:16995940|PMID:17210669|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18561205|PMID:18566915|PMID:18809606|PMID:18931482|PMID:18990764|PMID:19250818|PMID:19339519|PMID:19669161|PMID:19731080|PMID:19863800|PMID:20223024|PMID:20533529|PMID:20858721|PMID:21056691|PMID:21120944|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21642682|PMID:21952876|PMID:22086678|PMID:22290698|PMID:22854115|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23523604|PMID:23760103|PMID:24033266|PMID:24278394|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24802709|PMID:24903654|PMID:25085752|PMID:25111426|PMID:25186627|PMID:25318351|PMID:25479140|PMID:25559809|PMID:25617771|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:27064304|PMID:27295708|PMID:27363726|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28528518|PMID:28765196|PMID:28874130|PMID:29151953|PMID:29345684|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29755676|PMID:29887214|PMID:30086788|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30998989|PMID:31054147|PMID:31207149|PMID:31273885|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31658756|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:32206572|PMID:32658311|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33558524|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34994648|PMID:35449176|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:37854294|PMID:38255924|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8880570|PMID:8993979|PMID:9536098|PMID:9559627|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12139421	MLH1	mutL homolog 1	gene	DOID:0060058	lymphoma		ISO	RGD:733729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15700306
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19360343|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22426235|PMID:22453149|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27449771|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32427313|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32678338|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33693762|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34178123|PMID:34404389|PMID:34545850|PMID:34680242|PMID:35014770|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10323887|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10995807|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11343035|PMID:11376800|PMID:11385712|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11870161|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655568|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919140|PMID:14512394|PMID:14514376|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15235038|PMID:15253764|PMID:15256438|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19360343|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19931546|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22136435|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23329266|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23544471|PMID:23588873|PMID:23640085|PMID:23695190
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24090359|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25712765|PMID:25741868|PMID:25782445|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26895986|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27498913|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27831900|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28643016|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29752822|PMID:29785566|PMID:29866690|PMID:29887214|PMID:30019097|PMID:30077346|PMID:30093976|PMID:30212499|PMID:30256826|PMID:30262796|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31248605|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31494577|PMID:31650731|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31830689|PMID:31857677|PMID:31881334|PMID:31942411|PMID:31948886|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32295079|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32678338|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32832836|PMID:32849802|PMID:33199489|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33693762|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34178123|PMID:34545850|PMID:34680242|PMID:35014770|PMID:35223509|PMID:35467778|PMID:36073783|PMID:36593122|PMID:36627197|PMID:36988593|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584997|PMID:7705822|PMID:7728749|PMID:7757073|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10037723|PMID:10199405|PMID:10200055|PMID:10375096|PMID:10413423|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10612827|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11112663|PMID:11306449|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11948175|PMID:12095971|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12386821|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12697830|PMID:12799449|PMID:12810663|PMID:14517962|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14871975|PMID:14970868|PMID:15099349|PMID:15300854|PMID:15345113|PMID:15475387|PMID:15555211|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16083711|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16830052|PMID:16885385|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17026620|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17370310|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17690979|PMID:18033691|PMID:18205192|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18726168|PMID:18772310|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19339519|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19698169|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20233461|PMID:20305446|PMID:20413677|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21286823|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22453149|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22854115|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23435383|PMID:23640085|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24096645|PMID:24278394|PMID:24333619|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25980754|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26333163|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:26888055|PMID:27064304|PMID:27150160|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27499925|PMID:27601186|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28195393|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28596308|PMID:28727142|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29175432|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29472279|PMID:29478780|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30850667|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31337882|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31642931|PMID:31658756|PMID:31697235|PMID:31725351|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31882575|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32457826|PMID:32459922|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32720330|PMID:32832836|PMID:32849802
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:32885271|PMID:32980694|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33383211|PMID:33468175|PMID:33471991|PMID:33558524|PMID:34039291|PMID:34133209|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34897210|PMID:34990208|PMID:34994648|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35680043|PMID:35886069|PMID:35892341|PMID:35932099|PMID:36054288|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36972026|PMID:37285865|PMID:37306523|PMID:37854294|PMID:38255924|PMID:38947473|PMID:40065011|PMID:661956|PMID:8574961|PMID:8592341|PMID:8776590|PMID:8797773|PMID:8880570|PMID:8993976|PMID:8993979|PMID:9322509|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9697702|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:10037723|PMID:10199405|PMID:10200055|PMID:10413423|PMID:10422993|PMID:10480359|PMID:10534773|PMID:10573010|PMID:10612827|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11112663|PMID:11304573|PMID:11306449|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11948175|PMID:12095971|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12386821|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12697830|PMID:12799449|PMID:12810663|PMID:14517962|PMID:14526391|PMID:14635101|PMID:14871975|PMID:14970868|PMID:15099349|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15555211|PMID:15713769|PMID:15849733|PMID:15872200|PMID:15942939|PMID:15943554|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16885385|PMID:16955466|PMID:16995940|PMID:17026620|PMID:17192056|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17690979|PMID:18033691|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18772310|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20233461|PMID:20305446|PMID:20413677|PMID:20533529|PMID:20587412|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21286823|PMID:21311894|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22453149|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22854115|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23435383|PMID:23523604|PMID:23640085|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24096645|PMID:24278394|PMID:24333619|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25892863|PMID:25980754|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:26888055|PMID:27064304|PMID:27150160|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27499925|PMID:27601186|PMID:27629256|PMID:27696107|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28596308|PMID:28643016|PMID:28727142|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29237405|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29478780|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31207149|PMID:31273885|PMID:31337882|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31642931|PMID:31658756|PMID:31697235|PMID:31725351|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31882575|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32457826|PMID:32547938|PMID:32658311
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33383211|PMID:33468175|PMID:33471991|PMID:33558524|PMID:34039291|PMID:34133209|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34897210|PMID:34990208|PMID:34994648|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35680043|PMID:35886069|PMID:35892341|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36972026|PMID:36988593|PMID:37285865|PMID:37854294|PMID:38255924|PMID:38947473|PMID:40065011|PMID:8571956|PMID:8574961|PMID:8776590|PMID:8797773|PMID:8880570|PMID:8993976|PMID:8993979|PMID:9322509|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9777949|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:08808596|PMID:10037723|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10413423|PMID:10422993|PMID:10480359|PMID:10534773|PMID:10573010|PMID:10612827|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11112663|PMID:11151427|PMID:11306449|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:12095971|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12373605|PMID:12386821|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12697830|PMID:12799449|PMID:12810663|PMID:14514376|PMID:14517962|PMID:14635101|PMID:14871975|PMID:14970868|PMID:15099349|PMID:15300854|PMID:15309712|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15555211|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16885385|PMID:16955466|PMID:16995940|PMID:17026620|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17690979|PMID:18033691|PMID:18307539|PMID:18383312|PMID:18415027|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18772310|PMID:18809606|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19072991|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19419416|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20413677|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22086678|PMID:22252508|PMID:22290698|PMID:22453149|PMID:22691310|PMID:22753075|PMID:22854115|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23435383|PMID:23523604|PMID:23640085|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24333619|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:26888055|PMID:27064304|PMID:27150160|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27499925|PMID:27535758|PMID:27601186|PMID:27629256|PMID:27696107|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28195393|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28596308|PMID:28643016|PMID:28727142|PMID:28765196|PMID:28828701|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29237405|PMID:29338689|PMID:29345684|PMID:29478780|PMID:29506128|PMID:29575718|PMID:29684080|PMID:29755676|PMID:29887214|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31207149|PMID:31273885|PMID:31337882|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31642931|PMID:31658756|PMID:31697235|PMID:31725351|PMID:31742824|PMID:31784484
12139421	MLH1	mutL homolog 1	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I | ClinVar Annotator: match by term: Lynch syndrome II	PMID:31822864|PMID:31857677|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32547938|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33309985|PMID:33383211|PMID:33468175|PMID:33471991|PMID:33558524|PMID:34039291|PMID:34133209|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34897210|PMID:34990208|PMID:34994648|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35680043|PMID:35886069|PMID:35892341|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36972026|PMID:36988593|PMID:37285865|PMID:37854294|PMID:38255924|PMID:38947473|PMID:40065011|PMID:8571956|PMID:8574961|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993976|PMID:8993979|PMID:9322509|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9777949|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:733729	D	RGD:7240710	20180130	OMIM			
12139421	MLH1	mutL homolog 1	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition	PMID:08808596|PMID:10037723|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10413423|PMID:10422993|PMID:10471527|PMID:10480359|PMID:10534773|PMID:10573010|PMID:10612827|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11112663|PMID:11151427|PMID:11306449|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11948175|PMID:12095971|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12386821|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12810663|PMID:14514376|PMID:14517962|PMID:14635101|PMID:14729822|PMID:14871975|PMID:14970868|PMID:15300854|PMID:15309712|PMID:15345113|PMID:15365995|PMID:15475387|PMID:15528792|PMID:15555211|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16636019|PMID:16736289|PMID:16807412|PMID:16837128|PMID:16885385|PMID:16955466|PMID:16982745|PMID:16995940|PMID:17026620|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17690979|PMID:18033691|PMID:18307539|PMID:18337503|PMID:18383312|PMID:18556772|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18772310|PMID:18809606|PMID:18931482|PMID:18990764|PMID:19072991|PMID:19117025|PMID:19142183|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19386570|PMID:19419416|PMID:19459153|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20459533|PMID:20533529|PMID:20858721|PMID:20864418|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22086678|PMID:22252508|PMID:22290698|PMID:22453149|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22854115|PMID:22878509|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23435383|PMID:23523604|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25077178|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25871441|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26315971|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26898890|PMID:27064304|PMID:27150160|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27499925|PMID:27535758|PMID:27601186|PMID:27629256|PMID:27696107|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28157215|PMID:28195393|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28643016|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28828701|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29237405|PMID:29338689|PMID:29345684|PMID:29472279|PMID:29478780|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29684080|PMID:29755676|PMID:29887214|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826
12139421	MLH1	mutL homolog 1	gene	DOID:0070274	hereditary nonpolyposis colorectal cancer type 2		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 | ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 2 | ClinVar Annotator: match by term: Lynch syndrome II | ClinVar Annotator: match by term: MLH1-related condition	PMID:30262796|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31159747|PMID:31207149|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31642931|PMID:31658756|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31857677|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32459922|PMID:32547938|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33084842|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33558524|PMID:33821390|PMID:34039291|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34897210|PMID:34994648|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35477782|PMID:35534704|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36988593|PMID:37509324|PMID:37854294|PMID:38255924|PMID:38843250|PMID:38947473|PMID:39546165|PMID:40065011|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8940269|PMID:8993976|PMID:8993979|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9697702|PMID:9777949|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome	PMID:08808596|PMID:10037723|PMID:10534773|PMID:11112663|PMID:11151427|PMID:11555625|PMID:11601928|PMID:11793442|PMID:12810663|PMID:14514376|PMID:14635101|PMID:15300854|PMID:15345113|PMID:15475387|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16142001|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16885385|PMID:16995940|PMID:17210669|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18561205|PMID:18809606|PMID:18931482|PMID:19250818|PMID:19339519|PMID:19669161|PMID:19731080|PMID:19863800|PMID:20223024|PMID:20533529|PMID:20858721|PMID:21056691|PMID:21120944|PMID:21387278|PMID:21598002|PMID:21615986|PMID:21952876|PMID:22086678|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23523604|PMID:23760103|PMID:24033266|PMID:24278394|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24903654|PMID:25085752|PMID:25111426|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25617771|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:27064304|PMID:27363726|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28765196|PMID:28874130|PMID:29345684|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29755676|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:31054147|PMID:31207149|PMID:31273885|PMID:31360874|PMID:31391288|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:32658311|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33558524|PMID:34250417|PMID:34284872|PMID:34326862|PMID:35449176|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:37854294|PMID:8776590|PMID:8808596|PMID:8880570|PMID:8993979|PMID:9536098|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:10534	stomach cancer		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:14871975|PMID:15300854|PMID:15309712|PMID:16341550|PMID:16451135|PMID:17453009|PMID:17569143|PMID:17576681|PMID:18561205|PMID:19690142|PMID:20233461|PMID:21034533|PMID:21311894|PMID:21681552|PMID:22886683|PMID:23760103|PMID:24333619|PMID:24362816|PMID:25430799|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:27435373|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30521064|PMID:36988593|PMID:8571956|PMID:9536098|PMID:9777949
12139421	MLH1	mutL homolog 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:733729	D	RGD:9068941	20200609	RGD			PMID:15296997|REF_RGD_ID:2293518
12139421	MLH1	mutL homolog 1	gene	DOID:11830	myopia		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:1324	lung cancer		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139421	MLH1	mutL homolog 1	gene	DOID:1324	lung cancer	no_association	ISO	RGD:733729	D	RGD:9068941	20210430	RGD		DNA:SNP: :9452A>T (rs1540354) (human)	PMID:21093954|REF_RGD_ID:126848792
12139421	MLH1	mutL homolog 1	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:733729	D	RGD:9068941	20210507	RGD		DNA:SNP: :rs1800734 (human)	PMID:25252909|REF_RGD_ID:126848798
12139421	MLH1	mutL homolog 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:10495924|PMID:11555625|PMID:11781295|PMID:11948175|PMID:12386821|PMID:12547705|PMID:14517962|PMID:14699485|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15926618|PMID:16083711|PMID:16995940|PMID:17135187|PMID:17210669|PMID:17312306|PMID:17510385|PMID:18205192|PMID:18561205|PMID:19419416|PMID:19698169|PMID:20020535|PMID:20587412|PMID:20682701|PMID:20864636|PMID:21120944|PMID:21404117|PMID:21952876|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22949379|PMID:24033266|PMID:24362816|PMID:25085752|PMID:25741868|PMID:26247049|PMID:26467025|PMID:28445943|PMID:28492532|PMID:28514183|PMID:31386297|PMID:31391288|PMID:31697235|PMID:32206572|PMID:32720330|PMID:32980694|PMID:33471991|PMID:34284872|PMID:35101336|PMID:36054288
12139421	MLH1	mutL homolog 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:733729	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:14517962|PMID:15713769|PMID:16083711|PMID:21120944|PMID:24362816|PMID:25741868|PMID:28492532|PMID:28514183|PMID:31386297|PMID:32206572|PMID:32980694|PMID:33471991|PMID:34284872|PMID:35101336|PMID:36054288
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728327|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30274973|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:8521398|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29755653|PMID:29887214|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9845760
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10082584|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10573010|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10882759|PMID:11112663|PMID:11139242|PMID:11304573|PMID:11524701|PMID:11555625|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12070261|PMID:12173039|PMID:12183410|PMID:12362047|PMID:12362848|PMID:12386821|PMID:12414623|PMID:12419761|PMID:12513688|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12799449|PMID:12810663|PMID:14504054|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14762794|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15870828|PMID:15926618|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16636019|PMID:16830052|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17054581|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17312306|PMID:17453009|PMID:17473388|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18726168|PMID:18772310|PMID:18931482|PMID:19072991|PMID:19224586|PMID:19267393|PMID:19419416|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:20007843|PMID:20020535|PMID:20045164|PMID:20176959|PMID:20223024|PMID:20233461|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20864636|PMID:20937110|PMID:21120944|PMID:21155023|PMID:21239990|PMID:21286667|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21681552|PMID:21901500|PMID:21952876|PMID:22136435|PMID:22290698|PMID:22480969|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23741719|PMID:23752102|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24292105|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24933000|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25338684|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26096739|PMID:26247049|PMID:26248088|PMID:26300997|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26557847|PMID:26659639|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27064304|PMID:27093186|PMID:27152634|PMID:27173243|PMID:27295708|PMID:27363726|PMID:27435373|PMID:27487738|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27831900|PMID:28135145|PMID:28445943|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29288294|PMID:29345684|PMID:29472279|PMID:29505604|PMID:29752822|PMID:29755653|PMID:29887214|PMID:30013564|PMID:30077346|PMID:30212499|PMID:30322717|PMID:30376427|PMID:30504929|PMID:30521064|PMID:30850667|PMID:31118792|PMID:31273614|PMID:31273885|PMID:31386297|PMID:31391288|PMID:31494577|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31815095|PMID:31857677|PMID:31882575|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32809219|PMID:32849802|PMID:32885271|PMID:33199489|PMID:33303966|PMID:34221829|PMID:34504932|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8776590|PMID:8797773|PMID:9071575|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9419403|PMID:9536098|PMID:9559627
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:9611074|PMID:9697702|PMID:9845760
12139421	MLH1	mutL homolog 1	gene	DOID:1520	colon carcinoma		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:12067992|PMID:12362047|PMID:12537657|PMID:12555990|PMID:12655568|PMID:15365995|PMID:15475387|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16338176|PMID:18566915|PMID:18931482|PMID:19072991|PMID:20864636|PMID:21404117|PMID:22854115|PMID:24362816|PMID:24802709|PMID:25525159|PMID:25741868|PMID:25871441|PMID:26248088|PMID:26333163|PMID:27295708|PMID:27363726|PMID:28135145|PMID:28492532|PMID:28514183|PMID:28944238|PMID:29151953|PMID:30212499|PMID:31857677|PMID:32885271|PMID:33199489|PMID:36054288|PMID:8797773|PMID:9559627
12139421	MLH1	mutL homolog 1	gene	DOID:1596	depressive disorder		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:1612	breast cancer		ISO	RGD:733729	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35467778|PMID:36054288|PMID:9506527|PMID:9718327
12139421	MLH1	mutL homolog 1	gene	DOID:1612	breast cancer		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10446963|PMID:10713887|PMID:11606497|PMID:11726306|PMID:11839723|PMID:11920650|PMID:12095971|PMID:15520370|PMID:15943554|PMID:16203774|PMID:16395668|PMID:17011982|PMID:17117178|PMID:17453009|PMID:17510385|PMID:18033691|PMID:18325052|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18809606|PMID:19117025|PMID:19224586|PMID:20373145|PMID:21404117|PMID:21671475|PMID:21681552|PMID:22252508|PMID:22703879|PMID:22736432|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23573243|PMID:24033266|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:26467025|PMID:26580448|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27498913|PMID:27601186|PMID:28466842|PMID:28492532|PMID:28767289|PMID:28874130|PMID:29520894|PMID:29684080|PMID:30504929|PMID:30998989|PMID:31332305|PMID:31391288|PMID:31784484|PMID:32659497|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35467778|PMID:36054288|PMID:9506527|PMID:9718327
12139421	MLH1	mutL homolog 1	gene	DOID:1612	breast cancer		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast | ClinVar Annotator: match by term: breast cancer	PMID:16142001|PMID:17576681|PMID:19250818|PMID:20858721|PMID:23523604|PMID:25741868|PMID:26247049|PMID:26580448|PMID:26845104|PMID:27363726|PMID:28466842|PMID:28492532|PMID:28874130|PMID:29684080|PMID:9536098
12139421	MLH1	mutL homolog 1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12139421	MLH1	mutL homolog 1	gene	DOID:1791	peritoneal carcinoma		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary peritoneal carcinoma	PMID:25741868
12139421	MLH1	mutL homolog 1	gene	DOID:1924	hypogonadism		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:2030	anxiety disorder		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:219	colon cancer		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon Cancer | ClinVar Annotator: match by term: Colon cancer | ClinVar Annotator: match by term: colon cancer	PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:14514376|PMID:14635101|PMID:14871975|PMID:14970868|PMID:15300854|PMID:15475387|PMID:15713769|PMID:15849733|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17026620|PMID:17576681|PMID:18307539|PMID:18561205|PMID:18809606|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:20305446|PMID:21387278|PMID:21598002|PMID:21642682|PMID:22086678|PMID:22252508|PMID:24278394|PMID:24362816|PMID:24456667|PMID:25085752|PMID:25420488|PMID:25741868|PMID:25871441|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26517685|PMID:26681312|PMID:26845104|PMID:26895986|PMID:27329137|PMID:27978560|PMID:28449805|PMID:28492532|PMID:28765196|PMID:28874130|PMID:29212164|PMID:29506128|PMID:29755676|PMID:30072391|PMID:30702970|PMID:30723297|PMID:31391288|PMID:32980694|PMID:33471991|PMID:35313100|PMID:35449176|PMID:36054288|PMID:8808596|PMID:8993976|PMID:9536098
12139421	MLH1	mutL homolog 1	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:733729	D	RGD:9068941	20210430	RGD			PMID:28411881|REF_RGD_ID:126790577
12139421	MLH1	mutL homolog 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:14514376|PMID:14635101|PMID:15849733|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17576681|PMID:18561205|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:21387278|PMID:21598002|PMID:24278394|PMID:24456667|PMID:25085752|PMID:25741868|PMID:26300997|PMID:26467025|PMID:26681312|PMID:28492532|PMID:29506128|PMID:8808596|PMID:9536098
12139421	MLH1	mutL homolog 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:33471991|PMID:34172528
12139421	MLH1	mutL homolog 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer | ClinVar Annotator: match by term: Ovarian cancer	PMID:22216297|PMID:23047549|PMID:23573243|PMID:24033266|PMID:25085752|PMID:25637381|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:32068069|PMID:32255556|PMID:32566746|PMID:32658311|PMID:33471991|PMID:34172528
12139421	MLH1	mutL homolog 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:23047549|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26096739|PMID:26467025|PMID:27363726|PMID:28492532|PMID:30086788|PMID:30267214|PMID:30324682|PMID:30770470|PMID:31159747|PMID:31391288|PMID:32849802|PMID:33471991|PMID:34172528|PMID:34326862
12139421	MLH1	mutL homolog 1	gene	DOID:2841	asthma		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:26467025|PMID:26580448|PMID:27363726|PMID:28492532|PMID:31822864|PMID:35449176|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10323887|PMID:12362047|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14635101|PMID:14871975|PMID:15300854|PMID:15309712|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15955785|PMID:16341550|PMID:16451135|PMID:16955466|PMID:17199584|PMID:17453009|PMID:1756143|PMID:17569143|PMID:17576681|PMID:18561205|PMID:18566915|PMID:19690142|PMID:20233461|PMID:20459533|PMID:21034533|PMID:21311894|PMID:21598002|PMID:21681552|PMID:22691310|PMID:22886683|PMID:23695190|PMID:23760103|PMID:24323032|PMID:24333619|PMID:24362816|PMID:25430799|PMID:25741868|PMID:25892863|PMID:25980754|PMID:26053027|PMID:26248088|PMID:26300997|PMID:26437257|PMID:26467025|PMID:26681312|PMID:27435373|PMID:27535758|PMID:27601186|PMID:27696107|PMID:28127413|PMID:28492532|PMID:28643016|PMID:29212164|PMID:29237405|PMID:29887214|PMID:30256826|PMID:30521064|PMID:33468175|PMID:36988593|PMID:8571956|PMID:8872463|PMID:9322509|PMID:9536098|PMID:9777949
12139421	MLH1	mutL homolog 1	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:733729	D	RGD:9068941	20210430	RGD		mRNA:decreased expression:larynx	PMID:23787767|REF_RGD_ID:126848783
12139421	MLH1	mutL homolog 1	gene	DOID:3459	breast carcinoma		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:10573010|PMID:15475387|PMID:16083711|PMID:17510385|PMID:18383312|PMID:18809606|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:22086678|PMID:23047549|PMID:23403630|PMID:24033266|PMID:24549055|PMID:25637381|PMID:25741868|PMID:25871441|PMID:26333163|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28643016|PMID:28765196|PMID:29755676|PMID:30267214|PMID:30324682|PMID:31391288|PMID:32980694|PMID:33471991|PMID:36054288
12139421	MLH1	mutL homolog 1	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:733729	D	RGD:9068941	20210430	RGD		DNA, protein:hypermethylation, decreased expression:promoter, esophagus	PMID:21674174|REF_RGD_ID:126790574
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9482749|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23712482|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31101557|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32941469|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:4063166|PMID:5713769|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35884469|PMID:36054288|PMID:36073783|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35475445|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32165824|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36454741|PMID:36988593|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:2615136|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:4063166|PMID:6083711|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31649038
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12891553|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16423994|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:38311346|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:38311346|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:38311346|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35713195|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36139606|PMID:36243179|PMID:36454741|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:37664053|PMID:37894291|PMID:38311346|PMID:38439815|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34711244|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35713195|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36139606|PMID:36243179|PMID:36356413|PMID:36437392|PMID:36454741|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:37664053|PMID:37854294|PMID:37894291|PMID:38311346|PMID:38439815|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26694549|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34711244|PMID:34712484|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35713195|PMID:35884469|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36139606|PMID:36243179|PMID:36356413|PMID:36437392|PMID:36454741|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37433431|PMID:37664053|PMID:37854294|PMID:37894291|PMID:38311346|PMID:38439815|PMID:39548353|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25944380|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34897210|PMID:34916366|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36988593|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38439815|PMID:38558366|PMID:39004446|PMID:39548353|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38439815|PMID:38558366|PMID:39004446|PMID:39548353|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25197397|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32030746|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38439815|PMID:38558366|PMID:38641238|PMID:39004446|PMID:39109916|PMID:39546165|PMID:39548353|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28596308|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32019277|PMID:32030746|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32553509|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38439815|PMID:38558366|PMID:38641238|PMID:39004446|PMID:39109916|PMID:39546165|PMID:39548353|PMID:4063166|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19173287|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21712435|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28596308|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29069792|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31958074|PMID:31997046|PMID:32019277|PMID:32030746|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32553509|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33647816|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37323311|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38350919|PMID:38439815|PMID:38558366|PMID:38641238|PMID:38843250|PMID:39004446|PMID:39109916|PMID:39546165|PMID:39548353|PMID:4063166|PMID:4830045|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19120036|PMID:19130300|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28349240|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28596308|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29069792|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29783979|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29909963|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31958074|PMID:31997046|PMID:32019277|PMID:32030746|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32553509|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33647816|PMID:33672345|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34712484|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37323311|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38350919|PMID:38439815|PMID:38558366|PMID:38641238|PMID:38843250|PMID:39004446|PMID:39109916|PMID:39546165|PMID:39548353|PMID:4063166|PMID:4830045|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7705822|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9845760|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11369138|PMID:11376800|PMID:1138090|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11879922|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15289847|PMID:15300854|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15507669|PMID:15528792|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15786548|PMID:15842942|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991306|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17690979|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18709565|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19120036|PMID:19130300|PMID:19142183
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19224586|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20052760|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20640893|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21233718|PMID:21239990|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22120844|PMID:22136435|PMID:22160601|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22453149|PMID:22480969|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23640085|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:2429210|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26517685|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26648449|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:27064304|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27499925|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27899187|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28334867|PMID:28349240|PMID:28439008|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28669579|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29175432|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:29442399|PMID:29472279|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29783979|PMID:29866690|PMID:29887214|PMID:29909963|PMID:30013564|PMID:30019097|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30787465|PMID:30803214|PMID:30829280|PMID:30850667|PMID:30877237|PMID:30917047|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31491536|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32363481|PMID:32457826|PMID:32459922|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32587781|PMID:32620519|PMID:32634176|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32720330|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33047316|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33436027|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33647816|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34301788|PMID:34308366|PMID:34326862|PMID:34504932|PMID:34680242|PMID:34712484|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35101336|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35713195|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36454741|PMID:36624813|PMID:36988593|PMID:37057674|PMID:37306523|PMID:37323311|PMID:37554185|PMID:37854294|PMID:37894291|PMID:37919876|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38255924|PMID:38350919|PMID:38947473|PMID:39032648|PMID:40065011|PMID:4063166|PMID:661956|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7705822|PMID:7757073|PMID:8128251|PMID:8145827|PMID:8198129|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9536098|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9831355|PMID:9833759|PMID:9886275|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11369138|PMID:11376800|PMID:1138090|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11879922|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15528792|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991306|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17690979|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19015241
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19047842|PMID:19072991|PMID:19130300|PMID:19142183|PMID:19224586|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20052760|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20640893|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21233718|PMID:21239990|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22120844|PMID:22136435|PMID:22160601|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22453149|PMID:22480969|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:2429210|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26517685|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26648449|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27499925|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27629256|PMID:27899187|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28334867|PMID:28349240|PMID:28439008|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28669579|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:29151953|PMID:29175432|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29783979|PMID:29866690|PMID:29887214|PMID:29909963|PMID:30013564|PMID:30019097|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30787465|PMID:30803214|PMID:30829280|PMID:30850667|PMID:30877237|PMID:30917047|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31207149|PMID:31273885|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31491536|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32363481|PMID:32457826|PMID:32459922|PMID:32547938|PMID:32549215|PMID:32587781|PMID:32620519|PMID:32634176|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32720330|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33047316|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33436027|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33647816|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34301788|PMID:34308366|PMID:34326862|PMID:34504932|PMID:34519692|PMID:34680242|PMID:34712484|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35101336|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35713195|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36454741|PMID:36624813|PMID:36988593|PMID:37057674|PMID:37323311|PMID:37554185|PMID:37854294|PMID:37894291|PMID:37919876|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38255924|PMID:38350919|PMID:38522067|PMID:38947473|PMID:39032648|PMID:40065011|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7757073|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9886275|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10612827|PMID:10660333|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11369138|PMID:11376800|PMID:1138090|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11879922|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15099349|PMID:15139004|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15528792|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15786548|PMID:15842942|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991306|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17690979|PMID:17889038|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19047842|PMID:19072991|PMID:19130300|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20640893|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22120844|PMID:22136435|PMID:22160601|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22453149|PMID:22480969|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23640085|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25782445|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26517685|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26648449|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:27064304|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27499925|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27899187|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28334867|PMID:28349240|PMID:28439008|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28643016|PMID:28669579|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29442399|PMID:29472279|PMID:29478780
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29783979|PMID:29866690|PMID:29887214|PMID:29909963|PMID:30013564|PMID:30019097|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30787465|PMID:30803214|PMID:30829280|PMID:30877237|PMID:30917047|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31207149|PMID:31273885|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31491536|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31881334|PMID:31882575|PMID:31948886|PMID:32019277|PMID:32030746|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32363481|PMID:32457826|PMID:32459922|PMID:32547938|PMID:32549215|PMID:32587781|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32720330|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33047316|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33436027|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33647816|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34301788|PMID:34308366|PMID:34326862|PMID:34504932|PMID:34680242|PMID:34712484|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35648447|PMID:35694191|PMID:35713195|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36454741|PMID:36624813|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37323311|PMID:37554185|PMID:37854294|PMID:37894291|PMID:37919876|PMID:37965459|PMID:38003003|PMID:38255924|PMID:38522067|PMID:38947473|PMID:39032648|PMID:40065011|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7757073|PMID:7903889|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10612827|PMID:10660333|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11260232|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11369138|PMID:11376800|PMID:1138090|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11857745|PMID:11879922|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12402334|PMID:12414824|PMID:12419761|PMID:12494471|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12624159|PMID:12655562|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919140|PMID:12938096|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14699485|PMID:14728922|PMID:14729822|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15139004|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15483016|PMID:15528792|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15949572|PMID:15955785|PMID:15991306|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16136382|PMID:16142001|PMID:16143124|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16521201|PMID:16528605|PMID:16528606|PMID:16541406|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16817031|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16941473|PMID:16955466|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17228328|PMID:17267619|PMID:17312306|PMID:17370310|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17582678|PMID:17594722|PMID:17653898|PMID:17690979|PMID:17889038|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18307539|PMID:18325052|PMID:18330910|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18543228|PMID:18547406|PMID:18556772|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19117025
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:19130300|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19575290|PMID:19621678|PMID:19669161|PMID:19672700|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19763152|PMID:19863800|PMID:19930554|PMID:19931546|PMID:20007843|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20307669|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20640893|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21233718|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21348412|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21788563|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22120844|PMID:22136435|PMID:22160601|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22406018|PMID:22453149|PMID:22480969|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22843852|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24733792|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24933100|PMID:24953332|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25851949|PMID:25871441|PMID:25877891|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26185136|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26350204|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26517685|PMID:26557847|PMID:26580448|PMID:26637282|PMID:26648449|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:27064304|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27499925|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27899187|PMID:27978560|PMID:28127413|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28334867|PMID:28349240|PMID:28439008|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28643016|PMID:28669579|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289
12139421	MLH1	mutL homolog 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29338689|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29783979|PMID:29785566|PMID:29866690|PMID:29887214|PMID:29909963|PMID:30013564|PMID:30019097|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30614234|PMID:30719162|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30787465|PMID:30803214|PMID:30829280|PMID:30877237|PMID:30917047|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31207149|PMID:31273885|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31491536|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31881334|PMID:31948886|PMID:32019277|PMID:32030746|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32363481|PMID:32459922|PMID:32547938|PMID:32549215|PMID:32587781|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32719484|PMID:32720330|PMID:32741062|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32941469|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33047316|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33259954|PMID:33281875|PMID:33294277|PMID:33309985|PMID:33436027|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33630411|PMID:33647816|PMID:33693762|PMID:33746161|PMID:33768299|PMID:33809179|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34301788|PMID:34308366|PMID:34326862|PMID:34504932|PMID:34598035|PMID:34680242|PMID:34712484|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35171259|PMID:35220195|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35648447|PMID:35694191|PMID:35713195|PMID:35884469|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36454741|PMID:36624813|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37270516|PMID:37323311|PMID:37433431|PMID:37554185|PMID:37854294|PMID:37894291|PMID:37919876|PMID:37937776|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38255924|PMID:38350919|PMID:38522067|PMID:38947473|PMID:39032648|PMID:40065011|PMID:7557107|PMID:7584969|PMID:7584997|PMID:7585065|PMID:7704024|PMID:7757073|PMID:7903889|PMID:8128251|PMID:8145827|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8751876|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9071575|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9886275|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:3905	lung carcinoma		ISO	RGD:620937	D	RGD:9068941	20200609	RGD			PMID:21530494|REF_RGD_ID:10045659
12139421	MLH1	mutL homolog 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733729	D	RGD:9068941	20210430	RGD			PMID:32211850|REF_RGD_ID:126848780
12139421	MLH1	mutL homolog 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:733729	D	RGD:9068941	20210507	RGD			PMID:18370958|REF_RGD_ID:126848801
12139421	MLH1	mutL homolog 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12139421	MLH1	mutL homolog 1	gene	DOID:4362	cervical cancer		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139421	MLH1	mutL homolog 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:16426918|REF_RGD_ID:2293509
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28090092|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32255556|PMID:32295079|PMID:32566746|PMID:32710294|PMID:32832836|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10495924|PMID:10573010|PMID:10709098|PMID:11342971|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11781295|PMID:11839723|PMID:11920458|PMID:11948175|PMID:12362047|PMID:12419761|PMID:12810663|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15342696|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15955785|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:20176959|PMID:20223024|PMID:21056691|PMID:21155023|PMID:21239990|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23573243|PMID:23695190|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24323032|PMID:24362816|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24933000|PMID:25115387|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27732944|PMID:27831900|PMID:28449805|PMID:28492532|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29505604|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30623411|PMID:30850667|PMID:30982232|PMID:31118792|PMID:31127692|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:32068069|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8581513|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:33309985|PMID:33471991|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12362047|PMID:12377806|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29575718|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:35475445|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33821390|PMID:34250417|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14688830|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17117178|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:19117025|PMID:19224586|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25338684|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26249686|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25338684|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25338684|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25338684|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:29050249
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:36356413|PMID:36531003|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25338684|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:36054288|PMID:36243179|PMID:36356413|PMID:36531003|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12173039|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25157968|PMID:25186627|PMID:25338684|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35713195|PMID:36054288|PMID:36243179|PMID:36356413|PMID:36531003|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12173039|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25186627|PMID:25338684|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28822769|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35713195|PMID:36054288|PMID:36243179|PMID:36356413|PMID:36531003|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12173039|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25186627|PMID:25338684|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25801821|PMID:25871441|PMID:25882375|PMID:25944380|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30309722|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30623411|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33326660|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35713195|PMID:35884425|PMID:36054288|PMID:36117189|PMID:36243179|PMID:36356413|PMID:36531003|PMID:39004446|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12173039|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25115387|PMID:25133505|PMID:25186627|PMID:25338684|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25801821|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237|PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:32068069|PMID:32081490|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33326660|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35713195|PMID:35884425|PMID:36054288|PMID:36117189|PMID:36243179|PMID:36356413|PMID:36531003|PMID:36896836|PMID:37854294|PMID:39004446|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10446963|PMID:10448273|PMID:10495924|PMID:10573010|PMID:10601588|PMID:10612827|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10956410|PMID:11015456|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11427529|PMID:11524701|PMID:11555625|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12070261|PMID:12095971|PMID:12173039|PMID:12362047|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12513688|PMID:12547705|PMID:12624141|PMID:12655568|PMID:12810663|PMID:14512394|PMID:14514376|PMID:14635101|PMID:14688830|PMID:15099349|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15342696|PMID:15365995|PMID:15475387|PMID:15520370|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15996210|PMID:16083711|PMID:16203774|PMID:16216036|PMID:16338176|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16685411|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17370310|PMID:17417778|PMID:17453009|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17889038|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18325052|PMID:18373977|PMID:18383312|PMID:18415027|PMID:18518984|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18792805|PMID:18931482|PMID:18990764|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19504447|PMID:19526325|PMID:19665066|PMID:19669161|PMID:19690142|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21642682|PMID:21665242|PMID:21671475|PMID:21681552|PMID:21868491|PMID:21901500|PMID:22136435|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22691310|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22843852|PMID:22875147|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23523604|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24323032|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25115387|PMID:25133505|PMID:25186627|PMID:25338684|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25801821|PMID:25871441|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26580448|PMID:26637282|PMID:26659599|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27093186|PMID:27153395|PMID:27173243|PMID:27300758|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27487738|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27732944|PMID:27831900|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28495237
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:28514183|PMID:28526081|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29050249|PMID:29069792|PMID:29192238|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29845239|PMID:29887214|PMID:30093976|PMID:30262796|PMID:30267214|PMID:30306255|PMID:30504929|PMID:30521064|PMID:30578687|PMID:30850667|PMID:30982232|PMID:30998989|PMID:31068090|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31867841|PMID:31882575|PMID:31958074|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32206572|PMID:32255556|PMID:32295079|PMID:32363481|PMID:32459922|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32980694|PMID:33181636|PMID:33309985|PMID:33326660|PMID:33468175|PMID:33471991|PMID:33821390|PMID:34172528|PMID:34250417|PMID:34326862|PMID:34519692|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35713195|PMID:35884425|PMID:35884469|PMID:36054288|PMID:36117189|PMID:36243179|PMID:36356413|PMID:36531003|PMID:36896836|PMID:37854294|PMID:39004446|PMID:7757073|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8797773|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993976|PMID:9052445|PMID:9071575|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10413423|PMID:10612827|PMID:10956410|PMID:11726306|PMID:12173039|PMID:12386821|PMID:12810663|PMID:15184898|PMID:15345113|PMID:15864295|PMID:15996210|PMID:16963262|PMID:16995940|PMID:17192056|PMID:17510385|PMID:18373977|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18990764|PMID:20978114|PMID:21064154|PMID:21153778|PMID:21404117|PMID:21520333|PMID:22136435|PMID:22290698|PMID:22753075|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23760103|PMID:24033266|PMID:24362816|PMID:24549055|PMID:24689082|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25980754|PMID:26248088|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26888055|PMID:27363726|PMID:27601186|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28591715|PMID:29050249|PMID:29192238|PMID:29472279|PMID:30267214|PMID:30306255|PMID:30720243|PMID:30850667|PMID:30998989|PMID:31273614|PMID:31273885|PMID:31386297|PMID:31784484|PMID:31882575|PMID:32206572|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:34326862|PMID:35264596|PMID:35449176|PMID:36243179|PMID:36290365|PMID:36896836|PMID:37306523|PMID:7757073|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10413423|PMID:10612827|PMID:10956410|PMID:11726306|PMID:12173039|PMID:12386821|PMID:12810663|PMID:15184898|PMID:15345113|PMID:15864295|PMID:15996210|PMID:16963262|PMID:16995940|PMID:17192056|PMID:17510385|PMID:18373977|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18726168|PMID:18990764|PMID:20978114|PMID:21064154|PMID:21153778|PMID:21404117|PMID:21520333|PMID:22136435|PMID:22290698|PMID:22753075|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23760103|PMID:24033266|PMID:24362816|PMID:24549055|PMID:24689082|PMID:25186627|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25980754|PMID:26248088|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26888055|PMID:27363726|PMID:27601186|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28591715|PMID:29050249|PMID:29192238|PMID:29472279|PMID:30267214|PMID:30306255|PMID:30720243|PMID:30850667|PMID:30998989|PMID:31273614|PMID:31273885|PMID:31386297|PMID:31784484|PMID:31882575|PMID:32206572|PMID:32547938|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:34326862|PMID:35264596|PMID:35449176|PMID:36243179|PMID:36290365|PMID:7757073|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10037723|PMID:10413423|PMID:10612827|PMID:10956410|PMID:11304573|PMID:11342971|PMID:11555625|PMID:11781295|PMID:11920458|PMID:11948175|PMID:12173039|PMID:12386821|PMID:12810663|PMID:15184898|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15613555|PMID:15864295|PMID:16425354|PMID:16995940|PMID:17192056|PMID:17510385|PMID:17594722|PMID:18069769|PMID:18094436|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18561205|PMID:18990764|PMID:19419416|PMID:20176959|PMID:20978114|PMID:21064154|PMID:21153778|PMID:21155023|PMID:21404117|PMID:21520333|PMID:21901500|PMID:22136435|PMID:22290698|PMID:22703879|PMID:22753075|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23729658|PMID:23760103|PMID:24033266|PMID:24362816|PMID:24549055|PMID:24933000|PMID:25186627|PMID:25338684|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26248088|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26761715|PMID:27093186|PMID:27173243|PMID:27363726|PMID:27487738|PMID:27553368|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28591715|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29505604|PMID:29752822|PMID:30267214|PMID:30306255|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30850667|PMID:30998989|PMID:31273885|PMID:31386297|PMID:31470354|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31882575|PMID:32206572|PMID:32547938|PMID:32601921|PMID:32719484|PMID:32720330|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:34326862|PMID:35171259|PMID:35264596|PMID:35449176|PMID:36243179|PMID:36290365|PMID:7757073|PMID:8581513|PMID:8797773|PMID:9419403|PMID:9611074|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:08808596|PMID:10037723|PMID:10323887|PMID:10413423|PMID:10612827|PMID:10956410|PMID:11112663|PMID:11151427|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11920458|PMID:12173039|PMID:12362047|PMID:12386821|PMID:12810663|PMID:14514376|PMID:14635101|PMID:15184898|PMID:15342696|PMID:15345113|PMID:15613555|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15864295|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15955785|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16955466|PMID:16995940|PMID:17192056|PMID:17199584|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:18069769|PMID:18094436|PMID:18373977|PMID:18383312|PMID:18561205|PMID:18566915|PMID:18931482|PMID:18990764|PMID:19669161|PMID:19731080|PMID:20176959|PMID:20223024|PMID:20459533|PMID:20978114|PMID:21064154|PMID:21153778|PMID:21155023|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21598002|PMID:21901500|PMID:22136435|PMID:22290698|PMID:22691310|PMID:22753075|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23695190|PMID:23729658|PMID:23760103|PMID:24278394|PMID:24323032|PMID:24362816|PMID:24456667|PMID:24549055|PMID:24933000|PMID:25085752|PMID:25186627|PMID:25338684|PMID:25637381|PMID:25741868|PMID:25882375|PMID:25980754|PMID:26053027|PMID:26248088|PMID:26300997|PMID:26332594|PMID:26467025|PMID:26510091|PMID:26580448|PMID:26681312|PMID:27093186|PMID:27173243|PMID:27363726|PMID:27487738|PMID:27535758|PMID:27553368|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28591715|PMID:28767289|PMID:29050249|PMID:29192238|PMID:29505604|PMID:29506128|PMID:29752822|PMID:30267214|PMID:30306255|PMID:30521064|PMID:30720243|PMID:30850667|PMID:30998989|PMID:31273885|PMID:31386297|PMID:31666926|PMID:31784484|PMID:32206572|PMID:32547938|PMID:32601921|PMID:32719484|PMID:32720330|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33468175|PMID:33471991|PMID:34326862|PMID:35264596|PMID:35449176|PMID:36243179|PMID:36290365|PMID:7757073|PMID:8571956|PMID:8581513|PMID:8797773|PMID:8808596|PMID:8872463|PMID:9322509|PMID:9419403|PMID:9536098|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139421	MLH1	mutL homolog 1	gene	DOID:7474	malignant pleural mesothelioma	disease_progression	ISO	RGD:733729	D	RGD:9068941	20210507	RGD			PMID:23810210|REF_RGD_ID:126848799
12139421	MLH1	mutL homolog 1	gene	DOID:8029	sporadic breast cancer		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, breast	PMID:12173039|REF_RGD_ID:2293522
12139421	MLH1	mutL homolog 1	gene	DOID:8778	Crohn's disease		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Crohn disease	PMID:14871975|PMID:14970868|PMID:15713769|PMID:17026620|PMID:18307539|PMID:20305446|PMID:24362816|PMID:25741868|PMID:26517685|PMID:27329137|PMID:28492532|PMID:28874130|PMID:8993976
12139421	MLH1	mutL homolog 1	gene	DOID:8991	cervix uteri carcinoma in situ		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
12139421	MLH1	mutL homolog 1	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:testis	PMID:16309235|REF_RGD_ID:2293510
12139421	MLH1	mutL homolog 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:733729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17717427
12139421	MLH1	mutL homolog 1	gene	DOID:9001030	Multiple Primary Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	RGD			PMID:8829664|REF_RGD_ID:1625108
12139421	MLH1	mutL homolog 1	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:733729	D	RGD:9068941	20210430	RGD		DNA:SNP:p.V384D (human)	PMID:25561800|REF_RGD_ID:126790576
12139421	MLH1	mutL homolog 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15583422
12139421	MLH1	mutL homolog 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:16083711|PMID:17510385|PMID:20020535|PMID:20533529|PMID:21120944|PMID:21404117|PMID:23403630|PMID:25741868|PMID:27363726|PMID:28492532|PMID:28643016
12139421	MLH1	mutL homolog 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colonic neoplasm	PMID:32658311
12139421	MLH1	mutL homolog 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		protein:decreased expression:uterine cervix	PMID:15807307|REF_RGD_ID:2293515
12139421	MLH1	mutL homolog 1	gene	DOID:9003539	Hyperacusis		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:25741868|PMID:28492532|PMID:38255924
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:7240710	20201202	OMIM			
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27363726|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34250417|PMID:34347074|PMID:34408140|PMID:35223509|PMID:35263119|PMID:35449176|PMID:35467778|PMID:36054288|PMID:7757073|PMID:8808596|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10348818|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10861474|PMID:10874307|PMID:10923051|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11389087|PMID:11427529|PMID:11524701|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12362047|PMID:12377806|PMID:12519945|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17117178|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18383312|PMID:18389388|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21255554|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22180144|PMID:22252508|PMID:22290698|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25133505|PMID:25142776|PMID:25157968|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25823662|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27300552|PMID:27363726|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:30309722|PMID:30322717|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34408140|PMID:35223509|PMID:35263119|PMID:35449176|PMID:35467778|PMID:36054288|PMID:36243179|PMID:36627197|PMID:37270516|PMID:37433431|PMID:7757073|PMID:8808596|PMID:8809606|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10348818|PMID:10349986|PMID:10422993|PMID:10480359|PMID:10573010|PMID:10713887|PMID:10732761|PMID:10861474|PMID:10874307|PMID:10923051|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12519945|PMID:12522551|PMID:12618391|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14762794|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15222003|PMID:15254659|PMID:15300854|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15655560|PMID:15713769|PMID:15845562|PMID:15849733|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16724012|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:18033691|PMID:18094436|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18772310|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19389263|PMID:19419416|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20858721|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21247423|PMID:21255554|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22180144|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22875147|PMID:22878509|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25637381|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26580448|PMID:26637282|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27300552|PMID:27363726|PMID:27398995|PMID:27498913|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28591715|PMID:28724667|PMID:28767289
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:28822769|PMID:28874130|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29212164|PMID:29238914|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29419868|PMID:29472279|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29752822|PMID:29887214|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30309722|PMID:30322717|PMID:30362666|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31784484|PMID:31822864|PMID:31867841|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33471991|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34408140|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35449176|PMID:35467778|PMID:35713195|PMID:35932099|PMID:36054288|PMID:36243179|PMID:36627197|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37433431|PMID:7757073|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8808596|PMID:8809606|PMID:8872463|PMID:8880570|PMID:8993979|PMID:9032648|PMID:9234704|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9718327|PMID:9806477|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10348818|PMID:10349986|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10923051|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12519945|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14645426|PMID:14699485|PMID:14762794|PMID:14871975|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15254659|PMID:15300854|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15555211|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18772310|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:21952876|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22180144|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22875147|PMID:22878509|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24302565|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26249686
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27295708|PMID:27300552|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27435373|PMID:27449771|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28569743|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28888541|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29755676|PMID:29785566|PMID:29887214|PMID:29950348|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30306255|PMID:30322717|PMID:30362666|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31465090|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31867841|PMID:31948886|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32363481|PMID:32547938|PMID:32553509|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33309985|PMID:33326660|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34172528|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34408140|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35713195|PMID:35884425|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36117189|PMID:36243179|PMID:36461907|PMID:36627197|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37433431|PMID:37854294|PMID:38136308|PMID:38255924|PMID:39004446|PMID:7757073|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9326924|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9806477|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10349986|PMID:10422993|PMID:10480359|PMID:10495924|PMID:10534773|PMID:10573010|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10923051|PMID:10995807|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11208710|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11389087|PMID:11427529|PMID:11429708|PMID:11524701|PMID:11555625|PMID:11585727|PMID:11601928|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12067992|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12200596|PMID:12362047|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12419761|PMID:12519945|PMID:12522551|PMID:12547705|PMID:12618391|PMID:12624141|PMID:12658575|PMID:12799449|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14514376|PMID:14526391|PMID:14635101|PMID:14645426|PMID:14699485|PMID:14762794|PMID:14871975|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15254659|PMID:15300854|PMID:15340264|PMID:15345113|PMID:15475387|PMID:15520370|PMID:15555211|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15926618|PMID:15991306|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16395668|PMID:16451135|PMID:16528606|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16769400|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16929514|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17301300|PMID:17312306|PMID:17370310|PMID:17453009|PMID:17510385|PMID:17576681|PMID:17594722|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18094436|PMID:18205192|PMID:18301448|PMID:18307539|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18547406|PMID:18561205|PMID:18566915|PMID:18709565|PMID:18726168|PMID:18772310|PMID:18809606|PMID:18931482|PMID:19015241|PMID:19116412|PMID:19117025|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19389263|PMID:19419416|PMID:19459153|PMID:19669161|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:20020535|PMID:20045164|PMID:20052760|PMID:20176959|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20978114|PMID:20978117|PMID:21056691|PMID:21120944|PMID:21239990|PMID:21247423|PMID:21387278|PMID:21404117|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21681552|PMID:21868491|PMID:21952876|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22180144|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22585170|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22843852|PMID:22875147|PMID:22878509|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22995991|PMID:23047549|PMID:23354017|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23729658|PMID:23741719|PMID:23760103|PMID:23797718|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24090359|PMID:24096645|PMID:24278394|PMID:24302565|PMID:24344984|PMID:24362816|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25085752|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25318351|PMID:25345868|PMID:25430799|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25741868|PMID:25762362|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26206375|PMID:26247049|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:26467025|PMID:26485756|PMID:26552419|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27121310|PMID:27152634|PMID:27153395|PMID:27295708|PMID:27300552|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27435373|PMID:27449771|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27732944|PMID:27831900|PMID:27978560|PMID:28125075|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28569743|PMID:28591715|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28874130|PMID:28888541|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29069792|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29345684|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29506128|PMID:29520894|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29755676|PMID:29785566|PMID:29887214|PMID:29950348|PMID:30077346|PMID:30093976|PMID:30238922|PMID:30262796|PMID:30306255|PMID:30322717|PMID:30362666|PMID:30374176|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30883245|PMID:30982232|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31207149|PMID:31248605|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31465090|PMID:31491536|PMID:31660093|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:31867841|PMID:31948886|PMID:31958074|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32363481|PMID:32547938|PMID:32553509|PMID:32566746|PMID:32587781|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33281875|PMID:33309985|PMID:33326660|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33821390|PMID:33980423|PMID:34039291|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34408140|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36117189|PMID:36243179|PMID:36461907|PMID:36627197|PMID:36896836|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37306523|PMID:37433431|PMID:37854294|PMID:38003901|PMID:38136308|PMID:38255924|PMID:38350919|PMID:39004446|PMID:7757073|PMID:8566964|PMID:8574961|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9087566|PMID:9234704|PMID:9298827|PMID:9311737|PMID:9326924|PMID:9377556|PMID:9536098|PMID:9697702|PMID:9699680|PMID:9718327|PMID:9806477|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1 | ClinVar Annotator: match by term: mismatch repair cancer syndrome 1	PMID:10037723|PMID:10495924|PMID:10534773|PMID:11555625|PMID:11601928|PMID:11781295|PMID:11793442|PMID:11948175|PMID:12386821|PMID:12547705|PMID:12810663|PMID:14699485|PMID:15300854|PMID:15345113|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15926618|PMID:16083711|PMID:16885385|PMID:16995940|PMID:17135187|PMID:17210669|PMID:17312306|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18205192|PMID:18561205|PMID:19339519|PMID:19419416|PMID:19698169|PMID:19863800|PMID:20020535|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20864636|PMID:21056691|PMID:21120944|PMID:21404117|PMID:21615986|PMID:21952876|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23760103|PMID:24033266|PMID:24362816|PMID:24710284|PMID:24728327|PMID:24903654|PMID:25085752|PMID:25111426|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25617771|PMID:25741868|PMID:25980754|PMID:26247049|PMID:26467025|PMID:26580448|PMID:26761715|PMID:27064304|PMID:27363726|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28874130|PMID:29345684|PMID:29478780|PMID:29684080|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:31054147|PMID:31207149|PMID:31273885|PMID:31360874|PMID:31391288|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:32658311|PMID:32720330|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33558524|PMID:34250417|PMID:34284872|PMID:34326862|PMID:35449176|PMID:35886069|PMID:35932099|PMID:36243179|PMID:37306523|PMID:37854294|PMID:8776590|PMID:8880570|PMID:8993979|PMID:9536098|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:08808596|PMID:10037723|PMID:10534773|PMID:11112663|PMID:11151427|PMID:11555625|PMID:11601928|PMID:11793442|PMID:12810663|PMID:14514376|PMID:14635101|PMID:15300854|PMID:15345113|PMID:15475387|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16142001|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:16885385|PMID:16995940|PMID:17210669|PMID:17510385|PMID:17576681|PMID:17594722|PMID:18033691|PMID:18561205|PMID:18809606|PMID:18931482|PMID:19250818|PMID:19339519|PMID:19669161|PMID:19731080|PMID:19863800|PMID:20223024|PMID:20533529|PMID:20858721|PMID:21056691|PMID:21120944|PMID:21387278|PMID:21598002|PMID:21615986|PMID:21952876|PMID:22086678|PMID:22692065|PMID:22949387|PMID:23047549|PMID:23403630|PMID:23523604|PMID:23760103|PMID:24033266|PMID:24278394|PMID:24362816|PMID:24456667|PMID:24710284|PMID:24728327|PMID:24903654|PMID:25085752|PMID:25111426|PMID:25186627|PMID:25318351|PMID:25559809|PMID:25617771|PMID:25741868|PMID:25871441|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26681312|PMID:26761715|PMID:26845104|PMID:27064304|PMID:27363726|PMID:27629256|PMID:27978560|PMID:28135145|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28765196|PMID:28874130|PMID:29345684|PMID:29478780|PMID:29506128|PMID:29684080|PMID:29755676|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:31054147|PMID:31207149|PMID:31273885|PMID:31360874|PMID:31391288|PMID:31697235|PMID:31742824|PMID:31784484|PMID:31822864|PMID:32658311|PMID:32832836|PMID:32980694|PMID:33191490|PMID:33309985|PMID:33471991|PMID:33558524|PMID:34250417|PMID:34284872|PMID:34326862|PMID:35449176|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:37854294|PMID:8776590|PMID:8808596|PMID:8880570|PMID:8993979|PMID:9536098|PMID:9697702
12139421	MLH1	mutL homolog 1	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, mononuclear cytotrophoblast cell	PMID:15338238|REF_RGD_ID:2293517
12139421	MLH1	mutL homolog 1	gene	DOID:9005804	Vulvar Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	RGD		protein:increased expression:vulva	PMID:15870899|REF_RGD_ID:2293514
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10348818|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10734316|PMID:10793088|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10995807|PMID:11015456|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11292842|PMID:11304573|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12697830|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14985405|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15613555|PMID:15655560|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15926618|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17054581|PMID:17074586|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17889038|PMID:17895478|PMID:17931073|PMID:18033691|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32849802|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28591715
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28640387|PMID:28687356|PMID:28724667|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34404389|PMID:34504932|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20373145|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21840485|PMID:21868491|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26888055|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27284491|PMID:27295708|PMID:27300758|PMID:27357288|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27527004|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27854218|PMID:27930734|PMID:27978560|PMID:28090092|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:28528518|PMID:28529006|PMID:28591715|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:29050249|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30019097|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30274973|PMID:30306255|PMID:30324682|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31642931|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31784484|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31882575|PMID:32039725|PMID:32068069|PMID:32133419|PMID:32156018|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32363481|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32710294|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32959997|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33471991|PMID:33619096|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34172528|PMID:34359559|PMID:34404389|PMID:34504932|PMID:35263119|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8993976|PMID:9032648|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9927033
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28166811|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34680242|PMID:35223509|PMID:35263119|PMID:35467778|PMID:36073783|PMID:5713769|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448|PMID:18307539
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35467778|PMID:35670670|PMID:35884469|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12110639|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18283312|PMID:18301448
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26333163|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27311873|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:35014770|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36988593|PMID:6083711|PMID:661956|PMID:7557107|PMID:7704024|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10348818|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:18033691|PMID:18049911|PMID:18069769|PMID:18094436|PMID:18205192|PMID:18227862
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33253688|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37433431|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25326637|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33253688|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36454741|PMID:36583892|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37296477|PMID:37433431|PMID:38311346|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33191490|PMID:33199489|PMID:33253688|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35666082|PMID:35670670|PMID:35713195|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36139606|PMID:36243179|PMID:36454741|PMID:36583892|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37296477|PMID:37433431|PMID:37664053|PMID:37894291|PMID:38311346|PMID:38439815|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25871441|PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33253688|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34680242|PMID:34711244|PMID:34897210|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35713195|PMID:35884469|PMID:35886069|PMID:36054288|PMID:36073783|PMID:36139606|PMID:36243179|PMID:36356413|PMID:36437392|PMID:36454741|PMID:36531003|PMID:36583892|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36988593|PMID:37270516|PMID:37296477|PMID:37433431|PMID:37664053|PMID:37854294|PMID:37894291|PMID:38311346|PMID:38439815|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25157968|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25823662|PMID:25851949|PMID:25871441
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29485843|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30309722|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30623411|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21278758|PMID:21286667|PMID:21286823|PMID:212891|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:2314542|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24918944|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25871621|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26010451|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26149658|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:2722481|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900|PMID:31857677|PMID:31867841
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31997046|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32906206|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33253688|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37296477|PMID:37306523|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38439815|PMID:38558366|PMID:39004446|PMID:39548353|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10196371|PMID:10199405|PMID:10200055|PMID:10206076|PMID:10323887|PMID:10349986|PMID:10375096|PMID:10386556|PMID:10389971|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10448273|PMID:10471527|PMID:10480359|PMID:10495924|PMID:10521294|PMID:10533476|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10598809|PMID:10601588|PMID:1061282|PMID:10612827|PMID:10627141|PMID:10660333|PMID:10671064|PMID:10709098|PMID:10713887|PMID:10732761|PMID:10733117|PMID:10734316|PMID:10777691|PMID:10793088|PMID:10799973|PMID:10829038|PMID:10861474|PMID:10874307|PMID:10882759|PMID:10923051|PMID:10956410|PMID:10970186|PMID:10985134|PMID:10995807|PMID:11015456|PMID:11066084|PMID:11093816|PMID:11112663|PMID:11139242|PMID:11151427|PMID:11179758|PMID:11208710|PMID:11291077|PMID:11292842|PMID:11304573|PMID:11306449|PMID:11342971|PMID:11343035|PMID:11369138|PMID:11376800|PMID:11385712|PMID:11427529|PMID:11429708|PMID:11474654|PMID:11507050|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11585727|PMID:11601928|PMID:11606497|PMID:11720433|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11772966|PMID:11781295|PMID:11793442|PMID:11839723|PMID:11870161|PMID:11879922|PMID:11920458|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12052501|PMID:12067992|PMID:12070261|PMID:12095971|PMID:12112654|PMID:12115348|PMID:12132870|PMID:12173039|PMID:12183410|PMID:12200596|PMID:12215842|PMID:12362047|PMID:12362848|PMID:12373605|PMID:12377806|PMID:12386821|PMID:12414623|PMID:12414824|PMID:12419761|PMID:12513688|PMID:12519945|PMID:12522551|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12618391|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12658575|PMID:12660027|PMID:12696065|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12808326|PMID:12810663|PMID:12919137|PMID:12919140|PMID:14504054|PMID:14512394|PMID:14514376|PMID:14517962|PMID:14526391|PMID:14574010|PMID:14635101|PMID:14645426|PMID:14688830|PMID:14699485|PMID:14762794|PMID:14871975|PMID:14961575|PMID:14970868|PMID:14985405|PMID:15024732|PMID:15046089|PMID:15099349|PMID:15133479|PMID:15139004|PMID:15173238|PMID:15178966|PMID:15184898|PMID:15217520|PMID:15222003|PMID:15235038|PMID:15253764|PMID:15254659|PMID:15256438|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15340264|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15466831|PMID:15475387|PMID:15494688|PMID:15507669|PMID:15520370|PMID:15555211|PMID:15563510|PMID:15571801|PMID:15613555|PMID:15655560|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15754314|PMID:15765394|PMID:15786548|PMID:15842942|PMID:15845562|PMID:15849733|PMID:15849752|PMID:15855432|PMID:15864295|PMID:15870828|PMID:15872200|PMID:15879014|PMID:15923275|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15991064|PMID:15991306|PMID:15993273|PMID:15996210|PMID:16034045|PMID:16083711|PMID:16116158|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16203774|PMID:16206289|PMID:16216036|PMID:16237216|PMID:16237223|PMID:16270383|PMID:16276679|PMID:16288214|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16425354|PMID:16451135|PMID:16456782|PMID:16521201|PMID:16528606|PMID:16616355|PMID:16636019|PMID:16685411|PMID:16724012|PMID:16736289|PMID:16736291|PMID:16769400|PMID:16807412|PMID:16810763|PMID:16830052|PMID:16837128|PMID:16885385|PMID:16929514|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17011982|PMID:17026620|PMID:17054581|PMID:17074586|PMID:17087981|PMID:17095871|PMID:17117178|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17203532|PMID:17210669|PMID:17222328|PMID:17250665|PMID:17267619|PMID:17301300|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17414604|PMID:17417778|PMID:17440950|PMID:17453009|PMID:17473388|PMID:1749856|PMID:17498565|PMID:17505997|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17665423|PMID:17666659|PMID:17690979|PMID:17889038|PMID:17895478|PMID:17931073|PMID:17973250|PMID:17973265|PMID:18033691|PMID:18049911|PMID:18069769
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:18094436|PMID:18205192|PMID:18227862|PMID:18270343|PMID:18301448|PMID:18307539|PMID:18325052|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:18470917|PMID:18518984|PMID:18543228|PMID:18547406|PMID:1856120|PMID:18561205|PMID:185612205|PMID:18566915|PMID:18618713|PMID:18625694|PMID:18636350|PMID:18709565|PMID:18713544|PMID:18726168|PMID:18759827|PMID:18769833|PMID:18772310|PMID:18792805|PMID:18809606|PMID:18931482|PMID:18951440|PMID:18990764|PMID:18999873|PMID:19015241|PMID:19047842|PMID:19072991|PMID:19116412|PMID:19117025|PMID:19133695|PMID:19142183|PMID:19224586|PMID:19248199|PMID:19250818|PMID:19267393|PMID:19324997|PMID:19339519|PMID:19360343|PMID:19386570|PMID:19389263|PMID:19419416|PMID:19423266|PMID:19459153|PMID:19479271|PMID:19504447|PMID:19526325|PMID:19575290|PMID:19621678|PMID:19665066|PMID:19669161|PMID:19685281|PMID:19688281|PMID:19690142|PMID:19697156|PMID:19698169|PMID:19731080|PMID:19760518|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20034658|PMID:20045164|PMID:20052760|PMID:20167975|PMID:20176655|PMID:20176959|PMID:20215533|PMID:2022152|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20373145|PMID:20413677|PMID:20459533|PMID:20473912|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20704743|PMID:20717847|PMID:20858721|PMID:20860725|PMID:20864636|PMID:20924129|PMID:20937110|PMID:20965939|PMID:20978114|PMID:20978117|PMID:21034533|PMID:21056691|PMID:21064154|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21155023|PMID:21239990|PMID:21247423|PMID:21278758|PMID:21286667|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21404177|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21636617|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21671475|PMID:21681552|PMID:21778331|PMID:21840485|PMID:21868491|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22006311|PMID:22034109|PMID:22081473|PMID:22086678|PMID:22086679|PMID:22120844|PMID:22136435|PMID:22144684|PMID:22160601|PMID:22180144|PMID:22216297|PMID:2224779|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22395473|PMID:22426235|PMID:22453149|PMID:22480969|PMID:22585170|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22766992|PMID:22773173|PMID:22776989|PMID:22788692|PMID:22843852|PMID:22854115|PMID:22875147|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22908213|PMID:22949379|PMID:22949387|PMID:22987205|PMID:22995991|PMID:23047549|PMID:23100212|PMID:23112559|PMID:23224667|PMID:23329266|PMID:23354017|PMID:23354634|PMID:23403630|PMID:23431106|PMID:23435383|PMID:23523604|PMID:23544471|PMID:2357243|PMID:23573243|PMID:23588873|PMID:23612316|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23702729|PMID:23712482|PMID:23716351|PMID:23729658|PMID:23733757|PMID:23741719|PMID:23747338|PMID:23752102|PMID:23760103|PMID:23797718|PMID:23990280|PMID:24032978|PMID:24033266|PMID:24055113|PMID:24073290|PMID:24084575|PMID:2408575|PMID:24090359|PMID:24096645|PMID:24122200|PMID:2414824|PMID:24204293|PMID:24278394|PMID:24292105|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24383517|PMID:24415873|PMID:24440087|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24743384|PMID:24763289|PMID:24802709|PMID:24811117|PMID:24851142|PMID:24903654|PMID:24933000|PMID:24953332|PMID:24989436|PMID:25025451|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25107687|PMID:25110875|PMID:25111426|PMID:25115387|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25142776|PMID:25148578|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25338684|PMID:25345868|PMID:25389437|PMID:25420488|PMID:25430799|PMID:25435955|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25576899|PMID:25579085|PMID:25617771|PMID:25637381|PMID:25648859|PMID:25712738|PMID:25712765|PMID:25741868|PMID:25762362|PMID:25782445|PMID:25801821|PMID:25851949|PMID:25871441|PMID:25871621
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25877891|PMID:25882375|PMID:25892863|PMID:25927356|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26149658|PMID:26202870|PMID:26206375|PMID:26247049|PMID:26247079|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26437357|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26510091|PMID:26517685|PMID:26552419|PMID:26557847|PMID:26580448|PMID:26628864|PMID:26637282|PMID:26648449|PMID:26659599|PMID:26659639|PMID:26666765|PMID:26681312|PMID:26710000|PMID:26743599|PMID:26761715|PMID:26811195|PMID:26817999|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26893603|PMID:26895986|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27013479|PMID:27064304|PMID:2707453|PMID:27093186|PMID:27121310|PMID:27146902|PMID:27150160|PMID:27152634|PMID:27153395|PMID:27173243|PMID:27185373|PMID:27247567|PMID:27273229|PMID:27284491|PMID:27295708|PMID:27300552|PMID:27300758|PMID:27311873|PMID:27328445|PMID:27329137|PMID:27357288|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27435373|PMID:27443514|PMID:27449771|PMID:27468915|PMID:27487738|PMID:27498913|PMID:27499925|PMID:27527004|PMID:27535758|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27602174|PMID:27606285|PMID:27616075|PMID:27629256|PMID:27647783|PMID:27696107|PMID:27732944|PMID:27831900|PMID:27899187|PMID:27930734|PMID:27938333|PMID:27978560|PMID:28125075|PMID:28127413|PMID:28135048|PMID:28135145|PMID:28152038|PMID:28157215|PMID:28195393|PMID:28259476|PMID:28334867|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28503720|PMID:28514183|PMID:28526081|PMID:28528518|PMID:28529006|PMID:28569743|PMID:28591715|PMID:28596308|PMID:28640387|PMID:28643016|PMID:28669579|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28822769|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28932927|PMID:28944238|PMID:28961279|PMID:28975465|PMID:29050249|PMID:29069792|PMID:29106415|PMID:29124495|PMID:29151953|PMID:29175432|PMID:29184699|PMID:29186113|PMID:29192238|PMID:29212164|PMID:29228462|PMID:29237405|PMID:29238914|PMID:29263802|PMID:29288294|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29360550|PMID:29368341|PMID:29419868|PMID:29439113|PMID:29442399|PMID:29472279|PMID:29478780|PMID:29484706|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29546405|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29700634|PMID:29706640|PMID:29750335|PMID:29752822|PMID:29755653|PMID:29755676|PMID:29758216|PMID:29760937|PMID:29785566|PMID:29790873|PMID:29845239|PMID:29866690|PMID:29882764|PMID:29887214|PMID:29922827|PMID:29950348|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30077346|PMID:30086788|PMID:30089731|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30251116|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30362666|PMID:30374176|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30539002|PMID:30578687|PMID:30580288|PMID:30614234|PMID:30702970|PMID:30720243|PMID:30723297|PMID:30729418|PMID:30770470|PMID:30803214|PMID:30829280|PMID:30833958|PMID:30850667|PMID:30866919|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30982232|PMID:30989425|PMID:30998989|PMID:31028081|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31114938|PMID:31118792|PMID:31127692|PMID:31131953|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31248605|PMID:31273614|PMID:31273885|PMID:31289279|PMID:31297992|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31447099|PMID:31465090|PMID:31470354|PMID:31491536|PMID:31494577|PMID:31515488|PMID:31588121|PMID:31641931|PMID:31642931|PMID:31649038|PMID:31650731|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31815095|PMID:31822864|PMID:31830689|PMID:31843900
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31857677|PMID:31867841|PMID:31881334|PMID:31882575|PMID:31942411|PMID:31948886|PMID:31958074|PMID:31997046|PMID:32019277|PMID:32039725|PMID:32040686|PMID:32061754|PMID:32068069|PMID:32076465|PMID:32081490|PMID:32091409|PMID:32123317|PMID:32133419|PMID:32156018|PMID:32167968|PMID:32206572|PMID:32241160|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32356167|PMID:32363481|PMID:32427313|PMID:32457826|PMID:32459922|PMID:32489267|PMID:32490589|PMID:32547938|PMID:32549215|PMID:32553509|PMID:32566746|PMID:32571878|PMID:32587781|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32661327|PMID:32678338|PMID:32710294|PMID:32719484|PMID:32741062|PMID:32756484|PMID:32761968|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32914570|PMID:32923906|PMID:32933947|PMID:32957588|PMID:32959997|PMID:32973888|PMID:32980694|PMID:32986223|PMID:33046448|PMID:33181636|PMID:33191490|PMID:33199489|PMID:33215268|PMID:33253688|PMID:33259954|PMID:33260537|PMID:33281875|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33326660|PMID:33383211|PMID:33436027|PMID:33467402|PMID:33468175|PMID:33471991|PMID:33484353|PMID:33558524|PMID:33619096|PMID:33630411|PMID:33647816|PMID:33672345|PMID:33693762|PMID:33768299|PMID:33809179|PMID:33821390|PMID:33850299|PMID:33868589|PMID:33980423|PMID:34039291|PMID:34099697|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34221829|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308366|PMID:34326862|PMID:34347074|PMID:34359559|PMID:34404389|PMID:34408140|PMID:34504932|PMID:34519692|PMID:34545850|PMID:34598035|PMID:34663891|PMID:34680242|PMID:34707284|PMID:34711244|PMID:34873480|PMID:34897210|PMID:34916366|PMID:34925852|PMID:34994648|PMID:35014770|PMID:35171259|PMID:35176137|PMID:35220195|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35313100|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35475445|PMID:35477782|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35670670|PMID:35694191|PMID:35713195|PMID:35884425|PMID:35884469|PMID:35886069|PMID:35932099|PMID:35980532|PMID:36054288|PMID:36073783|PMID:36117189|PMID:36139606|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36421850|PMID:36437392|PMID:36454741|PMID:36461907|PMID:36531003|PMID:36583892|PMID:3658675|PMID:36593122|PMID:36627197|PMID:36753688|PMID:36896836|PMID:36988593|PMID:37057674|PMID:37060988|PMID:37088804|PMID:37224528|PMID:37244485|PMID:37270516|PMID:37296477|PMID:37306523|PMID:37323311|PMID:37433431|PMID:37509324|PMID:37554185|PMID:37664053|PMID:37743058|PMID:37854294|PMID:37894291|PMID:37894432|PMID:37965459|PMID:38003003|PMID:38003901|PMID:38136308|PMID:38255924|PMID:38311346|PMID:38350919|PMID:38439815|PMID:38558366|PMID:38641238|PMID:38843250|PMID:39004446|PMID:39109916|PMID:39546165|PMID:39548353|PMID:4830045|PMID:661956|PMID:7557107|PMID:7584997|PMID:7704024|PMID:7728749|PMID:7757073|PMID:7812952|PMID:8128251|PMID:8145827|PMID:8521394|PMID:8521398|PMID:8566964|PMID:8571956|PMID:8574961|PMID:8581513|PMID:8592341|PMID:8646682|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8809606|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8895729|PMID:8938136|PMID:8940269|PMID:8971183|PMID:8978340|PMID:8993976|PMID:8993979|PMID:9032648|PMID:9048925|PMID:9052445|PMID:9057658|PMID:9071575|PMID:9087566|PMID:9218993|PMID:9234704|PMID:9245993|PMID:9272156|PMID:9288790|PMID:9298827|PMID:9311727|PMID:9311737|PMID:9322509|PMID:9326924|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9490293|PMID:9506527|PMID:9526167|PMID:9536098|PMID:9559627|PMID:9593786|PMID:9611074|PMID:9634524|PMID:9697702|PMID:9699680|PMID:9710617|PMID:9718327|PMID:9777949|PMID:9788388|PMID:9806477|PMID:9820400|PMID:9833759|PMID:9845760|PMID:9927033|PMID:9927034
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10375096|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10480359|PMID:10495924|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10612827|PMID:10627141|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11066084|PMID:11112663|PMID:11306449|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12215842|PMID:12362047|PMID:12386821|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12810663|PMID:14517962|PMID:14526391|PMID:14635101|PMID:14699485|PMID:14871975|PMID:14970868|PMID:15099349|PMID:15184898|PMID:15289847|PMID:15300854|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15507669|PMID:15555211|PMID:15613555|PMID:15677628|PMID:15713769|PMID:15731775|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16807412|PMID:16830052|PMID:16885385|PMID:16955466|PMID:16963262|PMID:16982745|PMID:16995940|PMID:17026620|PMID:17054581|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17210669|PMID:17250665|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17440950|PMID:17473388|PMID:17510385|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17666659|PMID:17690979|PMID:18033691|PMID:18094436|PMID:18205192|PMID:18227862|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18726168|PMID:18769833|PMID:18772310|PMID:18931482|PMID:18990764|PMID:19015241|PMID:19072991|PMID:19142183|PMID:19224586|PMID:19267393|PMID:19339519|PMID:19419416|PMID:19459153|PMID:19479271|PMID:19526325|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20215533|PMID:20233461|PMID:20305446|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20682701|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21239990|PMID:21286823|PMID:21311894|PMID:21404117|PMID:21520333|PMID:21590452|PMID:21615986|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22120844|PMID:22136435|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22658618|PMID:22692065|PMID:22703879|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23403630|PMID:23435383|PMID:23523604|PMID:2362047|PMID:23640085|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24302565|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24456667|PMID:24549055|PMID:24612714|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25077178|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25712738|PMID:25741868|PMID:25762362|PMID:25892863|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26096739|PMID:26149658|PMID:26247049|PMID:26248088|PMID:26249686|PMID:26333163|PMID:26380867|PMID:26467025
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26710000|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27013479|PMID:27064304|PMID:27146902|PMID:27150160|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27499925|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27938333|PMID:27978560|PMID:27993330|PMID:28135145|PMID:28157215|PMID:28195393|PMID:28445943|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28727142|PMID:28767177|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29175432|PMID:29212164|PMID:29237405|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29472279|PMID:29478780|PMID:29505604|PMID:29520894|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29967336|PMID:30072391|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30376426|PMID:30376427|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30770470|PMID:30850667|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273614|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31465090|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31857677|PMID:31882575|PMID:32030746|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32457826|PMID:32459922|PMID:32547938|PMID:32553509|PMID:32566746|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32720330|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32933947|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33303966|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33558524|PMID:34039291|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34897210|PMID:34994648|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35666082|PMID:35884425|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36583892|PMID:3658675|PMID:36593122|PMID:37296477|PMID:37306523|PMID:37854294|PMID:37900184|PMID:38255924|PMID:38311346|PMID:38947473|PMID:40065011|PMID:4830045|PMID:661956|PMID:7757073|PMID:8128251|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8776590|PMID:8797773|PMID:8863153|PMID:8880570|PMID:8993976|PMID:8993979|PMID:9298827|PMID:9322509|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:08808596|PMID:10037723|PMID:10082584|PMID:10199405|PMID:10200055|PMID:10323887|PMID:10413423|PMID:10422993|PMID:10446963|PMID:10480359|PMID:10495924|PMID:10534773|PMID:10564582|PMID:10573010|PMID:10592235|PMID:10612827|PMID:10627141|PMID:10732761|PMID:10882759|PMID:10923051|PMID:10956410|PMID:11066084|PMID:11112663|PMID:11151427|PMID:11306449|PMID:11524701|PMID:11555625|PMID:11574484|PMID:11601928|PMID:11606497|PMID:11726306|PMID:11748856|PMID:11754112|PMID:11781295|PMID:11793442|PMID:11920650|PMID:11948175|PMID:12011148|PMID:12095971|PMID:12112654|PMID:12173039|PMID:12183410|PMID:12215842|PMID:12362047|PMID:12386821|PMID:12419761|PMID:12537657|PMID:12547705|PMID:12555990|PMID:12624141|PMID:12655562|PMID:12655564|PMID:12655568|PMID:12697830|PMID:12782329|PMID:12799449|PMID:12810663|PMID:14514376|PMID:14517962|PMID:14635101|PMID:14871975|PMID:14970868|PMID:15099349|PMID:15184898|PMID:15289847|PMID:15300854|PMID:15309712|PMID:15342696|PMID:15345113|PMID:15365995|PMID:15365996|PMID:15475387|PMID:15555211|PMID:15613555|PMID:15677628|PMID:15713769|PMID:15765394|PMID:15849733|PMID:15872200|PMID:15926618|PMID:15942939|PMID:15943554|PMID:15955785|PMID:15996210|PMID:16083711|PMID:16142001|PMID:16181381|PMID:16199547|PMID:16216036|PMID:16237216|PMID:16338176|PMID:16341550|PMID:16341804|PMID:16379545|PMID:16395668|PMID:16451135|PMID:16616355|PMID:16636019|PMID:16724012|PMID:16736289|PMID:16807412|PMID:16885385|PMID:16955466|PMID:16982745|PMID:16995940|PMID:17026620|PMID:17054581|PMID:17095871|PMID:17135187|PMID:17192056|PMID:17199584|PMID:17210669|PMID:17250665|PMID:17312306|PMID:17348456|PMID:17370310|PMID:17440950|PMID:17453009|PMID:17473388|PMID:17510385|PMID:1756143|PMID:17569143|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17666659|PMID:17690979|PMID:18033691|PMID:18094436|PMID:18227862|PMID:18307539|PMID:18337503|PMID:18373977|PMID:18383312|PMID:18389388|PMID:18415027|PMID:1856120|PMID:18561205|PMID:18566915|PMID:18625694|PMID:18769833|PMID:18772310|PMID:18809606|PMID:18931482|PMID:18990764|PMID:19015241|PMID:19072991|PMID:19142183|PMID:19224586|PMID:19250818|PMID:19267393|PMID:19339519|PMID:19419416|PMID:19459153|PMID:19479271|PMID:19526325|PMID:19575290|PMID:19669161|PMID:19685281|PMID:19690142|PMID:19698169|PMID:19731080|PMID:19863800|PMID:19893772|PMID:20007843|PMID:20020535|PMID:20215533|PMID:20223024|PMID:20233461|PMID:20305446|PMID:20459533|PMID:20533529|PMID:20587412|PMID:20717847|PMID:20858721|PMID:20864636|PMID:20924129|PMID:20937110|PMID:21034533|PMID:21056691|PMID:21120944|PMID:21136174|PMID:21153778|PMID:21239990|PMID:21286823|PMID:21311894|PMID:21387278|PMID:21404117|PMID:21520333|PMID:21590452|PMID:21598002|PMID:21615986|PMID:21642682|PMID:21665242|PMID:21671081|PMID:21681552|PMID:21840485|PMID:21879275|PMID:21901500|PMID:21952876|PMID:22034109|PMID:22086678|PMID:22120844|PMID:22252508|PMID:22290698|PMID:22322191|PMID:22453149|PMID:22658618|PMID:22691310|PMID:22692065|PMID:22736432|PMID:22753075|PMID:22776989|PMID:22854115|PMID:22878509|PMID:22883484|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23100212|PMID:23354017|PMID:23403630|PMID:23435383|PMID:23523604|PMID:2362047|PMID:23640085|PMID:23695190|PMID:23729658|PMID:23741719|PMID:23747338|PMID:23760103|PMID:24033266|PMID:24084575|PMID:24090359|PMID:24096645|PMID:24204293|PMID:24278394|PMID:24302565|PMID:24323032|PMID:24333619|PMID:24344984|PMID:24362816|PMID:24415873|PMID:24456667|PMID:24518125|PMID:24549055|PMID:24612714|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24802709|PMID:24903654|PMID:25060679|PMID:25077178|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25123297|PMID:25133505|PMID:25186627|PMID:25194673|PMID:25197397|PMID:25318351|PMID:25420488|PMID:25430799|PMID:25437057|PMID:25477341|PMID:25479140|PMID:25503501|PMID:25504677|PMID:25525159|PMID:25530820|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25712738|PMID:25741868|PMID:25871441|PMID:25892863|PMID:25980754|PMID:25986922|PMID:26053027|PMID:26078562|PMID:26149658
12139421	MLH1	mutL homolog 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26247049|PMID:26248088|PMID:26249686|PMID:26300997|PMID:26333163|PMID:26380867|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26580448|PMID:26681312|PMID:26710000|PMID:26761715|PMID:26845104|PMID:26888055|PMID:26895986|PMID:27013479|PMID:27064304|PMID:27146902|PMID:27150160|PMID:27247567|PMID:27273229|PMID:27295708|PMID:27300758|PMID:27329137|PMID:27363726|PMID:27435373|PMID:27443514|PMID:27499925|PMID:27535758|PMID:27601186|PMID:27606285|PMID:27629256|PMID:27696107|PMID:27938333|PMID:27978560|PMID:27993330|PMID:28127413|PMID:28135145|PMID:28157215|PMID:28195393|PMID:28449805|PMID:28466842|PMID:28492532|PMID:28494185|PMID:28495237|PMID:28514183|PMID:28528518|PMID:28591715|PMID:28643016|PMID:28727142|PMID:28765196|PMID:28767177|PMID:28767289|PMID:28828701|PMID:28873162|PMID:28874130|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29151953|PMID:29175432|PMID:29212164|PMID:29237405|PMID:29263802|PMID:29335925|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29478780|PMID:29505604|PMID:29506128|PMID:29520894|PMID:29575718|PMID:29684080|PMID:29755676|PMID:29887214|PMID:29967336|PMID:30086788|PMID:30093976|PMID:30212499|PMID:30238922|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30279230|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30376426|PMID:30426508|PMID:30504929|PMID:30521064|PMID:30720243|PMID:30723297|PMID:30770470|PMID:30877237|PMID:30982232|PMID:30998989|PMID:31054147|PMID:31068090|PMID:31101557|PMID:31118792|PMID:31159747|PMID:31160353|PMID:31207149|PMID:31273885|PMID:31332305|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31465090|PMID:31515488|PMID:31588121|PMID:31642931|PMID:31658756|PMID:31697235|PMID:31742824|PMID:31780705|PMID:31784484|PMID:31822864|PMID:31857677|PMID:32030746|PMID:32081490|PMID:32133419|PMID:32206572|PMID:32241160|PMID:32356167|PMID:32459922|PMID:32547938|PMID:32553509|PMID:32601921|PMID:32620519|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659967|PMID:32719484|PMID:32832836|PMID:32849802|PMID:32885271|PMID:32933947|PMID:32957588|PMID:32973888|PMID:32980694|PMID:33191490|PMID:33199489|PMID:33294277|PMID:33309985|PMID:33468175|PMID:33471991|PMID:33558524|PMID:34039291|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34284872|PMID:34326862|PMID:34347074|PMID:34897210|PMID:34994648|PMID:35171259|PMID:35220195|PMID:35223509|PMID:35264596|PMID:35449176|PMID:35477782|PMID:35534704|PMID:35666082|PMID:35884425|PMID:35886069|PMID:35932099|PMID:36054288|PMID:36073783|PMID:36243179|PMID:36290365|PMID:36421850|PMID:36454741|PMID:36583892|PMID:3658675|PMID:36988593|PMID:37296477|PMID:37854294|PMID:37900184|PMID:38255924|PMID:38311346|PMID:38947473|PMID:40065011|PMID:4830045|PMID:7757073|PMID:8521398|PMID:8571956|PMID:8574961|PMID:8592341|PMID:8776590|PMID:8797773|PMID:8808596|PMID:8863153|PMID:8872463|PMID:8880570|PMID:8993976|PMID:8993979|PMID:9298827|PMID:9322509|PMID:9377556|PMID:9399661|PMID:9419403|PMID:9536098|PMID:9559627|PMID:9611074|PMID:9697702|PMID:9718327|PMID:9777949|PMID:9827806|PMID:9833759
12139421	MLH1	mutL homolog 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:733729	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:08808596|PMID:11112663|PMID:11151427|PMID:11601928|PMID:14514376|PMID:14635101|PMID:15849733|PMID:16216036|PMID:16341550|PMID:16395668|PMID:16451135|PMID:17576681|PMID:18561205|PMID:18931482|PMID:19669161|PMID:19731080|PMID:20223024|PMID:21387278|PMID:21598002|PMID:24278394|PMID:24456667|PMID:25085752|PMID:25741868|PMID:26300997|PMID:26467025|PMID:26681312|PMID:28492532|PMID:29506128|PMID:8808596|PMID:9536098
12139421	MLH1	mutL homolog 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:733729	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18497967|PMID:18718023|PMID:18949393
12139421	MLH1	mutL homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733729	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10200055|PMID:11066084|PMID:11306449|PMID:12362047|PMID:15300854|PMID:15345113|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16199547|PMID:16451135|PMID:17576681|PMID:17690979|PMID:19669161|PMID:21120944|PMID:21404117|PMID:21840485|PMID:22878509|PMID:22949379|PMID:24084575|PMID:24362816|PMID:25741868|PMID:26467025|PMID:26888055|PMID:27064304|PMID:27273229|PMID:27363726|PMID:27435373|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28492532|PMID:28514183|PMID:29338689|PMID:29887214|PMID:29922827|PMID:30720243|PMID:31386297|PMID:31391288|PMID:32241160|PMID:33191490|PMID:33471991|PMID:33558524|PMID:34039291|PMID:9322509|PMID:9536098
12139421	MLH1	mutL homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733729	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10200055|PMID:11066084|PMID:11306449|PMID:12362047|PMID:15345113|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16199547|PMID:16451135|PMID:19669161|PMID:21120944|PMID:21840485|PMID:22878509|PMID:22949379|PMID:24084575|PMID:24362816|PMID:25741868|PMID:26467025|PMID:26888055|PMID:27273229|PMID:27363726|PMID:27435373|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28514183|PMID:29338689|PMID:29887214|PMID:30720243|PMID:31386297|PMID:32241160|PMID:33191490|PMID:33558524|PMID:34039291|PMID:34897210|PMID:9322509
12139421	MLH1	mutL homolog 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733729	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:10200055|PMID:11066084|PMID:11306449|PMID:12362047|PMID:15345113|PMID:15713769|PMID:15849733|PMID:16083711|PMID:16199547|PMID:16451135|PMID:17690979|PMID:19669161|PMID:21120944|PMID:21840485|PMID:22878509|PMID:22949379|PMID:24084575|PMID:24362816|PMID:25741868|PMID:26467025|PMID:26888055|PMID:27273229|PMID:27363726|PMID:27435373|PMID:27978560|PMID:28135145|PMID:28492532|PMID:28514183|PMID:29338689|PMID:29887214|PMID:30720243|PMID:31386297|PMID:32241160|PMID:33191490|PMID:33558524|PMID:34039291|PMID:34897210|PMID:9322509
12139421	MLH1	mutL homolog 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733729	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11726306|PMID:12919137|PMID:15849733|PMID:17895478|PMID:18931482|PMID:20587412|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279|PMID:29684080|PMID:31843900
12139421	MLH1	mutL homolog 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11726306|PMID:12362047|PMID:12919137|PMID:15507669|PMID:15849733|PMID:16341550|PMID:16451135|PMID:17192056|PMID:17895478|PMID:18383312|PMID:21404117|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279
12139421	MLH1	mutL homolog 1	gene	DOID:9256	colorectal cancer		ISO	RGD:733729	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11726306|PMID:12362047|PMID:12919137|PMID:15849733|PMID:16341550|PMID:17192056|PMID:17895478|PMID:18383312|PMID:21404117|PMID:22878509|PMID:24033266|PMID:25741868|PMID:25980754|PMID:26888055|PMID:28492532|PMID:29472279
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:10534	stomach cancer		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:3275	thymoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:4362	cervical cancer		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1604055	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:6039	uveal melanoma		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139476	MFSD10	major facilitator superfamily domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604055	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139493	CDH13	cadherin 13	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18387661|REF_RGD_ID:2293539
12139493	CDH13	cadherin 13	gene	DOID:10534	stomach cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139493	CDH13	cadherin 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:18094410|REF_RGD_ID:2293014
12139493	CDH13	cadherin 13	gene	DOID:1115	sarcoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139493	CDH13	cadherin 13	gene	DOID:1324	lung cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139493	CDH13	cadherin 13	gene	DOID:1612	breast cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:17764565|REF_RGD_ID:2293542
12139493	CDH13	cadherin 13	gene	DOID:1612	breast cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast duct:	PMID:8673923|REF_RGD_ID:734735
12139493	CDH13	cadherin 13	gene	DOID:2349	arteriosclerosis		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta	PMID:11326751|REF_RGD_ID:2293555
12139493	CDH13	cadherin 13	gene	DOID:2394	ovarian cancer		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:10493953|REF_RGD_ID:2298987
12139493	CDH13	cadherin 13	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypomethylation	PMID:18519763|REF_RGD_ID:2298985
12139493	CDH13	cadherin 13	gene	DOID:303	substance-related disorder		ISO	RGD:619745	D	RGD:9068941	20200820	RGD			PMID:28387990|REF_RGD_ID:13503340
12139493	CDH13	cadherin 13	gene	DOID:303	substance-related disorder		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12139493	CDH13	cadherin 13	gene	DOID:3459	breast carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:11389090|REF_RGD_ID:2293545
12139493	CDH13	cadherin 13	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
12139493	CDH13	cadherin 13	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:11389090|REF_RGD_ID:2293545
12139493	CDH13	cadherin 13	gene	DOID:4247	coronary restenosis		ISO	RGD:619745	D	RGD:9068941	20200609	RGD		protein:increased expression:artery, smooth muscle cell	PMID:12376824|REF_RGD_ID:2293553
12139493	CDH13	cadherin 13	gene	DOID:4362	cervical cancer		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139493	CDH13	cadherin 13	gene	DOID:5041	esophageal cancer		ISO	RGD:734374	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139493	CDH13	cadherin 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139493	CDH13	cadherin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139493	CDH13	cadherin 13	gene	DOID:670	amphetamine abuse		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12139493	CDH13	cadherin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139493	CDH13	cadherin 13	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18729198
12139493	CDH13	cadherin 13	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17029216|REF_RGD_ID:2293544
12139493	CDH13	cadherin 13	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17288544|PMID:18264096
12139493	CDH13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:619745	D	RGD:9068941	20200609	RGD		associated with Inflammation;DNA:hypermethylation:promoter	PMID:17971904|REF_RGD_ID:2293546
12139493	CDH13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
12139493	CDH13	cadherin 13	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734374	D	RGD:9068941	20200609	RGD			PMID:9737784|REF_RGD_ID:734736
12139493	CDH13	cadherin 13	gene	DOID:9005233	Experimental Mammary Neoplasms	severity	ISO	RGD:734375	D	RGD:9068941	20200609	RGD			PMID:18316604|REF_RGD_ID:2293540
12139493	CDH13	cadherin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139493	CDH13	cadherin 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139493	CDH13	cadherin 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734374	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139493	CDH13	cadherin 13	gene	DOID:9206	Barrett's esophagus		ISO	RGD:734374	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18729198
12139511	TPM4	tropomyosin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139511	TPM4	tropomyosin 4	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12139511	TPM4	tropomyosin 4	gene	DOID:10320	asbestosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
12139511	TPM4	tropomyosin 4	gene	DOID:10534	stomach cancer		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139511	TPM4	tropomyosin 4	gene	DOID:11476	osteoporosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12139511	TPM4	tropomyosin 4	gene	DOID:1909	melanoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139511	TPM4	tropomyosin 4	gene	DOID:2213	hemorrhagic disease		ISO	RGD:736665	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	
12139511	TPM4	tropomyosin 4	gene	DOID:3070	high grade glioma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12139511	TPM4	tropomyosin 4	gene	DOID:3275	thymoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139511	TPM4	tropomyosin 4	gene	DOID:4362	cervical cancer		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139511	TPM4	tropomyosin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139511	TPM4	tropomyosin 4	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12139511	TPM4	tropomyosin 4	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085005
12139511	TPM4	tropomyosin 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12139511	TPM4	tropomyosin 4	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12139511	TPM4	tropomyosin 4	gene	DOID:9004657	Weight Gain		ISO	RGD:736665	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12139511	TPM4	tropomyosin 4	gene	DOID:9005692	Platelet-Type Bleeding Disorder 25		ISO	RGD:736665	D	RGD:7240710	20230906	OMIM			
12139511	TPM4	tropomyosin 4	gene	DOID:9005692	Platelet-Type Bleeding Disorder 25		ISO	RGD:736665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BLEEDING DISORDER, PLATELET-TYPE, 25 | ClinVar Annotator: match by term: Bleeding disorder, platelet-type, 25	PMID:25741868|PMID:35170221
12139511	TPM4	tropomyosin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:0060058	lymphoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:1324	lung cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:3070	high grade glioma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:3275	thymoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1308903	D	RGD:9068941	20200609	RGD			PMID:23595987|REF_RGD_ID:9685169
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603540	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1308903	D	RGD:9068941	20200609	RGD			PMID:23595987|REF_RGD_ID:9685169
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1308903	D	RGD:9068941	20200609	RGD			PMID:19706791|REF_RGD_ID:9685172
12139565	CRTC2	CREB regulated transcription coactivator 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1332035	D	RGD:9068941	20200609	RGD			PMID:19706791|REF_RGD_ID:9685172
12139633	TPO	thyroid peroxidase	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:735786	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital hypothyroidism	PMID:11061528|PMID:12938097|PMID:17547680|PMID:23236987|PMID:25564141|PMID:25741868|PMID:27525530|PMID:28492532
12139633	TPO	thyroid peroxidase	gene	DOID:0112186	thyroid dyshormonogenesis 2A		ISO	RGD:735786	D	RGD:7240710	20180130	OMIM			
12139633	TPO	thyroid peroxidase	gene	DOID:0112186	thyroid dyshormonogenesis 2A		ISO	RGD:735786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: THYROID DYSHORMONOGENESIS 2A | ClinVar Annotator: match by term: TPO-related condition	PMID:16684826|PMID:25741868|PMID:27525530|PMID:28492532|PMID:7550241
12139633	TPO	thyroid peroxidase	gene	DOID:12176	goiter		ISO	RGD:735786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12564727|PMID:14751036|PMID:17547680
12139633	TPO	thyroid peroxidase	gene	DOID:12361	Graves' disease		ISO	RGD:735786	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
12139633	TPO	thyroid peroxidase	gene	DOID:1459	hypothyroidism		IAGP		D	RGD:12801476	20240724	OMIA		Hypothyroidism, congenital	PMID:2307615|PMID:2061865|PMID:8496104|PMID:8116929|PMID:8175472|PMID:8091179|PMID:7730121|PMID:7695146|PMID:7744675|PMID:8592797|PMID:8731132|PMID:8799987|PMID:8885174|PMID:8913019|PMID:9282344|PMID:9444634|PMID:9503354|PMID:9590447|PMID:9682425|PMID:10088086|PMID:10340250|PMID:10340243|PMID:11316303|PMID:11860240|PMID:12416867|PMID:12219595|PMID:12564727|PMID:12741092|PMID:12892299|PMID:14518649|PMID:16451201|PMID:16300118|PMID:17619004|PMID:17619002|PMID:12125189|PMID:21541884|PMID:17197623|PMID:23113744|PMID:23223904|PMID:23683021|PMID:25555336|PMID:25958183|PMID:26478542|PMID:26401340|PMID:26401337|PMID:26261983|PMID:27267591|PMID:26696394|PMID:25290378|PMID:3223852|PMID:1748985|PMID:35610669|PMID:37167252|PMID:37980820|PMID:38532265
12139633	TPO	thyroid peroxidase	gene	DOID:1459	hypothyroidism		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12139633	TPO	thyroid peroxidase	gene	DOID:1909	melanoma		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:11061528|PMID:23236987|PMID:25564141|PMID:25741868|PMID:28492532|PMID:29790453|PMID:34248839
12139633	TPO	thyroid peroxidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12139633	TPO	thyroid peroxidase	gene	DOID:2921	glomerulonephritis		ISO	RGD:735786	D	RGD:9068941	20200609	RGD			PMID:8393543|REF_RGD_ID:7207483
12139633	TPO	thyroid peroxidase	gene	DOID:417	autoimmune disease		ISO	RGD:735786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27869686
12139633	TPO	thyroid peroxidase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139633	TPO	thyroid peroxidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139633	TPO	thyroid peroxidase	gene	DOID:630	genetic disease		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12139633	TPO	thyroid peroxidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12139633	TPO	thyroid peroxidase	gene	DOID:9004283	Transplant Rejection		ISO	RGD:735786	D	RGD:9068941	20200609	RGD			PMID:19506389|REF_RGD_ID:7207487
12139633	TPO	thyroid peroxidase	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735786	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11874711|PMID:15745925|PMID:17381485|PMID:21490078|PMID:25741868|PMID:28492532|PMID:33368191|PMID:34539567
12139633	TPO	thyroid peroxidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12139653	PON2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;DNA:missense mutation:cds:p.S311C (human)	PMID:12778447|REF_RGD_ID:2313491
12139653	PON2	paraoxonase 2	gene	DOID:0051061	stroke		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		large vessel disease (LVD) stroke;DNA:missense mutation:cds:p.C311S (human)	PMID:17406108|REF_RGD_ID:1642614
12139653	PON2	paraoxonase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1320575	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12139653	PON2	paraoxonase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1309954	D	RGD:9068941	20200609	RGD			PMID:22536512|REF_RGD_ID:8661257
12139653	PON2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple	PMID:16319130|REF_RGD_ID:5509926
12139653	PON2	paraoxonase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:11803456|REF_RGD_ID:1580219
12139653	PON2	paraoxonase 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1320575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19152805
12139653	PON2	paraoxonase 2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1320575	D	RGD:9068941	20200806	RGD		DNA:missense mutation:cds:p.S311C (human)	PMID:16776623|REF_RGD_ID:1642625
12139653	PON2	paraoxonase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs11981433, association with LD block containing both PON3 and PON2	PMID:16822964|REF_RGD_ID:5509925
12139653	PON2	paraoxonase 2	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:12454802|REF_RGD_ID:1580217
12139653	PON2	paraoxonase 2	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs11545941, rs6954345) (human)	PMID:20458436|REF_RGD_ID:401794454
12139653	PON2	paraoxonase 2	gene	DOID:8725	vascular dementia		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:11803456|REF_RGD_ID:1580219
12139653	PON2	paraoxonase 2	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C311S (human)	PMID:9443862|REF_RGD_ID:1580216
12139653	PON2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 1 diabetes mellitus;DNA:missense mutation:cds:p.C311S (human)	PMID:11918623|REF_RGD_ID:1580218
12139653	PON2	paraoxonase 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with type 2 diabetes mellitus;DNA:polymorphisms:multiple	PMID:11206400|REF_RGD_ID:2313492
12139653	PON2	paraoxonase 2	gene	DOID:9002910	Hearing Loss, Noise-Induced	susceptibility	ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:23327886|REF_RGD_ID:8661240
12139653	PON2	paraoxonase 2	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:1320575	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
12139653	PON2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S311C (human)	PMID:18776646|REF_RGD_ID:2313490
12139653	PON2	paraoxonase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320575	D	RGD:9068941	20200609	RGD		associated with Diabetic Retinopathy;DNA:missense mutation:cds:p.C310S (human)	PMID:10677395|REF_RGD_ID:8547560
12139653	PON2	paraoxonase 2	gene	DOID:9970	obesity		ISO	RGD:1309954	D	RGD:9068941	20200609	RGD		protein:increased expression:white adipose tissue	PMID:21365757|REF_RGD_ID:8661255
12139666	EPO	erythropoietin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16449733|PMID:16731534|PMID:17924179|PMID:17928571
12139666	EPO	erythropoietin	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23294128|REF_RGD_ID:10400895
12139666	EPO	erythropoietin	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12670338|PMID:16076383
12139666	EPO	erythropoietin	gene	DOID:0060903	thrombosis		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14979412|PMID:25013951
12139666	EPO	erythropoietin	gene	DOID:0080290	familial erythrocytosis 5		ISO	RGD:735849	D	RGD:7240710	20190315	OMIM			
12139666	EPO	erythropoietin	gene	DOID:0080290	familial erythrocytosis 5		ISO	RGD:735849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ERYTHROCYTOSIS, FAMILIAL, 5	
12139666	EPO	erythropoietin	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22004348|PMID:23813967|REF_RGD_ID:10395389|REF_RGD_ID:10400882
12139666	EPO	erythropoietin	gene	DOID:1074	kidney failure		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22013135
12139666	EPO	erythropoietin	gene	DOID:10763	hypertension		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10694834|PMID:1516988
12139666	EPO	erythropoietin	gene	DOID:10808	gastric ulcer		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20723003
12139666	EPO	erythropoietin	gene	DOID:114	heart disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16707910
12139666	EPO	erythropoietin	gene	DOID:11713	diabetic angiopathy		ISO	RGD:735849	D	RGD:7240710	20180130	OMIM			
12139666	EPO	erythropoietin	gene	DOID:11713	diabetic angiopathy		ISO	RGD:735849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2	
12139666	EPO	erythropoietin	gene	DOID:1184	nephrotic syndrome	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23128049|REF_RGD_ID:11041725
12139666	EPO	erythropoietin	gene	DOID:12241	beta thalassemia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16225658
12139666	EPO	erythropoietin	gene	DOID:12450	pancytopenia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9051142
12139666	EPO	erythropoietin	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12053072
12139666	EPO	erythropoietin	gene	DOID:1289	neurodegenerative disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15816862
12139666	EPO	erythropoietin	gene	DOID:1289	neurodegenerative disease	susceptibility	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:16339796|REF_RGD_ID:10400893
12139666	EPO	erythropoietin	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:24630601|REF_RGD_ID:11041658
12139666	EPO	erythropoietin	gene	DOID:13268	porphyria		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus,nephrosclerosis	PMID:17435269|REF_RGD_ID:2313839
12139666	EPO	erythropoietin	gene	DOID:1389	polyneuropathy		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17010629
12139666	EPO	erythropoietin	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:19727138|REF_RGD_ID:10400901
12139666	EPO	erythropoietin	gene	DOID:1561	cognitive disorder		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20833152
12139666	EPO	erythropoietin	gene	DOID:1588	thrombocytopenia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8260696
12139666	EPO	erythropoietin	gene	DOID:1612	breast cancer		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		protein:increased expression:breast:	PMID:12118093|REF_RGD_ID:11041669
12139666	EPO	erythropoietin	gene	DOID:1657	ventricular septal defect		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19337937
12139666	EPO	erythropoietin	gene	DOID:1686	glaucoma		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		protein:increased expression:retina:	PMID:17554621|REF_RGD_ID:11041649
12139666	EPO	erythropoietin	gene	DOID:1686	glaucoma		ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:17554621|PMID:19741249|REF_RGD_ID:10401071|REF_RGD_ID:11041649
12139666	EPO	erythropoietin	gene	DOID:178	vascular disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25013951
12139666	EPO	erythropoietin	gene	DOID:182	calcinosis		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12148126
12139666	EPO	erythropoietin	gene	DOID:1824	status epilepticus		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16679645|PMID:17166730
12139666	EPO	erythropoietin	gene	DOID:1909	melanoma		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15743794
12139666	EPO	erythropoietin	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:22282883|REF_RGD_ID:10401060
12139666	EPO	erythropoietin	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:24702327|REF_RGD_ID:11041699
12139666	EPO	erythropoietin	gene	DOID:2355	anemia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10506726|PMID:10713657|PMID:11245434|PMID:11273875|PMID:11454181|PMID:11569724|PMID:11828949|PMID:11981781|PMID:12670280|PMID:12713065|PMID:12820454|PMID:12897097|PMID:12899718|PMID:14568602|PMID:14706663|PMID:15160343|PMID:1516988|PMID:15232364|PMID:15660393|PMID:1574960|PMID:16434484|PMID:16511603|PMID:16637862|PMID:16707910|PMID:16798232|PMID:16949463|PMID:16970215|PMID:16970600|PMID:17058596|PMID:17168855|PMID:17180133|PMID:17288690|PMID:17397412|PMID:17409018|PMID:17559739|PMID:18265628|PMID:18403296|PMID:18611800|PMID:18695134|PMID:1893952|PMID:19015056|PMID:19212639|PMID:19787831|PMID:1982298|PMID:20189893|PMID:20303990|PMID:21860424|PMID:2186273|PMID:2206997|PMID:22174104|PMID:23077460|PMID:7529132|PMID:7602351|PMID:7631396|PMID:7732690|PMID:8202718|PMID:8250662|PMID:8260696|PMID:8418619|PMID:8504984|PMID:9118049|PMID:9616293|PMID:9617462|PMID:9743294
12139666	EPO	erythropoietin	gene	DOID:2355	anemia		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:15855576|REF_RGD_ID:2313896
12139666	EPO	erythropoietin	gene	DOID:2355	anemia		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathies;protein:decreased expression:serum	PMID:16681558|REF_RGD_ID:2313843
12139666	EPO	erythropoietin	gene	DOID:3021	acute kidney failure		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21847101|PMID:24561306
12139666	EPO	erythropoietin	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22209169|PMID:22235348|REF_RGD_ID:10400913|REF_RGD_ID:11041660
12139666	EPO	erythropoietin	gene	DOID:3070	high grade glioma		ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:21749867|REF_RGD_ID:10400910
12139666	EPO	erythropoietin	gene	DOID:331	central nervous system disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15816862
12139666	EPO	erythropoietin	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:17368721|REF_RGD_ID:10395391
12139666	EPO	erythropoietin	gene	DOID:3393	coronary artery disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25245553
12139666	EPO	erythropoietin	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:20547143|PMID:20833153|REF_RGD_ID:10400898|REF_RGD_ID:10401066
12139666	EPO	erythropoietin	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27880037
12139666	EPO	erythropoietin	gene	DOID:3891	placental insufficiency	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:20809703|REF_RGD_ID:10400897
12139666	EPO	erythropoietin	gene	DOID:4449	macular retinal edema	severity	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:20664492|REF_RGD_ID:10400883
12139666	EPO	erythropoietin	gene	DOID:4676	uremia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12675867
12139666	EPO	erythropoietin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:23052842|REF_RGD_ID:10400912
12139666	EPO	erythropoietin	gene	DOID:5327	retinal detachment		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:retina:	PMID:17882708|REF_RGD_ID:11041648
12139666	EPO	erythropoietin	gene	DOID:5327	retinal detachment	treatment	ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:22020175|REF_RGD_ID:10401069
12139666	EPO	erythropoietin	gene	DOID:557	kidney disease		ISO	RGD:735849	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: therapeutic	PMID:20606417|PMID:32909846
12139666	EPO	erythropoietin	gene	DOID:583	hemolytic anemia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10733367|PMID:16629641|PMID:20446436
12139666	EPO	erythropoietin	gene	DOID:5844	myocardial infarction		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19337937
12139666	EPO	erythropoietin	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:21415704|REF_RGD_ID:10400907
12139666	EPO	erythropoietin	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction	PMID:20139114|REF_RGD_ID:10401073
12139666	EPO	erythropoietin	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:10531	D	RGD:9068941	20200609	RGD		Protein: decreased expression:skin	PMID:19826948|REF_RGD_ID:2313831
12139666	EPO	erythropoietin	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22559233|REF_RGD_ID:10400914
12139666	EPO	erythropoietin	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:735849	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12139666	EPO	erythropoietin	gene	DOID:783	end stage renal disease		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16707910
12139666	EPO	erythropoietin	gene	DOID:8466	retinal degeneration	treatment	ISO	RGD:10531	D	RGD:9068941	20200609	RGD			PMID:21421996|REF_RGD_ID:10400896
12139666	EPO	erythropoietin	gene	DOID:8725	vascular dementia		ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:17037738|REF_RGD_ID:10400891
12139666	EPO	erythropoietin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:-1125T>G(rs1617640)(human)	PMID:18458324|REF_RGD_ID:2313838
12139666	EPO	erythropoietin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18235022|REF_RGD_ID:2313890
12139666	EPO	erythropoietin	gene	DOID:8947	diabetic retinopathy		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,vitreous body	PMID:18670462|REF_RGD_ID:2313837
12139666	EPO	erythropoietin	gene	DOID:8947	diabetic retinopathy	susceptibility	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24508793|REF_RGD_ID:10400906
12139666	EPO	erythropoietin	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22196867|REF_RGD_ID:10401074
12139666	EPO	erythropoietin	gene	DOID:9000046	Poisoning		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15727166
12139666	EPO	erythropoietin	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18156309
12139666	EPO	erythropoietin	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23907045|REF_RGD_ID:10400909
12139666	EPO	erythropoietin	gene	DOID:9000656	Penetrating Wounds	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:21326299|REF_RGD_ID:10401063
12139666	EPO	erythropoietin	gene	DOID:9000892	Fetal Distress		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain, serum	PMID:22099204|REF_RGD_ID:10401064
12139666	EPO	erythropoietin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16699298
12139666	EPO	erythropoietin	gene	DOID:9000998	Brain Injuries		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:18093155|REF_RGD_ID:2293059
12139666	EPO	erythropoietin	gene	DOID:9000998	Brain Injuries		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20833152
12139666	EPO	erythropoietin	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23063952|REF_RGD_ID:10401061
12139666	EPO	erythropoietin	gene	DOID:9001542	Albuminuria		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased expression:urine,serum	PMID:16921186|REF_RGD_ID:2313841
12139666	EPO	erythropoietin	gene	DOID:9001553	Spinal Cord Compression		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		protein:increased expression:neuron, endothelium, glia:	PMID:15792521|REF_RGD_ID:11041719
12139666	EPO	erythropoietin	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:20539178|REF_RGD_ID:10401059
12139666	EPO	erythropoietin	gene	DOID:9001981	Weight Loss		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8260696
12139666	EPO	erythropoietin	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:25769561|REF_RGD_ID:15090809
12139666	EPO	erythropoietin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:-1125T>G(rs1617640)(human)	PMID:18458324|REF_RGD_ID:2313838
12139666	EPO	erythropoietin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		Protein:decreased expression:serum	PMID:19619913|REF_RGD_ID:2313832
12139666	EPO	erythropoietin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;	PMID:19356735|REF_RGD_ID:2313833
12139666	EPO	erythropoietin	gene	DOID:9002331	Knee Osteoarthritis	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:25422652|REF_RGD_ID:10400892
12139666	EPO	erythropoietin	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18382691
12139666	EPO	erythropoietin	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17010629|PMID:17166730|PMID:19497871|PMID:30837834
12139666	EPO	erythropoietin	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:24034924|REF_RGD_ID:10400911
12139666	EPO	erythropoietin	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22156696|REF_RGD_ID:10401072
12139666	EPO	erythropoietin	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12670338|PMID:17547733
12139666	EPO	erythropoietin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735849	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12139666	EPO	erythropoietin	gene	DOID:9004086	AIDS Dementia Complex	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:20818790|REF_RGD_ID:10395393
12139666	EPO	erythropoietin	gene	DOID:9004303	Tubulointerstitial Fibrosis	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22678524|REF_RGD_ID:10401065
12139666	EPO	erythropoietin	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16699298
12139666	EPO	erythropoietin	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16699298
12139666	EPO	erythropoietin	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Pregnancy in Diabetes;protein:increased expression:amniotic fluid	PMID:15502930|REF_RGD_ID:2313897
12139666	EPO	erythropoietin	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:multiple	PMID:19840250|REF_RGD_ID:10395370
12139666	EPO	erythropoietin	gene	DOID:9004756	Brain Hypoxia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:21116766|REF_RGD_ID:10400899
12139666	EPO	erythropoietin	gene	DOID:9004756	Brain Hypoxia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:24344874|REF_RGD_ID:10401067
12139666	EPO	erythropoietin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18156309
12139666	EPO	erythropoietin	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:12118093|REF_RGD_ID:11041669
12139666	EPO	erythropoietin	gene	DOID:9005372	Inflammation		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21497595
12139666	EPO	erythropoietin	gene	DOID:9005474	Experimental Sarcoma		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9743294
12139666	EPO	erythropoietin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2559	D	RGD:9068941	20200609	RGD		mRNA:increased expression:Schwann cell:	PMID:24673486|REF_RGD_ID:11041670
12139666	EPO	erythropoietin	gene	DOID:9005749	Necrosis	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Ischemia	PMID:22924373|REF_RGD_ID:8655615
12139666	EPO	erythropoietin	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23214195|REF_RGD_ID:10400903
12139666	EPO	erythropoietin	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:19961832|PMID:25581532|REF_RGD_ID:10401077|REF_RGD_ID:11041698
12139666	EPO	erythropoietin	gene	DOID:9006617	Fatigue		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18695134
12139666	EPO	erythropoietin	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:2559	D	RGD:9068941	20200609	RGD			PMID:20361946|REF_RGD_ID:10400894
12139666	EPO	erythropoietin	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30944280
12139666	EPO	erythropoietin	gene	DOID:9006839	Anastomotic Leak	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:22149012|REF_RGD_ID:10400902
12139666	EPO	erythropoietin	gene	DOID:9006924	Cardiogenic Shock		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19337937
12139666	EPO	erythropoietin	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:2559	D	RGD:9068941	20241114	RGD			PMID:23518641|REF_RGD_ID:10401076
12139666	EPO	erythropoietin	gene	DOID:9007199	Paraneoplastic Syndromes		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10713657
12139666	EPO	erythropoietin	gene	DOID:9007622	Acute Subdural Hematoma	treatment	ISO	RGD:735849	D	RGD:9068941	20200609	RGD			PMID:23415790|REF_RGD_ID:10401075
12139666	EPO	erythropoietin	gene	DOID:9009142	Diamond-Blackfan Anemia-Like		ISO	RGD:735849	D	RGD:7240710	20190315	OMIM			
12139666	EPO	erythropoietin	gene	DOID:9009142	Diamond-Blackfan Anemia-Like		ISO	RGD:735849	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia-like	
12139666	EPO	erythropoietin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:16936148|REF_RGD_ID:2313840
12139666	EPO	erythropoietin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:16911620|REF_RGD_ID:2313842
12139666	EPO	erythropoietin	gene	DOID:9477	pulmonary embolism		ISO	RGD:735849	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12670338
12139666	EPO	erythropoietin	gene	DOID:9743	diabetic neuropathy		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;	PMID:19244253|REF_RGD_ID:2313834
12139666	EPO	erythropoietin	gene	DOID:9993	hypoglycemia		ISO	RGD:735849	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:plasma	PMID:19211168|REF_RGD_ID:2313835
12139673	XPO1	exportin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139673	XPO1	exportin 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:735365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12139673	XPO1	exportin 1	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		protein:increased expression:colorectum (human)	PMID:31870117|REF_RGD_ID:151665794
12139673	XPO1	exportin 1	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:735365	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	PMID:25741868
12139673	XPO1	exportin 1	gene	DOID:10534	stomach cancer		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139673	XPO1	exportin 1	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		protein:increased expression:stomach (human)	PMID:31569391|REF_RGD_ID:151665793
12139673	XPO1	exportin 1	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		protein:increased expression:stomach (human)	PMID:27714846|REF_RGD_ID:151667434
12139673	XPO1	exportin 1	gene	DOID:1059	intellectual disability		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:40819229
12139673	XPO1	exportin 1	gene	DOID:10907	microcephaly		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:40819229
12139673	XPO1	exportin 1	gene	DOID:1115	sarcoma		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139673	XPO1	exportin 1	gene	DOID:12849	autistic disorder		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:40819229
12139673	XPO1	exportin 1	gene	DOID:1324	lung cancer		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139673	XPO1	exportin 1	gene	DOID:13938	amenorrhea		ISO	RGD:735365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12139673	XPO1	exportin 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27312238|PMID:29533785|PMID:31285298|PMID:35101336
12139673	XPO1	exportin 1	gene	DOID:1793	pancreatic cancer	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		protein:increased expression:pancreas (human)	PMID:20003838|REF_RGD_ID:151665797
12139673	XPO1	exportin 1	gene	DOID:1826	epilepsy		ISO	RGD:735365	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12139673	XPO1	exportin 1	gene	DOID:1909	melanoma		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139673	XPO1	exportin 1	gene	DOID:3717	gastric adenocarcinoma	ameliorates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		human cell line in a mouse model	PMID:30115935|REF_RGD_ID:151665802
12139673	XPO1	exportin 1	gene	DOID:3717	gastric adenocarcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		protein:decreased expression:stomach (human)	PMID:28373767|REF_RGD_ID:151667432
12139673	XPO1	exportin 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:735365	D	RGD:9068941	20220408	RGD		mRNA, protein:increased expression:epithelium of esophagus (human)	PMID:24898882|REF_RGD_ID:151667431
12139673	XPO1	exportin 1	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		protein:increased expression:esophagus (human)	PMID:25148895|REF_RGD_ID:151667436
12139673	XPO1	exportin 1	gene	DOID:3905	lung carcinoma	ameliorates	ISO	RGD:732925	D	RGD:9068941	20220408	RGD		human cell line in a mouse model	PMID:25629636|REF_RGD_ID:11058563
12139673	XPO1	exportin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12139673	XPO1	exportin 1	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		human cell line in a mouse model	PMID:31113936|REF_RGD_ID:151665798
12139673	XPO1	exportin 1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		human cell line in a mouse model	PMID:24946002|REF_RGD_ID:151667438
12139673	XPO1	exportin 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		circRNA:increased expression:lung (human)	PMID:33268793|REF_RGD_ID:151665799
12139673	XPO1	exportin 1	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		mRNA:increased expression:lung (human)	PMID:23639940|REF_RGD_ID:151665801
12139673	XPO1	exportin 1	gene	DOID:4362	cervical cancer		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139673	XPO1	exportin 1	gene	DOID:4682	extrahepatic bile duct carcinoma	disease_progression	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		protein:increased expression:extrahepatic bile duct (human)	PMID:27279267|REF_RGD_ID:151665800
12139673	XPO1	exportin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735365	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139673	XPO1	exportin 1	gene	DOID:5517	stomach carcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		protein:increased expression:stomach (human)	PMID:24026662|REF_RGD_ID:151667437
12139673	XPO1	exportin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139673	XPO1	exportin 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:735365	D	RGD:9068941	20220407	RGD		human cell line in a mouse model	PMID:25030088|REF_RGD_ID:151665796
12139673	XPO1	exportin 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		mRNA:increased expression:liver (human)	PMID:31371628|REF_RGD_ID:151667441
12139673	XPO1	exportin 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:620517	D	RGD:9068941	20220408	RGD			PMID:27013579|REF_RGD_ID:151667433
12139673	XPO1	exportin 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12139673	XPO1	exportin 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12139673	XPO1	exportin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139673	XPO1	exportin 1	gene	DOID:9007661	Dwarfism		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:40819229
12139673	XPO1	exportin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139673	XPO1	exportin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139673	XPO1	exportin 1	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:735365	D	RGD:9068941	20220408	RGD		human cell line in a mouse model	PMID:26603256|PMID:33745946|REF_RGD_ID:151665795|REF_RGD_ID:151667439
12139711	RLF	RLF zinc finger	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139711	RLF	RLF zinc finger	gene	DOID:1115	sarcoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139711	RLF	RLF zinc finger	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12139711	RLF	RLF zinc finger	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139711	RLF	RLF zinc finger	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139723	ASF1A	anti-silencing function 1A histone chaperone	gene	DOID:1909	melanoma		ISO	RGD:1323657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:1324	lung cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:3275	thymoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139731	HSPH1	heat shock protein family H (Hsp110) member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:0050567	orofacial cleft		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft | ClinVar Annotator: match by term: Orofacial clefting	PMID:22813217|PMID:23806086|PMID:26963285|PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:0050591	tooth agenesis		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis	PMID:22813217|PMID:23033978|PMID:23806086|PMID:25741868|PMID:26963285|PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:0080074	neural tube defect		ISO	RGD:1312374	D	RGD:9068941	20220825	MouseDO		OMIM:182940 | OMIM:301410 | OMIM:601634	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:10126	keratoconus		ISO	RGD:1312373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:10283	prostate cancer		ISO	RGD:1312373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12139753	LRP6	LDL receptor related protein 6	gene	DOID:10283	prostate cancer		ISO	RGD:1312373	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:10907	microcephaly		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12139753	LRP6	LDL receptor related protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:1115	sarcoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:1324	lung cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:1909	melanoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:2030	anxiety disorder		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:3275	thymoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:4362	cervical cancer		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1312373	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:630	genetic disease		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26387593|PMID:28492532|PMID:33391533|PMID:34593752
12139753	LRP6	LDL receptor related protein 6	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1312373	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868|PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:1312373	D	RGD:9068941	20200609	RGD			PMID:12660824|REF_RGD_ID:2298724
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1312374	D	RGD:9068941	20200609	RGD			PMID:18006602|REF_RGD_ID:4110127
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9002189	High Myopia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1312373	D	RGD:7240710	20180130	OMIM			
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1312373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2 | ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2	PMID:23703864|PMID:25741868|PMID:28492532
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1312373	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds	PMID:17332414|REF_RGD_ID:2298725
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9006728	Triple Negative Breast Neoplasms		ISO	RGD:1312373	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24552774
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9007661	Dwarfism		ISO	RGD:1312373	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9008283	Selective Tooth Agenesis 7		ISO	RGD:1312373	D	RGD:7240710	20180130	OMIM			
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9008283	Selective Tooth Agenesis 7		ISO	RGD:1312373	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRP6-related condition | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 7 | ClinVar Annotator: match by term: Tooth agenesis, selective, 7	PMID:23033978|PMID:25741868|PMID:26387593|PMID:28492532|PMID:34306029|PMID:34593752|PMID:34834569
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139753	LRP6	LDL receptor related protein 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:1312374	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0060058	lymphoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070131	autosomal dominant cutis laxa 3		ISO	RGD:1350073	D	RGD:7240710	20180130	OMIM			
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070131	autosomal dominant cutis laxa 3		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cutis laxa, autosomal dominant 3	PMID:11092761|PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:27023906|PMID:28228640|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:34954732|PMID:35089622|PMID:35207755|PMID:35464835|PMID:35499206|PMID:36239107|PMID:9536098
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070132	autosomal recessive cutis laxa type IIIA		ISO	RGD:1350073	D	RGD:7240710	20180130	OMIM			
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070132	autosomal recessive cutis laxa type IIIA		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA | ClinVar Annotator: match by term: Cutis laxa-corneal clouding-oligophrenia syndrome | ClinVar Annotator: match by term: DE BARSY SYNDROME A	PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25326637|PMID:25741868|PMID:26026163|PMID:26297557|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31742715|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:35464835|PMID:35499206|PMID:36067040|PMID:9536098
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070142	autosomal dominant cutis laxa		ISO	RGD:1350073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070143	autosomal recessive cutis laxa type III		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: de Barsy syndrome	PMID:11092761|PMID:16199547|PMID:17576681|PMID:21739576|PMID:22411858|PMID:23963297|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297557|PMID:26297558|PMID:27023906|PMID:28228640|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:30244529|PMID:31402623|PMID:31413120|PMID:31785789|PMID:32017139|PMID:32065947|PMID:32342562|PMID:32371413|PMID:33144682|PMID:34680056|PMID:34954732|PMID:35089622|PMID:35207755|PMID:35464835|PMID:35499206|PMID:36239107|PMID:9536098
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0070297	primary microcephaly		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25077174|PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0110810	hereditary spastic paraplegia 5A		ISO	RGD:1350073	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 5A	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:7240710	20180130	OMIM			
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0110824	hereditary spastic paraplegia 9A		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 9A | ClinVar Annotator: match by term: SPASTIC PARAPARESIS WITH AMYOTROPHY, CATARACTS, AND GASTROESOPHAGEAL REFLUX | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 9A, autosomal dominant	PMID:25077174|PMID:25741868|PMID:26026163|PMID:26297558|PMID:26320891|PMID:26829900|PMID:28492532|PMID:31402623|PMID:31413120|PMID:32065947|PMID:34680056
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0110825	hereditary spastic paraplegia 9B		ISO	RGD:1350073	D	RGD:7240710	20180130	OMIM			
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:0110825	hereditary spastic paraplegia 9B		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive complex spastic paraplegia type 9B | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 9b, autosomal recessive	PMID:17576681|PMID:21739576|PMID:24913064|PMID:25077174|PMID:25741868|PMID:26026163|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:31402623|PMID:31413120|PMID:32065947|PMID:32798076|PMID:34680056|PMID:9536098
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:10534	stomach cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1059	intellectual disability		ISO	RGD:1350073	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:10907	microcephaly		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1115	sarcoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:11162	respiratory failure		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:11830	myopia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1283	enterocele		ISO	RGD:1350073	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	PMID:26320891|REF_RGD_ID:13434923
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:12849	autistic disorder		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1324	lung cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1596	depressive disorder		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression | ClinVar Annotator: match by term: Depressivity	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1824	status epilepticus		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1826	epilepsy		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25077174|PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1909	melanoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:1924	hypogonadism		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:219	colon cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:17576681|PMID:25741868|PMID:26026163|PMID:28492532|PMID:9536098
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25077174|PMID:25741868|PMID:28492532|PMID:31413120|PMID:32065947|PMID:34680056
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:2841	asthma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:3275	thymoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1350073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:480	movement disease		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350073	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:540	strabismus		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:543	dystonia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25077174|PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:630	genetic disease		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:21739576|PMID:24913064|PMID:25741868|PMID:26026163|PMID:26297558|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212|PMID:31402623|PMID:35464835|PMID:35499206|PMID:9536098|PMID:9973297
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:83	cataract		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cataract | ClinVar Annotator: match by term: Cataracts	PMID:25741868|PMID:28228640
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1350073	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9001722	Dysarthria		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9001733	Tinnitus		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9001734	Neurocutaneous Syndromes		ISO	RGD:1350073	D	RGD:9068941	20200609	RGD		DNA:missense mutation;exon:2350C>T(p.H784Y)(human)	PMID:18478038|REF_RGD_ID:13439711
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1350073	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)	PMID:26320891|REF_RGD_ID:13434923
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9003507	Premature Birth		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9003539	Hyperacusis		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9005077	Joint Instability		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1350073	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16199547|PMID:21739576|PMID:24913064|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:21739576|PMID:24913064|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28604674|PMID:29915212
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9007736	Vertigo		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9008023	Memory Disorders		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1350073	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9008606	Corneal Opacity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal opacity	PMID:25741868
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9834	hyperopia		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12139784	ALDH18A1	aldehyde dehydrogenase 18 family member A1	gene	DOID:9970	obesity		ISO	RGD:1350073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:3275	thymoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349981	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139815	TACC2	transforming acidic coiled-coil containing protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139854	FRMD5	FERM domain containing 5	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1557005	D	RGD:9068941	20240328	MouseDO			
12139854	FRMD5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:7240710	20221102	OMIM			
12139854	FRMD5	FERM domain containing 5	gene	DOID:0081275	neurodevelopmental disorder with eye movement abnormalities and ataxia		ISO	RGD:1605911	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: FRMD5-related condition | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH EYE MOVEMENT ABNORMALITIES AND ATAXIA | ClinVar Annotator: match by term: Neurodevelopmental disorder with eye movement abnormalities and ataxia	PMID:25741868|PMID:36206744
12139854	FRMD5	FERM domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139854	FRMD5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868|PMID:36206744
12139854	FRMD5	FERM domain containing 5	gene	DOID:1059	intellectual disability		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, borderline | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:10907	microcephaly		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:1279	ocular motility disease		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Opsoclonus	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139854	FRMD5	FERM domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139854	FRMD5	FERM domain containing 5	gene	DOID:4428	dyslexia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dyslexia	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1605911	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139854	FRMD5	FERM domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139854	FRMD5	FERM domain containing 5	gene	DOID:630	genetic disease		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12139854	FRMD5	FERM domain containing 5	gene	DOID:6364	migraine		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Migraine	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9000053	Headache		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9000495	Tremor		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Limb tremor	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9004369	Hypesthesia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoesthesia	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12139854	FRMD5	FERM domain containing 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139854	FRMD5	FERM domain containing 5	gene	DOID:9007722	Myoclonus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9007892	Tics		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tics	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12139854	FRMD5	FERM domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139854	FRMD5	FERM domain containing 5	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605911	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Rotary nystagmus	PMID:25741868
12139883	TRMT13	tRNA methyltransferase 13 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139883	TRMT13	tRNA methyltransferase 13 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12139883	TRMT13	tRNA methyltransferase 13 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1604003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139883	TRMT13	tRNA methyltransferase 13 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139883	TRMT13	tRNA methyltransferase 13 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12139894	C7H1orf105	chromosome 7 C1orf105 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603371	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139894	C7H1orf105	chromosome 7 C1orf105 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139894	C7H1orf105	chromosome 7 C1orf105 homolog	gene	DOID:6039	uveal melanoma		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12139894	C7H1orf105	chromosome 7 C1orf105 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603371	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139913	DAD1	defender against cell death 1	gene	DOID:1909	melanoma		ISO	RGD:1350029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139913	DAD1	defender against cell death 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1350029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12139913	DAD1	defender against cell death 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139913	DAD1	defender against cell death 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350029	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139920	SLC25A43	solute carrier family 25 member 43	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139920	SLC25A43	solute carrier family 25 member 43	gene	DOID:3275	thymoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139920	SLC25A43	solute carrier family 25 member 43	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139920	SLC25A43	solute carrier family 25 member 43	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139920	SLC25A43	solute carrier family 25 member 43	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605262	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139929	STK38	serine/threonine kinase 38	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139929	STK38	serine/threonine kinase 38	gene	DOID:1115	sarcoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139929	STK38	serine/threonine kinase 38	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319806	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
12139929	STK38	serine/threonine kinase 38	gene	DOID:1909	melanoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12139929	STK38	serine/threonine kinase 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139929	STK38	serine/threonine kinase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139929	STK38	serine/threonine kinase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139929	STK38	serine/threonine kinase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139955	RAG1	recombination activating 1	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1317876	D	RGD:7240710	20180130	OMIM			
12139955	RAG1	recombination activating 1	gene	DOID:0060010	Omenn syndrome		ISO	RGD:1317876	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: OMENN SYNDROME | ClinVar Annotator: match by term: Omenn syndrome | ClinVar Annotator: match by term: Severe combined immunodeficiency with hypereosinophilia	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:16211094|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18442948|PMID:19178939|PMID:19333736|PMID:19830075|PMID:21131235|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24290284|PMID:24331380|PMID:24418478|PMID:25104208|PMID:25516070|PMID:25739914|PMID:25741868|PMID:26457731|PMID:26596586|PMID:26996199|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28747913|PMID:28769923|PMID:28783691|PMID:30877075|PMID:31031743|PMID:31130284|PMID:32655540|PMID:33117328|PMID:33193364|PMID:33954879|PMID:35902638|PMID:36279417|PMID:37475856|PMID:38240953|PMID:39720732|PMID:39792639|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0060011	recombinase activating gene 1 deficiency		ISO	RGD:1317876	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recombinase activating gene 1 deficiency	PMID:10891452|PMID:11121059|PMID:11313270|PMID:15908971|PMID:16960852|PMID:17572155|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24290284|PMID:24418478|PMID:25104208|PMID:25516070|PMID:25739914|PMID:25741868|PMID:26186701|PMID:26457731|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28769923|PMID:31980526|PMID:32655540|PMID:33193364|PMID:33954879|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0080915	histiocytic sarcoma		ISO	RGD:1317876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Histiocytic medullary reticulosis	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11908269|PMID:11971977|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18442948|PMID:19178939|PMID:19830075|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:25104208|PMID:25516070|PMID:25739914|PMID:25741868|PMID:25976673|PMID:26457731|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30778343|PMID:30877075|PMID:31130284|PMID:32000930|PMID:32655540|PMID:33193364|PMID:33954879|PMID:35902638|PMID:36279417|PMID:37475856|PMID:38240953|PMID:39720732|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		IAGP		D	RGD:12801476	20260418	OMIA		Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive	PMID:24799706|PMID:22704516|PMID:24973446|PMID:25437445|PMID:31878988|PMID:31722780|PMID:37596154|PMID:31060546|PMID:27118081|PMID:38770737|PMID:39289566|PMID:39272382|PMID:40019808|PMID:39866131|PMID:40394219|PMID:41890729|PMID:41958681
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:7240710	20180130	OMIM			
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	PMID:10891452|PMID:11133745|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:18701881|PMID:19178939|PMID:19458910|PMID:19912631|PMID:20956421|PMID:21184155|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:16276422|PMID:16960852|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:31503426|PMID:32447396|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18592361|PMID:18701881|PMID:19011808|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28492532|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31503426|PMID:32445296|PMID:32447396|PMID:33365035|PMID:33628209|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	PMID:10606976|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25516070|PMID:25707801|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:2682973|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31632441|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive	PMID:10606976|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:16211094|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18592361|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19011808|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19458910|PMID:19830075|PMID:19912631|PMID:20109747|PMID:20489056|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21664875|PMID:21771083|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25516070|PMID:25707801|PMID:25741868|PMID:25849362|PMID:25869295|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:2682973|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27609655|PMID:27713031|PMID:2808362|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:290284|PMID:29107076|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31503426|PMID:31632441|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32447396|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:35503492|PMID:35729272|PMID:37724703|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090013	severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive		ISO	RGD:1317876	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE | ClinVar Annotator: match by term: SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE | ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15908971|PMID:16211094|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17572155|PMID:17890453|PMID:18442948|PMID:18463379|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19458910|PMID:19830075|PMID:20956421|PMID:21131235|PMID:21502542|PMID:21625022|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25869295|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:27609655|PMID:28083621|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28769923|PMID:28783691|PMID:30877075|PMID:31130284|PMID:31980526|PMID:32000930|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33628209|PMID:33954879|PMID:34224223|PMID:34664192|PMID:35303369|PMID:35902638|PMID:36279417|PMID:37475856|PMID:38240953|PMID:38578360|PMID:39720732|PMID:39792639|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:0090014	severe combined immunodeficiency 104		ISO	RGD:1317876	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 104, SEVERE COMBINED	PMID:24033266|PMID:25741868|PMID:28492532
12139955	RAG1	recombination activating 1	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1317876	D	RGD:7240710	20180130	OMIM			
12139955	RAG1	recombination activating 1	gene	DOID:0112253	combined cellular and humoral immune defects with granulomas		ISO	RGD:1317876	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS | ClinVar Annotator: match by term: Combined cellular and humoral immune defects with granulomas | ClinVar Annotator: match by term: Combined immunodeficiency with skin granulomas	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:15696198|PMID:15908971|PMID:16211094|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18056378|PMID:18223550|PMID:18442948|PMID:18463379|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19458910|PMID:19763152|PMID:19830075|PMID:20109747|PMID:20307669|PMID:20956421|PMID:21131235|PMID:21184155|PMID:21502542|PMID:21625022|PMID:21664875|PMID:21771083|PMID:22406018|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24033266|PMID:24122031|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24817258|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26186701|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26689875|PMID:26829731|PMID:27095930|PMID:27301863|PMID:27484032|PMID:27609655|PMID:28083621|PMID:28109013|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28747913|PMID:28769923|PMID:28783691|PMID:28864286|PMID:29104089|PMID:29772310|PMID:30046960|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30858051|PMID:30877075|PMID:31031743|PMID:31130284|PMID:31520268|PMID:31632441|PMID:31980526|PMID:32000930|PMID:32373116|PMID:32445296|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33628209|PMID:33954879|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:35503492|PMID:35902638|PMID:36279417|PMID:36662455|PMID:37475856|PMID:38240953|PMID:39720732|PMID:39792639|PMID:41071379|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:10763	hypertension		ISO	RGD:619790	D	RGD:9068941	20200609	RGD			PMID:23364523|REF_RGD_ID:7207429
12139955	RAG1	recombination activating 1	gene	DOID:10907	microcephaly		ISO	RGD:1317876	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12139955	RAG1	recombination activating 1	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease	PMID:25741868|PMID:28492532|PMID:30877075|PMID:36279417
12139955	RAG1	recombination activating 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12139955	RAG1	recombination activating 1	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:1317876	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Bubble boy disease	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:17572155|PMID:17890453|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24290284|PMID:24406074|PMID:24418478|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:1317876	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Bubble boy disease | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18822103|PMID:19178939|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:28492532|PMID:28769923|PMID:28783691|PMID:30290665|PMID:30778343|PMID:30877075|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35303369|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:1317876	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Bubble boy disease	PMID:10635319|PMID:10701853|PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:11971977|PMID:12200379|PMID:16276422|PMID:16960852|PMID:17075247|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18463379|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19246248|PMID:19912631|PMID:20956421|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:23891352|PMID:24144642|PMID:24290284|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25741868|PMID:25869295|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:28492532|PMID:28769923|PMID:30290665|PMID:30307608|PMID:30778343|PMID:30877075|PMID:31632441|PMID:32445296|PMID:32655540|PMID:32888943|PMID:33365035|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35281013|PMID:35303369|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1317876	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:17572155|PMID:24144642|PMID:25741868|PMID:28109013|PMID:28492532|PMID:30290665|PMID:30858051|PMID:38578360|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:6132	bronchitis		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent bronchitis	PMID:11133745|PMID:14670978|PMID:16211094|PMID:16960852|PMID:18463379|PMID:24144642|PMID:24290284|PMID:25741868|PMID:26476733|PMID:26596586|PMID:27609655|PMID:28492532|PMID:28783691|PMID:33628209|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1317876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Severe Combined Immune Deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11520796|PMID:11908269|PMID:12200379|PMID:16960852|PMID:17075247|PMID:17572155|PMID:17890453|PMID:18442948|PMID:18463379|PMID:18701881|PMID:19178939|PMID:19458910|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24985406|PMID:25516070|PMID:25707801|PMID:25741868|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26829731|PMID:27301863|PMID:27609655|PMID:28492532|PMID:28623282|PMID:28769923|PMID:31130284|PMID:32670274|PMID:33628209|PMID:34224223|PMID:34664192|PMID:35303369|PMID:36279417|PMID:39792639|PMID:8810255|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:630	genetic disease		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12139955	RAG1	recombination activating 1	gene	DOID:83	cataract		ISO	RGD:1317876	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:11133745|PMID:11313270|PMID:18822103|PMID:19064334|PMID:21131235|PMID:21502542|PMID:24290284|PMID:24472623|PMID:25741868|PMID:28216420|PMID:28492532|PMID:32888943
12139955	RAG1	recombination activating 1	gene	DOID:9001542	Albuminuria		ISO	RGD:619790	D	RGD:9068941	20201211	RGD			PMID:23364523|REF_RGD_ID:7207429
12139955	RAG1	recombination activating 1	gene	DOID:9001542	Albuminuria	ameliorates	ISO	RGD:619790	D	RGD:9068941	20260129	RGD		as compare to SS rat	PMID:23364523|REF_RGD_ID:7207429
12139955	RAG1	recombination activating 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317876	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12139955	RAG1	recombination activating 1	gene	DOID:9003234	Hypertensive Nephropathy		ISO	RGD:619790	D	RGD:9068941	20200609	RGD			PMID:23364523|REF_RGD_ID:7207429
12139955	RAG1	recombination activating 1	gene	DOID:9003234	Hypertensive Nephropathy	ameliorates	ISO	RGD:619790	D	RGD:9068941	20210212	RGD			PMID:23364523|REF_RGD_ID:7207429
12139955	RAG1	recombination activating 1	gene	DOID:9004654	Immune Deficiency Disease		ISO	RGD:619790	D	RGD:9068941	20200609	RGD			PMID:29688994|REF_RGD_ID:13628403
12139955	RAG1	recombination activating 1	gene	DOID:9005774	Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity		ISO	RGD:1317876	D	RGD:7240710	20180130	OMIM			
12139955	RAG1	recombination activating 1	gene	DOID:9005774	Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity		ISO	RGD:1317876	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY | ClinVar Annotator: match by term: Combined immunodeficiency due to partial RAG1 deficiency	PMID:10891452|PMID:11121059|PMID:11133745|PMID:11213808|PMID:11313270|PMID:11908269|PMID:11971977|PMID:12200379|PMID:14670978|PMID:16211094|PMID:16960852|PMID:17075247|PMID:17176792|PMID:17476359|PMID:17572155|PMID:17890453|PMID:18442948|PMID:18463379|PMID:18701881|PMID:18768869|PMID:18822103|PMID:19064334|PMID:19178939|PMID:19458910|PMID:19830075|PMID:20956421|PMID:21131235|PMID:21502542|PMID:21664875|PMID:22424479|PMID:23085344|PMID:23122631|PMID:24144642|PMID:24290284|PMID:24331380|PMID:24406074|PMID:24418478|PMID:24472623|PMID:24985406|PMID:25104208|PMID:25516070|PMID:25707801|PMID:25739914|PMID:25741868|PMID:25849362|PMID:25976673|PMID:26457731|PMID:26476733|PMID:26596586|PMID:26829731|PMID:27301863|PMID:27484032|PMID:27609655|PMID:28083621|PMID:28216420|PMID:28492532|PMID:28623282|PMID:28769923|PMID:28783691|PMID:30307608|PMID:30877075|PMID:31130284|PMID:32000930|PMID:32445296|PMID:32655540|PMID:32670274|PMID:32888943|PMID:33193364|PMID:33628209|PMID:33954879|PMID:34224223|PMID:34664192|PMID:35303369|PMID:35482138|PMID:35902638|PMID:36279417|PMID:37475856|PMID:38240953|PMID:39720732|PMID:39792639|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1317876	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11133745|PMID:11313270|PMID:18822103|PMID:19064334|PMID:21131235|PMID:21502542|PMID:24290284|PMID:24472623|PMID:25741868|PMID:28216420|PMID:28492532|PMID:32888943
12139955	RAG1	recombination activating 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12139955	RAG1	recombination activating 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12139955	RAG1	recombination activating 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:11133745|PMID:14670978|PMID:16211094|PMID:16960852|PMID:18463379|PMID:24144642|PMID:24290284|PMID:25741868|PMID:26476733|PMID:26596586|PMID:27609655|PMID:28492532|PMID:28783691|PMID:33628209|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1317876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:11133745|PMID:14670978|PMID:16211094|PMID:16960852|PMID:18463379|PMID:24144642|PMID:24290284|PMID:25741868|PMID:26476733|PMID:26596586|PMID:27609655|PMID:28492532|PMID:28783691|PMID:33628209|PMID:9630231
12139955	RAG1	recombination activating 1	gene	DOID:9669	senile cataract		ISO	RGD:1317876	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Age-related cataract	PMID:11133745|PMID:11313270|PMID:18822103|PMID:19064334|PMID:21131235|PMID:21502542|PMID:24290284|PMID:24472623|PMID:25741868|PMID:28216420|PMID:28492532|PMID:32888943
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:1324	lung cancer		ISO	RGD:1605885	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605885	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139958	LARGE2	LARGE xylosyl- and glucuronyltransferase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605885	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12139979	SEMA3B	semaphorin 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12139979	SEMA3B	semaphorin 3B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12139979	SEMA3B	semaphorin 3B	gene	DOID:1115	sarcoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:302	substance abuse		ISO	RGD:1320778	D	RGD:9068941	20250717	RGD		mRNA:increased expression:brain	PMID:17205118|REF_RGD_ID:597830175
12139979	SEMA3B	semaphorin 3B	gene	DOID:3275	thymoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:5041	esophageal cancer		ISO	RGD:1320778	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12139979	SEMA3B	semaphorin 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12139979	SEMA3B	semaphorin 3B	gene	DOID:769	neuroblastoma		ISO	RGD:1320778	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17452250
12139979	SEMA3B	semaphorin 3B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1320778	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12139979	SEMA3B	semaphorin 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12139979	SEMA3B	semaphorin 3B	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1320778	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21933904
12139979	SEMA3B	semaphorin 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320778	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140002	CREB3L3	cAMP responsive element binding protein 3 like 3	gene	DOID:10534	stomach cancer		ISO	RGD:1317760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140002	CREB3L3	cAMP responsive element binding protein 3 like 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140002	CREB3L3	cAMP responsive element binding protein 3 like 3	gene	DOID:9003618	HYPERTRIGLYCERIDEMIA 2		ISO	RGD:1317760	D	RGD:7240710	20210818	OMIM			
12140002	CREB3L3	cAMP responsive element binding protein 3 like 3	gene	DOID:9003618	HYPERTRIGLYCERIDEMIA 2		ISO	RGD:1317760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CREB3L3-related condition | ClinVar Annotator: match by term: HYPERTRIGLYCERIDEMIA 2 | ClinVar Annotator: match by term: Hypertriglyceridemia 2	PMID:21666694|PMID:25741868|PMID:26427795|PMID:26764160|PMID:28492532|PMID:32041611|PMID:32580631|PMID:36325899
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1317848	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:0060058	lymphoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:1115	sarcoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:3275	thymoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1317848	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140017	PARD6B	par-6 family cell polarity regulator beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317848	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:1115	sarcoma		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:2983	anuria	treatment	ISO	RGD:735403	D	RGD:9068941	20201001	RGD			PMID:27782167|REF_RGD_ID:39128183
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:9000918	Disease Progression		ISO	RGD:735402	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140023	PRKAB1	protein kinase AMP-activated non-catalytic subunit beta 1	gene	DOID:9256	colorectal cancer		ISO	RGD:735402	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1352340	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:11832	visual epilepsy		ISO	RGD:1352340	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic neuropathy	PMID:25741868|PMID:28492532
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:1909	melanoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:3650	lactic acidosis		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:423	myopathy		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:630	genetic disease		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23392203
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9005834	Ependymomas		ISO	RGD:1352340	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007578	LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LETM1-associated clinical spectrum with predominant nervous system involvement	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007987	NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION		ISO	RGD:1352340	D	RGD:7240710	20221214	OMIM			
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9007987	NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LETM1-related condition | ClinVar Annotator: match by term: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION | ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	PMID:25741868|PMID:28492532
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1352340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14706454
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12140035	LETM1	leucine zipper and EF-hand containing transmembrane protein 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1352340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes	
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12140053	THYN1	thymocyte nuclear protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:0070491	mitochondrial complex IV deficiency nuclear type 1		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:39214134
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:7240710	20201111	OMIM			
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:0070493	mitochondrial complex IV deficiency nuclear type 4		ISO	RGD:1344696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4 | ClinVar Annotator: match by term: Mitochondrial complex IV deficiency, nuclear type 4 | ClinVar Annotator: match by term: SCO1-related condition	PMID:11013136|PMID:23878101|PMID:25741868|PMID:28492532
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:114	heart disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:1324	lung cancer		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:3275	thymoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:3652	Leigh disease		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1344696	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1344696	D	RGD:9068941	20260604	RGD			PMID:11013136|REF_RGD_ID:1599513
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:3762	cytochrome-c oxidase deficiency disease		ISO	RGD:1617578	D	RGD:9068941	20260604	MouseDO		OMIM:220110	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:409	liver disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23345593
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:630	genetic disease		ISO	RGD:1344696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17182746
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1344696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864674
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140065	SCO1	synthesis of cytochrome C oxidase 1	gene	DOID:936	brain disease		ISO	RGD:1344696	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Infantile encephalopathy	PMID:25741868|PMID:28492532
12140074	KRT38	keratin 38	gene	DOID:1324	lung cancer		ISO	RGD:1350539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140074	KRT38	keratin 38	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350539	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140074	KRT38	keratin 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1350539	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic uremic syndrome | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:23274426|PMID:23542698|PMID:24511134|PMID:25135762|PMID:25443527|PMID:25741868|PMID:25854283|PMID:26018111|PMID:28056875|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29500241|PMID:29590070|PMID:29610995|PMID:29869118|PMID:32091318|PMID:32386968|PMID:32413569|PMID:32424742|PMID:32838746|PMID:33238263|PMID:34267444|PMID:36113832|PMID:37744338
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	PMID:25741868|PMID:28492532
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:0080388	nephrotic syndrome type 7		ISO	RGD:1347499	D	RGD:7240710	20260729	OMIM			
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:0080388	nephrotic syndrome type 7		ISO	RGD:1347499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DGKE-related condition | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | ClinVar Annotator: match by term: Immunoglobulin-mediated membranoproliferative glomerulonephritis | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 7 | ClinVar Annotator: match by term: Nephrotic syndrome, type 7	PMID:19329342|PMID:23274426|PMID:23542698|PMID:25135762|PMID:25349199|PMID:25443527|PMID:25741868|PMID:25854283|PMID:26283675|PMID:28056875|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29127259|PMID:29590070|PMID:29869118|PMID:31331711|PMID:32386968|PMID:32413569|PMID:32424742|PMID:32838746|PMID:34267444|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37456562|PMID:37466676
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:1588	thrombocytopenia		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:3021	acute kidney failure		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:540	strabismus		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:557	kidney disease		ISO	RGD:1347499	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:28492532|PMID:29440240
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1347499	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:38922859
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:576	proteinuria		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:630	genetic disease		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:38374836
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:783	end stage renal disease		ISO	RGD:1347499	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:23274426|PMID:23542698|PMID:25135762|PMID:25741868|PMID:25854283|PMID:28117080|PMID:28492532|PMID:28496993|PMID:28526779|PMID:29590070|PMID:29869118|PMID:32386968|PMID:32413569|PMID:32424742
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:784	chronic kidney disease		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease | ClinVar Annotator: match by term: chronic kidney disease	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:19329342|PMID:25741868|PMID:28492532|PMID:31331711
12140085	DGKE	diacylglycerol kinase epsilon	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1347499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horizontal nystagmus	PMID:23274426|PMID:23542698|PMID:25741868|PMID:28492532|PMID:34269512|PMID:36988693|PMID:37433757|PMID:37466676
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:10534	stomach cancer		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:1115	sarcoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1345746	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140101	CCT6B	chaperonin containing TCP1 subunit 6B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:1059	intellectual disability		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:12849	autistic disorder		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:1826	epilepsy		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:17576681|PMID:19171772|PMID:24501278|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:17576681|PMID:19171772|PMID:24501278|PMID:25741868|PMID:28166811|PMID:28492532|PMID:29581270|PMID:9536098
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early myoclonic encephalopathy | ClinVar Annotator: match by term: Epilepsy, Myoclonic, Infantile, Severe	PMID:16199547|PMID:17576681|PMID:19171772|PMID:24501278|PMID:25214526|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:9536098
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:308	early myoclonic encephalopathy		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Early Myoclonic Encephalopathy | ClinVar Annotator: match by term: Early myoclonic encephalopathy	PMID:16199547|PMID:17576681|PMID:19171772|PMID:25640679|PMID:25741868|PMID:28492532|PMID:29581270|PMID:30571183|PMID:34245260|PMID:35897654|PMID:9536098
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:630	genetic disease		ISO	RGD:68574	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19171772|PMID:28492532|PMID:34245260|PMID:35897654
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KCND2 related neurodevelopmental disorder | ClinVar Annotator: match by term: KCND2-related neurodevelopmental disorder | ClinVar Annotator: match by term: KCND2-related neurodevelopmental disorder with or without seizures | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:19171772|PMID:24501278|PMID:25741868|PMID:28492532|PMID:29581270|PMID:31130284|PMID:34245260|PMID:35510384
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9004866	Ataxia		ISO	RGD:68574	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:10729221|PMID:16934482|PMID:24501278|PMID:25214526|PMID:25741868
12140125	KCND2	potassium voltage-gated channel subfamily D member 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:68574	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34418280
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:1115	sarcoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:1324	lung cancer		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733249	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733249	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:9002189	High Myopia		ISO	RGD:733249	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:9002276	Uridine-Cytidineuria		ISO	RGD:733249	D	RGD:7240710	20220921	OMIM			
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:9002276	Uridine-Cytidineuria		ISO	RGD:733249	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SLC28A1-related condition | ClinVar Annotator: match by term: URIDINE-CYTIDINEURIA | ClinVar Annotator: match by term: Uridine-cytidineuria	PMID:25741868
12140144	SLC28A1	solute carrier family 28 member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733249	D	RGD:9068941	20220922	CTD		CTD Direct Evidence: marker/mechanism	PMID:16837820
12140191	TM4SF4	transmembrane 4 L six family member 4	gene	DOID:10534	stomach cancer		ISO	RGD:731779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12140191	TM4SF4	transmembrane 4 L six family member 4	gene	DOID:409	liver disease		ISO	RGD:731779	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17069928
12140191	TM4SF4	transmembrane 4 L six family member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140191	TM4SF4	transmembrane 4 L six family member 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140191	TM4SF4	transmembrane 4 L six family member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731779	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140205	LOC612036	solute carrier family 22 member 20-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140205	LOC612036	solute carrier family 22 member 20-like	gene	DOID:1909	melanoma		ISO	RGD:1606386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140205	LOC612036	solute carrier family 22 member 20-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606386	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140205	LOC612036	solute carrier family 22 member 20-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140205	LOC612036	solute carrier family 22 member 20-like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140215	SGCD	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:24503780|PMID:25741868|PMID:26084686|PMID:26467025|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:p.Ser151Ala(mouse)	PMID:23695275|REF_RGD_ID:13605617
12140215	SGCD	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		associated with limb-girdle muscular dystrophy	PMID:10481911|REF_RGD_ID:13605616
12140215	SGCD	sarcoglycan delta	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD		associated with Sgcd knockout	PMID:19218289|REF_RGD_ID:13605618
12140215	SGCD	sarcoglycan delta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140215	SGCD	sarcoglycan delta	gene	DOID:0070681	congenital hydrocephalus		ISO	RGD:1315366	D	RGD:8554872	20260505	ClinVar		ClinVar Annotator: match by term: Congenital hydrocephalus	PMID:29983323
12140215	SGCD	sarcoglycan delta	gene	DOID:0080600	COVID-19		ISO	RGD:1315366	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12140215	SGCD	sarcoglycan delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10974018|PMID:12794684|PMID:18414213|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10735275|PMID:10838250|PMID:19770540|PMID:25741868|PMID:28492532|PMID:8841194
12140215	SGCD	sarcoglycan delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		IAGP		D	RGD:12801476	20230830	OMIA		Muscular dystrophy, limb-girdle, type R6 (LGMDR6)	PMID:15474686|PMID:18371037|PMID:28702169|PMID:37628692
12140215	SGCD	sarcoglycan delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:7240710	20180130	OMIM			
12140215	SGCD	sarcoglycan delta	gene	DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F		ISO	RGD:1315366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2F | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC | ClinVar Annotator: match by term: Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency | ClinVar Annotator: match by term: Muscular dystrophy, limb girdle 2F	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16199547|PMID:16432241|PMID:16524571|PMID:17164264|PMID:17576681|PMID:18285821|PMID:18414213|PMID:18996010|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25640679|PMID:25741868|PMID:26077850|PMID:26467025|PMID:26498160|PMID:26633542|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28687063|PMID:28855170|PMID:31019283|PMID:31983221|PMID:32875335|PMID:36291626|PMID:39678382|PMID:8841194|PMID:9536098|PMID:9832045
12140215	SGCD	sarcoglycan delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:7240710	20180130	OMIM			
12140215	SGCD	sarcoglycan delta	gene	DOID:0110436	dilated cardiomyopathy 1L		ISO	RGD:1315366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1L | ClinVar Annotator: match by term: SGCD-related condition	PMID:10735275|PMID:10838250|PMID:10974018|PMID:12794684|PMID:14564412|PMID:16432241|PMID:17164264|PMID:18285821|PMID:19259135|PMID:19770540|PMID:19771157|PMID:20623375|PMID:22095924|PMID:22337857|PMID:23695275|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26720722|PMID:26968544|PMID:28401079|PMID:28492532|PMID:28855170|PMID:31019283|PMID:31983221|PMID:36291626|PMID:39624497|PMID:39678382|PMID:8841194
12140215	SGCD	sarcoglycan delta	gene	DOID:11724	limb-girdle muscular dystrophy	severity	ISO	RGD:1315367	D	RGD:9068941	20200609	RGD			PMID:10481911|REF_RGD_ID:13605616
12140215	SGCD	sarcoglycan delta	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25637381|PMID:25741868|PMID:26720722|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25326637|PMID:25637381|PMID:25741868|PMID:25741913|PMID:26720722|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1315366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:25741868|PMID:25741913
12140215	SGCD	sarcoglycan delta	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:4362	cervical cancer		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140215	SGCD	sarcoglycan delta	gene	DOID:440	neuromuscular disease		ISO	RGD:1315366	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:10735275|PMID:10838250|PMID:16199547|PMID:24033266|PMID:24503780|PMID:25741868|PMID:27532257|PMID:28492532|PMID:8841194
12140215	SGCD	sarcoglycan delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868
12140215	SGCD	sarcoglycan delta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:630	genetic disease		ISO	RGD:1315366	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140215	SGCD	sarcoglycan delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:26467025|PMID:28492532
12140215	SGCD	sarcoglycan delta	gene	DOID:9884	muscular dystrophy		ISO	RGD:1315366	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12140235	EPHA5	EPH receptor A5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140235	EPHA5	EPH receptor A5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140235	EPHA5	EPH receptor A5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140235	EPHA5	EPH receptor A5	gene	DOID:1115	sarcoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140235	EPHA5	EPH receptor A5	gene	DOID:3069	malignant astrocytoma		ISO	RGD:1605127	D	RGD:8554872	20250422	ClinVar		ClinVar Annotator: match by term: Astrocytoma	PMID:25741868
12140235	EPHA5	EPH receptor A5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140235	EPHA5	EPH receptor A5	gene	DOID:6039	uveal melanoma		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12140235	EPHA5	EPH receptor A5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:12849	autistic disorder		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:1909	melanoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:3070	high grade glioma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:3275	thymoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322610	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140265	HIVEP3	HIVEP zinc finger 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322610	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140289	SKA2	spindle and kinetochore associated complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316064	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140337	BEND7	BEN domain containing 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140337	BEND7	BEN domain containing 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140337	BEND7	BEN domain containing 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314203	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140337	BEND7	BEN domain containing 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140337	BEND7	BEN domain containing 7	gene	DOID:1115	sarcoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140337	BEND7	BEN domain containing 7	gene	DOID:1324	lung cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140337	BEND7	BEN domain containing 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140337	BEND7	BEN domain containing 7	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12140337	BEND7	BEN domain containing 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314203	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140337	BEND7	BEN domain containing 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1320258	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1320258	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140383	VAMP4	vesicle associated membrane protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140403	LOC106560171	transmembrane O-methyltransferase	gene	DOID:0110515	autosomal recessive nonsyndromic deafness 63		ISO	RGD:1602965	D	RGD:7240710	20180130	OMIM			
12140403	LOC106560171	transmembrane O-methyltransferase	gene	DOID:0110515	autosomal recessive nonsyndromic deafness 63		ISO	RGD:1602965	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic hearing loss 63	
12140403	LOC106560171	transmembrane O-methyltransferase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12140403	LOC106560171	transmembrane O-methyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1602965	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12140403	LOC106560171	transmembrane O-methyltransferase	gene	DOID:9004538	Hearing Loss		ISO	RGD:1602965	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hearing loss | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:24033266|PMID:25741868|PMID:26467025|PMID:27260575|PMID:28492532|PMID:30311386
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0060292	X-linked chondrodysplasia punctata 1		ISO	RGD:733162	D	RGD:9068941	20220825	MouseDO		OMIM:302950 | OMIM:302960	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0080352	X-linked chondrodysplasia punctata 2		ISO	RGD:1345811	D	RGD:7240710	20211006	OMIM			
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0080352	X-linked chondrodysplasia punctata 2		ISO	RGD:1345811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT | ClinVar Annotator: match by term: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL | ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant	PMID:10391218|PMID:10391219|PMID:10710233|PMID:10942423|PMID:11038443|PMID:11493318|PMID:11982764|PMID:12483303|PMID:12503102|PMID:12509714|PMID:1355069|PMID:17378690|PMID:17625999|PMID:18414213|PMID:22121851|PMID:24726177|PMID:24915996|PMID:25741868|PMID:26075358|PMID:28492532|PMID:29851033|PMID:31034146|PMID:7677157
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0111865	MEND syndrome		ISO	RGD:1345811	D	RGD:7240710	20211006	OMIM			
12140454	EBP	cholestenol delta-isomerase	gene	DOID:0111865	MEND syndrome		ISO	RGD:1345811	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EBP-related condition | ClinVar Annotator: match by term: MEND SYNDROME | ClinVar Annotator: match by term: MEND syndrome	PMID:18414213|PMID:25741868|PMID:28492532
12140454	EBP	cholestenol delta-isomerase	gene	DOID:1059	intellectual disability		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12140454	EBP	cholestenol delta-isomerase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:1909	melanoma		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:2581	chondrodysplasia punctata		ISO	RGD:1345811	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:18176751
12140454	EBP	cholestenol delta-isomerase	gene	DOID:2581	chondrodysplasia punctata		ISO	RGD:1345811	D	RGD:9068941	20211008	RGD		CDPX2, OMIM:302960;DNA:point mutation:exon:W29X, R63X	PMID:10391218|REF_RGD_ID:734908
12140454	EBP	cholestenol delta-isomerase	gene	DOID:2581	chondrodysplasia punctata		ISO	RGD:733162	D	RGD:9068941	20211008	RGD			PMID:10391218|REF_RGD_ID:734908
12140454	EBP	cholestenol delta-isomerase	gene	DOID:3275	thymoma		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:5041	esophageal cancer		ISO	RGD:1345811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:630	genetic disease		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12140454	EBP	cholestenol delta-isomerase	gene	DOID:65	connective tissue disease		ISO	RGD:1345811	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:10391219|PMID:11038443|PMID:12503102|PMID:12509714|PMID:18414213|PMID:25741868|PMID:28492532
12140454	EBP	cholestenol delta-isomerase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:9008582	Developmental Disease		ISO	RGD:1345811	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12140454	EBP	cholestenol delta-isomerase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140454	EBP	cholestenol delta-isomerase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:10534	stomach cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:1909	melanoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1323013	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140474	TRIM14	tripartite motif containing 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323013	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:1324	lung cancer		ISO	RGD:1353304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:4362	cervical cancer		ISO	RGD:1353304	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:4440	seminoma		ISO	RGD:1353304	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:9788609|REF_RGD_ID:2291889
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:8719	in situ carcinoma		ISO	RGD:1353304	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:9788609|REF_RGD_ID:2291889
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2967	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:8382778|REF_RGD_ID:1300202
12140485	ZNF354A	zinc finger protein 354A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:0080798	myeloid leukemia associated with Down Syndrome		ISO	RGD:1604053	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056718
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:10534	stomach cancer		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:1115	sarcoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:1909	melanoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604053	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604053	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140498	DCAF7	DDB1 and CUL4 associated factor 7	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1604053	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16759393
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:0060858	hypotonia-cystinuria syndrome		ISO	RGD:733846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247364
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:10534	stomach cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:1115	sarcoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:1324	lung cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:3275	thymoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:3883	Lynch syndrome		ISO	RGD:156450125	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:28492532
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:4362	cervical cancer		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733846	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12140526	PPM1B	protein phosphatase, Mg2+/Mn2+ dependent 1B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:733846	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12140548	SNX14	sorting nexin 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140548	SNX14	sorting nexin 14	gene	DOID:0050581	brachydactyly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1322101	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia | ClinVar Annotator: match by term: Dysmetria	
12140548	SNX14	sorting nexin 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140548	SNX14	sorting nexin 14	gene	DOID:0080066	autosomal recessive spinocerebellar ataxia 20		IAGP		D	RGD:12801476	20250113	OMIA		Cerebellar cortical degeneration, SNX14-related	PMID:27566131|PMID:37341581|PMID:38003185
12140548	SNX14	sorting nexin 14	gene	DOID:0080066	autosomal recessive spinocerebellar ataxia 20		ISO	RGD:1322101	D	RGD:7240710	20180130	OMIM			
12140548	SNX14	sorting nexin 14	gene	DOID:0080066	autosomal recessive spinocerebellar ataxia 20		ISO	RGD:1322101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 20 | ClinVar Annotator: match by term: SNX14-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20 | ClinVar Annotator: match by term: autosomal recessive spinocerebellar ataxia 20	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532|PMID:34691693
12140548	SNX14	sorting nexin 14	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:10534	stomach cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:25741868|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:1059	intellectual disability		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:10908	hydrocephalus		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140548	SNX14	sorting nexin 14	gene	DOID:1115	sarcoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:1324	lung cancer		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140548	SNX14	sorting nexin 14	gene	DOID:1826	epilepsy		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532|PMID:32581362
12140548	SNX14	sorting nexin 14	gene	DOID:1909	melanoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140548	SNX14	sorting nexin 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140548	SNX14	sorting nexin 14	gene	DOID:3070	high grade glioma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12140548	SNX14	sorting nexin 14	gene	DOID:3275	thymoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140548	SNX14	sorting nexin 14	gene	DOID:480	movement disease		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1322101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:540	strabismus		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12140548	SNX14	sorting nexin 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140548	SNX14	sorting nexin 14	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140548	SNX14	sorting nexin 14	gene	DOID:630	genetic disease		ISO	RGD:1322101	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1322101	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia	PMID:25741868
12140548	SNX14	sorting nexin 14	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12140548	SNX14	sorting nexin 14	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322101	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9007661	Dwarfism		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25439728|PMID:25741868|PMID:25848753|PMID:28492532
12140548	SNX14	sorting nexin 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12140588	C12H6orf163	chromosome 12 C6orf163 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140588	C12H6orf163	chromosome 12 C6orf163 homolog	gene	DOID:0060058	lymphoma		ISO	RGD:1604202	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12140597	CD164	CD164 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140597	CD164	CD164 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140597	CD164	CD164 molecule	gene	DOID:0110587	autosomal dominant nonsyndromic deafness 66		ISO	RGD:736961	D	RGD:7240710	20190315	OMIM			
12140597	CD164	CD164 molecule	gene	DOID:0110587	autosomal dominant nonsyndromic deafness 66		ISO	RGD:736961	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 66 | ClinVar Annotator: match by term: CD164-related condition	PMID:24033266|PMID:25741868|PMID:28492532
12140597	CD164	CD164 molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140597	CD164	CD164 molecule	gene	DOID:1115	sarcoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12140597	CD164	CD164 molecule	gene	DOID:1324	lung cancer		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140597	CD164	CD164 molecule	gene	DOID:1324	lung cancer	exacerbates	ISO	RGD:736961	D	RGD:9068941	20211126	RGD		protein:increased expression:lung (human)	PMID:28903328|REF_RGD_ID:11555304
12140597	CD164	CD164 molecule	gene	DOID:3275	thymoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140597	CD164	CD164 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140597	CD164	CD164 molecule	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736961	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12140597	CD164	CD164 molecule	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12140597	CD164	CD164 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140597	CD164	CD164 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736961	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:0112295	spondylometaphyseal dysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spondylometaphyseal dysplasia	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:10534	stomach cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:10907	microcephaly		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:1115	sarcoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316704	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:1227	neutropenia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:1324	lung cancer		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:1909	melanoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:3275	thymoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:7240710	20190731	OMIM			
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:5684	spondyloepimetaphyseal dysplasia, Sponastrime type		ISO	RGD:1316704	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE | ClinVar Annotator: match by term: Sponastrime Dysplasia | ClinVar Annotator: match by term: Sponastrime dysplasia | ClinVar Annotator: match by term: TONSL-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30773277|PMID:30773278|PMID:32959051|PMID:9536098
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:630	genetic disease		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:9007573	Flatfoot		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30773277
12140613	TONSL	tonsoku like, DNA repair protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140647	IPO13	importin 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140647	IPO13	importin 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140647	IPO13	importin 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140647	IPO13	importin 13	gene	DOID:1115	sarcoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140647	IPO13	importin 13	gene	DOID:1909	melanoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140647	IPO13	importin 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140647	IPO13	importin 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12140647	IPO13	importin 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140647	IPO13	importin 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140647	IPO13	importin 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731320	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140673	TMEM192	transmembrane protein 192	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140673	TMEM192	transmembrane protein 192	gene	DOID:1115	sarcoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140673	TMEM192	transmembrane protein 192	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140673	TMEM192	transmembrane protein 192	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12140673	TMEM192	transmembrane protein 192	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12140673	TMEM192	transmembrane protein 192	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140673	TMEM192	transmembrane protein 192	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140673	TMEM192	transmembrane protein 192	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602829	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:1909	melanoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322562	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322562	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:1311218	D	RGD:9068941	20250906	RGD		mRNA:decreased expression:liver	PMID:17397868|REF_RGD_ID:626419685
12140683	MGST2	microsomal glutathione S-transferase 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1311218	D	RGD:9068941	20250906	RGD		mRNA:increased expression:liver	PMID:18461660|REF_RGD_ID:2302283
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:0112316	methemoglobinemia and ambiguous genitalia		ISO	RGD:736806	D	RGD:7240710	20180130	OMIM			
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:0112316	methemoglobinemia and ambiguous genitalia		ISO	RGD:736806	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA	PMID:22170710|PMID:25741868
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:10783	methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.S127P (human)	PMID:2107882|REF_RGD_ID:1599659
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:11400	pyelonephritis		ISO	RGD:620558	D	RGD:9068941	20200609	RGD			PMID:9848217|REF_RGD_ID:1599663
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:289	endometriosis		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:3275	thymoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:5041	esophageal cancer		ISO	RGD:736806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9005309	Congenital Methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		DNA:missense, nonsense mutations:splice junction,cds:multiple	PMID:18343696|REF_RGD_ID:11352695
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9005309	Congenital Methemoglobinemia		ISO	RGD:736806	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte membrane:	PMID:7451647|REF_RGD_ID:11352693
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9256	colorectal cancer		ISO	RGD:736806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9637	stomatitis		ISO	RGD:736806	D	RGD:9068941	20200609	RGD			PMID:10406239|REF_RGD_ID:11352692
12140690	LOC476167	cytochrome b5 type A pseudogene	gene	DOID:9970	obesity		ISO	RGD:736806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12140699	TRIM3	tripartite motif containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:731725	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:1324	lung cancer		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:1909	melanoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:3275	thymoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140699	TRIM3	tripartite motif containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140714	LOC478037	protocadherin alpha-6	gene	DOID:10283	prostate cancer		ISO	RGD:1346741	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0050469	Costello syndrome		ISO	RGD:732023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17703371
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0060233	cardiofaciocutaneous syndrome		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CFC syndrome | ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome	PMID:16439621|PMID:17366577|PMID:17551924|PMID:18039235|PMID:18413255|PMID:19156172|PMID:19915144|PMID:21062266|PMID:23569304|PMID:24033266|PMID:24458522|PMID:24803665|PMID:25423878|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860|PMID:34522120|PMID:34580403
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:25741868|PMID:25741869|PMID:28492532|PMID:33057194|PMID:35524774|PMID:35982159
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:12370306|PMID:12612583|PMID:15917206|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24637312|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26350204|PMID:26619011|PMID:26795593|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:30087384|PMID:30763456|PMID:31487502|PMID:31942422|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:21107320|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22588879|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25157968|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25640679|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26607044|PMID:26619011|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29696744|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:33482860|PMID:33502061|PMID:34006472|PMID:34308104|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:10502786|PMID:12370306|PMID:12612583|PMID:1430233|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16450583|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25241384|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25640679|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26607044|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28624954|PMID:28955999|PMID:29402968|PMID:29696744|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31040167|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32978145|PMID:32985417|PMID:33057194|PMID:33482860|PMID:33502061|PMID:34006472|PMID:34308104|PMID:34589056|PMID:35322241|PMID:35524774|PMID:35982159|PMID:39086472|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:12370306|PMID:12612583|PMID:15917206|PMID:16199547|PMID:16439621|PMID:16538226|PMID:17366577|PMID:17551924|PMID:17567882|PMID:17576681|PMID:17704260|PMID:17981815|PMID:18039235|PMID:1804226|PMID:18042262|PMID:18060073|PMID:18413255|PMID:18456719|PMID:18632602|PMID:18854871|PMID:19156172|PMID:19344873|PMID:19376813|PMID:19411838|PMID:19915144|PMID:20301365|PMID:20354455|PMID:21062266|PMID:22177953|PMID:22197931|PMID:22327936|PMID:22848035|PMID:23093928|PMID:23321623|PMID:23569304|PMID:24033266|PMID:24101678|PMID:24236184|PMID:24458522|PMID:24637312|PMID:24803665|PMID:24982505|PMID:25049390|PMID:25326635|PMID:25344691|PMID:25423878|PMID:25640679|PMID:25741868|PMID:25741869|PMID:26343583|PMID:26350204|PMID:26607044|PMID:26795593|PMID:26918529|PMID:27862862|PMID:28049852|PMID:28492532|PMID:28955999|PMID:29402968|PMID:29493581|PMID:29696744|PMID:29753091|PMID:29907801|PMID:30087384|PMID:30141192|PMID:30763456|PMID:31040167|PMID:31487502|PMID:31942422|PMID:31972311|PMID:32005694|PMID:32641410|PMID:32978145|PMID:33057194|PMID:33482860|PMID:33502061|PMID:34006472|PMID:34308104|PMID:34589056|PMID:35322241|PMID:35524774|PMID:35982159|PMID:36442478|PMID:39086472|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0080690	RASopathy		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: Rasopathy | ClinVar Annotator: match by term: rasopathies	PMID:12370306|PMID:12876277|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17551924|PMID:17576681|PMID:18039235|PMID:1804226|PMID:18413255|PMID:18632602|PMID:19376813|PMID:19915144|PMID:20354455|PMID:21062266|PMID:22197931|PMID:23453810|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25351745|PMID:25423878|PMID:25640679|PMID:25741868|PMID:25741869|PMID:26324360|PMID:26343583|PMID:26607044|PMID:27862862|PMID:27993330|PMID:28049852|PMID:28492532|PMID:28518168|PMID:28955999|PMID:29483135|PMID:29804890|PMID:30087384|PMID:30141192|PMID:31040167|PMID:31972311|PMID:32005694|PMID:32461654|PMID:32641410|PMID:32695793|PMID:32978145|PMID:33040161|PMID:33057194|PMID:33289976|PMID:33502061|PMID:34308104|PMID:34522120|PMID:35524774|PMID:35982159|PMID:36054331|PMID:36313893|PMID:36777711|PMID:37565534|PMID:39166407|PMID:40107205|PMID:8019005|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0110059	X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keratosis pilaris	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0111462	cardiofaciocutaneous syndrome 3		ISO	RGD:732023	D	RGD:7240710	20180130	OMIM			
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0111462	cardiofaciocutaneous syndrome 3		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOFACIOCUTANEOUS SYNDROME 3 | ClinVar Annotator: match by term: Cardiofaciocutaneous syndrome 3 | ClinVar Annotator: match by term: MAP2K1-related disorder	PMID:12370306|PMID:16199547|PMID:16439621|PMID:17366577|PMID:17551924|PMID:17576681|PMID:18039235|PMID:18413255|PMID:18456719|PMID:19915144|PMID:21062266|PMID:22197931|PMID:23093928|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25423878|PMID:25741868|PMID:25741869|PMID:26343583|PMID:27862862|PMID:27993330|PMID:28049852|PMID:28492532|PMID:28518168|PMID:28955999|PMID:29483135|PMID:29493581|PMID:30087384|PMID:30141192|PMID:31972311|PMID:32005694|PMID:32461654|PMID:32641410|PMID:32695793|PMID:32978145|PMID:33040161|PMID:33057194|PMID:33128510|PMID:33289976|PMID:34006472|PMID:34522120|PMID:34589056|PMID:35524774|PMID:35982159|PMID:36777711|PMID:37565534|PMID:39166407|PMID:40107205|PMID:9536098
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:732023	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:29493581
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:732023	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:17704260|PMID:18060073|PMID:19344873|PMID:19411838|PMID:19681119|PMID:20301365|PMID:22327936|PMID:22588877|PMID:24033266|PMID:25049390|PMID:25741868|PMID:27993330|PMID:28492532|PMID:29402968|PMID:30371878|PMID:30763456|PMID:31057598|PMID:32641410|PMID:35705560
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1059	intellectual disability		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:11294	arteriovenous malformation		ISO	RGD:732023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arteriovenous malformation	PMID:18632602|PMID:22327936|PMID:25351745|PMID:25741868|PMID:29753091|PMID:35101336|PMID:39434542|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:12215	oligohydramnios		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:12849	autistic disorder		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic disorder of childhood onset	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:18632602|PMID:22327936|PMID:25351745|PMID:25741868|PMID:29753091|PMID:32641410|PMID:35101336|PMID:36442478|PMID:39434542|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:732023	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:tumor	PMID:10216485|REF_RGD_ID:2292627
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1909	melanoma		ISO	RGD:12834427	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Malignant melanoma, somatic	PMID:18632602|PMID:19915144|PMID:23569304|PMID:25157968|PMID:25741868|PMID:29643386|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:1909	melanoma		ISO	RGD:732023	D	RGD:9068941	20250116	CTD		CTD Direct Evidence: marker/mechanism	PMID:22197931
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:2316	brain ischemia		ISO	RGD:1550208	D	RGD:9068941	20200609	RGD			PMID:10536014|REF_RGD_ID:1582169
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:2316	brain ischemia		ISO	RGD:732023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17901229
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:70495	D	RGD:9068941	20200609	RGD		metastasis;  inhibition reduced invasiveness of prostate tumor cells	PMID:12688676|REF_RGD_ID:2292631
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:255	hemangioma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:285	hairy cell leukemia		ISO	RGD:732023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24241536
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:732023	D	RGD:9068941	20200609	RGD			PMID:21057530|REF_RGD_ID:13702863
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3246	embryonal rhabdomyosarcoma		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Embryonal rhabdomyosarcoma	PMID:19681119|PMID:22588877|PMID:25351745|PMID:26324360|PMID:27993330|PMID:30371878|PMID:32641410|PMID:35705560
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3275	thymoma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Turner Syndrome, Male	PMID:17366577|PMID:18456719|PMID:22197931|PMID:25741868|PMID:25741869|PMID:26343583|PMID:27862862|PMID:27993330|PMID:28049852|PMID:28492532|PMID:29483135|PMID:32641410|PMID:32695793|PMID:32978145|PMID:33040161|PMID:33057194|PMID:33128510|PMID:33289976|PMID:35524774|PMID:35982159|PMID:36777711|PMID:37565534|PMID:40107205
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732023	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732023	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-small cell lung cancer | ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:17704260|PMID:18060073|PMID:18632602|PMID:19411838|PMID:19915144|PMID:20301365|PMID:22327936|PMID:23444215|PMID:23569304|PMID:24033266|PMID:25049390|PMID:25157968|PMID:25741868|PMID:28492532|PMID:29643386|PMID:30763456|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732023	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:18632602|PMID:22327936|PMID:25351745|PMID:25741868|PMID:29753091|PMID:35101336|PMID:39434542|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:62181	D	RGD:9068941	20211210	RGD			PMID:21514245|REF_RGD_ID:150530476
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:12834486|RGD:12835260|RGD:12835538|RGD:12838583	D	RGD:9068941	20250109	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of lung	PMID:26619011
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732023	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22135231
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732023	D	RGD:9068941	20250109	RGD		mRNA:increased expression:lung (human)	PMID:29254206|REF_RGD_ID:151665107
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4001	ovarian carcinoma		ISO	RGD:732023	D	RGD:9068941	20200609	RGD			PMID:12644821|REF_RGD_ID:2306053
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4074	pancreatic adenocarcinoma	severity	ISO	RGD:732023	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (human)	PMID:19513748|REF_RGD_ID:13838840
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4074	pancreatic adenocarcinoma	treatment	ISO	RGD:732023	D	RGD:9068941	20200609	RGD		human tissue in a mouse model	PMID:28849200|REF_RGD_ID:13838804
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4195	hyperglycemia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperglycemia	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4253	melorheostosis		ISO	RGD:732023	D	RGD:7240710	20200701	OMIM			
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4253	melorheostosis		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED | ClinVar Annotator: match by term: MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC | ClinVar Annotator: match by term: Melorheostosis	PMID:18632602|PMID:22327936|PMID:24463458|PMID:25351745|PMID:25370473|PMID:25741868|PMID:28492532|PMID:29753091|PMID:35101336|PMID:36442478|PMID:39434542|PMID:7651428
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732023	D	RGD:9068941	20200609	RGD		inhibition suppressed tumor growth and vascularization in an RCC xenograft model	PMID:18172299|REF_RGD_ID:2292630
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732023	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:13/25 cases (52%)	PMID:7664295|REF_RGD_ID:2292629
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4851	pilocytic astrocytoma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pilocytic astrocytoma	PMID:23583981|PMID:25202140|PMID:27993330|PMID:28912153|PMID:29880043|PMID:31288852|PMID:32289278|PMID:32399739|PMID:32641410
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4906	small intestine adenocarcinoma		ISO	RGD:732023	D	RGD:9068941	20200609	RGD			PMID:19014680|REF_RGD_ID:13464351
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:4989	pancreatitis	severity	ISO	RGD:1550208	D	RGD:9068941	20200609	RGD			PMID:28090569|REF_RGD_ID:13838805
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:6000	congestive heart failure		ISO	RGD:732023	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:630	genetic disease		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18456719|PMID:22197931|PMID:25741868|PMID:28049852|PMID:28495673
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17366577|PMID:17551924|PMID:19915144|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:30087384|PMID:32005694|PMID:32978145|PMID:34522120
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:83	cataract		ISO	RGD:70495	D	RGD:9068941	20200609	RGD			PMID:11222509|REF_RGD_ID:12801446
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:8488	polyhydramnios		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9000629	Preauricular Tag, Isolated, Autosomal Dominant, 1		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preauricular skin tag	PMID:25741868|PMID:28492532
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:70495	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:liver	PMID:15520221|REF_RGD_ID:2306052
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9001716	Hip Contracture		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732023	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002554	Tachycardia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002682	Cardiovascular Abnormalities	susceptibility	ISO	RGD:732023	D	RGD:9068941	20200609	RGD			PMID:16439621|REF_RGD_ID:1580093
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732023	D	RGD:9068941	20200609	RGD			PMID:18060073|REF_RGD_ID:2298686
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:25741868|PMID:28492532
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9003191	Vascular Malformations		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular malformation	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:12370306|PMID:17366577|PMID:17551924|PMID:19915144|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:30087384|PMID:32005694|PMID:32978145|PMID:34522120|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17366577|PMID:17551924|PMID:19915144|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:30087384|PMID:32005694|PMID:32978145|PMID:34522120
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9005149	Ovary Reperfusion Injury	treatment	ISO	RGD:70495	D	RGD:9068941	20260723	RGD			PMID:38453769|REF_RGD_ID:736797808
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:12370306|PMID:17366577|PMID:17551924|PMID:19915144|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:30087384|PMID:32005694|PMID:32978145|PMID:34522120|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9006325	Ventral Hernia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventral hernia	PMID:16439621|PMID:17366577|PMID:17551924|PMID:18042262|PMID:19156172|PMID:24033266|PMID:29493581
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9007573	Flatfoot		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732023	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17366577|PMID:17551924|PMID:19915144|PMID:23569304|PMID:24033266|PMID:24803665|PMID:25741868|PMID:27862862|PMID:28049852|PMID:28492532|PMID:30087384|PMID:32005694|PMID:32978145|PMID:34522120
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9409	diabetes insipidus		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes insipidus	PMID:25741868
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9834	hyperopia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:12370306|PMID:25741868|PMID:28492532|PMID:39166407
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9970	obesity		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12140765	MAP2K1	mitogen-activated protein kinase kinase 1	gene	DOID:9993	hypoglycemia		ISO	RGD:732023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
12140785	LAMTOR4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:1324	lung cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140785	LAMTOR4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:4362	cervical cancer		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140785	LAMTOR4	late endosomal/lysosomal adaptor, MAPK and MTOR activator 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:4362	cervical cancer		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140797	TRIM11	tripartite motif containing 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140807	PELI3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605259	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140807	PELI3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140807	PELI3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:1909	melanoma		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140807	PELI3	pellino E3 ubiquitin protein ligase family member 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1354274	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354274	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140828	GTDC1	glycosyltransferase like domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12140866	GRIP2	glutamate receptor interacting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140909	SPTLC3	serine palmitoyltransferase long chain base subunit 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351339	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12140909	SPTLC3	serine palmitoyltransferase long chain base subunit 3	gene	DOID:870	neuropathy		ISO	RGD:1351339	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:26257172
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:1909	melanoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603691	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:3070	high grade glioma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12140925	DNAJC16	DnaJ heat shock protein family (Hsp40) member C16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603691	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:10534	stomach cancer		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:10907	microcephaly		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: microcephaly	PMID:25741868
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:1909	melanoma		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:630	genetic disease		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24204302|PMID:26526202|PMID:26535115|PMID:28492532
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1319496	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:24204302|PMID:25741868|PMID:26535115|PMID:28492532
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:9006685	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1		ISO	RGD:1319496	D	RGD:7240710	20180130	OMIM			
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:9006685	Microcephaly, Short Stature, and Impaired Glucose Metabolism 1		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 | ClinVar Annotator: match by term: Microcephaly, short stature, and impaired glucose metabolism 1 | ClinVar Annotator: match by term: TRMT10A-related condition	PMID:24204302|PMID:25053765|PMID:25741868|PMID:26535115|PMID:28492532|PMID:33067246|PMID:33448213|PMID:34686905|PMID:35137278|PMID:38821874
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12140952	TRMT10A	tRNA methyltransferase 10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:3070	high grade glioma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1314432	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12140982	SUGP2	SURP and G-patch domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141015	TMEM201	transmembrane protein 201	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141015	TMEM201	transmembrane protein 201	gene	DOID:1115	sarcoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141015	TMEM201	transmembrane protein 201	gene	DOID:3275	thymoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141015	TMEM201	transmembrane protein 201	gene	DOID:4362	cervical cancer		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141015	TMEM201	transmembrane protein 201	gene	DOID:5041	esophageal cancer		ISO	RGD:1604210	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141015	TMEM201	transmembrane protein 201	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141015	TMEM201	transmembrane protein 201	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141015	TMEM201	transmembrane protein 201	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141015	TMEM201	transmembrane protein 201	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:0112361	spondylocostal dysostosis 3		ISO	RGD:1350319	D	RGD:7240710	20180130	OMIM			
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:0112361	spondylocostal dysostosis 3		ISO	RGD:1350319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LFNG-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spondylocostal dysostosis 3, autosomal recessive	PMID:16199547|PMID:16385447|PMID:17576681|PMID:25741868|PMID:28492532|PMID:29459493|PMID:9536098
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:1909	melanoma		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1350319	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12141029	LFNG	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:1350319	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12141041	LYRM1	LYR motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141041	LYRM1	LYR motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141041	LYRM1	LYR motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141041	LYRM1	LYR motif containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141041	LYRM1	LYR motif containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141041	LYRM1	LYR motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601746	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1351903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1351903	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12141081	SERTAD4	SERTA domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:0080833	laryngomalacia		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:0112054	non-syndromic X-linked intellectual disability 107		ISO	RGD:1603201	D	RGD:7240710	20190315	OMIM			
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12141088	STEEP1	STING1 ER exit protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12141099	PRRT1	proline rich transmembrane protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141099	PRRT1	proline rich transmembrane protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141107	CDAN1	codanin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141107	CDAN1	codanin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16141353|PMID:16754775|PMID:17576681|PMID:25741868|PMID:28102861|PMID:28492532|PMID:29599085|PMID:29901818|PMID:33401150|PMID:9536098
12141107	CDAN1	codanin 1	gene	DOID:0111396	congenital dyserythropoietic anemia type I		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type I | ClinVar Annotator: match by term: Dyserythropoietic anemia, congenital type 1	PMID:12434312|PMID:23065504|PMID:25741868|PMID:27432187|PMID:28132690|PMID:28492532|PMID:31097629|PMID:35417566
12141107	CDAN1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:7240710	20191009	OMIM			
12141107	CDAN1	codanin 1	gene	DOID:0111398	congenital dyserythropoietic anemia type Ia		ISO	RGD:1315579	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia | ClinVar Annotator: match by term: CDAN1-related condition | ClinVar Annotator: match by term: DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE Ia	PMID:16098079|PMID:16141353|PMID:16754775|PMID:17576681|PMID:25741868|PMID:26467025|PMID:27432187|PMID:28102861|PMID:28492532|PMID:29599085|PMID:29901818|PMID:33401150|PMID:34493867|PMID:37432431|PMID:38666530|PMID:9536098
12141107	CDAN1	codanin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141107	CDAN1	codanin 1	gene	DOID:1115	sarcoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141107	CDAN1	codanin 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:1247	blood coagulation disease		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1315579	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	
12141107	CDAN1	codanin 1	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1315579	D	RGD:9068941	20260604	RGD		DNA:mutations:multiple (human)	PMID:16098079|REF_RGD_ID:11081155
12141107	CDAN1	codanin 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute kidney injury	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12141107	CDAN1	codanin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1315579	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16098079|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33401150|PMID:34493867|PMID:9536098
12141107	CDAN1	codanin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12141107	CDAN1	codanin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141107	CDAN1	codanin 1	gene	DOID:630	genetic disease		ISO	RGD:1315579	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoproteinemia	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute liver failure	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9006635	Hyponatremia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12141107	CDAN1	codanin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315579	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12141145	LIMD2	LIM domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141145	LIMD2	LIM domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141145	LIMD2	LIM domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141145	LIMD2	LIM domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141145	LIMD2	LIM domain containing 2	gene	DOID:9004969	Neoplasm Recurrence, Local		ISO	RGD:1603297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
12141145	LIMD2	LIM domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603297	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141145	LIMD2	LIM domain containing 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603297	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18925433
12141157	LOC611670	zinc finger protein 514	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141157	LOC611670	zinc finger protein 514	gene	DOID:3275	thymoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141157	LOC611670	zinc finger protein 514	gene	DOID:4362	cervical cancer		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141157	LOC611670	zinc finger protein 514	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141157	LOC611670	zinc finger protein 514	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141157	LOC611670	zinc finger protein 514	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141157	LOC611670	zinc finger protein 514	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141175	EREG	epiregulin	gene	DOID:0050598	extrapulmonary tuberculosis	susceptibility	ISO	RGD:730898	D	RGD:9068941	20201008	RGD		DNA:SNP:exon 4: (rs2367707) (human)	PMID:30634928|REF_RGD_ID:39457687
12141175	EREG	epiregulin	gene	DOID:10534	stomach cancer		ISO	RGD:730898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141175	EREG	epiregulin	gene	DOID:1324	lung cancer		ISO	RGD:730898	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141175	EREG	epiregulin	gene	DOID:13270	erythropoietic protoporphyria		ISO	RGD:730898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19267999
12141175	EREG	epiregulin	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:730898	D	RGD:9068941	20201008	RGD		DNA:SNP:exon 4: (rs2367707) (human)	PMID:30634928|REF_RGD_ID:39457687
12141175	EREG	epiregulin	gene	DOID:399	tuberculosis	susceptibility	ISO	RGD:730898	D	RGD:9068941	20201008	RGD		DNA:SNP:intron: (rs7675690) (human)	PMID:22170233|REF_RGD_ID:39457686
12141175	EREG	epiregulin	gene	DOID:5041	esophageal cancer		ISO	RGD:730898	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141175	EREG	epiregulin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730898	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35776891
12141175	EREG	epiregulin	gene	DOID:869	cholesteatoma		ISO	RGD:730898	D	RGD:9068941	20201008	RGD		mRNA:increased expression:external acoustic meatus (human)	PMID:24256036|REF_RGD_ID:39457690
12141175	EREG	epiregulin	gene	DOID:9000099	Experimental Colitis		ISO	RGD:730899	D	RGD:9068941	20201008	RGD		protein:increased expression:colonic mucosa (mouse)	PMID:20498653|REF_RGD_ID:39457688
12141175	EREG	epiregulin	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:730898	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15313392
12141175	EREG	epiregulin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:730898	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141194	FBXO48	F-box protein 48	gene	DOID:5041	esophageal cancer		ISO	RGD:1605751	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141194	FBXO48	F-box protein 48	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141224	SAMD1	sterile alpha motif domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141224	SAMD1	sterile alpha motif domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141224	SAMD1	sterile alpha motif domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:10534	stomach cancer		ISO	RGD:1343710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:1324	lung cancer		ISO	RGD:1343710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:5041	esophageal cancer		ISO	RGD:1343710	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343710	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141235	LOC100855887	zinc finger protein 226	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343710	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141253	SYNDIG1L	synapse differentiation inducing 1 like	gene	DOID:10534	stomach cancer		ISO	RGD:1602232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141253	SYNDIG1L	synapse differentiation inducing 1 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1602232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12141262	MIR92A-1	microRNA mir-92a-1	gene	DOID:9538	multiple myeloma		ISO	RGD:1346101	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29687521
12141324	MSH6	mutS homolog 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:27363726|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ductal carcinoma in situ	PMID:25741868|PMID:26845104|PMID:28492532|PMID:28874130
12141324	MSH6	mutS homolog 6	gene	DOID:0060104	cerebellar medulloblastoma		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar medulloblastoma	
12141324	MSH6	mutS homolog 6	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Glutaric Acidemia type 2	PMID:21437237|PMID:25326637|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26580448|PMID:28492532|PMID:29945567|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21671081|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27498913|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29360161|PMID:29368341|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31730237|PMID:31965077|PMID:32019284|PMID:32156018|PMID:32661327|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34519692|PMID:35430768|PMID:35535697|PMID:36073783|PMID:5559809|PMID:8838326|PMID:9354786|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:10348829|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11807791|PMID:12376507|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16813607|PMID:17117178|PMID:17453009|PMID:17531815|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19723918|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21239990|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22691310|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23598716|PMID:23621914|PMID:23733757|PMID:23755103|PMID:23990280|PMID:24033266|PMID:24055113|PMID:24072394|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25117503|PMID:25142776|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26440929|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26689913|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27498913|PMID:27601186|PMID:27696107|PMID:27884168|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29625052|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:29967336|PMID:30013564|PMID:30128536|PMID:30152102|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31589614|PMID:31730237|PMID:31742824|PMID:31830689|PMID:31965077|PMID:31997046|PMID:32019284|PMID:32156018|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33693762|PMID:34086170|PMID:34178123|PMID:34271781|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36073783|PMID:36988593|PMID:551112|PMID:5559809|PMID:580251|PMID:8838326|PMID:9354786|PMID:9510473|PMID:9774676
12141324	MSH6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:11153917|PMID:11807791|PMID:14974087|PMID:15483016|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18566915|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20937110|PMID:21520333|PMID:21642682|PMID:21671081|PMID:22102614|PMID:22290698|PMID:23104009|PMID:23403630|PMID:23621914|PMID:23733757|PMID:23755103|PMID:24033266|PMID:24323032|PMID:24362816|PMID:25142776|PMID:25479140|PMID:25525159|PMID:25617771|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26552419|PMID:26845104|PMID:26898890|PMID:27363726|PMID:28153049|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28767289|PMID:28944238|PMID:29107668|PMID:29345684|PMID:29360161|PMID:29489754|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29922827|PMID:29967336|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30702970|PMID:30787465|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31742824|PMID:31965077|PMID:32060697|PMID:32156018|PMID:32661327|PMID:32720330|PMID:32875559|PMID:32885271|PMID:33087929|PMID:33422027|PMID:33467402|PMID:33471991|PMID:34178123|PMID:34326862|PMID:34426522|PMID:35372080|PMID:35430768|PMID:35449176|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary, nonpolyposis, type 1 | ClinVar Annotator: match by term: Lynch syndrome 1 | ClinVar Annotator: match by term: Lynch syndrome I	PMID:14974087|PMID:15483016|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19723918|PMID:20007843|PMID:20301390|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24323032|PMID:24362816|PMID:25142776|PMID:25741868|PMID:26467025|PMID:26832770|PMID:26845104|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28153049|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28767289|PMID:29107668|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29785566|PMID:29922827|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31391288|PMID:31589614|PMID:31830689|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33422121|PMID:33467402|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34637943|PMID:34873480|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:7240710	20180130	OMIM			
12141324	MSH6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 5 | ClinVar Annotator: match by term: LYNCH SYNDROME 5 | ClinVar Annotator: match by term: Lynch syndrome 5	PMID:10471527|PMID:10508506|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12732731|PMID:14520694|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:15872200|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17498565|PMID:17531815|PMID:17576681|PMID:17653898|PMID:17718861|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18625694|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19685281|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22851212|PMID:22886683|PMID:22949379|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24244552|PMID:24307375|PMID:24323032|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25910913|PMID:25980754|PMID:26099011|PMID:26181448|PMID:26270727|PMID:26300997|PMID:26333163|PMID:26374070|PMID:26436112|PMID:26437257|PMID:26467025|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27443514|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27930734|PMID:27965287|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29107668|PMID:29192238|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29946849|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30202019|PMID:30217226|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30521064|PMID:30608896|PMID:30630526|PMID:30702970|PMID:30787465|PMID:30877237|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31491536|PMID:31589614|PMID:31642931|PMID:31647837|PMID:31721781|PMID:31830689|PMID:31852831|PMID:31857677|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32427313|PMID:32459922|PMID:32547938|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32694065|PMID:32719484|PMID:32804454|PMID:32809219|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32949329|PMID:32980694|PMID:32997692|PMID:33007869|PMID:33094597|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33647816|PMID:33654310|PMID:33693762
12141324	MSH6	mutS homolog 6	gene	DOID:0070272	hereditary nonpolyposis colorectal cancer type 5		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, hereditary nonpolyposis, type 5 | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer type 5 | ClinVar Annotator: match by term: LYNCH SYNDROME 5 | ClinVar Annotator: match by term: Lynch syndrome 5	PMID:33809641|PMID:33888356|PMID:34115236|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34994648|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36470260|PMID:36691871|PMID:36699461|PMID:36744932|PMID:36845387|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37153042|PMID:37229919|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38327772|PMID:38350919|PMID:38714106|PMID:38789506|PMID:39004446|PMID:39437510|PMID:40118241|PMID:4728327|PMID:6329717|PMID:9345684|PMID:9390556|PMID:9536098|PMID:9819445
12141324	MSH6	mutS homolog 6	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
12141324	MSH6	mutS homolog 6	gene	DOID:0080502	GM1 gangliosidosis type 1		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Gangliosidosis, Generalized GM1, Type 1	PMID:23621914|PMID:24033266|PMID:25142776|PMID:25326637|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26689913|PMID:28492532|PMID:29684080|PMID:29945567|PMID:30267214|PMID:31159747|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31921681|PMID:33471991|PMID:34326862|PMID:34445333|PMID:35980532
12141324	MSH6	mutS homolog 6	gene	DOID:0080643	B-lymphoblastic leukemia/lymphoma with BCR-ABL1		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: B Lymphoblastic Leukemia/Lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1	PMID:22658618|PMID:25741868|PMID:28492532|PMID:30267214
12141324	MSH6	mutS homolog 6	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2B	PMID:25326637|PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:0110845	xeroderma pigmentosum group D		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: XP4 XERODERMA PIGMENTOSUM VIII	PMID:25741868|PMID:28492532|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:0110957	Gaucher's disease type I		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gaucher disease, type 1	PMID:22493294
12141324	MSH6	mutS homolog 6	gene	DOID:0112182	mismatch repair cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MMR DEFICIENCY | ClinVar Annotator: match by term: Turcot syndrome	PMID:10537275|PMID:10612827|PMID:11807791|PMID:15354210|PMID:16885385|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:22495361|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24362816|PMID:24728189|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28135145|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28724667|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29684080|PMID:29717530|PMID:29758562|PMID:30267214|PMID:30322717|PMID:31054147|PMID:31159747|PMID:31391288|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33471991|PMID:35449176|PMID:36243179|PMID:38714106|PMID:39437510|PMID:4728327
12141324	MSH6	mutS homolog 6	gene	DOID:10283	prostate cancer		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:10534	stomach cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10471527|PMID:15236168|PMID:15483016|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19723918|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23700467|PMID:23733757|PMID:23755103|PMID:24033266|PMID:24244552|PMID:24362816|PMID:24689082|PMID:24933100|PMID:25006859|PMID:25525159|PMID:25741868|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26720728|PMID:26832770|PMID:26845104|PMID:27064304|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27965287|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28765196|PMID:28767289|PMID:29345684|PMID:29489754|PMID:29684080|PMID:29758562|PMID:29785566|PMID:29922827|PMID:30019097|PMID:30147880|PMID:30322717|PMID:30376427|PMID:30521064|PMID:31307542|PMID:31391288|PMID:31491536|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33471991|PMID:33693762|PMID:34271781|PMID:34637943|PMID:34667028|PMID:34873480|PMID:34994648|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:37030500|PMID:37751191|PMID:37751715|PMID:37833309|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1321738	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18254781|REF_RGD_ID:2293503
12141324	MSH6	mutS homolog 6	gene	DOID:1107	esophageal carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of esophagus	PMID:10537275|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:23047549|PMID:23652311|PMID:24362816|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26845104|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29717530|PMID:29758562|PMID:30322717|PMID:31054147|PMID:32719484|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:1115	sarcoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:11830	myopia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12141324	MSH6	mutS homolog 6	gene	DOID:12176	goiter		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
12141324	MSH6	mutS homolog 6	gene	DOID:1240	leukemia		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Leukemia	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
12141324	MSH6	mutS homolog 6	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia	PMID:23621914|PMID:25085752|PMID:25741868|PMID:26845104|PMID:27884168|PMID:28492532|PMID:30267214
12141324	MSH6	mutS homolog 6	gene	DOID:1324	lung cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:27363726|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:1380	endometrial cancer		ISO	RGD:1321738	D	RGD:7240710	20190213	OMIM			
12141324	MSH6	mutS homolog 6	gene	DOID:1380	endometrial cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial cancer	PMID:18269114|PMID:20924129|PMID:24362816|PMID:25741868|PMID:26446363|PMID:28492532|PMID:30543514
12141324	MSH6	mutS homolog 6	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:24033266|PMID:24100870|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29684080|PMID:30267214|PMID:31307542|PMID:31391288|PMID:31422818|PMID:32634176|PMID:32804454|PMID:32885271|PMID:32980694|PMID:33471991|PMID:35449176|PMID:36169650|PMID:36243179|PMID:38714106|PMID:4728327
12141324	MSH6	mutS homolog 6	gene	DOID:1459	hypothyroidism		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:1520	colon carcinoma		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10699937|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12537658|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14585961|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15805151|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18176851|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18415027|PMID:18523027|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19130300|PMID:19250818|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22219001|PMID:22250089|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23294250|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23990280|PMID:24033266|PMID:24072394|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:25117503|PMID:25186627|PMID:25231023|PMID:25307252|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25751794|PMID:25871441|PMID:25980754|PMID:26023681|PMID:26181448|PMID:26274037|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26845104|PMID:26898890|PMID:26900293|PMID:27013479|PMID:27028851|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27498913|PMID:27601186|PMID:27723366|PMID:27863258|PMID:28125075|PMID:28135145|PMID:28153049|PMID:28176205|PMID:28323777|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28687356|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29575718|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30306255|PMID:30322717|PMID:30337059|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30729418|PMID:31054147|PMID:31100584|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31647837|PMID:31730237|PMID:31857677|PMID:31965077|PMID:31997046|PMID:32008151|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32242007|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32661327|PMID:32719484|PMID:32773772|PMID:32809219|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33693762|PMID:8838326|PMID:9345684|PMID:9536098
12141324	MSH6	mutS homolog 6	gene	DOID:1520	colon carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colonic carcinoma	PMID:10537275|PMID:15236168|PMID:15872200|PMID:16813607|PMID:17854147|PMID:18269114|PMID:18566915|PMID:18809606|PMID:19459153|PMID:19723918|PMID:20028993|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21153778|PMID:21155762|PMID:21520333|PMID:21642682|PMID:22006311|PMID:22081473|PMID:22290698|PMID:23047549|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23733757|PMID:24033266|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24728189|PMID:25186627|PMID:25479140|PMID:25561518|PMID:25670083|PMID:25741868|PMID:25980754|PMID:26181448|PMID:26333163|PMID:26374070|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26681312|PMID:26845104|PMID:27064304|PMID:27273229|PMID:27363726|PMID:27398995|PMID:27456091|PMID:27601186|PMID:28153049|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28724667|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:30128536|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30521064|PMID:30608896|PMID:31054147|PMID:31100584|PMID:31204389|PMID:31307542|PMID:31491536|PMID:31647837|PMID:31965077|PMID:31997046|PMID:32068069|PMID:32459922|PMID:32642664|PMID:32719484|PMID:33467402|PMID:33471991|PMID:33693762|PMID:34326862|PMID:34944796|PMID:35263119|PMID:36988593|PMID:37013556|PMID:9345684
12141324	MSH6	mutS homolog 6	gene	DOID:1596	depressive disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29192238|PMID:32459922|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34250417|PMID:34326862|PMID:35264596|PMID:35712480|PMID:36243179
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:15952900|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:23729658|PMID:24033266|PMID:24055113|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28166811|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32980694|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31921681|PMID:32019277|PMID:32615015|PMID:32634176|PMID:32980694|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34637943|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35980532|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31666926|PMID:31921681|PMID:32019277|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32658311|PMID:32659497|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36243179|PMID:36845387|PMID:36988593|PMID:38789506|PMID:38893230
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BARD1-related cancer predisposition | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21255554|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25085752|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32540221|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33726816|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36451132|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37937776|PMID:38327772|PMID:38789506|PMID:38893230
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, PROTECTION AGAINST | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10508506|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12202775|PMID:12537658|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16807412|PMID:16885385|PMID:16940983|PMID:17312306|PMID:17417778|PMID:17531815|PMID:17973265|PMID:18033691|PMID:18206535|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19766128|PMID:19924528|PMID:20028993|PMID:20459533|PMID:21039432|PMID:21056691|PMID:21155762|PMID:21520333|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23403630|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24393486|PMID:24448499|PMID:24549055|PMID:24728327|PMID:24933000|PMID:25142776|PMID:25186627|PMID:25224212|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25637381|PMID:25741868|PMID:25801821|PMID:25980754|PMID:26099011|PMID:26206375|PMID:26332594|PMID:26333163|PMID:26467025|PMID:26530882|PMID:26580448|PMID:26648449|PMID:26666765|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27978560|PMID:28206961|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28767289|PMID:28944238|PMID:29338689|PMID:29596542|PMID:29625052|PMID:2968408|PMID:29684080|PMID:29785566|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30267214|PMID:30322717|PMID:30521064|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31332305|PMID:31360874|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31589614|PMID:31666926|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32019277|PMID:32068069|PMID:32427313|PMID:32540221|PMID:32547938|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32659497|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33726816|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34598035|PMID:34637943|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35980532|PMID:36169650|PMID:36243179|PMID:36451132|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37007083|PMID:37937776|PMID:38327772|PMID:38789506|PMID:38893230
12141324	MSH6	mutS homolog 6	gene	DOID:1612	breast cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer | ClinVar Annotator: match by term: Cancer breast | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:15236168|PMID:15483016|PMID:16418736|PMID:16525781|PMID:17973265|PMID:18269114|PMID:18409202|PMID:18566915|PMID:19072991|PMID:19250818|PMID:19575290|PMID:20028993|PMID:20301390|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22495361|PMID:22886683|PMID:22949379|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24549055|PMID:25186627|PMID:25318351|PMID:25741868|PMID:26437257|PMID:26467025|PMID:26517685|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26976419|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28135145|PMID:28152038|PMID:28460341|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28874130|PMID:28975465|PMID:29345684|PMID:29478780|PMID:29625052|PMID:29684080|PMID:29785566|PMID:29922827|PMID:30093976|PMID:30128536|PMID:30322717|PMID:30376427|PMID:30521064|PMID:31307542|PMID:31422818|PMID:31589614|PMID:31642931|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32634176|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32804454|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33309985|PMID:33422121|PMID:33471991|PMID:33606809|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34637943|PMID:34873480|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35449176|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35884469|PMID:36169650|PMID:36243179|PMID:36744932|PMID:36988593|PMID:37937776|PMID:38327772|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:1826	epilepsy		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:1909	melanoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141324	MSH6	mutS homolog 6	gene	DOID:1964	fallopian tube cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fallopian tube cancer	PMID:26845104|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:2030	anxiety disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:29192238|PMID:32459922|PMID:32980694|PMID:33007869|PMID:33471991|PMID:34250417|PMID:34326862|PMID:35264596|PMID:35712480|PMID:36243179
12141324	MSH6	mutS homolog 6	gene	DOID:219	colon cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:10537275|PMID:14974087|PMID:15483016|PMID:17531815|PMID:18269114|PMID:18301448|PMID:18566915|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20487569|PMID:21642682|PMID:22006311|PMID:22081473|PMID:23047549|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24323032|PMID:24362816|PMID:24728189|PMID:25142776|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:26845104|PMID:27363726|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28944238|PMID:29107668|PMID:29345684|PMID:29348823|PMID:29717530|PMID:29758562|PMID:29922827|PMID:30322717|PMID:30877237|PMID:31054147|PMID:31391288|PMID:32060697|PMID:32719484|PMID:32875559|PMID:33471991|PMID:36356413|PMID:36451132
12141324	MSH6	mutS homolog 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Adenocarcinoma of the colon | ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:2394	ovarian cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inherited ovarian cancer (without breast cancer) | ClinVar Annotator: match by term: Ovarian cancer	PMID:23621914|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26845104|PMID:27363726|PMID:27449771|PMID:28492532|PMID:28873162|PMID:30267214|PMID:31204389|PMID:31307542|PMID:32635641|PMID:33471991|PMID:34326862|PMID:35449176|PMID:37013556|PMID:38509102
12141324	MSH6	mutS homolog 6	gene	DOID:2841	asthma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:10471527|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12732731|PMID:14974087|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16813607|PMID:16885385|PMID:17498565|PMID:17531815|PMID:17576681|PMID:17718861|PMID:17909073|PMID:17973265|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19250818|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22851212|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24549055|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25303977|PMID:25318351|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26099011|PMID:26300997|PMID:26333163|PMID:26374070|PMID:26436112|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26720728|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26934580|PMID:27064304|PMID:27273229|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27443514|PMID:27601186|PMID:27696107|PMID:27863258|PMID:27930734|PMID:27978560|PMID:28135145|PMID:28152038|PMID:28423363|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29946849|PMID:30013564|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30202019|PMID:30217226|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30521064|PMID:30630526|PMID:30680046|PMID:30702970|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30982232|PMID:31054147|PMID:31104363|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31428572|PMID:31491536|PMID:31589614|PMID:31744831|PMID:31830689|PMID:31852831|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32427313|PMID:32459922|PMID:32547938|PMID:32635641|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32719484|PMID:32809219|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32949329|PMID:32973888|PMID:32980694|PMID:33007869|PMID:33094597|PMID:33309985|PMID:33422121|PMID:33471991|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33888356|PMID:34115236|PMID:34172528|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:36091175|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36845387|PMID:36896836|PMID:36988593|PMID:37153042|PMID:37229919|PMID:37743058|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38327772|PMID:38350919
12141324	MSH6	mutS homolog 6	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:38714106|PMID:38789506|PMID:39004446|PMID:39437510|PMID:4728327|PMID:9345684|PMID:9354786|PMID:9536098
12141324	MSH6	mutS homolog 6	gene	DOID:2975	cystic kidney disease		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:3070	high grade glioma		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10471527|PMID:15236168|PMID:15483016|PMID:18269114|PMID:18301448|PMID:22006311|PMID:23047549|PMID:24362816|PMID:25006859|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26720728|PMID:27372833|PMID:27601186|PMID:27863258|PMID:28492532|PMID:29345684|PMID:29489754|PMID:29758562|PMID:30147880|PMID:30376427|PMID:31307542|PMID:32660107|PMID:33471991|PMID:34667028|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1321738	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Rhabdomyosarcoma	PMID:21520333|PMID:25741868|PMID:26467025|PMID:28153049|PMID:28492532|PMID:29750335|PMID:29755653|PMID:30128536|PMID:31100584|PMID:31965077|PMID:33467402
12141324	MSH6	mutS homolog 6	gene	DOID:3312	bipolar disorder		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:25741868
12141324	MSH6	mutS homolog 6	gene	DOID:3347	osteosarcoma		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Osteosarcoma	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
12141324	MSH6	mutS homolog 6	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:1321738	D	RGD:9068941	20210430	RGD			PMID:25503122|REF_RGD_ID:126848779
12141324	MSH6	mutS homolog 6	gene	DOID:3459	breast carcinoma		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Carcinoma of breast	PMID:10537275|PMID:10699937|PMID:11470537|PMID:12019211|PMID:12732731|PMID:15098177|PMID:15236168|PMID:15483016|PMID:15782118|PMID:15805151|PMID:16203774|PMID:16270383|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16771955|PMID:16885385|PMID:18269114|PMID:18301448|PMID:18355840|PMID:18409202|PMID:18523027|PMID:18566915|PMID:19072991|PMID:20028993|PMID:20487569|PMID:21039432|PMID:21056691|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23263490|PMID:23621914|PMID:24033266|PMID:24040339|PMID:24362816|PMID:25117503|PMID:25479140|PMID:25559809|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26681312|PMID:26832770|PMID:27601186|PMID:27696107|PMID:28176205|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29212164|PMID:29345684|PMID:29785566|PMID:29978187|PMID:30521064|PMID:31391288|PMID:31857677|PMID:31965077|PMID:32242007|PMID:33471991|PMID:8838326
12141324	MSH6	mutS homolog 6	gene	DOID:3459	breast carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:11470537|PMID:12019211|PMID:15483016|PMID:15782118|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22495361|PMID:22886683|PMID:22949379|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24040339|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26483394|PMID:26832770|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31882575|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:33471991|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27920101|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:4520694|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:35806449|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27376475|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32875559|PMID:32885271|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35806449|PMID:36073783|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18484749|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23622243|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35245693|PMID:35263119|PMID:35430768|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35904628|PMID:36073783|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931|PMID:31647837
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26694549|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36315513|PMID:36691871|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31609810|PMID:31642931
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31822864|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36315513|PMID:36470260|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Lynch syndrome	PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37307877|PMID:4520694|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, non-polyposis | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37894291|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37229919|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524|PMID:38297350|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:5449176|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24500651|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37415201|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38201524|PMID:38297350|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:503524|PMID:5449176|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27620904|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:2934568|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30238922|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: APC-mutation negative familial colorectal cancer | ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19697156|PMID:19698169|PMID:19723918|PMID:19763152|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23313954|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25640679|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25910913|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26866578|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28529006|PMID:28531214|PMID:28577310|PMID:28585536|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:2934568|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29654263|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30238922|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37307877
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:30835354|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31785789|PMID:31822864|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32546831|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32830346|PMID:32832836|PMID:32844218|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32933947|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33057194|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33215268|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33726816|PMID:33729574|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33850299|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:33939675|PMID:34011629|PMID:34034685|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34196900|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34404389|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35180847|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35346574|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35467778|PMID:35482138|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35969835|PMID:35980532|PMID:35982159|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36240479|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36303034|PMID:36313796|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36451132|PMID:36470260|PMID:36586540|PMID:36591511|PMID:36612224|PMID:36623239|PMID:36691871|PMID:36699461|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36898365|PMID:36988593|PMID:37007083|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Familial nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch syndrome	PMID:37229919|PMID:37307877|PMID:37415201|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37854294|PMID:37864171|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38136308|PMID:38201524|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38509102|PMID:38722212|PMID:38789506|PMID:38843470|PMID:38893230|PMID:39004446|PMID:39036440|PMID:39102164|PMID:39175077|PMID:39272843|PMID:4520694|PMID:4728327|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9510473|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10348829|PMID:10413423|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15217520|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19763152|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21155762|PMID:21239990|PMID:21388660|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22232658|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23464690|PMID:23523604|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24072394|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25081409|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25559809|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25741868|PMID:25910913|PMID:25954033|PMID:25980754|PMID:26099011|PMID:26177554|PMID:26200421|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27701467|PMID:27863258|PMID:27903930|PMID:27920101|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28932927
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:28944238|PMID:29025352|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29875428|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30202019|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30426508|PMID:30521064|PMID:30608896|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31570381|PMID:31658756|PMID:31660093|PMID:31721781|PMID:31742824|PMID:31744831|PMID:31822864|PMID:31852831|PMID:31857677|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31997046|PMID:32002723|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32242007|PMID:32295079|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32739502|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32949329|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33046448|PMID:33393477|PMID:33414168|PMID:33467402|PMID:33471991|PMID:33563768|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33804961|PMID:33809641|PMID:33864561|PMID:33888356|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34519692|PMID:34570441|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35482138|PMID:35534704|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35806449|PMID:35886069|PMID:35904628|PMID:36035419|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36403965|PMID:36591511|PMID:36612224|PMID:36691871|PMID:36699461|PMID:36804482|PMID:36845387|PMID:36863448|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37244485|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37937776|PMID:37965459|PMID:38003901|PMID:38060977|PMID:38297350|PMID:38327772|PMID:39004446|PMID:39036440|PMID:39272843|PMID:39437510|PMID:40118241|PMID:4520694|PMID:5449176|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8838326|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9428522|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10636912|PMID:10675480|PMID:10699937|PMID:10786688|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15217520|PMID:15236168|PMID:15354210|PMID:15365995|PMID:15483016|PMID:15713769|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17453009|PMID:17498565|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19685281|PMID:19697156|PMID:19723918|PMID:19763152|PMID:19851131|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20215533|PMID:20301390|PMID:20307669|PMID:20379851|PMID:20487569|PMID:20587412|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21388660|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22219001|PMID:22232658|PMID:22250089|PMID:22290698|PMID:22306203|PMID:22406018|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22851212|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23417712|PMID:23464690|PMID:23523604|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24068316|PMID:24072394|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24705251|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25081409|PMID:25110875|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:25637381|PMID:25640679|PMID:25648859|PMID:25670083|PMID:25741868|PMID:25782445|PMID:25871441|PMID:25954033|PMID:25980754|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26811195|PMID:26832770|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27165744|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27456091|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27854360|PMID:27863258|PMID:27903930|PMID:27920101
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:27930734|PMID:27965287|PMID:27978560|PMID:27993330|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:2852851|PMID:28528517|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:29025352|PMID:29107668|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785566|PMID:29875428|PMID:29887214|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30202019|PMID:30217226|PMID:30238922|PMID:30256257|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30498870|PMID:30521064|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31297992|PMID:31307542|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31491536|PMID:31589614|PMID:31642931|PMID:31647837|PMID:31721781|PMID:31742824|PMID:31744831|PMID:31783044|PMID:31822864|PMID:31830689|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32234730|PMID:32242007|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720330|PMID:32739502|PMID:32775946|PMID:32782288|PMID:32804454|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32949329|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33046448|PMID:33094597|PMID:33309985|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33804961|PMID:33809641|PMID:33864561|PMID:33888356|PMID:34086170|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34570441|PMID:34579513|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35454858|PMID:35482138|PMID:35534704|PMID:35535697|PMID:35638907|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36035419|PMID:36073783|PMID:36091175|PMID:36169650|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36387226|PMID:36403965|PMID:36451132|PMID:36470260|PMID:36591511|PMID:36612224|PMID:36691871|PMID:36699461|PMID:36744932|PMID:36793599|PMID:36804482|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37088804|PMID:37153042|PMID:37229919|PMID:37244485|PMID:37658412|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37894428|PMID:37937776
12141324	MSH6	mutS homolog 6	gene	DOID:3883	Lynch syndrome		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome | ClinVar Annotator: match by term: Hereditary non-polyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colon cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal cancer | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal carcinoma | ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms | ClinVar Annotator: match by term: Inherited MMR deficiency (Lynch syndrome) | ClinVar Annotator: match by term: Lynch Syndrome | ClinVar Annotator: match by term: Lynch syndrome | ClinVar Annotator: match by term: hereditary nonpolyposis colon cancer	PMID:37965459|PMID:38003901|PMID:38034465|PMID:38060977|PMID:38297350|PMID:38311346|PMID:38327772|PMID:38350919|PMID:38714106|PMID:38789506|PMID:39004446|PMID:39437510|PMID:39659251|PMID:40118241|PMID:4520694|PMID:4728327|PMID:5559809|PMID:6329717|PMID:7604266|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9428522|PMID:9536098|PMID:9564049|PMID:9774676|PMID:9819445|PMID:9851131|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21327329
12141324	MSH6	mutS homolog 6	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal cortex carcinoma	
12141324	MSH6	mutS homolog 6	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid gland carcinoma	PMID:10537275|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:23047549|PMID:23652311|PMID:24362816|PMID:24728189|PMID:25741868|PMID:26467025|PMID:26845104|PMID:28492532|PMID:28514183|PMID:28724667|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29717530|PMID:29758562|PMID:30322717|PMID:31054147|PMID:32719484|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:4007	bladder carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Urinary bladder carcinoma	PMID:21056691|PMID:24033266|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26467025|PMID:28492532|PMID:30306255
12141324	MSH6	mutS homolog 6	gene	DOID:4159	skin cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant neoplasm of skin	PMID:26845104|PMID:28492532|PMID:31391288
12141324	MSH6	mutS homolog 6	gene	DOID:4362	cervical cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1321738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:543	dystonia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32566746|PMID:32773772|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10675480|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:33309985|PMID:33471991|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31102422|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:11153917|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15483016|PMID:16010685|PMID:16203774|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19924528|PMID:20028993|PMID:20176959|PMID:21120944|PMID:21153778|PMID:21239990|PMID:22006311|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23523604|PMID:23621914|PMID:24033266|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24728327|PMID:24763289|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25741868|PMID:25980754|PMID:26300997|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26580448|PMID:26689913|PMID:26845104|PMID:26898890|PMID:27028851|PMID:27273229|PMID:27294619|PMID:27601186|PMID:28125075|PMID:28135145|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29338689|PMID:29345684|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30283497|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31660093|PMID:31666926|PMID:31965077|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32773772|PMID:32854451|PMID:33309985|PMID:33471991|PMID:34371384|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:28874130|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30387329|PMID:30612635|PMID:30982232|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33309985|PMID:33471991|PMID:34371384|PMID:34519692|PMID:35128723|PMID:35467778|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34178123|PMID:34308104|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19250818|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:22006311|PMID:22102614|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27601186|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29684080|PMID:29887214|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31845022|PMID:31965077|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32141610|PMID:32295079|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32658311|PMID:32660107|PMID:32773772|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:35128723|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32029870|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33087929|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35264596|PMID:35449176|PMID:35467778|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18067074|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37854294|PMID:38789506|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12376507|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26046366|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34034685|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37007083|PMID:37854294|PMID:38789506|PMID:38843470|PMID:9307272|PMID:9354786|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11470537|PMID:11586295|PMID:11709755|PMID:11900875|PMID:12019211|PMID:12522549|PMID:12537658|PMID:12658575|PMID:14520694|PMID:14871975|PMID:15184898|PMID:15236168|PMID:15340264|PMID:15365995|PMID:15483016|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16010685|PMID:16034045|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17095871|PMID:17117178|PMID:17344846|PMID:17417778|PMID:17453009|PMID:17531815|PMID:17594722|PMID:17854147|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18415027|PMID:18566915|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19575290|PMID:19685281|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20045164|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20531397|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21437237|PMID:21642682|PMID:21674763|PMID:21836479|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22581703|PMID:22703879|PMID:22766992|PMID:22810696|PMID:22851212|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23523604|PMID:23621914|PMID:23755103|PMID:23757202|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24100870|PMID:24362816|PMID:24448499|PMID:24689082|PMID:24710284|PMID:24728327|PMID:24763289|PMID:24933000|PMID:24989436|PMID:25085752|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25186627|PMID:25194673|PMID:25231023|PMID:25318681|PMID:25326637|PMID:25479140|PMID:25503501|PMID:25559809|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25871441|PMID:25980754|PMID:25985138|PMID:26181448|PMID:26206375|PMID:26214590|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26580448|PMID:26681312|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26976419|PMID:27028851|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27363726|PMID:27380347|PMID:27398995|PMID:27601186|PMID:27696107|PMID:27854360|PMID:28125075|PMID:28135145|PMID:28195393|PMID:28301460|PMID:28323777|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28523262|PMID:28531214|PMID:28591191|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28944238|PMID:29044863|PMID:29212164|PMID:29245953|PMID:29338689|PMID:29345684|PMID:29368341|PMID:29442399|PMID:29575718|PMID:29641532|PMID:29654263|PMID:29684080|PMID:29752822|PMID:29758562|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30376427|PMID:30387329|PMID:30521064|PMID:30575961|PMID:30612635|PMID:30787465|PMID:30982232|PMID:31054147|PMID:31159747|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31589614|PMID:31604779|PMID:31647837|PMID:31660093|PMID:31666926|PMID:31783044|PMID:31830689|PMID:31845022|PMID:31857677|PMID:31965077|PMID:31970404|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32091409|PMID:32141610|PMID:32255556|PMID:32295079|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32620917|PMID:32635641|PMID:32658311|PMID:32660107|PMID:32664968|PMID:32719484|PMID:32773772|PMID:32775946|PMID:32832836|PMID:32854451|PMID:32885271|PMID:32906206|PMID:32973888|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33471991|PMID:33563768|PMID:33867526|PMID:33939675|PMID:34034685|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34848827|PMID:35128723
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35171259|PMID:35264596|PMID:35449176|PMID:35467778|PMID:35534704|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35904628|PMID:35982159|PMID:36230473|PMID:36243179|PMID:36387226|PMID:36793599|PMID:36988593|PMID:37007083|PMID:37854294|PMID:38789506|PMID:38843470|PMID:9307272|PMID:9510473|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10413423|PMID:11709755|PMID:11807791|PMID:17854147|PMID:18269114|PMID:18790734|PMID:19685281|PMID:22102614|PMID:22851212|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25741868|PMID:26333163|PMID:26467025|PMID:26580448|PMID:27294619|PMID:27363726|PMID:27601186|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28878254|PMID:29641532|PMID:29684080|PMID:29755653|PMID:29945567|PMID:30702970|PMID:31386297|PMID:31391288|PMID:31660093|PMID:31965077|PMID:32091409|PMID:32295079|PMID:32547938|PMID:32566746|PMID:32620917|PMID:33057194|PMID:33471991|PMID:33563768|PMID:34519692|PMID:35449176|PMID:35534704|PMID:35982159|PMID:36243179
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11709755|PMID:11807791|PMID:18269114|PMID:18790734|PMID:19685281|PMID:21056691|PMID:22102614|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25561518|PMID:25670083|PMID:25741868|PMID:26181448|PMID:26333163|PMID:26467025|PMID:26580448|PMID:27294619|PMID:27363726|PMID:27601186|PMID:28492532|PMID:28514183|PMID:28767289|PMID:29684080|PMID:29755653|PMID:30306255|PMID:30702970|PMID:31386297|PMID:31391288|PMID:32060697|PMID:33057194|PMID:33471991|PMID:34519692|PMID:35449176|PMID:35982159|PMID:36243179|PMID:36356413|PMID:36451132
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11709755|PMID:11807791|PMID:12522549|PMID:14520694|PMID:15184898|PMID:15483016|PMID:16237223|PMID:16341805|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18409202|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19685281|PMID:19723918|PMID:20176959|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24055113|PMID:24362816|PMID:24448499|PMID:24728327|PMID:25142776|PMID:25186627|PMID:25231023|PMID:25479140|PMID:25561518|PMID:25637381|PMID:25670083|PMID:25741868|PMID:25980754|PMID:25985138|PMID:26181448|PMID:26333163|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26832770|PMID:26845104|PMID:26898890|PMID:27153395|PMID:27294619|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28591191|PMID:28767289|PMID:28873162|PMID:29044863|PMID:29684080|PMID:29755653|PMID:29785566|PMID:29887214|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30159786|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30521064|PMID:30702970|PMID:31159747|PMID:31332305|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31589614|PMID:31830689|PMID:31921681|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32547938|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33422121|PMID:33471991|PMID:34271781|PMID:34326862|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34873480|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35980532|PMID:35982159|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506|PMID:38893230
12141324	MSH6	mutS homolog 6	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:11709755|PMID:11807791|PMID:15483016|PMID:15872200|PMID:16418736|PMID:16525781|PMID:16813607|PMID:18269114|PMID:18409202|PMID:18566915|PMID:18790734|PMID:19072991|PMID:19685281|PMID:19723918|PMID:20301390|PMID:20587412|PMID:21039432|PMID:21056691|PMID:21153778|PMID:21674763|PMID:21836479|PMID:22102614|PMID:22250089|PMID:22290698|PMID:22886683|PMID:22949379|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23755103|PMID:24033266|PMID:24362816|PMID:25186627|PMID:25479140|PMID:25561518|PMID:25670083|PMID:25741868|PMID:25980754|PMID:26181448|PMID:26333163|PMID:26437257|PMID:26467025|PMID:26580448|PMID:26689913|PMID:26832770|PMID:27294619|PMID:27363726|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:28767289|PMID:28874130|PMID:29684080|PMID:29755653|PMID:29785566|PMID:29922827|PMID:30306255|PMID:30322717|PMID:30521064|PMID:30702970|PMID:31386297|PMID:31391288|PMID:31589614|PMID:31647837|PMID:31830689|PMID:31997046|PMID:32060697|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33057194|PMID:33309985|PMID:33422121|PMID:33471991|PMID:34271781|PMID:34519692|PMID:34637943|PMID:34873480|PMID:35449176|PMID:35535697|PMID:35725860|PMID:35884469|PMID:35982159|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141324	MSH6	mutS homolog 6	gene	DOID:5750	endometrial serous adenocarcinoma		ISO	RGD:1321738	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: Papillary carcinoma of the corpus uteri	PMID:18269114|PMID:21642682|PMID:24362816|PMID:25741868|PMID:28492532|PMID:29922827
12141324	MSH6	mutS homolog 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141324	MSH6	mutS homolog 6	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral breast cancer	PMID:23047549|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:28687356|PMID:29641532|PMID:29684080|PMID:31159747|PMID:32658311|PMID:33471991|PMID:33558524
12141324	MSH6	mutS homolog 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141324	MSH6	mutS homolog 6	gene	DOID:7998	hyperthyroidism		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
12141324	MSH6	mutS homolog 6	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25701956
12141324	MSH6	mutS homolog 6	gene	DOID:9000027	Microsatellite Instability		ISO	RGD:2322311	D	RGD:9068941	20210430	RGD			PMID:18417481|REF_RGD_ID:2292505
12141324	MSH6	mutS homolog 6	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616133
12141324	MSH6	mutS homolog 6	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
12141324	MSH6	mutS homolog 6	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian neoplasm	PMID:18269114|PMID:19851131|PMID:24362816|PMID:25741868|PMID:28423363|PMID:28492532|PMID:28514183|PMID:28888541|PMID:29758562|PMID:30013564|PMID:33094597
12141324	MSH6	mutS homolog 6	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:9003507	Premature Birth		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12141324	MSH6	mutS homolog 6	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10508506|PMID:10537275|PMID:10612827|PMID:11470537|PMID:11709755|PMID:11807791|PMID:12019211|PMID:14520694|PMID:15483016|PMID:15782118|PMID:15872200|PMID:16000562|PMID:16408224|PMID:16636019|PMID:16813607|PMID:16885385|PMID:17531815|PMID:17557300|PMID:17594722|PMID:17909073|PMID:18269114|PMID:18301448|PMID:18566915|PMID:19389263|PMID:19924528|PMID:20028993|PMID:20301390|PMID:20379851|PMID:20487569|PMID:20531397|PMID:20937110|PMID:21120944|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22290698|PMID:22495361|PMID:22703879|PMID:22851212|PMID:23047549|PMID:23104009|PMID:23359684|PMID:23621914|PMID:23652311|PMID:23729658|PMID:23733757|PMID:24033266|PMID:24040339|PMID:24100870|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24448499|PMID:24728189|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25231023|PMID:25318681|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25637381|PMID:25642631|PMID:25741868|PMID:25801821|PMID:25892863|PMID:25980754|PMID:26206375|PMID:26214590|PMID:26333163|PMID:26467025|PMID:26483394|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26689913|PMID:26845104|PMID:26898890|PMID:26901136|PMID:27363726|PMID:27398995|PMID:27487738|PMID:28125075|PMID:28135145|PMID:28206961|PMID:28323777|PMID:28466842|PMID:28492532|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28640387|PMID:28724667|PMID:28767289|PMID:28873162|PMID:28888541|PMID:28944238|PMID:29212164|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29489754|PMID:29596542|PMID:2968408|PMID:29684080|PMID:29717530|PMID:29755653|PMID:29758562|PMID:29887214|PMID:29967336|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30128536|PMID:30267214|PMID:30322717|PMID:30324682|PMID:30376427|PMID:30608896|PMID:30702970|PMID:30787465|PMID:30877237|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31159747|PMID:31204389|PMID:31307542|PMID:31360874|PMID:31391288|PMID:31422818|PMID:31447099|PMID:31501241|PMID:31604779|PMID:31658756|PMID:31666926|PMID:31742824|PMID:31882575|PMID:31965077|PMID:32068069|PMID:32547938|PMID:32615015|PMID:32658311|PMID:32719484|PMID:32773772|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33294277|PMID:33393477|PMID:33422027|PMID:33471991|PMID:33563768|PMID:33588785|PMID:34088725|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34359559|PMID:34426522|PMID:34445333|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35904628|PMID:36230473|PMID:36243179|PMID:36988593|PMID:37030500|PMID:37854294|PMID:38509102|PMID:4728327
12141324	MSH6	mutS homolog 6	gene	DOID:9003892	Mismatch Repair Cancer Syndrome 1		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BTP1 SYNDROME | ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 1 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 1	PMID:10537275|PMID:10612827|PMID:11807791|PMID:15354210|PMID:16885385|PMID:18269114|PMID:18566915|PMID:20028993|PMID:20301390|PMID:20487569|PMID:22006311|PMID:22081473|PMID:22495361|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24362816|PMID:24728189|PMID:24728327|PMID:25186627|PMID:25741868|PMID:26467025|PMID:26845104|PMID:27363726|PMID:28135145|PMID:28492532|PMID:28514183|PMID:28531214|PMID:28724667|PMID:28944238|PMID:29345684|PMID:29348823|PMID:29684080|PMID:29717530|PMID:29758562|PMID:30267214|PMID:30322717|PMID:31054147|PMID:31159747|PMID:31391288|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33471991|PMID:35449176|PMID:36243179|PMID:38714106|PMID:39437510|PMID:4728327
12141324	MSH6	mutS homolog 6	gene	DOID:9004351	Digestive System Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD			PMID:9401011|REF_RGD_ID:1625103
12141324	MSH6	mutS homolog 6	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29616133
12141324	MSH6	mutS homolog 6	gene	DOID:9004751	Nausea		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nausea	PMID:23104009|PMID:23621914|PMID:23755103|PMID:25741868|PMID:26467025|PMID:27363726|PMID:28492532|PMID:28767289|PMID:29684080|PMID:31391288|PMID:33471991|PMID:35449176
12141324	MSH6	mutS homolog 6	gene	DOID:9004866	Ataxia		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:30801050
12141324	MSH6	mutS homolog 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23554159|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:2633163|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28166811|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8176851|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27928858|PMID:27978560|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32980694|PMID:33393477|PMID:33471991|PMID:33558524|PMID:33654310|PMID:33809179|PMID:33888356|PMID:34445333|PMID:34519692|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15324697|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18790734|PMID:18809606|PMID:18951462|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22179786|PMID:22219001|PMID:22250089|PMID:22277660|PMID:22283331|PMID:22290698|PMID:22480969|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25892863|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26206375|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26674132|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27928858|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29212164|PMID:29263802|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29710228|PMID:29750335|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30225334|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31159747|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31666926|PMID:31730237|PMID:31783044|PMID:31845022|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32008151|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32295079|PMID:32295625|PMID:32427313|PMID:32449172|PMID:32547938|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32773772|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32885271|PMID:32980694|PMID:33008098|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33654310
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33693762|PMID:33809179|PMID:33827469|PMID:33888356|PMID:34359559|PMID:34445333|PMID:34519692|PMID:35039564|PMID:35535697|PMID:5559809|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30192042|PMID:30211344|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30733081|PMID:30740824|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31102422|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32141610|PMID:32156018|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34343771|PMID:34359559|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34873480|PMID:35039564|PMID:35263119|PMID:35535697|PMID:35806449|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35245693|PMID:35263119|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25370038|PMID:25419514
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29174094|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35402282|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36230473|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:35039564|PMID:35070997|PMID:35128723|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36315513|PMID:36988593|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25370038|PMID:25419514
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27989324|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29478780|PMID:29485237|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30179225|PMID:30211344|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31501241|PMID:31570381|PMID:31588121|PMID:31604779|PMID:31609810|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31815888|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32941469|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33888356|PMID:33937060|PMID:34048176|PMID:34145315|PMID:34250417|PMID:34271781|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35676339|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35904628|PMID:35980532|PMID:36230473|PMID:36243179|PMID:36315513|PMID:36691871|PMID:36845387|PMID:36988593|PMID:37307877|PMID:4520694|PMID:5559809|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18676759|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212|PMID:25231023
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25741909|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854218|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31815888|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34687117|PMID:34873480|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35467778|PMID:35534218|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27884168|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30980208|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31118792|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31269945|PMID:31297337|PMID:31297992|PMID:31307542|PMID:31308508|PMID:31332305|PMID:31350202|PMID:31360874|PMID:31386297|PMID:31391288|PMID:31422574|PMID:31422818|PMID:31428572|PMID:31444830|PMID:31447099|PMID:31470354|PMID:31491536|PMID:31501241|PMID:31570381|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31609810|PMID:31613886|PMID:31642931|PMID:31647837|PMID:31658756|PMID:31660093|PMID:31666926|PMID:31721781|PMID:31730237|PMID:31742824|PMID:31783044|PMID:31784482|PMID:31785789|PMID:31815888|PMID:31830689|PMID:31841383|PMID:31844177|PMID:31845022|PMID:31851094|PMID:31852831|PMID:31857677|PMID:31882575|PMID:31911633|PMID:31921681|PMID:31927803|PMID:31948886|PMID:3195077|PMID:31965077|PMID:31966835|PMID:31970404|PMID:31997046|PMID:32002723|PMID:32008151|PMID:32009247|PMID:32019277|PMID:32019284|PMID:32029870|PMID:32030746|PMID:32042422|PMID:32052251|PMID:32060697|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32095738|PMID:32113160|PMID:32123317|PMID:32141610|PMID:32156018|PMID:32234730|PMID:32242007|PMID:32251017|PMID:32255556|PMID:32295079|PMID:32295625|PMID:32338768|PMID:32347951|PMID:32427313|PMID:32449172|PMID:32459922|PMID:32522261|PMID:32540221|PMID:32547938|PMID:32556862|PMID:32566746|PMID:32587781|PMID:32615015|PMID:32620917|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32658311|PMID:32659497|PMID:32659967|PMID:32660107|PMID:32661327|PMID:32664968|PMID:32694065|PMID:32719484|PMID:32720237|PMID:32739502|PMID:32770442|PMID:32773772|PMID:32775946|PMID:32804454|PMID:32809219|PMID:32820175|PMID:32826389|PMID:32832836|PMID:32849802|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32936981|PMID:32941469|PMID:32957588|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33003368|PMID:33007869|PMID:33008098|PMID:33087929|PMID:33110269|PMID:33193653|PMID:33294277|PMID:33309985|PMID:33359728|PMID:33393477|PMID:33414168|PMID:33422027|PMID:33467402|PMID:33471991|PMID:33558524|PMID:33563768|PMID:33577226|PMID:33588785|PMID:33606809|PMID:33630411|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33746161|PMID:33747920|PMID:33809179|PMID:33809641|PMID:33827469|PMID:33840814|PMID:33864561|PMID:33867526|PMID:33888356|PMID:33937060|PMID:34011629|PMID:34048176|PMID:34086170|PMID:34088725|PMID:34115236|PMID:34145315|PMID:34172528|PMID:34178123|PMID:34197922|PMID:34250417|PMID:34271781|PMID:34308104|PMID:34326862|PMID:34343771|PMID:34359559|PMID:34371384|PMID:34425783|PMID:34426522|PMID:34445333|PMID:34519692|PMID:34598035|PMID:34613461|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34848827|PMID:34873480|PMID:34944796|PMID:34994648|PMID:35014770|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35128723|PMID:35171259|PMID:35223509|PMID:35245693|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35402282|PMID:35430768|PMID:35449176|PMID:35454858|PMID:35467778|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35806449|PMID:35884469|PMID:35886069|PMID:35901820|PMID:35904628|PMID:35980532|PMID:36091175|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36259290|PMID:36293153|PMID:36315513|PMID:36387226|PMID:36403965|PMID:36425062|PMID:36470260|PMID:36612224|PMID:36691871|PMID:36793599|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37088804|PMID:37153042|PMID:37307877|PMID:37743058|PMID:37894428|PMID:37965459|PMID:38060977|PMID:4520694|PMID:4728327|PMID:503524|PMID:551112|PMID:5559809|PMID:580154|PMID:580251|PMID:624910|PMID:6329717|PMID:7604266|PMID:8063241|PMID:8838326|PMID:9307272|PMID:9345684|PMID:9354786|PMID:9390556|PMID:9510473|PMID:9536098|PMID:9774676|PMID:9929971
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10348829|PMID:10413423|PMID:10471527|PMID:10480359|PMID:10507723|PMID:10508506|PMID:10521294|PMID:10537275|PMID:10612827|PMID:10675480|PMID:10699937|PMID:10938287|PMID:11153917|PMID:11470537|PMID:11479205|PMID:11586295|PMID:11641390|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12202775|PMID:12373605|PMID:12376507|PMID:12376742|PMID:12522549|PMID:12537658|PMID:12547705|PMID:12658575|PMID:12732731|PMID:12900794|PMID:12920072|PMID:1388045|PMID:14520694|PMID:14574004|PMID:14585961|PMID:14645426|PMID:14871975|PMID:14961575|PMID:14974087|PMID:15098177|PMID:15184898|PMID:15217520|PMID:15236168|PMID:15340264|PMID:15354210|PMID:15365995|PMID:1548301|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15837969|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16000562|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283678|PMID:16283884|PMID:16341805|PMID:16360201|PMID:16408224|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16736289|PMID:16771955|PMID:16807412|PMID:16813607|PMID:16885385|PMID:16929514|PMID:16940983|PMID:17082796|PMID:17095871|PMID:17101317|PMID:17117178|PMID:17199584|PMID:17259933|PMID:17312306|PMID:17323113|PMID:17344846|PMID:17348456|PMID:17417778|PMID:17440981|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17557300|PMID:17576681|PMID:17594722|PMID:17653898|PMID:17661183|PMID:17718861|PMID:17854147|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18067074|PMID:18176851|PMID:18206535|PMID:18236172|PMID:18269114|PMID:18301448|PMID:18307539|PMID:18355840|PMID:183784|PMID:183865|PMID:18389388|PMID:18409202|PMID:18415027|PMID:18523027|PMID:18550572|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:18841495|PMID:19072991|PMID:19130300|PMID:19194194|PMID:19250818|PMID:19324997|PMID:19389263|PMID:19459153|PMID:19526325|PMID:19575290|PMID:19685280|PMID:19685281|PMID:19698169|PMID:19723918|PMID:19766128|PMID:19851887|PMID:19924528|PMID:19931546|PMID:20007843|PMID:20028993|PMID:20045164|PMID:20149637|PMID:20176959|PMID:20215533|PMID:20301390|PMID:20301500|PMID:20379851|PMID:20459533|PMID:20487569|PMID:20531397|PMID:20587412|PMID:2059188|PMID:20591884|PMID:20600922|PMID:20682701|PMID:20924129|PMID:20937110|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21239990|PMID:21247423|PMID:21255554|PMID:21388660|PMID:21431882|PMID:21437237|PMID:21520333|PMID:21590452|PMID:21636617|PMID:21642682|PMID:216699|PMID:21671081|PMID:21674763|PMID:21836479|PMID:21868491|PMID:21879275|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22219001|PMID:22250089|PMID:22283331|PMID:22290698|PMID:22306203|PMID:22480969|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22672937|PMID:22691310|PMID:22703879|PMID:22734033|PMID:22766992|PMID:22788692|PMID:22810696|PMID:22851212|PMID:22863191|PMID:22895193|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23263490|PMID:23294250|PMID:23354634|PMID:23359684|PMID:23403630|PMID:23415222|PMID:23523604|PMID:23541221|PMID:23544471|PMID:23588873|PMID:23598716|PMID:23612316|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23752102|PMID:23755103|PMID:23757202|PMID:23773459|PMID:23990280|PMID:24033266|PMID:24040339|PMID:24055113|PMID:24068316|PMID:24072394|PMID:24073290|PMID:24100870|PMID:24158095|PMID:24244552|PMID:24278394|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24362816|PMID:24393486|PMID:2440087|PMID:24440087|PMID:24448499|PMID:24506336|PMID:24549055|PMID:24556621|PMID:24608573|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24896128|PMID:24933000|PMID:24933100|PMID:24989436|PMID:25006859|PMID:25025451|PMID:25078279|PMID:25081409|PMID:25085752|PMID:25093288|PMID:25110875|PMID:25111426|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25194673|PMID:25203624|PMID:25213678|PMID:25224212
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25231023|PMID:25248401|PMID:25275298|PMID:25303977|PMID:25307252|PMID:25318351|PMID:25318681|PMID:25326637|PMID:25363768|PMID:25370038|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25536104|PMID:25559809|PMID:25561518|PMID:25583476|PMID:25617771|PMID:2563738|PMID:25637381|PMID:25642631|PMID:25648859|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25751794|PMID:25782445|PMID:25801821|PMID:25848751|PMID:25862369|PMID:25871441|PMID:25892863|PMID:25938944|PMID:25954033|PMID:25980754|PMID:25985138|PMID:26023681|PMID:26046366|PMID:26099011|PMID:26177554|PMID:26181448|PMID:26200421|PMID:26206375|PMID:26214590|PMID:26247049|PMID:26270727|PMID:26274037|PMID:26296696|PMID:26300997|PMID:26318770|PMID:26332594|PMID:26333163|PMID:26374070|PMID:26436109|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26446363|PMID:26457233|PMID:26467025|PMID:26483394|PMID:26485756|PMID:26517685|PMID:26530882|PMID:26544533|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26635394|PMID:26648449|PMID:26666765|PMID:26670666|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26691941|PMID:26720728|PMID:26787237|PMID:26805314|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26888055|PMID:26898890|PMID:26900293|PMID:26901136|PMID:26934580|PMID:26976419|PMID:27013479|PMID:27028851|PMID:27060149|PMID:27064304|PMID:27146957|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27300552|PMID:27329137|PMID:27331139|PMID:27363726|PMID:27372833|PMID:27376475|PMID:27380347|PMID:27398995|PMID:27432916|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27456091|PMID:27460824|PMID:27487738|PMID:27498913|PMID:27547838|PMID:27553368|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27616075|PMID:27696107|PMID:27701467|PMID:27714650|PMID:27723366|PMID:27760322|PMID:277857|PMID:27854360|PMID:27863258|PMID:27878467|PMID:27882345|PMID:27903930|PMID:27920101|PMID:27928858|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28002797|PMID:28125075|PMID:28135145|PMID:28152038|PMID:28153049|PMID:2815724|PMID:28176205|PMID:28195393|PMID:28206961|PMID:28218421|PMID:28283864|PMID:28301460|PMID:28323777|PMID:28369758|PMID:28423363|PMID:28449805|PMID:28460341|PMID:28466842|PMID:28481244|PMID:28491141|PMID:28492532|PMID:28502729|PMID:28503720|PMID:28514183|PMID:28523262|PMID:28528517|PMID:28528518|PMID:28531214|PMID:28577310|PMID:28591191|PMID:28596308|PMID:28640387|PMID:28687356|PMID:28687971|PMID:28724667|PMID:28726808|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28878254|PMID:28888541|PMID:28912153|PMID:28922847|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29044863|PMID:29107668|PMID:29130549|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29245953|PMID:29263802|PMID:29300386|PMID:29333623|PMID:29338689|PMID:29345684|PMID:29348823|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29442399|PMID:29458332|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29659569|PMID:2968408|PMID:29684080|PMID:29700634|PMID:29710228|PMID:29717530|PMID:29750335|PMID:29752822|PMID:29753700|PMID:29755653|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29880898|PMID:29887214|PMID:29915797|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29967336|PMID:29978187|PMID:30013564|PMID:30019097|PMID:30067863|PMID:30072391|PMID:30093976|PMID:30122538|PMID:30128536|PMID:30147880|PMID:30152102|PMID:30159786|PMID:30166433|PMID:30179225|PMID:30211344|PMID:30212499|PMID:30217226|PMID:30225334|PMID:30256257|PMID:30256826|PMID:30264118|PMID:30267214|PMID:30283497|PMID:30306255|PMID:30322717|PMID:30324682|PMID:30337059|PMID:30374176|PMID:30376427|PMID:30383610|PMID:30387329|PMID:30426508|PMID:3049887|PMID:30498870|PMID:30521064|PMID:30536544|PMID:30543514|PMID:30572730|PMID:30575961|PMID:30584090|PMID:30608896|PMID:30612635|PMID:30613976|PMID:30629138|PMID:30630526|PMID:30670635|PMID:30680046|PMID:30702970|PMID:30729418|PMID:30730459|PMID:30733081|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30835354
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10471527|PMID:10508506|PMID:10537275|PMID:10612827|PMID:10675480|PMID:11153917|PMID:11709755|PMID:11807791|PMID:11900875|PMID:12019211|PMID:12732731|PMID:12920072|PMID:14520694|PMID:14871975|PMID:14974087|PMID:15098177|PMID:15236168|PMID:15354210|PMID:15483016|PMID:15713769|PMID:15782118|PMID:15805151|PMID:15872200|PMID:15942939|PMID:15952900|PMID:16010685|PMID:16034045|PMID:16199547|PMID:16203774|PMID:16214425|PMID:16237223|PMID:16270383|PMID:16283884|PMID:16418736|PMID:16464007|PMID:16525781|PMID:16616355|PMID:16636019|PMID:16813607|PMID:16885385|PMID:16940983|PMID:17117178|PMID:17312306|PMID:17348456|PMID:17417778|PMID:17453009|PMID:17498565|PMID:1753181|PMID:17531815|PMID:17576681|PMID:17653898|PMID:17718861|PMID:17909073|PMID:17973265|PMID:18033691|PMID:18269114|PMID:18301448|PMID:18409202|PMID:18566915|PMID:18625694|PMID:18709565|PMID:18759827|PMID:18790734|PMID:18809606|PMID:19072991|PMID:19250818|PMID:19389263|PMID:19526325|PMID:19685280|PMID:19685281|PMID:19723918|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20007843|PMID:20028993|PMID:20176959|PMID:20301390|PMID:20487569|PMID:20587412|PMID:20600922|PMID:20682701|PMID:20924129|PMID:21035467|PMID:21039432|PMID:21056691|PMID:21081928|PMID:21120944|PMID:21153778|PMID:21155762|PMID:21437237|PMID:21520333|PMID:21642682|PMID:21674763|PMID:21836479|PMID:21868491|PMID:22006311|PMID:22081473|PMID:22102614|PMID:22144684|PMID:22204421|PMID:22250089|PMID:22277660|PMID:22290698|PMID:22306203|PMID:22493294|PMID:22495361|PMID:22581703|PMID:22658618|PMID:22851212|PMID:22863191|PMID:22886683|PMID:22949379|PMID:22949387|PMID:23047549|PMID:23104009|PMID:23464690|PMID:23523604|PMID:23588873|PMID:23621914|PMID:23652311|PMID:23700467|PMID:23729658|PMID:23733757|PMID:23755103|PMID:23773459|PMID:24033266|PMID:24040339|PMID:24068316|PMID:24100870|PMID:24244552|PMID:24307375|PMID:24323032|PMID:24351291|PMID:24356096|PMID:24362816|PMID:24393486|PMID:24440087|PMID:24549055|PMID:24689082|PMID:24710284|PMID:24728189|PMID:24728327|PMID:24763289|PMID:24933100|PMID:25006859|PMID:25093288|PMID:25117503|PMID:25133505|PMID:25142776|PMID:25186627|PMID:25203624|PMID:25248401|PMID:25303977|PMID:25318351|PMID:25318681|PMID:25419514|PMID:25430799|PMID:25479140|PMID:25525159|PMID:25559809|PMID:25561518|PMID:25617771|PMID:25637381|PMID:25670083|PMID:25712738|PMID:25740784|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26099011|PMID:26181448|PMID:26270727|PMID:26300997|PMID:26318770|PMID:26333163|PMID:26374070|PMID:26436112|PMID:26437257|PMID:26440929|PMID:26467025|PMID:26517685|PMID:26530882|PMID:26552419|PMID:26556299|PMID:26580448|PMID:26648449|PMID:26681312|PMID:26687385|PMID:26689913|PMID:26720728|PMID:26787237|PMID:26832770|PMID:26837502|PMID:26845104|PMID:26898890|PMID:26934580|PMID:26976419|PMID:27064304|PMID:27153395|PMID:27273229|PMID:27294619|PMID:27329137|PMID:27363726|PMID:27372833|PMID:27398995|PMID:27432916|PMID:27443514|PMID:27556954|PMID:27600092|PMID:27601186|PMID:27696107|PMID:27701467|PMID:27863258|PMID:27878467|PMID:27930734|PMID:27965287|PMID:27978560|PMID:27997549|PMID:28135145|PMID:28152038|PMID:28153049|PMID:28176205|PMID:28195393|PMID:28283864|PMID:28423363|PMID:28449805|PMID:28452373|PMID:28466842|PMID:28471861|PMID:28481244|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28528517|PMID:28531214|PMID:28585536|PMID:28596308|PMID:28724667|PMID:28765196|PMID:28767289|PMID:28873162|PMID:28874130|PMID:28888541|PMID:28912153|PMID:28932927|PMID:28944238|PMID:28975465|PMID:29025352|PMID:29107668|PMID:29182773|PMID:29192238|PMID:29212164|PMID:29237405|PMID:29245953|PMID:29263802|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29442399|PMID:29478780|PMID:29485237|PMID:29489754|PMID:29575718|PMID:29596542|PMID:29625052|PMID:29641532|PMID:29684080|PMID:29717530|PMID:29750335|PMID:29755653|PMID:29758562|PMID:29785153|PMID:29785566|PMID:29875428|PMID:29887214|PMID:29899834|PMID:29922827|PMID:29946849|PMID:29967336|PMID:30013564|PMID:30019097|PMID:30093976|PMID:30128536|PMID:30147880
12141324	MSH6	mutS homolog 6	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:30202019|PMID:30211344|PMID:30217226|PMID:30238922|PMID:30267214|PMID:30306255|PMID:30322717|PMID:30374176|PMID:30376427|PMID:30521064|PMID:30543514|PMID:30608896|PMID:30630526|PMID:30680046|PMID:30702970|PMID:30740824|PMID:30787465|PMID:30798936|PMID:30877237|PMID:30883245|PMID:30917047|PMID:30927264|PMID:30982232|PMID:31054147|PMID:31100584|PMID:31104363|PMID:31131953|PMID:31159747|PMID:31175329|PMID:31204389|PMID:31297992|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31422818|PMID:31428572|PMID:31491536|PMID:31588121|PMID:31589614|PMID:31604779|PMID:31642931|PMID:31647837|PMID:31721781|PMID:31742824|PMID:31744831|PMID:31815888|PMID:31830689|PMID:31852831|PMID:31857677|PMID:31927803|PMID:31965077|PMID:31997046|PMID:32002723|PMID:32009247|PMID:32019277|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32123317|PMID:32234730|PMID:32427313|PMID:32459922|PMID:32522261|PMID:32547938|PMID:32634176|PMID:32635641|PMID:32642664|PMID:32652087|PMID:32652986|PMID:32658311|PMID:32659497|PMID:32660107|PMID:32661327|PMID:32694065|PMID:32719484|PMID:32770442|PMID:32804454|PMID:32809219|PMID:32832836|PMID:32849802|PMID:32875559|PMID:32885271|PMID:32936981|PMID:32941469|PMID:32949329|PMID:32973888|PMID:32980694|PMID:32997692|PMID:33007869|PMID:33008098|PMID:33094597|PMID:33110269|PMID:33193653|PMID:33309985|PMID:33393477|PMID:33422121|PMID:33467402|PMID:33471991|PMID:33510387|PMID:33647816|PMID:33654310|PMID:33693762|PMID:33809641|PMID:33888356|PMID:34115236|PMID:34172528|PMID:34178123|PMID:34250417|PMID:34271781|PMID:34284872|PMID:34308104|PMID:34326862|PMID:34359559|PMID:34445333|PMID:34519692|PMID:34637943|PMID:34667028|PMID:34687117|PMID:34873480|PMID:34897210|PMID:34944796|PMID:34994648|PMID:35002543|PMID:35039564|PMID:35070997|PMID:35089076|PMID:35101336|PMID:35128723|PMID:35171259|PMID:35263119|PMID:35264596|PMID:35372080|PMID:35430768|PMID:35449176|PMID:35451682|PMID:35534218|PMID:35534704|PMID:35535697|PMID:35655404|PMID:35676339|PMID:35712480|PMID:35725860|PMID:35884469|PMID:35886069|PMID:35904628|PMID:36035419|PMID:36091175|PMID:36169650|PMID:36200007|PMID:36230473|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36470260|PMID:36591511|PMID:36744932|PMID:36845387|PMID:36988593|PMID:37013556|PMID:37030500|PMID:37153042|PMID:37229919|PMID:37307877|PMID:37743058|PMID:37751191|PMID:37751715|PMID:37833309|PMID:37894291|PMID:37894428|PMID:37937776|PMID:37965459|PMID:38060977|PMID:38093606|PMID:38311346|PMID:38327772|PMID:38350919|PMID:38714106|PMID:38789506|PMID:38874686|PMID:39004446|PMID:39433398|PMID:39437510|PMID:40118241|PMID:4728327|PMID:6329717|PMID:8838326|PMID:9345684|PMID:9354786|PMID:9536098|PMID:9819445
12141324	MSH6	mutS homolog 6	gene	DOID:9007150	Urogenital Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	RGD		DNA, protein:frameshift mutation, decreased expression	PMID:16288216|REF_RGD_ID:2293511
12141324	MSH6	mutS homolog 6	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of the liver	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1321738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10508506
12141324	MSH6	mutS homolog 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:9008421	Epistaxis		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:25741868
12141324	MSH6	mutS homolog 6	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321738	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	PMID:11153917|PMID:15805151|PMID:16199547|PMID:18269114|PMID:19924528|PMID:24362816|PMID:25741868|PMID:27064304|PMID:27363726|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:9009116	Urinary Bladder Neoplasm		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder neoplasm	PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:9009145	Mismatch Repair Cancer Syndrome 3		ISO	RGD:1321738	D	RGD:7240710	20201202	OMIM			
12141324	MSH6	mutS homolog 6	gene	DOID:9009145	Mismatch Repair Cancer Syndrome 3		ISO	RGD:1321738	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MISMATCH REPAIR CANCER SYNDROME 3 | ClinVar Annotator: match by term: Mismatch repair cancer syndrome 3	PMID:10471527|PMID:10537275|PMID:11153917|PMID:11900875|PMID:12019211|PMID:12732731|PMID:14520694|PMID:15236168|PMID:15483016|PMID:15805151|PMID:16813607|PMID:17973265|PMID:18269114|PMID:18301448|PMID:18566915|PMID:18790734|PMID:19851131|PMID:19851887|PMID:19924528|PMID:20028993|PMID:20301390|PMID:20487569|PMID:20924129|PMID:21120944|PMID:21155762|PMID:21437237|PMID:22006311|PMID:22081473|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23104009|PMID:23621914|PMID:23652311|PMID:24033266|PMID:24323032|PMID:24362816|PMID:24440087|PMID:24689082|PMID:24728189|PMID:25006859|PMID:25133505|PMID:25186627|PMID:25479140|PMID:25525159|PMID:25637381|PMID:25741868|PMID:26300997|PMID:26467025|PMID:26689913|PMID:26720728|PMID:26845104|PMID:26934580|PMID:27064304|PMID:27363726|PMID:27372833|PMID:27601186|PMID:27863258|PMID:27930734|PMID:28423363|PMID:28492532|PMID:28502729|PMID:28514183|PMID:28531214|PMID:28596308|PMID:28724667|PMID:28888541|PMID:28932927|PMID:28944238|PMID:29192238|PMID:29245953|PMID:29345684|PMID:29348823|PMID:29368341|PMID:29489754|PMID:29575718|PMID:29684080|PMID:29717530|PMID:29758562|PMID:29887214|PMID:30013564|PMID:30093976|PMID:30147880|PMID:30322717|PMID:30374176|PMID:30376427|PMID:31054147|PMID:31159747|PMID:31307542|PMID:31386297|PMID:31391288|PMID:31927803|PMID:31997046|PMID:32060697|PMID:32068069|PMID:32113160|PMID:32459922|PMID:32658311|PMID:32660107|PMID:32719484|PMID:32885271|PMID:32980694|PMID:33007869|PMID:33094597|PMID:33471991|PMID:34250417|PMID:34326862|PMID:34667028|PMID:35171259|PMID:35264596|PMID:35449176|PMID:35534704|PMID:35712480|PMID:35886069|PMID:36243179|PMID:36356413|PMID:36451132|PMID:36845387|PMID:36988593|PMID:37526375|PMID:39004446
12141324	MSH6	mutS homolog 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:10612827|PMID:11470537|PMID:11900875|PMID:14520694|PMID:15340264|PMID:15872200|PMID:16813607|PMID:18269114|PMID:18790734|PMID:19389263|PMID:19766128|PMID:21437237|PMID:22290698|PMID:22851212|PMID:23047549|PMID:23621914|PMID:24033266|PMID:24362816|PMID:24393486|PMID:24728327|PMID:25085752|PMID:25186627|PMID:25479140|PMID:25637381|PMID:25741868|PMID:26206375|PMID:26467025|PMID:26530882|PMID:26689913|PMID:26845104|PMID:28481244|PMID:28492532|PMID:28531214|PMID:28767289|PMID:28873162|PMID:28944238|PMID:29212164|PMID:29368341|PMID:29684080|PMID:30374176|PMID:30982232|PMID:31159747|PMID:31391288|PMID:31428572|PMID:31965077|PMID:33471991|PMID:35128723
12141324	MSH6	mutS homolog 6	gene	DOID:9256	colorectal cancer		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10537275|PMID:11900875|PMID:18269114|PMID:18790734|PMID:21437237|PMID:22851212|PMID:23621914|PMID:24362816|PMID:25637381|PMID:25741868|PMID:28492532|PMID:28531214|PMID:30374176|PMID:31391288
12141324	MSH6	mutS homolog 6	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:9452	steatotic liver disease		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:23047549|PMID:23621914|PMID:25479140|PMID:25741868|PMID:26467025|PMID:26689913|PMID:27363726|PMID:28492532|PMID:31391288|PMID:33471991
12141324	MSH6	mutS homolog 6	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1321738	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:15483016|PMID:16418736|PMID:16525781|PMID:18409202|PMID:18566915|PMID:19072991|PMID:21039432|PMID:21056691|PMID:21674763|PMID:21836479|PMID:22250089|PMID:22886683|PMID:22949379|PMID:23621914|PMID:25741868|PMID:26467025|PMID:26832770|PMID:27398995|PMID:27601186|PMID:27696107|PMID:28481244|PMID:28492532|PMID:28514183|PMID:29785566|PMID:29922827|PMID:30322717|PMID:30521064|PMID:31589614|PMID:31830689|PMID:31997046|PMID:32427313|PMID:32635641|PMID:32658311|PMID:32719484|PMID:32832836|PMID:32980694|PMID:33309985|PMID:33422121|PMID:34271781|PMID:34637943|PMID:34873480|PMID:35535697|PMID:35725860|PMID:35884469|PMID:36243179|PMID:36744932|PMID:36988593|PMID:38350919|PMID:38789506
12141324	MSH6	mutS homolog 6	gene	DOID:9834	hyperopia		ISO	RGD:1321738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17531815|PMID:23621914|PMID:25186627|PMID:25479140|PMID:25741868|PMID:27363726|PMID:28492532|PMID:33471991|PMID:34250417|PMID:34326862
12141337	PLCB3	phospholipase C beta 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy		ISO	RGD:731269	D	RGD:7240710	20200812	OMIM			
12141337	PLCB3	phospholipase C beta 3	gene	DOID:0112303	spondylometaphyseal dysplasia with corneal dystrophy		ISO	RGD:731269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLCB3-related condition | ClinVar Annotator: match by term: Spondylometaphyseal dysplasia with corneal dystrophy	PMID:25741868|PMID:28492532
12141337	PLCB3	phospholipase C beta 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:1115	sarcoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:12858	Huntington's disease		ISO	RGD:62285	D	RGD:9068941	20200609	RGD			PMID:22917585|REF_RGD_ID:13432582
12141337	PLCB3	phospholipase C beta 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:3070	high grade glioma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:4362	cervical cancer		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731269	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:5844	myocardial infarction		ISO	RGD:61993	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:9521338|REF_RGD_ID:2314514
12141337	PLCB3	phospholipase C beta 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141337	PLCB3	phospholipase C beta 3	gene	DOID:8549	chronic ulcer of skin		ISO	RGD:62285	D	RGD:9068941	20200609	RGD			PMID:10669417|REF_RGD_ID:737745
12141337	PLCB3	phospholipase C beta 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:61993	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:15362504|REF_RGD_ID:2314509
12141337	PLCB3	phospholipase C beta 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141372	CCN2	cellular communication network factor 2	gene	DOID:0051046	spondyloepimetaphyseal dysplasia, Li-Shao-Li type		ISO	RGD:731013	D	RGD:7240710	20250219	OMIM			
12141372	CCN2	cellular communication network factor 2	gene	DOID:0061155	kyphomelic dysplasia		ISO	RGD:731013	D	RGD:7240710	20250219	OMIM			
12141372	CCN2	cellular communication network factor 2	gene	DOID:0080001	bone disease		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:long bone (rat)	PMID:10679821|REF_RGD_ID:632527
12141372	CCN2	cellular communication network factor 2	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24154679
12141372	CCN2	cellular communication network factor 2	gene	DOID:10763	hypertension		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16685210
12141372	CCN2	cellular communication network factor 2	gene	DOID:11714	gestational diabetes		ISO	RGD:731013	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:34175429
12141372	CCN2	cellular communication network factor 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:19371232|REF_RGD_ID:2314517
12141372	CCN2	cellular communication network factor 2	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD			PMID:19902320|REF_RGD_ID:2314357
12141372	CCN2	cellular communication network factor 2	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium, cardiomyocyte (rat)	PMID:19293040|REF_RGD_ID:2314529
12141372	CCN2	cellular communication network factor 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17121042
12141372	CCN2	cellular communication network factor 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12141372	CCN2	cellular communication network factor 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:substantia nigra (rat)	PMID:19463894|REF_RGD_ID:2314505
12141372	CCN2	cellular communication network factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:731013	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovarian carcinoma (human)	PMID:19382180|REF_RGD_ID:2314512
12141372	CCN2	cellular communication network factor 2	gene	DOID:2773	contact dermatitis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12141372	CCN2	cellular communication network factor 2	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, glomerulus (rat)	PMID:15172885|REF_RGD_ID:1601118
12141372	CCN2	cellular communication network factor 2	gene	DOID:299	adenocarcinoma		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
12141372	CCN2	cellular communication network factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (rat)	PMID:19659652|REF_RGD_ID:2314483
12141372	CCN2	cellular communication network factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15298857|PMID:15677772|PMID:25815693|PMID:26817844
12141372	CCN2	cellular communication network factor 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:621392	D	RGD:9068941	20200609	RGD			PMID:19154443|REF_RGD_ID:2314537
12141372	CCN2	cellular communication network factor 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:731014	D	RGD:9068941	20200609	RGD			PMID:19154443|REF_RGD_ID:2314537
12141372	CCN2	cellular communication network factor 2	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20939759|PMID:21258935
12141372	CCN2	cellular communication network factor 2	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:cardiac muscle tissue (rat)	PMID:19381071|REF_RGD_ID:2314513
12141372	CCN2	cellular communication network factor 2	gene	DOID:4001	ovarian carcinoma		ISO	RGD:731013	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:30365097
12141372	CCN2	cellular communication network factor 2	gene	DOID:418	systemic scleroderma		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24706986
12141372	CCN2	cellular communication network factor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16652398|PMID:17657819|PMID:26396155
12141372	CCN2	cellular communication network factor 2	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:621392	D	RGD:9068941	20230401	RGD			PMID:36469291|REF_RGD_ID:243048439
12141372	CCN2	cellular communication network factor 2	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:731014	D	RGD:9068941	20230401	RGD			PMID:26946098|PMID:36469291|REF_RGD_ID:243048439|REF_RGD_ID:40925947
12141372	CCN2	cellular communication network factor 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney (rat)	PMID:18987110|REF_RGD_ID:2314607
12141372	CCN2	cellular communication network factor 2	gene	DOID:57	aortic valve insufficiency		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle (rat)	PMID:19112094|REF_RGD_ID:2314539
12141372	CCN2	cellular communication network factor 2	gene	DOID:57	aortic valve insufficiency		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21216836
12141372	CCN2	cellular communication network factor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:left ventricle (rat)	PMID:18167060|REF_RGD_ID:2314623
12141372	CCN2	cellular communication network factor 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:621392	D	RGD:9068941	20200716	RGD			PMID:29849775|REF_RGD_ID:35673318
12141372	CCN2	cellular communication network factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17229371
12141372	CCN2	cellular communication network factor 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:pulmonary artery (rat)	PMID:19234054|REF_RGD_ID:2314535
12141372	CCN2	cellular communication network factor 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
12141372	CCN2	cellular communication network factor 2	gene	DOID:850	lung disease		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20939759|PMID:21258935
12141372	CCN2	cellular communication network factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA:increased expression:retina (rat)	PMID:19450451|REF_RGD_ID:2314507
12141372	CCN2	cellular communication network factor 2	gene	DOID:9000784	Fibrosis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD			PMID:18790236|REF_RGD_ID:2314612
12141372	CCN2	cellular communication network factor 2	gene	DOID:9000855	Experimental Radiation Injuries		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:19080126|REF_RGD_ID:2314603
12141372	CCN2	cellular communication network factor 2	gene	DOID:9000972	Fever		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:meninges (rat)	PMID:19582783|REF_RGD_ID:2314489
12141372	CCN2	cellular communication network factor 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258935
12141372	CCN2	cellular communication network factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:19856102|REF_RGD_ID:2314367
12141372	CCN2	cellular communication network factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12141372	CCN2	cellular communication network factor 2	gene	DOID:9002055	Chronic Allograft Nephropathy	disease_progression	ISO	RGD:621392	D	RGD:9068941	20211015	RGD		mRNA, protein:increased expression:kidney (rat)	PMID:19921985|REF_RGD_ID:150517553
12141372	CCN2	cellular communication network factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; mRNA, protein:increased expression:kidney (rat)	PMID:19065061|REF_RGD_ID:2314604
12141372	CCN2	cellular communication network factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:kidney, glomerulus (rat)	PMID:19895808|REF_RGD_ID:2314366
12141372	CCN2	cellular communication network factor 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:621392	D	RGD:9068941	20250208	RGD			PMID:34018383|REF_RGD_ID:597621686
12141372	CCN2	cellular communication network factor 2	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:621392	D	RGD:9068941	20241212	RGD			PMID:32585450|REF_RGD_ID:41410783
12141372	CCN2	cellular communication network factor 2	gene	DOID:9003291	Aggressive Fibromatosis		ISO	RGD:731013	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (human)	PMID:19366727|REF_RGD_ID:2314525
12141372	CCN2	cellular communication network factor 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621392	D	RGD:9068941	20200609	RGD			PMID:19707545|REF_RGD_ID:2314476
12141372	CCN2	cellular communication network factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421
12141372	CCN2	cellular communication network factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:heart, myocardium (rat)	PMID:19820199|REF_RGD_ID:2314021
12141372	CCN2	cellular communication network factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621392	D	RGD:9068941	20230302	RGD		mRNA:increased expression:heart left ventricle (rat)	PMID:19625611|REF_RGD_ID:2314487
12141372	CCN2	cellular communication network factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:621392	D	RGD:9068941	20250206	RGD			PMID:34018385|REF_RGD_ID:597621665
12141372	CCN2	cellular communication network factor 2	gene	DOID:9005749	Necrosis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (rat)	PMID:19395590|REF_RGD_ID:2314511
12141372	CCN2	cellular communication network factor 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:arterial wall (rat)	PMID:19570811|REF_RGD_ID:2314490
12141372	CCN2	cellular communication network factor 2	gene	DOID:9006709	Primary Graft Dysfunction	exacerbates	ISO	RGD:621392	D	RGD:9068941	20211126	RGD		protein:increased expression:urine (rat)	PMID:19921985|REF_RGD_ID:150517553
12141372	CCN2	cellular communication network factor 2	gene	DOID:9007456	Female Infertility		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21868453
12141372	CCN2	cellular communication network factor 2	gene	DOID:9007661	Dwarfism		ISO	RGD:731014	D	RGD:9068941	20200609	RGD			PMID:11237711|REF_RGD_ID:734846
12141372	CCN2	cellular communication network factor 2	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:731013	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17657819
12141372	CCN2	cellular communication network factor 2	gene	DOID:9008604	Radiation Pneumonitis	treatment	ISO	RGD:621392	D	RGD:9068941	20250306	RGD			PMID:34036875|REF_RGD_ID:597830143
12141372	CCN2	cellular communication network factor 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:left ventricle (rat)	PMID:19902320|REF_RGD_ID:2314357
12141372	CCN2	cellular communication network factor 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		mRNA:increased expression:right ventricle (rat)	PMID:19602618|REF_RGD_ID:2314488
12141372	CCN2	cellular communication network factor 2	gene	DOID:971	tendinitis		ISO	RGD:621392	D	RGD:9068941	20200609	RGD		protein:increased expression:flexor digitorum profundus, flexor digitorum superficialis, fibroblast (rat)	PMID:19743505|REF_RGD_ID:2314473
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1348361	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:9006204	Oocyte/Zygote/Embryo Maturation Arrest 19		ISO	RGD:1348361	D	RGD:7240710	20230505	OMIM			
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:9006204	Oocyte/Zygote/Embryo Maturation Arrest 19		ISO	RGD:1348361	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NLRP5-related condition | ClinVar Annotator: match by term: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 19 | ClinVar Annotator: match by term: Oocyte/zygote/embryo maturation arrest 19 | ClinVar Annotator: match by term: oocyte/zygote/embryo maturation arrest 19	PMID:25741868|PMID:28492532
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141381	NLRP5	NLR family pyrin domain containing 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348361	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:1059	intellectual disability		ISO	RGD:1317140	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:1909	melanoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:4362	cervical cancer		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:6039	uveal melanoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:8778	Crohn's disease		ISO	RGD:1317140	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:36038634
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141398	ATG4C	autophagy related 4C cysteine peptidase	gene	DOID:9256	colorectal cancer		ISO	RGD:1317140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12141426	ZNF182	zinc finger protein 182	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141426	ZNF182	zinc finger protein 182	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141426	ZNF182	zinc finger protein 182	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141452	KRT40	keratin 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141463	LOC608550	ferritin heavy chain-like	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:5041	esophageal cancer		ISO	RGD:1602866	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:8501	fundus dystrophy		ISO	RGD:1602866	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141468	CCDC51	coiled-coil domain containing 51	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602866	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141507	LPL	lipoprotein lipase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10533957
12141507	LPL	lipoprotein lipase	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:28442378|REF_RGD_ID:13794376
12141507	LPL	lipoprotein lipase	gene	DOID:0080000	muscular disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD			PMID:7635990|REF_RGD_ID:1302535
12141507	LPL	lipoprotein lipase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:27978932|PMID:30214514|REF_RGD_ID:13793398|REF_RGD_ID:13794377
12141507	LPL	lipoprotein lipase	gene	DOID:0080600	COVID-19		ISO	RGD:70836	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12141507	LPL	lipoprotein lipase	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:70836	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:28492532|PMID:32041611|PMID:33303402
12141507	LPL	lipoprotein lipase	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12141507	LPL	lipoprotein lipase	gene	DOID:0111422	familial lipase maturation factor 1 deficiency		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LPL AND HTGL DEFICIENCY	PMID:25741868|PMID:31130284
12141507	LPL	lipoprotein lipase	gene	DOID:10608	celiac disease		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD			PMID:24004859|REF_RGD_ID:13793392
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs268, rs328 (human)	PMID:16013913|REF_RGD_ID:5685661
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.N291S, p.S447X (human)	PMID:10206232|REF_RGD_ID:13799353
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron	PMID:15331147|REF_RGD_ID:13793396
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:27897113|REF_RGD_ID:13793395
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA:point mutations: :p.N291S, p.S447X (human)	PMID:12133567|REF_RGD_ID:13793397
12141507	LPL	lipoprotein lipase	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:70836	D	RGD:9068941	20200609	RGD		DNA, mRNA:SNP, decreased expression: :rs285 (human)	PMID:16965549|REF_RGD_ID:13793393
12141507	LPL	lipoprotein lipase	gene	DOID:10763	hypertension		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12141507	LPL	lipoprotein lipase	gene	DOID:10763	hypertension		ISO	RGD:70836	D	RGD:9068941	20200806	RGD			PMID:16132104|REF_RGD_ID:1580535
12141507	LPL	lipoprotein lipase	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
12141507	LPL	lipoprotein lipase	gene	DOID:1168	familial hyperlipidemia	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:29931882|REF_RGD_ID:13794383
12141507	LPL	lipoprotein lipase	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	
12141507	LPL	lipoprotein lipase	gene	DOID:1287	cardiovascular system disease		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16544732
12141507	LPL	lipoprotein lipase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:70836	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE	PMID:28492532|PMID:32041611|PMID:33303402
12141507	LPL	lipoprotein lipase	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:14531811|REF_RGD_ID:2308781
12141507	LPL	lipoprotein lipase	gene	DOID:1324	lung cancer		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:7240710	20180130	OMIM			
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10364086|PMID:10517255|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26975783|PMID:27055971|PMID:27142713|PMID:27150867|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:30150141|PMID:30210108|PMID:31589614|PMID:31619059|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:9401010|PMID:9550358|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to	PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31589614|PMID:31619059|PMID:31669931|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:34635320|PMID:35309119|PMID:35368694|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia, familial combined | ClinVar Annotator: match by term: Hyperlipidemia, familial combined, susceptibility to | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10359734|PMID:10364086|PMID:10517255|PMID:10560236|PMID:10619999|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17717288|PMID:18068174|PMID:18350203|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1969408|PMID:1975597|PMID:2038366|PMID:20650961|PMID:21146168|PMID:21159338|PMID:22095987|PMID:22239554|PMID:22691586|PMID:23212406|PMID:23357145|PMID:23484243|PMID:2394828|PMID:24033266|PMID:24291057|PMID:24366202|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28502509|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:34363016|PMID:34635320|PMID:35309119|PMID:35368694|PMID:35837325|PMID:36555767|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7753827|PMID:7906986|PMID:8096693|PMID:8099055|PMID:8199176|PMID:8541837|PMID:8732773|PMID:8808493|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9401010|PMID:9550358|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED HYPERLIPIDEMIA, FAMILIAL, SUSCEPTIBILITY TO	PMID:7753827|PMID:9017514
12141507	LPL	lipoprotein lipase	gene	DOID:14118	familial lipoprotein lipase deficiency		ISO	RGD:70836	D	RGD:7240710	20180130	OMIM			
12141507	LPL	lipoprotein lipase	gene	DOID:14118	familial lipoprotein lipase deficiency		ISO	RGD:70836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I	PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11893776|PMID:12204001|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:16199547|PMID:16278884|PMID:1639392|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:1752947|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:1907278|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24627108|PMID:24646025|PMID:24793350|PMID:2536938|PMID:25741868|PMID:25966443|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27142713|PMID:27153815|PMID:27573733|PMID:28267856|PMID:28438574|PMID:28492532|PMID:28606150|PMID:28951076|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:31619059|PMID:6645961|PMID:7647785|PMID:7818530|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8843465|PMID:8858123|PMID:8872057|PMID:9225235|PMID:9279761|PMID:9401010|PMID:9550358|PMID:9714430|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:14118	familial lipoprotein lipase deficiency		ISO	RGD:70836	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I | ClinVar Annotator: match by term: LPL-related condition | ClinVar Annotator: match by term: Lipase D deficiency	PMID:10359734|PMID:10364086|PMID:10407505|PMID:10431049|PMID:10517255|PMID:10560236|PMID:10619999|PMID:10735636|PMID:11134145|PMID:11260209|PMID:11334614|PMID:11468054|PMID:11730817|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:1505655|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1530621|PMID:1562620|PMID:1576758|PMID:15840743|PMID:15877202|PMID:1598907|PMID:16174715|PMID:1619366|PMID:16199547|PMID:16278884|PMID:1639392|PMID:16431216|PMID:1674945|PMID:16972177|PMID:1702428|PMID:1730727|PMID:1731801|PMID:1737848|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17576681|PMID:17717288|PMID:18068174|PMID:1833777|PMID:18350203|PMID:18649389|PMID:1872917|PMID:18922999|PMID:19034041|PMID:1907278|PMID:19335919|PMID:1937490|PMID:1969408|PMID:1975597|PMID:2010533|PMID:2038366|PMID:20650961|PMID:2110364|PMID:21146168|PMID:21159338|PMID:2121025|PMID:22095987|PMID:22129523|PMID:22239554|PMID:22691586|PMID:2294743|PMID:23212406|PMID:23246289|PMID:23357145|PMID:23484243|PMID:2349938|PMID:2394828|PMID:24033266|PMID:24081181|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24507774|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24747307|PMID:24793350|PMID:25034063|PMID:2536938|PMID:25525159|PMID:25741868|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:26975783|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:27206937|PMID:27573733|PMID:28008009|PMID:28267856|PMID:28438574|PMID:28445021|PMID:28492532|PMID:28502509|PMID:28548960|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:2914262|PMID:29153744|PMID:29288010|PMID:29431110|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30333156|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30559189|PMID:31153847|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32332168|PMID:32472350|PMID:33217533|PMID:33303402|PMID:33588820|PMID:33879184|PMID:34324844|PMID:34363016|PMID:34635320|PMID:35309119|PMID:35368694|PMID:35837325|PMID:36325899|PMID:36476373|PMID:36555767|PMID:36991406|PMID:38025240|PMID:6645961|PMID:7607318|PMID:7647785|PMID:7818530|PMID:7897314|PMID:7906986|PMID:8077845|PMID:8096693|PMID:8099055|PMID:8135797|PMID:8199176|PMID:8228642|PMID:8288243|PMID:8325986|PMID:8486765|PMID:8541837|PMID:8567671|PMID:8732773|PMID:8808493|PMID:8843465|PMID:8858123|PMID:8872057|PMID:8956048|PMID:8973094|PMID:9225235|PMID:9279761|PMID:9323055|PMID:9401010|PMID:9536098|PMID:9550358|PMID:9714430|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:14118	familial lipoprotein lipase deficiency		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Lipoprotein Lipase Deficiency | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I | ClinVar Annotator: match by term: LIPOPROTEIN LIPASE DEFICIENCY | ClinVar Annotator: match by term: LPL-related condition | ClinVar Annotator: match by term: Lipoprotein lipase deficiency	PMID:10359734|PMID:10407506|PMID:10431049|PMID:10560236|PMID:10619999|PMID:10660334|PMID:10735636|PMID:11334614|PMID:11468054|PMID:11730817|PMID:11751882|PMID:11893776|PMID:12204001|PMID:12655575|PMID:12839295|PMID:12883259|PMID:12905705|PMID:1351946|PMID:1371284|PMID:1400331|PMID:1479292|PMID:15013626|PMID:1511985|PMID:1512512|PMID:1521525|PMID:1562620|PMID:15877202|PMID:1598907|PMID:1619366|PMID:16199547|PMID:16278884|PMID:16431216|PMID:16972177|PMID:1730727|PMID:17476032|PMID:1752947|PMID:17560523|PMID:17576681|PMID:18068174|PMID:1833777|PMID:18922999|PMID:19000906|PMID:19034041|PMID:19295657|PMID:19447100|PMID:1969408|PMID:1975597|PMID:2010533|PMID:20301485|PMID:2038366|PMID:2110364|PMID:21159338|PMID:22095987|PMID:22129523|PMID:22239554|PMID:23212406|PMID:23357145|PMID:23415432|PMID:23484243|PMID:2349938|PMID:23685560|PMID:24212298|PMID:24291057|PMID:24366202|PMID:24497850|PMID:24503134|PMID:24591733|PMID:24627108|PMID:24646025|PMID:24704550|PMID:24747307|PMID:24788417|PMID:24793350|PMID:25525159|PMID:25741868|PMID:25936310|PMID:25966443|PMID:26079787|PMID:26156051|PMID:26337181|PMID:26342331|PMID:26892137|PMID:27055971|PMID:27097985|PMID:27142713|PMID:27150867|PMID:27153815|PMID:2719595|PMID:27206937|PMID:28267856|PMID:28438574|PMID:28445021|PMID:28492532|PMID:28548960|PMID:28606150|PMID:28695157|PMID:28951076|PMID:28958672|PMID:29054425|PMID:29153744|PMID:29288010|PMID:29479812|PMID:29748148|PMID:29921298|PMID:30150141|PMID:30210108|PMID:30352774|PMID:30389453|PMID:30420299|PMID:30655019|PMID:30685441|PMID:31130284|PMID:31352695|PMID:31589614|PMID:31619059|PMID:31669931|PMID:31901151|PMID:32041611|PMID:32472350|PMID:32703455|PMID:33217533|PMID:33303402|PMID:33588820|PMID:33879184|PMID:34087978|PMID:34324844|PMID:34363016|PMID:34544385|PMID:34635320|PMID:34828789|PMID:35085586|PMID:35309119|PMID:35368694|PMID:35669187|PMID:35820489|PMID:35837325|PMID:35923617|PMID:35960041|PMID:36152419|PMID:36325899|PMID:36689289|PMID:36879129|PMID:37858495|PMID:38025240|PMID:38933898|PMID:39858602|PMID:39873189|PMID:4793350|PMID:7897314|PMID:7906986|PMID:7912254|PMID:8077845|PMID:8099055|PMID:8135797|PMID:8228642|PMID:8288243|PMID:8301230|PMID:8325986|PMID:8486765|PMID:8728326|PMID:8843465|PMID:8973094|PMID:9279761|PMID:9298816|PMID:9401010|PMID:9536098|PMID:9714430|PMID:9811888
12141507	LPL	lipoprotein lipase	gene	DOID:14221	abdominal obesity-metabolic syndrome 1	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:26996629|REF_RGD_ID:13794382
12141507	LPL	lipoprotein lipase	gene	DOID:1883	hepatitis C		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17517063
12141507	LPL	lipoprotein lipase	gene	DOID:2513	basal cell carcinoma		ISO	RGD:70836	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12141507	LPL	lipoprotein lipase	gene	DOID:305	carcinoma		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12141507	LPL	lipoprotein lipase	gene	DOID:3393	coronary artery disease		ISO	RGD:70836	D	RGD:9068941	20200609	RGD			PMID:8641022|REF_RGD_ID:1580537
12141507	LPL	lipoprotein lipase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12141507	LPL	lipoprotein lipase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12141507	LPL	lipoprotein lipase	gene	DOID:4989	pancreatitis		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Recurrent pancreatitis	PMID:25741868
12141507	LPL	lipoprotein lipase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:70836	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP: :p.D9N (rs1801177) (human)	PMID:18823627|REF_RGD_ID:2313302
12141507	LPL	lipoprotein lipase	gene	DOID:630	genetic disease		ISO	RGD:70836	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12141507	LPL	lipoprotein lipase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12141507	LPL	lipoprotein lipase	gene	DOID:783	end stage renal disease		ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:22009636|REF_RGD_ID:6909179
12141507	LPL	lipoprotein lipase	gene	DOID:9000288	Chronic Intermittent Hypoxia	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:29968701|REF_RGD_ID:13793400
12141507	LPL	lipoprotein lipase	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12141507	LPL	lipoprotein lipase	gene	DOID:9000528	Coronary Disease		ISO	RGD:3017	D	RGD:9068941	20260521	RGD			PMID:27000070|REF_RGD_ID:13794381
12141507	LPL	lipoprotein lipase	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21852083
12141507	LPL	lipoprotein lipase	gene	DOID:9000810	HYPERTRIGLYCERIDEMIA 1		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypertriglyceridemia	
12141507	LPL	lipoprotein lipase	gene	DOID:9000972	Fever		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fever	PMID:23357145|PMID:25741868|PMID:25936310|PMID:25966443|PMID:27055971|PMID:28267856|PMID:29748148|PMID:32041611|PMID:34544385|PMID:35309119|PMID:36325899|PMID:39858602
12141507	LPL	lipoprotein lipase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12141507	LPL	lipoprotein lipase	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:70836	D	RGD:9068941	20200609	RGD			PMID:16813599|REF_RGD_ID:2306755
12141507	LPL	lipoprotein lipase	gene	DOID:9002180	Familial Hyperchylomicronemia Syndrome		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipoproteinemia type 1	PMID:25741868|PMID:28492532|PMID:32041611|PMID:33303402
12141507	LPL	lipoprotein lipase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15386377
12141507	LPL	lipoprotein lipase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12141507	LPL	lipoprotein lipase	gene	DOID:9003370	Dyslipidemias		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952847
12141507	LPL	lipoprotein lipase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12376462
12141507	LPL	lipoprotein lipase	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
12141507	LPL	lipoprotein lipase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:18780778|REF_RGD_ID:2313303
12141507	LPL	lipoprotein lipase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:27158912|REF_RGD_ID:13794379
12141507	LPL	lipoprotein lipase	gene	DOID:9005734	Abdominal Pain		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	
12141507	LPL	lipoprotein lipase	gene	DOID:9005749	Necrosis		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10533957
12141507	LPL	lipoprotein lipase	gene	DOID:9005911	Hyperapobetalipoproteinemia		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperapobetalipoproteinemia	PMID:25741868
12141507	LPL	lipoprotein lipase	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:23357145|PMID:25741868|PMID:25936310|PMID:25966443|PMID:27055971|PMID:28267856|PMID:28492532|PMID:29748148|PMID:32041611|PMID:34544385|PMID:35309119|PMID:36325899|PMID:39858602
12141507	LPL	lipoprotein lipase	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:70836	D	RGD:9068941	20200609	RGD			PMID:17848837|REF_RGD_ID:2313305
12141507	LPL	lipoprotein lipase	gene	DOID:9006680	Hyperventilation		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperventilation	PMID:23357145|PMID:25741868|PMID:25936310|PMID:25966443|PMID:27055971|PMID:28267856|PMID:29748148|PMID:32041611|PMID:34544385|PMID:35309119|PMID:36325899|PMID:39858602
12141507	LPL	lipoprotein lipase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:27071702|REF_RGD_ID:13794380
12141507	LPL	lipoprotein lipase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:10876	D	RGD:9068941	20200609	RGD			PMID:18952837|REF_RGD_ID:2313300
12141507	LPL	lipoprotein lipase	gene	DOID:9008385	Vomiting		ISO	RGD:70836	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25034063|PMID:25741868|PMID:28492532|PMID:28548960|PMID:36991406
12141507	LPL	lipoprotein lipase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:70836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12141507	LPL	lipoprotein lipase	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:29981201|REF_RGD_ID:13793399
12141507	LPL	lipoprotein lipase	gene	DOID:9452	steatotic liver disease		ISO	RGD:70836	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
12141507	LPL	lipoprotein lipase	gene	DOID:9970	obesity		ISO	RGD:10876	D	RGD:9068941	20200609	RGD			PMID:18952837|REF_RGD_ID:2313300
12141507	LPL	lipoprotein lipase	gene	DOID:9970	obesity		ISO	RGD:3017	D	RGD:9068941	20200609	RGD		mRNA:increased expression:white fat	PMID:17712951|REF_RGD_ID:2313580
12141507	LPL	lipoprotein lipase	gene	DOID:9970	obesity		ISO	RGD:70836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18344982
12141507	LPL	lipoprotein lipase	gene	DOID:9970	obesity	treatment	ISO	RGD:3017	D	RGD:9068941	20200609	RGD			PMID:27160499|PMID:28514832|REF_RGD_ID:13793401|REF_RGD_ID:13794378
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:0050625	biliary tract benign neoplasm		ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		protein:increased expression:biliary epithelium (human)	PMID:16505435|REF_RGD_ID:2317415
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:0050908	myelodysplastic syndrome	no_association	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:309T>G(rs2279744)(human)	PMID:22668018|REF_RGD_ID:11073731
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14555611
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:10534	stomach cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:10923	sickle cell anemia		ISO	RGD:1313300	D	RGD:9068941	20200609	RGD			PMID:21085184|REF_RGD_ID:10412315
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bladder	PMID:27798881|REF_RGD_ID:13602098
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1115	sarcoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:12336	male infertility		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22773013
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1324	lung cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:13677	SAPHO syndrome		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19779722
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to	PMID:15550242|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:28492532|PMID:9536098
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to | ClinVar Annotator: match by term: Neoplasm | ClinVar Annotator: match by term: Neoplasms	PMID:15550242|PMID:16199547|PMID:16258005|PMID:17003841|PMID:17360557|PMID:17576681|PMID:19521721|PMID:23653682|PMID:28492532|PMID:9536098
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313299	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Accelerated tumor formation, susceptibility to	PMID:16199547|PMID:17576681|PMID:23653682|PMID:25741868|PMID:28492532|PMID:9536098
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1612	breast cancer		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased expression:breast tumor (rat)	PMID:15844214|REF_RGD_ID:2293626
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1697	ichthyosis		ISO	RGD:1313299	D	RGD:9068941	20200609	RGD			PMID:24005053|REF_RGD_ID:10412066
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1697	ichthyosis	treatment	ISO	RGD:1305332	D	RGD:9068941	20200609	RGD			PMID:24005053|REF_RGD_ID:10412066
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:1909	melanoma		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17210701
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD			PMID:23174211|REF_RGD_ID:10412309
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1305332	D	RGD:9068941	20200609	RGD			PMID:24334056|REF_RGD_ID:10412310
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:3068	glioblastoma		ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		DNA:amplication	PMID:23796897|REF_RGD_ID:13702089
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:3587	pancreatic ductal carcinoma	onset	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		DNA:snp:promoter, intron:IVS1+309T>G (human)	PMID:19752772|REF_RGD_ID:2317414
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (human)	PMID:15810085|REF_RGD_ID:2317416
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:3669	intermittent claudication	treatment	ISO	RGD:1305332	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19941079|PMID:21268124
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:409	liver disease	onset	ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased expression:Enzyme altered focus (rat)	PMID:14555611|REF_RGD_ID:2317409
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:15619210|REF_RGD_ID:2317417
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12878215
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		DNA:transversion:promoter:g.-309T>G (human)	PMID:20019189|REF_RGD_ID:2317357
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:8552	chronic myeloid leukemia	onset	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs2279744(human)	PMID:23818300|REF_RGD_ID:13703044
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord	PMID:23595775|REF_RGD_ID:10412063
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313299	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: marker/mechanism	PMID:31945315
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9000998	Brain Injuries		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased expression:brain cortex (rat)	PMID:15165363|REF_RGD_ID:2317397
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebrum (rat)	PMID:15563574|REF_RGD_ID:2317395
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20875869
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9002395	Hypothermia		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury; protein:increased expression:hippocampus (rat)	PMID:15777295|REF_RGD_ID:2317393
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9002644	Premature Aging		ISO	RGD:1313300	D	RGD:9068941	20200609	RGD			PMID:23766372|REF_RGD_ID:10412052
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9003020	Chemotherapy-Induced Febrile Neutropenia	susceptibility	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;DNA:SNP:cds:309T>G(rs2279744)(human)	PMID:21706156|REF_RGD_ID:11073725
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9003292	Intracranial Subdural Hematoma	treatment	ISO	RGD:1305332	D	RGD:9068941	20230128	RGD			PMID:34334113|REF_RGD_ID:155882538
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9004277	Lessel-Kubisch Syndrome		ISO	RGD:1313299	D	RGD:7240710	20260729	OMIM			
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9004277	Lessel-Kubisch Syndrome		ISO	RGD:1313299	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lessel-kubisch syndrome | ClinVar Annotator: match by term: MDM2-related condition	PMID:25741868|PMID:28492532
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD		associated with Small Cell Lung Carcinoma;DNA:SNP::rs2279744(human)	PMID:24732641|REF_RGD_ID:11073715
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9005396	Intimal Hyperplasia	treatment	ISO	RGD:1313300	D	RGD:9068941	20200609	RGD			PMID:21498419|REF_RGD_ID:10412065
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased degradation:myocardium	PMID:23530877|REF_RGD_ID:10412313
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9007558	Acute Experimental Pancreatitis		ISO	RGD:1305332	D	RGD:9068941	20241024	RGD		protein:increased expression:pancreas (rat)	PMID:19850968|REF_RGD_ID:2317361
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1313299	D	RGD:7240710	20260729	OMIM			
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased serine phosphorylation:heart ventricle (rat)	PMID:14644432|REF_RGD_ID:2317401
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26229107
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1313299	D	RGD:9068941	20200609	RGD			PMID:11064355|REF_RGD_ID:11251749
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9256	colorectal cancer		ISO	RGD:1313299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12141521	MDM2	MDM2 proto-oncogene	gene	DOID:9286	priapism		ISO	RGD:1305332	D	RGD:9068941	20200609	RGD		protein:increased expression:corpus cavernosum	PMID:21085184|REF_RGD_ID:10412315
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:733744	D	RGD:7240710	20190315	OMIM			
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0050715	methylmalonic aciduria and homocystinuria type cblC		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PRDX1-related condition	PMID:28492532
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0060058	lymphoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12141544	PRDX1	peroxiredoxin 1	gene	DOID:0080600	COVID-19		ISO	RGD:733744	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12141544	PRDX1	peroxiredoxin 1	gene	DOID:10320	asbestosis		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
12141544	PRDX1	peroxiredoxin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:1395	schistosomiasis		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19041905
12141544	PRDX1	peroxiredoxin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:3070	high grade glioma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:3275	thymoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12141544	PRDX1	peroxiredoxin 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
12141544	PRDX1	peroxiredoxin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733744	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:630	genetic disease		ISO	RGD:733744	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12141544	PRDX1	peroxiredoxin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9000058	Keloid		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15986332
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27517622
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:733744	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22537621
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9005614	Methylmalonic Aciduria and Homocystinuria		ISO	RGD:733744	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	
12141544	PRDX1	peroxiredoxin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733744	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:10534	stomach cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:1115	sarcoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:1324	lung cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1354342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:1354342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:31959358
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141554	ATP6V1C2	ATPase H+ transporting V1 subunit C2	gene	DOID:9256	colorectal cancer		ISO	RGD:1354342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12141574	ABRACL	ABRA C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141574	ABRACL	ABRA C-terminal like	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12141574	ABRACL	ABRA C-terminal like	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1351168	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:10534	stomach cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:1324	lung cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141582	NUDT5	nudix hydrolase 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:0081130	BH4-deficient hyperphenylalaninemia C		ISO	RGD:734380	D	RGD:7240710	20180130	OMIM			
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:0081130	BH4-deficient hyperphenylalaninemia C		ISO	RGD:734380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dihydropteridine reductase deficiency | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C | ClinVar Annotator: match by term: QDPR DEFICIENCY	PMID:10408783|PMID:11153907|PMID:11694255|PMID:1283784|PMID:16199547|PMID:16917893|PMID:17188538|PMID:17576681|PMID:18060820|PMID:18425437|PMID:19099731|PMID:21890392|PMID:23138986|PMID:24033266|PMID:25124972|PMID:25155776|PMID:25741868|PMID:26006720|PMID:26589311|PMID:27243974|PMID:27246466|PMID:28492532|PMID:29499199|PMID:29594647|PMID:30109838|PMID:30221392|PMID:3099067|PMID:32905092|PMID:33822819|PMID:33903016|PMID:33977029|PMID:34214291|PMID:34485013|PMID:34997870|PMID:36313470|PMID:36382472|PMID:36646061|PMID:37818795|PMID:39346013|PMID:40336053|PMID:40598568|PMID:7627180|PMID:7783174|PMID:8304097|PMID:8326489|PMID:8518287|PMID:9341885|PMID:9536098|PMID:9744478
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:10534	stomach cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:10763	hypertension		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta smooth muscle (rat)	PMID:19743417|REF_RGD_ID:5128580
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:1324	lung cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:1824	status epilepticus		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:17366478|REF_RGD_ID:5128581
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:3275	thymoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:630	genetic disease		ISO	RGD:734380	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:734380	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain (rat)	PMID:2758679|REF_RGD_ID:5128601
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9008914	Lead Poisoning		ISO	RGD:619915	D	RGD:9068941	20200609	RGD		protein:increased activity:brain, caudate nucleus (rat)	PMID:2359144|REF_RGD_ID:5128598
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9256	colorectal cancer		ISO	RGD:734380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10408783|PMID:11153907|PMID:16199547|PMID:25741868|PMID:28492532|PMID:32905092|PMID:7627180|PMID:9744478
12141599	QDPR	quinoid dihydropteridine reductase	gene	DOID:9281	phenylketonuria		ISO	RGD:734380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Phenylketonuria type 2	PMID:10408783|PMID:11153907|PMID:16199547|PMID:25155776|PMID:25741868|PMID:27246466|PMID:28492532|PMID:32905092|PMID:33903016|PMID:37818795|PMID:7627180|PMID:9744478
12141610	DNAI3	dynein axonemal intermediate chain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141610	DNAI3	dynein axonemal intermediate chain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605003	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141610	DNAI3	dynein axonemal intermediate chain 3	gene	DOID:9000983	Encephalocele		ISO	RGD:1605003	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: occipital encephalocele	PMID:29285825
12141610	DNAI3	dynein axonemal intermediate chain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:1353839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143598
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1353839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital hypogonadotropic hypogonadism	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0111140	IGSF1 deficiency syndrome		ISO	RGD:1353839	D	RGD:7240710	20180130	OMIM			
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:0111140	IGSF1 deficiency syndrome		ISO	RGD:1353839	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT | ClinVar Annotator: match by term: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT | ClinVar Annotator: match by term: IGSF1-related condition | ClinVar Annotator: match by term: X-linked central congenital hypothyroidism with late-onset testicular enlargement	PMID:23966245|PMID:25741868|PMID:26840047|PMID:28492532
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: autism	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:2519	testicular disease		ISO	RGD:1353839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143598
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:630	genetic disease		ISO	RGD:1353839	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141645	IGSF1	immunoglobulin superfamily member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060058	lymphoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1313282	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10488	imperforate anus		ISO	RGD:1313282	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:1909	melanoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:2043	hepatitis B		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver, blood serum (human)	PMID:21196414|REF_RGD_ID:151347673
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3275	thymoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		protein:increased expression:lung (human)	PMID:33510968|REF_RGD_ID:151347681
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:28306189|REF_RGD_ID:151347678
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:3910	lung adenocarcinoma	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:lung (human)	PMID:22824148|REF_RGD_ID:151347677
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1313282	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:37126546
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:21196414|REF_RGD_ID:151347673
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human recombinant gene and cell line in a mouse model	PMID:27010469|REF_RGD_ID:151347674
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		human cell line in a mouse model	PMID:31922225|REF_RGD_ID:151347839
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1313282	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313282	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA:increased expression:colorectum (human)	PMID:25602366|REF_RGD_ID:151347676
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA:splicing variants:colorectum (human)	PMID:29138007|REF_RGD_ID:151347675
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		mRNA, protein:increased expression:colorectum, lymph node, blood serum (human)	PMID:27882171|REF_RGD_ID:151347679
12141684	MAP4K4	mitogen-activated protein kinase kinase kinase kinase 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1313282	D	RGD:9068941	20220204	RGD		protein:increased expression:colorectum (human)	PMID:20077526|REF_RGD_ID:151347680
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:0060046	aphasia		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:23334463|PMID:24463626|PMID:25741868|PMID:28492532
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:0060230	basal ganglia calcification		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification	PMID:16199547|PMID:23334463|PMID:23939468|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1059	intellectual disability		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1115	sarcoma		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:12215	oligohydramnios		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1555	urticaria		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urticaria	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:182	calcinosis		ISO	RGD:733735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1826	epilepsy		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:1909	melanoma		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:2030	anxiety disorder		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:2234	focal epilepsy		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:594	panic disorder		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panic attack	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:630	genetic disease		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29955172
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:6364	migraine		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:679	basal ganglia disease		ISO	RGD:733735	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25938945
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:8725	vascular dementia		ISO	RGD:733735	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:35307828
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9000053	Headache		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:16199547|PMID:23334463|PMID:23939468|PMID:25741868|PMID:28492532
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9001738	Hypercalciuria		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:16199547|PMID:23334463|PMID:23939468|PMID:25741868|PMID:28492532
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9003242	Paresthesia		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:16199547|PMID:23334463|PMID:23939468|PMID:25741868|PMID:28492532
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9006743	Spasm		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:733735	D	RGD:7240710	20180130	OMIM			
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9007546	Idiopathic Basal Ganglia Calcification 1		ISO	RGD:733735	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 | ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition	PMID:16199547|PMID:20301594|PMID:22327515|PMID:23334463|PMID:23437308|PMID:23939468|PMID:24209445|PMID:24463626|PMID:25178512|PMID:25284758|PMID:25741868|PMID:26475232|PMID:27943094|PMID:28391956|PMID:28477710|PMID:28492532|PMID:29680161|PMID:30609140|PMID:30704756|PMID:31618668|PMID:31754123|PMID:33144682|PMID:34267336|PMID:34732400|PMID:35881308|PMID:36977836|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9007573	Flatfoot		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9007845	Encopresis		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encopresis	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9007923	Back Pain		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Back pain	PMID:23334463|PMID:25741868|PMID:28492532|PMID:37547187
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9008702	Idiopathic Basal Ganglia Calcification, Childhood Onset		ISO	RGD:733735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9008778	Coronary Artery Calcification		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronary artery calcification	PMID:25741868
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141720	SLC20A2	solute carrier family 20 member 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:733735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:23334463|PMID:24463626|PMID:25741868|PMID:28492532
12141758	MALL	mal, T cell differentiation protein like	gene	DOID:5041	esophageal cancer		ISO	RGD:1342796	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:0070606	autosomal dominant nonsyndromic deafness 87		ISO	RGD:732673	D	RGD:7240710	20230505	OMIM			
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:0070606	autosomal dominant nonsyndromic deafness 87		ISO	RGD:732673	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 87 | ClinVar Annotator: match by term: PI4KB-related condition	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:732673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253445
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:1324	lung cancer		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:1909	melanoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:732673	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253445
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:3070	high grade glioma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:3275	thymoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:5041	esophageal cancer		ISO	RGD:732673	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141771	PI4KB	phosphatidylinositol 4-kinase beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:7240710	20190315	OMIM			
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:0110345	osteogenesis imperfecta type 16		ISO	RGD:1342471	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CREB3L1-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XVI | ClinVar Annotator: match by term: Osteogenesis imperfecta type 16 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xvi	PMID:24033266|PMID:25741868|PMID:28492532
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:3275	thymoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:3307	teratoma		ISO	RGD:1342471	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Teratoma	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:630	genetic disease		ISO	RGD:1342471	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141796	CREB3L1	cAMP responsive element binding protein 3 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342471	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:0051098	retinitis pigmentosa 107		ISO	RGD:1605686	D	RGD:7240710	20260701	OMIM			
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:0051098	retinitis pigmentosa 107		ISO	RGD:1605686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 107	
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:10534	stomach cancer		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:35246562
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:4362	cervical cancer		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1605686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12141812	CFAP20	cilia and flagella associated protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141822	DOK7	docking protein 7	gene	DOID:0050840	cervical dystonia		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:0060249	scoliosis		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:0060260	ptosis		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425|PMID:31618753
12141822	DOK7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1604958	D	RGD:7240710	20180130	OMIM			
12141822	DOK7	docking protein 7	gene	DOID:0110668	congenital myasthenic syndrome 10		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 10 | ClinVar Annotator: match by term: congenital myasthenic syndrome 10	PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:34027146|PMID:36099689|PMID:36579833|PMID:37646703|PMID:38374194|PMID:38907197|PMID:40330390|PMID:8907197|PMID:9536098
12141822	DOK7	docking protein 7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 11	PMID:16794080|PMID:16917026|PMID:18626973|PMID:19261599|PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:0111376	fetal akinesia deformation sequence syndrome 3		ISO	RGD:1604958	D	RGD:7240710	20190501	OMIM			
12141822	DOK7	docking protein 7	gene	DOID:0111376	fetal akinesia deformation sequence syndrome 3		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DOK7-related condition | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:34682862|PMID:36579833|PMID:37849383|PMID:40330390
12141822	DOK7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:9536098
12141822	DOK7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31618753|PMID:31880392|PMID:32331917|PMID:33146414|PMID:33756069|PMID:34027146|PMID:36099689|PMID:36579833|PMID:37273706|PMID:9536098
12141822	DOK7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:10222457|PMID:1483054|PMID:16199547|PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18567858|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20603078|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:22884442|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25625551|PMID:25741868|PMID:25849006|PMID:26436962|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28024842|PMID:28492532|PMID:28508085|PMID:28716243|PMID:29054425|PMID:29118959|PMID:29395675|PMID:30266093|PMID:31589614|PMID:31618753|PMID:31880392|PMID:32153140|PMID:32331917|PMID:32360404|PMID:33146414|PMID:33756069|PMID:33820833|PMID:34027146|PMID:34418069|PMID:34682862|PMID:36099689|PMID:36579833|PMID:37273706|PMID:37721175|PMID:37849383|PMID:38725677|PMID:9536098
12141822	DOK7	docking protein 7	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:17576681|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:37721175|PMID:38374194|PMID:38907197|PMID:40330390|PMID:8907197|PMID:9536098
12141822	DOK7	docking protein 7	gene	DOID:1059	intellectual disability		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:10907	microcephaly		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:10965	spastic diplegia		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:11830	myopia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:12215	oligohydramnios		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:1826	epilepsy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: epilepsy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:1909	melanoma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141822	DOK7	docking protein 7	gene	DOID:2841	asthma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:3086	gingival overgrowth		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingival overgrowth	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604958	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:21850686|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24033266|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25741868|PMID:25849006|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29118959|PMID:31880392
12141822	DOK7	docking protein 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome | ClinVar Annotator: match by term: Myasthenia, limb-girdle, familial	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18414213|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:21520333|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:24088041|PMID:25033858|PMID:25237101|PMID:25326635|PMID:25326637|PMID:25557462|PMID:25741868|PMID:26467025|PMID:26583494|PMID:26633545|PMID:27391121|PMID:28492532|PMID:28716243|PMID:29054425|PMID:29118959|PMID:30266093|PMID:31618753|PMID:33146414|PMID:33756069|PMID:38374194|PMID:38907197|PMID:8907197
12141822	DOK7	docking protein 7	gene	DOID:3883	Lynch syndrome		ISO	RGD:1604958	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:22661499|PMID:25326635|PMID:25741868|PMID:28492532|PMID:33146414
12141822	DOK7	docking protein 7	gene	DOID:423	myopathy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:480	movement disease		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141822	DOK7	docking protein 7	gene	DOID:630	genetic disease		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16794080|PMID:16917026|PMID:18626973|PMID:19261599|PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:630	genetic disease		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:870	neuropathy		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604958	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12141822	DOK7	docking protein 7	gene	DOID:9001350	Aicardi-Goutieres Syndrome 1		ISO	RGD:1604958	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1	PMID:25741868
12141822	DOK7	docking protein 7	gene	DOID:9001581	Constipation		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9002969	Nevus		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9004866	Ataxia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9007573	Flatfoot		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9007661	Dwarfism		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:987	alopecia		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Alopecia	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141822	DOK7	docking protein 7	gene	DOID:9970	obesity		ISO	RGD:1604958	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16794080|PMID:16917026|PMID:17439981|PMID:17452375|PMID:18161030|PMID:18165682|PMID:18626973|PMID:19261599|PMID:19837590|PMID:20012313|PMID:20458068|PMID:20554332|PMID:20562457|PMID:20610155|PMID:21041412|PMID:22230109|PMID:2261499|PMID:22661499|PMID:23219351|PMID:23657916|PMID:23790237|PMID:25033858|PMID:25237101|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26583494|PMID:27391121|PMID:28492532|PMID:29054425
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0060249	scoliosis		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0080471	developmental and epileptic encephalopathy 92		ISO	RGD:735355	D	RGD:7240710	20190315	OMIM			
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0080471	developmental and epileptic encephalopathy 92		ISO	RGD:735355	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 92 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 92 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 2 | ClinVar Annotator: match by term: Epileptic encephalopathy, infantile or early childhood, 2	PMID:25741868|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32686847|PMID:33325057|PMID:34489640|PMID:35605087
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10283	prostate cancer		ISO	RGD:735355	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383|PMID:25741868|PMID:28492532
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10376	amblyopia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10534	stomach cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31036916|PMID:31785789|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:33325057|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: intellectual disabilities	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30851244|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:33325057|PMID:35355020|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Dominant | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:12140781|PMID:17576681|PMID:23265383|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30851244|PMID:31036916|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:12140781|PMID:16199547|PMID:17576681|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30552426|PMID:30851244|PMID:31036916|PMID:31269553|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1059	intellectual disability		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:16199547|PMID:17576681|PMID:25124326|PMID:25741868|PMID:26350515|PMID:26467025|PMID:27622563|PMID:27789573|PMID:28492532|PMID:29100083|PMID:29758562|PMID:30033060|PMID:30552426|PMID:30851244|PMID:31036916|PMID:31269553|PMID:31785789|PMID:32533790|PMID:32686847|PMID:32725632|PMID:33325057|PMID:35355020|PMID:9536098
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:10907	microcephaly		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11111	hydronephrosis		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1115	sarcoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:11836	clubfoot		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:12849	autistic disorder		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1824	status epilepticus		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1826	epilepsy		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:25741868|PMID:27622563|PMID:28492532|PMID:29100083|PMID:30033060|PMID:31036916|PMID:31785789|PMID:32533790|PMID:33325057
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:1909	melanoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:2030	anxiety disorder		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:2234	focal epilepsy		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:3275	thymoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:4362	cervical cancer		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:480	movement disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:540	strabismus		ISO	RGD:735355	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:5419	schizophrenia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868|PMID:28492532|PMID:29100083|PMID:30033060
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:543	dystonia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:630	genetic disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:29100083|PMID:31785789|PMID:32725632
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9000343	Vision Disorders		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9004866	Ataxia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Truncal ataxia	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005077	Joint Instability		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005335	Cerebral Visual Impairment and Intellectual Disability		ISO	RGD:735355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral visual impairment and intellectual disability	PMID:26350515
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005367	Arachnodactyly		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9006230	Neurologic Gait Disorders		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unsteady gait	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay | ClinVar Annotator: match by term: developmental delay | ClinVar Annotator: match by term: global developmental delay	PMID:25741868|PMID:28492532|PMID:31036916|PMID:31785789
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9008268	Enuresis		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enuresis	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:936	brain disease		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9840	esotropia		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868
12141832	GABRB2	gamma-aminobutyric acid type A receptor subunit beta2	gene	DOID:9970	obesity		ISO	RGD:735355	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532|PMID:29100083|PMID:30033060
12141849	RNF40	ring finger protein 40	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141849	RNF40	ring finger protein 40	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141849	RNF40	ring finger protein 40	gene	DOID:10534	stomach cancer		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141849	RNF40	ring finger protein 40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141849	RNF40	ring finger protein 40	gene	DOID:12387	nephrogenic diabetes insipidus		ISO	RGD:628638	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:21734099|REF_RGD_ID:9587431
12141849	RNF40	ring finger protein 40	gene	DOID:3275	thymoma		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141849	RNF40	ring finger protein 40	gene	DOID:4362	cervical cancer		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141849	RNF40	ring finger protein 40	gene	DOID:5041	esophageal cancer		ISO	RGD:732458	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141849	RNF40	ring finger protein 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141849	RNF40	ring finger protein 40	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141849	RNF40	ring finger protein 40	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141849	RNF40	ring finger protein 40	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732458	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350736	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141873	ATXN7L2	ataxin 7 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141895	GPHN	gephyrin	gene	DOID:0050117	disease by infectious agent		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:0050741	alcohol dependence	sexual_dimorphism	ISO	RGD:69194	D	RGD:9068941	20250529	RGD		mRNA:decreased expression:nucleus accumbens (rat)	PMID:34965406|REF_RGD_ID:616363144
12141895	GPHN	gephyrin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141895	GPHN	gephyrin	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:69477	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12141895	GPHN	gephyrin	gene	DOID:0060695	hyperekplexia		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EXAGGERATED STARTLE REACTION | ClinVar Annotator: match by term: Hyperekplexia	PMID:12684523|PMID:25741868|PMID:28492532|PMID:29948376
12141895	GPHN	gephyrin	gene	DOID:0060696	hyperekplexia 1		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperekplexia 1	PMID:25741868|PMID:28492532|PMID:29948376
12141895	GPHN	gephyrin	gene	DOID:0111164	molybdenum cofactor deficiency type A		ISO	RGD:69477	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group A	PMID:25741868|PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:0111166	molybdenum cofactor deficiency type C		ISO	RGD:69477	D	RGD:7240710	20180130	OMIM			
12141895	GPHN	gephyrin	gene	DOID:0111166	molybdenum cofactor deficiency type C		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MOLYBDENUM COFACTOR DEFICIENCY, TYPE C | ClinVar Annotator: match by term: Molybdenum cofactor deficiency, complementation group C | ClinVar Annotator: match by term: Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	PMID:11095995|PMID:12754701|PMID:16199547|PMID:17576681|PMID:22040219|PMID:23184456|PMID:23393157|PMID:24561070|PMID:25640679|PMID:25741868|PMID:26613940|PMID:27652284|PMID:28492532|PMID:29948376|PMID:31780880|PMID:33532714|PMID:35982159|PMID:35982160|PMID:9536098
12141895	GPHN	gephyrin	gene	DOID:10283	prostate cancer		ISO	RGD:69477	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12141895	GPHN	gephyrin	gene	DOID:10534	stomach cancer		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12141895	GPHN	gephyrin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:69477	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:31054281|PMID:32014858
12141895	GPHN	gephyrin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:69477	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26306921|PMID:26667666|PMID:27032803|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30718709|PMID:30979730|PMID:31054281|PMID:32014858|PMID:34448047
12141895	GPHN	gephyrin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:69477	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32790509|PMID:34001834|PMID:34448047|PMID:36909829
12141895	GPHN	gephyrin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:69477	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829
12141895	GPHN	gephyrin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:69477	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15258582|PMID:15322982|PMID:16269441|PMID:17389517|PMID:17512964|PMID:17964524|PMID:18779497|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23591405|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25412400|PMID:25494902|PMID:25741868|PMID:26047050|PMID:26103963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26667666|PMID:27032803|PMID:27809489|PMID:28041643|PMID:28492532|PMID:28559085|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:32014858|PMID:32141364|PMID:32322264|PMID:32790509|PMID:34001834|PMID:34448047|PMID:35006499|PMID:36460718|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38184646
12141895	GPHN	gephyrin	gene	DOID:1115	sarcoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141895	GPHN	gephyrin	gene	DOID:11830	myopia		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:1324	lung cancer		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141895	GPHN	gephyrin	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stiff-person syndrome, congenital	PMID:25741868|PMID:28492532|PMID:29948376
12141895	GPHN	gephyrin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:69477	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:27032803|PMID:27208204|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30718709|PMID:30979730|PMID:31054281|PMID:31814694|PMID:32014858|PMID:32865313|PMID:9536098
12141895	GPHN	gephyrin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:69477	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35994252|PMID:36284670|PMID:36690427|PMID:36909829|PMID:9536098
12141895	GPHN	gephyrin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:69477	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25412400|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31456290|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:32014858|PMID:32037395|PMID:32141364|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33970760|PMID:34001834|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36690427|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
12141895	GPHN	gephyrin	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:69477	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis | ClinVar Annotator: match by term: Leber's amaurosis | ClinVar Annotator: match by term: Retinal blindness, congenital	PMID:15258582|PMID:15322982|PMID:16199547|PMID:16269441|PMID:17197551|PMID:17389517|PMID:17512964|PMID:17576681|PMID:17964524|PMID:19011012|PMID:19140180|PMID:19956407|PMID:20006610|PMID:20301475|PMID:20683928|PMID:20736127|PMID:21151602|PMID:21217109|PMID:22065924|PMID:22995991|PMID:23105016|PMID:23591405|PMID:23661369|PMID:23847139|PMID:23900199|PMID:24123792|PMID:24265693|PMID:24474277|PMID:24625443|PMID:24752437|PMID:25133751|PMID:25494902|PMID:25741868|PMID:25910913|PMID:26047050|PMID:26103963|PMID:26124963|PMID:26261414|PMID:26306921|PMID:26355662|PMID:26497376|PMID:26667666|PMID:26848971|PMID:26868535|PMID:26992781|PMID:27032803|PMID:27208204|PMID:27422788|PMID:27596865|PMID:27809489|PMID:28041643|PMID:28157192|PMID:28418496|PMID:28471114|PMID:28492532|PMID:28512305|PMID:28513254|PMID:28559085|PMID:29068479|PMID:29178642|PMID:29186038|PMID:30029497|PMID:30134391|PMID:30372751|PMID:30543658|PMID:30718709|PMID:30870047|PMID:30902645|PMID:30979730|PMID:31054281|PMID:31345219|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31801355|PMID:31814694|PMID:31816670|PMID:31964843|PMID:32014858|PMID:32036094|PMID:32037395|PMID:32141364|PMID:32531858|PMID:32790509|PMID:32865313|PMID:33090715|PMID:33576794|PMID:33608557|PMID:33970760|PMID:34001834|PMID:34315337|PMID:34448047|PMID:35006499|PMID:35119454|PMID:35672425|PMID:35775617|PMID:35994252|PMID:36011402|PMID:36284670|PMID:36460718|PMID:36690427|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37714431|PMID:38219857|PMID:9536098
12141895	GPHN	gephyrin	gene	DOID:1574	alcohol use disorder		ISO	RGD:69477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12141895	GPHN	gephyrin	gene	DOID:1612	breast cancer		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12141895	GPHN	gephyrin	gene	DOID:1826	epilepsy		ISO	RGD:69477	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
12141895	GPHN	gephyrin	gene	DOID:2030	anxiety disorder		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12141895	GPHN	gephyrin	gene	DOID:3275	thymoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12141895	GPHN	gephyrin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12141895	GPHN	gephyrin	gene	DOID:4362	cervical cancer		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141895	GPHN	gephyrin	gene	DOID:4448	macular degeneration		ISO	RGD:69477	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Macular degeneration | ClinVar Annotator: match by term: Macular dystrophy	PMID:16269441|PMID:17512964|PMID:19011012|PMID:21151602|PMID:22065924|PMID:23591405|PMID:25412400|PMID:25494902|PMID:25741868|PMID:28492532|PMID:30902645|PMID:30979730|PMID:32014858|PMID:32790509|PMID:34001834|PMID:35672425|PMID:35994252|PMID:36909829
12141895	GPHN	gephyrin	gene	DOID:480	movement disease		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12141895	GPHN	gephyrin	gene	DOID:5041	esophageal cancer		ISO	RGD:69477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141895	GPHN	gephyrin	gene	DOID:5419	schizophrenia		ISO	RGD:69477	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12141895	GPHN	gephyrin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12141895	GPHN	gephyrin	gene	DOID:630	genetic disease		ISO	RGD:69477	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12684523|PMID:25741868|PMID:28492532|PMID:33156547|PMID:35445667
12141895	GPHN	gephyrin	gene	DOID:630	genetic disease		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:655	inherited metabolic disorder		ISO	RGD:69477	D	RGD:9068941	20200609	RGD		molybdenum cofactor deficiency, complementation group B,OMIM: 252150	PMID:12754701|REF_RGD_ID:1558665
12141895	GPHN	gephyrin	gene	DOID:9001239	Delayed Puberty		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:9005077	Joint Instability		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:69477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22253714
12141895	GPHN	gephyrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11095995|PMID:16199547|PMID:23184456|PMID:23393157|PMID:28492532
12141895	GPHN	gephyrin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:0080941	acquired angioedema		ISO	RGD:734376	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Susceptibility to angioedema induced by ACE inhibitors	PMID:25741868
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:0080941	acquired angioedema	susceptibility	ISO	RGD:734376	D	RGD:7240710	20190502	OMIM			
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:1558	angioedema		ISO	RGD:734376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16175507
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:1909	melanoma		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734376	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734376	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12141959	XPNPEP2	X-prolyl aminopeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734376	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:735323	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Persistent hyperplastic primary vitreous	PMID:17893667|PMID:24120416|PMID:25741868|PMID:26694549|PMID:28492532|PMID:29770612
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:735323	D	RGD:7240710	20180130	OMIM			
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:735323	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CATARACT 15, MULTIPLE TYPES | ClinVar Annotator: match by term: Cataract 15 multiple types | ClinVar Annotator: match by term: MIP-related condition	PMID:16199547|PMID:16564824|PMID:17576681|PMID:17893667|PMID:18501347|PMID:20361015|PMID:21921980|PMID:24120416|PMID:24319327|PMID:24405844|PMID:25741868|PMID:25803033|PMID:26694549|PMID:27456987|PMID:28492532|PMID:29695758|PMID:29770612|PMID:30585525|PMID:38216115|PMID:9536098
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:10629	microphthalmia		ISO	RGD:735323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:1909	melanoma		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:5844	myocardial infarction		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocardial infarction	PMID:25741868
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:630	genetic disease		ISO	RGD:735323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:83	cataract		ISO	RGD:735323	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:10802646
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:83	cataract		ISO	RGD:735323	D	RGD:9068941	20260604	RGD			PMID:10802646|REF_RGD_ID:1599936
12141984	MIP	major intrinsic protein of lens fiber	gene	DOID:9650	pathologic nystagmus		ISO	RGD:735323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12141996	FAM171A1	family with sequence similarity 171 member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12141996	FAM171A1	family with sequence similarity 171 member A1	gene	DOID:4362	cervical cancer		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12141996	FAM171A1	family with sequence similarity 171 member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:1313160	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12141996	FAM171A1	family with sequence similarity 171 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142007	LORICRIN	loricrin cornified envelope precursor protein	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1347914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12142007	LORICRIN	loricrin cornified envelope precursor protein	gene	DOID:9001125	Vohwinkel Syndrome, Variant Form		ISO	RGD:1347914	D	RGD:7240710	20180130	OMIM			
12142007	LORICRIN	loricrin cornified envelope precursor protein	gene	DOID:9001125	Vohwinkel Syndrome, Variant Form		ISO	RGD:1347914	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Loricrin keratoderma | ClinVar Annotator: match by term: VOHWINKEL SYNDROME WITH ICHTHYOSIS | ClinVar Annotator: match by term: Vohwinkel syndrome with ichthyosis | ClinVar Annotator: match by term: loricrin keratoderma	PMID:11038186|PMID:11121146|PMID:22831754|PMID:25741868|PMID:25965869|PMID:28492532|PMID:31595526|PMID:32833329|PMID:8673107
12142007	LORICRIN	loricrin cornified envelope precursor protein	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1347914	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12142013	SNX22	sorting nexin 22	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:11558879|RGD:11635093|RGD:11635149|RGD:11635414|RGD:11635780|RGD:153346244	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	
12142013	SNX22	sorting nexin 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142013	SNX22	sorting nexin 22	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142013	SNX22	sorting nexin 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312835	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142028	H2BC14	H2B clustered histone 14	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1346575	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12142028	H2BC14	H2B clustered histone 14	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1346575	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:19208208
12142033	PRADC1	protease associated domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352558	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142033	PRADC1	protease associated domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142056	DEFB136	defensin beta 136	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:150333719	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
12142068	TMEM221	transmembrane protein 221	gene	DOID:4362	cervical cancer		ISO	RGD:2307389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142068	TMEM221	transmembrane protein 221	gene	DOID:5041	esophageal cancer		ISO	RGD:2307389	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142068	TMEM221	transmembrane protein 221	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2307389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142068	TMEM221	transmembrane protein 221	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2307389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142077	PRSS12	serine protease 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142077	PRSS12	serine protease 12	gene	DOID:0050587	trichotillomania		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trichotillomania	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:0081177	autosomal recessive intellectual developmental disorder 1		ISO	RGD:733403	D	RGD:7240710	20180130	OMIM			
12142077	PRSS12	serine protease 12	gene	DOID:0081177	autosomal recessive intellectual developmental disorder 1		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 1 | ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Mental retardation, autosomal recessive 1 | ClinVar Annotator: match by term: PRSS12-related condition	PMID:12459588|PMID:25741868|PMID:28492532
12142077	PRSS12	serine protease 12	gene	DOID:10534	stomach cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142077	PRSS12	serine protease 12	gene	DOID:1059	intellectual disability		ISO	RGD:733403	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142077	PRSS12	serine protease 12	gene	DOID:1115	sarcoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142077	PRSS12	serine protease 12	gene	DOID:1324	lung cancer		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142077	PRSS12	serine protease 12	gene	DOID:1909	melanoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142077	PRSS12	serine protease 12	gene	DOID:2468	psychotic disorder		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:2843	long QT syndrome		ISO	RGD:733403	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12142077	PRSS12	serine protease 12	gene	DOID:3070	high grade glioma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12142077	PRSS12	serine protease 12	gene	DOID:4189	mutism		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142077	PRSS12	serine protease 12	gene	DOID:9000727	Syncope		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25167861|PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9003816	Macrocephaly		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9007661	Dwarfism		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142077	PRSS12	serine protease 12	gene	DOID:936	brain disease		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12142077	PRSS12	serine protease 12	gene	DOID:9970	obesity		ISO	RGD:733403	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12142105	SHBG	sex hormone binding globulin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25996886
12142105	SHBG	sex hormone binding globulin	gene	DOID:1380	endometrial cancer		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:p.D327N (human)	PMID:17315164|REF_RGD_ID:1625245
12142105	SHBG	sex hormone binding globulin	gene	DOID:1574	alcohol use disorder		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8590623
12142105	SHBG	sex hormone binding globulin	gene	DOID:1790	malignant mesothelioma		ISO	RGD:736172	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
12142105	SHBG	sex hormone binding globulin	gene	DOID:1875	impotence		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17961146
12142105	SHBG	sex hormone binding globulin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12142105	SHBG	sex hormone binding globulin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736172	D	RGD:9068941	20200910	CTD		CTD Direct Evidence: marker/mechanism	PMID:17220347
12142105	SHBG	sex hormone binding globulin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968811|PMID:17992261
12142105	SHBG	sex hormone binding globulin	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17884445|REF_RGD_ID:2313785
12142105	SHBG	sex hormone binding globulin	gene	DOID:9351	diabetes mellitus		ISO	RGD:736172	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18346991|REF_RGD_ID:2313784
12142105	SHBG	sex hormone binding globulin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21982312
12142105	SHBG	sex hormone binding globulin	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736172	D	RGD:9068941	20200609	RGD		DNA, protein:SNPs, decreased expression:rs6257, rs6259, plasma (human)	PMID:19657112|REF_RGD_ID:2313782
12142166	C20H3orf49	chromosome 20 C3orf49 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142166	C20H3orf49	chromosome 20 C3orf49 homolog	gene	DOID:3275	thymoma		ISO	RGD:1602072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142166	C20H3orf49	chromosome 20 C3orf49 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1602072	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142166	C20H3orf49	chromosome 20 C3orf49 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142166	C20H3orf49	chromosome 20 C3orf49 homolog	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12142203	FHL5	four and a half LIM domains 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142203	FHL5	four and a half LIM domains 5	gene	DOID:6364	migraine		ISO	RGD:1316022	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23793025
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0060260	ptosis		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0070668	Snijders Blok-Campeau syndrome		ISO	RGD:1349317	D	RGD:7240710	20190329	OMIM			
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0070668	Snijders Blok-Campeau syndrome		ISO	RGD:1349317	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: CHD3-Related Disorder | ClinVar Annotator: match by term: CHD3-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: SNIJDERS BLOK-CAMPEAU SYNDROME | ClinVar Annotator: match by term: Snijders Blok-Campeau syndrome	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28135719|PMID:28191890|PMID:28492532|PMID:29463886|PMID:29758562|PMID:30192042|PMID:30397230|PMID:30564305|PMID:32483341|PMID:33057194|PMID:33358638|PMID:35346573|PMID:35468861|PMID:35982159|PMID:36114283|PMID:37761804|PMID:38958063
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1349317	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28135719|PMID:28492532|PMID:29463886|PMID:30397230|PMID:35346573
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1059	intellectual disability		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, borderline | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230|PMID:32483341|PMID:35346573|PMID:38958063
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:11830	myopia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:11836	clubfoot		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clubfoot	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:12849	autistic disorder		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1826	epilepsy		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:1909	melanoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1349317	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:3312	bipolar disorder		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:480	movement disease		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:4905	pancreatic carcinoma	disease_progression	ISO	RGD:1311923	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:21472101|REF_RGD_ID:9587766
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:540	strabismus		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:5419	schizophrenia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:543	dystonia		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:630	genetic disease		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15988005|PMID:25741868|PMID:28135719|PMID:28518168|PMID:29463886|PMID:30397230|PMID:32461654|PMID:32483341|PMID:38958063|PMID:8871545|PMID:9688266
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:8541	Sezary's disease		ISO	RGD:1349317	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26551667
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9000121	Malocclusion		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malocclusion	PMID:25741868
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9000495	Tremor		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349317	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: cognitive impairment	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28135719|PMID:29463886|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1349317	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349317	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1349317	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9007573	Flatfoot		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890|PMID:30397230
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:1349317	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9008675	Dyskinesias		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:22495309|PMID:25363768|PMID:25741868|PMID:28191890
12142219	CHD3	chromodomain helicase DNA binding protein 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1349317	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:30397230
12142304	WDR13	WD repeat domain 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:10485	esophageal atresia		ISO	RGD:1347566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12142304	WDR13	WD repeat domain 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142304	WDR13	WD repeat domain 13	gene	DOID:1909	melanoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:4362	cervical cancer		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142304	WDR13	WD repeat domain 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142304	WDR13	WD repeat domain 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:1909	melanoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:3275	thymoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:5041	esophageal cancer		ISO	RGD:1354444	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1354444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142325	CLEC4F	C-type lectin domain family 4 member F	gene	DOID:9256	colorectal cancer		ISO	RGD:1354444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1315225	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1315225	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142351	STARD10	StAR related lipid transfer domain containing 10	gene	DOID:9256	colorectal cancer		ISO	RGD:1315225	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1602723	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26935421
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:182	calcinosis		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:299	adenocarcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:4079	heart valve disease		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:4552	large cell carcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:557	kidney disease		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:22647887|PMID:24508291
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17471463
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9001542	Albuminuria		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22647887
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9004657	Weight Gain		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24508291
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9005020	Brain Contusion	treatment	ISO	RGD:628637	D	RGD:9068941	20241026	RGD			PMID:19401709|REF_RGD_ID:5491174
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778195
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17986858
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1602723	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22647887
12142365	PYCARD	PYD and CARD domain containing	gene	DOID:9452	steatotic liver disease	severity	ISO	RGD:1602723	D	RGD:9068941	20250102	RGD		mRNA:increases expression:liver (human)	PMID:32282939|REF_RGD_ID:596936226
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0014667	disease of metabolism		ISO	RGD:69474	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:10600799|REF_RGD_ID:1581420
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0014667	disease of metabolism	susceptibility	ISO	RGD:69473	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:18692268|REF_RGD_ID:2308809
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:69423	D	RGD:9068941	20250710	RGD			PMID:24814604|REF_RGD_ID:617183686
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23603006|PMID:24633463
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:69474	D	RGD:9068941	20231005	RGD		protein:increased expression:liver (mouse)	PMID:29173234|REF_RGD_ID:401827867
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:69423	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:69423	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:liver (rat) treatment with INT-767	PMID:30038487|REF_RGD_ID:15092090
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:69423	D	RGD:9068941	20230914	RGD			PMID:28458350|REF_RGD_ID:401799674
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:1168	familial hyperlipidemia	treatment	ISO	RGD:69474	D	RGD:9068941	20231019	RGD			PMID:29197188|REF_RGD_ID:401842366
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:69423	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:1324	lung cancer		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:69474	D	RGD:9068941	20231026	RGD			PMID:23650230|PMID:29593532|PMID:31601342|PMID:33011372|REF_RGD_ID:401827839|REF_RGD_ID:401842363|REF_RGD_ID:401842381|REF_RGD_ID:401850587
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:3275	thymoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:3393	coronary artery disease	disease_progression	ISO	RGD:69473	D	RGD:9068941	20231019	RGD		associated with type 2 diabetes mellitus; mRNA:increased expression:epicardial fat (human)	PMID:28367087|REF_RGD_ID:401842368
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:69473	D	RGD:9068941	20231019	RGD		mRNA:decreased expression:blood serum (human)	PMID:31610782|REF_RGD_ID:401842364
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:69473	D	RGD:9068941	20231005	RGD		DNA:SNP, haplotype:: -36delG (human)	PMID:12752570|REF_RGD_ID:401827912
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:69473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:557	kidney disease		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		protein:altered localization:kidney	PMID:15944339|REF_RGD_ID:1625196
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:69473	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32497488
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:783	end stage renal disease		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9000038	Urban Schosser Spohn Syndrome		ISO	RGD:69473	D	RGD:7240710	20201111	OMIM			
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9000038	Urban Schosser Spohn Syndrome		ISO	RGD:69473	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary mucoepithelial dysplasia	PMID:25741868
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9000469	Viral Myocarditis	severity	ISO	RGD:69474	D	RGD:9068941	20231026	RGD		mRNA:increased expression:heart (mouse)	PMID:25998987|REF_RGD_ID:401850594
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		protein:altered localization:liver	PMID:16741953|REF_RGD_ID:1581819
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;mRNA:increased expression:kidney	PMID:18613221|REF_RGD_ID:2308806
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69473	D	RGD:9068941	20200609	RGD			PMID:17961514|REF_RGD_ID:2308811
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69474	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17961514|REF_RGD_ID:2308811
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69474	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;mRNA:increased expression:kidney	PMID:16936198|REF_RGD_ID:2308815
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69474	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:kidney	PMID:16046298|REF_RGD_ID:1581418
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:69423	D	RGD:9068941	20200609	RGD			PMID:19017816|REF_RGD_ID:2308805
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9004587	Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2		ISO	RGD:69473	D	RGD:7240710	20200930	OMIM			
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9004587	Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2		ISO	RGD:69473	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IFAP SYNDROME 2 | ClinVar Annotator: match by term: SREBF1-related disorder	PMID:25741868|PMID:28492532|PMID:31790666|PMID:32497488|PMID:32902915|PMID:33253727|PMID:39005171
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:renal proximal tubule, epithelial cell	PMID:19048273|REF_RGD_ID:2308804
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10900012|PMID:23090186
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:69423	D	RGD:9068941	20231026	RGD			PMID:32535406|REF_RGD_ID:401850547
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:69423	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69423	D	RGD:9068941	20231005	RGD		mRNA:increased expression:liver (rat)	PMID:11934685|REF_RGD_ID:628329
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:69474	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9006646	Metabolic Syndrome	disease_progression	ISO	RGD:69474	D	RGD:9068941	20231005	RGD		protein:increased expression:liver (mouse)	PMID:29173234|REF_RGD_ID:401827867
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		associated with Fatty Liver;mRNA:increased expression:liver	PMID:17241878|REF_RGD_ID:2308807
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22658938
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9007692	Insulin Resistance	susceptibility	ISO	RGD:69473	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:SNP	PMID:18692268|REF_RGD_ID:2308809
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:69423	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:19357831|REF_RGD_ID:2308802
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69423	D	RGD:9068941	20250820	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	PMID:16772326|REF_RGD_ID:1599258
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69473	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:18692268|REF_RGD_ID:2308809
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:69473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24469900
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:69474	D	RGD:9068941	20231019	RGD			PMID:27813192|REF_RGD_ID:401842386
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9455	lipid storage disease		ISO	RGD:69423	D	RGD:9068941	20200609	RGD			PMID:17524234|REF_RGD_ID:2308821
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9743	diabetic neuropathy		ISO	RGD:69423	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:19423844|REF_RGD_ID:2308808
12142397	SREBF1	sterol regulatory element binding transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:69473	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:0050758	metabolic acidosis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	
12142427	UMOD	uromodulin	gene	DOID:0050855	renal fibrosis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal fibrosis	
12142427	UMOD	uromodulin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142427	UMOD	uromodulin	gene	DOID:0060062	autosomal dominant tubulointerstitial kidney disease		ISO	RGD:11477	D	RGD:9068941	20240912	MouseDO		OMIM:162000 | OMIM:613092 | OMIM:614227	
12142427	UMOD	uromodulin	gene	DOID:0061118	autosomal dominant tubulointerstitial kidney disease 2		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia	PMID:20172860|PMID:21060763|PMID:21868615|PMID:22117067|PMID:23748428|PMID:25741868|PMID:28492532|PMID:28509303|PMID:28781372|PMID:29204651|PMID:30473401|PMID:30773290|PMID:31068150|PMID:31509055|PMID:31822006|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071
12142427	UMOD	uromodulin	gene	DOID:0061122	autosomal dominant tubulointerstitial kidney disease 1		ISO	RGD:737075	D	RGD:7240710	20180130	OMIM			
12142427	UMOD	uromodulin	gene	DOID:0061122	autosomal dominant tubulointerstitial kidney disease 1		ISO	RGD:737075	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial juvenile hyperuricemic nephropathy 1 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease	PMID:12471200|PMID:14531790|PMID:14569098|PMID:15086896|PMID:16883323|PMID:17010121|PMID:17245395|PMID:17576681|PMID:21868615|PMID:22117067|PMID:23988501|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28781372|PMID:28990932|PMID:29212948|PMID:30586318|PMID:32274456|PMID:32450155|PMID:32926855|PMID:32954071|PMID:33574344|PMID:35368791|PMID:35947615|PMID:37900933|PMID:40794449|PMID:9536098
12142427	UMOD	uromodulin	gene	DOID:0080204	renal hypoplasia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	
12142427	UMOD	uromodulin	gene	DOID:1074	kidney failure		ISO	RGD:737075	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	PMID:22237754|PMID:25741868|PMID:28492532|PMID:33616882|PMID:35643372
12142427	UMOD	uromodulin	gene	DOID:10763	hypertension		ISO	RGD:737075	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22228705
12142427	UMOD	uromodulin	gene	DOID:10825	essential hypertension		ISO	RGD:737075	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Essential hypertension	
12142427	UMOD	uromodulin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:13189	gout		ISO	RGD:737075	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gout	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:13250	diarrhea		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:1389	polyneuropathy		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	
12142427	UMOD	uromodulin	gene	DOID:1920	hyperuricemia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	PMID:12414825|PMID:14718385|PMID:25741868|PMID:28216380|PMID:28492532|PMID:29784615|PMID:32257384|PMID:33022251
12142427	UMOD	uromodulin	gene	DOID:1969	cerebral palsy		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:2355	anemia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:2975	cystic kidney disease		ISO	RGD:737075	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cystic renal disease | ClinVar Annotator: match by term: Renal cyst	PMID:21868615|PMID:22117067|PMID:22237754|PMID:25741868|PMID:28492532|PMID:33616882|PMID:34519781|PMID:35643372
12142427	UMOD	uromodulin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12142427	UMOD	uromodulin	gene	DOID:557	kidney disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia | ClinVar Annotator: match by term: renal disease	PMID:25741868|PMID:26467025|PMID:28492532
12142427	UMOD	uromodulin	gene	DOID:576	proteinuria		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:12414825|PMID:14718385|PMID:21868615|PMID:22117067|PMID:25741868|PMID:28216380|PMID:28492532|PMID:28990932|PMID:29784615|PMID:30586318|PMID:32257384|PMID:33022251|PMID:33574344
12142427	UMOD	uromodulin	gene	DOID:630	genetic disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16883323|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30376835|PMID:32954071|PMID:35368791
12142427	UMOD	uromodulin	gene	DOID:783	end stage renal disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stage 5 chronic kidney disease	PMID:12414825|PMID:14718385|PMID:22237754|PMID:25741868|PMID:28216380|PMID:28492532|PMID:29784615|PMID:32257384|PMID:33022251|PMID:33616882|PMID:35643372
12142427	UMOD	uromodulin	gene	DOID:784	chronic kidney disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:12414825|PMID:14718385|PMID:21868615|PMID:22117067|PMID:22237754|PMID:25741868|PMID:28216380|PMID:28492532|PMID:28990932|PMID:29784615|PMID:30586318|PMID:32257384|PMID:33022251|PMID:33574344|PMID:33616882|PMID:35643372
12142427	UMOD	uromodulin	gene	DOID:848	arthritis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	
12142427	UMOD	uromodulin	gene	DOID:870	neuropathy		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
12142427	UMOD	uromodulin	gene	DOID:9000363	Hematuria		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:9000445	Azotemia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Azotemia	PMID:21868615|PMID:22117067|PMID:25741868|PMID:28492532|PMID:28990932|PMID:30586318|PMID:33574344
12142427	UMOD	uromodulin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	
12142427	UMOD	uromodulin	gene	DOID:9000972	Fever		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:9001542	Albuminuria		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Albuminuria	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal interstitial fibrosis	
12142427	UMOD	uromodulin	gene	DOID:9004866	Ataxia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Truncal ataxia	PMID:12414825|PMID:14718385|PMID:25741868|PMID:28216380|PMID:28492532|PMID:29784615|PMID:32257384|PMID:33022251
12142427	UMOD	uromodulin	gene	DOID:9005369	Hepatomegaly		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3940	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:10925066|REF_RGD_ID:2324705
12142427	UMOD	uromodulin	gene	DOID:9006065	Arthralgia		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
12142427	UMOD	uromodulin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142427	UMOD	uromodulin	gene	DOID:9008897	Diffuse Mesangial Sclerosis		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse mesangial sclerosis	
12142427	UMOD	uromodulin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142427	UMOD	uromodulin	gene	DOID:9452	steatotic liver disease		ISO	RGD:737075	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:25741868
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736545	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:10534	stomach cancer		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:10763	hypertension		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20123609
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:10763	hypertension	no_association	ISO	RGD:736545	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:11335187|REF_RGD_ID:1601156
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:10923	sickle cell anemia		ISO	RGD:736545	D	RGD:9068941	20200609	RGD		protein:increased activity:erythrocyte	PMID:900140|REF_RGD_ID:12904674
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:1115	sarcoma		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:11832	visual epilepsy		ISO	RGD:736545	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:19798568
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:1459	hypothyroidism		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood (rat)	PMID:17720948|REF_RGD_ID:4144163
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:1824	status epilepticus		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:hippocampus, frontal cortex (rat)	PMID:20026167|REF_RGD_ID:4144137
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:2352	hemochromatosis	treatment	ISO	RGD:2083	D	RGD:9068941	20200609	RGD			PMID:3679087|REF_RGD_ID:12904688
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:2355	anemia		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		associated with Trypanosomiasis;protein:increased activity:erythrocyte	PMID:21854703|REF_RGD_ID:12904694
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:3021	acute kidney failure		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:kidney (rat)	PMID:19484701|REF_RGD_ID:4144146
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:736545	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood, erythrocyte	PMID:8100994|REF_RGD_ID:12904682
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:3132	porphyria cutanea tarda	treatment	ISO	RGD:736545	D	RGD:9068941	20200609	RGD			PMID:526041|REF_RGD_ID:12904671
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:3565	meningioma		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16140629
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:409	liver disease		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24631795
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21799727
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:5082	liver cirrhosis		ISO	RGD:10133	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (human)	PMID:6848403|REF_RGD_ID:15042852
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:5082	liver cirrhosis		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (human)	PMID:6848403|REF_RGD_ID:15042852
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:5082	liver cirrhosis		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:5082	liver cirrhosis		ISO	RGD:736545	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (human)	PMID:6848403|REF_RGD_ID:15042852
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:557	kidney disease		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23792432|PMID:24631795
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:630	genetic disease		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:74	hematopoietic system disease		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24631795
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:8955	sideroblastic anemia		ISO	RGD:10133	D	RGD:9068941	20200609	RGD		protein:decreased activity:kidney, liver, spleen	PMID:5891055|REF_RGD_ID:12904678
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:striatum (rat)	PMID:18778733|REF_RGD_ID:4144152
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20123609
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24500903
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:6721832|REF_RGD_ID:4144806
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005584	Hepatic Porphyrias		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1905639|PMID:3684400
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:10133	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood, liver	PMID:7728901|REF_RGD_ID:12904683
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, kidney (rat)	PMID:19043199|REF_RGD_ID:4144150
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus	susceptibility	ISO	RGD:10133	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, erythrocyte (rat)	PMID:10224671|REF_RGD_ID:15039405
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus	susceptibility	ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, erythrocyte (rat)	PMID:10224671|REF_RGD_ID:15039405
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus	susceptibility	ISO	RGD:736545	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, erythrocyte (rat)	PMID:10224671|REF_RGD_ID:15039405
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2083	D	RGD:9068941	20200609	RGD			PMID:18668330|PMID:21864646|PMID:24947461|REF_RGD_ID:12904692|REF_RGD_ID:12904702|REF_RGD_ID:12904704
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9006617	Fatigue		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:17204241|REF_RGD_ID:1599013
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9006693	ALAD-Deficiency Porphyria		ISO	RGD:736545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALAD-related condition | ClinVar Annotator: match by term: PORPHYRIA, ACUTE HEPATIC | ClinVar Annotator: match by term: PORPHYRIA, ACUTE HEPATIC, DIGENIC | ClinVar Annotator: match by term: Porphobilinogen synthase deficiency	PMID:10519994|PMID:11071662|PMID:11342419|PMID:16398658|PMID:17236137|PMID:17576681|PMID:19015748|PMID:2063868|PMID:25741868|PMID:28492532|PMID:33199206|PMID:9536098
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9006693	ALAD-Deficiency Porphyria	susceptibility	ISO	RGD:736545	D	RGD:7240710	20260805	OMIM			
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2083	D	RGD:9068941	20241107	RGD		protein:decreased activity:brain, liver	PMID:17320826|REF_RGD_ID:4144168
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9007159	Nervous System Lead Poisoning		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21439310
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood (rat)	PMID:19022878|REF_RGD_ID:4144202
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9008914	Lead Poisoning		ISO	RGD:2083	D	RGD:9068941	20200609	RGD			PMID:16597373|REF_RGD_ID:1599014
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9008914	Lead Poisoning		ISO	RGD:2083	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood (rat)	PMID:19647414|REF_RGD_ID:4144142
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9008914	Lead Poisoning		ISO	RGD:736545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21396434|PMID:23792432|PMID:24631795
12142442	ALAD	aminolevulinate dehydratase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142458	MPEG1	macrophage expressed 1	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:736355	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
12142458	MPEG1	macrophage expressed 1	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:736355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
12142458	MPEG1	macrophage expressed 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:736355	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polycystic ovaries	PMID:25741868
12142458	MPEG1	macrophage expressed 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736355	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12142458	MPEG1	macrophage expressed 1	gene	DOID:9001958	Immunodeficiency 77		ISO	RGD:736355	D	RGD:7240710	20210324	OMIM			
12142458	MPEG1	macrophage expressed 1	gene	DOID:9001958	Immunodeficiency 77		ISO	RGD:736355	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 77 | ClinVar Annotator: match by term: Immunodeficiency 77 | ClinVar Annotator: match by term: MPEG1-related condition	PMID:25741868|PMID:28422754|PMID:33224153
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:0070457	hereditary spastic paraplegia 88		ISO	RGD:1322742	D	RGD:7240710	20221123	OMIM			
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:0070457	hereditary spastic paraplegia 88		ISO	RGD:1322742	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 88, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 88, autosomal dominant	PMID:25741868|PMID:34564892
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:1909	melanoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322742	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:630	genetic disease		ISO	RGD:1322742	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142463	KPNA3	karyopherin subunit alpha 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0050453	lissencephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lissencephaly | ClinVar Annotator: match by term: Pachygyria	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0060058	lymphoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:7240710	20180130	OMIM			
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ASPM-related condition | ClinVar Annotator: match by term: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 5, primary, autosomal recessive | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly 5	PMID:11067780|PMID:12355089|PMID:14574646|PMID:15355437|PMID:16199547|PMID:16673149|PMID:17576681|PMID:17849285|PMID:18414213|PMID:18452193|PMID:19028728|PMID:19332161|PMID:19353628|PMID:19770472|PMID:19808985|PMID:20301772|PMID:20679666|PMID:20978018|PMID:22823409|PMID:22989186|PMID:23611254|PMID:25741868|PMID:25786579|PMID:26467025|PMID:26539891|PMID:26548919|PMID:26663670|PMID:26691732|PMID:26846091|PMID:27250695|PMID:28004384|PMID:28252636|PMID:28492532|PMID:28554332|PMID:29243349|PMID:29644084|PMID:29706646|PMID:30842647|PMID:31696992|PMID:31853109|PMID:31934343|PMID:31980526|PMID:32677750|PMID:33255631|PMID:33914258|PMID:34402213|PMID:36553628|PMID:9536098
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5	susceptibility	ISO	RGD:1316111	D	RGD:9068941	20241114	RGD			PMID:16141009|REF_RGD_ID:1599300
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070280	primary autosomal recessive microcephaly 5	treatment	ISO	RGD:1316111	D	RGD:9068941	20241114	RGD			PMID:20823249|REF_RGD_ID:13439744
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070296	autosomal recessive primary microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive primary microcephaly | ClinVar Annotator: match by term: Primary Autosomal Recessive Microcephaly | ClinVar Annotator: match by term: Primary autosomal recessive microcephaly	PMID:16199547|PMID:18414213|PMID:19028728|PMID:20301772|PMID:20679666|PMID:22823409|PMID:22989186|PMID:23611254|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29243349|PMID:30842647|PMID:31980526
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0070545	developmental and epileptic encephalopathy 116		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 116	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1316111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0080600	COVID-19		ISO	RGD:1316111	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1316111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:31680123
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:10534	stomach cancer		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:20301772|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:10534	stomach cancer		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability	PMID:12355089|PMID:18414213|PMID:19770472|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30167849
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, severe | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12355089|PMID:14574646|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31934343|PMID:32404165|PMID:32677750
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31934343
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1059	intellectual disability		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual Disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532|PMID:31934343
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:10907	microcephaly		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital microcephaly | ClinVar Annotator: match by term: Microcephaly	PMID:12355089|PMID:18414213|PMID:19028728|PMID:19770472|PMID:20301772|PMID:20679666|PMID:22823409|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532|PMID:30842647|PMID:32677750
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1115	sarcoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1316111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1324	lung cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1909	melanoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:1969	cerebral palsy		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1316111	D	RGD:9068941	20200609	RGD		protein:altered expression:ovary, cytoplasm	PMID:24830737|REF_RGD_ID:13204746
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:2234	focal epilepsy		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:2394	ovarian cancer		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:3068	glioblastoma		ISO	RGD:1316111	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:18636190|REF_RGD_ID:13439742
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1316111	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain:	PMID:20142996|REF_RGD_ID:13442488
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:4667	kyphosis		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Kyphosis	PMID:25741868
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:5041	esophageal cancer		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:540	strabismus		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:630	genetic disease		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:19028728|PMID:20301772|PMID:23611254|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32677750
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1316111	D	RGD:9068941	20200609	RGD			PMID:18676753|REF_RGD_ID:13439743
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19028728|PMID:23611254|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9001510	Funnel Chest		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9002079	Paresis		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9002189	High Myopia		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intrauterine growth retardation	PMID:14574646|PMID:20301772
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1316111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Insomnia	PMID:25741868
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9005501	Abnormal Cortical Gyration		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal cortical gyration	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:19028728|PMID:23611254|PMID:25741868|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1316111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:25741868
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9007661	Dwarfism		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:19028728|PMID:23611254|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:28492532
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142484	ASPM	assembly factor for spindle microtubules	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1316111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Systemic lupus erythematosus	PMID:19028728|PMID:22989186|PMID:23611254|PMID:25741868|PMID:28492532
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142521	CASC3	CASC3 exon junction complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050117	disease by infectious agent		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050567	orofacial cleft		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :rs7078 (human)	PMID:19320731|REF_RGD_ID:12798512
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050567	orofacial cleft		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:18716610|REF_RGD_ID:12798509
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050567	orofacial cleft		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)	PMID:19891592|REF_RGD_ID:12798511
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050567	orofacial cleft		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs3752462, rs2009930 (human)	PMID:17337617|REF_RGD_ID:12798514
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050758	metabolic acidosis		ISO	RGD:3140	D	RGD:9068941	20200609	RGD		protein:increased expression:brush border membrane	PMID:22357915|REF_RGD_ID:7243154
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050938	breast lobular carcinoma		ISO	RGD:732401	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12142539	MYH9	myosin heavy chain 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:0060604	ankyloglossia		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ankyloglossia	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:0060651	MYH-9 related disease		IAGP		D	RGD:12801476	20210603	OMIA		May-Hegglin anomaly	PMID:21554370
12142539	MYH9	myosin heavy chain 9	gene	DOID:0060651	MYH-9 related disease		ISO	RGD:732401	D	RGD:7240710	20180130	OMIM			
12142539	MYH9	myosin heavy chain 9	gene	DOID:0060651	MYH-9 related disease		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epstein syndrome | ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS | ClinVar Annotator: match by term: MYH9-related disorder | ClinVar Annotator: match by term: Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | ClinVar Annotator: match by term: May-Hegglin anomaly | ClinVar Annotator: match by term: Sebastian platelet syndrome	PMID:10973259|PMID:10973260|PMID:11023810|PMID:11159552|PMID:11590545|PMID:11752022|PMID:11776386|PMID:12237319|PMID:12533692|PMID:12792306|PMID:16098078|PMID:16969870|PMID:16978745|PMID:17146397|PMID:17576681|PMID:18059020|PMID:18330899|PMID:18676005|PMID:19450438|PMID:19557653|PMID:19967157|PMID:20002731|PMID:20301740|PMID:20416459|PMID:20588287|PMID:22123909|PMID:22477015|PMID:23123319|PMID:23144074|PMID:23207509|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24123792|PMID:24186861|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25703294|PMID:25741868|PMID:25949529|PMID:26226608|PMID:26346198|PMID:26382273|PMID:26467025|PMID:26554828|PMID:26969326|PMID:27068579|PMID:28000701|PMID:28492532|PMID:28748566|PMID:28780565|PMID:28983057|PMID:29090586|PMID:29532554|PMID:29679756|PMID:29782633|PMID:29907799|PMID:30245029|PMID:30311386|PMID:30471777|PMID:30556268|PMID:30586318|PMID:30712057|PMID:30720677|PMID:31064749|PMID:31308072|PMID:31555371|PMID:31562665|PMID:31888422|PMID:31937884|PMID:31977897|PMID:32545517|PMID:32581362|PMID:32604935|PMID:32746448|PMID:32757236|PMID:33004838|PMID:33217855|PMID:33532864|PMID:33710140|PMID:33718801|PMID:33724713|PMID:34355501|PMID:36100708|PMID:36646731|PMID:36938085|PMID:38025266|PMID:38042490|PMID:41398921|PMID:41751538|PMID:9536098
12142539	MYH9	myosin heavy chain 9	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:732401	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:0110032	Alport syndrome 3A		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:4270G>C,D1424H (human)	PMID:12500226|REF_RGD_ID:6902925
12142539	MYH9	myosin heavy chain 9	gene	DOID:0110548	autosomal dominant nonsyndromic deafness 17		ISO	RGD:732401	D	RGD:7240710	20180130	OMIM			
12142539	MYH9	myosin heavy chain 9	gene	DOID:0110548	autosomal dominant nonsyndromic deafness 17		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic deafness 17 | ClinVar Annotator: match by term: Deafness, autosomal dominant 17 | ClinVar Annotator: match by term: MYH9-related condition	PMID:10973259|PMID:11590545|PMID:11752022|PMID:12533692|PMID:16969870|PMID:17576681|PMID:18059020|PMID:19557653|PMID:20002731|PMID:20588287|PMID:22123909|PMID:22477015|PMID:23144074|PMID:23409987|PMID:23804846|PMID:24033266|PMID:24186861|PMID:24643058|PMID:25077172|PMID:25741868|PMID:25949529|PMID:26226608|PMID:26346198|PMID:26467025|PMID:26554828|PMID:26969326|PMID:27068579|PMID:28492532|PMID:28748566|PMID:28780565|PMID:29532554|PMID:29679756|PMID:29782633|PMID:29907799|PMID:30245029|PMID:30311386|PMID:30471777|PMID:30720677|PMID:31064749|PMID:31555371|PMID:32604935|PMID:32757236|PMID:33004838|PMID:33532864|PMID:34619682|PMID:36100708|PMID:38025266|PMID:9536098
12142539	MYH9	myosin heavy chain 9	gene	DOID:0110754	type 1 diabetes mellitus 17		ISO	RGD:732401	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 17	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732401	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:10003	sensorineural hearing loss	disease_progression	ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with MYH9-Related Disorders;DNA:mutations:cds:	PMID:26226608|REF_RGD_ID:11533922
12142539	MYH9	myosin heavy chain 9	gene	DOID:10456	tonsillitis		ISO	RGD:732401	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tonsillitis	PMID:10973259|PMID:11590545|PMID:11935325|PMID:21908426|PMID:24186861|PMID:25741868|PMID:26387855|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:10534	stomach cancer		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142539	MYH9	myosin heavy chain 9	gene	DOID:1059	intellectual disability		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:1073	renal hypertension		ISO	RGD:732401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794856
12142539	MYH9	myosin heavy chain 9	gene	DOID:10983	Alport syndrome		ISO	RGD:732401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10973259
12142539	MYH9	myosin heavy chain 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142539	MYH9	myosin heavy chain 9	gene	DOID:1115	sarcoma		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142539	MYH9	myosin heavy chain 9	gene	DOID:1184	nephrotic syndrome		ISO	RGD:732401	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:1283	enterocele		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	
12142539	MYH9	myosin heavy chain 9	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:19557653|PMID:23144074|PMID:24033266|PMID:25741868|PMID:26346198|PMID:26467025|PMID:26969326|PMID:27068579|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:1324	lung cancer		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:1588	thrombocytopenia		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia | ClinVar Annotator: match by term: thrombocytopenia	PMID:25741868|PMID:31064749
12142539	MYH9	myosin heavy chain 9	gene	DOID:1826	epilepsy		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:1909	melanoma		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
12142539	MYH9	myosin heavy chain 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12142539	MYH9	myosin heavy chain 9	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732401	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12142539	MYH9	myosin heavy chain 9	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: immunoglobulin A nephropathy	
12142539	MYH9	myosin heavy chain 9	gene	DOID:3275	thymoma		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142539	MYH9	myosin heavy chain 9	gene	DOID:3627	aortic aneurysm		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm	
12142539	MYH9	myosin heavy chain 9	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12142539	MYH9	myosin heavy chain 9	gene	DOID:4362	cervical cancer		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142539	MYH9	myosin heavy chain 9	gene	DOID:480	movement disease		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12142539	MYH9	myosin heavy chain 9	gene	DOID:5041	esophageal cancer		ISO	RGD:732401	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:732402	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:22313957|REF_RGD_ID:6903274
12142539	MYH9	myosin heavy chain 9	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12142539	MYH9	myosin heavy chain 9	gene	DOID:557	kidney disease		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:576	proteinuria		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:576	proteinuria	disease_progression	ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with Epstein syndrome, Fechtner syndrome;DNA:missense mutation:exon:p.R702H, R702C(human)	PMID:20200500|REF_RGD_ID:6903242
12142539	MYH9	myosin heavy chain 9	gene	DOID:630	genetic disease		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30556268|PMID:30712057|PMID:36646731
12142539	MYH9	myosin heavy chain 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794854|PMID:18794856
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:20144966|REF_RGD_ID:6903243
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus, type 2;DNA:SNPs: :	PMID:21968013|REF_RGD_ID:6903256
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with diabetes mellitus,type 2;DNA:SNPs: :	PMID:19567477|REF_RGD_ID:6903238
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with hypertension, glomerulosclerosis, focal segmental;DNA:SNPs: :rs4821480, rs2032487, rs4821481(human)	PMID:18794854|REF_RGD_ID:6903237
12142539	MYH9	myosin heavy chain 9	gene	DOID:783	end stage renal disease		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:polymorphisms:multiple:	PMID:19177153|REF_RGD_ID:6903239
12142539	MYH9	myosin heavy chain 9	gene	DOID:784	chronic kidney disease	no_association	ISO	RGD:732401	D	RGD:9068941	20200609	RGD			PMID:22956460|REF_RGD_ID:12798515
12142539	MYH9	myosin heavy chain 9	gene	DOID:83	cataract		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:11023810|PMID:17146397|PMID:18330899|PMID:20301740|PMID:20416459|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25741868|PMID:28492532|PMID:30311386|PMID:32545517|PMID:41398921|PMID:41751538
12142539	MYH9	myosin heavy chain 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12142539	MYH9	myosin heavy chain 9	gene	DOID:9001542	Albuminuria		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		associated with hypertension;DNA:SNPs: :	PMID:19153477|REF_RGD_ID:6903241
12142539	MYH9	myosin heavy chain 9	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12142539	MYH9	myosin heavy chain 9	gene	DOID:9003507	Premature Birth		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:9004538	Hearing Loss		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:18059020|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30311386|PMID:38025266
12142539	MYH9	myosin heavy chain 9	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12142539	MYH9	myosin heavy chain 9	gene	DOID:9005077	Joint Instability		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12142539	MYH9	myosin heavy chain 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:9005875	Giant Platelet Syndrome with Thrombocytopenia		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Giant platelet syndrome with thrombocytopenia	PMID:11023810|PMID:11590545|PMID:11776386|PMID:17146397|PMID:18330899|PMID:20301740|PMID:20416459|PMID:20588287|PMID:23804846|PMID:24033266|PMID:24643058|PMID:24890873|PMID:25077172|PMID:25505834|PMID:25703294|PMID:25741868|PMID:25949529|PMID:26382273|PMID:26467025|PMID:28492532|PMID:28983057|PMID:29090586|PMID:29907799|PMID:30245029|PMID:30311386|PMID:30556268|PMID:30586318|PMID:30712057|PMID:31064749|PMID:31308072|PMID:31562665|PMID:31888422|PMID:32545517|PMID:32581362|PMID:32757236|PMID:33004838|PMID:33718801|PMID:34355501|PMID:36100708|PMID:36646731|PMID:36938085|PMID:41398921|PMID:41751538
12142539	MYH9	myosin heavy chain 9	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:3140	D	RGD:9068941	20200609	RGD		protein:increased expression:carotid artery:	PMID:11003588|REF_RGD_ID:11533926
12142539	MYH9	myosin heavy chain 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142539	MYH9	myosin heavy chain 9	gene	DOID:9007661	Dwarfism		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:732401	D	RGD:9068941	20260604	RGD		DNA:mutation:cds:p.R705H(human)	PMID:11023810|REF_RGD_ID:11533925
12142539	MYH9	myosin heavy chain 9	gene	DOID:9008660	Infantile Capillary Hemangioma		ISO	RGD:732401	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Capillary infantile hemangioma	PMID:28492532
12142539	MYH9	myosin heavy chain 9	gene	DOID:9008681	Deafness		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:10973259|PMID:11752022|PMID:12237319|PMID:12533692|PMID:16969870|PMID:18059020|PMID:22123909|PMID:23409987|PMID:24186861|PMID:25741868|PMID:26226608|PMID:26969326|PMID:28492532|PMID:29532554|PMID:29782633|PMID:30471777|PMID:32604935|PMID:33532864
12142539	MYH9	myosin heavy chain 9	gene	DOID:9008782	AIDS-Associated Nephropathy		ISO	RGD:732401	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:22313957|REF_RGD_ID:6903274
12142539	MYH9	myosin heavy chain 9	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732401	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28650484
12142539	MYH9	myosin heavy chain 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732401	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12142539	MYH9	myosin heavy chain 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732401	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1115	sarcoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1324	lung cancer		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:1909	melanoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:3070	high grade glioma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142583	RGL2	ral guanine nucleotide dissociation stimulator like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142607	TMEM144	transmembrane protein 144	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142607	TMEM144	transmembrane protein 144	gene	DOID:10534	stomach cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142607	TMEM144	transmembrane protein 144	gene	DOID:1909	melanoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142607	TMEM144	transmembrane protein 144	gene	DOID:4362	cervical cancer		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142607	TMEM144	transmembrane protein 144	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142607	TMEM144	transmembrane protein 144	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142607	TMEM144	transmembrane protein 144	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142607	TMEM144	transmembrane protein 144	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142640	SLC35F6	solute carrier family 35 member F6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142640	SLC35F6	solute carrier family 35 member F6	gene	DOID:1324	lung cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142640	SLC35F6	solute carrier family 35 member F6	gene	DOID:4362	cervical cancer		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142640	SLC35F6	solute carrier family 35 member F6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142640	SLC35F6	solute carrier family 35 member F6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142650	FNDC4	fibronectin type III domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142650	FNDC4	fibronectin type III domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1345842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142650	FNDC4	fibronectin type III domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142650	FNDC4	fibronectin type III domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142650	FNDC4	fibronectin type III domain containing 4	gene	DOID:9455	lipid storage disease		ISO	RGD:1345842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15342952|PMID:16919414|PMID:17175557
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:0060058	lymphoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1313708	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1313708	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9000918	Disease Progression		ISO	RGD:1313708	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:34427968
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313708	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151356
12142665	FGD5	FYVE, RhoGEF and PH domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313708	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:10534	stomach cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:1324	lung cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:1909	melanoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:4362	cervical cancer		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142694	TBC1D10A	TBC1 domain family member 10A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605322	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:1324	lung cancer		ISO	RGD:735659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:182	calcinosis		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29358327
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:3263	piebaldism		ISO	RGD:735659	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Piebaldism	PMID:12444107|PMID:12955764|PMID:24033266|PMID:28492532|PMID:30936914|PMID:32975012
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:3263	piebaldism		ISO	RGD:735659	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Piebaldism	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30936914
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:3263	piebaldism	susceptibility	ISO	RGD:735659	D	RGD:9068941	20200609	RGD		DNA:deletions	PMID:12444107|REF_RGD_ID:1600041
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22580338
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22580338
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11850205
12142713	SNAI2	snail family transcriptional repressor 2	gene	DOID:9258	Waardenburg syndrome		ISO	RGD:11321	D	RGD:9068941	20230713	MouseDO			
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69210	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:69210	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:28774887|REF_RGD_ID:15045601
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:2482	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:liver (rat) treatment with INT-767	PMID:30038487|REF_RGD_ID:15092090
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:10534	stomach cancer		ISO	RGD:69210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:11981	morbid obesity	treatment	ISO	RGD:69210	D	RGD:9068941	20250717	RGD			PMID:27051590|REF_RGD_ID:617212663
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:2482	D	RGD:9068941	20200609	RGD			PMID:27939985|REF_RGD_ID:15036816
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:13580	cholestasis		ISO	RGD:69210	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22461449|PMID:9797378
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:13580	cholestasis	treatment	ISO	RGD:2482	D	RGD:9068941	20200609	RGD			PMID:29655695|REF_RGD_ID:15090803
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:2482	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, nucleus (rat)	PMID:28660384|REF_RGD_ID:21203516
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:2482	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:29360226|REF_RGD_ID:14995480
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:3275	thymoma		ISO	RGD:69210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69210	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:2482	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:16472823|REF_RGD_ID:13782194
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:69210	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8245718
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:2482	D	RGD:9068941	20200609	RGD			PMID:15521018|REF_RGD_ID:15045602
12142723	CYP7A1	cytochrome P450 family 7 subfamily A member 1	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10458	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12142742	STOX1	storkhead box 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1321633	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Y153H (human)	PMID:15806103|REF_RGD_ID:11553888
12142742	STOX1	storkhead box 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1321633	D	RGD:9068941	20200609	RGD		human fetally expressed gene in a mouse model	PMID:23357179|REF_RGD_ID:7248768
12142742	STOX1	storkhead box 1	gene	DOID:10591	pre-eclampsia	no_association	ISO	RGD:1321633	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Y153H (human)	PMID:17617193|REF_RGD_ID:11553890
12142742	STOX1	storkhead box 1	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:1321633	D	RGD:9068941	20200609	RGD		protein:increased expression:CA4 field of hippocampus (human)	PMID:20110611|REF_RGD_ID:11554028
12142742	STOX1	storkhead box 1	gene	DOID:3275	thymoma		ISO	RGD:1321633	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142742	STOX1	storkhead box 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12142742	STOX1	storkhead box 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142742	STOX1	storkhead box 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321633	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12142742	STOX1	storkhead box 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1321633	D	RGD:9068941	20200609	RGD		associated with Pre-Eclampsia; human gene fetally expressed in a mouse model	PMID:26758611|REF_RGD_ID:11553897
12142742	STOX1	storkhead box 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142742	STOX1	storkhead box 1	gene	DOID:9008239	Preeclampsia/Eclampsia 4		ISO	RGD:1321633	D	RGD:7240710	20190327	OMIM			
12142742	STOX1	storkhead box 1	gene	DOID:9008239	Preeclampsia/Eclampsia 4		ISO	RGD:1321633	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREECLAMPSIA/ECLAMPSIA 4 | ClinVar Annotator: match by term: Preeclampsia/eclampsia 4 | ClinVar Annotator: match by term: STOX1-related condition	PMID:25741868
12142751	TFR2	transferrin receptor 2	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12142751	TFR2	transferrin receptor 2	gene	DOID:0111029	hemochromatosis type 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemochromatosis type 1	PMID:23600741|PMID:25741868|PMID:26029709|PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISO	RGD:1320887	D	RGD:7240710	20180130	OMIM			
12142751	TFR2	transferrin receptor 2	gene	DOID:0111030	hemochromatosis type 3		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEMOCHROMATOSIS, TYPE 3 | ClinVar Annotator: match by term: Hemochromatosis type 3 | ClinVar Annotator: match by term: Hereditary hemochromatosis type 3 | ClinVar Annotator: match by term: TFR2-related condition	PMID:10802645|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:15749661|PMID:16199547|PMID:16424658|PMID:16838333|PMID:16923517|PMID:17576681|PMID:18094142|PMID:18245657|PMID:18450729|PMID:19144662|PMID:20179178|PMID:20301523|PMID:21199650|PMID:21524769|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:26151776|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:34946929|PMID:35462491|PMID:35464850|PMID:37990447|PMID:39687529|PMID:9536098
12142751	TFR2	transferrin receptor 2	gene	DOID:0111031	hemochromatosis type 5		ISO	RGD:1320887	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary hemochromatosis type 5	PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142751	TFR2	transferrin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:12241	beta thalassemia		ISO	RGD:1320887	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16755567
12142751	TFR2	transferrin receptor 2	gene	DOID:12241	beta thalassemia		ISO	RGD:1320888	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:16755567|REF_RGD_ID:11062138
12142751	TFR2	transferrin receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142751	TFR2	transferrin receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142751	TFR2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: HFE POLYMORPHISM | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:11313241|PMID:12130528|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18762941|PMID:20301523|PMID:21770687|PMID:21901660|PMID:22890139|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25741868|PMID:26029709|PMID:27667161|PMID:28276324|PMID:28492532|PMID:9536098
12142751	TFR2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Bronze diabetes | ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10802645|PMID:11102989|PMID:11313241|PMID:11358389|PMID:12130528|PMID:12134060|PMID:12150153|PMID:14633868|PMID:15147384|PMID:16199547|PMID:16424658|PMID:17562347|PMID:17576681|PMID:17951290|PMID:18245657|PMID:18450729|PMID:18762941|PMID:20301523|PMID:21770687|PMID:22890139|PMID:22981443|PMID:23556518|PMID:23600741|PMID:24055163|PMID:25640679|PMID:25741868|PMID:26029709|PMID:26183747|PMID:26408288|PMID:27667161|PMID:27896572|PMID:28276324|PMID:28492532|PMID:29985876|PMID:35462491|PMID:9536098
12142751	TFR2	transferrin receptor 2	gene	DOID:2352	hemochromatosis		ISO	RGD:1320887	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary hemochromatosis	PMID:10802645|PMID:12134060|PMID:16199547|PMID:16424658|PMID:17576681|PMID:22981443|PMID:23600741|PMID:24055163|PMID:25640679|PMID:25741868|PMID:26029709|PMID:26408288|PMID:27896572|PMID:28276324|PMID:28492532|PMID:29985876|PMID:35462491|PMID:9536098
12142751	TFR2	transferrin receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142751	TFR2	transferrin receptor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12142751	TFR2	transferrin receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142751	TFR2	transferrin receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142751	TFR2	transferrin receptor 2	gene	DOID:630	genetic disease		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320887	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12142751	TFR2	transferrin receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142751	TFR2	transferrin receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142751	TFR2	transferrin receptor 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:1320887	D	RGD:9068941	20200609	RGD			PMID:15015967|REF_RGD_ID:11062090
12142780	NYAP1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12142780	NYAP1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:3275	thymoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142780	NYAP1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602420	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142780	NYAP1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12142780	NYAP1	neuronal tyrosine phosphorylated phosphoinositide-3-kinase adaptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:5041	esophageal cancer		ISO	RGD:1319233	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:6039	uveal melanoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12142800	MRPL27	mitochondrial ribosomal protein L27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142809	LPAR4	lysophosphatidic acid receptor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142809	LPAR4	lysophosphatidic acid receptor 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142809	LPAR4	lysophosphatidic acid receptor 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350247	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12142815	TRIM56	tripartite motif containing 56	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342742	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12142815	TRIM56	tripartite motif containing 56	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342742	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12142824	CAGE1	cancer antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142824	CAGE1	cancer antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12142824	CAGE1	cancer antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142824	CAGE1	cancer antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1604175	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12142824	CAGE1	cancer antigen 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604175	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142850	CD5L	CD5 molecule like	gene	DOID:10534	stomach cancer		ISO	RGD:1318347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142850	CD5L	CD5 molecule like	gene	DOID:1324	lung cancer		ISO	RGD:1318347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142850	CD5L	CD5 molecule like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12142850	CD5L	CD5 molecule like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318347	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12142883	SPATA25	spermatogenesis associated 25	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142883	SPATA25	spermatogenesis associated 25	gene	DOID:10534	stomach cancer		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12142883	SPATA25	spermatogenesis associated 25	gene	DOID:4362	cervical cancer		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142883	SPATA25	spermatogenesis associated 25	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12142883	SPATA25	spermatogenesis associated 25	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12142889	ERICH6B	glutamate rich 6B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12142889	ERICH6B	glutamate rich 6B	gene	DOID:1324	lung cancer		ISO	RGD:1606127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12142889	ERICH6B	glutamate rich 6B	gene	DOID:3275	thymoma		ISO	RGD:1606127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12142889	ERICH6B	glutamate rich 6B	gene	DOID:4362	cervical cancer		ISO	RGD:1606127	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12142889	ERICH6B	glutamate rich 6B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606127	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:0060058	lymphoma		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:1604638	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Calpainopathy	PMID:25326637|PMID:28492532
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604638	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1	PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25741868|PMID:28492532
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604638	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: PANCREATIC CANCER, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:10454945|PMID:11474289|PMID:17194196|PMID:17415588|PMID:24033266|PMID:25326637|PMID:25741868|PMID:28492532|PMID:33764904
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1	PMID:17194196|PMID:17415588|PMID:25741868|PMID:28492532|PMID:33764904
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:1604638	D	RGD:7240710	20190502	OMIM			
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1604638	D	RGD:9068941	20200609	RGD		protein:increased expression, alternative form:pancreas, fibroblast	PMID:17404500|REF_RGD_ID:2325781
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:17576681|PMID:19336541|PMID:25741868|PMID:28492532|PMID:9536098
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1604638	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:630	genetic disease		ISO	RGD:1604638	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:9000998	Brain Injuries		ISO	RGD:2322545	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, astrocyte	PMID:12932445|REF_RGD_ID:2325786
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:9004657	Weight Gain		ISO	RGD:1604638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12143037	PALLD	palladin, cytoskeletal associated protein	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1604638	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1321684	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1321685	D	RGD:9068941	20230914	MouseDO			
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:1909	melanoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:3275	thymoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1321684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143071	RTF1	RTF1 homolog, Paf1/RNA polymerase II complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143092	TSPYL2	TSPY like 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143092	TSPYL2	TSPY like 2	gene	DOID:1324	lung cancer		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143092	TSPYL2	TSPY like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143092	TSPYL2	TSPY like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143092	TSPYL2	TSPY like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143092	TSPYL2	TSPY like 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1346364	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
12143092	TSPYL2	TSPY like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143092	TSPYL2	TSPY like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346364	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143108	LOC100684393	small nuclear ribonucleoprotein-associated proteins B and B'	gene	DOID:1324	lung cancer		ISO	RGD:1606734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143108	LOC100684393	small nuclear ribonucleoprotein-associated proteins B and B'	gene	DOID:1909	melanoma		ISO	RGD:1606734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143108	LOC100684393	small nuclear ribonucleoprotein-associated proteins B and B'	gene	DOID:3275	thymoma		ISO	RGD:1606734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143108	LOC100684393	small nuclear ribonucleoprotein-associated proteins B and B'	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143108	LOC100684393	small nuclear ribonucleoprotein-associated proteins B and B'	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606734	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143115	PROX2	prospero homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1606668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143115	PROX2	prospero homeobox 2	gene	DOID:1909	melanoma		ISO	RGD:1606668	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143158	FER	FER tyrosine kinase	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12143158	FER	FER tyrosine kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:0060320	inguinal hernia		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
12143158	FER	FER tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143158	FER	FER tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143158	FER	FER tyrosine kinase	gene	DOID:1115	sarcoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143158	FER	FER tyrosine kinase	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1314798	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
12143158	FER	FER tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143158	FER	FER tyrosine kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143158	FER	FER tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:1314798	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143158	FER	FER tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143158	FER	FER tyrosine kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143158	FER	FER tyrosine kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12143158	FER	FER tyrosine kinase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12143158	FER	FER tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143158	FER	FER tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143158	FER	FER tyrosine kinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314798	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:0081241	peroxisome biogenesis disorder 3B		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOMAL BIOGENESIS DISORDER 3B	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:10534	stomach cancer		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:11721	glycogen storage disease VII		IAGP		D	RGD:12801476	20240724	OMIA		Glycogen storage disease VII	PMID:2137952|PMID:2958437|PMID:1840037|PMID:1289336|PMID:7868469|PMID:8702726|PMID:10331362|PMID:11440399|PMID:2940948|PMID:2933748|PMID:3155631|PMID:19228357|PMID:21311071|PMID:2976895|PMID:22446493|PMID:16783707|PMID:8654960|PMID:33348688|PMID:8863387
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:11721	glycogen storage disease VII		ISO	RGD:68621	D	RGD:7240710	20180130	OMIM			
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:11721	glycogen storage disease VII		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE VII | ClinVar Annotator: match by term: Glycogen storage disease type VII | ClinVar Annotator: match by term: Glycogen storage disease, type VII | ClinVar Annotator: match by term: PFKM DEFICIENCY | ClinVar Annotator: match by term: Tarui disease	PMID:16199547|PMID:17576681|PMID:2140573|PMID:22133655|PMID:22364848|PMID:22995305|PMID:24011984|PMID:24033266|PMID:25741868|PMID:27066546|PMID:28492532|PMID:28779239|PMID:7479776|PMID:7513946|PMID:7603525|PMID:7825568|PMID:8037209|PMID:8444874|PMID:8659544|PMID:8880699|PMID:9389749|PMID:9443500|PMID:9536098
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:11830	myopia		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:1324	lung cancer		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:2747	glycogen storage disease		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:68621	D	RGD:9068941	20230803	CTD		CTD Direct Evidence: marker/mechanism	PMID:30792690
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:3070	high grade glioma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:6039	uveal melanoma		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:28492532
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:630	genetic disease		ISO	RGD:68621	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:7998	hyperthyroidism		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:7603525|PMID:8037209|PMID:8444874|PMID:9389749
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9001733	Tinnitus		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9005532	Muscle Weakness		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17576681|PMID:28492532|PMID:9536098
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:68621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563825
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:24033266|PMID:25741868|PMID:28492532|PMID:28779239|PMID:7603525|PMID:8037209|PMID:8444874|PMID:9389749
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:68621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9007736	Vertigo		ISO	RGD:68621	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:25741868
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143187	PFKM	phosphofructokinase, muscle	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:1909	melanoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:3070	high grade glioma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:3275	thymoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12143213	UTP11	UTP11 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731994	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143225	RSPH1	radial spoke head component 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
12143225	RSPH1	radial spoke head component 1	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1317061	D	RGD:9068941	20220513	RGD		DNA:SNP:3'utr: (rs2839531) T>C (human)	PMID:27354594|REF_RGD_ID:152177496
12143225	RSPH1	radial spoke head component 1	gene	DOID:0110594	primary ciliary dyskinesia 1		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
12143225	RSPH1	radial spoke head component 1	gene	DOID:0110628	primary ciliary dyskinesia 24		ISO	RGD:1317061	D	RGD:7240710	20180130	OMIM			
12143225	RSPH1	radial spoke head component 1	gene	DOID:0110628	primary ciliary dyskinesia 24		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24 | ClinVar Annotator: match by term: RSPH1-related condition	PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119|PMID:9536098
12143225	RSPH1	radial spoke head component 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143225	RSPH1	radial spoke head component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143225	RSPH1	radial spoke head component 1	gene	DOID:1324	lung cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143225	RSPH1	radial spoke head component 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143225	RSPH1	radial spoke head component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:23993197|PMID:28492532
12143225	RSPH1	radial spoke head component 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143225	RSPH1	radial spoke head component 1	gene	DOID:630	genetic disease		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12143225	RSPH1	radial spoke head component 1	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
12143225	RSPH1	radial spoke head component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143225	RSPH1	radial spoke head component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143225	RSPH1	radial spoke head component 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119|PMID:9536098
12143225	RSPH1	radial spoke head component 1	gene	DOID:9563	bronchiectasis		ISO	RGD:1317061	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: POLYNESIAN BRONCHIECTASIS	PMID:23993197|PMID:24033266|PMID:24518672|PMID:24568568|PMID:25741868|PMID:26139845|PMID:28492532|PMID:30609409|PMID:31772028|PMID:31980526|PMID:32253119
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:1324	lung cancer		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:1909	melanoma		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:2394	ovarian cancer		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1606446	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143247	KANSL1L	KAT8 regulatory NSL complex subunit 1 like	gene	DOID:9256	colorectal cancer		ISO	RGD:1606446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12143284	CCDC42	coiled-coil domain containing 42	gene	DOID:1324	lung cancer		ISO	RGD:1601721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143284	CCDC42	coiled-coil domain containing 42	gene	DOID:1909	melanoma		ISO	RGD:1601721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:0060058	lymphoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143295	NIPSNAP2	nipsnap homolog 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1347101	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143313	VSIG1	V-set and immunoglobulin domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347101	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:0060346	congenital myopathy 13		ISO	RGD:1319045	D	RGD:7240710	20180130	OMIM			
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:0060346	congenital myopathy 13		ISO	RGD:1319045	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: STAC3-related disorder	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28411587|PMID:28492532|PMID:28777491|PMID:30168660|PMID:32492370|PMID:9536098
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:0080600	COVID-19		ISO	RGD:1319045	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1319045	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:23626854|PMID:25741868|PMID:28411587|PMID:28777491
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:10534	stomach cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:1115	sarcoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:1324	lung cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:1909	melanoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:4362	cervical cancer		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1319045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:630	genetic disease		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319045	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1319045	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1319045	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12143326	STAC3	SH3 and cysteine rich domain 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12143345	LOC481841	glutathione S-transferase-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143345	LOC481841	glutathione S-transferase-like	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737133	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12143345	LOC481841	glutathione S-transferase-like	gene	DOID:1324	lung cancer		ISO	RGD:737133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143345	LOC481841	glutathione S-transferase-like	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737133	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:0060748	familial temporal lobe epilepsy 1		ISO	RGD:1604315	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1	PMID:25741868|PMID:28492532
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1604315	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: MICAL1-related Lateral temporal epilepsy | ClinVar Annotator: match by term: MICAL1-related lateral temporal epilepsy	PMID:17576681|PMID:28492532|PMID:9536098
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143356	MICAL1	microtubule associated monooxygenase, calponin and LIM domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604315	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:1572	normal pressure hydrocephalus		ISO	RGD:1332079	D	RGD:9068941	20230309	MouseDO		OMIM:236690	
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1602204	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1602204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12143382	CWH43	cell wall biogenesis 43 C-terminal homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143401	GAL3ST3	galactose-3-O-sulfotransferase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343263	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12143401	GAL3ST3	galactose-3-O-sulfotransferase 3	gene	DOID:1115	sarcoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143401	GAL3ST3	galactose-3-O-sulfotransferase 3	gene	DOID:3275	thymoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143401	GAL3ST3	galactose-3-O-sulfotransferase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:0070660	Lafora disease 1		ISO	RGD:736258	D	RGD:7240710	20240131	OMIM			
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:0070660	Lafora disease 1		ISO	RGD:736258	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EPM2A-related condition | ClinVar Annotator: match by term: LAFORA DISEASE 1 | ClinVar Annotator: match by term: MYOCLONIC EPILEPSY OF LAFORA 1 | ClinVar Annotator: match by term: Myoclonic epilepsy of Lafora 1	PMID:10932264|PMID:11175283|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:18617530|PMID:19403557|PMID:20738377|PMID:21623095|PMID:22047982|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081|PMID:33773408|PMID:34568804|PMID:34755096|PMID:37448753|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:10534	stomach cancer		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:1059	intellectual disability		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:28492532
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:1115	sarcoma		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:1826	epilepsy		ISO	RGD:736258	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:3534	Lafora disease		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Epilepsy progressive myoclonic  2 | ClinVar Annotator: match by term: Lafora disease	PMID:12019207|PMID:14532330|PMID:14722920|PMID:17337485|PMID:20738377|PMID:25544560|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081|PMID:31690835|PMID:34755096
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:630	genetic disease		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22618127|PMID:25741868|PMID:26467025|PMID:28492532
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:83	cataract		ISO	RGD:736258	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:31493945|PMID:9536098|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:12019207|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18311786|PMID:18414213|PMID:20738377|PMID:21623095|PMID:25246353|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28492532|PMID:30041081|PMID:9536098|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:34117373|PMID:9536098|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:10932264|PMID:11175283|PMID:11735300|PMID:11739371|PMID:12019207|PMID:14532330|PMID:14706656|PMID:14722920|PMID:16021330|PMID:16134145|PMID:16199547|PMID:16311711|PMID:17010495|PMID:17389303|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:18414213|PMID:19403557|PMID:20738377|PMID:21623095|PMID:21652633|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:27843123|PMID:28492532|PMID:28800070|PMID:28934672|PMID:30041081|PMID:30947044|PMID:31227012|PMID:31493945|PMID:32342326|PMID:33773408|PMID:34117373|PMID:34568804|PMID:34755096|PMID:9536098|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonic epilepsy, progressive, X-linked | ClinVar Annotator: match by term: Progressive myoclonic epilepsy | ClinVar Annotator: match by term: Progressive myoclonus epilepsy	PMID:10932264|PMID:11175283|PMID:14532330|PMID:14722920|PMID:16199547|PMID:16311711|PMID:17509003|PMID:17576681|PMID:18029386|PMID:18311786|PMID:19403557|PMID:20738377|PMID:25246353|PMID:25544560|PMID:25741868|PMID:26467025|PMID:26493215|PMID:27574708|PMID:28492532|PMID:28800070|PMID:30041081|PMID:30947044|PMID:31227012|PMID:32342326|PMID:34755096|PMID:38407811|PMID:9536098|PMID:9771710|PMID:9931343
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:736258	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:14722920|PMID:20738377|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30041081
12143415	EPM2A	EPM2A glucan phosphatase, laforin	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:1115	sarcoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:8398	osteoarthritis		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9004657	Weight Gain		ISO	RGD:737114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9007661	Dwarfism		ISO	RGD:737114	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12143427	CLIC4	chloride intracellular channel 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143437	CHRM5	cholinergic receptor muscarinic 5	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:1350007	D	RGD:9068941	20250313	RGD		DNA:SNP:exon 2: (rs7162140 ) (human)	PMID:17608938|REF_RGD_ID:597830180
12143437	CHRM5	cholinergic receptor muscarinic 5	gene	DOID:0060001	withdrawal disorder		ISO	RGD:1350007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12154229
12143437	CHRM5	cholinergic receptor muscarinic 5	gene	DOID:1574	alcohol use disorder		ISO	RGD:620027	D	RGD:9068941	20250320	RGD		mRNA:increased expression:brain (rat)	PMID:33942300|REF_RGD_ID:597957923
12143437	CHRM5	cholinergic receptor muscarinic 5	gene	DOID:1849	cannabis dependence	susceptibility	ISO	RGD:1350007	D	RGD:9068941	20250313	RGD		DNA:SNP:exon 2: (rs7162140 ) (human)	PMID:17608938|REF_RGD_ID:597830180
12143437	CHRM5	cholinergic receptor muscarinic 5	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1350007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:13130510
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:mouth mucosa:	PMID:22882088|REF_RGD_ID:9587477
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer		ISO	RGD:1316940	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:	PMID:19309489|REF_RGD_ID:9587461
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316940	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ADHD	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:1115	sarcoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:3068	glioblastoma		ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:24039914|REF_RGD_ID:9587472
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:24039914|REF_RGD_ID:9587472
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:403	mouth disease		ISO	RGD:1316940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17682004
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1316940	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316940	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:8923	skin melanoma	severity	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:skin:	PMID:20178651|REF_RGD_ID:9587476
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:9003216	Salivary Gland Neoplasms	disease_progression	ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression:salivary gland:	PMID:21109952|REF_RGD_ID:9587467
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:1316940	D	RGD:9068941	20200609	RGD		protein:increased expression::	PMID:22882088|REF_RGD_ID:9587477
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143446	CHAF1B	chromatin assembly factor 1 subunit B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316940	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143466	METAP1D	methionyl aminopeptidase type 1D, mitochondrial	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605558	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:1115	sarcoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:1909	melanoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:3275	thymoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:4362	cervical cancer		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:585	nephrolithiasis		ISO	RGD:733515	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11746443 (human)	PMID:22396660|REF_RGD_ID:7242927
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:733515	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143480	RGS14	regulator of G protein signaling 14	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:0060770	dextro-looped transposition of the great arteries		ISO	RGD:1320220	D	RGD:9068941	20220825	MouseDO			
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143499	DVL2	dishevelled segment polarity protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143529	PLK1	polo like kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143529	PLK1	polo like kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353801	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12143529	PLK1	polo like kinase 1	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1353801	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Trichothiodystrophy	PMID:25741868
12143529	PLK1	polo like kinase 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:15948124|REF_RGD_ID:2299939
12143529	PLK1	polo like kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143529	PLK1	polo like kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143529	PLK1	polo like kinase 1	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD			PMID:16837776|REF_RGD_ID:2299938
12143529	PLK1	polo like kinase 1	gene	DOID:1240	leukemia		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26008977
12143529	PLK1	polo like kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143529	PLK1	polo like kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143529	PLK1	polo like kinase 1	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:14970859|REF_RGD_ID:2299941
12143529	PLK1	polo like kinase 1	gene	DOID:289	endometriosis		ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression	PMID:18353325|REF_RGD_ID:2299937
12143529	PLK1	polo like kinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22000864
12143529	PLK1	polo like kinase 1	gene	DOID:3459	breast carcinoma	severity	ISO	RGD:1353801	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:15785925|REF_RGD_ID:2299942
12143529	PLK1	polo like kinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12143529	PLK1	polo like kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353801	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143529	PLK1	polo like kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143529	PLK1	polo like kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353801	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12143529	PLK1	polo like kinase 1	gene	DOID:9007479	Habitual Abortions		ISO	RGD:1353801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Recurrent spontaneous abortion	
12143529	PLK1	polo like kinase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1353801	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12143543	PRMT6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1312299	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27506785
12143543	PRMT6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:1304701	D	RGD:9068941	20250327	RGD			PMID:27506785|REF_RGD_ID:11561325
12143543	PRMT6	protein arginine methyltransferase 6	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:1550002	D	RGD:9068941	20250327	RGD			PMID:27506785|REF_RGD_ID:11561325
12143543	PRMT6	protein arginine methyltransferase 6	gene	DOID:9975	cocaine dependence		ISO	RGD:1312299	D	RGD:9068941	20250327	RGD		mRNA:decreased expression:nucleus accumbens (human)	PMID:27506785|REF_RGD_ID:11561325
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:7240710	20190315	OMIM			
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:0110880	holoprosencephaly 4		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 4 | ClinVar Annotator: match by term: Holoprosencephaly 4 | ClinVar Annotator: match by term: TGIF1-related condition | ClinVar Annotator: match by term: holoprosencephaly 4	PMID:10835638|PMID:11810641|PMID:16199538|PMID:16962354|PMID:17001671|PMID:19431187|PMID:21940735|PMID:22125506|PMID:25741868|PMID:28492532|PMID:34440302
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:10754	otitis media		ISO	RGD:1321464	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:4621	holoprosencephaly		ISO	RGD:1321463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1321463	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1321463	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:767	muscular atrophy		ISO	RGD:1310517	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Hepatocellular; mRNA:increased expression:gastrocnemius muscle (rat)	PMID:14718385|REF_RGD_ID:1641826
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1321463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29746904
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1310517	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus (rat)	PMID:15153551|REF_RGD_ID:1599409
12143549	TGIF1	TGFB induced factor homeobox 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1321463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25791921
12143561	SERPINB8	serpin family B member 8	gene	DOID:0060283	peeling skin syndrome		ISO	RGD:1320387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12143561	SERPINB8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:7240710	20190315	OMIM			
12143561	SERPINB8	serpin family B member 8	gene	DOID:0070524	peeling skin syndrome 5		ISO	RGD:1320387	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: PEELING SKIN SYNDROME 5 | ClinVar Annotator: match by term: Peeling skin syndrome 5 | ClinVar Annotator: match by term: SERPINB8-related condition	PMID:25741868|PMID:27476651|PMID:28492532
12143561	SERPINB8	serpin family B member 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143561	SERPINB8	serpin family B member 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143561	SERPINB8	serpin family B member 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143561	SERPINB8	serpin family B member 8	gene	DOID:8893	psoriasis		ISO	RGD:1320387	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187
12143561	SERPINB8	serpin family B member 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143575	TBATA	thymus, brain and testes associated	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1322498	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease | ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12143575	TBATA	thymus, brain and testes associated	gene	DOID:1115	sarcoma		ISO	RGD:1322498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143575	TBATA	thymus, brain and testes associated	gene	DOID:3275	thymoma		ISO	RGD:1322498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:0050855	renal fibrosis		ISO	RGD:1553522	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex:	PMID:22342673|REF_RGD_ID:7245951
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:0060180	colitis		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney:	PMID:23307618|REF_RGD_ID:7245473
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:10763	hypertension		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:23085980|REF_RGD_ID:7245484
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:10825	essential hypertension		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:22923545|REF_RGD_ID:7245500
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:21279810|REF_RGD_ID:7245985
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:12556	acute kidney tubular necrosis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney tubule, urine:	PMID:12081583|REF_RGD_ID:7245970
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19225054
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:22923545|REF_RGD_ID:7245500
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:1920	hyperuricemia		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23673972|REF_RGD_ID:7244371
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:15153541|REF_RGD_ID:5128853
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:2527	nephrosis		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:17213874|REF_RGD_ID:7246891
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:2841	asthma		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:20628202|REF_RGD_ID:5128851
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23135864|REF_RGD_ID:7245479
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:21467131|REF_RGD_ID:7245983
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20118187|PMID:21259293|PMID:21835770|PMID:22005293|PMID:23052191|PMID:23845967|PMID:24189134|PMID:24361871|PMID:24958931|PMID:28885000
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		associated with Pyelonephritis;protein:increased expression:urine:	PMID:23319831|REF_RGD_ID:7245472
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:1553522	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:23019274|REF_RGD_ID:7245495
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3021	acute kidney failure		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:23683031|REF_RGD_ID:7244370
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:16159638|REF_RGD_ID:5128852
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:3310	atopic dermatitis	susceptibility	ISO	RGD:1352552	D	RGD:9068941	20260806	RGD		DNA:insertion:exon:157insMTTTVP	PMID:16940744|REF_RGD_ID:736803843
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23352434|REF_RGD_ID:7245470
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1352552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:1553522	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney tubule:	PMID:22257277|REF_RGD_ID:7245953
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:557	kidney disease		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19349640|PMID:20181666|PMID:20438795|PMID:21888673|PMID:23019274|PMID:24863737|PMID:24880025
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:557	kidney disease	disease_progression	ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		associated with Antineutrophil Cytoplasmic Antibody-associated Vasculitis;	PMID:23547217|REF_RGD_ID:7244373
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:576	proteinuria		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19225054
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:576	proteinuria		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney,urine	PMID:16467126|REF_RGD_ID:7245980
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352552	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:784	chronic kidney disease		ISO	RGD:708425	D	RGD:9068941	20200609	RGD			PMID:22269876|REF_RGD_ID:7245952
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1553522	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:12388382|REF_RGD_ID:7245969
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:22937747|REF_RGD_ID:7245499
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9001542	Albuminuria		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;protein:increased expression:urine:	PMID:21630304|REF_RGD_ID:7245982
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus,Type 2;protein:increased expression:urine:	PMID:22015481|REF_RGD_ID:7245960
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22997966|REF_RGD_ID:7245497
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9002165	Diabetic Nephropathies	disease_progression	ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		associated with Diabetes mellitus, Type 1;	PMID:20980978|REF_RGD_ID:7246890
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23435265|REF_RGD_ID:7244382
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23131280|REF_RGD_ID:7245480
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9005666	Contrast-Induced Nephropathy		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:23335628|REF_RGD_ID:7245471
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9005749	Necrosis		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24880025
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:23085062|REF_RGD_ID:7245489
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1553522	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:23019274|REF_RGD_ID:7245495
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:urine:	PMID:23552495|REF_RGD_ID:7244372
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072|PMID:24361871|PMID:28885000
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:708425	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9007325	Cardio-Renal Syndrome		ISO	RGD:708425	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney tubule:	PMID:22367506|REF_RGD_ID:7245950
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9007325	Cardio-Renal Syndrome	susceptibility	ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23220287|REF_RGD_ID:7245477
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352552	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9008727	Ige Responsiveness, Atopic		ISO	RGD:1352552	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IgE responsiveness, atopic	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143590	HAVCR1	hepatitis A virus cellular receptor 1	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1352552	D	RGD:9068941	20200609	RGD			PMID:23200959|REF_RGD_ID:7245478
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:62246	D	RGD:9068941	20220825	MouseDO			
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0060058	lymphoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:732793	D	RGD:9068941	20200609	RGD			PMID:22886747|REF_RGD_ID:7775026
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:1909	melanoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732793	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732793	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:61953	D	RGD:9068941	20210312	RGD		protein:increased activity:kidney:	PMID:15629889|REF_RGD_ID:8693572
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:5419	schizophrenia		ISO	RGD:732793	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:20691406
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:576	proteinuria		ISO	RGD:732793	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20071462
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9000127	Knobloch Syndrome Type II		ISO	RGD:732793	D	RGD:7240710	20220810	OMIM			
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9000127	Knobloch Syndrome Type II		ISO	RGD:732793	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Knobloch syndrome 2	PMID:25741868|PMID:33693784|PMID:37808560|PMID:38712026|PMID:38894571
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9002033	Knobloch Syndrome		ISO	RGD:732793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Knobloch syndrome	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:61953	D	RGD:9068941	20210312	RGD			PMID:20071462|REF_RGD_ID:9835041
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732793	D	RGD:9068941	20200609	RGD			PMID:22886747|REF_RGD_ID:7775026
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143621	PAK2	p21 (RAC1) activated kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732793	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:1115	sarcoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:3275	thymoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143647	ADPRHL1	ADP-ribosylhydrolase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143665	KASH5	KASH domain containing 5	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1602065	D	RGD:7240710	20231101	OMIM			
12143665	KASH5	KASH domain containing 5	gene	DOID:0070587	spermatogenic failure 88		ISO	RGD:1602065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 88 | ClinVar Annotator: match by term: Spermatogenic failure 88	PMID:25741868
12143665	KASH5	KASH domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143665	KASH5	KASH domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143665	KASH5	KASH domain containing 5	gene	DOID:14227	azoospermia		ISO	RGD:1602065	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Azoospermia	PMID:25741868
12143665	KASH5	KASH domain containing 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12143665	KASH5	KASH domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143665	KASH5	KASH domain containing 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602065	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12143665	KASH5	KASH domain containing 5	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602065	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868|PMID:35708642
12143665	KASH5	KASH domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602065	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143665	KASH5	KASH domain containing 5	gene	DOID:9008187	Primary Ovarian Insufficiency 22		ISO	RGD:1602065	D	RGD:7240710	20231025	OMIM			
12143665	KASH5	KASH domain containing 5	gene	DOID:9008187	Primary Ovarian Insufficiency 22		ISO	RGD:1602065	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PREMATURE OVARIAN FAILURE 22	PMID:25741868
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0051061	stroke		ISO	RGD:735989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0061083	immunodeficiency 117		ISO	RGD:735989	D	RGD:7240710	20240124	OMIM			
12143704	IRF1	interferon regulatory factor 1	gene	DOID:0061083	immunodeficiency 117		ISO	RGD:735989	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 117	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:735989	D	RGD:7240710	20220209	OMIM			
12143704	IRF1	interferon regulatory factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:735989	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:2920	D	RGD:9068941	20200609	RGD			PMID:14605445|REF_RGD_ID:5128787
12143704	IRF1	interferon regulatory factor 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglion	PMID:20045913|REF_RGD_ID:5128775
12143704	IRF1	interferon regulatory factor 1	gene	DOID:1324	lung cancer		ISO	RGD:735989	D	RGD:7240710	20240124	OMIM			
12143704	IRF1	interferon regulatory factor 1	gene	DOID:1485	cystic fibrosis		ISO	RGD:10815	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine epithelium, nasal cavity epithelium	PMID:10930443|REF_RGD_ID:5128720
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:10815	D	RGD:9068941	20201218	RGD			PMID:11861827|REF_RGD_ID:40902828
12143704	IRF1	interferon regulatory factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2841	asthma		ISO	RGD:735989	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory tract epithelium	PMID:10225979|REF_RGD_ID:5128723
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2841	asthma	no_association	ISO	RGD:735989	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, cds:-300G>T, 4396A>G, 6355G>A (human)	PMID:11069564|REF_RGD_ID:5128726
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:735989	D	RGD:9068941	20200609	RGD		DNA:repeat:intron (human)	PMID:16961714|REF_RGD_ID:5128724
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		DNA:deletions (rat)	PMID:19075038|REF_RGD_ID:5128782
12143704	IRF1	interferon regulatory factor 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:10815	D	RGD:9068941	20200609	RGD			PMID:11083808|REF_RGD_ID:5128719
12143704	IRF1	interferon regulatory factor 1	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:735989	D	RGD:9068941	20200609	RGD			PMID:9679752|REF_RGD_ID:1600013
12143704	IRF1	interferon regulatory factor 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735989	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735989	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:5199	ureteral obstruction		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:12787392|REF_RGD_ID:2317694
12143704	IRF1	interferon regulatory factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:850	lung disease		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		associated with Endotoxemia	PMID:11880315|REF_RGD_ID:5128716
12143704	IRF1	interferon regulatory factor 1	gene	DOID:8736	smallpox	treatment	ISO	RGD:735989	D	RGD:9068941	20210305	RGD		DNA:SNPs,haplotype: :rs839, rs9282763(human)	PMID:18454680|REF_RGD_ID:42722608
12143704	IRF1	interferon regulatory factor 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:10815	D	RGD:9068941	20200609	RGD			PMID:11854220|REF_RGD_ID:5128725
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2920	D	RGD:9068941	20200609	RGD			PMID:11723173|REF_RGD_ID:2298928
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:735989	D	RGD:9068941	20220217	CTD		CTD Direct Evidence: marker/mechanism	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:12503083|REF_RGD_ID:2317873
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:735989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21549006
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2920	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:12437578|REF_RGD_ID:632385
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735989	D	RGD:9068941	20240125	CTD		CTD Direct Evidence: marker/mechanism	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735989	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735989	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12143704	IRF1	interferon regulatory factor 1	gene	DOID:9008680	Respiratory Tract Infections		ISO	RGD:10815	D	RGD:9068941	20200609	RGD			PMID:10497103|REF_RGD_ID:5128721
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:1909	melanoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:3275	thymoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143718	RPRD1A	regulation of nuclear pre-mRNA domain containing 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605654	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143734	ZNF674	zinc finger protein 674	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143734	ZNF674	zinc finger protein 674	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143734	ZNF674	zinc finger protein 674	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143734	ZNF674	zinc finger protein 674	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1602785	D	RGD:9068941	20210122	CTD		CTD Direct Evidence: marker/mechanism	PMID:16385466
12143734	ZNF674	zinc finger protein 674	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143844	ZNF793	zinc finger protein 793	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143844	ZNF793	zinc finger protein 793	gene	DOID:1324	lung cancer		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143844	ZNF793	zinc finger protein 793	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12143844	ZNF793	zinc finger protein 793	gene	DOID:4362	cervical cancer		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143844	ZNF793	zinc finger protein 793	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12143844	ZNF793	zinc finger protein 793	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12143844	ZNF793	zinc finger protein 793	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143844	ZNF793	zinc finger protein 793	gene	DOID:9206	Barrett's esophagus		ISO	RGD:1602030	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:esophageal squamous epithelium	PMID:26545406|REF_RGD_ID:11552890
12143844	ZNF793	zinc finger protein 793	gene	DOID:9256	colorectal cancer		ISO	RGD:1602030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract	PMID:15188439|PMID:19404256|PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346685	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38425142
12143874	FEZF2	FEZ family zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1346685	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:38425142
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:0061085	immunodeficiency 119		ISO	RGD:1354040	D	RGD:7240710	20250305	OMIM			
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:0061085	immunodeficiency 119		ISO	RGD:1354040	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 119	PMID:28492532|PMID:30498080|PMID:34694545
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:0111962	combined immunodeficiency		ISO	RGD:1354040	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency	PMID:25741868|PMID:30498080
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:10608	celiac disease		ISO	RGD:1354040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:1324	lung cancer		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:5041	esophageal cancer		ISO	RGD:1354040	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:630	genetic disease		ISO	RGD:1354040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:8577	ulcerative colitis		ISO	RGD:1354040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20228799
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12143884	ICOSLG	inducible T cell costimulator ligand	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354040	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143895	PFDN2	prefoldin subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1349968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143895	PFDN2	prefoldin subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349968	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12143903	SAMD8	sterile alpha motif domain containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143903	SAMD8	sterile alpha motif domain containing 8	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12143903	SAMD8	sterile alpha motif domain containing 8	gene	DOID:3070	high grade glioma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12143903	SAMD8	sterile alpha motif domain containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143922	PRELID3A	PRELI domain containing 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12143922	PRELID3A	PRELI domain containing 3A	gene	DOID:3275	thymoma		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12143922	PRELID3A	PRELI domain containing 3A	gene	DOID:4362	cervical cancer		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143922	PRELID3A	PRELI domain containing 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12143922	PRELID3A	PRELI domain containing 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:0080599	Coronavirus infectious disease		ISO	RGD:1606328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24227843
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1606328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24227843
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:4362	cervical cancer		ISO	RGD:1606328	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:9001488	Human Influenza		ISO	RGD:1606328	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20237084|PMID:23072892
12143943	TMPRSS11D	transmembrane serine protease 11D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606321	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:1612	breast cancer		ISO	RGD:1606321	D	RGD:9068941	20200609	RGD		protein:increased expression:breast tumor cell, cytoplasm (human)	PMID:20847343|REF_RGD_ID:5688064
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:1936	atherosclerosis		ISO	RGD:1606321	D	RGD:9068941	20200609	RGD		protein:decreased expression:mammary arteries (human)	PMID:14736553|REF_RGD_ID:5688075
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:3181	oligodendroglioma		ISO	RGD:1606321	D	RGD:9068941	20200609	RGD		protein:increased expression:brain cortex, white matter (human)	PMID:19347995|REF_RGD_ID:5688067
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:3602	toxic encephalopathy		ISO	RGD:1606321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29471019
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1606321	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606321	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1561913	D	RGD:9068941	20200609	RGD			PMID:16192391|REF_RGD_ID:5688057
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1561913	D	RGD:9068941	20200609	RGD		mRNA:increased expression:paw (rat)	PMID:12707354|REF_RGD_ID:2300108
12143955	PTGES3	prostaglandin E synthase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12143967	C37H2orf88	chromosome 37 C2orf88 homolog	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:1601946	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12143991	HCRTR2	hypocretin receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1351591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12143991	HCRTR2	hypocretin receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1351591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12143991	HCRTR2	hypocretin receptor 2	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:2788	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:12217430|REF_RGD_ID:1358430
12143991	HCRTR2	hypocretin receptor 2	gene	DOID:8986	narcolepsy		IAGP		D	RGD:12801476	20250423	OMIA		Narcolepsy	PMID:2557958|PMID:1689603|PMID:2563354|PMID:1972749|PMID:1645207|PMID:1673032|PMID:1831837|PMID:1687464|PMID:1455131|PMID:1393561|PMID:8095546|PMID:8095066|PMID:8275992|PMID:8008205|PMID:8008206|PMID:7991953|PMID:7701206|PMID:7701203|PMID:7623112|PMID:7579139|PMID:8746387|PMID:8764647|PMID:8891251|PMID:8905685|PMID:9050784|PMID:9185233|PMID:9377531|PMID:9236248|PMID:9462456|PMID:9481825|PMID:9870955|PMID:9987919|PMID:10458611|PMID:10552257|PMID:11282968|PMID:11442359|PMID:11682143|PMID:12044453|PMID:12846289|PMID:14746368|PMID:15308685|PMID:19689311|PMID:18714784|PMID:17873267|PMID:4736237|PMID:4472992|PMID:945254|PMID:562026|PMID:72649|PMID:574310|PMID:6996290|PMID:7199479|PMID:6188216|PMID:6539848|PMID:3010425|PMID:3704431|PMID:3704433|PMID:3704445|PMID:3775753|PMID:3828787|PMID:2523880|PMID:10471483|PMID:23582416|PMID:33556640|PMID:33313880|PMID:38747534|PMID:38003185|PMID:40095233
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0050567	orofacial cleft		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft lip/palate	PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0060058	lymphoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0070249	autosomal dominant Emery-Dreifuss muscular dystrophy 4		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant	PMID:25741868|PMID:25790162|PMID:8875242|PMID:9042910
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0080789	Treacher Collins syndrome 1		ISO	RGD:1320415	D	RGD:7240710	20200708	OMIM			
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0080789	Treacher Collins syndrome 1		ISO	RGD:1320415	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TCOF1-related condition | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 1 | ClinVar Annotator: match by term: Treacher Collins syndrome 1 | ClinVar Annotator: match by term: Treacher collins syndrome 1	PMID:10982400|PMID:11013442|PMID:12114482|PMID:12444270|PMID:15019983|PMID:15150774|PMID:15214011|PMID:15340364|PMID:15759264|PMID:16199547|PMID:17576681|PMID:20003452|PMID:20301704|PMID:21951868|PMID:22317976|PMID:23967202|PMID:24994558|PMID:25741868|PMID:25790162|PMID:26467025|PMID:28492532|PMID:29230583|PMID:30311386|PMID:31307516|PMID:32909271|PMID:33057194|PMID:33332773|PMID:34515852|PMID:35982159|PMID:37938362|PMID:8875242|PMID:8894686|PMID:9042910|PMID:9096354|PMID:9536098|PMID:9736782|PMID:9811939
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:0110214	cleft soft palate		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft soft palate	PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320415	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:1909	melanoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:2908	Treacher Collins syndrome		ISO	RGD:1320415	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Treacher Collins syndrome | ClinVar Annotator: match by term: Treacher-Collins syndrome	PMID:22317976|PMID:25741868|PMID:28492532|PMID:8894686
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:3275	thymoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1320415	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33057194|PMID:34515852|PMID:35982159
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:674	cleft palate		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9005700	Airway Obstruction		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Airway obstruction	PMID:25741868
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9008003	Mandibulofacial Dysostosis		ISO	RGD:1320415	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: TREACHER COLLINS-FRANCESCHETTI SYNDROME	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320415	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16938878
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12144002	TCOF1	treacle ribosome biogenesis factor 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1320415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12144031	ZFP2	ZFP2 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144031	ZFP2	ZFP2 zinc finger protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144031	ZFP2	ZFP2 zinc finger protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604799	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:1059	intellectual disability		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:1115	sarcoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:12849	autistic disorder		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:1909	melanoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12144079	AGMO	alkylglycerol monooxygenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144097	JRKL	JRK like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144097	JRKL	JRK like	gene	DOID:1115	sarcoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144097	JRKL	JRK like	gene	DOID:3275	thymoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144097	JRKL	JRK like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319078	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:69480	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144102	PDK1	pyruvate dehydrogenase kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144117	EDEM2	ER degradation enhancing alpha-mannosidase like protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1354312	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:1059	intellectual disability		ISO	RGD:1320291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:12450	pancytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancytopenia	PMID:25741868|PMID:28492532
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:1588	thrombocytopenia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:2355	anemia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:3275	thymoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:4362	cervical cancer		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:4961	bone marrow disease		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dysplasia	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:7240710	20191211	OMIM			
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9009112	Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5		ISO	RGD:1320291	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5 | ClinVar Annotator: match by term: ZCCHC8-related condition	PMID:25741868|PMID:28492532|PMID:31488579
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320291	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Inherited acute myeloid leukemia	PMID:25741868
12144132	ZCCHC8	zinc finger CCHC-type containing 8	gene	DOID:9655	oral mucosa leukoplakia		ISO	RGD:1320291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oral mucosa leukoplakia	PMID:25741868
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:736585	D	RGD:8554872	20230718	ClinVar		ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:25741868
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0080065	autosomal recessive spinocerebellar ataxia 19		ISO	RGD:736585	D	RGD:7240710	20180130	OMIM			
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0080065	autosomal recessive spinocerebellar ataxia 19		ISO	RGD:736585	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LICHTENSTEIN-KNORR SYNDROME | ClinVar Annotator: match by term: Lichtenstein-Knorr syndrome | ClinVar Annotator: match by term: Lichtenstein-knorr syndrome | ClinVar Annotator: match by term: SLC9A1-related condition	PMID:25741868|PMID:28492532
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:10534	stomach cancer		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19111554
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:1459	hypothyroidism		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart, microsome	PMID:12039959|REF_RGD_ID:625494
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:1591	renovascular hypertension	treatment	ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:12218313|REF_RGD_ID:727424
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:1826	epilepsy		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:1909	melanoma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:2394	ovarian cancer		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:3070	high grade glioma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:31250553|REF_RGD_ID:14985213
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:4989	pancreatitis		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatitis	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:576	proteinuria		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:31250553|REF_RGD_ID:14985213
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:6000	congestive heart failure		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19027022
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:6000	congestive heart failure		ISO	RGD:736585	D	RGD:9068941	20200609	RGD			PMID:18776042|REF_RGD_ID:6771337
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:630	genetic disease		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:7998	hyperthyroidism		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, microsome	PMID:12039959|REF_RGD_ID:625494
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:83	cataract		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22407349|REF_RGD_ID:8693684
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9000197	Edema		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20553904
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9000641	Pain		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19248819
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9001581	Constipation		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:19384202|REF_RGD_ID:6771334
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17724433
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9002661	Diabetes Complications		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18057998|REF_RGD_ID:6771339
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:20883671|REF_RGD_ID:6771331
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:20337040|REF_RGD_ID:6771332
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19027022
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:19179646|REF_RGD_ID:6771336
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20003708
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		mRNA:increased expression:right ventricle myocardium	PMID:22588937|REF_RGD_ID:6771239
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:17356886|REF_RGD_ID:1625560
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886221
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9007661	Dwarfism		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532|PMID:30018422
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3718	D	RGD:9068941	20200609	RGD			PMID:22803959|REF_RGD_ID:6771238
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9206	Barrett's esophagus		ISO	RGD:736585	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127259
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3718	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart	PMID:22009485|REF_RGD_ID:6771327
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:936	brain disease		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12144154	SLC9A1	solute carrier family 9 member A1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:736585	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0051064	left ventricular failure		ISO	RGD:734431	D	RGD:9068941	20260305	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:29353218|PMID:40885409
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0060180	colitis	treatment	ISO	RGD:734432	D	RGD:9068941	20210312	RGD			PMID:30142311|REF_RGD_ID:42724458
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0070658	alcohol-associated liver disease	severity	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:rs35652124(human)	PMID:31340446|REF_RGD_ID:21201311
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:31906014|REF_RGD_ID:21201307
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0070747	immunodeficiency, developmental delay, and hypohomocysteinemia		ISO	RGD:734431	D	RGD:7240710	20190315	OMIM			
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0070747	immunodeficiency, developmental delay, and hypohomocysteinemia		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA | ClinVar Annotator: match by term: Immunodeficiency, developmental delay, and hypohomocysteinemia | ClinVar Annotator: match by term: NFE2L2-related condition | ClinVar Annotator: match by term: immunodeficiency, developmental delay, and hypohomocysteinemia	PMID:24130096|PMID:25741868|PMID:28492532|PMID:29018201|PMID:31107239
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25294219
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23592516|REF_RGD_ID:10412712
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:25385666|REF_RGD_ID:21201312
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:30855558|REF_RGD_ID:26884463
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10247	pleurisy		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:14673141|REF_RGD_ID:6893408
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10603	glucose intolerance		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, nucleus	PMID:23771816|REF_RGD_ID:10412683
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:5' utr, intron:multiple (human)	PMID:20064547|REF_RGD_ID:6893326
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22913737|REF_RGD_ID:10412685
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:734431	D	RGD:9068941	20200609	RGD			PMID:19805328|REF_RGD_ID:10412689
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10763	hypertension		ISO	RGD:734431	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32165127
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10763	hypertension	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|PMID:23775684|REF_RGD_ID:10412717|REF_RGD_ID:401793732
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:10923	sickle cell anemia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:12306	vitiligo		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28836394
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:12858	Huntington's disease		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		mRNA:increased expression:striatum	PMID:24008671|REF_RGD_ID:10412688
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:1324	lung cancer		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:13580	cholestasis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20977460
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:13619	extrahepatic cholestasis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:31900718|REF_RGD_ID:21201303
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:18757741|PMID:23936606|PMID:24366543|PMID:25135868|PMID:29615460|PMID:30150714|PMID:34069882|PMID:35101336
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:161	keratosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:28	endocrine system disease		ISO	RGD:734431	D	RGD:9068941	20241205	CTD		CTD Direct Evidence: marker/mechanism	PMID:38043716
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:2841	asthma	severity	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bronchoalveolar lavage cell, peripheral blood mononuclear cell (human)	PMID:21514635|REF_RGD_ID:6893376
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3021	acute kidney failure		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24958931
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:24291173|REF_RGD_ID:10412697
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23564646
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:22737924|REF_RGD_ID:10412732
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:734431	D	RGD:9068941	20260430	RGD		associated with smoking habit; DNA:SNP: :c.-1946A>G (rs35652124)	PMID:30641209|REF_RGD_ID:645238739
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:primary motor cortex, spinal cord (human)	PMID:18957896|REF_RGD_ID:6893397
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:734431	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: therapeutic	PMID:27012417
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22056419|REF_RGD_ID:10412690
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23880501|PMID:24466583|REF_RGD_ID:10412696|REF_RGD_ID:10412714
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21489257
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3602	toxic encephalopathy		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20211941
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25151357
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:19138753|REF_RGD_ID:6893396
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23570914
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:734431	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22684020|PMID:26482881|PMID:33148531
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:399	tuberculosis	treatment	ISO	RGD:734431	D	RGD:9068941	20210305	RGD		DNA:SNPs,haplotype: :rs4243387,rs2001350,rs6726395(human)	PMID:31586142|REF_RGD_ID:42722614
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:4195	hyperglycemia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20086057
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:4448	macular degeneration		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype:intron:28312647A>G (rs6726395) (human)	PMID:23276910|REF_RGD_ID:7771558
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:4448	macular degeneration		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:21559389|REF_RGD_ID:10412682
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:734431	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma	PMID:26619011
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:734431	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:734431	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:23793039|PMID:39938575
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22732220|REF_RGD_ID:10412731
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26247513
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:557	kidney disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20605904
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5844	myocardial infarction		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24915518|REF_RGD_ID:10412738
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23290949|REF_RGD_ID:10412734
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:29373037|REF_RGD_ID:26923905
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:6000	congestive heart failure		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28373008
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734431	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561517
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734431	D	RGD:9068941	20250109	RGD			PMID:31546024|REF_RGD_ID:21201310
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20404090
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23174956|REF_RGD_ID:10412711
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:83	cataract	disease_progression	ISO	RGD:734431	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:5' utr, intron:multiple (human)	PMID:20064547|REF_RGD_ID:6893326
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:850	lung disease		ISO	RGD:734431	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:39038764
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:850	lung disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		acute lung injury associated with brain injuries	PMID:19176347|REF_RGD_ID:5134977
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:8704	genital herpes	ameliorates	ISO	RGD:734432	D	RGD:9068941	20210305	RGD			PMID:31555293|REF_RGD_ID:42722615
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:decreased activity:retina	PMID:23633659|REF_RGD_ID:10412733
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:24747453|REF_RGD_ID:10412730
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000041	Fetal Weight		ISO	RGD:734431	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:35204234
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22350949|REF_RGD_ID:10412739
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22304528|REF_RGD_ID:10412722
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000918	Disease Progression		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32621833
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:25089700|REF_RGD_ID:11576302
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased expression:lung:	PMID:18787991|REF_RGD_ID:5134971
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23341968
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9001614	Chronic Tubulointerstitial Nephropathy		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:decreased localization:nucleus	PMID:23512109|REF_RGD_ID:10412728
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9001916	Fetal Death		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22288937|PMID:31952110|REF_RGD_ID:10403073|REF_RGD_ID:21201304
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:21439372|REF_RGD_ID:6893386
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20103708
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23064900|REF_RGD_ID:10412718
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19234301
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:placenta	PMID:25171874|REF_RGD_ID:26884462
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002231	Fetal Growth Retardation	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23910525|REF_RGD_ID:10412716
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20124447|PMID:23441843
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002644	Premature Aging	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:19443193|REF_RGD_ID:10412691
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29255069
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19910389
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002802	Acidoses		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29618784
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9002884	Emphysema		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20133372
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9003139	Cardiac Fibrosis	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9003386	Sunburn		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:18200051|REF_RGD_ID:6893371
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:620360	D	RGD:9068941	20230817	RGD			PMID:23528973|REF_RGD_ID:401793732
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9003996	Birth Weight		ISO	RGD:734431	D	RGD:9068941	20250306	CTD		CTD Direct Evidence: marker/mechanism	PMID:39038764
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27774770
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32682831
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24812154
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004634	Cardiac Output, Low		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30096613
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9004657	Weight Gain		ISO	RGD:734431	D	RGD:9068941	20250206	CTD		CTD Direct Evidence: marker/mechanism	PMID:35204086
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:734431	D	RGD:9068941	20231005	CTD		CTD Direct Evidence: marker/mechanism	PMID:31227482
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22072621|REF_RGD_ID:10412719
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:32105670|REF_RGD_ID:21201282
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620360	D	RGD:9068941	20200609	RGD		protein:increased localization:blood, mononuclear cell, nucleus	PMID:23331247|REF_RGD_ID:7244270
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22869588|REF_RGD_ID:10412694
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24740568|REF_RGD_ID:10412720
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005749	Necrosis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24813929
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:620360	D	RGD:9068941	20210305	RGD			PMID:26646455|REF_RGD_ID:42722616
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:734431	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:27012417|PMID:29255069
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20230128	RGD			PMID:31089916|REF_RGD_ID:155882543
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27774770
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20605904
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	ameliorates	ISO	RGD:734432	D	RGD:9068941	20230302	RGD			PMID:36044268|REF_RGD_ID:156430337
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23453443|REF_RGD_ID:10412713
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006945	Diabetic Cardiomyopathies	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23353773|REF_RGD_ID:10412721
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:734432	D	RGD:9068941	20241205	RGD			PMID:24333359|REF_RGD_ID:10412723
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:620360	D	RGD:9068941	20241205	RGD			PMID:24333359|REF_RGD_ID:10412723
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:29353218
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20722399|PMID:35523338
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22491424|PMID:22627062|PMID:24813929|PMID:26958860|PMID:30215777
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:18417483|REF_RGD_ID:6893370
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:29091898|PMID:31972209|PMID:32066295|REF_RGD_ID:15090820|REF_RGD_ID:21201280|REF_RGD_ID:21201283
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD		induced by methotrexate (CHEBI:44185), treated by ferulic acid (CHEBI:17620)	PMID:31889292|REF_RGD_ID:21201308
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	treatment	ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:29091898|PMID:31927046|REF_RGD_ID:15090820|REF_RGD_ID:21201305
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:734431	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: therapeutic	PMID:35124418
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		associated with  obesity; protein:decreased expression:hepatocyte:	PMID:32102936|REF_RGD_ID:21201281
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:734431	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007702	Carcinogenesis		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29228771
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20530669
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:24915518|REF_RGD_ID:10412738
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734431	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32621833
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:734431	D	RGD:9068941	20210312	RGD			PMID:23729024|REF_RGD_ID:42724459
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9256	colorectal cancer		ISO	RGD:734431	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12	PMID:29018201
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:22859375|REF_RGD_ID:10412740
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:620360	D	RGD:9068941	20200609	RGD			PMID:23954466|REF_RGD_ID:10412692
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:734431	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28555106
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:734432	D	RGD:9068941	20200609	RGD			PMID:22367278|REF_RGD_ID:6893372
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:18559366|REF_RGD_ID:5134973
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9970	obesity		ISO	RGD:734431	D	RGD:9068941	20200609	RGD		protein:decreased expression:hepatocyte:	PMID:32102936|REF_RGD_ID:21201281
12144170	NFE2L2	NFE2 like bZIP transcription factor 2	gene	DOID:9970	obesity		ISO	RGD:734432	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver macrophage:	PMID:32102936|REF_RGD_ID:21201281
12144182	APOA2	apolipoprotein A2	gene	DOID:1115	sarcoma		ISO	RGD:737360	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144182	APOA2	apolipoprotein A2	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:12738753|REF_RGD_ID:1300287
12144182	APOA2	apolipoprotein A2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:737360	D	RGD:7240710	20251126	OMIM			
12144182	APOA2	apolipoprotein A2	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:737360	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOA2-related condition | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:25741868
12144182	APOA2	apolipoprotein A2	gene	DOID:3393	coronary artery disease		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:17923573|REF_RGD_ID:2313956
12144182	APOA2	apolipoprotein A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737360	D	RGD:9068941	20220908	RGD		associated with hepatitis B; mRNA:increased expression:liver	PMID:31211449|REF_RGD_ID:153350082
12144182	APOA2	apolipoprotein A2	gene	DOID:7998	hyperthyroidism		ISO	RGD:2131	D	RGD:9068941	20200609	RGD			PMID:1466661|REF_RGD_ID:1599158
12144182	APOA2	apolipoprotein A2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737360	D	RGD:9068941	20200609	RGD			PMID:9829487|REF_RGD_ID:2313960
12144182	APOA2	apolipoprotein A2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:serum	PMID:11126402|REF_RGD_ID:2313958
12144182	APOA2	apolipoprotein A2	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:737360	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:12522687
12144182	APOA2	apolipoprotein A2	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:9489233|REF_RGD_ID:1601190
12144182	APOA2	apolipoprotein A2	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19817643|REF_RGD_ID:2313955
12144182	APOA2	apolipoprotein A2	gene	DOID:9006700	APOLIPOPROTEIN A-II DEFICIENCY		ISO	RGD:737360	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APOLIPOPROTEIN A-II DEFICIENCY | ClinVar Annotator: match by term: Apolipoprotein A-II deficiency	
12144182	APOA2	apolipoprotein A2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732677	D	RGD:9068941	20200609	RGD			PMID:11246886|REF_RGD_ID:2313957
12144182	APOA2	apolipoprotein A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:altered localization:plasma lipoprotein particle	PMID:9649952|REF_RGD_ID:2313961
12144182	APOA2	apolipoprotein A2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19817643|REF_RGD_ID:2313955
12144182	APOA2	apolipoprotein A2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:9578960|REF_RGD_ID:2313962
12144182	APOA2	apolipoprotein A2	gene	DOID:9970	obesity		ISO	RGD:732677	D	RGD:9068941	20200609	RGD			PMID:9933608|REF_RGD_ID:2313959
12144182	APOA2	apolipoprotein A2	gene	DOID:9970	obesity		ISO	RGD:737360	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:9002300|REF_RGD_ID:1601191
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1343459	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:32403198
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:3275	thymoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:423	myopathy		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868|PMID:32403198
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:440	neuromuscular disease		ISO	RGD:1343459	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:25741868|PMID:35869884
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868|PMID:32403198
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:9002092	Tubular Aggregate Myopathies		ISO	RGD:1343459	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Myopathy with tubular aggregates	PMID:25741868|PMID:32403198
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:7240710	20211027	OMIM			
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006229	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME		ISO	RGD:1343459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME | ClinVar Annotator: match by term: Muscular dystrophy, congenital hearing loss, and ovarian insufficiency syndrome	PMID:25741868|PMID:32403198
12144190	GGPS1	geranylgeranyl diphosphate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:1115	sarcoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:1324	lung cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1558478	D	RGD:9068941	20200609	RGD			PMID:16638826|REF_RGD_ID:1641947
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:3070	high grade glioma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:3275	thymoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1558478	D	RGD:9068941	20200609	RGD			PMID:16638826|REF_RGD_ID:1641947
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353673	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353673	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144208	MGRN1	mahogunin ring finger 1	gene	DOID:9970	obesity		ISO	RGD:1558478	D	RGD:9068941	20200609	RGD			PMID:16638826|REF_RGD_ID:1641947
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0051050	congenital disorder of glycosylation type IIv		ISO	RGD:1353394	D	RGD:7240710	20210908	OMIM			
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:0051050	congenital disorder of glycosylation type IIv		ISO	RGD:1353394	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type 2v | ClinVar Annotator: match by term: EDEM3-related disorder	PMID:25741868
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1115	sarcoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:1909	melanoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:3070	high grade glioma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353394	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:25741868
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:630	genetic disease		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1353394	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144233	EDEM3	ER degradation enhancing alpha-mannosidase like protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:0080600	COVID-19		ISO	RGD:1351605	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:10534	stomach cancer		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:1115	sarcoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:1324	lung cancer		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:1909	melanoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:3275	thymoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:1351605	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144269	CDC42BPA	CDC42 binding protein kinase alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351605	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144332	TTC24	tetratricopeptide repeat domain 24	gene	DOID:4362	cervical cancer		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144332	TTC24	tetratricopeptide repeat domain 24	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144332	TTC24	tetratricopeptide repeat domain 24	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144332	TTC24	tetratricopeptide repeat domain 24	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144344	TLCD1	TLC domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602658	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144344	TLCD1	TLC domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144352	IL3	interleukin 3	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:737391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21664615
12144352	IL3	interleukin 3	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA: SNP: : rs40401	PMID:20332709|REF_RGD_ID:5686901
12144352	IL3	interleukin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737391	D	RGD:9068941	20200609	RGD			PMID:18769539|REF_RGD_ID:5686817
12144352	IL3	interleukin 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:17934472|REF_RGD_ID:5686815
12144352	IL3	interleukin 3	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:2897	D	RGD:9068941	20200609	RGD		mRNA: increased expression: prostate	PMID:20945403|REF_RGD_ID:5684375
12144352	IL3	interleukin 3	gene	DOID:11400	pyelonephritis		ISO	RGD:2897	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:18214547|REF_RGD_ID:2317665
12144352	IL3	interleukin 3	gene	DOID:12361	Graves' disease		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA: SNP: : rs40401	PMID:20332709|REF_RGD_ID:5686901
12144352	IL3	interleukin 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:10793	D	RGD:9068941	20200609	RGD		DNA: mutations: multiple: Csf2,Il3,Ifng, strain dependent	PMID:21537082|REF_RGD_ID:5686773
12144352	IL3	interleukin 3	gene	DOID:1470	major depressive disorder		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		mRNA: increased expression: BA10: frontal cortex	PMID:20479761|REF_RGD_ID:5686897
12144352	IL3	interleukin 3	gene	DOID:1588	thrombocytopenia		ISO	RGD:737391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8202718
12144352	IL3	interleukin 3	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737391	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12144352	IL3	interleukin 3	gene	DOID:1793	pancreatic cancer		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15843207|REF_RGD_ID:2317663
12144352	IL3	interleukin 3	gene	DOID:2355	anemia		ISO	RGD:737391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12090760|PMID:8202718
12144352	IL3	interleukin 3	gene	DOID:2841	asthma	susceptibility	ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs40401(human)	PMID:24684517|REF_RGD_ID:13506914
12144352	IL3	interleukin 3	gene	DOID:2841	asthma	susceptibility	ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:+79T>C(S27P)(human)	PMID:15372320|REF_RGD_ID:13506916
12144352	IL3	interleukin 3	gene	DOID:3347	osteosarcoma		ISO	RGD:2897	D	RGD:9068941	20200609	RGD			PMID:11268282|REF_RGD_ID:2317666
12144352	IL3	interleukin 3	gene	DOID:4325	Ebola virus disease		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein: reduced expression: plasma	PMID:20957152|REF_RGD_ID:5686879
12144352	IL3	interleukin 3	gene	DOID:615	leukopenia		ISO	RGD:737391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8202718
12144352	IL3	interleukin 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA: SNPs: Multiple:  gene-gene interaction	PMID:20018070|REF_RGD_ID:5686905
12144352	IL3	interleukin 3	gene	DOID:8704	genital herpes		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		RNA: increased expression	PMID:21175248|REF_RGD_ID:5686876
12144352	IL3	interleukin 3	gene	DOID:8893	psoriasis		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein: decreased expression	PMID:19889595|REF_RGD_ID:5686909
12144352	IL3	interleukin 3	gene	DOID:9000252	Allergic Rhinoconjunctivitis	susceptibility	ISO	RGD:737391	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs40401(human)	PMID:23953855|REF_RGD_ID:13506915
12144352	IL3	interleukin 3	gene	DOID:9000998	Brain Injuries		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein: increased expression: brain: microdialysis perfusate	PMID:20717122|REF_RGD_ID:5686886
12144352	IL3	interleukin 3	gene	DOID:9000998	Brain Injuries	disease_progression	ISO	RGD:2897	D	RGD:9068941	20200609	RGD			PMID:21515263|REF_RGD_ID:5686795
12144352	IL3	interleukin 3	gene	DOID:9003369	Strongylida Infections		ISO	RGD:10793	D	RGD:9068941	20200609	RGD			PMID:20500666|REF_RGD_ID:5686890
12144352	IL3	interleukin 3	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:737391	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:8202718
12144352	IL3	interleukin 3	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12144352	IL3	interleukin 3	gene	DOID:9970	obesity		ISO	RGD:737391	D	RGD:9068941	20200609	RGD		protein: decreased expression: plasma	PMID:21203453|REF_RGD_ID:5686875
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:0061194	nephrotic syndrome type 24		ISO	RGD:1314563	D	RGD:7240710	20210414	OMIM			
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:0061194	nephrotic syndrome type 24		ISO	RGD:1314563	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DAAM2-related condition | ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 24 | ClinVar Annotator: match by term: Nephrotic syndrome, type 24	PMID:25741868|PMID:28492532|PMID:33232676
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:10534	stomach cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:11476	osteoporosis		ISO	RGD:1314563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30598549
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:1324	lung cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:1909	melanoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:3275	thymoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:630	genetic disease		ISO	RGD:1314563	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12144392	DAAM2	dishevelled associated activator of morphogenesis 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:289	endometriosis		ISO	RGD:1345615	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144428	OSR2	odd-skipped related transciption factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345615	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353238	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:1324	lung cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:1909	melanoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:41035394
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144439	BRSK1	BR serine/threonine kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22903915|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25262649|PMID:25333064|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27344577|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28944237|PMID:28968992|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30881389|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:32097363|PMID:32428919|PMID:32747562|PMID:32860223|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:35802133|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33924653|PMID:34837038|PMID:34948090|PMID:35551639|PMID:35802133|PMID:36147510|PMID:36633841|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25326637|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31836858|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36633841|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31836858|PMID:31964843|PMID:32097363|PMID:32165824|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29142287|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31035849|PMID:31054281|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31836858|PMID:31964843|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32853555|PMID:32860223|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33623043|PMID:33671976|PMID:33724713|PMID:33924653|PMID:34148116|PMID:34416374|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:36147510|PMID:36164746|PMID:36633841|PMID:36672771|PMID:36909829|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10612833|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25587757|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27145477|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27884173|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30872718|PMID:30881389|PMID:30896630|PMID:31035849|PMID:31054281|PMID:31152317|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31589614|PMID:31816670|PMID:31836858|PMID:31847883|PMID:31850270|PMID:31964843|PMID:31980526|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32747562|PMID:32795431|PMID:32853555|PMID:32860223|PMID:32864763|PMID:32981126|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33623043|PMID:33671976|PMID:33710140|PMID:33724713|PMID:33924653|PMID:33976695|PMID:34148116|PMID:34194829|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34837038|PMID:34948090|PMID:35085295|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:35982127|PMID:36011334|PMID:36147510|PMID:36164746|PMID:36240775|PMID:36460718|PMID:36484953|PMID:36633841|PMID:36672771|PMID:36909829|PMID:37466950|PMID:37811145|PMID:38189974|PMID:38219857|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10612833|PMID:10868224|PMID:10930322|PMID:12112664|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:17960123|PMID:18181211|PMID:18323324|PMID:18463160|PMID:18484607|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22681893|PMID:22690115|PMID:22785243|PMID:22898263|PMID:22903915|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23559863|PMID:23591405|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25133751|PMID:25211151|PMID:25262649|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25587757|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26469752|PMID:26486028|PMID:26561413|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26864046|PMID:26872967|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27145477|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27884173|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28731162|PMID:28944237|PMID:28968992|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29276601|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30826590|PMID:30828346|PMID:30872718|PMID:30881389|PMID:30896630|PMID:31035849|PMID:31054281|PMID:31152317|PMID:31266775|PMID:3130723|PMID:31456290|PMID:31479088|PMID:31541171|PMID:31589614|PMID:31816670|PMID:31836858|PMID:31847883|PMID:31850270|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32097363|PMID:32428919|PMID:32467589|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32747562|PMID:32795431|PMID:32853555|PMID:32860223|PMID:32864763|PMID:32981126|PMID:33089500|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33258288|PMID:33269433|PMID:33297549|PMID:33363762|PMID:33576163|PMID:33576794|PMID:33623043|PMID:33671976|PMID:33710140|PMID:33724713|PMID:33924653|PMID:33976695|PMID:34148116|PMID:34194829|PMID:34416374|PMID:3442652|PMID:34426522|PMID:34837038|PMID:3494809|PMID:34948090|PMID:35085295|PMID:35453549|PMID:35551639|PMID:35640668|PMID:35802133|PMID:35982127|PMID:36011334|PMID:36147510|PMID:36164746|PMID:36240775|PMID:36460718|PMID:36484953|PMID:36555390|PMID:36633841|PMID:36672771|PMID:36909829|PMID:37466950|PMID:37811145|PMID:38189974|PMID:38219857|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0050439	Usher syndrome		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:12786748|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:16199547|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20613545|PMID:20844544|PMID:21031134|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22681893|PMID:22898263|PMID:23237960|PMID:23383098|PMID:23451239|PMID:23559863|PMID:23770805|PMID:23770808|PMID:23804846|PMID:24033266|PMID:24105371|PMID:24194196|PMID:24199935|PMID:24831256|PMID:24875298|PMID:25080338|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25788563|PMID:26164827|PMID:26309859|PMID:26338283|PMID:26445815|PMID:26467025|PMID:26654877|PMID:26791358|PMID:26969326|PMID:27013738|PMID:27145477|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28451532|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29178603|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31054281|PMID:31341231|PMID:31389194|PMID:31479088|PMID:31486067|PMID:31589614|PMID:31964843|PMID:32097363|PMID:32531858|PMID:32747562|PMID:32783370|PMID:32884365|PMID:33089500|PMID:33111345|PMID:33297549|PMID:33502066|PMID:33576163|PMID:33623043|PMID:33724713|PMID:33946315|PMID:34148116|PMID:34387732|PMID:34416374|PMID:34837038|PMID:3494809|PMID:34948090|PMID:35453549|PMID:35640668|PMID:35672425|PMID:35802133|PMID:36011402|PMID:36147510|PMID:36240775|PMID:36460718|PMID:36515421|PMID:36555390|PMID:36633841|PMID:36909829|PMID:38189974|PMID:38378725|PMID:38594301|PMID:38927702|PMID:39806488|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9354784|PMID:9382091|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular heterotopia	PMID:17361009|PMID:25558175|PMID:25741868|PMID:28492532|PMID:33576163
12144465	MYO7A	myosin VIIA	gene	DOID:0050563	nonsyndromic deafness		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non-syndromic genetic deafness | ClinVar Annotator: match by term: Nonsyndromic hearing loss and deafness	PMID:10094549|PMID:10930322|PMID:15028842|PMID:15300860|PMID:16199547|PMID:18463160|PMID:19074810|PMID:21873662|PMID:23804846|PMID:24033266|PMID:25333064|PMID:25404053|PMID:25741868|PMID:26338283|PMID:26467025|PMID:26969326|PMID:28000701|PMID:28492532|PMID:29490346|PMID:31964843|PMID:32097363|PMID:33111345|PMID:33724713|PMID:34387732|PMID:35640668|PMID:35672425|PMID:36515421|PMID:36555390|PMID:38594301|PMID:8900236|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:732206	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness | ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:18181211|PMID:19074810|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23383098|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25798947|PMID:26791358|PMID:27460420|PMID:27957503|PMID:28492532|PMID:28944237|PMID:29692870|PMID:30303587|PMID:30718709|PMID:31389194|PMID:31479088|PMID:32531858|PMID:33187236|PMID:34148116|PMID:36147510|PMID:36909829|PMID:38594301|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10094549|PMID:10930322|PMID:17361009|PMID:18463160|PMID:21436283|PMID:22135276|PMID:24033266|PMID:25333064|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27460420|PMID:28000701|PMID:28492532|PMID:29178603|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30828346|PMID:31479088|PMID:31964843|PMID:32747562|PMID:3494809|PMID:34948090|PMID:35453549|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144465	MYO7A	myosin VIIA	gene	DOID:0060260	ptosis		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:18181211|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:0070602	autosomal dominant nonsyndromic deafness 80		ISO	RGD:732206	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 80	PMID:24033266|PMID:25741868|PMID:28492532
12144465	MYO7A	myosin VIIA	gene	DOID:0070655	Usher syndrome type 1B		ISO	RGD:732206	D	RGD:7240710	20180130	OMIM			
12144465	MYO7A	myosin VIIA	gene	DOID:0070655	Usher syndrome type 1B		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE IB | ClinVar Annotator: match by term: Usher syndrome type 1B | ClinVar Annotator: match by term: Usher syndrome type IB	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:12786748|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16283880|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17407589|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18564497|PMID:18667942|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19375528|PMID:19683999|PMID:19888295|PMID:20052763|PMID:20132242|PMID:20146813|PMID:20301442|PMID:20497194|PMID:20513143|PMID:20613545|PMID:20844544|PMID:21031134|PMID:21117948|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22681893|PMID:22690115|PMID:22898263|PMID:22903915|PMID:22952768|PMID:23148716|PMID:23208854|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451214|PMID:23451239|PMID:23591405|PMID:23770805|PMID:23770808|PMID:23804846|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24875298|PMID:24997346|PMID:25080338|PMID:25211151|PMID:25252889|PMID:25333064|PMID:25342930|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25558175|PMID:25575603|PMID:25587757|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26011067|PMID:26164827|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26346818|PMID:26445815|PMID:26467025|PMID:26486028|PMID:26561413|PMID:26791358|PMID:26864046|PMID:26969326|PMID:27013738|PMID:27068579|PMID:27145477|PMID:27160483|PMID:27208204|PMID:27344577|PMID:27440999|PMID:27460420|PMID:27573290|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27743452|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28439001|PMID:28451532|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28604982|PMID:28660889|PMID:28731162|PMID:28944237|PMID:29048421|PMID:29099798|PMID:29142287|PMID:29178603|PMID:29196752|PMID:29416772|PMID:29490346|PMID:29625443|PMID:30029497|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30390570|PMID:30459346|PMID:30531642|PMID:30718709|PMID:30733538|PMID:30881389|PMID:30896630|PMID:31035849|PMID:31054281|PMID:31152317|PMID:31160754|PMID:31250571|PMID:31266775|PMID:31341231|PMID:31456290|PMID:31479088|PMID:31486067|PMID:31541171|PMID:31589614|PMID:31816670|PMID:31847883|PMID:31850270|PMID:31964843|PMID:32097363|PMID:32467589|PMID:32531858|PMID:32581362|PMID:32747562|PMID:32783370|PMID:32795431|PMID:32853555|PMID:32860223|PMID:32884365|PMID:32981126|PMID:33089500|PMID:33090715|PMID:33105617|PMID:33111345|PMID:33187236|PMID:33229591|PMID:33258288|PMID:33297549|PMID:33502066|PMID:33528536|PMID:33576163|PMID:33576794|PMID:33608557|PMID:33671976|PMID:33691693|PMID:33724713|PMID:33749171|PMID:33835720|PMID:33924653|PMID:33946315|PMID:34148116|PMID:34194829|PMID:34230634|PMID:34387732|PMID:34391192|PMID:34416374|PMID:34515852|PMID:34795337|PMID:34948090|PMID:34979615|PMID:35163494|PMID:35640668|PMID:35672425|PMID:35761346|PMID:35802133|PMID:35982127|PMID:36011334|PMID:36164746|PMID:36240775|PMID:36284460|PMID:36284670|PMID:36460718|PMID:36515421|PMID:36555390|PMID:36597107|PMID:36633841|PMID:36729443|PMID:36909829|PMID:37108562|PMID:37204857|PMID:37217489|PMID:37217689|PMID:37466950|PMID:37544434|PMID:37798099|PMID:37811145|PMID:38178268|PMID:38189974|PMID:38219857|PMID:38378725|PMID:38465142|PMID:38594301|PMID:38711914|PMID:38884554|PMID:38927702|PMID:38987893|PMID:39462066|PMID:39560289|PMID:39629117|PMID:39767564|PMID:39967327|PMID:40257781|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9259201|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356|PMID:9843659
12144465	MYO7A	myosin VIIA	gene	DOID:0070655	Usher syndrome type 1B	treatment	ISO	RGD:732206	D	RGD:9068941	20200609	RGD			PMID:23991031|REF_RGD_ID:8694151
12144465	MYO7A	myosin VIIA	gene	DOID:0080600	COVID-19		ISO	RGD:732206	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12144465	MYO7A	myosin VIIA	gene	DOID:0110477	autosomal recessive nonsyndromic deafness 2		ISO	RGD:732206	D	RGD:7240710	20180130	OMIM			
12144465	MYO7A	myosin VIIA	gene	DOID:0110477	autosomal recessive nonsyndromic deafness 2		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 2 | ClinVar Annotator: match by term: Deafness, autosomal recessive 2 | ClinVar Annotator: match by term: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 2	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:12786748|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:16199547|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18564497|PMID:18700726|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20613545|PMID:20844544|PMID:21031134|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22681893|PMID:22898263|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451239|PMID:23770805|PMID:23804846|PMID:24033266|PMID:24194196|PMID:24199935|PMID:24831256|PMID:24875298|PMID:25080338|PMID:25342930|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:26164827|PMID:26338283|PMID:26467025|PMID:26654877|PMID:26791358|PMID:26969326|PMID:27145477|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28439001|PMID:28451532|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31054281|PMID:31250571|PMID:31266775|PMID:31341231|PMID:31389194|PMID:31479088|PMID:31486067|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32097363|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32783370|PMID:32884365|PMID:32981126|PMID:33089500|PMID:33111345|PMID:33297549|PMID:33502066|PMID:33576163|PMID:33576794|PMID:33724713|PMID:33946315|PMID:34148116|PMID:34387732|PMID:34416374|PMID:34837038|PMID:3494809|PMID:34948090|PMID:35453549|PMID:35640668|PMID:35672425|PMID:35802133|PMID:36147510|PMID:36240775|PMID:36460718|PMID:36515421|PMID:36555390|PMID:36633841|PMID:36909829|PMID:37204857|PMID:38378725|PMID:38594301|PMID:38927702|PMID:7568224|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0110498	autosomal recessive nonsyndromic deafness 4		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enlarged vestibular aqueduct syndrome	PMID:24033266|PMID:28492532
12144465	MYO7A	myosin VIIA	gene	DOID:0110520	autosomal recessive nonsyndromic deafness 7		ISO	RGD:732206	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 7	PMID:16449806|PMID:19461658|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575
12144465	MYO7A	myosin VIIA	gene	DOID:0110543	autosomal dominant nonsyndromic deafness 11		ISO	RGD:732206	D	RGD:7240710	20180130	OMIM			
12144465	MYO7A	myosin VIIA	gene	DOID:0110543	autosomal dominant nonsyndromic deafness 11		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 11 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 11	PMID:10094549|PMID:10364543|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:12786748|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15660226|PMID:16199547|PMID:16449806|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18564497|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19683999|PMID:20052763|PMID:20146813|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22681893|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451239|PMID:23770805|PMID:23804846|PMID:24033266|PMID:24105371|PMID:24199935|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25252889|PMID:25342930|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:26226137|PMID:26309859|PMID:26338283|PMID:26467025|PMID:26633542|PMID:26791358|PMID:26969326|PMID:27068579|PMID:27460420|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30828346|PMID:30881389|PMID:31250571|PMID:31266775|PMID:31341231|PMID:31389194|PMID:31479088|PMID:31816670|PMID:31964843|PMID:32097363|PMID:32467589|PMID:32531858|PMID:32681043|PMID:32884365|PMID:32981126|PMID:33089500|PMID:33111345|PMID:33502066|PMID:33576163|PMID:33724713|PMID:33946315|PMID:34387732|PMID:34416374|PMID:34652575|PMID:34837038|PMID:3494809|PMID:34948090|PMID:35453549|PMID:35640668|PMID:35672425|PMID:35802133|PMID:35853923|PMID:36147510|PMID:36460718|PMID:36515421|PMID:36555390|PMID:36633841|PMID:37204857|PMID:37727480|PMID:38378725|PMID:38594301|PMID:38927702|PMID:7870171|PMID:8900236|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:25404053|PMID:25741868|PMID:28281779|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10868224|PMID:10930322|PMID:12112664|PMID:12786748|PMID:15028842|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:15606003|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16786533|PMID:16963483|PMID:17093394|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18564497|PMID:18700726|PMID:19074810|PMID:19156839|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20146813|PMID:20613545|PMID:20844544|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21487335|PMID:21569298|PMID:21602428|PMID:21738395|PMID:21873662|PMID:21901789|PMID:22135276|PMID:22219650|PMID:22334370|PMID:22593002|PMID:22681893|PMID:22898263|PMID:23226338|PMID:23237960|PMID:23383098|PMID:23451239|PMID:23559863|PMID:23770805|PMID:23804846|PMID:23882135|PMID:23967202|PMID:24033266|PMID:24105371|PMID:24164807|PMID:24194196|PMID:24199935|PMID:24498627|PMID:24618850|PMID:24831256|PMID:24853665|PMID:24875298|PMID:25333064|PMID:25342930|PMID:25373420|PMID:25404053|PMID:25425308|PMID:25468891|PMID:25525159|PMID:25558175|PMID:25741868|PMID:25788563|PMID:26011067|PMID:26164827|PMID:26309859|PMID:26338283|PMID:26467025|PMID:26469752|PMID:26633542|PMID:26654877|PMID:26791358|PMID:26969326|PMID:27068579|PMID:27145477|PMID:27440999|PMID:27460420|PMID:27583663|PMID:27610647|PMID:27729122|PMID:27766948|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28008688|PMID:28041643|PMID:28281779|PMID:28439001|PMID:28492532|PMID:28559085|PMID:28944237|PMID:28968992|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29568747|PMID:29625443|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30733538|PMID:30828346|PMID:30881389|PMID:31250571|PMID:31266775|PMID:31341231|PMID:31389194|PMID:31429209|PMID:31479088|PMID:31486067|PMID:31589614|PMID:31816670|PMID:31964843|PMID:32097363|PMID:32098976|PMID:32428919|PMID:32467589|PMID:32531858|PMID:32747562|PMID:32783370|PMID:32884365|PMID:32981126|PMID:33089500|PMID:33111345|PMID:33187236|PMID:33297549|PMID:33502066|PMID:33576163|PMID:33691693|PMID:33724713|PMID:33924653|PMID:33946315|PMID:34148116|PMID:34387732|PMID:34416374|PMID:34828430|PMID:34837038|PMID:3494809|PMID:34948090|PMID:35453549|PMID:35640668|PMID:35672425|PMID:35802133|PMID:35836572|PMID:35853923|PMID:36147510|PMID:36240775|PMID:36460718|PMID:36515421|PMID:36555390|PMID:36633841|PMID:36909829|PMID:37204857|PMID:37466950|PMID:38219857|PMID:38378725|PMID:38594301|PMID:38884554|PMID:38927702|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9171832|PMID:9354784|PMID:9382091|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:732206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2	PMID:25741868
12144465	MYO7A	myosin VIIA	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Progressive sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:15300860|PMID:16449806|PMID:16470552|PMID:17576681|PMID:18181211|PMID:20052763|PMID:20146813|PMID:21487335|PMID:21873662|PMID:22135276|PMID:22681893|PMID:23383098|PMID:23770805|PMID:23804846|PMID:24033266|PMID:24875298|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27460420|PMID:27957503|PMID:28000701|PMID:28492532|PMID:28802369|PMID:28944237|PMID:29490346|PMID:30245029|PMID:30311386|PMID:30459346|PMID:30828346|PMID:30881389|PMID:31479088|PMID:31964843|PMID:32097363|PMID:32531858|PMID:33724713|PMID:34148116|PMID:34387732|PMID:34652575|PMID:34948090|PMID:35640668|PMID:36515421|PMID:36555390|PMID:38378725|PMID:38594301|PMID:8900236|PMID:9382091|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:10376	amblyopia		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:10534	stomach cancer		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17576681|PMID:28492532|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732206	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10094549|PMID:19074810|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27957503|PMID:28492532|PMID:30303587|PMID:30311386|PMID:30718709|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732206	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10094549|PMID:19074810|PMID:22135276|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:27957503|PMID:28492532|PMID:30311386|PMID:30718709|PMID:30828346|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:1059	intellectual disability		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:10907	microcephaly		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732206	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:16449806|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28802369|PMID:30311386|PMID:34652575|PMID:38594301
12144465	MYO7A	myosin VIIA	gene	DOID:1115	sarcoma		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144465	MYO7A	myosin VIIA	gene	DOID:11830	myopia		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18181211|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:12849	autistic disorder		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:15121790|PMID:15221449|PMID:15300860|PMID:16470552|PMID:17576681|PMID:20052763|PMID:21150918|PMID:23383098|PMID:24033266|PMID:25404053|PMID:25741868|PMID:25788563|PMID:27460420|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28492532|PMID:28944237|PMID:30459346|PMID:31479088|PMID:31964843|PMID:32531858|PMID:33502066|PMID:34948090|PMID:9354784|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:1324	lung cancer		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:26467025|PMID:28492532
12144465	MYO7A	myosin VIIA	gene	DOID:1459	hypothyroidism		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:15121790|PMID:15221449|PMID:15300860|PMID:21150918|PMID:23383098|PMID:24033266|PMID:25741868|PMID:25788563|PMID:27911912|PMID:28000701|PMID:28492532|PMID:33502066|PMID:9354784
12144465	MYO7A	myosin VIIA	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:732206	D	RGD:9068941	20240314	RGD		DNA:missense mutation:cds:c.578C>T (p.T193I)(human)	PMID:21901789|REF_RGD_ID:11537385
12144465	MYO7A	myosin VIIA	gene	DOID:1891	optic nerve disease		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:18181211|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:1909	melanoma		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16199547|PMID:25404053|PMID:27460420|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:3275	thymoma		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144465	MYO7A	myosin VIIA	gene	DOID:3426	vestibular disease		ISO	RGD:732207	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:multiple (mouse)	PMID:9680294|REF_RGD_ID:4892285
12144465	MYO7A	myosin VIIA	gene	DOID:4189	mutism		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25404053|PMID:25741868|PMID:28281779|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:4362	cervical cancer		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144465	MYO7A	myosin VIIA	gene	DOID:5041	esophageal cancer		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144465	MYO7A	myosin VIIA	gene	DOID:540	strabismus		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17361009|PMID:25558175|PMID:25741868|PMID:28492532|PMID:33576163
12144465	MYO7A	myosin VIIA	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:732206	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4	PMID:21436283|PMID:23208854|PMID:23383098|PMID:24033266|PMID:25587757|PMID:25741868|PMID:26486028|PMID:26969326|PMID:27068579|PMID:27160483|PMID:28000701|PMID:28492532|PMID:30245029|PMID:31152317|PMID:31589614|PMID:31964843|PMID:32795431
12144465	MYO7A	myosin VIIA	gene	DOID:5723	optic atrophy		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24033266|PMID:25741868|PMID:28492532
12144465	MYO7A	myosin VIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144465	MYO7A	myosin VIIA	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144465	MYO7A	myosin VIIA	gene	DOID:630	genetic disease		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15300860|PMID:16470552|PMID:17576681|PMID:20052763|PMID:23804846|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:26969326|PMID:27460420|PMID:27957503|PMID:28492532|PMID:28944237|PMID:30311386|PMID:30459346|PMID:31479088|PMID:31964843|PMID:32097363|PMID:32531858|PMID:33724713|PMID:33946315|PMID:34387732|PMID:34515852|PMID:34948090|PMID:35640668|PMID:35802133|PMID:35982127|PMID:36515421|PMID:36555390|PMID:36633841|PMID:38594301|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:674	cleft palate		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144465	MYO7A	myosin VIIA	gene	DOID:8501	fundus dystrophy		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10612833|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15221449|PMID:15660226|PMID:15823922|PMID:16199547|PMID:16400615|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:17576681|PMID:18181211|PMID:18463160|PMID:18484607|PMID:18564497|PMID:19074810|PMID:19299023|PMID:19683999|PMID:20052763|PMID:20513143|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22135279|PMID:23383098|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24199935|PMID:25333064|PMID:25404053|PMID:25468891|PMID:25472526|PMID:25525159|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26226137|PMID:26338283|PMID:26467025|PMID:26469752|PMID:26561413|PMID:26791358|PMID:26872967|PMID:26969326|PMID:27068579|PMID:27208204|PMID:27460420|PMID:27583663|PMID:27743452|PMID:27957503|PMID:28000701|PMID:28041643|PMID:28472130|PMID:28492532|PMID:28559085|PMID:28944237|PMID:29099798|PMID:29178603|PMID:29416772|PMID:29490346|PMID:29889784|PMID:30054919|PMID:30303587|PMID:30311386|PMID:30358468|PMID:30459346|PMID:30828346|PMID:31250571|PMID:31266775|PMID:31479088|PMID:31589614|PMID:31816670|PMID:31836858|PMID:31850270|PMID:31963381|PMID:31964843|PMID:31980526|PMID:32467589|PMID:32483926|PMID:32531858|PMID:32581362|PMID:32747562|PMID:32783370|PMID:32856788|PMID:32864763|PMID:32981126|PMID:33089500|PMID:33297549|PMID:33576163|PMID:33576794|PMID:33710140|PMID:33976695|PMID:34148116|PMID:34426522|PMID:3494809|PMID:34948090|PMID:35440622|PMID:35453549|PMID:35551639|PMID:36460718|PMID:38219857|PMID:7870171|PMID:8900236|PMID:9002678|PMID:9354784|PMID:9536098|PMID:9718356
12144465	MYO7A	myosin VIIA	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12144465	MYO7A	myosin VIIA	gene	DOID:9000343	Vision Disorders		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:18181211|PMID:22135276|PMID:24033266|PMID:25404053|PMID:25741868|PMID:26467025|PMID:28281779|PMID:28492532|PMID:30311386|PMID:30828346|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:9001031	Retrognathia		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:17361009|PMID:25558175|PMID:25741868|PMID:28492532|PMID:33576163
12144465	MYO7A	myosin VIIA	gene	DOID:9001733	Tinnitus		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18181211|PMID:20146813|PMID:21487335|PMID:22135276|PMID:22681893|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26467025|PMID:27460420|PMID:28000701|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30311386|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:732206	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
12144465	MYO7A	myosin VIIA	gene	DOID:9002189	High Myopia		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:9002563	Gait Ataxia		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25404053|PMID:25741868|PMID:28281779|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:15121790|PMID:15221449|PMID:15300860|PMID:21150918|PMID:23383098|PMID:24033266|PMID:25741868|PMID:25788563|PMID:27911912|PMID:28000701|PMID:28492532|PMID:33502066|PMID:9354784
12144465	MYO7A	myosin VIIA	gene	DOID:9003133	Hypertelorism		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12144465	MYO7A	myosin VIIA	gene	DOID:9003539	Hyperacusis		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:18181211|PMID:22135276|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:27460420|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:9004538	Hearing Loss		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing impairment | ClinVar Annotator: match by term: hearing loss	PMID:10094549|PMID:10425080|PMID:10447383|PMID:10930322|PMID:12112664|PMID:15043528|PMID:15121790|PMID:15221449|PMID:15300860|PMID:16199547|PMID:16470552|PMID:16652077|PMID:16679490|PMID:16963483|PMID:17361009|PMID:18181211|PMID:18463160|PMID:19074810|PMID:21150918|PMID:21311020|PMID:21436283|PMID:21569298|PMID:21873662|PMID:22135276|PMID:22898263|PMID:23237960|PMID:23383098|PMID:23451239|PMID:23591405|PMID:23770805|PMID:24033266|PMID:24194196|PMID:24831256|PMID:24875298|PMID:25333064|PMID:25404053|PMID:25468891|PMID:25558175|PMID:25741868|PMID:25788563|PMID:25798947|PMID:26467025|PMID:26791358|PMID:26969326|PMID:27460420|PMID:27610647|PMID:27911912|PMID:27957503|PMID:28000701|PMID:28281779|PMID:28492532|PMID:28944237|PMID:29178603|PMID:29490346|PMID:29692870|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30337596|PMID:30358468|PMID:30459346|PMID:30718709|PMID:30828346|PMID:30881389|PMID:31389194|PMID:31479088|PMID:31964843|PMID:32531858|PMID:33187236|PMID:33502066|PMID:33576163|PMID:34148116|PMID:3494809|PMID:34948090|PMID:35453549|PMID:36147510|PMID:36555390|PMID:36909829|PMID:38378725|PMID:38594301|PMID:8900236|PMID:9354784|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868
12144465	MYO7A	myosin VIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144465	MYO7A	myosin VIIA	gene	DOID:9007114	Mobility Limitation		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25404053|PMID:25741868|PMID:28281779|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:15121790|PMID:15221449|PMID:15300860|PMID:21150918|PMID:23383098|PMID:24033266|PMID:25741868|PMID:25788563|PMID:27911912|PMID:28000701|PMID:28492532|PMID:33502066|PMID:9354784
12144465	MYO7A	myosin VIIA	gene	DOID:9007661	Dwarfism		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:30303587
12144465	MYO7A	myosin VIIA	gene	DOID:9007736	Vertigo		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:18181211|PMID:20146813|PMID:21487335|PMID:22135276|PMID:22681893|PMID:23770805|PMID:24033266|PMID:24875298|PMID:25741868|PMID:27460420|PMID:28000701|PMID:28492532|PMID:29490346|PMID:30245029|PMID:30881389|PMID:38378725|PMID:9382091
12144465	MYO7A	myosin VIIA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:16470552|PMID:17576681|PMID:18181211|PMID:20052763|PMID:21873662|PMID:23383098|PMID:23770805|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27460420|PMID:27957503|PMID:28492532|PMID:28944237|PMID:30303587|PMID:30459346|PMID:31479088|PMID:31964843|PMID:32531858|PMID:34148116|PMID:34948090|PMID:8900236|PMID:9536098
12144465	MYO7A	myosin VIIA	gene	DOID:9008681	Deafness		ISO	RGD:732206	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:22135276|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30303587|PMID:33187236|PMID:36147510
12144465	MYO7A	myosin VIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:26467025|PMID:28492532
12144465	MYO7A	myosin VIIA	gene	DOID:9649	congenital nystagmus		ISO	RGD:732206	D	RGD:9068941	20200609	RGD		associated with Leber Congenital Amaurosis;DNA:missense mutation:cds:c.578C>T (p.T193I)(human)	PMID:21901789|REF_RGD_ID:11537385
12144465	MYO7A	myosin VIIA	gene	DOID:9650	pathologic nystagmus		ISO	RGD:732206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25404053|PMID:25741868|PMID:28281779|PMID:28492532|PMID:8900236
12144465	MYO7A	myosin VIIA	gene	DOID:9849	Meniere's disease		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Meniere disease | ClinVar Annotator: match by term: Ménière's disease	PMID:15606003|PMID:19299023|PMID:20146813|PMID:21487335|PMID:22681893|PMID:24033266|PMID:25741868|PMID:28000701|PMID:28008688|PMID:28492532|PMID:30311386
12144465	MYO7A	myosin VIIA	gene	DOID:9970	obesity		ISO	RGD:732206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:16470552|PMID:17576681|PMID:20052763|PMID:24033266|PMID:25404053|PMID:25741868|PMID:27460420|PMID:27957503|PMID:28492532|PMID:28944237|PMID:30459346|PMID:31479088|PMID:31964843|PMID:32531858|PMID:34948090|PMID:9536098
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:1324	lung cancer		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:1909	melanoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:3070	high grade glioma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:3275	thymoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606004	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144529	AADAT	aminoadipate aminotransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606004	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144550	SRRD	SRR1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144550	SRRD	SRR1 domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144550	SRRD	SRR1 domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12144550	SRRD	SRR1 domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144550	SRRD	SRR1 domain containing	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144550	SRRD	SRR1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144550	SRRD	SRR1 domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144550	SRRD	SRR1 domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144559	HDAC7	histone deacetylase 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:10534	stomach cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144559	HDAC7	histone deacetylase 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144559	HDAC7	histone deacetylase 7	gene	DOID:1115	sarcoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:12858	Huntington's disease		ISO	RGD:1552552	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain:	PMID:21118817|REF_RGD_ID:9681718
12144559	HDAC7	histone deacetylase 7	gene	DOID:1324	lung cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144559	HDAC7	histone deacetylase 7	gene	DOID:4362	cervical cancer		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144559	HDAC7	histone deacetylase 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1349346	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144559	HDAC7	histone deacetylase 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349346	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144559	HDAC7	histone deacetylase 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144559	HDAC7	histone deacetylase 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144559	HDAC7	histone deacetylase 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1349346	D	RGD:9068941	20260709	RGD		mRNA:increased expression:colon:	PMID:23724067|REF_RGD_ID:9590193
12144559	HDAC7	histone deacetylase 7	gene	DOID:986	alopecia areata		ISO	RGD:1349346	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:mononuclear cell:	PMID:21936853|REF_RGD_ID:9587460
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:1064	cystinosis		ISO	RGD:1323183	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephropathic cystinosis	PMID:25741868
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:1115	sarcoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:1909	melanoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:3275	thymoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323183	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1323183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323183	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144599	SLC66A1	solute carrier family 66 member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0050865	tongue squamous cell carcinoma	severity	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:19691460|REF_RGD_ID:126781771
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:14595263|REF_RGD_ID:126781770
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0051061	stroke		ISO	RGD:620486	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:15694257|REF_RGD_ID:2289956
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0060074	ductal carcinoma in situ	disease_progression	ISO	RGD:732538	D	RGD:9068941	20200609	RGD			PMID:15788662|REF_RGD_ID:2289981
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0060201	amyotrophic lateral sclerosis type 10		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 10	PMID:25741868
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0060210	amyotrophic lateral sclerosis type 19		ISO	RGD:732538	D	RGD:7240710	20180130	OMIM			
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0060210	amyotrophic lateral sclerosis type 19		ISO	RGD:732538	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 19 | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 19 | ClinVar Annotator: match by term: ERBB4-related condition	PMID:17576681|PMID:25741868|PMID:27640074|PMID:28492532|PMID:28889094|PMID:29895397|PMID:32579787|PMID:33589474|PMID:35426263|PMID:35896380|PMID:37223130|PMID:9536098
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732538	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:10283	prostate cancer		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:17922460|REF_RGD_ID:2289978
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:10376	amblyopia		ISO	RGD:620486	D	RGD:9068941	20240411	RGD		protein:decreased expression, decreased phosphorylation:visual cortex	PMID:34273906|REF_RGD_ID:405649729
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:10534	stomach cancer		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1059	intellectual disability		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732538	D	RGD:9068941	20200609	RGD			PMID:16685269|REF_RGD_ID:2298502
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732538	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18006009|REF_RGD_ID:2289943
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:12849	autistic disorder		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:13949	interstitial cystitis	disease_progression	ISO	RGD:620486	D	RGD:9068941	20240411	RGD			PMID:30989724|REF_RGD_ID:405295490
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1824	status epilepticus		ISO	RGD:620486	D	RGD:9068941	20241114	RGD		protein:increased phosphorylation:hippocampus	PMID:22158510|REF_RGD_ID:10449024
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1826	epilepsy		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:1909	melanoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:2394	ovarian cancer		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder	PMID:16469638|REF_RGD_ID:2289980
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:14614020|REF_RGD_ID:2298506
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:2876	laryngeal squamous cell carcinoma	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:22549618|REF_RGD_ID:126790474
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:3307	teratoma		ISO	RGD:732538	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:3312	bipolar disorder		ISO	RGD:620486	D	RGD:9068941	20240504	RGD			PMID:34189720|REF_RGD_ID:405650687
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532|PMID:28889094
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD		protein:altered localization:nucleus	PMID:18000820|REF_RGD_ID:126781765
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:3748	esophagus squamous cell carcinoma	susceptibility	ISO	RGD:732538	D	RGD:9068941	20210423	RGD		DNA:SNPs, haplotypes: :rs1595066 and rs16845990 (human)	PMID:24916311|REF_RGD_ID:126781764
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:26824984|REF_RGD_ID:126790475
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:4306	radiculopathy		ISO	RGD:620486	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:17401154|REF_RGD_ID:2289993
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:4362	cervical cancer		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney	PMID:15360049|REF_RGD_ID:2289987
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:732538	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5419	schizophrenia		ISO	RGD:732538	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5517	stomach carcinoma	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:21709195|REF_RGD_ID:126781768
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5520	head and neck squamous cell carcinoma	severity	ISO	RGD:732538	D	RGD:9068941	20210423	RGD			PMID:20604875|REF_RGD_ID:126790467
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:571	median neuropathy		ISO	RGD:620486	D	RGD:9068941	20210423	RGD			PMID:18845940|PMID:19296522|REF_RGD_ID:10449020|REF_RGD_ID:126790486
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1551357	D	RGD:9068941	20200609	RGD			PMID:14555954|REF_RGD_ID:734941
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:620486	D	RGD:9068941	20240418	RGD			PMID:26892146|REF_RGD_ID:11522702
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:6000	congestive heart failure		ISO	RGD:620486	D	RGD:9068941	20200609	RGD		associated with Aortic Valve Stenosis;mRNA, protein:decreased expression:heart myocardium	PMID:10421602|REF_RGD_ID:1580989
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532|PMID:28889094
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25954003|PMID:27618451|PMID:28490743|PMID:28492532
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24997986
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:732538	D	RGD:9068941	20210423	RGD		associated with oral squamous cell carcinoma	PMID:27444519|REF_RGD_ID:126781762
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD		associated with lung non-small cell carcinoma	PMID:21324275|REF_RGD_ID:126790471
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000081	Lymphatic Metastasis	severity	ISO	RGD:732538	D	RGD:9068941	20210423	RGD		associated with colorectal adenocarcinoma	PMID:16507107|REF_RGD_ID:126781766
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:732538	D	RGD:9068941	20220421	RGD			PMID:28756200|REF_RGD_ID:151893490
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:732538	D	RGD:9068941	20210423	RGD		associated with lung adenocarcinoma	PMID:26254096|REF_RGD_ID:126790470
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9001131	stress-related disorder		ISO	RGD:620486	D	RGD:9068941	20240425	RGD		protein:increased phosphorylation:myocardium	PMID:27133902|REF_RGD_ID:405650400
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:620486	D	RGD:9068941	20240411	RGD		associated with interstitial cystitis;	PMID:30989724|REF_RGD_ID:405295490
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9002514	Neointima		ISO	RGD:620486	D	RGD:9068941	20200609	RGD			PMID:17438359|REF_RGD_ID:2289992
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary	PMID:18575766|REF_RGD_ID:2298499
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:17465227|REF_RGD_ID:2289947
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9004240	Phyllodes Tumor	disease_progression	ISO	RGD:732538	D	RGD:9068941	20200609	RGD			PMID:11206334|REF_RGD_ID:2289951
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:732538	D	RGD:9068941	20200609	RGD			PMID:16962163|REF_RGD_ID:2289950
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19718025
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	RGD			PMID:17203220|REF_RGD_ID:2289979
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:620486	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA:decreased expresssion:left ventricle myocardium	PMID:22285193|REF_RGD_ID:10449013
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1551357	D	RGD:9068941	20241114	RGD			PMID:22158510|REF_RGD_ID:10449024
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9007090	Experimental Seizures		ISO	RGD:620486	D	RGD:9068941	20241114	RGD		protein:increased phosphorylation:hippocampus	PMID:22158510|REF_RGD_ID:10449024
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:10537356|REF_RGD_ID:2298505
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9008350	NATURAL KILLER CELL ENTEROPATHY		ISO	RGD:732538	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Natural killer cell enteropathy	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732538	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast	PMID:17465220|REF_RGD_ID:2289949
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:732538	D	RGD:9068941	20200609	RGD		DNA:amplification	PMID:18182100|REF_RGD_ID:2289942
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9008939	Breast Neoplasms	susceptibility	ISO	RGD:732538	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-782G>T (human)	PMID:18094435|REF_RGD_ID:2289977
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732538	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9255	frontotemporal dementia		ISO	RGD:732538	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:28492532|PMID:35873773
12144612	ERBB4	erb-b2 receptor tyrosine kinase 4	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:732538	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-782G>T (human)	PMID:18094435|REF_RGD_ID:2289977
12144652	DTD1	D-aminoacyl-tRNA deacylase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144652	DTD1	D-aminoacyl-tRNA deacylase 1	gene	DOID:1909	melanoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144652	DTD1	D-aminoacyl-tRNA deacylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323478	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144671	C15H1orf122	chromosome 15 C1orf122 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144671	C15H1orf122	chromosome 15 C1orf122 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144671	C15H1orf122	chromosome 15 C1orf122 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144681	TDRP	testis development related protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144687	SRSF10	serine and arginine rich splicing factor 10	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1322327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12144687	SRSF10	serine and arginine rich splicing factor 10	gene	DOID:4362	cervical cancer		ISO	RGD:1322327	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144687	SRSF10	serine and arginine rich splicing factor 10	gene	DOID:4448	macular degeneration		ISO	RGD:1322327	D	RGD:9068941	20200609	RGD		protein:increased expression:retina (human)	PMID:24098751|REF_RGD_ID:11038792
12144687	SRSF10	serine and arginine rich splicing factor 10	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1322327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21072693
12144687	SRSF10	serine and arginine rich splicing factor 10	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322327	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21072693
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2305665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:1115	sarcoma		ISO	RGD:2305665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:4990	essential tremor		ISO	RGD:2305665	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: essential tremor	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:5041	esophageal cancer		ISO	RGD:2305665	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2305665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2305665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144726	FAM228B	family with sequence similarity 228, member B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2305665	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12144770	AKAP14	A-kinase anchoring protein 14	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12144770	AKAP14	A-kinase anchoring protein 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0050331	lacrimoauriculodentodigital syndrome 1		ISO	RGD:734330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: LADD syndrome 1	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:734330	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0081370	LADD syndrome		ISO	RGD:734330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Levy-Hollister syndrome	PMID:17213838|PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0081372	lacrimoauriculodentodigital syndrome 3		ISO	RGD:734330	D	RGD:7240710	20230125	OMIM			
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0081372	lacrimoauriculodentodigital syndrome 3		ISO	RGD:734330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LADD SYNDROME 3 | ClinVar Annotator: match by term: Lacrimoauriculodentodigital syndrome 3	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0111549	aplasia of lacrimal and salivary glands		ISO	RGD:734330	D	RGD:7240710	20180130	OMIM			
12144801	FGF10	fibroblast growth factor 10	gene	DOID:0111549	aplasia of lacrimal and salivary glands		ISO	RGD:734330	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: APLASIA OF LACRIMAL AND SALIVARY GLANDS | ClinVar Annotator: match by term: FGF10-related condition	PMID:15654336|PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:10486	intestinal atresia		ISO	RGD:10578	D	RGD:9068941	20220825	MouseDO			
12144801	FGF10	fibroblast growth factor 10	gene	DOID:10533	viral pneumonia	treatment	ISO	RGD:10578	D	RGD:9068941	20210611	RGD			PMID:27322618|REF_RGD_ID:127284849
12144801	FGF10	fibroblast growth factor 10	gene	DOID:10787	premature menopause	treatment	ISO	RGD:10578	D	RGD:9068941	20210528	RGD			PMID:27679811|REF_RGD_ID:126928135
12144801	FGF10	fibroblast growth factor 10	gene	DOID:10892	hypospadias		ISO	RGD:2606	D	RGD:9068941	20200609	RGD			PMID:19464577|REF_RGD_ID:2314151
12144801	FGF10	fibroblast growth factor 10	gene	DOID:10907	microcephaly		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:3082	interstitial lung disease		ISO	RGD:734330	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease specific to childhood	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:3178	skin papilloma		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		protein:increased expression:skin (mouse)	PMID:24582960|REF_RGD_ID:126928134
12144801	FGF10	fibroblast growth factor 10	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:734330	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12144801	FGF10	fibroblast growth factor 10	gene	DOID:630	genetic disease		ISO	RGD:734330	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17213838|PMID:25741868|PMID:28492532
12144801	FGF10	fibroblast growth factor 10	gene	DOID:674	cleft palate		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
12144801	FGF10	fibroblast growth factor 10	gene	DOID:8927	learning disability		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:2606	D	RGD:9068941	20210625	RGD			PMID:11952999|REF_RGD_ID:127284874
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in mouse model	PMID:10381813|REF_RGD_ID:126928132
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in mouse model with bacterial delivery system	PMID:19736360|REF_RGD_ID:126928133
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:734330	D	RGD:9068941	20210611	RGD		human gene product in mouse model	PMID:23676805|REF_RGD_ID:127284855
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000656	Penetrating Wounds	treatment	ISO	RGD:734330	D	RGD:9068941	20210528	RGD		human protein in rat model	PMID:10417753|REF_RGD_ID:126928129
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:10578	D	RGD:9068941	20210611	RGD		mRNA:decreased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743467
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9002488	Peritoneal Fibrosis		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		mRNA:decreased expression:peritoneum (mouse)	PMID:31431501|REF_RGD_ID:126928131
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9002488	Peritoneal Fibrosis	treatment	ISO	RGD:10578	D	RGD:9068941	20210528	RGD		miR-145 inhibitor	PMID:31431501|REF_RGD_ID:126928131
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2606	D	RGD:9068941	20200609	RGD		mRNA:increased expression:mammary gland	PMID:18421211|REF_RGD_ID:2292665
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9005736	Pallor		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pallor	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9007661	Dwarfism		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438407
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9296	cleft lip		ISO	RGD:734330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
12144801	FGF10	fibroblast growth factor 10	gene	DOID:9884	muscular dystrophy		ISO	RGD:734330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12144801	Fgf10	fibroblast growth factor 10	gene	DOID:10533	viral pneumonia		ISO	RGD:10578	D	RGD:9068941	20210611	RGD		protein:increased expression:epithelial stem/progenitor cells (mouse)	PMID:27322618|REF_RGD_ID:127284849
12144801	Fgf10	fibroblast growth factor 10	gene	DOID:3151	skin squamous cell carcinoma		ISO	RGD:10578	D	RGD:9068941	20210528	RGD		Pten conditional KO mouse	PMID:24582960|REF_RGD_ID:126928134
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4		ISO	RGD:1604986	D	RGD:7240710	20180130	OMIM			
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:0110062	amelogenesis imperfecta hypomaturation type 2A4		ISO	RGD:1604986	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4 | ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4	PMID:22901946|PMID:25741868
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:2394	ovarian cancer		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144810	ODAPH	odontogenesis associated phosphoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604986	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144815	TMEM220	transmembrane protein 220	gene	DOID:1115	sarcoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144815	TMEM220	transmembrane protein 220	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144825	ELOF1	elongation factor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144825	ELOF1	elongation factor 1	gene	DOID:1324	lung cancer		ISO	RGD:1601839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12144825	ELOF1	elongation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144825	ELOF1	elongation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:21698055|REF_RGD_ID:6482785
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16213192|REF_RGD_ID:7248790
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0051061	stroke		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19644070|REF_RGD_ID:6482786
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:22112193|REF_RGD_ID:6482771
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:0080379	nephrotic syndrome type 2	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:9853251|REF_RGD_ID:7248793
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma	PMID:8692015|REF_RGD_ID:7257517
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:15292677|REF_RGD_ID:7248795
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:12554	hemolytic-uremic syndrome	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Escherichia coli Infections; DNA:transversion mutation: :994 G>T (human)	PMID:10873870|REF_RGD_ID:7257516
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:13001	carotid stenosis	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22075154|REF_RGD_ID:6482772
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:1307	dementia		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16278861|REF_RGD_ID:6482779
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, type 2;DNA:missense mutation: :994G>T(human)	PMID:12590019|REF_RGD_ID:7248796
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:1936	atherosclerosis		ISO	RGD:1321811	D	RGD:9068941	20200609	RGD			PMID:21970837|REF_RGD_ID:6482784
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:2377	multiple sclerosis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22246459|REF_RGD_ID:6482783
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:9068941	20231109	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:2841	asthma		ISO	RGD:1321810	D	RGD:9068941	20231109	RGD			PMID:10733466|REF_RGD_ID:1581025
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:2921	glomerulonephritis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:8730430|REF_RGD_ID:7248794
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:2986	IgA glomerulonephritis	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:	PMID:12220450|REF_RGD_ID:7257515
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:17070179|REF_RGD_ID:6482777
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A379V (human)	PMID:15115767|REF_RGD_ID:6482781
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:3407	carotid artery disease	severity	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22499993|REF_RGD_ID:6482769
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:3526	cerebral infarction		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:18201705|REF_RGD_ID:6482775
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:4362	cervical cancer		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:576	proteinuria		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:mutation: :994G>T(human)	PMID:10430976|REF_RGD_ID:7248792
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:19644070|REF_RGD_ID:6482786
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:6000	congestive heart failure		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:16952920|REF_RGD_ID:6482778
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8675689
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:17326817|REF_RGD_ID:6482776
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:11807372|REF_RGD_ID:1581024
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:783	end stage renal disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		plasma:increased expression:plasma	PMID:16421163|REF_RGD_ID:7248787
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:7240710	20231004	OMIM			
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9000204	Platelet-Activating Factor Acetylhydrolase Deficiency		ISO	RGD:1321810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PLA2G7-related condition | ClinVar Annotator: match by term: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY | ClinVar Annotator: match by term: Platelet-activating factor acetylhydrolase deficiency	PMID:10733466|PMID:25741868|PMID:28406212
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21356620
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9000528	Coronary Disease		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:15699277|REF_RGD_ID:6482780
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9001686	Acute Coronary Syndrome	disease_progression	ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22024276|REF_RGD_ID:6482773
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:1321810	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10733466
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9005372	Inflammation		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		associated with Cerebral Infarction;protein:increased expression:serum	PMID:19886071|REF_RGD_ID:6482774
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9005930	Endotoxemia		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:10748027|REF_RGD_ID:7248791
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds, intron:multiple	PMID:22340269|REF_RGD_ID:6482770
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1310734	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21172452|REF_RGD_ID:6482748
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144916	PLA2G7	phospholipase A2 group VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1321810	D	RGD:9068941	20200609	RGD			PMID:22399516|REF_RGD_ID:6482782
12144948	LMNB1	lamin B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144948	LMNB1	lamin B1	gene	DOID:0051015	adult onset demyelinating leukodystrophy		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adult-onset autosomal dominant demyelinating leukodystrophy	PMID:25741868|PMID:28492532
12144948	LMNB1	lamin B1	gene	DOID:0051037	autosomal dominant primary microcephaly 26		ISO	RGD:733220	D	RGD:7240710	20210303	OMIM			
12144948	LMNB1	lamin B1	gene	DOID:0051037	autosomal dominant primary microcephaly 26		ISO	RGD:733220	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: LMNB1-related primary microcephaly | ClinVar Annotator: match by term: MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Microcephaly 26, primary, autosomal dominant	PMID:25741868|PMID:32910914|PMID:33033404
12144948	LMNB1	lamin B1	gene	DOID:0060785	typical adult-onset autosomal dominant demyelinating leukodystrophy		ISO	RGD:733220	D	RGD:8554872	20250204	ClinVar		ClinVar Annotator: match by term: LMNB1-related condition | ClinVar Annotator: match by term: Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical | ClinVar Annotator: match by term: Syndrome with microcephaly as major feature	PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404
12144948	LMNB1	lamin B1	gene	DOID:0070297	primary microcephaly		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868|PMID:32910914|PMID:33033404
12144948	LMNB1	lamin B1	gene	DOID:0080600	COVID-19		ISO	RGD:733220	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12144948	LMNB1	lamin B1	gene	DOID:10534	stomach cancer		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144948	LMNB1	lamin B1	gene	DOID:10907	microcephaly		ISO	RGD:733220	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12144948	LMNB1	lamin B1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144948	LMNB1	lamin B1	gene	DOID:1909	melanoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144948	LMNB1	lamin B1	gene	DOID:3275	thymoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144948	LMNB1	lamin B1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:733220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12144948	LMNB1	lamin B1	gene	DOID:4362	cervical cancer		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144948	LMNB1	lamin B1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12144948	LMNB1	lamin B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144948	LMNB1	lamin B1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144948	LMNB1	lamin B1	gene	DOID:630	genetic disease		ISO	RGD:733220	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32910914|PMID:33033404
12144948	LMNB1	lamin B1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:733220	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12144948	LMNB1	lamin B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144948	LMNB1	lamin B1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:733220	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12144948	LMNB1	lamin B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144948	LMNB1	lamin B1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities		ISO	RGD:735480	D	RGD:7240710	20230505	OMIM			
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:0081444	neurodevelopmental disorder with poor growth and behavioral abnormalities		ISO	RGD:735480	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth and behavioral abnormalities	PMID:25741868|PMID:34379057|PMID:36604604|PMID:40226306
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:10534	stomach cancer		ISO	RGD:735480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:1059	intellectual disability		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:1115	sarcoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:12849	autistic disorder		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:1826	epilepsy		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:1909	melanoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:3275	thymoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:735480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:630	genetic disease		ISO	RGD:735480	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12144980	ATP9A	ATPase phospholipid transporting 9A (putative)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1606523	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:3070	high grade glioma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:3275	thymoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:4362	cervical cancer		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145017	ZNF512B	zinc finger protein 512B	gene	DOID:9256	colorectal cancer		ISO	RGD:1606523	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:0080600	COVID-19		ISO	RGD:1604148	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:3275	thymoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145051	FRRS1	ferric chelate reductase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604148	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145077	TMEM150C	transmembrane protein 150C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145077	TMEM150C	transmembrane protein 150C	gene	DOID:1909	melanoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145077	TMEM150C	transmembrane protein 150C	gene	DOID:3275	thymoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145077	TMEM150C	transmembrane protein 150C	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12145077	TMEM150C	transmembrane protein 150C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3564030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145094	ZNF582	zinc finger protein 582	gene	DOID:1115	sarcoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145094	ZNF582	zinc finger protein 582	gene	DOID:1324	lung cancer		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145094	ZNF582	zinc finger protein 582	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145094	ZNF582	zinc finger protein 582	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12145094	ZNF582	zinc finger protein 582	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353424	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:0081337	congenital myopathy		ISO	RGD:737137	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:0111599	distal arthrogryposis type 2B		ISO	RGD:737137	D	RGD:9068941	20260521	RGD		DNA:missense mutation:cds;p.Arg63His(human)	PMID:12865991|REF_RGD_ID:1599490
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:0111600	distal arthrogryposis type 2B1		ISO	RGD:737137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal arthrogryposis type 2B1	PMID:25741868|PMID:28492532
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:0111601	distal arthrogryposis type 2B2		ISO	RGD:737137	D	RGD:7240710	20200228	OMIM			
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:0111601	distal arthrogryposis type 2B2		ISO	RGD:737137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 2B2 | ClinVar Annotator: match by term: TNNT3-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145140	TNNT3	troponin T3, fast skeletal type	gene	DOID:630	genetic disease		ISO	RGD:737137	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:28492532|PMID:33977145
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:1324	lung cancer		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:4362	cervical cancer		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:5041	esophageal cancer		ISO	RGD:1345565	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145175	TUT1	terminal uridylyl transferase 1, U6 snRNA-specific	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:10534	stomach cancer		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:1115	sarcoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:1324	lung cancer		ISO	RGD:1354114	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:1612	breast cancer		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:1909	melanoma		ISO	RGD:1354114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842|PMID:22842228
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:4362	cervical cancer		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:5041	esophageal cancer		ISO	RGD:1354114	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354114	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145188	PTPRK	protein tyrosine phosphatase receptor type K	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354114	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145238	DAZAP2	DAZ associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145238	DAZAP2	DAZ associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145238	DAZAP2	DAZ associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145238	DAZAP2	DAZ associated protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12145238	DAZAP2	DAZ associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316588	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145251	ZNF483	zinc finger protein 483	gene	DOID:10534	stomach cancer		ISO	RGD:1604223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145251	ZNF483	zinc finger protein 483	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145264	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	gene	DOID:1909	melanoma		ISO	RGD:1603316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145264	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12145264	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145264	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145264	DNPH1	2'-deoxynucleoside 5'-phosphate N-hydrolase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1603316	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1348460	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145274	DCLK2	doublecortin like kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:3275	thymoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9004657	Weight Gain		ISO	RGD:732975	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12145313	SORBS2	sorbin and SH3 domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145391	CD6	CD6 molecule	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145391	CD6	CD6 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145391	CD6	CD6 molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145391	CD6	CD6 molecule	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145391	CD6	CD6 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351600	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525953|PMID:24076602
12145391	CD6	CD6 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1351600	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145391	CD6	CD6 molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145391	CD6	CD6 molecule	gene	DOID:6039	uveal melanoma		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12145391	CD6	CD6 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145391	CD6	CD6 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0050562	West syndrome		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasmus nutans	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0050581	brachydactyly		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0050840	cervical dystonia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344111	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0060260	ptosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1623858	D	RGD:9068941	20260611	MouseDO			
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1344111	D	RGD:7240710	20180130	OMIM			
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0070031	autosomal dominant intellectual developmental disorder 1		ISO	RGD:1344111	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 1 | ClinVar Annotator: match by term: MBD5-related condition	PMID:16199547|PMID:17576681|PMID:17847001|PMID:19809484|PMID:19904302|PMID:23055267|PMID:23422940|PMID:23587880|PMID:23632792|PMID:24885232|PMID:25640679|PMID:25741868|PMID:26467025|PMID:28008202|PMID:28074849|PMID:28454995|PMID:28492532|PMID:29655203|PMID:31440721|PMID:31820818|PMID:32193494|PMID:32238909|PMID:33057194|PMID:33912662|PMID:35385942|PMID:35982159|PMID:9536098
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:1344111	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 31A	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:10534	stomach cancer		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:17847001|PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456|PMID:32193494|PMID:34459404|PMID:35982159
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1059	intellectual disability		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:30763456|PMID:34459404|PMID:35982159
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:10591	pre-eclampsia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Preeclampsia	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:10608	celiac disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Celiac disease	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:10907	microcephaly		ISO	RGD:1344111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1115	sarcoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:12128	pica disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:12849	autistic disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:25741868|PMID:28492532|PMID:30208311
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1826	epilepsy		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1891	optic nerve disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:1909	melanoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:2030	anxiety disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Trigonocephaly	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:4188	echolalia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:535	sleep disorder		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disorder	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:5419	schizophrenia		ISO	RGD:1344111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:630	genetic disease		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17847001|PMID:23422940|PMID:23587880|PMID:25741868|PMID:26467025|PMID:28492532|PMID:33912662
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:8445	intestinal volvulus		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Volvulus	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9000343	Vision Disorders		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:28492532
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344111	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:16199547|PMID:23422940|PMID:23587880|PMID:25741868|PMID:28492532|PMID:31820818
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: hypotonia	PMID:25741868
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9007402	Gliosis		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344111	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	
12145417	MBD5	methyl-CpG binding domain protein 5	gene	DOID:9649	congenital nystagmus		ISO	RGD:1344111	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital nystagmus	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:0060058	lymphoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:1115	sarcoma		ISO	RGD:1354229	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:1552173	D	RGD:9068941	20200609	RGD			PMID:16675724|REF_RGD_ID:1601111
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:3275	thymoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1354229	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :41A>G, 734C>T, IVS4-57_58ins48bp	PMID:16195894|REF_RGD_ID:1601112
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1552173	D	RGD:9068941	20200609	RGD			PMID:11100118|REF_RGD_ID:1556516
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:9006646	Metabolic Syndrome	susceptibility	ISO	RGD:1354229	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:14557872|REF_RGD_ID:1581921
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:7240710	20180130	OMIM			
12145444	ACAT2	acetyl-CoA acetyltransferase 2	gene	DOID:9007685	Cytosolic Acetoacetyl-CoA Thiolase Deficiency		ISO	RGD:1354229	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acetyl-CoA acetyltransferase-2 deficiency	PMID:25741868
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:10534	stomach cancer		ISO	RGD:1349362	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:1324	lung cancer		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:4362	cervical cancer		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:9000046	Poisoning		ISO	RGD:1349362	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20036648
12145457	LOC484867	cytochrome P450 4F3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349362	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145529	RCN2	reticulocalbin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145529	RCN2	reticulocalbin 2	gene	DOID:10534	stomach cancer		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145529	RCN2	reticulocalbin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145529	RCN2	reticulocalbin 2	gene	DOID:1115	sarcoma		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145529	RCN2	reticulocalbin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733014	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145529	RCN2	reticulocalbin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145529	RCN2	reticulocalbin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733014	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12145529	RCN2	reticulocalbin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145529	RCN2	reticulocalbin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733014	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1354086	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:2843	long QT syndrome		ISO	RGD:1354086	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:4362	cervical cancer		ISO	RGD:1354086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1354086	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inherited primary ovarian failure	PMID:25741868|PMID:31003867|PMID:34257419
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1354086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	PMID:25741868
12145542	ANKRD31	ankyrin repeat domain 31	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145576	NTM	neurotrimin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603310	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145576	NTM	neurotrimin	gene	DOID:1070	primary open angle glaucoma	susceptibility	ISO	RGD:1603310	D	RGD:9068941	20250109	RGD		DNA:SNP::rs7481514(human)	PMID:22661486|REF_RGD_ID:596948406
12145576	NTM	neurotrimin	gene	DOID:10763	hypertension	treatment	ISO	RGD:1603310	D	RGD:9068941	20250109	RGD		DNA:SNPs: :rs2511774, rs139945292, rs80175218	PMID:34231218|REF_RGD_ID:596948394
12145576	NTM	neurotrimin	gene	DOID:1115	sarcoma		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145576	NTM	neurotrimin	gene	DOID:13223	uterine fibroid	treatment	ISO	RGD:1603310	D	RGD:9068941	20250109	RGD			PMID:32033718|REF_RGD_ID:596948395
12145576	NTM	neurotrimin	gene	DOID:2152	ovary epithelial cancer		ISO	RGD:1603310	D	RGD:9068941	20250109	RGD		mRNA:increased expression:ovary	PMID:16115914|REF_RGD_ID:596948413
12145576	NTM	neurotrimin	gene	DOID:5041	esophageal cancer		ISO	RGD:1603310	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145576	NTM	neurotrimin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145576	NTM	neurotrimin	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:1603310	D	RGD:9068941	20250109	RGD			PMID:26312848|REF_RGD_ID:596948398
12145576	NTM	neurotrimin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145576	NTM	neurotrimin	gene	DOID:65	connective tissue disease		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
12145576	NTM	neurotrimin	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1603310	D	RGD:9068941	20250109	RGD		associated with hypertension;	PMID:25819087|REF_RGD_ID:596948401
12145576	NTM	neurotrimin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions	susceptibility	ISO	RGD:1603310	D	RGD:9068941	20250109	RGD		associated with hypertension;DNA:SNPs: :rs2511774, rs139945292, rs80175218	PMID:34231218|REF_RGD_ID:596948394
12145576	NTM	neurotrimin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145576	NTM	neurotrimin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145576	NTM	neurotrimin	gene	DOID:9256	colorectal cancer		ISO	RGD:1603310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12145611	UBQLN4	ubiquilin 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12145611	UBQLN4	ubiquilin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145611	UBQLN4	ubiquilin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145611	UBQLN4	ubiquilin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:10608	celiac disease		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352981	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:620267	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733175	D	RGD:9068941	20200609	RGD		mRNA:increased expression:urinary bladder	PMID:17970044|REF_RGD_ID:2316906
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352981	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:820	myocarditis		ISO	RGD:1352981	D	RGD:9068941	20200609	RGD			PMID:19151078|REF_RGD_ID:2316903
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:9000058	Keloid		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:8709084	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:mucosa of middle ear	PMID:26711468|REF_RGD_ID:11553828
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:620267	D	RGD:9068941	20200609	RGD			PMID:8343166|REF_RGD_ID:633930
12145626	S100A9	S100 calcium binding protein A9	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1352981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12145642	SGPP1	sphingosine-1-phosphate phosphatase 1	gene	DOID:1324	lung cancer		ISO	RGD:1343984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145642	SGPP1	sphingosine-1-phosphate phosphatase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145642	SGPP1	sphingosine-1-phosphate phosphatase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145649	ARR3	arrestin 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145649	ARR3	arrestin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145649	ARR3	arrestin 3	gene	DOID:4362	cervical cancer		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145649	ARR3	arrestin 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1350252	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145649	ARR3	arrestin 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12145649	ARR3	arrestin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145649	ARR3	arrestin 3	gene	DOID:630	genetic disease		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12145649	ARR3	arrestin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145649	ARR3	arrestin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145649	ARR3	arrestin 3	gene	DOID:9009093	Myopia 26, X-Linked, Female-Limited		ISO	RGD:1350252	D	RGD:7240710	20190315	OMIM			
12145649	ARR3	arrestin 3	gene	DOID:9009093	Myopia 26, X-Linked, Female-Limited		ISO	RGD:1350252	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARR3-related condition | ClinVar Annotator: match by term: MYOPIA 26, X-LINKED, FEMALE-LIMITED | ClinVar Annotator: match by term: Myopia 26, X-linked, female-limited	PMID:25741868|PMID:28492532|PMID:35001458
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:10534	stomach cancer		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:1115	sarcoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1606810	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9007433	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES		ISO	RGD:1606810	D	RGD:7240710	20190918	OMIM			
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9007433	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES		ISO	RGD:1606810	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES | ClinVar Annotator: match by term: Intellectual developmental disorder with short stature and variable skeletal anomalies | ClinVar Annotator: match by term: WIPI2-related condition	PMID:25741868|PMID:28492532
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145678	WIPI2	WD repeat domain, phosphoinositide interacting 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606810	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145710	DDN	dendrin	gene	DOID:4362	cervical cancer		ISO	RGD:1345220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145710	DDN	dendrin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1605547	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145729	UBALD2	UBA like domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605547	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145735	RWDD1	RWD domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145735	RWDD1	RWD domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145735	RWDD1	RWD domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145735	RWDD1	RWD domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145735	RWDD1	RWD domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12145735	RWDD1	RWD domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145735	RWDD1	RWD domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145735	RWDD1	RWD domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145735	RWDD1	RWD domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145735	RWDD1	RWD domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1603624	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Septo-optic dysplasia sequence	PMID:25741868
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1059	intellectual disability		ISO	RGD:1603624	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1324	lung cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:1909	melanoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1603624	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:4362	cervical cancer		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5041	esophageal cancer		ISO	RGD:1603624	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9002189	High Myopia		ISO	RGD:1603624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:32853829
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1603624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9008582	Developmental Disease		ISO	RGD:1603624	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12145756	RALGAPB	Ral GTPase activating protein non-catalytic subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603624	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145810	NEUROD4	neuronal differentiation 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321332	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25811541
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD		rat gene in human cells in a mouse model	PMID:19344900|REF_RGD_ID:401960096
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a mouse model	PMID:12586736|PMID:14568901|REF_RGD_ID:401959585|REF_RGD_ID:401960079
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0050860	colorectal adenoma	susceptibility	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		DNA:repeats:promoter:	PMID:16537708|REF_RGD_ID:151347835
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:736622	D	RGD:9068941	20220204	RGD		mRNA,protein:decreased expression:mouth mucosa (human)	PMID:30532780|REF_RGD_ID:151347832
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736622	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:0080491	cerebral cavernous malformation 1	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		DNA:silent mutation:CDS:p.L256L (rs5628) (human)	PMID:26795600|REF_RGD_ID:401960081
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10534	stomach cancer		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:3438	D	RGD:9068941	20240201	RGD		mRNA:increased expression:aortic endothelial cell (rat)	PMID:18056786|REF_RGD_ID:401960082
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:736622	D	RGD:9068941	20200609	RGD			PMID:12372404|REF_RGD_ID:1298040
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10763	hypertension		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:repeat:promoter:g.-6(CCGCCAGCC)3-4 (human)	PMID:10577996|REF_RGD_ID:401959586
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNP:exon 8:g.1117C>A (rs6095558) (human)	PMID:17070428|REF_RGD_ID:401959383
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10825	essential hypertension		ISO	RGD:736622	D	RGD:7240710	20180130	OMIM			
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:10825	essential hypertension		ISO	RGD:736622	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Essential hypertension | ClinVar Annotator: match by term: HYPERTENSION, ESSENTIAL	PMID:25741868
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:1115	sarcoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:13001	carotid stenosis		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		associated with cerebral infarction;DNA:SNP:3' utr: (rs5602) (human)	PMID:28704403|REF_RGD_ID:401959402
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19336370
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:13832	patent ductus arteriosus	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNP, haplotype:intron: (rs493694) (human)	PMID:19336370|REF_RGD_ID:401959325
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a rat model	PMID:23691265|REF_RGD_ID:401959749
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP, missense mutations:intron 4, CDS:c.521+1G>A, p.R252Q (c.755G>A), p.A447T (c.1339G>A) (, rs759344518, rs146531327) (human)	PMID:32236489|REF_RGD_ID:401901150
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:1909	melanoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:1936	atherosclerosis		ISO	RGD:736622	D	RGD:9068941	20240125	RGD		mRNA:decreased expression:artery (human)	PMID:22112851|REF_RGD_ID:401959395
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:219	colon cancer	exacerbates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:27834752|REF_RGD_ID:401960086
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:2316	brain ischemia		ISO	RGD:3438	D	RGD:9068941	20200609	RGD			PMID:16094316|REF_RGD_ID:8693629
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP, haplotype:3' utr: (rs5602) (human)	PMID:28478978|REF_RGD_ID:401901149
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction		ISO	RGD:736622	D	RGD:9068941	20231207	RGD		DNA:repeat:promoter:g.-6(CCGCCAGCC)3-7 (human)	PMID:11130769|REF_RGD_ID:401901269
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human)	PMID:28108096|REF_RGD_ID:401959400
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:3438	D	RGD:9068941	20231207	RGD			PMID:11997284|REF_RGD_ID:401901194
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		protein:decreased expression:lung (human)	PMID:16314486|REF_RGD_ID:151347842
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736622	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP::1117C>A (human)	PMID:19040046|PMID:19327107|REF_RGD_ID:401901147|REF_RGD_ID:401901155
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction		ISO	RGD:736622	D	RGD:9068941	20231207	RGD		DNA:silent mutation:exon 8:1117C>A (human)	PMID:12040339|REF_RGD_ID:401901268
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:736622	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS: (rs5629) (human)	PMID:19046748|REF_RGD_ID:2313891
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:27802898|REF_RGD_ID:401960097
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension		ISO	RGD:736622	D	RGD:9068941	20240201	RGD		protein:decreased expression:pulmonary artery (human)	PMID:32673988|REF_RGD_ID:401960100
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	susceptibility	ISO	RGD:3438	D	RGD:9068941	20200609	RGD		rat gene in a mouse model	PMID:10359560|REF_RGD_ID:727270
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:3438	D	RGD:9068941	20231130	RGD			PMID:15684702|REF_RGD_ID:1580695
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		human gene in a rat model	PMID:12019369|REF_RGD_ID:401959405
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:8283	peritonitis	ameliorates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:736622	D	RGD:9068941	20220204	RGD		associated with colorectal cancer; protein:increased expression:colorectum (human)	PMID:22109564|REF_RGD_ID:151347833
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9001048	Nociceptive Pain	ameliorates	ISO	RGD:11183	D	RGD:9068941	20220204	RGD			PMID:26611322|REF_RGD_ID:11536046
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	susceptibility	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		DNA:repeat, SNPs:promoter, intron: , 185C>T, 325C>A ( , rs5582, rs116939356) (human)	PMID:24605778|REF_RGD_ID:401959406
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:3438	D	RGD:9068941	20231207	RGD			PMID:18612919|REF_RGD_ID:401901264
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9001820	Pulmonary Arterial Hypertension	treatment	ISO	RGD:736622	D	RGD:9068941	20240201	RGD		human gene in a rat model	PMID:11034952|PMID:17635855|PMID:23841984|REF_RGD_ID:401901195|REF_RGD_ID:401959335|REF_RGD_ID:401959742
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736622	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11830527
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:8888351|REF_RGD_ID:401960094
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:11076704|REF_RGD_ID:401960076
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced	treatment	ISO	RGD:3438	D	RGD:9068941	20240125	RGD			PMID:12062720|REF_RGD_ID:401959327
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:3438	D	RGD:9068941	20240201	RGD			PMID:10073980|PMID:10536678|PMID:17303142|REF_RGD_ID:401959382|REF_RGD_ID:401959739|REF_RGD_ID:401960092
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:736622	D	RGD:9068941	20231207	RGD		human gene in a rat model	PMID:9933282|REF_RGD_ID:401901254
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:11183	D	RGD:9068941	20240201	RGD		mRNA:increased expression:kidney (mouse)	PMID:30413885|REF_RGD_ID:401959745
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006474	Arterial Occlusive Diseases	exacerbates	ISO	RGD:736622	D	RGD:9068941	20240125	RGD		associated with cerebral infarction;DNA:SNPs:exon, 3' utr: (rs5629, rs5602) (human)	PMID:28108096|REF_RGD_ID:401959400
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:736622	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3438	D	RGD:9068941	20240201	RGD		protein:decreased activity:aorta (rat)	PMID:16528409|REF_RGD_ID:401960098
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736622	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12145821	PTGIS	prostaglandin I2 synthase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736622	D	RGD:9068941	20231130	RGD		protein:decreased expression:hypodermis (human)	PMID:24225501|REF_RGD_ID:401901153
12145927	DUSP3	dual specificity phosphatase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145927	DUSP3	dual specificity phosphatase 3	gene	DOID:1324	lung cancer		ISO	RGD:1345861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145927	DUSP3	dual specificity phosphatase 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1345861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15496427
12145927	DUSP3	dual specificity phosphatase 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345861	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12145927	DUSP3	dual specificity phosphatase 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2	PMID:38922859
12145944	MFN2	mitofusin 2	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30649465|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31315766|PMID:31453851|PMID:31664033|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9333264|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35938991|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:28902413|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31108397|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:35994048|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33187793|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37797217|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32657593|PMID:32963807|PMID:33187793|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37797217|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10508514|PMID:10732809|PMID:11241840|PMID:12601114|PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17940179|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20819609|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25533962|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27506976|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27859025|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29068134|PMID:29215088|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32245838|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32657593|PMID:32963807|PMID:33110000|PMID:33187793|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:33879512|PMID:34060689|PMID:34103343|PMID:34190362|PMID:34193129|PMID:34232518|PMID:34255403|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35531120|PMID:35922214|PMID:35936615|PMID:35938991|PMID:35994048|PMID:36790232|PMID:36964972|PMID:36973604|PMID:37091313|PMID:37273706|PMID:37712079|PMID:37797217|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:39140136|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:31127728|PMID:31130284|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:39825153|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:31130284|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31664033|PMID:31701603|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2	PMID:10732809|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21892769|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23800155|PMID:24033266|PMID:24053775|PMID:24078732|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26316991|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:29266326|PMID:2926664|PMID:29358271|PMID:29473246|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30659145|PMID:30724636|PMID:30807887|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31589614|PMID:31640251|PMID:31664033|PMID:31701603|PMID:31827005|PMID:31832804|PMID:31980526|PMID:32376792|PMID:32397312|PMID:32483926|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34114234|PMID:34190362|PMID:34255403|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35468369|PMID:35641312|PMID:35922214|PMID:35994048|PMID:36098092|PMID:36964972|PMID:37091313|PMID:37712079|PMID:37747677|PMID:37910431|PMID:38887266|PMID:39140136|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth, Type 2 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy, Okinawa type	PMID:15064763|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17215403|PMID:17296794|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18490623|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20350294|PMID:20418531|PMID:20819609|PMID:20951041|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21647385|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21892769|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22492563|PMID:22556188|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23147504|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23800155|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25640679|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26365381|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28492532|PMID:28660751|PMID:28810241|PMID:29215088|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29858556|PMID:30210586|PMID:30442897|PMID:30564185|PMID:30606759|PMID:30642740|PMID:30649465|PMID:30724636|PMID:30807887|PMID:31130284|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31453851|PMID:31664033|PMID:31701603|PMID:31827005|PMID:31832804|PMID:32376792|PMID:32397312|PMID:32963807|PMID:33110000|PMID:33415332|PMID:33475540|PMID:33841295|PMID:34190362|PMID:34255403|PMID:34721278|PMID:35177962|PMID:35922214|PMID:35994048|PMID:36964972|PMID:37712079|PMID:37747677|PMID:37910431|PMID:39140136|PMID:42236346|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:11588784|RGD:11589361|RGD:11591891|RGD:11646201|RGD:11647522|RGD:11649564|RGD:11652452|RGD:11653109|RGD:11654458|RGD:11665778|RGD:11666301	D	RGD:9068941	20260813	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	
12145944	MFN2	mitofusin 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:11588784|RGD:11589361|RGD:11591891|RGD:11646201|RGD:11647522|RGD:11649564|RGD:11653109|RGD:11654458	D	RGD:9068941	20260813	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4 | ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	
12145944	MFN2	mitofusin 2	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:11652452|RGD:11665778|RGD:11666301	D	RGD:9068941	20260813	ClinVar		ClinVar Annotator: match by term: Hereditary motor and sensory neuropathy	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:18458227|PMID:20008656|PMID:20350294|PMID:20482598|PMID:22492563|PMID:24033266|PMID:24126688|PMID:25025039|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26686600|PMID:28251916|PMID:28414270|PMID:28492532|PMID:2926664|PMID:29358271|PMID:30158064|PMID:31589614|PMID:31980526|PMID:33415332|PMID:33502018|PMID:34114234|PMID:34426522|PMID:35468369|PMID:35641312|PMID:37091313|PMID:38887266
12145944	MFN2	mitofusin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:0050951	hereditary ataxia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:0060058	lymphoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12145944	MFN2	mitofusin 2	gene	DOID:0060249	scoliosis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:16762064|PMID:16835246|PMID:19889647|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24473995|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:28251916|PMID:28492532|PMID:29674596|PMID:30649465|PMID:31664033
12145944	MFN2	mitofusin 2	gene	DOID:0080068	Charcot-Marie-Tooth disease type 6		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 6 | ClinVar Annotator: match by term: PERIPHERAL NEUROPATHY AND OPTIC ATROPHY	PMID:16043786|PMID:16762064|PMID:16835246|PMID:18458227|PMID:18957892|PMID:19889647|PMID:21576112|PMID:21715711|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25741868|PMID:26085578|PMID:26114802|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27582484|PMID:28251916|PMID:28492532|PMID:29625556|PMID:29674596|PMID:29858556|PMID:30649465|PMID:31372974|PMID:31664033|PMID:31701603|PMID:33415332|PMID:33475540
12145944	MFN2	mitofusin 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:26401075|REF_RGD_ID:13204743
12145944	MFN2	mitofusin 2	gene	DOID:0080734	Ehlers-Danlos syndrome kyphoscoliotic type 1		ISO	RGD:11665778|RGD:11666301	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, hydroxylysine-deficient | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, kyphoscoliotic type 1	
12145944	MFN2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:7240710	20190703	OMIM			
12145944	MFN2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:10508514|PMID:10732809|PMID:11241840|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23806086|PMID:24033266|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25533962|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32657593|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34193129|PMID:34354735|PMID:34366782|PMID:34426522|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35936615|PMID:35938991|PMID:36790232|PMID:37091313|PMID:37712079|PMID:37797217|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:0110155	Charcot-Marie-Tooth disease type 2A2A		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A	PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17444508|PMID:18996695|PMID:19618221|PMID:19889647|PMID:20008656|PMID:21258814|PMID:21326314|PMID:21576112|PMID:21707411|PMID:22492563|PMID:22851605|PMID:22926664|PMID:23800155|PMID:24053775|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24863639|PMID:24957169|PMID:25741868|PMID:25850958|PMID:26306937|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27582484|PMID:27862672|PMID:28251916|PMID:28492532|PMID:28660751|PMID:29674596|PMID:30442897|PMID:30649465|PMID:31130284|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31827005|PMID:32376792|PMID:33415332|PMID:35922214
12145944	MFN2	mitofusin 2	gene	DOID:0110197	Charcot-Marie-Tooth disease dominant intermediate B		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate B	PMID:18316077|PMID:18425620|PMID:18946002|PMID:18957892|PMID:20008656|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24088041|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:28492532|PMID:28660751|PMID:35177962
12145944	MFN2	mitofusin 2	gene	DOID:0111557	Charcot-Marie-Tooth disease type 2A2B		ISO	RGD:732569	D	RGD:7240710	20190315	OMIM			
12145944	MFN2	mitofusin 2	gene	DOID:0111557	Charcot-Marie-Tooth disease type 2A2B		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2A2B | ClinVar Annotator: match by term: Severe early-onset axonal neuropathy due to MFN2 deficiency	PMID:16043786|PMID:16714318|PMID:16835246|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:21258814|PMID:21326314|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22492563|PMID:23800155|PMID:24088041|PMID:24450158|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:25850958|PMID:26114802|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26930221|PMID:26968897|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28660751|PMID:29625556|PMID:29858556|PMID:30442897|PMID:31372974|PMID:31701603|PMID:31827005|PMID:32376792|PMID:32657593|PMID:33415332|PMID:33475540|PMID:34193129|PMID:35177962|PMID:35922214|PMID:35936615|PMID:37797217
12145944	MFN2	mitofusin 2	gene	DOID:10534	stomach cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28166811|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31211173|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29898954|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:32376792|PMID:32963807|PMID:33415332|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24450158|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30442897|PMID:30882371|PMID:31188717|PMID:31453851|PMID:31673878|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33415332|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21735565|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32963807|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34721278|PMID:35418194|PMID:35922214|PMID:35938991|PMID:37091313|PMID:37712079|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Hereditary areflexic dystasia	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32963807|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35938991|PMID:36790232|PMID:36973604|PMID:37091313|PMID:37712079|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease | ClinVar Annotator: match by term: Peroneal muscular atrophy	PMID:10508514|PMID:10732809|PMID:11148244|PMID:11241840|PMID:12601114|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17502546|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:198122151|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22653593|PMID:22762946|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23615052|PMID:23733358|PMID:23781337|PMID:23806086|PMID:23929728|PMID:24033266|PMID:24050734|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24604904|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25412673|PMID:25448007|PMID:25497598|PMID:25533962|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26230519|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26764160|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27706887|PMID:27862672|PMID:27863451|PMID:27884173|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28292286|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30011089|PMID:30158064|PMID:30340945|PMID:30373780|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30807887|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31372974|PMID:31407473|PMID:31453851|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32380161|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33578441|PMID:33841295|PMID:34060689|PMID:34103343|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35922214|PMID:35938991|PMID:36790232|PMID:36973604|PMID:37091313|PMID:37273706|PMID:37712079|PMID:37910431|PMID:37926714|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:12527753|PMID:15064763|PMID:15549395|PMID:16043786|PMID:16199547|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17309650|PMID:17444508|PMID:17502546|PMID:17576681|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20193559|PMID:20335458|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21892769|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22653593|PMID:22762946|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23800155|PMID:23929728|PMID:24053775|PMID:24078732|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24487800|PMID:24530046|PMID:24627108|PMID:24803844|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25850958|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26581383|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26916081|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:27863451|PMID:28492532|PMID:28660751|PMID:29625556|PMID:29858556|PMID:29898954|PMID:30442897|PMID:30807887|PMID:31130284|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31701603|PMID:31827005|PMID:32376792|PMID:32397312|PMID:32522799|PMID:32963807|PMID:33110000|PMID:33415332|PMID:33475540|PMID:33578441|PMID:34060689|PMID:34232518|PMID:34366782|PMID:34721278|PMID:35177962|PMID:35922214|PMID:36229071|PMID:37712079|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:28302704|REF_RGD_ID:12910737
12145944	MFN2	mitofusin 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732569	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus (human)	PMID:19605646|REF_RGD_ID:7800727
12145944	MFN2	mitofusin 2	gene	DOID:10763	hypertension		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (rat)	PMID:25464244|REF_RGD_ID:13204764
12145944	MFN2	mitofusin 2	gene	DOID:10763	hypertension	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27847271|REF_RGD_ID:12910764
12145944	MFN2	mitofusin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145944	MFN2	mitofusin 2	gene	DOID:1115	sarcoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:11716	prediabetes syndrome		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle (rat)	PMID:27521417|REF_RGD_ID:12910830
12145944	MFN2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
12145944	MFN2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:10508514|PMID:11241840|PMID:15064763|PMID:15549395|PMID:16437557|PMID:16714318|PMID:16835246|PMID:17215403|PMID:17296794|PMID:19889647|PMID:20418531|PMID:21285398|PMID:21508331|PMID:22442078|PMID:24126688|PMID:24604904|PMID:24862862|PMID:24863639|PMID:25025039|PMID:25403865|PMID:25533962|PMID:25741868|PMID:26085578|PMID:26382835|PMID:26467025|PMID:26686600|PMID:26801520|PMID:27549087|PMID:27863451|PMID:28492532|PMID:31130284|PMID:31188717|PMID:31832804|PMID:32376792|PMID:32963807|PMID:33110000|PMID:33475540|PMID:33841295|PMID:34366782|PMID:35938991
12145944	MFN2	mitofusin 2	gene	DOID:11720	distal myopathy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:15549395|PMID:24444136|PMID:25403865|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32963807|PMID:33110000|PMID:33415332
12145944	MFN2	mitofusin 2	gene	DOID:11830	myopia		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732570	D	RGD:9068941	20200609	RGD		with Mfn1 knockout	PMID:22052916|REF_RGD_ID:11251967
12145944	MFN2	mitofusin 2	gene	DOID:13001	carotid stenosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:15322553|REF_RGD_ID:1304351
12145944	MFN2	mitofusin 2	gene	DOID:1324	lung cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:14116	multiple symmetric lipomatosis		ISO	RGD:732569	D	RGD:7240710	20230607	OMIM			
12145944	MFN2	mitofusin 2	gene	DOID:14116	multiple symmetric lipomatosis		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Madelung's disease | ClinVar Annotator: match by term: Multiple symmetric lipomatosis	PMID:16714318|PMID:21258814|PMID:22492563|PMID:23800155|PMID:24863639|PMID:25741868|PMID:25850958|PMID:26306937|PMID:26392352|PMID:26467025|PMID:26686600|PMID:26752306|PMID:26930221|PMID:26968897|PMID:27862672|PMID:28492532|PMID:28660751|PMID:30442897|PMID:31827005|PMID:32376792|PMID:35922214
12145944	MFN2	mitofusin 2	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:732569	D	RGD:9068941	20230520	RGD		protein:decreased expression:vastus lateralis	PMID:23972212|REF_RGD_ID:329812002
12145944	MFN2	mitofusin 2	gene	DOID:1596	depressive disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:22244747|REF_RGD_ID:13204844
12145944	MFN2	mitofusin 2	gene	DOID:17	musculoskeletal system disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:21326314|PMID:24450158|PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:1909	melanoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:1969	cerebral palsy		ISO	RGD:732569	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:2030	anxiety disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain (rat)	PMID:25147362|REF_RGD_ID:13204807
12145944	MFN2	mitofusin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:2491	sensory peripheral neuropathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensory neuropathy	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:3275	thymoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:3312	bipolar disorder		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:732569	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22975021
12145944	MFN2	mitofusin 2	gene	DOID:3770	pulmonary fibrosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24912636|REF_RGD_ID:13204824
12145944	MFN2	mitofusin 2	gene	DOID:4362	cervical cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:480	movement disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:732569	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:5723	optic atrophy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:20886221|REF_RGD_ID:12738232
12145944	MFN2	mitofusin 2	gene	DOID:6039	uveal melanoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:630	genetic disease		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12527753|PMID:16043786|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17444508|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19618221|PMID:19889647|PMID:20008656|PMID:21258814|PMID:21326314|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:22492563|PMID:22851605|PMID:22926664|PMID:22957060|PMID:23456260|PMID:23800155|PMID:24088041|PMID:24450158|PMID:24473995|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25614874|PMID:25741868|PMID:25850958|PMID:26085578|PMID:26114802|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:28251916|PMID:28492532|PMID:28660751|PMID:29215088|PMID:29453956|PMID:29625556|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30442897|PMID:30649465|PMID:31130284|PMID:31372974|PMID:31664033|PMID:31701603|PMID:31827005|PMID:32376792|PMID:32397312|PMID:33415332|PMID:33475540|PMID:35177962|PMID:35922214|PMID:36229071|PMID:37910431|PMID:39140136|PMID:42236346
12145944	MFN2	mitofusin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber optic atrophy	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Axonal neuropathy	PMID:15549395|PMID:24444136|PMID:25403865|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32963807|PMID:33110000|PMID:33415332
12145944	MFN2	mitofusin 2	gene	DOID:767	muscular atrophy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:18316077|PMID:18425620|PMID:18946002|PMID:18957892|PMID:20008656|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24088041|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:28492532|PMID:28660751|PMID:35177962
12145944	MFN2	mitofusin 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31589614|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:870	neuropathy		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:16714318|PMID:16835246|PMID:21715711|PMID:23781337|PMID:25741868|PMID:26955893|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;mRNA, protein:decreased expression:retina (rat)	PMID:28487236|REF_RGD_ID:12910715
12145944	MFN2	mitofusin 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (rat)	PMID:26079325|REF_RGD_ID:12437066
12145944	MFN2	mitofusin 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:28404953|REF_RGD_ID:12910735
12145944	MFN2	mitofusin 2	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:striatum (rat)	PMID:28232070|REF_RGD_ID:12910738
12145944	MFN2	mitofusin 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:25369251|REF_RGD_ID:13204798
12145944	MFN2	mitofusin 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:26882442|REF_RGD_ID:12910839
12145944	MFN2	mitofusin 2	gene	DOID:9001890	Auditory Neuropathy		ISO	RGD:732569	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Auditory neuropathy	
12145944	MFN2	mitofusin 2	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:24898700|REF_RGD_ID:13204829
12145944	MFN2	mitofusin 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27363631|REF_RGD_ID:12910833
12145944	MFN2	mitofusin 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27997345
12145944	MFN2	mitofusin 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:26123583|PMID:27997345|REF_RGD_ID:11053290|REF_RGD_ID:12910740
12145944	MFN2	mitofusin 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:spinal cord (rat)	PMID:28587902|REF_RGD_ID:12910704
12145944	MFN2	mitofusin 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28587902
12145944	MFN2	mitofusin 2	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart (rat)	PMID:26692091|REF_RGD_ID:11557238
12145944	MFN2	mitofusin 2	gene	DOID:9003507	Premature Birth		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		associated with Hypertension:protein:decreased expression:heart (rat)	PMID:27085127|REF_RGD_ID:12910835
12145944	MFN2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17499311
12145944	MFN2	mitofusin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:732570	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:heart (mouse)	PMID:27565029|REF_RGD_ID:12910768
12145944	MFN2	mitofusin 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27847271|REF_RGD_ID:12910764
12145944	MFN2	mitofusin 2	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:732570	D	RGD:9068941	20200609	RGD			PMID:28503736|REF_RGD_ID:12910714
12145944	MFN2	mitofusin 2	gene	DOID:9004484	Sepsis		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:24720571|REF_RGD_ID:13204837
12145944	MFN2	mitofusin 2	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:732569	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: HMSN IIA2	PMID:10732809|PMID:11148244|PMID:12601114|PMID:15064763|PMID:15136675|PMID:15297672|PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:16930284|PMID:17215402|PMID:17215403|PMID:17296794|PMID:17309650|PMID:17437620|PMID:17444508|PMID:17576681|PMID:17959936|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18602827|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19350291|PMID:19618221|PMID:19812251|PMID:19889647|PMID:20008656|PMID:20301684|PMID:20335458|PMID:20350294|PMID:20418531|PMID:20482598|PMID:20530328|PMID:20587496|PMID:20951041|PMID:21149811|PMID:21258814|PMID:21285398|PMID:21326314|PMID:21508331|PMID:21519004|PMID:21531138|PMID:21576112|PMID:21601224|PMID:21707411|PMID:21715711|PMID:21772703|PMID:21840889|PMID:21987543|PMID:22189565|PMID:22206013|PMID:22442078|PMID:22492563|PMID:22494076|PMID:22762946|PMID:22851605|PMID:22926664|PMID:23456260|PMID:23733358|PMID:23781337|PMID:23806086|PMID:24033266|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24604904|PMID:24627108|PMID:24819634|PMID:24862862|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25326637|PMID:25403865|PMID:25448007|PMID:25614874|PMID:25741868|PMID:25802885|PMID:25957633|PMID:26085578|PMID:26114802|PMID:26143526|PMID:26147798|PMID:26230519|PMID:26257172|PMID:26307494|PMID:26316991|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26454100|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26764160|PMID:26801520|PMID:26955893|PMID:26956144|PMID:26968460|PMID:26989944|PMID:27025386|PMID:27027447|PMID:27088055|PMID:27100445|PMID:27265096|PMID:27549087|PMID:27553710|PMID:27582484|PMID:27859025|PMID:27862672|PMID:27863451|PMID:28063088|PMID:28215760|PMID:28251916|PMID:28286897|PMID:28380071|PMID:28414270|PMID:28492532|PMID:28660751|PMID:29068134|PMID:29266326|PMID:29341354|PMID:29358271|PMID:29361379|PMID:29473246|PMID:29625556|PMID:29674596|PMID:29790872|PMID:29858556|PMID:29898954|PMID:30158064|PMID:30210586|PMID:30340945|PMID:30442897|PMID:30649465|PMID:30659145|PMID:30882371|PMID:31127728|PMID:31130284|PMID:31186069|PMID:31188717|PMID:31211173|PMID:31315766|PMID:31372974|PMID:31640251|PMID:31664033|PMID:31673878|PMID:31701603|PMID:31832804|PMID:32376792|PMID:32399692|PMID:32483926|PMID:32522799|PMID:32657593|PMID:32963807|PMID:33110000|PMID:33333791|PMID:33415332|PMID:33475540|PMID:33502018|PMID:33841295|PMID:34103343|PMID:34193129|PMID:34232518|PMID:34354735|PMID:34366782|PMID:34426522|PMID:34721278|PMID:35418194|PMID:35449525|PMID:35936615|PMID:35938991|PMID:36790232|PMID:37091313|PMID:37712079|PMID:37797217|PMID:37927275|PMID:38124143|PMID:39825153|PMID:8406488|PMID:9409358|PMID:9536098
12145944	MFN2	mitofusin 2	gene	DOID:9004551	Charcot-Marie-Tooth Disease Type 2A2		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2A2 | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A2	PMID:15549395|PMID:16043786|PMID:16087932|PMID:16437557|PMID:16714318|PMID:16762064|PMID:16835246|PMID:17309650|PMID:17444508|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:18996695|PMID:19618221|PMID:19812251|PMID:19889647|PMID:19909486|PMID:20008656|PMID:20301684|PMID:20530328|PMID:21258814|PMID:21326314|PMID:21508331|PMID:21531138|PMID:21576112|PMID:21707411|PMID:21715711|PMID:21840889|PMID:21987543|PMID:22206013|PMID:22492563|PMID:22851605|PMID:22926664|PMID:23781337|PMID:23800155|PMID:24053775|PMID:24088041|PMID:24126688|PMID:24444136|PMID:24450158|PMID:24473995|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25403865|PMID:25741868|PMID:25850958|PMID:26114802|PMID:26257172|PMID:26306937|PMID:26307494|PMID:26378787|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26801520|PMID:26930221|PMID:26955893|PMID:26956144|PMID:26968897|PMID:27549087|PMID:27582484|PMID:27862672|PMID:28251916|PMID:28286897|PMID:28492532|PMID:28660751|PMID:29361379|PMID:29625556|PMID:29674596|PMID:29858556|PMID:29898954|PMID:30442897|PMID:30649465|PMID:31130284|PMID:31211173|PMID:31372974|PMID:31664033|PMID:31701603|PMID:31827005|PMID:32376792|PMID:32963807|PMID:33110000|PMID:33415332|PMID:33475540|PMID:34721278|PMID:35177962|PMID:35922214|PMID:37712079|PMID:42236346
12145944	MFN2	mitofusin 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung (rat)	PMID:25560372|REF_RGD_ID:12437080
12145944	MFN2	mitofusin 2	gene	DOID:9004866	Ataxia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9005526	Pulmonary Edema of Mountaineers		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:23517027|REF_RGD_ID:12738217
12145944	MFN2	mitofusin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle flaccidity	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:heart, mitochondrion (rat)	PMID:27998959|REF_RGD_ID:12910739
12145944	MFN2	mitofusin 2	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:28483572|REF_RGD_ID:12910731
12145944	MFN2	mitofusin 2	gene	DOID:9006166	Pulmonary Hypertension, Hypoxia-Induced		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung (rat)	PMID:26485208|REF_RGD_ID:12910856
12145944	MFN2	mitofusin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:27491814|REF_RGD_ID:12910831
12145944	MFN2	mitofusin 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:732569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886221
12145944	MFN2	mitofusin 2	gene	DOID:9007573	Flatfoot		ISO	RGD:732569	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:18316077|PMID:18425620|PMID:18946002|PMID:18957892|PMID:20008656|PMID:21326314|PMID:21531138|PMID:21840889|PMID:22492563|PMID:24088041|PMID:24957169|PMID:25025039|PMID:25741868|PMID:26307494|PMID:26382835|PMID:26633542|PMID:26633545|PMID:28492532|PMID:28660751|PMID:35177962
12145944	MFN2	mitofusin 2	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24715199|REF_RGD_ID:13204838
12145944	MFN2	mitofusin 2	gene	DOID:9007697	Charcot-Marie-Tooth Disease Type 6A		ISO	RGD:732569	D	RGD:7240710	20190911	OMIM			
12145944	MFN2	mitofusin 2	gene	DOID:9007697	Charcot-Marie-Tooth Disease Type 6A		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA | ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY	PMID:16043786|PMID:16437557|PMID:16714318|PMID:16835246|PMID:18316077|PMID:18425620|PMID:18458227|PMID:18946002|PMID:18957892|PMID:19889647|PMID:20008656|PMID:21258814|PMID:21326314|PMID:21531138|PMID:21576112|PMID:21715711|PMID:21840889|PMID:22492563|PMID:23781337|PMID:23800155|PMID:24088041|PMID:24450158|PMID:24819634|PMID:24863639|PMID:24957169|PMID:25025039|PMID:25741868|PMID:25850958|PMID:26114802|PMID:26306937|PMID:26307494|PMID:26382835|PMID:26392352|PMID:26467025|PMID:26633542|PMID:26633545|PMID:26686600|PMID:26752306|PMID:26930221|PMID:26955893|PMID:26968897|PMID:27582484|PMID:27862672|PMID:28492532|PMID:28660751|PMID:29625556|PMID:29858556|PMID:30442897|PMID:31372974|PMID:31701603|PMID:31827005|PMID:32376792|PMID:33415332|PMID:33475540|PMID:35177962|PMID:35922214|PMID:38092249
12145944	MFN2	mitofusin 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:628843	D	RGD:9068941	20200609	RGD			PMID:24721408|REF_RGD_ID:13204835
12145944	MFN2	mitofusin 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:16762064|PMID:16835246|PMID:19889647|PMID:22492563|PMID:22851605|PMID:22926664|PMID:24473995|PMID:24957169|PMID:25741868|PMID:26467025|PMID:26801520|PMID:28251916|PMID:28492532|PMID:29674596|PMID:30649465|PMID:31664033|PMID:37091313
12145944	MFN2	mitofusin 2	gene	DOID:9008421	Epistaxis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9008563	Charcot-Marie-Tooth Disease, Type 2A		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 2A	PMID:16043786|PMID:18316077|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9008824	Sarcopenia		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:increased expression:extensor digitorum longus  (rat)	PMID:23220115|REF_RGD_ID:12738219
12145944	MFN2	mitofusin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:913	atrophic muscular disease		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal lower limb amyotrophy	PMID:15549395|PMID:24444136|PMID:25403865|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32963807|PMID:33110000|PMID:33415332
12145944	MFN2	mitofusin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:16043786|PMID:24126688|PMID:24450158|PMID:25741868|PMID:26467025|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732569	D	RGD:9068941	20260813	RGD		mRNA:decreased expression:skeletal muscle tissue (human)	PMID:16123358|REF_RGD_ID:13204820
12145944	MFN2	mitofusin 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:628843	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (rat)	PMID:24663492|REF_RGD_ID:12453042
12145944	MFN2	mitofusin 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868|PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:971	tendinitis		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tendonitis	PMID:25741868
12145944	MFN2	mitofusin 2	gene	DOID:9834	hyperopia		ISO	RGD:732569	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12145944	MFN2	mitofusin 2	gene	DOID:9970	obesity		ISO	RGD:732569	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:0060055	popliteal pterygium syndrome		ISO	RGD:1323282	D	RGD:9068941	20260604	MouseDO		OMIM:119500 | OMIM:263650	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:1324	lung cancer		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:7240710	20180130	OMIM			
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:9001939	Bartsocas-Papas Syndrome 1		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1 | ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1	PMID:25741868|PMID:28492532
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:7240710	20221207	OMIM			
12145990	RIPK4	receptor interacting serine/threonine kinase 4	gene	DOID:9008620	Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome		ISO	RGD:1323281	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHAND SYNDROME | ClinVar Annotator: match by term: RIPK4-related condition	PMID:25741868|PMID:28492532
12146003	SP9	Sp9 transcription factor	gene	DOID:1059	intellectual disability		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:38288683
12146003	SP9	Sp9 transcription factor	gene	DOID:12849	autistic disorder		ISO	RGD:2303677	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12146003	SP9	Sp9 transcription factor	gene	DOID:1824	status epilepticus		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized convulsive status epilepticus	
12146003	SP9	Sp9 transcription factor	gene	DOID:1826	epilepsy		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38288683
12146003	SP9	Sp9 transcription factor	gene	DOID:1827	generalized epilepsy		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:38288683
12146003	SP9	Sp9 transcription factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12146003	SP9	Sp9 transcription factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2303677	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:38288683
12146003	SP9	Sp9 transcription factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2303677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:38288683
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23208507
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1352454	D	RGD:9068941	20200609	RGD			PMID:8387545|REF_RGD_ID:1599922
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:0080700	caudal regression syndrome		ISO	RGD:727921	D	RGD:9068941	20210226	RGD			PMID:27727328|REF_RGD_ID:40924666
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:1148	polydactyly		ISO	RGD:727921	D	RGD:9068941	20200609	RGD		DNA:deletion:intron (rat)	PMID:19191224|REF_RGD_ID:2312786
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24763052
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1352454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:9007200	acute promyelocytic leukemia with PLZF/RARA		ISO	RGD:1352454	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ZBTB16-related condition	PMID:28492532
12146010	ZBTB16	zinc finger and BTB domain containing 16	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146028	ANKRD40	ankyrin repeat domain 40	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146028	ANKRD40	ankyrin repeat domain 40	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12146028	ANKRD40	ankyrin repeat domain 40	gene	DOID:5041	esophageal cancer		ISO	RGD:1602991	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146028	ANKRD40	ankyrin repeat domain 40	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1602991	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12146028	ANKRD40	ankyrin repeat domain 40	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146038	HPSE	heparanase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146038	HPSE	heparanase	gene	DOID:10534	stomach cancer		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146038	HPSE	heparanase	gene	DOID:1909	melanoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146038	HPSE	heparanase	gene	DOID:2527	nephrosis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16899518
12146038	HPSE	heparanase	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12146038	HPSE	heparanase	gene	DOID:4362	cervical cancer		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146038	HPSE	heparanase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146038	HPSE	heparanase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146038	HPSE	heparanase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22240343
12146038	HPSE	heparanase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095483|PMID:18458672
12146038	HPSE	heparanase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22240343
12146038	HPSE	heparanase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146038	HPSE	heparanase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391819
12146054	MB21D2	Mab-21 domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146054	MB21D2	Mab-21 domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1601820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146054	MB21D2	Mab-21 domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1601820	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146063	MIR410	microRNA mir-410	gene	DOID:1324	lung cancer		ISO	RGD:1608191	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12146063	MIR410	microRNA mir-410	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1603784	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12146063	MIR410	microRNA mir-410	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1603784	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146063	MIR410	microRNA mir-410	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603784	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12146063	MIR410	microRNA mir-410	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1603784	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146063	MIR410	microRNA mir-410	gene	DOID:9452	steatotic liver disease		ISO	RGD:1603784	D	RGD:9068941	20211224	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12146109	GPX5	glutathione peroxidase 5	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1352844	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12146109	GPX5	glutathione peroxidase 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1352844	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:10534	stomach cancer		ISO	RGD:1605582	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:1115	sarcoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:11383	cryptorchidism		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:1324	lung cancer		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:1909	melanoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:3275	thymoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:4362	cervical cancer		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1605582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:630	genetic disease		ISO	RGD:1605582	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:29808498
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9002395	Hypothermia		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothermia	PMID:25741868
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9002752	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES		ISO	RGD:1605582	D	RGD:7240710	20210825	OMIM			
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9002752	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES		ISO	RGD:1605582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: EL-HATTAB-SCHMIDTS SYNDROME | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities | ClinVar Annotator: match by term: PPP1R21-related condition	PMID:25741868|PMID:28492532|PMID:29808498|PMID:30520571
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146118	PPP1R21	protein phosphatase 1 regulatory subunit 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:0060058	lymphoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10283	prostate cancer		ISO	RGD:1348696	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10283	prostate cancer		ISO	RGD:1348696	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:10534	stomach cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1115	sarcoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1324	lung cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:14228	oligospermia		ISO	RGD:1348696	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34822792
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:1909	melanoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:2394	ovarian cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3070	high grade glioma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3275	thymoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:4362	cervical cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:5041	esophageal cancer		ISO	RGD:1348696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6039	uveal melanoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9002321	Teratozoospermia		ISO	RGD:1348696	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34822792
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146144	YTHDC2	YTH N6-methyladenosine RNA binding protein C2	gene	DOID:9256	colorectal cancer		ISO	RGD:1348696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy		ISO	RGD:1320660	D	RGD:7240710	20221214	OMIM			
12146177	RRAGD	Ras related GTP binding D	gene	DOID:0060972	renal hypomagnesemia 7, with or without dilated cardiomyopathy		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY | ClinVar Annotator: match by term: Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	PMID:25741868|PMID:34607910|PMID:37188688|PMID:38372174
12146177	RRAGD	Ras related GTP binding D	gene	DOID:10534	stomach cancer		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:1115	sarcoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:1909	melanoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:3275	thymoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:4362	cervical cancer		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:630	genetic disease		ISO	RGD:1320660	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146177	RRAGD	Ras related GTP binding D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060237	Warburg micro syndrome		IAGP		D	RGD:12801476	20250430	OMIA		Polyneuropathy, RAB3GAP1-related	PMID:9240838|PMID:9549867|PMID:20638305|PMID:9684979|PMID:9862062|PMID:9928831|PMID:26596647|PMID:26607784|PMID:26968732|PMID:37582787|PMID:38003185|PMID:38334230
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060237	Warburg micro syndrome		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Warburg Micro syndrome	PMID:35196747
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0060261	congenital ptosis		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0110716	Warburg micro syndrome 1		ISO	RGD:1604828	D	RGD:7240710	20180228	OMIM			
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:0110716	Warburg micro syndrome 1		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RAB3GAP1-related condition | ClinVar Annotator: match by term: RAB3GAP1-related disorder | ClinVar Annotator: match by term: WARBURG MICRO SYNDROME 1 | ClinVar Annotator: match by term: Warburg micro syndrome 1	PMID:15216542|PMID:15696165|PMID:16199547|PMID:17576681|PMID:18414213|PMID:20512159|PMID:20584031|PMID:23420520|PMID:25741868|PMID:26421802|PMID:26467025|PMID:28454995|PMID:28492532|PMID:29878067|PMID:29924831|PMID:30202406|PMID:30730599|PMID:31319225|PMID:32651314|PMID:32740904|PMID:32870266|PMID:34702808|PMID:37575647|PMID:9536098
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:10629	microphthalmia		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral microphthalmos	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1604828	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:13938	amenorrhea		ISO	RGD:1604828	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32870266
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:420	hypertrichosis		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrichosis	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:480	movement disease		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604828	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604828	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532|PMID:29924831
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:20512159|PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32740904|PMID:34702808
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:674	cleft palate		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:83	cataract		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital cataract	PMID:25741868
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9000980	Martsolf Syndrome 2		ISO	RGD:1604828	D	RGD:7240710	20210728	OMIM			
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9000980	Martsolf Syndrome 2		ISO	RGD:1604828	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MARTSOLF SYNDROME 2 | ClinVar Annotator: match by term: Martsolf syndrome 2	PMID:18414213|PMID:23420520|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30730599|PMID:32740904|PMID:33306828
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146188	RAB3GAP1	RAB3 GTPase activating protein catalytic subunit 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1604828	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:10534	stomach cancer		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:3275	thymoma		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:732489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12146224	GTF3A	general transcription factor IIIA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:9003566	Mesothelioma		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146224	GTF3A	general transcription factor IIIA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732489	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146243	CBR4	carbonyl reductase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146243	CBR4	carbonyl reductase 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1602997	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: PALLD-related condition | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Pancreatic cancer, susceptibility to, 2	PMID:25741868|PMID:28492532
12146243	CBR4	carbonyl reductase 4	gene	DOID:3275	thymoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146243	CBR4	carbonyl reductase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146243	CBR4	carbonyl reductase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146243	CBR4	carbonyl reductase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602997	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146243	CBR4	carbonyl reductase 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1602997	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:25741868|PMID:28492532
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:0081300	oculopharyngodistal myopathy 4		ISO	RGD:1602163	D	RGD:7240710	20220406	OMIM			
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:0081300	oculopharyngodistal myopathy 4		ISO	RGD:1602163	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Oculopharyngodistal myopathy 4	PMID:25741868
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:3275	thymoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12146257	RILPL1	Rab interacting lysosomal protein like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:3275	thymoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146277	HDHD5	haloacid dehalogenase like hydrolase domain containing 5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12146288	SDC2	syndecan 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146288	SDC2	syndecan 2	gene	DOID:1909	melanoma		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146288	SDC2	syndecan 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146288	SDC2	syndecan 2	gene	DOID:674	cleft palate		ISO	RGD:734386	D	RGD:9068941	20200609	RGD			PMID:18716610|REF_RGD_ID:12798509
12146288	SDC2	syndecan 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:734386	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12146288	SDC2	syndecan 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734386	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146288	SDC2	syndecan 2	gene	DOID:9296	cleft lip		ISO	RGD:734386	D	RGD:9068941	20200609	RGD			PMID:18716610|REF_RGD_ID:12798509
12146288	SDC2	syndecan 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734386	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:14976204|REF_RGD_ID:2311706
12146301	CTH	cystathionine gamma-lyase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:0090142	cystathioninuria		ISO	RGD:732084	D	RGD:7240710	20180130	OMIM			
12146301	CTH	cystathionine gamma-lyase	gene	DOID:0090142	cystathioninuria		ISO	RGD:732084	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CYSTATHIONINURIA | ClinVar Annotator: match by term: Cystathioninuria	PMID:12574942|PMID:18476726|PMID:19019829|PMID:19428278|PMID:20584029|PMID:25741868|PMID:28492532
12146301	CTH	cystathionine gamma-lyase	gene	DOID:1115	sarcoma		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:1909	melanoma		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:630	genetic disease		ISO	RGD:732084	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12146301	CTH	cystathionine gamma-lyase	gene	DOID:83	cataract		ISO	RGD:2443	D	RGD:9068941	20200609	RGD			PMID:15683713|REF_RGD_ID:1600763
12146301	CTH	cystathionine gamma-lyase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:732084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
12146301	CTH	cystathionine gamma-lyase	gene	DOID:9007748	Retinal Neovascularization		ISO	RGD:732084	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27273718
12146301	CTH	cystathionine gamma-lyase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732084	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146301	CTH	cystathionine gamma-lyase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:732084	D	RGD:9068941	20200609	RGD		cystathioninuria, OMIM:219500, 940delCT, T67I, Q240E	PMID:12574942|REF_RGD_ID:1600761
12146317	KIAA0586	KIAA0586	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1323087	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:25741868
12146317	KIAA0586	KIAA0586	gene	DOID:0050757	deafness-dystonia-optic neuronopathy syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MTS	PMID:25741868
12146317	KIAA0586	KIAA0586	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568|PMID:39394465
12146317	KIAA0586	KIAA0586	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meckel syndrome	PMID:25741868
12146317	KIAA0586	KIAA0586	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146317	KIAA0586	KIAA0586	gene	DOID:0060340	ciliopathy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliopathy	PMID:16199547|PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532
12146317	KIAA0586	KIAA0586	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly		ISO	RGD:1323087	D	RGD:7240710	20180130	OMIM			
12146317	KIAA0586	KIAA0586	gene	DOID:0110096	short-rib thoracic dysplasia 14 with polydactyly		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: KIAA0586-related condition | ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 14 with polydactyly	PMID:16199547|PMID:17576681|PMID:2080096|PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28492532|PMID:28497568|PMID:32581362|PMID:9536098
12146317	KIAA0586	KIAA0586	gene	DOID:0110992	Joubert syndrome 23		ISO	RGD:1323087	D	RGD:7240710	20180130	OMIM			
12146317	KIAA0586	KIAA0586	gene	DOID:0110992	Joubert syndrome 23		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 23 | ClinVar Annotator: match by term: Joubert syndrome 23	PMID:16199547|PMID:17576681|PMID:25640679|PMID:25741868|PMID:26026149|PMID:2609613|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28492532|PMID:28497568|PMID:32581362|PMID:9536098
12146317	KIAA0586	KIAA0586	gene	DOID:10534	stomach cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146317	KIAA0586	KIAA0586	gene	DOID:1059	intellectual disability		ISO	RGD:1323087	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:20301500|PMID:24033266|PMID:25741868|PMID:25807282|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26386247|PMID:26437029|PMID:28125082|PMID:28492532|PMID:29068549|PMID:30120217|PMID:32381069|PMID:32581362|PMID:36788019|PMID:39033378
12146317	KIAA0586	KIAA0586	gene	DOID:1059	intellectual disability		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:1115	sarcoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146317	KIAA0586	KIAA0586	gene	DOID:1148	polydactyly		ISO	RGD:1323087	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15554946
12146317	KIAA0586	KIAA0586	gene	DOID:1324	lung cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146317	KIAA0586	KIAA0586	gene	DOID:1826	epilepsy		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
12146317	KIAA0586	KIAA0586	gene	DOID:1909	melanoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146317	KIAA0586	KIAA0586	gene	DOID:2234	focal epilepsy		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:3070	high grade glioma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12146317	KIAA0586	KIAA0586	gene	DOID:3275	thymoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146317	KIAA0586	KIAA0586	gene	DOID:4362	cervical cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146317	KIAA0586	KIAA0586	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146317	KIAA0586	KIAA0586	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12146317	KIAA0586	KIAA0586	gene	DOID:5041	esophageal cancer		ISO	RGD:1323087	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146317	KIAA0586	KIAA0586	gene	DOID:540	strabismus		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: strabismus	PMID:25741868
12146317	KIAA0586	KIAA0586	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146317	KIAA0586	KIAA0586	gene	DOID:630	genetic disease		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12146317	KIAA0586	KIAA0586	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146317	KIAA0586	KIAA0586	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
12146317	KIAA0586	KIAA0586	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
12146317	KIAA0586	KIAA0586	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568|PMID:32581362
12146317	KIAA0586	KIAA0586	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26026149|PMID:26096313|PMID:26166481|PMID:26386044|PMID:26437029|PMID:28492532|PMID:28497568|PMID:30055837
12146317	KIAA0586	KIAA0586	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
12146317	KIAA0586	KIAA0586	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1323087	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:26096313|PMID:26166481|PMID:26386044|PMID:28492532|PMID:28497568
12146317	KIAA0586	KIAA0586	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146317	KIAA0586	KIAA0586	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323087	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26938784
12146317	KIAA0586	KIAA0586	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1323087	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15554946
12146317	KIAA0586	KIAA0586	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146317	KIAA0586	KIAA0586	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146317	KIAA0586	KIAA0586	gene	DOID:9256	colorectal cancer		ISO	RGD:1323087	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146375	YLPM1	YLP motif containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146375	YLPM1	YLP motif containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12146375	YLPM1	YLP motif containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146375	YLPM1	YLP motif containing 1	gene	DOID:1909	melanoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1351286	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12146375	YLPM1	YLP motif containing 1	gene	DOID:3275	thymoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146375	YLPM1	YLP motif containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146375	YLPM1	YLP motif containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12146375	YLPM1	YLP motif containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351286	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146375	YLPM1	YLP motif containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12146375	YLPM1	YLP motif containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146375	YLPM1	YLP motif containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12146375	YLPM1	YLP motif containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146375	YLPM1	YLP motif containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146375	YLPM1	YLP motif containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1351286	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146410	RFX5	regulatory factor X5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146410	RFX5	regulatory factor X5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146410	RFX5	regulatory factor X5	gene	DOID:10534	stomach cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146410	RFX5	regulatory factor X5	gene	DOID:3275	thymoma		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146410	RFX5	regulatory factor X5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146410	RFX5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group B | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
12146410	RFX5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: Bare lymphocyte syndrome, type II, complementation group c | ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:12368908|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:29527204|PMID:30084052|PMID:30170160|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
12146410	RFX5	regulatory factor X5	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:10079298|PMID:10395672|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25741868|PMID:26193622|PMID:28492532|PMID:32135276|PMID:32888943|PMID:7744245|PMID:9401005|PMID:9536098
12146410	RFX5	regulatory factor X5	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1323259	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Bare Lymphocyte Syndrome	PMID:10079298|PMID:16199547|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
12146410	RFX5	regulatory factor X5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146410	RFX5	regulatory factor X5	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12146410	RFX5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:7240710	20240619	OMIM			
12146410	RFX5	regulatory factor X5	gene	DOID:9008744	MHC CLASS II DEFICIENCY 3		ISO	RGD:1323259	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: MHC CLASS II DEFICIENCY 3 | ClinVar Annotator: match by term: MHC class II deficiency 3	PMID:10079298|PMID:25741868|PMID:28492532|PMID:30084052|PMID:30170160|PMID:32888943|PMID:37584719|PMID:7744245|PMID:9401005
12146410	RFX5	regulatory factor X5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323259	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146410	RFX5	regulatory factor X5	gene	DOID:9009158	MHC CLASS II DEFICIENCY 1		ISO	RGD:1323259	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP A | ClinVar Annotator: match by term: Bare lymphocyte syndrome 2 | ClinVar Annotator: match by term: MHC class II deficiency 1	PMID:10079298|PMID:12368908|PMID:16199547|PMID:24033266|PMID:25741868|PMID:28492532|PMID:7744245|PMID:9401005
12146410	RFX5	regulatory factor X5	gene	DOID:9009174	MHC CLASS II DEFICIENCY 5		ISO	RGD:1323259	D	RGD:7240710	20240821	OMIM			
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:0060058	lymphoma		ISO	RGD:1318496	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:0080600	COVID-19		ISO	RGD:1318496	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1318496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20453842|PMID:23143596
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:8778	Crohn's disease		ISO	RGD:1318496	D	RGD:9068941	20221103	CTD		CTD Direct Evidence: marker/mechanism	PMID:21102463|PMID:36038634
12146441	TAGAP	T cell activation RhoGTPase activating protein	gene	DOID:8893	psoriasis		ISO	RGD:1318496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143594
12146455	FRMD1	FERM domain containing 1	gene	DOID:0111190	distal myopathy 4		ISO	RGD:1352660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy, distal, 4	PMID:25741868
12146455	FRMD1	FERM domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146455	FRMD1	FERM domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146455	FRMD1	FERM domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146455	FRMD1	FERM domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146455	FRMD1	FERM domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146455	FRMD1	FERM domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1352660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146471	CLSTN3	calsyntenin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12146471	CLSTN3	calsyntenin 3	gene	DOID:10534	stomach cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146471	CLSTN3	calsyntenin 3	gene	DOID:1909	melanoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:3275	thymoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:4362	cervical cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146471	CLSTN3	calsyntenin 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146471	CLSTN3	calsyntenin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146471	CLSTN3	calsyntenin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146471	CLSTN3	calsyntenin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146471	CLSTN3	calsyntenin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:732033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146496	SLC16A9	solute carrier family 16 member 9	gene	DOID:10534	stomach cancer		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146496	SLC16A9	solute carrier family 16 member 9	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12146496	SLC16A9	solute carrier family 16 member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146496	SLC16A9	solute carrier family 16 member 9	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12146496	SLC16A9	solute carrier family 16 member 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604367	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1604367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25007945
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:10534	stomach cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:2394	ovarian cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:4362	cervical cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146528	UTP25	UTP25 small subunit processome component	gene	DOID:9256	colorectal cancer		ISO	RGD:1604367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12146542	C1QL1	complement C1q like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1346408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1346408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1346408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146548	MPP2	MAGUK p55 scaffold protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146573	GOLT1A	golgi transport 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146573	GOLT1A	golgi transport 1A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146573	GOLT1A	golgi transport 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146573	GOLT1A	golgi transport 1A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146581	SYT2	synaptotagmin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146581	SYT2	synaptotagmin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146581	SYT2	synaptotagmin 2	gene	DOID:0110659	congenital myasthenic syndrome 7		ISO	RGD:735278	D	RGD:7240710	20190116	OMIM			
12146581	SYT2	synaptotagmin 2	gene	DOID:0110659	congenital myasthenic syndrome 7		ISO	RGD:735278	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 7 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7, presynaptic | ClinVar Annotator: match by term: SYT2-related myasthenia	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919|PMID:31230720|PMID:32403337|PMID:34037996
12146581	SYT2	synaptotagmin 2	gene	DOID:10534	stomach cancer		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:1115	sarcoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:731270	D	RGD:9068941	20211203	RGD		protein:decreased expression:multiple (mouse)	PMID:28173138|REF_RGD_ID:11535337
12146581	SYT2	synaptotagmin 2	gene	DOID:1283	enterocele		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:1324	lung cancer		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:1826	epilepsy		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:1969	cerebral palsy		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:3275	thymoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:735278	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome	
12146581	SYT2	synaptotagmin 2	gene	DOID:4362	cervical cancer		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146581	SYT2	synaptotagmin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146581	SYT2	synaptotagmin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12146581	SYT2	synaptotagmin 2	gene	DOID:630	genetic disease		ISO	RGD:735278	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146581	SYT2	synaptotagmin 2	gene	DOID:7319	axonal neuropathy		ISO	RGD:735278	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral axonal neuropathy	PMID:25741868
12146581	SYT2	synaptotagmin 2	gene	DOID:9001510	Funnel Chest		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:9001976	Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive		ISO	RGD:735278	D	RGD:7240710	20211027	OMIM			
12146581	SYT2	synaptotagmin 2	gene	DOID:9001976	Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive		ISO	RGD:735278	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive | ClinVar Annotator: match by term: SYT2-related condition	PMID:25741868|PMID:28492532|PMID:32776697
12146581	SYT2	synaptotagmin 2	gene	DOID:9004507	Hirsutism		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:9005077	Joint Instability		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:9005532	Muscle Weakness		ISO	RGD:735278	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12146581	SYT2	synaptotagmin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25192047|PMID:25741868|PMID:26519543|PMID:28492532|PMID:28953919
12146581	SYT2	synaptotagmin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12146593	CFAP97D1	CFAP97 domain containing 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:3458383	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:1909	melanoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:3275	thymoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:5041	esophageal cancer		ISO	RGD:1602645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1602645	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12146603	SBSPON	somatomedin B and thrombospondin type 1 domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:1909	melanoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146638	LAX1	lymphocyte transmembrane adaptor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146654	MISFA	mitochondrial sheath formation associated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:6766625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146665	SPMIP8	sperm microtubule inner protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146665	SPMIP8	sperm microtubule inner protein 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602955	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146695	PPP1R14D	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:10534	stomach cancer		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146695	PPP1R14D	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:4362	cervical cancer		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12146695	PPP1R14D	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146695	PPP1R14D	protein phosphatase 1 regulatory inhibitor subunit 14D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12146712	IGFN1	immunoglobulin like and fibronectin type III domain containing 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1606752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
12146741	MIR302D	microRNA mir-302d	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1352286	D	RGD:9068941	20220714	RGD		Human cells in mouse model	PMID:28352351|REF_RGD_ID:152998975
12146741	MIR302D	microRNA mir-302d	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146741	MIR302D	microRNA mir-302d	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1352286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146744	MIR222	microRNA mir-222	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:31841247|REF_RGD_ID:151708741
12146744	MIR222	microRNA mir-222	gene	DOID:0050866	oral squamous cell carcinoma	exacerbates	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:21226887|REF_RGD_ID:151708999
12146744	MIR222	microRNA mir-222	gene	DOID:0080375	gastroesophageal adenocarcinoma	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:25429911|REF_RGD_ID:151893460
12146744	MIR222	microRNA mir-222	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:22267590|REF_RGD_ID:151709001
12146744	MIR222	microRNA mir-222	gene	DOID:10534	stomach cancer		ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		RNA:increased expression:plasma	PMID:30880765|REF_RGD_ID:151709006
12146744	MIR222	microRNA mir-222	gene	DOID:10534	stomach cancer		ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		RNA:increased expression:stomach	PMID:27994199|REF_RGD_ID:151709002
12146744	MIR222	microRNA mir-222	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2325544	D	RGD:9068941	20220421	RGD		RNA:increased expression:dorsal root ganglion neuron	PMID:25484256|REF_RGD_ID:151893491
12146744	MIR222	microRNA mir-222	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2325544	D	RGD:9068941	20220428	RGD		RNA:increased expression:sciatic nerve:	PMID:22393241|REF_RGD_ID:11041067
12146744	MIR222	microRNA mir-222	gene	DOID:12858	Huntington's disease		ISO	RGD:1608223	D	RGD:9068941	20200609	RGD		down-regulated	PMID:21035445|REF_RGD_ID:11041745
12146744	MIR222	microRNA mir-222	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:26909602|REF_RGD_ID:151708998
12146744	MIR222	microRNA mir-222	gene	DOID:1612	breast cancer		ISO	RGD:2325544	D	RGD:9068941	20220428	RGD		RNA:increased expression:breast	PMID:32157513|REF_RGD_ID:152025189
12146744	MIR222	microRNA mir-222	gene	DOID:3905	lung carcinoma	treatment	ISO	RGD:1608223	D	RGD:9068941	20220421	RGD			PMID:27566197|REF_RGD_ID:151893461
12146744	MIR222	microRNA mir-222	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:24955421|PMID:30233216|REF_RGD_ID:151708732|REF_RGD_ID:151708743
12146744	MIR222	microRNA mir-222	gene	DOID:3963	thyroid gland carcinoma		ISO	RGD:1352986	D	RGD:9068941	20220428	RGD		RNA:increased expression:thyroid gland	PMID:16728577|REF_RGD_ID:152023739
12146744	MIR222	microRNA mir-222	gene	DOID:4043	skeletal muscle cancer		ISO	RGD:2325544	D	RGD:9068941	20220421	RGD		RNA:increased expression: triceps surae muscle	PMID:23447020|REF_RGD_ID:151893488
12146744	MIR222	microRNA mir-222	gene	DOID:5082	liver cirrhosis		ISO	RGD:1608223	D	RGD:9068941	20220421	RGD		RNA:increased expression:liver	PMID:22267590|REF_RGD_ID:151709001
12146744	MIR222	microRNA mir-222	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12146744	MIR222	microRNA mir-222	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:24124720|REF_RGD_ID:151709003
12146744	MIR222	microRNA mir-222	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD			PMID:20103675|REF_RGD_ID:151709004
12146744	MIR222	microRNA mir-222	gene	DOID:8440	ileus	treatment	ISO	RGD:2325544	D	RGD:9068941	20220421	RGD			PMID:30852906|REF_RGD_ID:151893492
12146744	MIR222	microRNA mir-222	gene	DOID:9000146	Plaque, Atherosclerotic		ISO	RGD:1352986	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34862716
12146744	MIR222	microRNA mir-222	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12146744	MIR222	microRNA mir-222	gene	DOID:9001581	Constipation		ISO	RGD:2325544	D	RGD:9068941	20220505	RGD		RNA:increased expression:colon	PMID:33792838|REF_RGD_ID:152025536
12146744	MIR222	microRNA mir-222	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:1608223	D	RGD:9068941	20220421	RGD			PMID:27614440|REF_RGD_ID:151893489
12146744	MIR222	microRNA mir-222	gene	DOID:9003139	Cardiac Fibrosis	severity	ISO	RGD:1352986	D	RGD:9068941	20220428	RGD		associated with dilated cardiomyopathy;	PMID:29255073|REF_RGD_ID:18337269
12146744	MIR222	microRNA mir-222	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1352986	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34862716
12146744	MIR222	microRNA mir-222	gene	DOID:9004763	Trauma and Stressor Related Disorders	disease_progression	ISO	RGD:2325544	D	RGD:9068941	20220428	RGD			PMID:22078298|REF_RGD_ID:152023731
12146744	MIR222	microRNA mir-222	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146744	MIR222	microRNA mir-222	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12146744	MIR222	microRNA mir-222	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12146744	MIR222	microRNA mir-222	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12146744	MIR222	microRNA mir-222	gene	DOID:9007838	Myocardial Reperfusion Injury	ameliorates	ISO	RGD:1608223	D	RGD:9068941	20220428	RGD			PMID:25863248|REF_RGD_ID:152025190
12146744	MIR222	microRNA mir-222	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		associated with stomach cancer;RNA:increased expression:stomach:	PMID:29227536|REF_RGD_ID:151708731
12146744	MIR222	microRNA mir-222	gene	DOID:9008763	Femoral Fractures	ameliorates	ISO	RGD:2325544	D	RGD:9068941	20220421	RGD			PMID:27545451|REF_RGD_ID:151893485
12146744	MIR222	microRNA mir-222	gene	DOID:9008763	Femoral Fractures	disease_progression	ISO	RGD:2325544	D	RGD:9068941	20220421	RGD			PMID:31691506|REF_RGD_ID:151893486
12146744	MIR222	microRNA mir-222	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20099276
12146744	MIR222	microRNA mir-222	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:731382	D	RGD:9068941	20220421	RGD			PMID:21132270|REF_RGD_ID:151709005
12146744	MIR222	microRNA mir-222	gene	DOID:9253	gastrointestinal stromal tumor	disease_progression	ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		DNA:SNP: :rs75246947 (human)	PMID:30983504|REF_RGD_ID:151709007
12146744	MIR222	microRNA mir-222	gene	DOID:9256	colorectal cancer		ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		RNA:increased expression:colorectum	PMID:24931456|REF_RGD_ID:151708745
12146744	MIR222	microRNA mir-222	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1352986	D	RGD:9068941	20220421	RGD		RNA:increased expression:nasopharynx	PMID:29115464|REF_RGD_ID:151708744
12146744	MIR222	microRNA mir-222	gene	DOID:9351	diabetes mellitus		ISO	RGD:2325544	D	RGD:9068941	20220429	RGD		RNA:increased expression:mandible	PMID:32194220|REF_RGD_ID:152025220
12146744	MIR222	microRNA mir-222	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352986	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24478399|PMID:28545106
12146744	MIR222	microRNA mir-222	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2325544	D	RGD:9068941	20220421	RGD		associated with Femoral Fractures;RNA:increased expression:femur	PMID:31691506|REF_RGD_ID:151893486
12146794	ZAN	zonadhesin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12146794	ZAN	zonadhesin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12146794	ZAN	zonadhesin	gene	DOID:10534	stomach cancer		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12146794	ZAN	zonadhesin	gene	DOID:1115	sarcoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12146794	ZAN	zonadhesin	gene	DOID:1324	lung cancer		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12146794	ZAN	zonadhesin	gene	DOID:1909	melanoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146794	ZAN	zonadhesin	gene	DOID:3070	high grade glioma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12146794	ZAN	zonadhesin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12146794	ZAN	zonadhesin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12146794	ZAN	zonadhesin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12146794	ZAN	zonadhesin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146794	ZAN	zonadhesin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312837	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12146794	ZAN	zonadhesin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146852	TTN	titin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:17576681|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25016126|PMID:25448463|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28857138|PMID:29420653|PMID:30564623|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Right ventricular cardiomyopathy	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:28492532
12146852	TTN	titin	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy	PMID:25741868
12146852	TTN	titin	gene	DOID:0050567	orofacial cleft		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OROFACIAL CLEFT, NONSYNDROMIC	PMID:18414213|PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:36781956
12146852	TTN	titin	gene	DOID:0050581	brachydactyly		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:23396983|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26735901|PMID:26777568|PMID:27813223|PMID:28492532|PMID:29961767|PMID:29988065|PMID:30535219|PMID:31691645|PMID:32815318|PMID:33106378|PMID:33226272|PMID:33874732|PMID:35177841|PMID:37091313
12146852	TTN	titin	gene	DOID:0050633	ocular albinism 1		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ocular albinism	PMID:25741868
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32246154|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:34137518|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33449170|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32964742|PMID:32969603|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31112426|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33449170|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34782754|PMID:35177841|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:35177841|PMID:35207729|PMID:35629941|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31218166|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:36264615|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:36264615|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:36264615|PMID:37091313|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741922|PMID:25741934|PMID:25741944|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31251381|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:35177841|PMID:35207729|PMID:35629941|PMID:36264615|PMID:37091313|PMID:37549721|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741922|PMID:25741934|PMID:25741944|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27375234|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30348779|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:31251381|PMID:31273342|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31664938|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34790974|PMID:35026164|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35629941|PMID:36264615|PMID:36703207|PMID:37091313
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TXNRD2-associated Cardiomyopathy	PMID:37301943|PMID:37328711|PMID:37549721|PMID:37904629|PMID:37926714|PMID:38489124|PMID:38641168|PMID:38689299|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741922|PMID:25741934|PMID:25741944|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27375234|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30348779|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:3125138|PMID:31273342|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31664938|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34790974|PMID:34940998|PMID:35026164|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35629941|PMID:36138163
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:36252119|PMID:36264615|PMID:36396199|PMID:36495114|PMID:36703207|PMID:36977548|PMID:37091313|PMID:37199186|PMID:37301943|PMID:37328711|PMID:37549721|PMID:37652022|PMID:37904629|PMID:37926714|PMID:38489124|PMID:38641168|PMID:38689299|PMID:39481677|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741922|PMID:25741934|PMID:25741944|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26676851|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27375234|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30348779|PMID:30365001|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:3125138|PMID:31273342|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31664938|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32826072|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34790974|PMID:34940998|PMID:35026164
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:35177841|PMID:35200695|PMID:35207729|PMID:36138163|PMID:36252119|PMID:36264615|PMID:36396199|PMID:36495114|PMID:36703207|PMID:36977548|PMID:37091313|PMID:37199186|PMID:37301943|PMID:37328711|PMID:37461109|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37904629|PMID:37926714|PMID:37967257|PMID:38489124|PMID:38641168|PMID:38689299|PMID:39198981|PMID:39481677|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22475360|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:22820391|PMID:23033978|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23910462|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24265153|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24625729|PMID:24636144|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25500949|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741922|PMID:25741934|PMID:25741944|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26406308|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26676851|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26901136|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27375234|PMID:27418678|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27981572|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28697927|PMID:28704380|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29057560|PMID:29093449|PMID:29099038|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29377983|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30025578|PMID:30086531|PMID:30242101|PMID:30333491|PMID:30348779|PMID:30365001|PMID:30415094|PMID:30429050|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609406|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30681174|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31218166|PMID:3125138|PMID:31273342|PMID:31317183|PMID:31395899|PMID:31402444|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31618753|PMID:31660661|PMID:31664938|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31856237|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31953240|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32597815|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32826072|PMID:32880476|PMID:32964742|PMID:32969603|PMID:33060286|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34587765|PMID:34731013|PMID:34731015|PMID:34756330|PMID:34782754
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:34790974|PMID:34940998|PMID:35026164|PMID:35177841|PMID:35200695|PMID:35207729|PMID:36138163|PMID:36252119|PMID:36264615|PMID:36396199|PMID:36426223|PMID:36495114|PMID:36703207|PMID:36977548|PMID:37091313|PMID:37198425|PMID:37199186|PMID:37301943|PMID:37328711|PMID:37461109|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37904629|PMID:37926714|PMID:37967257|PMID:38489124|PMID:38641168|PMID:38689299|PMID:38813989|PMID:39020067|PMID:39198981|PMID:39481677|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: TNNI3-related disorder	PMID:10053013|PMID:10462489|PMID:11717165|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:20708934|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22820391|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23463027|PMID:23478172|PMID:23518707|PMID:23861362|PMID:23910462|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24578547|PMID:24667040|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25163546|PMID:25214167|PMID:25326637|PMID:25332820|PMID:25447171|PMID:25448463|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26662719|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27375234|PMID:27493940|PMID:27532257|PMID:27662471|PMID:27813223|PMID:27854218|PMID:27854229|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27981572|PMID:28045975|PMID:28252636|PMID:28333919|PMID:28487569|PMID:28492532|PMID:28600387|PMID:28606400|PMID:28697927|PMID:28750076|PMID:28771489|PMID:28857138|PMID:29263846|PMID:29420653|PMID:29511324|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30025578|PMID:30086531|PMID:30333491|PMID:30348779|PMID:30365001|PMID:30415094|PMID:30429050|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30615648|PMID:30681174|PMID:30847666|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31273342|PMID:31402444|PMID:31539150|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31903434|PMID:31953240|PMID:31983221|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32826072|PMID:32880476|PMID:32964742|PMID:33060286|PMID:33106378|PMID:33226272|PMID:33297573|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34137518|PMID:34426522|PMID:34495297|PMID:34731013|PMID:34940998|PMID:35177841|PMID:35200695|PMID:35207729|PMID:36252119|PMID:36426223|PMID:36703207|PMID:37091313|PMID:37198425|PMID:37199186|PMID:37328711|PMID:37652022|PMID:37904629|PMID:37926714|PMID:38689299|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Idiopathic cardiomyopathy	PMID:17344846|PMID:17576681|PMID:18414213|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24667040|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25889363|PMID:25979592|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26773040|PMID:27066507|PMID:27159402|PMID:27194543|PMID:27273923|PMID:27493940|PMID:27532257|PMID:27662471|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28771489|PMID:29691892|PMID:29892087|PMID:29970176|PMID:30025578|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31402444|PMID:31539150|PMID:31691645|PMID:31737537|PMID:31983221|PMID:32343762|PMID:32746448|PMID:32778822|PMID:32826072|PMID:32964742|PMID:33060286|PMID:33106378|PMID:33297573|PMID:33393119|PMID:33449170|PMID:33500567|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34790974|PMID:34940998|PMID:35177841|PMID:35200695|PMID:36426223|PMID:37091313|PMID:37576110|PMID:37652022|PMID:37904629|PMID:39277846|PMID:39730912|PMID:39825153|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:18414213|PMID:20890277|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27194543|PMID:27273923|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:29263846|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30025578|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31402444|PMID:31539150|PMID:31691645|PMID:31737537|PMID:31983221|PMID:32343762|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32964742|PMID:33060286|PMID:33106378|PMID:33226272|PMID:33393119|PMID:33449170|PMID:33500567|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34426522|PMID:34495297|PMID:34790974|PMID:34940998|PMID:35177841|PMID:35200695|PMID:35207729|PMID:36426223|PMID:37091313|PMID:37576110|PMID:37652022|PMID:37904629|PMID:39277846|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:0060058	lymphoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:17576681|PMID:20890277|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24459294|PMID:24503780|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26467025|PMID:26773040|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:0060249	scoliosis		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	
12146852	TTN	titin	gene	DOID:0080000	muscular disease		ISO	RGD:1605120	D	RGD:9068941	20241010	CTD		CTD Direct Evidence: marker/mechanism	PMID:15802564
12146852	TTN	titin	gene	DOID:0080089	tubular aggregate myopathy 1		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MYOTUBULAR MYOPATHY, AUTOSOMAL DOMINANT	PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:33226272|PMID:33449170
12146852	TTN	titin	gene	DOID:0080092	myofibrillar myopathy 1		ISO	RGD:1605120	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy	PMID:25741868
12146852	TTN	titin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11846417|PMID:18414213|PMID:23396983|PMID:23861362|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858
12146852	TTN	titin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25589632|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	
12146852	TTN	titin	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 1	PMID:18414213|PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:36781956
12146852	TTN	titin	gene	DOID:0080954	arthrogryposis multiplex congenita		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis multiplex congenita	
12146852	TTN	titin	gene	DOID:0080991	congenital myopathy 1B		ISO	RGD:1605120	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Minicore myopathy	PMID:25741868
12146852	TTN	titin	gene	DOID:0081337	congenital myopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12146852	TTN	titin	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1605120	D	RGD:7240710	20180130	OMIM			
12146852	TTN	titin	gene	DOID:0081341	congenital myopathy 5		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY | ClinVar Annotator: match by term: Early-onset myopathy with fatal cardiomyopathy | ClinVar Annotator: match by term: MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY | ClinVar Annotator: match by term: Myopathy, early-onset, with fatal cardiomyopathy | ClinVar Annotator: match by term: Salih Myopathy | ClinVar Annotator: match by term: Salih myopathy	PMID:17576681|PMID:18414213|PMID:20890277|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24082139|PMID:24105469|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741882|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26773040|PMID:27273923|PMID:27493940|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28424332|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28851873|PMID:29263846|PMID:29970176|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31251381|PMID:31691645|PMID:32039858|PMID:32343762|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33874732|PMID:34011823|PMID:34426522|PMID:34782754|PMID:35177841|PMID:35200695|PMID:35207729|PMID:37091313|PMID:37461109|PMID:37576110|PMID:37652022|PMID:37904629|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31983221|PMID:9536098
12146852	TTN	titin	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:27066507|PMID:28492532|PMID:28822653|PMID:31028938|PMID:31983221|PMID:34426522|PMID:35207729|PMID:37091313|PMID:9536098
12146852	TTN	titin	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:17576681|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:27066507|PMID:27066551|PMID:28492532|PMID:28822653|PMID:31028938|PMID:31983221|PMID:34426522|PMID:35207729|PMID:37091313|PMID:9536098
12146852	TTN	titin	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:24033266|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:27066507|PMID:28492532|PMID:31028938|PMID:34426522|PMID:35207729|PMID:37091313
12146852	TTN	titin	gene	DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2B	PMID:25741868|PMID:27854218|PMID:28492532
12146852	TTN	titin	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1605120	D	RGD:7240710	20180130	OMIM			
12146852	TTN	titin	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J | ClinVar Annotator: match by term: Autosomal recessive titinopathy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2J | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10	PMID:10462489|PMID:11846417|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:19763152|PMID:20307669|PMID:20890277|PMID:21520333|PMID:21572417|PMID:21810661|PMID:22335739|PMID:22406018|PMID:22526018|PMID:22577215|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24395473|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25589632|PMID:25626705|PMID:25640679|PMID:25741868|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27194543|PMID:27273923|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27854218|PMID:27854229|PMID:27868399|PMID:27868403|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28166811|PMID:28295036|PMID:28416588|PMID:28424332|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:29029073|PMID:29263846|PMID:29540472|PMID:29575618|PMID:29691892|PMID:29792937|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30107846|PMID:30165862|PMID:30192042|PMID:30238059|PMID:30333491|PMID:30365001|PMID:30429050|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31053406|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31402444|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31577830|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32041989|PMID:32343762|PMID:32371228|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32826072|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33019804|PMID:33060286|PMID:33106378|PMID:33226272|PMID:33333461|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34295493|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34731013|PMID:34731015|PMID:34790974|PMID:34940998|PMID:35177841|PMID:35177847|PMID:35200695|PMID:35207729|PMID:35572216|PMID:35628876|PMID:35653365|PMID:36264615|PMID:36396199|PMID:36761691|PMID:36781956|PMID:36977548|PMID:37091313|PMID:37279760|PMID:37576110|PMID:37652022|PMID:37904629|PMID:38177409|PMID:38254962|PMID:38337354|PMID:38429495|PMID:38430701|PMID:38438525|PMID:38489124|PMID:38843839|PMID:38849547|PMID:38895864|PMID:39020067|PMID:39198997|PMID:39277846|PMID:39684706|PMID:39730912|PMID:39825153|PMID:39844436|PMID:40443119|PMID:9536098
12146852	TTN	titin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1605120	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858
12146852	TTN	titin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1605120	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32880476
12146852	TTN	titin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1605120	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:18414213|PMID:18948003|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26498160|PMID:26516846|PMID:27662471|PMID:27869827|PMID:28492532|PMID:28606400|PMID:28750076|PMID:30724488|PMID:32039858|PMID:32528171|PMID:32880476|PMID:32964742
12146852	TTN	titin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:0110308	hypertrophic cardiomyopathy 2		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 2	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12146852	TTN	titin	gene	DOID:0110315	hypertrophic cardiomyopathy 9		ISO	RGD:1605120	D	RGD:7240710	20180130	OMIM			
12146852	TTN	titin	gene	DOID:0110315	hypertrophic cardiomyopathy 9		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 9 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 9	PMID:17576681|PMID:18414213|PMID:22335739|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24082139|PMID:24558114|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:27493940|PMID:27869827|PMID:28424332|PMID:28492532|PMID:30535219|PMID:30847666|PMID:31691645|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33552729|PMID:35177841|PMID:37091313|PMID:37652022|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1605120	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:17576681|PMID:21520333|PMID:22335739|PMID:23418287|PMID:23861362|PMID:23975875|PMID:25448463|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:33996946|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742
12146852	TTN	titin	gene	DOID:0110430	dilated cardiomyopathy 1G		ISO	RGD:1605120	D	RGD:7240710	20180130	OMIM			
12146852	TTN	titin	gene	DOID:0110430	dilated cardiomyopathy 1G		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1G | ClinVar Annotator: match by term: Dilated cardiomyopathy 1G	PMID:10051295|PMID:11788824|PMID:11846417|PMID:17576681|PMID:18414213|PMID:20890277|PMID:21572417|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23297410|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24319099|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26315439|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27194543|PMID:27273923|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28295036|PMID:28424332|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:28851873|PMID:28941705|PMID:29263846|PMID:29540472|PMID:29691892|PMID:29758562|PMID:29792937|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30333491|PMID:30429050|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31402444|PMID:31539150|PMID:31577830|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31983221|PMID:32039858|PMID:32343762|PMID:32371228|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33060286|PMID:33106378|PMID:33226272|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34135346|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34731013|PMID:34790974|PMID:34940998|PMID:35063694|PMID:35177841|PMID:35200695|PMID:35207729|PMID:36264615|PMID:36781956|PMID:36977548|PMID:37091313|PMID:37279760|PMID:37576110|PMID:37652022|PMID:37904629|PMID:38254962|PMID:38337354|PMID:38430701|PMID:38438525|PMID:38849547|PMID:39020067|PMID:39198997|PMID:39277846|PMID:39472908|PMID:39730912|PMID:39844436|PMID:39968638|PMID:9536098
12146852	TTN	titin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:31691645|PMID:32964742|PMID:35177841|PMID:38849547
12146852	TTN	titin	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	
12146852	TTN	titin	gene	DOID:0110633	rigid spine muscular dystrophy 1		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Classic multiminicore myopathy	PMID:25741868
12146852	TTN	titin	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:0110957	Gaucher's disease type I		ISO	RGD:1605120	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: GD I	PMID:25741868
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:7240710	20180718	OMIM			
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37091313|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: Tibial muscular dystrophy, tardive | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26320847|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: Tibial muscular dystrophy, tardive | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36693943|PMID:36703207|PMID:36937954|PMID:37091313|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37549721|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26320847|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207|PMID:36781956|PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37549721|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26320847|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207|PMID:36781956|PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26320847|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:27981572|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30770808|PMID:30816495|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207|PMID:36781956|PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:39198981|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:12891679|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19477645|PMID:19608031|PMID:19911250|PMID:20301498|PMID:20571043|PMID:20708934|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25157032|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25877298|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26320847|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:27981572|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30770808|PMID:30816495|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31264976|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207|PMID:36781956|PMID:36937954|PMID:37091313|PMID:37198425|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37725123|PMID:37904629|PMID:37907184|PMID:38655354|PMID:38689299|PMID:38813989|PMID:39020067|PMID:39198981|PMID:39825153|PMID:9536098
12146852	TTN	titin	gene	DOID:0111078	tibial muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tibial muscular dystrophy | ClinVar Annotator: match by term: UDD Myopathy | ClinVar Annotator: match by term: Udd Distal Myopathy	PMID:17576681|PMID:18414213|PMID:20890277|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24082139|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26773040|PMID:27273923|PMID:27493940|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28424332|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:29263846|PMID:29970176|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31691645|PMID:31983221|PMID:32039858|PMID:32343762|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33226272|PMID:33393119|PMID:33449170|PMID:33552729|PMID:33874732|PMID:34426522|PMID:35177841|PMID:35200695|PMID:35207729|PMID:36781956|PMID:37091313|PMID:37652022|PMID:37904629|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:7240710	20190703	OMIM			
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29997562|PMID:30086531|PMID:30365001|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31983221|PMID:32246154|PMID:32746448|PMID:32934002|PMID:33297573|PMID:33449170|PMID:34137518|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37091313|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:10053013|PMID:10462489|PMID:11310621|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:16084088|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19608031|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:22577218|PMID:22577220|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23514108|PMID:23518707|PMID:23606733|PMID:23620651|PMID:23675308|PMID:23757202|PMID:23852418|PMID:23861362|PMID:23975875|PMID:23995273|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24384345|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24781210|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25783436|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26269091|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26518445|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29382405|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:29997562|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30666435|PMID:30724488|PMID:30770808|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31618753|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32934002|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34756330|PMID:34782032|PMID:34839411|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36685919|PMID:36693943|PMID:36937954|PMID:37091313
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary myopathy with early respiratory failure | ClinVar Annotator: match by term: MYOPATHY, DISTAL, WITH EARLY RESPIRATORY FAILURE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:37291118|PMID:37549721|PMID:38540378|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:17576681|PMID:18414213|PMID:20890277|PMID:21520333|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24082139|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25447171|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26701604|PMID:26773040|PMID:27273923|PMID:27493940|PMID:27662471|PMID:27854218|PMID:27854229|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28424332|PMID:28492532|PMID:28606400|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29970176|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31691645|PMID:31983221|PMID:32039858|PMID:32343762|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33297573|PMID:33393119|PMID:33449170|PMID:34315225|PMID:34426522|PMID:34731013|PMID:35177841|PMID:35200695|PMID:35207729|PMID:37091313|PMID:37652022|PMID:37926714|PMID:38689299|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0111188	myofibrillar myopathy 9		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EDSTROM MYOPATHY | ClinVar Annotator: match by term: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE | ClinVar Annotator: match by term: MYOPATHY, PROXIMAL, WITH EARLY RESPIRATORY MUSCLE INVOLVEMENT | ClinVar Annotator: match by term: Myopathy, distal, with early respiratory failure, autosomal dominant | ClinVar Annotator: match by term: Myopathy, myofibrillar, 9, with early respiratory failure	PMID:17576681|PMID:18414213|PMID:20890277|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24082139|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25889363|PMID:25898921|PMID:25979592|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26773040|PMID:27273923|PMID:27493940|PMID:27868399|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28424332|PMID:28492532|PMID:28600387|PMID:28750076|PMID:28771489|PMID:29263846|PMID:29691892|PMID:29970176|PMID:30535219|PMID:30847666|PMID:31028938|PMID:31691645|PMID:32039858|PMID:32343762|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33226272|PMID:33393119|PMID:33449170|PMID:33552729|PMID:33874732|PMID:34426522|PMID:35177841|PMID:35200695|PMID:35207729|PMID:37091313|PMID:37652022|PMID:37904629|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:0111217	autosomal dominant centronuclear myopathy		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal dominant centronuclear myopathy	PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:33226272|PMID:33449170
12146852	TTN	titin	gene	DOID:0111223	centronuclear myopathy 1		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 3	PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:33226272|PMID:33449170
12146852	TTN	titin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:34790974|PMID:39277846
12146852	TTN	titin	gene	DOID:10376	amblyopia		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	PMID:25741868
12146852	TTN	titin	gene	DOID:10534	stomach cancer		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:10907	microcephaly		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:1115	sarcoma		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12146852	TTN	titin	gene	DOID:11162	respiratory failure		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:34790974|PMID:39277846
12146852	TTN	titin	gene	DOID:11695	portal vein thrombosis		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal vein thrombosis	PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:31112426|PMID:31983221|PMID:32964742|PMID:37652022
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29970176|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:34137518
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27400856|PMID:27418678|PMID:27585509|PMID:27588451|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28333919|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:29099038|PMID:29179779|PMID:29221435|PMID:29361395|PMID:29540445|PMID:29590070|PMID:29961767|PMID:29970176|PMID:30531895|PMID:30535219|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30993396|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:32246154|PMID:32746448|PMID:33449170|PMID:33692775|PMID:34137518
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30086531|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30564623|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31539150|PMID:31589614|PMID:31795264|PMID:31847883|PMID:31983221|PMID:32039858|PMID:32235935|PMID:32246154|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32964742|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33552729|PMID:33692775|PMID:33874732|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21270786|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25974703|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34540771|PMID:35207729|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:36005429|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35741838|PMID:36005429|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:10462489|PMID:11717165|PMID:11846417|PMID:12145747|PMID:12669942|PMID:15802564|PMID:17344846|PMID:17444505|PMID:1745277|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21617319|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23518707|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25741905|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26573135|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36264615|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37091313|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34731013|PMID:34756330|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:37091313|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31395899|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33552729|PMID:33692775|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34756330|PMID:34782032|PMID:34839411|PMID:34935411|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36693943|PMID:36937954|PMID:37091313|PMID:37291118|PMID:37549721|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32403337|PMID:32528171|PMID:32746448|PMID:32778822|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36693943|PMID:36703207|PMID:36937954|PMID:37091313|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37549721
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37549721|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:12145747|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20301498|PMID:20708934|PMID:20890277|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24892279|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25556389|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28487569|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32246154|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:36264615|PMID:36293497|PMID:36396199|PMID:36693943|PMID:36703207|PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250617	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:10053013|PMID:11846417|PMID:12145747|PMID:15802564|PMID:17344846|PMID:17576681|PMID:18414213|PMID:18948003|PMID:19911250|PMID:20301498|PMID:20708934|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24011988|PMID:24033266|PMID:24055113|PMID:24082139|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24315344|PMID:24319099|PMID:24395473|PMID:24440382|PMID:24444549|PMID:24459294|PMID:24476948|PMID:24503780|PMID:24558114|PMID:24569025|PMID:24575448|PMID:24578547|PMID:24636144|PMID:24884718|PMID:24980681|PMID:25016126|PMID:25037085|PMID:25145518|PMID:25163546|PMID:25214167|PMID:25253871|PMID:25326635|PMID:25332820|PMID:25363768|PMID:25447171|PMID:25448463|PMID:25498755|PMID:25500009|PMID:25589632|PMID:25626705|PMID:25739468|PMID:25741868|PMID:25772186|PMID:25825243|PMID:25889363|PMID:25898921|PMID:25957634|PMID:25979592|PMID:25987458|PMID:26265630|PMID:26272908|PMID:26383259|PMID:26467025|PMID:26473617|PMID:26498160|PMID:26516846|PMID:26522830|PMID:26559152|PMID:26567375|PMID:26597493|PMID:26627873|PMID:26662719|PMID:26676851|PMID:26701604|PMID:26718681|PMID:26735901|PMID:26777568|PMID:27040692|PMID:27066507|PMID:27066551|PMID:27149842|PMID:27194543|PMID:27273923|PMID:27302369|PMID:27321809|PMID:27375234|PMID:27400856|PMID:27418678|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27566442|PMID:27585509|PMID:27588451|PMID:27650965|PMID:27662471|PMID:27788187|PMID:27796757|PMID:27813223|PMID:27843123|PMID:27854218|PMID:27854229|PMID:27863505|PMID:27868399|PMID:27869827|PMID:27930701|PMID:27959697|PMID:28045975|PMID:28138913|PMID:28166282|PMID:28202948|PMID:28252636|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28403181|PMID:28416588|PMID:28424332|PMID:28492532|PMID:28578331|PMID:28600387|PMID:28606400|PMID:28611029|PMID:28704380|PMID:28716623|PMID:28750076|PMID:28767663|PMID:28771489|PMID:28781516|PMID:28798025|PMID:28822653|PMID:28831623|PMID:28857138|PMID:29099038|PMID:29109008|PMID:29179779|PMID:29221435|PMID:29263846|PMID:29361395|PMID:29386531|PMID:29420653|PMID:29435569|PMID:29447731|PMID:29511324|PMID:29540445|PMID:29590070|PMID:29691892|PMID:29761117|PMID:29773157|PMID:29892087|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29988065|PMID:30021846|PMID:30086531|PMID:30109841|PMID:30238059|PMID:30348779|PMID:30365001|PMID:30371277|PMID:30415094|PMID:30453078|PMID:30467950|PMID:30531895|PMID:30535219|PMID:30536954|PMID:30564623|PMID:30571272|PMID:30609409|PMID:30609410|PMID:30615648|PMID:30656044|PMID:30662066|PMID:30724488|PMID:30816495|PMID:30847666|PMID:30924900|PMID:30959811|PMID:30985088|PMID:30993396|PMID:31028938|PMID:31088516|PMID:31112426|PMID:31127727|PMID:31215789|PMID:31216868|PMID:31251381|PMID:31273342|PMID:31395899|PMID:31402444|PMID:31407473|PMID:31481236|PMID:31489791|PMID:31514951|PMID:31539150|PMID:31561939|PMID:31589614|PMID:31638414|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31737537|PMID:31795264|PMID:31847883|PMID:31879508|PMID:31903434|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32403337|PMID:32528171|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32880476|PMID:32901917|PMID:32964742|PMID:33106378|PMID:33179747|PMID:33226272|PMID:33297573|PMID:33373724|PMID:33393119|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33540853|PMID:33552729|PMID:33692775|PMID:33820833|PMID:33874732|PMID:33906374|PMID:33996946|PMID:34036930|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34670883|PMID:34731013|PMID:34740919|PMID:34756330|PMID:34782032|PMID:34790974|PMID:34839411|PMID:34935411|PMID:35026164|PMID:35081925|PMID:35177841|PMID:35200695|PMID:35207729|PMID:35628876|PMID:35629941|PMID:35653365|PMID:35741838|PMID:36005429|PMID:36166435|PMID:36264615|PMID:36293497
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20250617	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness | ClinVar Annotator: match by term: Distal myopathy Markesbery-Griggs type | ClinVar Annotator: match by term: MYOPATHY, LATE DISTAL HEREDITARY	PMID:36396199|PMID:36693943|PMID:36703207|PMID:36937954|PMID:37091313|PMID:37199186|PMID:37291118|PMID:37301943|PMID:37328711|PMID:37342443|PMID:37548861|PMID:37549721|PMID:37614113|PMID:37652022|PMID:37725123|PMID:37904629|PMID:38655354|PMID:38689299|PMID:39198981|PMID:9536098
12146852	TTN	titin	gene	DOID:11720	distal myopathy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal myopathy	
12146852	TTN	titin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:11830	myopia		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:33449170|PMID:34790974|PMID:39277846
12146852	TTN	titin	gene	DOID:11836	clubfoot		ISO	RGD:1605120	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
12146852	TTN	titin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:23975875|PMID:24033266|PMID:24503780|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:28600387|PMID:32964742|PMID:33449170
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30615648|PMID:30681174|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32233023|PMID:32235935|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24395473|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28138913|PMID:28256728|PMID:28416588|PMID:28492532|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32964742|PMID:33106378|PMID:33874732|PMID:34495297|PMID:34540771|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28941705|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33874732|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29361395|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:35177841|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26639818|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34667957|PMID:34756330|PMID:34782754|PMID:34952434|PMID:35027292|PMID:35177841|PMID:35629941|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31983221|PMID:32039858|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:36277766|PMID:36637017|PMID:38429495|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:36277766|PMID:36637017|PMID:37652022|PMID:38429495|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:36277766|PMID:36637017|PMID:37091313|PMID:37652022|PMID:38429495|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25741918|PMID:25741919|PMID:25741920|PMID:25741921|PMID:25741922|PMID:25741923|PMID:25741924|PMID:25741925|PMID:25741926|PMID:25741927|PMID:25741928|PMID:25741929|PMID:25741930|PMID:25741931|PMID:25741932|PMID:25741933|PMID:25741934|PMID:25741935|PMID:25741936|PMID:25741937|PMID:25741938|PMID:25741939|PMID:25741942|PMID:25741943|PMID:25741944|PMID:25741945|PMID:25741946|PMID:25741947|PMID:25741948|PMID:25741949|PMID:25741950|PMID:25741951|PMID:25741952|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30333491|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:36277766|PMID:36637017|PMID:37091313|PMID:37652022|PMID:38429495|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25741918|PMID:25741919|PMID:25741920|PMID:25741921|PMID:25741922|PMID:25741923|PMID:25741924|PMID:25741925|PMID:25741926|PMID:25741927|PMID:25741928|PMID:25741929|PMID:25741930|PMID:25741931|PMID:25741932|PMID:25741933|PMID:25741934|PMID:25741935|PMID:25741936|PMID:25741937|PMID:25741938|PMID:25741939|PMID:25741942|PMID:25741943|PMID:25741944|PMID:25741945|PMID:25741946|PMID:25741947|PMID:25741948|PMID:25741949|PMID:25741950|PMID:25741951|PMID:25741952|PMID:25898921|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30354343|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31216868|PMID:31251381|PMID:31286020|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:34008412|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34295493|PMID:34315225|PMID:34426522|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36264615|PMID:36277766|PMID:36396199|PMID:36637017|PMID:36685919|PMID:37091313|PMID:37652022|PMID:38429495|PMID:38438525|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25741918|PMID:25741919|PMID:25741920|PMID:25741921|PMID:25741922|PMID:25741923|PMID:25741924|PMID:25741925|PMID:25741926|PMID:25741927|PMID:25741928|PMID:25741929|PMID:25741930|PMID:25741931|PMID:25741932|PMID:25741933|PMID:25741934|PMID:25741935|PMID:25741936|PMID:25741937|PMID:25741938|PMID:25741939|PMID:25741942|PMID:25741943|PMID:25741944|PMID:25741945|PMID:25741946|PMID:25741947|PMID:25741948|PMID:25741949|PMID:25741950|PMID:25741951|PMID:25741952|PMID:25898921|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30354343|PMID:30365001|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31216868|PMID:3125138|PMID:31251381|PMID:31286020|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34008412|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34295493|PMID:34315225|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36138163|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:36637017|PMID:36685919|PMID:37066920|PMID:37091313|PMID:37279760|PMID:37652022|PMID:38429495|PMID:38438525|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24105469|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25741918|PMID:25741919|PMID:25741920|PMID:25741921|PMID:25741922|PMID:25741923|PMID:25741924|PMID:25741925|PMID:25741926|PMID:25741927|PMID:25741928|PMID:25741929|PMID:25741930|PMID:25741931|PMID:25741932|PMID:25741933|PMID:25741934|PMID:25741935|PMID:25741936|PMID:25741937|PMID:25741938|PMID:25741939|PMID:25741942|PMID:25741943|PMID:25741944|PMID:25741945|PMID:25741946|PMID:25741947|PMID:25741948|PMID:25741949|PMID:25741950|PMID:25741951|PMID:25741952|PMID:25898921|PMID:25987458|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30354343|PMID:30365001|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31216868|PMID:3125138|PMID:31251381|PMID:31286020|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31587567|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34008412|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34295493|PMID:34315225|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36138163|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:36637017|PMID:36685919|PMID:37066920|PMID:37091313|PMID:37279760|PMID:37614113|PMID:37652022|PMID:38412038|PMID:38429495|PMID:38438525|PMID:39277846|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250513	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:16733766|PMID:17344846|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23418287|PMID:23446887|PMID:23478172|PMID:23486992|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24119082|PMID:24231549|PMID:24271327|PMID:24319099|PMID:24395473|PMID:24459294|PMID:24503780|PMID:24569025|PMID:24578547|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25214167|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25741918|PMID:25741919|PMID:25741920|PMID:25741921|PMID:25741922|PMID:25741923|PMID:25741924|PMID:25741925|PMID:25741926|PMID:25741927|PMID:25741928|PMID:25741929|PMID:25741930|PMID:25741931|PMID:25741932|PMID:25741933|PMID:25741934|PMID:25741935|PMID:25741936|PMID:25741937|PMID:25741938|PMID:25741939|PMID:25741942|PMID:25741943|PMID:25741944|PMID:25741945|PMID:25741946|PMID:25741947|PMID:25741948|PMID:25741949|PMID:25741950|PMID:25741951|PMID:25741952|PMID:25898921|PMID:25987458|PMID:26084686|PMID:26272908|PMID:26315439|PMID:26406308|PMID:26467025|PMID:26516846|PMID:26627873|PMID:26639818|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:26899768|PMID:27066507|PMID:27066551|PMID:27159402|PMID:27194543|PMID:27437900|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27588451|PMID:27662471|PMID:27796757|PMID:27813223|PMID:27854218|PMID:27869827|PMID:27886618|PMID:27930701|PMID:28045975|PMID:28087566|PMID:28135719|PMID:28138913|PMID:28255936|PMID:28256728|PMID:28295036|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28611029|PMID:28716623|PMID:28771489|PMID:28798025|PMID:28822653|PMID:28851873|PMID:28877744|PMID:28941705|PMID:29029073|PMID:29093449|PMID:29253866|PMID:29361395|PMID:29377983|PMID:29435569|PMID:29447731|PMID:29540472|PMID:29691892|PMID:29773157|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30012837|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30354343|PMID:30365001|PMID:30371277|PMID:30471092|PMID:30535219|PMID:30536954|PMID:30571272|PMID:30609409|PMID:30615648|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31127727|PMID:31216868|PMID:3125138|PMID:31251381|PMID:31286020|PMID:31317183|PMID:31333075|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31568572|PMID:31587567|PMID:31618753|PMID:31660661|PMID:31691645|PMID:31712709|PMID:31727422|PMID:31737537|PMID:31931689|PMID:31980526|PMID:31983221|PMID:32039858|PMID:32123317|PMID:32160020|PMID:32233023|PMID:32235935|PMID:32277046|PMID:32371228|PMID:32528171|PMID:32597815|PMID:32603605|PMID:32659924|PMID:32746448|PMID:32778822|PMID:32792077|PMID:32815318|PMID:32880476|PMID:32901917|PMID:32964742|PMID:32969603|PMID:32998006|PMID:33019804|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34008412|PMID:34011823|PMID:34088380|PMID:34106991|PMID:34135346|PMID:34137518|PMID:34295493|PMID:34315225|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34540771|PMID:34553419|PMID:34587765|PMID:34667957|PMID:34731015|PMID:34756330|PMID:34782754|PMID:34935411|PMID:34952434|PMID:35027292|PMID:35081925|PMID:35177841|PMID:35207729|PMID:35387801|PMID:35476365|PMID:35605965|PMID:35629941|PMID:35653365|PMID:36138163|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:36637017|PMID:36685919|PMID:37066920|PMID:37091313|PMID:37279760|PMID:37614113|PMID:37652022|PMID:38412038|PMID:38429495|PMID:38438525|PMID:39277846|PMID:39481677|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21270786|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23446887|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27194543|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27662471|PMID:27813223|PMID:27869827|PMID:27930701|PMID:27981572|PMID:28045975|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28851873|PMID:28941705|PMID:29029073|PMID:29540472|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30535219|PMID:30609409|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31587567|PMID:31691645|PMID:31737537|PMID:31983221|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34135346|PMID:34315225|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34553419|PMID:34667957|PMID:34935411|PMID:35177841|PMID:35207729|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:37066920|PMID:37091313|PMID:37279760|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39277846|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy	PMID:10051295|PMID:11788824|PMID:12145747|PMID:15802564|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21270786|PMID:21520333|PMID:21810661|PMID:22028589|PMID:22335739|PMID:22526018|PMID:23299917|PMID:23396983|PMID:23446887|PMID:23478172|PMID:23675308|PMID:23757202|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24503780|PMID:24667040|PMID:24980681|PMID:25163546|PMID:25179549|PMID:25326635|PMID:25326637|PMID:25448463|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26272908|PMID:26315439|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27066507|PMID:27066551|PMID:27194543|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27662471|PMID:27813223|PMID:27869827|PMID:27930701|PMID:27981572|PMID:28045975|PMID:28333919|PMID:28416588|PMID:28492532|PMID:28771489|PMID:28798025|PMID:28851873|PMID:28941705|PMID:29029073|PMID:29540472|PMID:29691892|PMID:29892087|PMID:29961767|PMID:29988065|PMID:30061524|PMID:30063764|PMID:30333491|PMID:30535219|PMID:30609409|PMID:30681174|PMID:30847666|PMID:31028938|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31402444|PMID:31514951|PMID:31539150|PMID:31587567|PMID:31618753|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31983221|PMID:32371228|PMID:32746448|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33820833|PMID:33874732|PMID:33996946|PMID:34135346|PMID:34137518|PMID:34315225|PMID:34426522|PMID:34461741|PMID:34495297|PMID:34553419|PMID:34667957|PMID:34935411|PMID:35177841|PMID:35207729|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:36685919|PMID:37066920|PMID:37091313|PMID:37279760|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39277846|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12145747|PMID:15802564|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21270786|PMID:21520333|PMID:22335739|PMID:22577215|PMID:23396983|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25326637|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26701604|PMID:26735901|PMID:26777568|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27869827|PMID:27981572|PMID:28045975|PMID:28416588|PMID:28492532|PMID:28851873|PMID:29540472|PMID:29961767|PMID:29988065|PMID:30535219|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31587567|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32371228|PMID:32597815|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33874732|PMID:34011823|PMID:34315225|PMID:34461741|PMID:35177841|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:37091313|PMID:37279760|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12145747|PMID:15802564|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:22335739|PMID:22577215|PMID:23396983|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24503780|PMID:25163546|PMID:25326637|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26701604|PMID:26735901|PMID:26777568|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27869827|PMID:28045975|PMID:28416588|PMID:28492532|PMID:28851873|PMID:29540472|PMID:29961767|PMID:29988065|PMID:30535219|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31587567|PMID:31691645|PMID:31727422|PMID:31983221|PMID:32371228|PMID:32597815|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33874732|PMID:34011823|PMID:34315225|PMID:34461741|PMID:35177841|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:37091313|PMID:37279760|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12145747|PMID:15802564|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:22335739|PMID:22526018|PMID:22577215|PMID:23396983|PMID:23446887|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24395473|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25326637|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26777568|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27869827|PMID:28045975|PMID:28416588|PMID:28492532|PMID:28851873|PMID:29540472|PMID:29961767|PMID:29988065|PMID:30333491|PMID:30535219|PMID:31028938|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31587567|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31983221|PMID:32343762|PMID:32371228|PMID:32597815|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34315225|PMID:34426522|PMID:34461741|PMID:35177841|PMID:35207729|PMID:36252119|PMID:36264615|PMID:36277766|PMID:36396199|PMID:37091313|PMID:37279760|PMID:37576110|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12145747|PMID:15802564|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22577215|PMID:23299917|PMID:23396983|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24395473|PMID:24503780|PMID:24667040|PMID:25163546|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26773040|PMID:27194543|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28851873|PMID:29540472|PMID:29691892|PMID:29892087|PMID:29961767|PMID:30333491|PMID:30535219|PMID:30681174|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31402444|PMID:31539150|PMID:31587567|PMID:31691645|PMID:31727422|PMID:31737537|PMID:31983221|PMID:32343762|PMID:32371228|PMID:32597815|PMID:32778822|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34315225|PMID:34461741|PMID:36264615|PMID:36277766|PMID:37279760|PMID:37576110|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39730912|PMID:39825153|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy | ClinVar Annotator: match by term: autosomal dominant dilated cardiomyopathy | ClinVar Annotator: match by term: dilated cardiomyopathy	PMID:12145747|PMID:15802564|PMID:16199547|PMID:17444505|PMID:17576681|PMID:18414213|PMID:18948003|PMID:21520333|PMID:21810661|PMID:22335739|PMID:22526018|PMID:22577215|PMID:23299917|PMID:23396983|PMID:23446887|PMID:23486992|PMID:23606733|PMID:23675308|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24055113|PMID:24395473|PMID:24503780|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26773040|PMID:26777568|PMID:27194543|PMID:27437901|PMID:27493940|PMID:27532257|PMID:27813223|PMID:27869827|PMID:27930701|PMID:28045975|PMID:28492532|PMID:28851873|PMID:29540472|PMID:29961767|PMID:29988065|PMID:30333491|PMID:30535219|PMID:31028938|PMID:31112426|PMID:31216868|PMID:31251381|PMID:31402444|PMID:31539150|PMID:31587567|PMID:31691645|PMID:31737537|PMID:31983221|PMID:32343762|PMID:32371228|PMID:32597815|PMID:32778822|PMID:32815318|PMID:32880476|PMID:32964742|PMID:32998006|PMID:33106378|PMID:33226272|PMID:33432171|PMID:33449170|PMID:33500567|PMID:33874732|PMID:33996946|PMID:34011823|PMID:34426522|PMID:34461741|PMID:35177841|PMID:35207729|PMID:36264615|PMID:36277766|PMID:37091313|PMID:37279760|PMID:37576110|PMID:37652022|PMID:38412038|PMID:38438525|PMID:39730912|PMID:39844436|PMID:9536098
12146852	TTN	titin	gene	DOID:1324	lung cancer		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:14717	centronuclear myopathy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Centronuclear myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:17576681|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:27493940|PMID:27869827|PMID:28492532|PMID:30192042|PMID:30609409|PMID:32778822|PMID:32964742|PMID:33449170|PMID:9536098
12146852	TTN	titin	gene	DOID:1596	depressive disorder		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25589632|PMID:27869827|PMID:28492532|PMID:32964742|PMID:33449170
12146852	TTN	titin	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	
12146852	TTN	titin	gene	DOID:1754	mitral valve stenosis		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral stenosis	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:1824	status epilepticus		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Status epilepticus	PMID:25741868
12146852	TTN	titin	gene	DOID:1909	melanoma		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12146852	TTN	titin	gene	DOID:1926	Gaucher's disease		ISO	RGD:1605120	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: GBA DEFICIENCY	PMID:25741868
12146852	TTN	titin	gene	DOID:2234	focal epilepsy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12146852	TTN	titin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27868399|PMID:28492532
12146852	TTN	titin	gene	DOID:2394	ovarian cancer		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12146852	TTN	titin	gene	DOID:2843	long QT syndrome		ISO	RGD:1605120	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27930701|PMID:28492532|PMID:29253866
12146852	TTN	titin	gene	DOID:2843	long QT syndrome		ISO	RGD:1605120	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:17344846|PMID:23861362|PMID:24033266|PMID:25145518|PMID:25741868|PMID:26467025|PMID:26567375|PMID:27854218|PMID:27930701|PMID:28492532|PMID:29253866
12146852	TTN	titin	gene	DOID:2843	long QT syndrome		ISO	RGD:1605120	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:21270786|PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27930701|PMID:27981572|PMID:28135719|PMID:28492532|PMID:31785789
12146852	TTN	titin	gene	DOID:2843	long QT syndrome		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT Syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26516846|PMID:27930701|PMID:28135719|PMID:28492532|PMID:31785789
12146852	TTN	titin	gene	DOID:3275	thymoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:37091313
12146852	TTN	titin	gene	DOID:3393	coronary artery disease		ISO	RGD:1605120	D	RGD:9068941	20200609	RGD			PMID:12221049|REF_RGD_ID:1580780
12146852	TTN	titin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12146852	TTN	titin	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Familial restrictive cardiomyopathy	PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572
12146852	TTN	titin	gene	DOID:4189	mutism		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mutism	PMID:25741868|PMID:37091313
12146852	TTN	titin	gene	DOID:422	congenital structural myopathy		ISO	RGD:1605120	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy | ClinVar Annotator: match by term: Myotubular myopathy	PMID:22335739|PMID:23975875|PMID:24033266|PMID:25326635|PMID:25589632|PMID:25741868|PMID:26467025|PMID:26701604|PMID:27437900|PMID:27437901|PMID:27532257|PMID:28492532|PMID:30609409|PMID:34935411
12146852	TTN	titin	gene	DOID:423	myopathy		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopathy | ClinVar Annotator: match by term: Skeletal myopathy	PMID:23975875|PMID:25589632|PMID:25741868|PMID:26467025|PMID:27869827|PMID:28492532|PMID:32964742
12146852	TTN	titin	gene	DOID:4362	cervical cancer		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:440	neuromuscular disease		ISO	RGD:1605120	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease	PMID:23975875|PMID:24033266|PMID:25589632|PMID:27869827|PMID:28492532|PMID:29691892|PMID:31053406|PMID:32964742
12146852	TTN	titin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:20890277|PMID:23861362|PMID:24033266|PMID:24459294|PMID:25626705|PMID:25741868|PMID:25979592|PMID:26467025|PMID:26773040|PMID:28492532
12146852	TTN	titin	gene	DOID:480	movement disease		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12146852	TTN	titin	gene	DOID:5041	esophageal cancer		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27868399|PMID:28492532
12146852	TTN	titin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12146852	TTN	titin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27868399|PMID:28492532
12146852	TTN	titin	gene	DOID:5844	myocardial infarction		ISO	RGD:621114	D	RGD:9068941	20200609	RGD			PMID:12221049|REF_RGD_ID:1580780
12146852	TTN	titin	gene	DOID:6000	congestive heart failure		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Congestive heart failure | ClinVar Annotator: match by term: Heart failure	PMID:23861362|PMID:24033266|PMID:24082139|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:32746448
12146852	TTN	titin	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:630	genetic disease		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease	
12146852	TTN	titin	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12146852	TTN	titin	gene	DOID:674	cleft palate		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12146852	TTN	titin	gene	DOID:767	muscular atrophy		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176|PMID:37091313
12146852	TTN	titin	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:28600387|PMID:29970176
12146852	TTN	titin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868|PMID:26467025
12146852	TTN	titin	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12146852	TTN	titin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:26467025
12146852	TTN	titin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:22335739|PMID:23396983|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:34790974|PMID:39277846
12146852	TTN	titin	gene	DOID:9001510	Funnel Chest		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:23396983|PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:37091313
12146852	TTN	titin	gene	DOID:9001716	Hip Contracture		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hip contracture	PMID:23861362|PMID:24033266|PMID:25741868
12146852	TTN	titin	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:25741868
12146852	TTN	titin	gene	DOID:9002521	Left Ventricular Noncompaction 2		ISO	RGD:1605120	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: LVNC2 | ClinVar Annotator: match by term: Left ventricular noncompaction 2	PMID:23975875|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32815318|PMID:32964742
12146852	TTN	titin	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:9003133	Hypertelorism		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12146852	TTN	titin	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non ischemic cardiomyopathy	PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
12146852	TTN	titin	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:37091313
12146852	TTN	titin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1605120	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26467025|PMID:26516846|PMID:27854218|PMID:28492532|PMID:29970176
12146852	TTN	titin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:17576681|PMID:22335739|PMID:23975875|PMID:25589632|PMID:25741868|PMID:27493940|PMID:27869827|PMID:28492532|PMID:29691892|PMID:32778822|PMID:32964742|PMID:34790974|PMID:39277846|PMID:9536098
12146852	TTN	titin	gene	DOID:9005616	Micrognathism		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:9006650	Anisocoria		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anisocoria	PMID:25741868
12146852	TTN	titin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:23396983|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:26516846|PMID:28492532
12146852	TTN	titin	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:621114	D	RGD:9068941	20200609	RGD			PMID:12221049|REF_RGD_ID:1580780
12146852	TTN	titin	gene	DOID:9007388	Heterochromia Iridis		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterochromia iridis	PMID:25741868
12146852	TTN	titin	gene	DOID:9007661	Dwarfism		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:17576681|PMID:25589632|PMID:25741868|PMID:27493940|PMID:28492532|PMID:32778822|PMID:9536098
12146852	TTN	titin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest	PMID:25741868|PMID:28492532
12146852	TTN	titin	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1605120	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:18414213|PMID:22335739|PMID:22526018|PMID:23396983|PMID:23446887|PMID:23861362|PMID:23975875|PMID:24033266|PMID:24980681|PMID:25163546|PMID:25589632|PMID:25741868|PMID:25898921|PMID:26467025|PMID:26516846|PMID:26701604|PMID:26735901|PMID:26777568|PMID:27813223|PMID:27869827|PMID:28492532|PMID:29961767|PMID:29988065|PMID:30535219|PMID:31028938|PMID:31577830|PMID:31691645|PMID:32815318|PMID:32964742|PMID:33106378|PMID:33226272|PMID:33874732|PMID:34426522|PMID:35177841|PMID:35207729|PMID:37091313
12146852	TTN	titin	gene	DOID:9008858	Arthrogryposis, Impaired Intellectual Development, and Seizures		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthrogryposis syndrome	
12146852	TTN	titin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12146852	TTN	titin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605120	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:22335739|PMID:23861362|PMID:23975875|PMID:24033266|PMID:25589632|PMID:25741868|PMID:26701604|PMID:28492532|PMID:37091313
12146852	TTN	titin	gene	DOID:936	brain disease		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12146852	TTN	titin	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12146852	TTN	titin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1605120	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:24033266|PMID:25589632|PMID:25741868|PMID:27869827|PMID:28492532|PMID:32964742|PMID:33226272|PMID:33449170|PMID:34553419|PMID:34935411|PMID:37066920|PMID:37461109
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0060949	3-hydroxyisobutryl-CoA hydrolase deficiency		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-hydroxyisobutyryl-CoA hydrolase deficiency	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0061028	Duane retraction syndrome 2		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome 2	PMID:27181683
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0061029	Duane retraction syndrome 3		ISO	RGD:732545	D	RGD:7240710	20200304	OMIM			
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0061029	Duane retraction syndrome 3		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DUANE RETRACTION SYNDROME 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness	PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27181683|PMID:27385948|PMID:28492532
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0080395	orofacial cleft 1		ISO	RGD:732545	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Orofacial cleft 1	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0080600	COVID-19		ISO	RGD:732545	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0111534	multicentric carpotarsal osteolysis syndrome		ISO	RGD:732545	D	RGD:7240710	20180130	OMIM			
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:0111534	multicentric carpotarsal osteolysis syndrome		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carpal osteolysis | ClinVar Annotator: match by term: MAFB-related condition | ClinVar Annotator: match by term: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | ClinVar Annotator: match by term: Multicentric carpo-tarsal osteolysis with or without nephropathy | ClinVar Annotator: match by term: OSTEOLYSIS, HEREDITARY, OF CARPAL BONES WITH OR WITHOUT NEPHROPATHY	PMID:20436469|PMID:22387013|PMID:23956186|PMID:24989131|PMID:25741868|PMID:27385948|PMID:28492532|PMID:29675035|PMID:30208859|PMID:34722426
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:1059	intellectual disability		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732546	D	RGD:9068941	20220825	MouseDO		OMIM:126800 | OMIM:604356	
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:1826	epilepsy		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:22387013|PMID:24989131|PMID:28492532
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:576	proteinuria		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:630	genetic disease		ISO	RGD:732545	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:9002008	BROWN SYNDROME		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brown syndrome	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:9005616	Micrognathism		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:9008305	Talipes Cavus		ISO	RGD:732545	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
12147171	MAFB	MAF bZIP transcription factor B	gene	DOID:9296	cleft lip		ISO	RGD:732545	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20436469
12147175	IRX3	iroquois homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147175	IRX3	iroquois homeobox 3	gene	DOID:1324	lung cancer		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147175	IRX3	iroquois homeobox 3	gene	DOID:3275	thymoma		ISO	RGD:1316613	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147175	IRX3	iroquois homeobox 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1316613	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147175	IRX3	iroquois homeobox 3	gene	DOID:850	lung disease		ISO	RGD:1316613	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21238641
12147212	EDA	ectodysplasin A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147212	EDA	ectodysplasin A	gene	DOID:0050591	tooth agenesis		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypodontia | ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: oligodontia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25333067|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147212	EDA	ectodysplasin A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:7240710	20180130	OMIM			
12147212	EDA	ectodysplasin A	gene	DOID:0111664	ectodermal dysplasia 1		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Christ-Siemens-Touraine syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED | ClinVar Annotator: match by term: Ectodermal dysplasia 1 | ClinVar Annotator: match by term: Ectodermal dysplasia 1, anhidrotic | ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia | ClinVar Annotator: match by term: X-linked hypohidrotic ectodermal dysplasia	PMID:10469321|PMID:10534613|PMID:10951256|PMID:11279189|PMID:11295832|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12932274|PMID:12947561|PMID:12949972|PMID:14656435|PMID:15461765|PMID:16199547|PMID:16583127|PMID:17256800|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18688569|PMID:18821982|PMID:19278982|PMID:19438931|PMID:19504606|PMID:19592680|PMID:19623212|PMID:19921643|PMID:19960895|PMID:20077893|PMID:20236127|PMID:202361270|PMID:20301291|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23687000|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24312213|PMID:24330993|PMID:24631698|PMID:24648697|PMID:24689965|PMID:24715423|PMID:24724966|PMID:25203534|PMID:25333067|PMID:25339629|PMID:25626993|PMID:25640679|PMID:25741868|PMID:25846883|PMID:26273176|PMID:26345974|PMID:26411740|PMID:26502894|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27264909|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28052341|PMID:28492532|PMID:29676859|PMID:29694819|PMID:30088137|PMID:30117778|PMID:30417976|PMID:30974434|PMID:31129666|PMID:31306530|PMID:31376704|PMID:31489414|PMID:31652981|PMID:31796081|PMID:31852928|PMID:31924237|PMID:32713954|PMID:33502802|PMID:33550332|PMID:33622384|PMID:33943035|PMID:34545288|PMID:34573371|PMID:34582123|PMID:34817077|PMID:34863015|PMID:34906502|PMID:35023123|PMID:35923710|PMID:36071541|PMID:37525042|PMID:38129747|PMID:38287639|PMID:40781288|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856
12147212	EDA	ectodysplasin A	gene	DOID:10754	otitis media		ISO	RGD:1557590	D	RGD:9068941	20200609	RGD			PMID:31028034|REF_RGD_ID:14398763
12147212	EDA	ectodysplasin A	gene	DOID:11155	hypohidrosis		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868
12147212	EDA	ectodysplasin A	gene	DOID:11830	myopia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:13714	anodontia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anodontia	PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:14693	Clouston syndrome		IAGP		D	RGD:12801476	20250716	OMIA		Hypohidrotic ectodermal dysplasia, X-linked, EDA-related	PMID:9419891|PMID:4055508|PMID:3710892|PMID:6746381|PMID:5462764|PMID:579352|PMID:15500478|PMID:15946744|PMID:16151697|PMID:17924345|PMID:20078794|PMID:21730053|PMID:19533784|PMID:23441037|PMID:27449516|PMID:30276836|PMID:30397018|PMID:31122682|PMID:32482291|PMID:34076266|PMID:34861369|PMID:37191329
12147212	EDA	ectodysplasin A	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:1348155	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
12147212	EDA	ectodysplasin A	gene	DOID:14793	hypohidrotic ectodermal dysplasia		ISO	RGD:1348155	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia	PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:12930312|PMID:12949972|PMID:14656435|PMID:15461765|PMID:15663448|PMID:16199547|PMID:17066260|PMID:17576681|PMID:17970812|PMID:18076698|PMID:18231121|PMID:18384562|PMID:18386312|PMID:18386315|PMID:18427821|PMID:18451855|PMID:18510547|PMID:18545687|PMID:18657636|PMID:18666859|PMID:18821982|PMID:19278982|PMID:19533796|PMID:19592680|PMID:19623212|PMID:19921643|PMID:20236127|PMID:20374512|PMID:20486090|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:22382802|PMID:22428923|PMID:22633615|PMID:22875504|PMID:23293949|PMID:23553579|PMID:23744313|PMID:23926003|PMID:23989902|PMID:23991204|PMID:24033266|PMID:24279917|PMID:24312213|PMID:24330993|PMID:24487376|PMID:24648697|PMID:24689965|PMID:24724966|PMID:25333067|PMID:25626993|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26634545|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27538153|PMID:27657131|PMID:28045201|PMID:28492532|PMID:29444360|PMID:30117778|PMID:31306530|PMID:31796081|PMID:31924237|PMID:8696334|PMID:9507389|PMID:9536098|PMID:9630076|PMID:9683615|PMID:9736768|PMID:9856856
12147212	EDA	ectodysplasin A	gene	DOID:1909	melanoma		ISO	RGD:1348155	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12147212	EDA	ectodysplasin A	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anhidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:10951256|PMID:11279189|PMID:11295832|PMID:11309369|PMID:11378824|PMID:11416205|PMID:15663448|PMID:16583127|PMID:18076698|PMID:18231121|PMID:18510547|PMID:19278982|PMID:20236127|PMID:20374512|PMID:20979233|PMID:21357618|PMID:21457804|PMID:22032522|PMID:23553579|PMID:24033266|PMID:24487376|PMID:25333067|PMID:25741868|PMID:26411740|PMID:26753551|PMID:27144394|PMID:28492532|PMID:31129666|PMID:33179236|PMID:33205897|PMID:33943035|PMID:36071541|PMID:36294409|PMID:36939501|PMID:38129747|PMID:41277651|PMID:9683615|PMID:9736768
12147212	EDA	ectodysplasin A	gene	DOID:4535	hypotrichosis		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotrichosis	PMID:25741868
12147212	EDA	ectodysplasin A	gene	DOID:630	genetic disease		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147212	EDA	ectodysplasin A	gene	DOID:9000641	Pain		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pain	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1348155	D	RGD:7240710	20180130	OMIM			
12147212	EDA	ectodysplasin A	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1348155	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: HYPODONTIA/OLIGODONTIA, X-LINKED, 1 | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, X-LINKED, 1 | ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1	PMID:11279189|PMID:11378824|PMID:11416205|PMID:12930312|PMID:14656435|PMID:16583127|PMID:17256800|PMID:18076698|PMID:18231121|PMID:18510547|PMID:18821982|PMID:19278982|PMID:19623212|PMID:20236127|PMID:20486090|PMID:20979233|PMID:21357618|PMID:22428923|PMID:23926003|PMID:23991204|PMID:24033266|PMID:24312213|PMID:24330993|PMID:25333067|PMID:25741868|PMID:26273176|PMID:26345974|PMID:26753551|PMID:27054699|PMID:27144394|PMID:27305980|PMID:27657131|PMID:28492532|PMID:30117778|PMID:31796081|PMID:34573371|PMID:35599849|PMID:38129747|PMID:8696334|PMID:9683615|PMID:9736768
12147212	EDA	ectodysplasin A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12147212	EDA	ectodysplasin A	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1348155	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 2	PMID:25741868|PMID:30526585
12147212	EDA	ectodysplasin A	gene	DOID:9003242	Paresthesia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paresthesia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:9003507	Premature Birth		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:9006065	Arthralgia		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:9006743	Spasm		ISO	RGD:1348155	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:16583127|PMID:18510547|PMID:19623212|PMID:24033266|PMID:25741868|PMID:28492532
12147212	EDA	ectodysplasin A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348155	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:11279189|PMID:12932274|PMID:16583127|PMID:18510547|PMID:25741868|PMID:27264909|PMID:28045201|PMID:33222196|PMID:33622384
12147212	EDA	ectodysplasin A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348155	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147234	DEFB119	defensin beta 119	gene	DOID:229	female reproductive system disease		ISO	RGD:1615624	D	RGD:9068941	20230202	MouseDO			
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:0060308	autosomal recessive intellectual developmental disorder		ISO	RGD:1603139	D	RGD:8554872	20260721	ClinVar		ClinVar Annotator: match by term: Autosomal recessive non-syndromic intellectual disability	PMID:30787422
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:1115	sarcoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1603139	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147238	MROH6	maestro heat like repeat family member 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603139	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:0080792	Treacher Collins syndrome 4		ISO	RGD:1348858	D	RGD:7240710	20200722	OMIM			
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:0080792	Treacher Collins syndrome 4		ISO	RGD:1348858	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: POLR1B-related condition | ClinVar Annotator: match by term: TREACHER COLLINS SYNDROME 4 | ClinVar Annotator: match by term: Treacher Collins syndrome 4	PMID:25741868
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:10534	stomach cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:1324	lung cancer		ISO	RGD:1348858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:1909	melanoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:4362	cervical cancer		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:5041	esophageal cancer		ISO	RGD:1348858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348858	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147254	POLR1B	RNA polymerase I subunit B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147281	LOC102156800	cyclin-I2	gene	DOID:1909	melanoma		ISO	RGD:2290194	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147281	LOC102156800	cyclin-I2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2290194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12147281	LOC102156800	cyclin-I2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147301	CAT	catalase	gene	DOID:0002116	pterygium		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:conjunctiva	PMID:18987486|REF_RGD_ID:9068921
12147301	CAT	catalase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147301	CAT	catalase	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26074427
12147301	CAT	catalase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11800590
12147301	CAT	catalase	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16081686
12147301	CAT	catalase	gene	DOID:0050853	chronic venous insufficiency		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma:	PMID:23182154|REF_RGD_ID:9479068
12147301	CAT	catalase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14580687
12147301	CAT	catalase	gene	DOID:0060180	colitis		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:21463646|REF_RGD_ID:5130869
12147301	CAT	catalase	gene	DOID:0070658	alcohol-associated liver disease	treatment	ISO	RGD:2279	D	RGD:9068941	20240406	RGD			PMID:28898587|PMID:8370342|REF_RGD_ID:405255646|REF_RGD_ID:405255658
12147301	CAT	catalase	gene	DOID:0080199	colorectal carcinoma	treatment	ISO	RGD:2279	D	RGD:9068941	20210611	RGD			PMID:29229353|REF_RGD_ID:127284843
12147301	CAT	catalase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29718361
12147301	CAT	catalase	gene	DOID:0080600	COVID-19		ISO	RGD:732740	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12147301	CAT	catalase	gene	DOID:0080652	calcium oxalate nephrolithiasis		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:21557843|REF_RGD_ID:7205663
12147301	CAT	catalase	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood:	PMID:20394549|REF_RGD_ID:9071200
12147301	CAT	catalase	gene	DOID:0081120	Graves ophthalmopathy	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:15158621|REF_RGD_ID:9086875
12147301	CAT	catalase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:15109710|REF_RGD_ID:8547516
12147301	CAT	catalase	gene	DOID:10247	pleurisy		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:19778612|REF_RGD_ID:5130749
12147301	CAT	catalase	gene	DOID:10300	Raynaud disease	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:decreased activity:serum:	PMID:17401513|REF_RGD_ID:9479162
12147301	CAT	catalase	gene	DOID:10316	pneumoconiosis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19273541|REF_RGD_ID:5130756
12147301	CAT	catalase	gene	DOID:10534	stomach cancer		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147301	CAT	catalase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:19293779|REF_RGD_ID:8158049
12147301	CAT	catalase	gene	DOID:1059	intellectual disability		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12147301	CAT	catalase	gene	DOID:10754	otitis media	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased activity:cochlea,serum:	PMID:22173336|REF_RGD_ID:7401215
12147301	CAT	catalase	gene	DOID:10763	hypertension		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:16716903|REF_RGD_ID:1580833
12147301	CAT	catalase	gene	DOID:10763	hypertension		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11479740|PMID:20667508|PMID:21593737|PMID:22228705
12147301	CAT	catalase	gene	DOID:10808	gastric ulcer		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:increased expression:stomach	PMID:17895592|REF_RGD_ID:5130860
12147301	CAT	catalase	gene	DOID:10808	gastric ulcer		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:1887894
12147301	CAT	catalase	gene	DOID:10825	essential hypertension		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:15735318|REF_RGD_ID:1581147
12147301	CAT	catalase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147301	CAT	catalase	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963755
12147301	CAT	catalase	gene	DOID:1115	sarcoma		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147301	CAT	catalase	gene	DOID:11396	pulmonary edema		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15612528
12147301	CAT	catalase	gene	DOID:11446	sciatic neuropathy		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased activity:sciatic nerve, spinal cord, dorsal root ganglion:	PMID:19675389|REF_RGD_ID:9479064
12147301	CAT	catalase	gene	DOID:11650	bronchopulmonary dysplasia		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:19693467|REF_RGD_ID:5130750
12147301	CAT	catalase	gene	DOID:11832	visual epilepsy		ISO	RGD:732740	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:18096215|PMID:19616071|PMID:20592767
12147301	CAT	catalase	gene	DOID:1210	optic neuritis	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated with Encephalomyelitis, Autoimmune, Experimental;	PMID:18055782|REF_RGD_ID:9068881
12147301	CAT	catalase	gene	DOID:1214	tympanosclerosis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:erythrocyte:	PMID:14710000|REF_RGD_ID:9479056
12147301	CAT	catalase	gene	DOID:12306	vitiligo		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:skin:	PMID:19439879|REF_RGD_ID:9479169
12147301	CAT	catalase	gene	DOID:12306	vitiligo	no_association	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter,exon: -89A>T rs7943316), 389C>T (rs769217)(human)	PMID:23868633|REF_RGD_ID:9479150
12147301	CAT	catalase	gene	DOID:12306	vitiligo	susceptibility	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:promoter,cds:-89A>T,389C>T(human)	PMID:20613769|REF_RGD_ID:9479149
12147301	CAT	catalase	gene	DOID:12361	Graves' disease	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:12919155|REF_RGD_ID:9068908
12147301	CAT	catalase	gene	DOID:12716	newborn respiratory distress syndrome	susceptibility	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:haplotype: :	PMID:22574884|REF_RGD_ID:8655661
12147301	CAT	catalase	gene	DOID:12849	autistic disorder		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15205966
12147301	CAT	catalase	gene	DOID:12858	Huntington's disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:19445928|REF_RGD_ID:5130752
12147301	CAT	catalase	gene	DOID:1289	neurodegenerative disease	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:26208597|REF_RGD_ID:11557995
12147301	CAT	catalase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:10652196|REF_RGD_ID:1581150
12147301	CAT	catalase	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:22443450|REF_RGD_ID:7205647
12147301	CAT	catalase	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:	PMID:24092995|REF_RGD_ID:9068931
12147301	CAT	catalase	gene	DOID:13208	background diabetic retinopathy		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated withDiabetes Mellitus, Type 2; mRNA,protein:decreased expression, decreased activity:blood,l serum:	PMID:24092995|REF_RGD_ID:9068931
12147301	CAT	catalase	gene	DOID:1324	lung cancer		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147301	CAT	catalase	gene	DOID:13241	Behcet's disease		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12074830
12147301	CAT	catalase	gene	DOID:13241	Behcet's disease		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:17206395|REF_RGD_ID:9068907
12147301	CAT	catalase	gene	DOID:13550	angle-closure glaucoma	severity	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:g.4760C>T(rs1001179)(human)	PMID:23961996|REF_RGD_ID:9068947
12147301	CAT	catalase	gene	DOID:13580	cholestasis		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:21339256|REF_RGD_ID:5130873
12147301	CAT	catalase	gene	DOID:13580	cholestasis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12147301	CAT	catalase	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12147301	CAT	catalase	gene	DOID:14323	Marfan syndrome		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12147301	CAT	catalase	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21854796
12147301	CAT	catalase	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:2279	D	RGD:9068941	20200903	RGD			PMID:29896255|REF_RGD_ID:38549578
12147301	CAT	catalase	gene	DOID:1470	major depressive disorder		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20471444
12147301	CAT	catalase	gene	DOID:1574	alcohol use disorder		ISO	RGD:2279	D	RGD:9068941	20240411	RGD		associated with cardiomyopathy	PMID:7195942|REF_RGD_ID:405255663
12147301	CAT	catalase	gene	DOID:1574	alcohol use disorder		ISO	RGD:2279	D	RGD:9068941	20240411	RGD		associated with diabetes; protein:decreased activity;testis, epididymis (rat)	PMID:25541261|REF_RGD_ID:405255664
12147301	CAT	catalase	gene	DOID:1574	alcohol use disorder		ISO	RGD:2279	D	RGD:9068941	20240411	RGD		associated with diabetes;protein:decreased activity:liver, kidney (rat)	PMID:21713042|REF_RGD_ID:405255660
12147301	CAT	catalase	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2279	D	RGD:9068941	20240411	RGD			PMID:22596042|REF_RGD_ID:405255659
12147301	CAT	catalase	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2279	D	RGD:9068941	20240411	RGD		associated with cognitive disorder; protein:altered activity:hippocampus (rat)	PMID:27367870|REF_RGD_ID:405255662
12147301	CAT	catalase	gene	DOID:1596	depressive disorder		ISO	RGD:732740	D	RGD:9068941	20210528	RGD		associated with gastric adenocarcinoma; protein:decreased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
12147301	CAT	catalase	gene	DOID:161	keratosis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14580687
12147301	CAT	catalase	gene	DOID:161	keratosis	susceptibility	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-262C>T(rs1001179)(human)	PMID:14580687|REF_RGD_ID:9479152
12147301	CAT	catalase	gene	DOID:1679	cystitis		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:urinary bladder	PMID:26109091|REF_RGD_ID:11035303
12147301	CAT	catalase	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:12499913|REF_RGD_ID:2317410
12147301	CAT	catalase	gene	DOID:1824	status epilepticus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15245787|PMID:15752349|PMID:17383094|PMID:18096215
12147301	CAT	catalase	gene	DOID:1909	melanoma		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147301	CAT	catalase	gene	DOID:2237	hepatitis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1937386
12147301	CAT	catalase	gene	DOID:2316	brain ischemia		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:21213399|REF_RGD_ID:5130891
12147301	CAT	catalase	gene	DOID:2316	brain ischemia		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17564305
12147301	CAT	catalase	gene	DOID:2527	nephrosis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		mRNA: decreased expression: glomerulus	PMID:20685819|REF_RGD_ID:7205671
12147301	CAT	catalase	gene	DOID:2582	acatalasia		IAGP		D	RGD:12801476	20230823	OMIA		Hypocatalasia	PMID:11137458|PMID:5308206|PMID:10661897|PMID:10591001|PMID:19122680|PMID:27525650|PMID:29708978|PMID:37582787
12147301	CAT	catalase	gene	DOID:2582	acatalasia		ISO	RGD:732740	D	RGD:7240710	20180130	OMIM			
12147301	CAT	catalase	gene	DOID:2582	acatalasia		ISO	RGD:732740	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACATALASEMIA, JAPANESE TYPE | ClinVar Annotator: match by term: Acatalasemia | ClinVar Annotator: match by term: Acatalasia | ClinVar Annotator: match by term: CAT-related condition	PMID:11197178|PMID:25741868|PMID:28492532
12147301	CAT	catalase	gene	DOID:2738	pseudoxanthoma elasticum	onset	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:c.-262C>T(rs1001179)(human)	PMID:17693525|REF_RGD_ID:8547520
12147301	CAT	catalase	gene	DOID:2841	asthma		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18048809
12147301	CAT	catalase	gene	DOID:2841	asthma		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-21A>T (human)	PMID:19373626|REF_RGD_ID:5130753
12147301	CAT	catalase	gene	DOID:2841	asthma		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-262C>T (human)	PMID:18048809|REF_RGD_ID:5130856
12147301	CAT	catalase	gene	DOID:2841	asthma		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:respiratory system fluid/secretion	PMID:16622028|REF_RGD_ID:5130867
12147301	CAT	catalase	gene	DOID:2841	asthma		ISO	RGD:737448	D	RGD:9068941	20200609	RGD		protein:decreased activity	PMID:16622028|REF_RGD_ID:5130867
12147301	CAT	catalase	gene	DOID:2841	asthma	severity	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased expression:erythrocyte	PMID:19475625|REF_RGD_ID:5130751
12147301	CAT	catalase	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:732740	D	RGD:9068941	20220610	RGD		protein:increased activity:larynx	PMID:8138195|REF_RGD_ID:152995273
12147301	CAT	catalase	gene	DOID:2987	familial Mediterranean fever	disease_progression	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:22135646|REF_RGD_ID:9480233
12147301	CAT	catalase	gene	DOID:3070	high grade glioma		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12147301	CAT	catalase	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:20080081|REF_RGD_ID:4293707
12147301	CAT	catalase	gene	DOID:3458	breast adenocarcinoma		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:25050522|REF_RGD_ID:9226881
12147301	CAT	catalase	gene	DOID:3491	Turner syndrome		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12147301	CAT	catalase	gene	DOID:3602	toxic encephalopathy		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum:	PMID:16938375|REF_RGD_ID:9068882
12147301	CAT	catalase	gene	DOID:3717	gastric adenocarcinoma		ISO	RGD:732740	D	RGD:9068941	20210507	RGD		protein:decreased expression:blood serum (human)	PMID:31396300|REF_RGD_ID:126908003
12147301	CAT	catalase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19684199
12147301	CAT	catalase	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:lung	PMID:21190578|REF_RGD_ID:5130199
12147301	CAT	catalase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11731445
12147301	CAT	catalase	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:20204550|REF_RGD_ID:9068926
12147301	CAT	catalase	gene	DOID:4362	cervical cancer		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147301	CAT	catalase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732740	D	RGD:9068941	20251106	CTD		CTD Direct Evidence: marker/mechanism	PMID:39294077
12147301	CAT	catalase	gene	DOID:4481	allergic rhinitis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29028686
12147301	CAT	catalase	gene	DOID:4483	rhinitis	treatment	ISO	RGD:737448	D	RGD:9068941	20200609	RGD		protein:increased activity:blood,nasal cavity mucosa:	PMID:21541033|REF_RGD_ID:9479054
12147301	CAT	catalase	gene	DOID:5199	ureteral obstruction		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:21305585|REF_RGD_ID:5130876
12147301	CAT	catalase	gene	DOID:520	aortic disease		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12147301	CAT	catalase	gene	DOID:5679	retinal disease	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD		associated with radiation injuries;protein:decreased activity:retina:	PMID:17514533|REF_RGD_ID:9107626
12147301	CAT	catalase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147301	CAT	catalase	gene	DOID:5844	myocardial infarction		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:14575298|REF_RGD_ID:1581148
12147301	CAT	catalase	gene	DOID:5844	myocardial infarction		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21600015
12147301	CAT	catalase	gene	DOID:591	phobic disorder		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15309392
12147301	CAT	catalase	gene	DOID:6000	congestive heart failure		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16105639
12147301	CAT	catalase	gene	DOID:6000	congestive heart failure		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:10618301|REF_RGD_ID:1581151
12147301	CAT	catalase	gene	DOID:631	fibromyalgia		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:mononuclear cell:	PMID:22532869|REF_RGD_ID:9479066
12147301	CAT	catalase	gene	DOID:6543	acne		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood:	PMID:16489259|REF_RGD_ID:9479167
12147301	CAT	catalase	gene	DOID:6543	acne		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:leukocyte:	PMID:11349462|REF_RGD_ID:9479168
12147301	CAT	catalase	gene	DOID:6543	acne	severity	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:23174057|REF_RGD_ID:9479743
12147301	CAT	catalase	gene	DOID:670	amphetamine abuse	treatment	ISO	RGD:2279	D	RGD:9068941	20240406	RGD			PMID:24445072|REF_RGD_ID:405255657
12147301	CAT	catalase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732740	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010264
12147301	CAT	catalase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated with liver cirrhosis with Hepatitis C;DNA:SNP:promoter:-262T>C (human)	PMID:21907168|REF_RGD_ID:27095879
12147301	CAT	catalase	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22450443
12147301	CAT	catalase	gene	DOID:783	end stage renal disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein: decreased expression :kidney	PMID:20007347|REF_RGD_ID:6892947
12147301	CAT	catalase	gene	DOID:783	end stage renal disease		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16518626|PMID:19420110
12147301	CAT	catalase	gene	DOID:7998	hyperthyroidism		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:19914224|REF_RGD_ID:9068475
12147301	CAT	catalase	gene	DOID:7998	hyperthyroidism		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23391542
12147301	CAT	catalase	gene	DOID:8295	scabies	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:17884035|REF_RGD_ID:9479747
12147301	CAT	catalase	gene	DOID:83	cataract		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:15295623|REF_RGD_ID:9068905
12147301	CAT	catalase	gene	DOID:83	cataract	no_association	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:11408722|REF_RGD_ID:9068911
12147301	CAT	catalase	gene	DOID:83	cataract	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased activity:lens:	PMID:21635889|REF_RGD_ID:9068909
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:20534640|REF_RGD_ID:5130202
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		Lung Injury	PMID:18793622|REF_RGD_ID:5130773
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		Lung Injury associated with Hyperoxia	PMID:19895324|REF_RGD_ID:5130747
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-330G>A (rs1001179) (human)	PMID:19897513|REF_RGD_ID:5130745
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:737448	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:19151196|REF_RGD_ID:5130768
12147301	CAT	catalase	gene	DOID:850	lung disease		ISO	RGD:737448	D	RGD:9068941	20200609	RGD		Lung Injury;protein:decreased expression:lung	PMID:21190578|REF_RGD_ID:5130199
12147301	CAT	catalase	gene	DOID:874	bacterial pneumonia		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, plasma	PMID:19842849|REF_RGD_ID:5130748
12147301	CAT	catalase	gene	DOID:8741	seborrheic dermatitis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:scalp:	PMID:24001414|REF_RGD_ID:9479166
12147301	CAT	catalase	gene	DOID:8893	psoriasis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12559600
12147301	CAT	catalase	gene	DOID:8893	psoriasis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:12602965|REF_RGD_ID:9479159
12147301	CAT	catalase	gene	DOID:8893	psoriasis	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:skin:	PMID:12165738|REF_RGD_ID:9479170
12147301	CAT	catalase	gene	DOID:8893	psoriasis	treatment	ISO	RGD:737448	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver:	PMID:24018880|REF_RGD_ID:9479744
12147301	CAT	catalase	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:21314438|REF_RGD_ID:5130875
12147301	CAT	catalase	gene	DOID:9000197	Edema		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19874808
12147301	CAT	catalase	gene	DOID:9000307	Presbycusis		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:11678164|REF_RGD_ID:8655636
12147301	CAT	catalase	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:732740	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12147301	CAT	catalase	gene	DOID:9000564	Prehypertension	susceptibility	ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:23096233|REF_RGD_ID:9068479
12147301	CAT	catalase	gene	DOID:9000918	Disease Progression		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10673208|PMID:11283936|PMID:16081686
12147301	CAT	catalase	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12538496|PMID:22580338|PMID:23518002
12147301	CAT	catalase	gene	DOID:9001472	Nasal Polyps		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:nasal concha:	PMID:16287205|REF_RGD_ID:9479048
12147301	CAT	catalase	gene	DOID:9001488	Human Influenza		ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:19959187|REF_RGD_ID:5130744
12147301	CAT	catalase	gene	DOID:9001488	Human Influenza		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:16804020|PMID:20653246|REF_RGD_ID:5130201|REF_RGD_ID:5130864
12147301	CAT	catalase	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression,decreased activity:retina:	PMID:22509733|REF_RGD_ID:9068919
12147301	CAT	catalase	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:2279	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
12147301	CAT	catalase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:21525431|REF_RGD_ID:7205665
12147301	CAT	catalase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		associated with experimentally induced diabetes	PMID:21686137|REF_RGD_ID:7205662
12147301	CAT	catalase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		rat gene in db/db mice	PMID:20299359|REF_RGD_ID:7205676
12147301	CAT	catalase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:22315314|REF_RGD_ID:7205651
12147301	CAT	catalase	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:23658840|PMID:23952340|REF_RGD_ID:9479063|REF_RGD_ID:9479069
12147301	CAT	catalase	gene	DOID:9002315	Kidney Calculi		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24360074
12147301	CAT	catalase	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:732740	D	RGD:9068941	20221208	CTD		CTD Direct Evidence: therapeutic	PMID:35792220
12147301	CAT	catalase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22450443
12147301	CAT	catalase	gene	DOID:9002910	Hearing Loss, Noise-Induced	severity	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:18212468|REF_RGD_ID:9190810
12147301	CAT	catalase	gene	DOID:9002910	Hearing Loss, Noise-Induced	susceptibility	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype::	PMID:17567781|REF_RGD_ID:9068906
12147301	CAT	catalase	gene	DOID:9002910	Hearing Loss, Noise-Induced	treatment	ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:23179931|REF_RGD_ID:9068923
12147301	CAT	catalase	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:732740	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:18353692|REF_RGD_ID:9479160
12147301	CAT	catalase	gene	DOID:9003106	Renoprival Hypertension		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:22733796|REF_RGD_ID:7206853
12147301	CAT	catalase	gene	DOID:9003507	Premature Birth		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055944
12147301	CAT	catalase	gene	DOID:9003566	Mesothelioma		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11283936
12147301	CAT	catalase	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:20493834|REF_RGD_ID:5130771
12147301	CAT	catalase	gene	DOID:9003676	Brain Hypoxia-Ischemia	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:21978706|REF_RGD_ID:9068474
12147301	CAT	catalase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:19196076|PMID:20888583|REF_RGD_ID:5130200|REF_RGD_ID:5130760
12147301	CAT	catalase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16682413|PMID:23743330|PMID:23875703|PMID:8215636
12147301	CAT	catalase	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:16718367|REF_RGD_ID:9479745
12147301	CAT	catalase	gene	DOID:9004203	Chromosome Breakage		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25172298
12147301	CAT	catalase	gene	DOID:9004464	Skin Neoplasms	disease_progression	ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:1747937|REF_RGD_ID:9479155
12147301	CAT	catalase	gene	DOID:9004464	Skin Neoplasms	treatment	ISO	RGD:737448	D	RGD:9068941	20200609	RGD			PMID:21517247|REF_RGD_ID:9479189
12147301	CAT	catalase	gene	DOID:9004484	Sepsis	severity	ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:15836852|REF_RGD_ID:9068893
12147301	CAT	catalase	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21749277|PMID:22580338
12147301	CAT	catalase	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15612528
12147301	CAT	catalase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:19298531|REF_RGD_ID:5130755
12147301	CAT	catalase	gene	DOID:9004673	Hearing Loss, Cisplatin-Induced		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:cochlear:	PMID:10220857|REF_RGD_ID:9197256
12147301	CAT	catalase	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17227729
12147301	CAT	catalase	gene	DOID:9004989	Protein Deficiency		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15865262
12147301	CAT	catalase	gene	DOID:9005452	Ureteral Calculi		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24360074
12147301	CAT	catalase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:20376213|REF_RGD_ID:5130772
12147301	CAT	catalase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2279	D	RGD:9068941	20240411	RGD		associated with alcohol use disorder; protein:decreased activity;testis, epididymis (rat)	PMID:25541261|REF_RGD_ID:405255664
12147301	CAT	catalase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12123627|PMID:15855331|PMID:20709041
12147301	CAT	catalase	gene	DOID:9005749	Necrosis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17309078|PMID:9548797
12147301	CAT	catalase	gene	DOID:9006024	Hypotension		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15612528
12147301	CAT	catalase	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased expression:nasal mucus	PMID:21471094|REF_RGD_ID:5130770
12147301	CAT	catalase	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:737448	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:21471094|REF_RGD_ID:5130770
12147301	CAT	catalase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147301	CAT	catalase	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:20204550|REF_RGD_ID:9068926
12147301	CAT	catalase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:21138988|REF_RGD_ID:7241599
12147301	CAT	catalase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750|PMID:25231249
12147301	CAT	catalase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20516118|PMID:21742780|PMID:23518002|PMID:25448439|PMID:27323401|PMID:28881718
12147301	CAT	catalase	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:19188683|REF_RGD_ID:5130761
12147301	CAT	catalase	gene	DOID:9007828	Abnormalities, Drug-Induced		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21252394|PMID:26074427
12147301	CAT	catalase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:11510883|REF_RGD_ID:1581149
12147301	CAT	catalase	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21600015
12147301	CAT	catalase	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19109989
12147301	CAT	catalase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12147301	CAT	catalase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322848
12147301	CAT	catalase	gene	DOID:9009039	Hyperemia		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10792963
12147301	CAT	catalase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27497885
12147301	CAT	catalase	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:9892499|REF_RGD_ID:9479188
12147301	CAT	catalase	gene	DOID:9182	pemphigus		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:increased activities:skin:	PMID:22738420|REF_RGD_ID:9479165
12147301	CAT	catalase	gene	DOID:9201	lichen planus		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:erythrocyte:	PMID:20372767|REF_RGD_ID:9479158
12147301	CAT	catalase	gene	DOID:9256	colorectal cancer		ISO	RGD:732740	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12147301	CAT	catalase	gene	DOID:9281	phenylketonuria		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain:	PMID:23232760|REF_RGD_ID:9068874
12147301	CAT	catalase	gene	DOID:9351	diabetes mellitus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11117918
12147301	CAT	catalase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15111504|PMID:15531508
12147301	CAT	catalase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma:	PMID:12357295|REF_RGD_ID:9068922
12147301	CAT	catalase	gene	DOID:9452	steatotic liver disease		ISO	RGD:2279	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:21452373|REF_RGD_ID:5130871
12147301	CAT	catalase	gene	DOID:9452	steatotic liver disease		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10860543
12147301	CAT	catalase	gene	DOID:9477	pulmonary embolism		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:2510358
12147301	CAT	catalase	gene	DOID:9637	stomatitis		ISO	RGD:2279	D	RGD:9068941	20200609	RGD			PMID:10569634|REF_RGD_ID:5130878
12147301	CAT	catalase	gene	DOID:9669	senile cataract		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:serum:	PMID:23781296|REF_RGD_ID:9068934
12147301	CAT	catalase	gene	DOID:9669	senile cataract	treatment	ISO	RGD:732740	D	RGD:9068941	20200609	RGD			PMID:16129095|REF_RGD_ID:10003112
12147301	CAT	catalase	gene	DOID:9719	neovascular inflammatory vitreoretinopathy		ISO	RGD:732740	D	RGD:9068941	20200609	RGD		protein:decreased activity:vitreous humor:	PMID:10450379|REF_RGD_ID:9068932
12147301	CAT	catalase	gene	DOID:9743	diabetic neuropathy		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10780678
12147301	CAT	catalase	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:732740	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15111504
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:3070	high grade glioma		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147318	RPS4X	ribosomal protein S4 X-linked	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353859	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12147329	SRP72	signal recognition particle 72	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:10534	stomach cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147329	SRP72	signal recognition particle 72	gene	DOID:1115	sarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:1324	lung cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147329	SRP72	signal recognition particle 72	gene	DOID:13580	cholestasis		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
12147329	SRP72	signal recognition particle 72	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:3070	high grade glioma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12147329	SRP72	signal recognition particle 72	gene	DOID:4362	cervical cancer		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147329	SRP72	signal recognition particle 72	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:4961	bone marrow disease		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bone marrow hypocellularity	PMID:25741868|PMID:28492532
12147329	SRP72	signal recognition particle 72	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12147329	SRP72	signal recognition particle 72	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12147329	SRP72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:7240710	20180130	OMIM			
12147329	SRP72	signal recognition particle 72	gene	DOID:9001587	Bone Marrow Failure Syndrome 1		ISO	RGD:1314481	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: BONE MARROW FAILURE SYNDROME 1 | ClinVar Annotator: match by term: Bone marrow failure syndrome 1 | ClinVar Annotator: match by term: SRP72-related condition	PMID:17576681|PMID:22541560|PMID:25741868|PMID:28492532|PMID:9536098
12147329	SRP72	signal recognition particle 72	gene	DOID:9004906	Congenital Bone Marrow Failure Syndromes		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12147329	SRP72	signal recognition particle 72	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12147329	SRP72	signal recognition particle 72	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147329	SRP72	signal recognition particle 72	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1314481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
12147329	SRP72	signal recognition particle 72	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314481	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12147352	KRT2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:7240710	20180130	OMIM			
12147352	KRT2	keratin 2	gene	DOID:0060877	bullous congenital ichthyosiform erythroderma		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ICHTHYOSIS BULLOSA OF SIEMENS | ClinVar Annotator: match by term: Ichthyosis bullosa of Siemens | ClinVar Annotator: match by term: KRT2-related condition | ClinVar Annotator: match by term: Superficial epidermolytic ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
12147352	KRT2	keratin 2	gene	DOID:0070523	peeling skin syndrome 4		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
12147352	KRT2	keratin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1342754	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147352	KRT2	keratin 2	gene	DOID:1115	sarcoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147352	KRT2	keratin 2	gene	DOID:1697	ichthyosis	susceptibility	ISO	RGD:1342754	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:7524919|REF_RGD_ID:1600192
12147352	KRT2	keratin 2	gene	DOID:2773	contact dermatitis		ISO	RGD:1342754	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12147352	KRT2	keratin 2	gene	DOID:3275	thymoma		ISO	RGD:1342754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147352	KRT2	keratin 2	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1342754	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratodermas	
12147352	KRT2	keratin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342754	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147352	KRT2	keratin 2	gene	DOID:630	genetic disease		ISO	RGD:1342754	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12147352	KRT2	keratin 2	gene	DOID:9004728	Ichthyosis Exfoliativa		ISO	RGD:1342754	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exfoliative ichthyosis	PMID:25741868|PMID:26581228|PMID:28492532|PMID:29444371|PMID:31953843|PMID:35887135|PMID:39434542
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354113	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1354113	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147364	NRBP1	nuclear receptor binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354113	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0050700	cardiomyopathy		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15231041
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0061286	glycogen storage disease XI		ISO	RGD:736025	D	RGD:7240710	20180130	OMIM			
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0061286	glycogen storage disease XI		ISO	RGD:736025	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XI | ClinVar Annotator: match by term: LACTATE DEHYDROGENASE A DEFICIENCY | ClinVar Annotator: match by term: LDHA-related condition	PMID:25741868|PMID:26838040|PMID:28492532
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:736025	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:36292720|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0080108	myoglobinuria		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21332213
12147399	LDHA	lactate dehydrogenase A	gene	DOID:0080600	COVID-19		ISO	RGD:736025	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12147399	LDHA	lactate dehydrogenase A	gene	DOID:10534	stomach cancer		ISO	RGD:736025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:1062	Fanconi syndrome		ISO	RGD:736025	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:16199547|PMID:17576681|PMID:1953713|PMID:1959923|PMID:2334430|PMID:25741868|PMID:26838040|PMID:28492532|PMID:3092644|PMID:36292720|PMID:7603529|PMID:7944300|PMID:8327147|PMID:9536098
12147399	LDHA	lactate dehydrogenase A	gene	DOID:10763	hypertension	treatment	ISO	RGD:2996	D	RGD:9068941	20230720	RGD			PMID:31572179|REF_RGD_ID:329956417
12147399	LDHA	lactate dehydrogenase A	gene	DOID:1793	pancreatic cancer		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29384525
12147399	LDHA	lactate dehydrogenase A	gene	DOID:3275	thymoma		ISO	RGD:736025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12147399	LDHA	lactate dehydrogenase A	gene	DOID:4195	hyperglycemia		ISO	RGD:2996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:beta cell	PMID:12438314|REF_RGD_ID:1600277
12147399	LDHA	lactate dehydrogenase A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:5041	esophageal cancer		ISO	RGD:736025	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12147399	LDHA	lactate dehydrogenase A	gene	DOID:5041	esophageal cancer		ISO	RGD:736025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:17576681|PMID:28492532|PMID:9536098
12147399	LDHA	lactate dehydrogenase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736025	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:5844	myocardial infarction		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3279722
12147399	LDHA	lactate dehydrogenase A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:630	genetic disease		ISO	RGD:736025	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12147399	LDHA	lactate dehydrogenase A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:2996	D	RGD:9068941	20200609	RGD			PMID:11085542|REF_RGD_ID:1600281
12147399	LDHA	lactate dehydrogenase A	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:736025	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12147399	LDHA	lactate dehydrogenase A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736025	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12147399	LDHA	lactate dehydrogenase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147399	LDHA	lactate dehydrogenase A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:0111901	heparin cofactor II deficiency		ISO	RGD:1322792	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Heparin cofactor II deficiency	PMID:25741868
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322792	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:10283	prostate cancer		ISO	RGD:1322792	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:10534	stomach cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:1115	sarcoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:1324	lung cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:1909	melanoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:3275	thymoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:4362	cervical cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1322792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147421	EIF4G3	eukaryotic translation initiation factor 4 gamma 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12147474	SNX1	sorting nexin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:10534	stomach cancer		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147474	SNX1	sorting nexin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147474	SNX1	sorting nexin 1	gene	DOID:1115	sarcoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147474	SNX1	sorting nexin 1	gene	DOID:1324	lung cancer		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147474	SNX1	sorting nexin 1	gene	DOID:1909	melanoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147474	SNX1	sorting nexin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12147474	SNX1	sorting nexin 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147474	SNX1	sorting nexin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147474	SNX1	sorting nexin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:7240710	20180130	OMIM			
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0110198	Charcot-Marie-Tooth disease recessive intermediate C		ISO	RGD:1603206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease recessive intermediate C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, recessive intermediate c	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:23844677|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28160950|PMID:28166811|PMID:28492532|PMID:31345219|PMID:31589614|PMID:31827005|PMID:33220101|PMID:34602496|PMID:38112783|PMID:9536098
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:7240710	20180130	OMIM			
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:0111213	autosomal recessive distal hereditary motor neuronopathy 4		ISO	RGD:1603206	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive lower motor neuron disease with childhood onset | ClinVar Annotator: match by term: Distal spinal muscular atrophy, autosomal recessive 4 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 4 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal recessive 4 | ClinVar Annotator: match by term: PLEKHG5-related condition	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:29177109|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:25741868
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603206	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:1596	depressive disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2030	anxiety disorder		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:2841	asthma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3070	high grade glioma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:16199547|PMID:17564964|PMID:23777631|PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:3275	thymoma		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:630	genetic disease		ISO	RGD:1603206	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17564964|PMID:17576681|PMID:23777631|PMID:25741868|PMID:26392352|PMID:26752306|PMID:28492532|PMID:31345219|PMID:31589614|PMID:31827005|PMID:38112783|PMID:9536098
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000227	Hypogonadism and Testicular Atrophy		ISO	RGD:1603206	D	RGD:8554872	20230627	ClinVar		ClinVar Annotator: match by term: Testicular atrophy	PMID:25741868|PMID:26392352|PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9001733	Tinnitus		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:26392352|PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9003507	Premature Birth		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9004930	Spinal Muscular Atrophy, Facioscapulohumeral Type		ISO	RGD:1603206	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005077	Joint Instability		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008023	Memory Disorders		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12147496	PLEKHG5	pleckstrin homology and RhoGEF domain containing G5	gene	DOID:9970	obesity		ISO	RGD:1603206	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12147532	TMEM183A	transmembrane protein 183A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320480	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147532	TMEM183A	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12147532	TMEM183A	transmembrane protein 183A	gene	DOID:10283	prostate cancer		ISO	RGD:1320480	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12147532	TMEM183A	transmembrane protein 183A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147546	PLEKHH1	pleckstrin homology, MyTH4 and FERM domain containing H1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1318086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050735	X-linked monogenic disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked inheritance	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060058	lymphoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24607389|PMID:24690944|PMID:25763846|PMID:26833328|PMID:28688840
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060249	scoliosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060260	ptosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060320	inguinal hernia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0080012	X-linked recessive disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: X-linked recessive inheritance	PMID:25741868|PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0080832	mild cognitive impairment		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: mild cognitive impairment	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0081337	congenital myopathy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0112025	female-restricted syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:7240710	20190315	OMIM			
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0112025	female-restricted syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED | ClinVar Annotator: match by term: Intellectual disability, X-linked 99, syndromic, female-restricted | ClinVar Annotator: match by term: USP9X-related condition	PMID:16005295|PMID:16757948|PMID:17352659|PMID:24607389|PMID:25741868|PMID:25763846|PMID:26833328|PMID:27501351|PMID:28377321|PMID:28492532|PMID:31443933|PMID:33298948|PMID:34008892|PMID:35227307|PMID:35253988|PMID:35982159|PMID:36939041|PMID:38438125
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0112026	non-syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:7240710	20180130	OMIM			
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:0112026	non-syndromic X-linked intellectual disability 99		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 99 | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED 99 | ClinVar Annotator: match by term: USP9X-related disorder | ClinVar Annotator: match by term: USP9X-related neurodevelopmental disorder	PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:31443933|PMID:33298948|PMID:35982159|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:10534	stomach cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868|PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency	PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:35982159
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1059	intellectual disability		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: intellectual disability	PMID:24607389|PMID:25741868|PMID:26833328|PMID:28377321|PMID:28492532|PMID:35982159
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:10892	hypospadias		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868|PMID:33298948
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:10907	microcephaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:10908	hydrocephalus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1115	sarcoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:11383	cryptorchidism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868|PMID:28492532|PMID:33298948|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:24607389|PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:11782	astigmatism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:11830	myopia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:12215	oligohydramnios		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1283	enterocele		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hernia	PMID:25741868|PMID:33298948
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1324	lung cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1657	ventricular septal defect		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1826	epilepsy		ISO	RGD:1606030	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:1909	melanoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:2975	cystic kidney disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:3070	high grade glioma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:3275	thymoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:4362	cervical cancer		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:5041	esophageal cancer		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:540	strabismus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:6132	bronchitis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchitis	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:630	genetic disease		ISO	RGD:1606030	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24607389|PMID:24690944|PMID:25741868|PMID:25763846|PMID:26833328|PMID:28377321|PMID:28492532|PMID:28688840|PMID:31443933|PMID:33023636|PMID:35982159
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:784	chronic kidney disease		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9001740	Blue Nevus		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arnold-Chiari type I malformation	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9003071	Postaxial Polydactyly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Postaxial polydactyly	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9003133	Hypertelorism		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9003507	Premature Birth		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9003816	Macrocephaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606030	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9004538	Hearing Loss		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9005077	Joint Instability		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility | ClinVar Annotator: match by term: Joint laxity	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24607389|PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	PMID:25741868|PMID:33298948
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24607389|PMID:25741868|PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9008023	Memory Disorders		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606030	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24607389|PMID:25741868|PMID:28492532|PMID:33298948|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868|PMID:28492532|PMID:36939041
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606030	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	
12147588	USP9X	ubiquitin specific peptidase 9 X-linked	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606030	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12147630	HSD17B6	hydroxysteroid 17-beta dehydrogenase 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147630	HSD17B6	hydroxysteroid 17-beta dehydrogenase 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147630	HSD17B6	hydroxysteroid 17-beta dehydrogenase 6	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1602229	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12147630	HSD17B6	hydroxysteroid 17-beta dehydrogenase 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69201	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736283	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (mouse)	PMID:29710028|REF_RGD_ID:25671411
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080745	polymyositis		ISO	RGD:69201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20427501
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs4646536	PMID:28590769|REF_RGD_ID:632517893
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080886	vitamin D-dependent rickets type 1A		IAGP		D	RGD:12801476	20230614	OMIA		Vitamin D-deficiency rickets, type IA	PMID:34323302|PMID:37293695
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080886	vitamin D-dependent rickets type 1A		ISO	RGD:69201	D	RGD:7240710	20180130	OMIM			
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080886	vitamin D-dependent rickets type 1A		ISO	RGD:69201	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CYP27B1-related condition | ClinVar Annotator: match by term: PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA | ClinVar Annotator: match by term: VITAMIN D DEPENDENCY, TYPE 1 | ClinVar Annotator: match by term: VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A | ClinVar Annotator: match by term: Vitamin D-dependent rickets, type 1A | ClinVar Annotator: match by term: vitamin D-dependent rickets, type 1A	PMID:10518789|PMID:10566658|PMID:11737215|PMID:12050193|PMID:17488797|PMID:20926527|PMID:21107545|PMID:22588163|PMID:23423976|PMID:24197768|PMID:25086671|PMID:25284246|PMID:25741868|PMID:26701718|PMID:27287609|PMID:27399352|PMID:28492532|PMID:30382318|PMID:32932410|PMID:34492747|PMID:34633109|PMID:34805638|PMID:35600579|PMID:35738466|PMID:36321535|PMID:36561972|PMID:36692815|PMID:40794449|PMID:9415400|PMID:9486994|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0080886	vitamin D-dependent rickets type 1A	treatment	ISO	XCO:0000545	D	RGD:9068941	20210326	RGD			PMID:32231239|REF_RGD_ID:32716373
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:0090109	autosomal dominant hypocalcemia		ISO	RGD:736283	D	RGD:9068941	20200609	RGD			PMID:11416220|REF_RGD_ID:734871
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:69201	D	RGD:9068941	20231130	RGD		associated with hypoxia; protein:increased expression:placenta (human)	PMID:22871339|REF_RGD_ID:401901075
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:69201	D	RGD:9068941	20231130	RGD		mRNA:increased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:10609	rickets		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rickets	PMID:25741868|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:11199	hypoparathyroidism		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism	PMID:22588163|PMID:24197768|PMID:25741868|PMID:28492532|PMID:34633109|PMID:36561972|PMID:36692815
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:11714	gestational diabetes		ISO	RGD:69201	D	RGD:9068941	20231130	RGD		mRNA:increased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:12678	hypercalcemia		ISO	RGD:69201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20427501
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:13543	hyperparathyroidism		ISO	RGD:736283	D	RGD:9068941	20200609	RGD			PMID:11416220|REF_RGD_ID:734871
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:69201	D	RGD:9068941	20260205	RGD		protein:decreased expression:respiratory system fluid/secretion	PMID:27795667|REF_RGD_ID:408427363
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:1909	melanoma		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2043	hepatitis B	severity	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: -1260C>A (rs10877012) (human)	PMID:22963605|REF_RGD_ID:25671410
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DISSEMINATED SCLEROSIS | ClinVar Annotator: match by term: Multiple sclerosis, susceptibility to	PMID:20926527|PMID:25741868|PMID:26701718|PMID:28492532|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2527	nephrosis		ISO	RGD:69192	D	RGD:9068941	20200609	RGD			PMID:1328752|REF_RGD_ID:2307321
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2841	asthma		ISO	RGD:69201	D	RGD:9068941	20260205	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:27026514|REF_RGD_ID:632518024
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2841	asthma	severity	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs10877012	PMID:29502202|REF_RGD_ID:632517895
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNPs, haplotype: :multiple	PMID:36839181|REF_RGD_ID:632518019
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2957	pulmonary tuberculosis	no_association	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs4646536	PMID:33882819|REF_RGD_ID:632518023
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2957	pulmonary tuberculosis	sexual_dimorphism	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNP:exon:rs118204011, rs118204012	PMID:38876405|REF_RGD_ID:632517894
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNP:exon:rs118204012	PMID:38876405|REF_RGD_ID:632517894
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:3021	acute kidney failure		ISO	RGD:69192	D	RGD:9068941	20200609	RGD			PMID:6223803|REF_RGD_ID:2307326
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:69201	D	RGD:9068941	20260205	RGD		DNA:SNPs, haplotypes:intron:rs4646536, rs703842	PMID:39583968|REF_RGD_ID:632518020
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:3275	thymoma		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:630	genetic disease		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20926527|PMID:22588163|PMID:25363760|PMID:25741868|PMID:28492532|PMID:30282619|PMID:36321535
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:83	cataract		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:25741868|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:893	Wilson disease		ISO	RGD:69192	D	RGD:9068941	20200609	RGD			PMID:3348368|REF_RGD_ID:2307322
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9002802	Acidoses		ISO	RGD:69192	D	RGD:9068941	20200609	RGD			PMID:6282936|REF_RGD_ID:2307324
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter: 1260C>A (rs10877012) (human)	PMID:21145801|REF_RGD_ID:25671413
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69192	D	RGD:9068941	20200609	RGD			PMID:3295473|REF_RGD_ID:2307313
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:69201	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:placenta	PMID:25448751|REF_RGD_ID:632518022
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9006359	Vitamin D Deficiency	susceptibility	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		associated with Diabetes, Gestational;DNA:polymorphism:promoter:g.-1260C>A	PMID:18476984|REF_RGD_ID:2307310
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:69201	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:nasal cavity mucosa	PMID:27618536|REF_RGD_ID:632517896
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:69192	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:69201	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736283	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney (mouse)	PMID:26476181|REF_RGD_ID:25671412
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9008214	Genu Valgum		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	PMID:25741868|PMID:9837822
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9008675	Dyskinesias		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Involuntary movements	PMID:22588163|PMID:24197768|PMID:25741868|PMID:28492532|PMID:34633109|PMID:36561972|PMID:36692815
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:69201	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:22588163|PMID:24197768|PMID:25741868|PMID:28492532|PMID:34633109|PMID:36561972|PMID:36692815
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:736283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:31175967|REF_RGD_ID:25671414
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		DNA, mRNA:polymorphism, decreased expression:promoter:g.-1260C>A (human)	PMID:17223345|REF_RGD_ID:2307312
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)	PMID:17606874|REF_RGD_ID:2307311
12147645	CYP27B1	cytochrome P450 family 27 subfamily B member 1	gene	DOID:9970	obesity	susceptibility	ISO	RGD:69201	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphisms:promoter, intron:g.-1260C>A, g.2838T>C (human)	PMID:17223345|REF_RGD_ID:2307312
12147658	SIX3	SIX homeobox 3	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:733474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12147658	SIX3	SIX homeobox 3	gene	DOID:0110872	holoprosencephaly 2		ISO	RGD:733474	D	RGD:7240710	20180130	OMIM			
12147658	SIX3	SIX homeobox 3	gene	DOID:0110872	holoprosencephaly 2		ISO	RGD:733474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HOLOPROSENCEPHALY 2 | ClinVar Annotator: match by term: Holoprosencephaly 2 | ClinVar Annotator: match by term: SIX3-related condition	PMID:10369266|PMID:14711609|PMID:15221788|PMID:15523651|PMID:17001667|PMID:17001700|PMID:18791198|PMID:18989625|PMID:19346217|PMID:19353631|PMID:20301702|PMID:20531442|PMID:21940735|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34008892|PMID:34421500|PMID:35951005
12147658	SIX3	SIX homeobox 3	gene	DOID:0111380	solitary median maxillary central incisor		ISO	RGD:733474	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Single upper central incisor	PMID:18791198|PMID:19346217|PMID:20157829|PMID:26080100|PMID:26467025|PMID:28492532
12147658	SIX3	SIX homeobox 3	gene	DOID:3883	Lynch syndrome		ISO	RGD:156450125	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Lynch syndrome	PMID:28492532
12147658	SIX3	SIX homeobox 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12147658	SIX3	SIX homeobox 3	gene	DOID:4621	holoprosencephaly		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly	PMID:10369266|PMID:15523651|PMID:19346217
12147658	SIX3	SIX homeobox 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147658	SIX3	SIX homeobox 3	gene	DOID:630	genetic disease		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16323008|PMID:25741868|PMID:28492532
12147658	SIX3	SIX homeobox 3	gene	DOID:9006637	Schizencephaly		ISO	RGD:733474	D	RGD:7240710	20190327	OMIM			
12147658	SIX3	SIX homeobox 3	gene	DOID:9006637	Schizencephaly		ISO	RGD:733474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
12147658	SIX3	SIX homeobox 3	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:733474	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:0111545	familial male-limited precocious puberty		ISO	RGD:737217	D	RGD:7240710	20180130	OMIM			
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:0112259	Leydig cell hypoplasia		ISO	RGD:737217	D	RGD:7240710	20180130	OMIM			
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:12336	male infertility		ISO	RGD:737217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20164437
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:1612	breast cancer		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		DNA:SNP:CDS:rs2293275, 312Asn allele associated with a slight increase in risk in two patient cohorts (p=0.03 and p=0.001)	PMID:17709176|REF_RGD_ID:2292539
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:1612	breast cancer	onset	ISO	RGD:737217	D	RGD:9068941	20200609	RGD		DNA:insertion:CDS:insLQ allele associated with earlier onset (51.9 vs 60.2 yrs, p=0.03)	PMID:12679452|REF_RGD_ID:2292545
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:1612	breast cancer	severity	ISO	RGD:737217	D	RGD:9068941	20200609	RGD		DNA:insertion:CDS:insLQ allele associated with decreased disease free survival alone (p=0.007) or in combination with the 16Ser allele of GNRH1 (p=0.001)	PMID:17692113|REF_RGD_ID:2292541
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:1923	disorder of sexual development		ISO	RGD:737217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22615892
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2277	gonadal disease	susceptibility	ISO	RGD:737217	D	RGD:9068941	20200609	RGD		DNA:transition: ; 1192T>C, precocious puberty, OMIM:176410	PMID:8929952|REF_RGD_ID:1600291
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2696	Leydig cell tumor		ISO	RGD:10870	D	RGD:9068941	20200609	RGD			PMID:15967102|REF_RGD_ID:2302176
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2696	Leydig cell tumor		ISO	RGD:737217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10580072|PMID:11857565
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2696	Leydig cell tumor		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		DNA:transversion:CDS:1732G>C, amino acid D578H	PMID:11857565|REF_RGD_ID:2292537
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2999	granulosa cell tumor		ISO	RGD:10870	D	RGD:9068941	20200609	RGD			PMID:15967102|REF_RGD_ID:2302176
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:2999	granulosa cell tumor		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05)	PMID:11994539|REF_RGD_ID:2289157
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:3114	serous cystadenocarcinoma		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.05)	PMID:11994539|REF_RGD_ID:2289157
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:3603	mucinous cystadenocarcinoma		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:significantly lower vs normal ovary (p<0.01)	PMID:11994539|REF_RGD_ID:2289157
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:737217	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary	PMID:11994539|REF_RGD_ID:2289157
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:9003766	46, XY Disorders of Sex Development		ISO	RGD:737217	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:19887492|PMID:7719343
12147669	LHCGR	luteinizing hormone/choriogonadotropin receptor	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:3007	D	RGD:9068941	20200609	RGD		mRNA:splice variant (rat)	PMID:15044717|REF_RGD_ID:2302177
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:23757202|PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:0110131	Bardet-Biedl syndrome 9		ISO	RGD:1603660	D	RGD:7240710	20180130	OMIM			
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:0110131	Bardet-Biedl syndrome 9		ISO	RGD:1603660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: BARDET-BIEDL SYNDROME 9 | ClinVar Annotator: match by term: BBS9-related ciliopathy | ClinVar Annotator: match by term: BBS9-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 9	PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:20498079|PMID:21157496|PMID:21209035|PMID:21642631|PMID:22479622|PMID:23160099|PMID:23757202|PMID:24849935|PMID:25525159|PMID:25741868|PMID:25910913|PMID:26085087|PMID:26518167|PMID:26766544|PMID:27659767|PMID:28492532|PMID:28981474|PMID:29096039|PMID:29970488|PMID:30614526|PMID:30718709|PMID:30773290|PMID:31054281|PMID:31456290|PMID:31488071|PMID:31589614|PMID:31690835|PMID:31736247|PMID:31888296|PMID:31964843|PMID:32165602|PMID:32686083|PMID:33138063|PMID:33777945|PMID:34354814|PMID:34526762|PMID:35112343|PMID:35304488|PMID:35562395|PMID:38674329|PMID:9536098
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1603660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:30718709
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:1324	lung cancer		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:1909	melanoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARL6-related disorder | ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16199547|PMID:16380913|PMID:17576681|PMID:20177705|PMID:23160099|PMID:23757202|PMID:24746959|PMID:25640679|PMID:25741868|PMID:26766544|PMID:27708425|PMID:27894351|PMID:28492532|PMID:30614526|PMID:31144483|PMID:32165602|PMID:32552793|PMID:33138063|PMID:33616283|PMID:33964006|PMID:34354814|PMID:9536098
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:2340	craniosynostosis		ISO	RGD:1603660	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23160099
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:2340	craniosynostosis	susceptibility	ISO	RGD:1603660	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns:rs10262453,rs17724206,rs1884302(human)	PMID:23160099|REF_RGD_ID:9684995
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603660	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:16199547|PMID:16380913|PMID:20177705|PMID:25741868|PMID:28492532|PMID:32165602|PMID:34354814
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1603660	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:5419	schizophrenia		ISO	RGD:1603660	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:5426	primary ovarian insufficiency	susceptibility	ISO	RGD:1603660	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotypes: :	PMID:18349106|REF_RGD_ID:9684994
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:5679	retinal disease		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:5723	optic atrophy		ISO	RGD:1603660	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:630	genetic disease		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:8501	fundus dystrophy		ISO	RGD:1603660	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16380913|PMID:20177705|PMID:24849935|PMID:25741868|PMID:28492532|PMID:32531858|PMID:35886
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603660	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12147687	BBS9	Bardet-Biedl syndrome 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603660	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:0080600	COVID-19		ISO	RGD:1344103	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147758	FUCA2	alpha-L-fucosidase 2	gene	DOID:9002189	High Myopia		ISO	RGD:1344103	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:1115	sarcoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:1324	lung cancer		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:1826	epilepsy		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:1909	melanoma		ISO	RGD:731938	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:3275	thymoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:731938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147769	DLG2	discs large MAGUK scaffold protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731938	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:1324	lung cancer		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:1909	melanoma		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147851	INPP5J	inositol polyphosphate-5-phosphatase J	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147868	RUFY4	RUN and FYVE domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147868	RUFY4	RUN and FYVE domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147868	RUFY4	RUN and FYVE domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147868	RUFY4	RUN and FYVE domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602820	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147891	PROM1	prominin 1	gene	DOID:0050439	Usher syndrome		ISO	RGD:1345263	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Usher syndrome	PMID:17576681|PMID:28492532|PMID:9536098
12147891	PROM1	prominin 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1345263	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: CONE-ROD RETINAL DYSTROPHY | ClinVar Annotator: match by term: Cone-Rod Dystrophy, Dominant | ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:10205271|PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:23591405|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24474277|PMID:24516651|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:26702251|PMID:27874104|PMID:28041643|PMID:28418496|PMID:28492532|PMID:30588538|PMID:31129250|PMID:31199449|PMID:3181667|PMID:31816670|PMID:31964843|PMID:32531858|PMID:35951719|PMID:36785559|PMID:36909829
12147891	PROM1	prominin 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:17605048|PMID:19718270|PMID:23591405|PMID:24154662|PMID:24474277|PMID:25474345|PMID:25741868|PMID:28492532|PMID:36909829
12147891	PROM1	prominin 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1345263	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30718709|PMID:31129250|PMID:34906470|PMID:35947379|PMID:9536098|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1345263	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Stargardt disease	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17576681|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:24154662|PMID:24516651|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27624628|PMID:27874104|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28840994|PMID:29555955|PMID:29847639|PMID:30578500|PMID:30588538|PMID:30653986|PMID:30718709|PMID:30926958|PMID:31054281|PMID:31129250|PMID:31144483|PMID:31213501|PMID:32531858|PMID:32581362|PMID:32820593|PMID:33090715|PMID:33749171|PMID:34008001|PMID:34906470|PMID:35947379|PMID:36259723|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9536098|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:0050817	Stargardt disease		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stargardt disease | ClinVar Annotator: match by term: Stargardt's disease	PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30578500|PMID:31054281
12147891	PROM1	prominin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147891	PROM1	prominin 1	gene	DOID:0061239	Stargardt disease 4		ISO	RGD:1345263	D	RGD:7240710	20180130	OMIM			
12147891	PROM1	prominin 1	gene	DOID:0061239	Stargardt disease 4		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: STARGARDT DISEASE 4 | ClinVar Annotator: match by term: Stargardt disease 4	PMID:24265693|PMID:25741868|PMID:28492532
12147891	PROM1	prominin 1	gene	DOID:0061241	Stargardt disease 1		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fundus flavimaculatus	PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30578500|PMID:31054281
12147891	PROM1	prominin 1	gene	DOID:0070517	retinal macular dystrophy 2		ISO	RGD:1345263	D	RGD:7240710	20180130	OMIM			
12147891	PROM1	prominin 1	gene	DOID:0070517	retinal macular dystrophy 2		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal macular dystrophy type 2	PMID:24265693|PMID:25741868|PMID:28492532
12147891	PROM1	prominin 1	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:1345263	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:17605048|PMID:19718270|PMID:24154662|PMID:24938718|PMID:25474345|PMID:25741868|PMID:28492532|PMID:31054281|PMID:31836589
12147891	PROM1	prominin 1	gene	DOID:0110376	retinitis pigmentosa 41		ISO	RGD:1345263	D	RGD:7240710	20180130	OMIM			
12147891	PROM1	prominin 1	gene	DOID:0110376	retinitis pigmentosa 41		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RETINAL DEGENERATION, AUTOSOMAL RECESSIVE, PROMININ-RELATED | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 41 | ClinVar Annotator: match by term: Retinitis pigmentosa 41	PMID:16199547|PMID:17605048|PMID:19718270|PMID:20042663|PMID:24154662|PMID:25356976|PMID:25474345|PMID:25741868|PMID:28041643|PMID:28492532|PMID:29343940|PMID:29555955|PMID:31054281|PMID:31129250|PMID:36909829|PMID:37510321
12147891	PROM1	prominin 1	gene	DOID:0111005	cone-rod dystrophy 2		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 2	PMID:26153215|PMID:28492532
12147891	PROM1	prominin 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1345263	D	RGD:7240710	20180130	OMIM			
12147891	PROM1	prominin 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:17605048|PMID:19718270|PMID:24154662|PMID:24265693|PMID:25474345|PMID:25741868|PMID:28095140|PMID:28492532|PMID:32820593|PMID:33546218
12147891	PROM1	prominin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30718709
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30588538|PMID:30718709
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593|PMID:34906470|PMID:35947379|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26872967|PMID:27874104|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28559085|PMID:29186038|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30718709|PMID:32581362|PMID:32820593|PMID:34906470|PMID:35947379|PMID:36909829|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27624628|PMID:27874104|PMID:28041643|PMID:28076437|PMID:28095140|PMID:28492532|PMID:28559085|PMID:28840994|PMID:29186038|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30653986|PMID:30718709|PMID:30926958|PMID:31054281|PMID:31129250|PMID:31144483|PMID:31213501|PMID:31964843|PMID:32531858|PMID:32581362|PMID:32820593|PMID:33090715|PMID:33749171|PMID:34008001|PMID:3442652|PMID:34426522|PMID:34906470|PMID:35947379|PMID:36259723|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:12659814|PMID:15665353|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:23757202|PMID:24154662|PMID:24265693|PMID:24938718|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:25999674|PMID:26103963|PMID:26161267|PMID:26261540|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27624628|PMID:27874104|PMID:28041643|PMID:28076437|PMID:28095140|PMID:28492532|PMID:28559085|PMID:28840994|PMID:29186038|PMID:29555955|PMID:29847639|PMID:30215852|PMID:30588538|PMID:30653986|PMID:30718709|PMID:30926958|PMID:31054281|PMID:31129250|PMID:31144483|PMID:31213501|PMID:31964843|PMID:32531858|PMID:32581362|PMID:32820593|PMID:33090715|PMID:33749171|PMID:34008001|PMID:3442652|PMID:34426522|PMID:34906470|PMID:35947379|PMID:36259723|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37734845|PMID:9634506
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10205271|PMID:12657606|PMID:16199547|PMID:17605048|PMID:18654668|PMID:19718270|PMID:20393116|PMID:20859302|PMID:22183351|PMID:22581970|PMID:23105016|PMID:24154662|PMID:24265693|PMID:25356976|PMID:25474345|PMID:25741868|PMID:25910913|PMID:26355662|PMID:27624628|PMID:28041643|PMID:28076437|PMID:28492532|PMID:28559085|PMID:28840994|PMID:29186038|PMID:29555955|PMID:29847639|PMID:30653986|PMID:30718709|PMID:30926958|PMID:31054281|PMID:31129250|PMID:31144483|PMID:31213501|PMID:32531858|PMID:32581362|PMID:32820593|PMID:33090715|PMID:33749171|PMID:34008001|PMID:34906470|PMID:36259723|PMID:36284460|PMID:36460718|PMID:36819107|PMID:36909829|PMID:37975849
12147891	PROM1	prominin 1	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:17605048|PMID:19718270|PMID:23105016|PMID:24154662|PMID:24265693|PMID:25474345|PMID:25741868|PMID:26355662|PMID:28041643|PMID:28492532|PMID:29186038|PMID:30718709|PMID:32581362|PMID:37975849
12147891	PROM1	prominin 1	gene	DOID:1115	sarcoma		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147891	PROM1	prominin 1	gene	DOID:1324	lung cancer		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147891	PROM1	prominin 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:16199547|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:28492532|PMID:30578500|PMID:36909829
12147891	PROM1	prominin 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1345263	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32673656
12147891	PROM1	prominin 1	gene	DOID:3068	glioblastoma		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679414|PMID:18829568|PMID:19718438
12147891	PROM1	prominin 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12147891	PROM1	prominin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147891	PROM1	prominin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345263	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147891	PROM1	prominin 1	gene	DOID:5679	retinal disease		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:10205271|PMID:17605048|PMID:19718270|PMID:24154662|PMID:25474345|PMID:25741868|PMID:25999674|PMID:26103963|PMID:26261540|PMID:27874104|PMID:28041643|PMID:28492532|PMID:30588538
12147891	PROM1	prominin 1	gene	DOID:5723	optic atrophy		ISO	RGD:1345263	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:24265693|PMID:25741868|PMID:28492532
12147891	PROM1	prominin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147891	PROM1	prominin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21919130
12147891	PROM1	prominin 1	gene	DOID:630	genetic disease		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12147891	PROM1	prominin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147891	PROM1	prominin 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345263	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17576681|PMID:17605048|PMID:19718270|PMID:20554613|PMID:24154662|PMID:24265693|PMID:24547909|PMID:24938718|PMID:25356976|PMID:25472526|PMID:25474345|PMID:25611614|PMID:25741868|PMID:26103963|PMID:26161267|PMID:26355662|PMID:26393467|PMID:26872967|PMID:27208204|PMID:28041643|PMID:28095140|PMID:28492532|PMID:28600779|PMID:29555955|PMID:29769798|PMID:30215852|PMID:3057632|PMID:30576320|PMID:30718709|PMID:31129250|PMID:31199449|PMID:31630094|PMID:31816670|PMID:31964843|PMID:32483926|PMID:3253185|PMID:32531858|PMID:33546218|PMID:34321860|PMID:3442652|PMID:34426522|PMID:35836572|PMID:36460718|PMID:36785559|PMID:36819107|PMID:36909829|PMID:37217489|PMID:37510321|PMID:37734845|PMID:37975849|PMID:9536098
12147891	PROM1	prominin 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
12147891	PROM1	prominin 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21919130
12147891	PROM1	prominin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345263	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147891	PROM1	prominin 1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29626521
12147891	PROM1	prominin 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1345263	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18829568
12147891	PROM1	prominin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345263	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147891	PROM1	prominin 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:69367	D	RGD:9068941	20200609	RGD			PMID:11237753|REF_RGD_ID:68837
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:0050538	Charcot-Marie-Tooth disease type 1		ISO	RGD:735583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type I	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:0110151	Charcot-Marie-Tooth disease type 1C		ISO	RGD:735583	D	RGD:7240710	20180130	OMIM			
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:0110151	Charcot-Marie-Tooth disease type 1C		ISO	RGD:735583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, demyelinating, Type 1C | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IC | ClinVar Annotator: match by term: LITAF-related condition	PMID:12525712|PMID:15122712|PMID:15776420|PMID:15776429|PMID:16787513|PMID:17576681|PMID:19396477|PMID:20301384|PMID:21896645|PMID:22765307|PMID:23166352|PMID:23359569|PMID:23576546|PMID:24844793|PMID:24880540|PMID:25058650|PMID:25342198|PMID:25614874|PMID:25741868|PMID:25963657|PMID:26467025|PMID:27009151|PMID:27927196|PMID:28211240|PMID:28492532|PMID:32376792|PMID:34311727|PMID:37868241|PMID:39140136|PMID:9536098
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:10534	stomach cancer		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:735583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15122712|PMID:15776420|PMID:15776429|PMID:16787513|PMID:19396477|PMID:20301384|PMID:20709679|PMID:22765307|PMID:23576546|PMID:25058650|PMID:25342198|PMID:25741868|PMID:26467025|PMID:27009151|PMID:28211240|PMID:28492532|PMID:32376792|PMID:39140136
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:1115	sarcoma		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:735583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:735583	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:4362	cervical cancer		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:5041	esophageal cancer		ISO	RGD:735583	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:630	genetic disease		ISO	RGD:735583	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15776429|PMID:16787513|PMID:17576681|PMID:19396477|PMID:22765307|PMID:25741868|PMID:26467025|PMID:28211240|PMID:28492532|PMID:39140136|PMID:9536098
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29845714
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69294	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21575160|REF_RGD_ID:11533943
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:9008305	Talipes Cavus		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868|PMID:37091313
12147932	LITAF	lipopolysaccharide induced TNF factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:7240710	20221102	OMIM			
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: GPR161-related disorder | ClinVar Annotator: match by term: MEDULLOBLASTOMA PREDISPOSITION SYNDROME | ClinVar Annotator: match by term: Medulloblastoma	PMID:25741868|PMID:28492532|PMID:29386106|PMID:31609649|PMID:33194646
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:1324	lung cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:1909	melanoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:3070	high grade glioma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:4362	cervical cancer		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:9007661	Dwarfism		ISO	RGD:1607069	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25322266|PMID:25741868|PMID:28492532
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607069	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12147940	GPR161	G protein-coupled receptor 161	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:126734315	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stroma tumor	PMID:28492532
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:0060058	lymphoma		ISO	RGD:731872	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731872	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:731872	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731872	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12147963	SLC28A3	solute carrier family 28 member 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:621224	D	RGD:9068941	20200609	RGD			PMID:16014043|REF_RGD_ID:2317455
12147997	GPC2	glypican 2	gene	DOID:1324	lung cancer		ISO	RGD:731703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12147997	GPC2	glypican 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:731703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12147997	GPC2	glypican 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148011	YPEL4	yippee like 4	gene	DOID:0080600	COVID-19		ISO	RGD:1345149	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12148023	NCCRP1	NCCRP1, F-box associated domain containing	gene	DOID:1115	sarcoma		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148023	NCCRP1	NCCRP1, F-box associated domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148023	NCCRP1	NCCRP1, F-box associated domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148023	NCCRP1	NCCRP1, F-box associated domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320916	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148063	HOOK2	hook microtubule tethering protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148091	MIR24-1	microRNA mir-24-1	gene	DOID:13580	cholestasis		ISO	RGD:1342757	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12148094	MIR490	microRNA mir-490	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1603779	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: therapeutic	PMID:33482250
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:10763	hypertension		ISO	RGD:620608	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:16132109|REF_RGD_ID:2301377
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:9003936	Cardiomegaly		ISO	RGD:620608	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:16132109|REF_RGD_ID:2301377
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:734145	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12148173	COX5B	cytochrome c oxidase subunit 5B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734145	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148187	ANKIB1	ankyrin repeat and IBR domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:0070449	mitochondrial DNA depletion syndrome 18		ISO	RGD:1350119	D	RGD:7240710	20200408	OMIM			
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:0070449	mitochondrial DNA depletion syndrome 18		ISO	RGD:1350119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 18 | ClinVar Annotator: match by term: SLC25A21-related condition	PMID:25741868|PMID:28492532
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:1324	lung cancer		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:1909	melanoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12148228	SLC25A21	solute carrier family 25 member 21	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148263	LOC100684414	zinc finger protein 780A-like	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1602429	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12148263	LOC100684414	zinc finger protein 780A-like	gene	DOID:4362	cervical cancer		ISO	RGD:1602429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148263	LOC100684414	zinc finger protein 780A-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1602429	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148263	LOC100684414	zinc finger protein 780A-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148263	LOC100684414	zinc finger protein 780A-like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602429	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148274	VMAC	vimentin type intermediate filament associated coiled-coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148274	VMAC	vimentin type intermediate filament associated coiled-coil protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606370	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:0050759	myotonic dystrophy type 2		ISO	RGD:733498	D	RGD:7240710	20190315	OMIM			
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:0050759	myotonic dystrophy type 2		ISO	RGD:733498	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myotonic dystrophy type 2	PMID:25741868
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:450	myotonic disease		ISO	RGD:733498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:630	genetic disease		ISO	RGD:733498	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12148336	CNBP	CCHC-type zinc finger nucleic acid binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733498	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:0050852	limb ischemia		ISO	RGD:62258	D	RGD:9068941	20240208	RGD		protein:increased expression, increased activity:hindlimb muscle (mouse)	PMID:18451337|REF_RGD_ID:401965417
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:0051061	stroke		ISO	RGD:62258	D	RGD:9068941	20240222	RGD		protein:increased expression:cerebral cortex (mouse)	PMID:32788467|REF_RGD_ID:401976392
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:10763	hypertension		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28899902
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:61965	D	RGD:9068941	20240222	RGD			PMID:29859467|REF_RGD_ID:401976391
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:10763	hypertension	treatment	ISO	RGD:61965	D	RGD:9068941	20240222	RGD		associated with obesity	PMID:29562733|REF_RGD_ID:401976390
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:10825	essential hypertension	susceptibility	ISO	RGD:1343639	D	RGD:9068941	20240125	RGD		DNA:SNPs::g.54281T>A, 15/37C>A (human)	PMID:20101100|REF_RGD_ID:401959376
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:1115	sarcoma		ISO	RGD:1343639	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:1206	Rett syndrome		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214522
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:1343639	D	RGD:9068941	20240222	RGD		protein:increased expression:vitreous humor (human)	PMID:33627831|REF_RGD_ID:401976389
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:1324	lung cancer		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:1909	melanoma		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28899902
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:2018	hyperinsulinism		ISO	RGD:61965	D	RGD:9068941	20240208	RGD		associated with Carotid Artery Injuries;mRNA, protein:altered expression, altered activity:carotid artery (rat)	PMID:19011046|REF_RGD_ID:401965418
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1343639	D	RGD:9068941	20240208	RGD		DNA:SNP:exon 8:g.981C>T (human)	PMID:21676396|REF_RGD_ID:401965429
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:707	B-cell lymphoma		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24531327
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24531327
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26739621
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9001600	Wounds and Injuries	treatment	ISO	RGD:62258	D	RGD:9068941	20240208	RGD		associated with Experimental Diabetes Mellitus	PMID:25395617|REF_RGD_ID:401965402
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9004397	Calcification of Aortic Valve		ISO	RGD:1343639	D	RGD:9068941	20240222	RGD		protein:increased expression:aortic valve (human)	PMID:35958694|REF_RGD_ID:401976381
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9005372	Inflammation		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:28899902
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62258	D	RGD:9068941	20240208	RGD		protein:increased activity:retina (mouse)	PMID:19029027|REF_RGD_ID:401965415
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:61965	D	RGD:9068941	20240208	RGD		mRNA:increased expression:carotid artery (rat)	PMID:10807732|REF_RGD_ID:9590128
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:61965	D	RGD:9068941	20240208	RGD		protein:increased expression:carotid artery (rat)	PMID:15271661|REF_RGD_ID:401965432
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9006182	Carotid Artery Injuries	exacerbates	ISO	RGD:61965	D	RGD:9068941	20240208	RGD			PMID:16373608|REF_RGD_ID:401965416
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1343639	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INSULIN RESISTANCE, SUSCEPTIBILITY TO	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9008299	Mediastinal Neoplasms		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24531327
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1343639	D	RGD:9068941	20240208	RGD		protein:increased expression:skin of forearm (human)	PMID:22688339|REF_RGD_ID:8547813
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1343639	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: PTPN1-related condition	PMID:25741868|PMID:28492532
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1343639	D	RGD:9068941	20240208	RGD		DNA:missense mutation:CDS:p.P387L (human)	PMID:15715684|REF_RGD_ID:401965404
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1343639	D	RGD:7240710	20230505	OMIM			
12148358	PTPN1	protein tyrosine phosphatase non-receptor type 1	gene	DOID:9970	obesity		ISO	RGD:1343639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10744717|PMID:20075852
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050127	sinusitis		ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:18396779|REF_RGD_ID:4892328
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:25886852|REF_RGD_ID:408345235
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:732227	D	RGD:9068941	20241031	RGD			PMID:26121746|REF_RGD_ID:408345252
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:732227	D	RGD:9068941	20241031	RGD		DNA:SNP : rs6198	PMID:23543128|REF_RGD_ID:408345225
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lymphoid tissue:	PMID:15611350|REF_RGD_ID:4892608
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0051061	stroke		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:20858282|REF_RGD_ID:4892205
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0060001	withdrawal disorder		ISO	RGD:732227	D	RGD:9068941	20241024	RGD		associated with cocaine dependence;DNA:SNP:intron:rs41423247	PMID:27397864|REF_RGD_ID:401976507
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0060058	lymphoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:10691	D	RGD:9068941	20200609	RGD			PMID:21509671|REF_RGD_ID:7174713
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:17880936|REF_RGD_ID:7174734
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		mRNA:alternative form:blood, mononuclear cell	PMID:20419394|REF_RGD_ID:7174729
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:732227	D	RGD:9068941	20251002	RGD		DNA:SNP: :rs41423247	PMID:25843653|REF_RGD_ID:628360898
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		protein:increased phosphorylation:amygdala	PMID:30638118|REF_RGD_ID:405101698
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:2741	D	RGD:9068941	20241109	RGD		mRNA:decreased expression:hippocampus, hypothalamus	PMID:36637480|REF_RGD_ID:408364984
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10283	prostate cancer		ISO	RGD:732227	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10283	prostate cancer		ISO	RGD:732227	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10763	hypertension		ISO	RGD:10691	D	RGD:9068941	20200609	RGD			PMID:20659135|REF_RGD_ID:7174714
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10763	hypertension		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		associated with fetal nutrition disorder	PMID:20674672|REF_RGD_ID:4892208
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10763	hypertension		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18434569|PMID:20659135
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:2741	D	RGD:9068941	20241107	RGD		mRNA:increased expression:prefrontal cortex	PMID:26820676|REF_RGD_ID:408364966
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:10966	lipoid nephrosis	disease_progression	ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:17890747|REF_RGD_ID:7174718
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:11206	opioid abuse	treatment	ISO	RGD:2741	D	RGD:9068941	20240208	RGD			PMID:9636221|REF_RGD_ID:401965473
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:22176470|REF_RGD_ID:7174741
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1184	nephrotic syndrome	treatment	ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:15833166|REF_RGD_ID:7174719
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		mRNA:altered expression:leukocyte, mononuclear	PMID:15635817|REF_RGD_ID:4892607
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:13141	uveitis		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:ciliary body, iris	PMID:23152847|REF_RGD_ID:7174735
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:13141	uveitis		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:retina (rat)	PMID:21724913|REF_RGD_ID:5490118
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:2255800|REF_RGD_ID:4892566
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:14183	alcoholic neuropathy	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:18093169|REF_RGD_ID:408345248
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:14695	galactokinase deficiency		ISO	RGD:732227	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Deficiency of galactokinase	PMID:25741868
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1470	major depressive disorder		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:IVS2+646C>G (human)	PMID:18246526|REF_RGD_ID:7174717
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1561	cognitive disorder		ISO	RGD:2741	D	RGD:9068941	20241109	RGD		protein:decreased expression:nucleus, hippocamlpus	PMID:22971526|REF_RGD_ID:408364985
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		mRNA, protein:decreased expression:placenta	PMID:21143252|REF_RGD_ID:408345244
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		protein:decreased expression, decreased DNA binding:brain	PMID:11961084|REF_RGD_ID:408345232
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:10691	D	RGD:9068941	20250802	RGD		protein:increased expression:medial prefrontal cortex	PMID:35645747|REF_RGD_ID:617302495
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:31756338|PMID:33920737|REF_RGD_ID:408345239|REF_RGD_ID:408345241
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1596	depressive disorder		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:21837980|REF_RGD_ID:5686290
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1596	depressive disorder		ISO	RGD:2741	D	RGD:9068941	20250904	RGD			PMID:31329100|REF_RGD_ID:407571699
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1596	depressive disorder		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:2741	D	RGD:9068941	20241109	RGD			PMID:27221032|PMID:32982244|REF_RGD_ID:408364963|REF_RGD_ID:408364988
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1824	status epilepticus		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus	PMID:22050960|REF_RGD_ID:5686281
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:1909	melanoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2055	post-traumatic stress disorder		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:locus coeruleus (rat)	PMID:21584742|REF_RGD_ID:5686336
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2316	brain ischemia		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain cortex	PMID:17344647|REF_RGD_ID:4892115
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2320	obstructive lung disease		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9926163
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2468	psychotic disorder		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:27618384|REF_RGD_ID:408345246
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2841	asthma		ISO	RGD:2741	D	RGD:9068941	20241114	RGD			PMID:28297812|REF_RGD_ID:408364991
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2841	asthma		ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:15295049|PMID:18396779|REF_RGD_ID:4892328|REF_RGD_ID:4892609
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2841	asthma	severity	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:increased expression, decreased activity:leukocyte, mononuclear	PMID:18799869|REF_RGD_ID:4892594
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron	PMID:21113676|REF_RGD_ID:4892568
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:2841	asthma	treatment	ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:20727335|REF_RGD_ID:7174728
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:289	endometriosis		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3082	interstitial lung disease	disease_progression	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:4028852|REF_RGD_ID:4892567
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:9926163|REF_RGD_ID:4892564
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung, lymphocyte	PMID:20450542|REF_RGD_ID:4892318
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3312	bipolar disorder		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3324	mood disorder		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29921868
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3393	coronary artery disease		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.N363S (human)	PMID:12623935|REF_RGD_ID:1580790
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:16806572|REF_RGD_ID:4892333
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:4194	glucose metabolism disease		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29802709
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:4450	renal cell carcinoma	severity	ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:21531004|REF_RGD_ID:7174727
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:732227	D	RGD:9068941	20200609	RGD			PMID:18181043|REF_RGD_ID:7174733
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:10691	D	RGD:9068941	20220825	MouseDO		OMIM:605635 | OMIM:613677	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:4500	hypokalemia		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11932321
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:732227	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:5419	schizophrenia		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14708030|PMID:21647420
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:21737535|REF_RGD_ID:7174712
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:630	genetic disease		ISO	RGD:732227	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		mRNA:increased expression:paw	PMID:18448865|REF_RGD_ID:4892311
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:767	muscular atrophy		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		protein:altered expression:nucleus	PMID:17622304|REF_RGD_ID:4892297
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:783	end stage renal disease		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:18591458|REF_RGD_ID:7174716
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:809	cocaine abuse		ISO	RGD:732227	D	RGD:9068941	20241024	RGD		mRNA:decreased expression:blood	PMID:29761890|REF_RGD_ID:407987269
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:2741	D	RGD:9068941	20240222	RGD			PMID:12805318|PMID:9765324|REF_RGD_ID:401976288|REF_RGD_ID:401976376
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:83	cataract		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:12714641|REF_RGD_ID:4892118
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:850	lung disease		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		Acute lung injury;protein:increased expression:lung	PMID:17467318|REF_RGD_ID:4892201
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:850	lung disease	disease_progression	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		associated with Cystic Fibrosis;DNA:polymorphism:intron	PMID:18047640|REF_RGD_ID:4892330
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:8689	anorexia nervosa		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood, mononuclear leukocyte	PMID:10356629|REF_RGD_ID:7174723
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:8947	diabetic retinopathy		ISO	RGD:2741	D	RGD:9068941	20241107	RGD		associated with Experimental Diabetes Mellitus;protein:altered expression:retina	PMID:37904673|REF_RGD_ID:408364965
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9000121	Malocclusion		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:21751079|REF_RGD_ID:5686299
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9000197	Edema		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:19396522|REF_RGD_ID:4892316
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9000499	Alcoholic Intoxication	sexual_dimorphism	ISO	RGD:732227	D	RGD:9068941	20241026	RGD		DNA:SNP: :rs244465	PMID:20731635|REF_RGD_ID:408345194
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:10691	D	RGD:9068941	20241031	RGD		mRNA:increased expression:hippocampus	PMID:25988842|REF_RGD_ID:408345224
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:2741	D	RGD:9068941	20241107	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter, hypothalamus	PMID:35661969|REF_RGD_ID:408364968
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:2741	D	RGD:9068941	20241109	RGD		mRNA:decreased expression:hippocampus	PMID:37437420|REF_RGD_ID:408364989
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20240222	RGD		protein:altered expression:hippocampus (rat)	PMID:10399770|REF_RGD_ID:401976290
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241205	RGD		mRNA:altered expression:brain	PMID:29990678|PMID:31102593|REF_RGD_ID:401976282|REF_RGD_ID:408345228
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		DNA, RNA, protein:hypermethylation, decreased expression:promoter, hippocampus	PMID:28086911|REF_RGD_ID:408345237
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder;mRNA:decreased expression:hippocampus	PMID:32497709|REF_RGD_ID:401950485
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2741	D	RGD:9068941	20241107	RGD		associated with stress-related disorder;DNA, mRNA, protein:hypermethylation, decreased expression:promoter, hypothalamus	PMID:35661969|REF_RGD_ID:408364968
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:2741	D	RGD:9068941	20241114	RGD		associated with amphetamine abuse;mRNA:increased expression:prefrontal cortex	PMID:31417344|REF_RGD_ID:408364995
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241024	RGD		associated with alcohol use disorder;mRNA:decreased expression:hippocampus	PMID:26180184|REF_RGD_ID:11074449
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241024	RGD		associated with alcohol use disorder;mRNA:decreased expression:prefrontal cortex	PMID:29990678|REF_RGD_ID:401976282
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241026	RGD		associated with alcohol use disorder;mRNA:increased expression:hippocampus	PMID:29251811|PMID:30741061|REF_RGD_ID:401965484|REF_RGD_ID:408345195
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder mRNA:altered expression:brain	PMID:31102593|REF_RGD_ID:408345228
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder;mRNA:altered expression:prefrontal cortex	PMID:30367959|REF_RGD_ID:401966864
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:2741	D	RGD:9068941	20241031	RGD		associated with alcohol use disorder;mRNA:decreased expression:amygdala	PMID:15940294|REF_RGD_ID:408345230
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD		associated with stress-related disorder	PMID:25442671|REF_RGD_ID:408361837
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:20388836|REF_RGD_ID:4892120
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney	PMID:17272666|REF_RGD_ID:2308941
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002457	Experimental Arthritis	treatment	ISO	RGD:2741	D	RGD:9068941	20241114	RGD			PMID:30967782|REF_RGD_ID:408364994
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:10691	D	RGD:9068941	20241031	RGD			PMID:18801418|REF_RGD_ID:408345247
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		protein:decreased expression:cingulate gyrus	PMID:11961084|REF_RGD_ID:408345232
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002735	alcohol withdrawal syndrome		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		protein:decreased phosphorylation:prefrontal cortex	PMID:25732140|REF_RGD_ID:408345231
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10691	D	RGD:9068941	20200609	RGD			PMID:17322387|REF_RGD_ID:4892331
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2741	D	RGD:9068941	20241109	RGD		protein:increased expression:hippocampus	PMID:31071644|REF_RGD_ID:408364986
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:altered expression:nasal mucosa	PMID:20185258|REF_RGD_ID:4892593
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood, mononuclear cell	PMID:10959477|REF_RGD_ID:7174721
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9004354	Alcohol-Related Disorders		ISO	RGD:10691	D	RGD:9068941	20241031	RGD			PMID:16325017|REF_RGD_ID:408345251
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9004484	Sepsis		ISO	RGD:10691	D	RGD:9068941	20200609	RGD		protein:decreased expression:alveolar macrophage	PMID:21057058|REF_RGD_ID:4892317
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:21787473|REF_RGD_ID:7174711
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005158	Cushing Syndrome		ISO	RGD:10691	D	RGD:9068941	20200609	RGD			PMID:10471508|PMID:19635986|REF_RGD_ID:7174715|REF_RGD_ID:7174722
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005158	Cushing Syndrome		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:decreased activity:blood, mononuclear leukocyte	PMID:10356629|REF_RGD_ID:7174723
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12805318|PMID:19234455
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2741	D	RGD:9068941	20200609	RGD		protein:increased expression:placenta	PMID:21744335|REF_RGD_ID:12879479
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2741	D	RGD:9068941	20241109	RGD			PMID:26883980|REF_RGD_ID:14695543
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005851	46, XX Disorders of Sex Development		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11932321
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:15640646|REF_RGD_ID:4892561
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9006302	Binge Drinking	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:22500955|REF_RGD_ID:408361838
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:2741	D	RGD:9068941	20241109	RGD		associated with Traumatic Brain Injuries;mRNA:decreased expression:hippocampus, hypothalamus	PMID:36637480|REF_RGD_ID:408364984
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9006358	Postoperative Cognitive Dysfunction	treatment	ISO	RGD:2741	D	RGD:9068941	20241031	RGD			PMID:28086911|REF_RGD_ID:408345237
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29802709
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:732227	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2741	D	RGD:9068941	20241214	RGD		protein:decreased expression:brain	PMID:20113635|REF_RGD_ID:4892123
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9007730	Burns		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:11990926|REF_RGD_ID:7174720
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9007730	Burns	treatment	ISO	RGD:2741	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver, lung, kidney	PMID:19216853|REF_RGD_ID:4892319
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9008023	Memory Disorders	treatment	ISO	RGD:2741	D	RGD:9068941	20241114	RGD			PMID:23159706|REF_RGD_ID:408364992
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9008669	Glucocorticoid Receptor Deficiency		ISO	RGD:732227	D	RGD:7240710	20180130	OMIM			
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9008669	Glucocorticoid Receptor Deficiency		ISO	RGD:732227	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GLUCOCORTICOID RESISTANCE, ATYPICAL | ClinVar Annotator: match by term: GLUCOCORTICOID RESISTANCE, CELLULAR | ClinVar Annotator: match by term: GLUCOCORTICOID RESISTANCE, GENERALIZED | ClinVar Annotator: match by term: Gcr deficiency | ClinVar Annotator: match by term: Glucocorticoid resistance | ClinVar Annotator: match by term: NR3C1-related disorder	PMID:11589680|PMID:15017388|PMID:19435830|PMID:25741868|PMID:27120390|PMID:28492532|PMID:29444898
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9282	ocular hypertension		ISO	RGD:732227	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17563720
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:17292727|REF_RGD_ID:4892117
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9970	obesity		ISO	RGD:2741	D	RGD:9068941	20200609	RGD			PMID:20723946|REF_RGD_ID:4892206
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9970	obesity		ISO	RGD:732227	D	RGD:9068941	20200609	RGD		associated with Depressive Disorder, Major;DNA:SNP:intron:IVS2+646C>G (human)	PMID:18246526|REF_RGD_ID:7174717
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9970	obesity	no_association	ISO	RGD:732227	D	RGD:9068941	20200609	RGD		protein:polymorphism:N363S	PMID:16725041|REF_RGD_ID:1601498
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9975	cocaine dependence		ISO	RGD:2741	D	RGD:9068941	20241031	RGD		mRNA:decreased expression:adenohypophysis	PMID:12892653|REF_RGD_ID:408345227
12148382	NR3C1	nuclear receptor subfamily 3 group C member 1	gene	DOID:9976	heroin dependence	disease_progression	ISO	RGD:1347163|RGD:731586	D	RGD:9068941	20250802	RGD		DNA:SNP:intron:rs10482672	PMID:29465008|REF_RGD_ID:402463944
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:0111922	spermatogenic failure 31		ISO	RGD:1345041	D	RGD:7240710	20190315	OMIM			
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:0111922	spermatogenic failure 31		ISO	RGD:1345041	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PMFBP1-related condition | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 31 | ClinVar Annotator: match by term: Spermatogenic failure 31 | ClinVar Annotator: match by term: spermatogenic failure 31	PMID:25741868
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1345041	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:14228	oligospermia		ISO	RGD:1345041	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868|PMID:30032984|PMID:30298696
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148415	PMFBP1	polyamine modulated factor 1 binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:0050840	cervical dystonia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISO	RGD:1604644	D	RGD:7240710	20180130	OMIM			
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:0060179	Renpenning syndrome		ISO	RGD:1604644	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GOLABI-ITO-HALL SYNDROME | ClinVar Annotator: match by term: Mental retardation, X-linked Renpenning  type | ClinVar Annotator: match by term: PQBP1-related condition | ClinVar Annotator: match by term: RENPENNING SYNDROME | ClinVar Annotator: match by term: Renpenning syndrome | ClinVar Annotator: match by term: Renpenning syndrome 1 | ClinVar Annotator: match by term: Sutherland-Haan syndrome	PMID:14634649|PMID:15024694|PMID:15355434|PMID:16493439|PMID:20950397|PMID:21267006|PMID:21315190|PMID:21836667|PMID:24088041|PMID:24781215|PMID:25741868|PMID:26467025|PMID:26633545|PMID:28492532|PMID:30143497|PMID:30244542|PMID:31230720|PMID:31840929|PMID:32041777|PMID:33668121|PMID:34470565|PMID:36478645|PMID:39932334|PMID:9545405
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:0060249	scoliosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604644	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25167861|PMID:25741868|PMID:28492532
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:21267006|PMID:24781215|PMID:25167861|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:10907	microcephaly		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:21267006|PMID:24781215|PMID:25741868|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1909	melanoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1604644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:327	syringomyelia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:630	genetic disease		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21267006|PMID:24781215|PMID:25741868|PMID:28492532|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9002969	Nevus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:28492532
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9004108	Fused Kidney		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Horseshoe kidney	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1604644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649|PMID:15024694
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1604644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14634649|PMID:16740914
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:21267006|PMID:24781215|PMID:25741868|PMID:30143497|PMID:31230720|PMID:33668121
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9008305	Talipes Cavus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes cavus	PMID:25741868
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12148464	PQBP1	polyglutamine binding protein 1	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1604644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:21267006|PMID:24781215|PMID:30143497|PMID:31230720|PMID:33668121
12148488	KIAA0930	KIAA0930	gene	DOID:0080600	COVID-19		ISO	RGD:1312287	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12148488	KIAA0930	KIAA0930	gene	DOID:10534	stomach cancer		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148488	KIAA0930	KIAA0930	gene	DOID:1115	sarcoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148488	KIAA0930	KIAA0930	gene	DOID:1324	lung cancer		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148488	KIAA0930	KIAA0930	gene	DOID:1909	melanoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148488	KIAA0930	KIAA0930	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148488	KIAA0930	KIAA0930	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148488	KIAA0930	KIAA0930	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148488	KIAA0930	KIAA0930	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312287	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148511	RHAG	Rh associated glycoprotein	gene	DOID:0050641	Rh deficiency syndrome		ISO	RGD:731598	D	RGD:7240710	20180130	OMIM			
12148511	RHAG	Rh associated glycoprotein	gene	DOID:0050641	Rh deficiency syndrome		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RH-NULL, REGULATOR TYPE | ClinVar Annotator: match by term: Rh-null, regulator type	PMID:10467273|PMID:25741868|PMID:28492532|PMID:32036089|PMID:9442063
12148511	RHAG	Rh associated glycoprotein	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:10467273|PMID:25741868|PMID:28492532
12148511	RHAG	Rh associated glycoprotein	gene	DOID:0111562	overhydrated hereditary stomatocytosis		ISO	RGD:731598	D	RGD:7240710	20180130	OMIM			
12148511	RHAG	Rh associated glycoprotein	gene	DOID:0111562	overhydrated hereditary stomatocytosis		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: OVERHYDRATED HEREDITARY STOMATOCYTOSIS | ClinVar Annotator: match by term: Overhydrated hereditary stomatocytosis | ClinVar Annotator: match by term: RHAG-related condition	PMID:10467273|PMID:25741868|PMID:28470789|PMID:28492532|PMID:9716608
12148511	RHAG	Rh associated glycoprotein	gene	DOID:11830	myopia		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10467273|PMID:25741868|PMID:28492532
12148511	RHAG	Rh associated glycoprotein	gene	DOID:1909	melanoma		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148511	RHAG	Rh associated glycoprotein	gene	DOID:583	hemolytic anemia		ISO	RGD:731598	D	RGD:9068941	20200609	RGD		Rh(null) syndrome, OMIM:180297	PMID:10467273|REF_RGD_ID:1599622
12148511	RHAG	Rh associated glycoprotein	gene	DOID:9000582	Reticulocytosis		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reticulocytosis	
12148511	RHAG	Rh associated glycoprotein	gene	DOID:9005369	Hepatomegaly		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	
12148511	RHAG	Rh associated glycoprotein	gene	DOID:9970	obesity		ISO	RGD:731598	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10467273|PMID:25741868|PMID:28492532
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:7240710	20230505	OMIM			
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:0070582	spermatogenic failure 83		ISO	RGD:1319504	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 83 | ClinVar Annotator: match by term: Spermatogenic failure 83	PMID:25741868
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319504	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:1909	melanoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12148525	DNALI1	dynein axonemal light intermediate chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:0060001	withdrawal disorder		ISO	RGD:737052	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18705688|PMID:19002671
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:10534	stomach cancer		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:11832	visual epilepsy		ISO	RGD:737052	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: therapeutic	PMID:25933444
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:12858	Huntington's disease		ISO	RGD:737052	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20929960
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:1324	lung cancer		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:1574	alcohol use disorder		ISO	RGD:61808	D	RGD:9068941	20250529	RGD		mRNA:decreased expression:amygdala	PMID:32057593|REF_RGD_ID:405096486
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:61808	D	RGD:9068941	20250605	RGD			PMID:29071769|REF_RGD_ID:408361844
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:303	substance-related disorder		ISO	RGD:737052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polysubstance abuse, susceptibility to	PMID:25741868
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:303	substance-related disorder	susceptibility	ISO	RGD:737052	D	RGD:7240710	20190502	OMIM			
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9001131	stress-related disorder	treatment	ISO	RGD:61808	D	RGD:9068941	20250605	RGD			PMID:29071769|REF_RGD_ID:408361844
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9004702	Pregnancy Complications		ISO	RGD:737052	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16886060
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737052	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9970	obesity		ISO	RGD:737052	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19103437|PMID:20716455
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9970	obesity		ISO	RGD:737052	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:15809662|REF_RGD_ID:1625726
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9974	drug dependence		ISO	RGD:737052	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Drug addiction, susceptibility to	PMID:25741868
12148534	FAAH	fatty acid amide hydrolase	gene	DOID:9975	cocaine dependence	sexual_dimorphism	ISO	RGD:61808	D	RGD:9068941	20250531	RGD		mRNA:decreased expression:hippocampus (rat)	PMID:34965406|REF_RGD_ID:616363144
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:10534	stomach cancer		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:1115	sarcoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:1909	melanoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:2394	ovarian cancer		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148553	PDIA4	protein disulfide isomerase family A member 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148567	ZNF467	zinc finger protein 467	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148567	ZNF467	zinc finger protein 467	gene	DOID:0060058	lymphoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12148567	ZNF467	zinc finger protein 467	gene	DOID:4362	cervical cancer		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148567	ZNF467	zinc finger protein 467	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:10534	stomach cancer		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:1115	sarcoma		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:1909	melanoma		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:3275	thymoma		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:4362	cervical cancer		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148590	TRMT61B	tRNA methyltransferase 61B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602887	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148605	PAX6	paired box 6	gene	DOID:0060282	persistent hyperplastic primary vitreous		ISO	RGD:11059	D	RGD:9068941	20210115	RGD		DNA:snp:cds:pN64K (mouse)	PMID:19345209|REF_RGD_ID:8551891
12148605	PAX6	paired box 6	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anterior segment dysgenesis	PMID:32499604
12148605	PAX6	paired box 6	gene	DOID:0060673	Peters anomaly		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:10234503|PMID:10887930|PMID:11479730|PMID:12552561|PMID:12634864|PMID:12721955|PMID:1345175|PMID:14744876|PMID:16199547|PMID:16785853|PMID:17406642|PMID:17568989|PMID:17576681|PMID:18241071|PMID:18483559|PMID:19218613|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22692063|PMID:23734086|PMID:23761016|PMID:24266705|PMID:24281366|PMID:24390526|PMID:25678763|PMID:25741868|PMID:26661695|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27455012|PMID:27463523|PMID:28018434|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29217025|PMID:29618921|PMID:29901133|PMID:29914532|PMID:30167917|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32214788|PMID:32360764|PMID:34101622|PMID:34415986|PMID:34942114|PMID:35052368|PMID:36980880|PMID:37191119|PMID:37217489|PMID:37510387|PMID:38219857|PMID:38459225|PMID:8111279|PMID:8111379|PMID:9138149|PMID:9482572|PMID:9536098|PMID:9792406|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:0070530	foveal hypoplasia 1		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:0070530	foveal hypoplasia 1		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH CATARACT | ClinVar Annotator: match by term: FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES AND/OR CATARACT | ClinVar Annotator: match by term: Foveal hypoplasia 1	PMID:10234503|PMID:12634864|PMID:14744876|PMID:15629294|PMID:16407227|PMID:18332330|PMID:18483559|PMID:22692063|PMID:23404109|PMID:25741868|PMID:26661695|PMID:27013732|PMID:28321846|PMID:28492532|PMID:32360764|PMID:37217489|PMID:8640214|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:0070532	aniridia 1		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:0070532	aniridia 1		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aniridia 1 | ClinVar Annotator: match by term: CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY	PMID:10234503|PMID:10330342|PMID:10477494|PMID:10694925|PMID:10737978|PMID:10887930|PMID:11284764|PMID:11479730|PMID:11553050|PMID:12015275|PMID:12388550|PMID:12552561|PMID:12634864|PMID:12721955|PMID:12782766|PMID:1302030|PMID:1345175|PMID:14744876|PMID:15020706|PMID:15086958|PMID:15579687|PMID:15889018|PMID:15901169|PMID:16199547|PMID:16617299|PMID:16712695|PMID:16785853|PMID:16803629|PMID:17406642|PMID:17417613|PMID:17568989|PMID:17576681|PMID:17630404|PMID:17679951|PMID:17893655|PMID:18241071|PMID:18332330|PMID:18414213|PMID:18483559|PMID:18776953|PMID:19218613|PMID:19862335|PMID:19876904|PMID:19898691|PMID:20054790|PMID:20577777|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21633710|PMID:21848007|PMID:21850189|PMID:22171686|PMID:22361317|PMID:22393275|PMID:22509105|PMID:22621390|PMID:22692063|PMID:22893676|PMID:23517654|PMID:23734086|PMID:23761016|PMID:23942204|PMID:24138039|PMID:24266705|PMID:24281366|PMID:24390526|PMID:24623969|PMID:24737507|PMID:25678763|PMID:25741868|PMID:26535646|PMID:26661695|PMID:26694549|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27081561|PMID:27307692|PMID:27455012|PMID:27463523|PMID:27878435|PMID:28018434|PMID:28321846|PMID:28488383|PMID:28492532|PMID:28559085|PMID:28760551|PMID:29145603|PMID:29178648|PMID:29217025|PMID:29618921|PMID:29780932|PMID:29901133|PMID:29914532|PMID:30167917|PMID:30291432|PMID:30315214|PMID:30986449|PMID:31106028|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32214788|PMID:32360764|PMID:32467297|PMID:32857266|PMID:32883240|PMID:33169869|PMID:33494148|PMID:33594928|PMID:33782094|PMID:34065151|PMID:34101622|PMID:34174135|PMID:34345029|PMID:34415986|PMID:34942114|PMID:35052368|PMID:35716026|PMID:36582291|PMID:36980880|PMID:37191119|PMID:37217489|PMID:37510387|PMID:38219857|PMID:38459225|PMID:39212610|PMID:7550230|PMID:7666404|PMID:7909985|PMID:8111279|PMID:8111379|PMID:8364574|PMID:9138149|PMID:9281415|PMID:9452088|PMID:9482572|PMID:9536098|PMID:9727514|PMID:9792406|PMID:9856761|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:0080610	anterior segment dysgenesis 5		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:0080610	anterior segment dysgenesis 5		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5 | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES | ClinVar Annotator: match by term: ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE	PMID:10234503|PMID:10887930|PMID:11479730|PMID:12634864|PMID:12721955|PMID:1345175|PMID:14744876|PMID:16199547|PMID:16785853|PMID:17406642|PMID:17576681|PMID:18483559|PMID:19218613|PMID:19862335|PMID:19876904|PMID:19898691|PMID:2080308|PMID:21397818|PMID:21423868|PMID:21850189|PMID:22171686|PMID:22692063|PMID:23761016|PMID:24266705|PMID:24390526|PMID:25678763|PMID:25741868|PMID:26661695|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27455012|PMID:27463523|PMID:28018434|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29618921|PMID:29901133|PMID:29914532|PMID:30167917|PMID:31161946|PMID:31700164|PMID:32080308|PMID:32360764|PMID:34101622|PMID:34415986|PMID:34942114|PMID:35052368|PMID:37191119|PMID:37217489|PMID:38459225|PMID:8111279|PMID:8111379|PMID:9536098|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:0110233	cataract 27		ISO	RGD:737459	D	RGD:9068941	20210115	RGD		associated with Cataract;DNA:nonsense mutation:cds:p.R103X (human)	PMID:22393272|REF_RGD_ID:8552277
12148605	PAX6	paired box 6	gene	DOID:0111383	autosomal dominant keratitis		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:0111383	autosomal dominant keratitis		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal dominant keratitis | ClinVar Annotator: match by term: KERATITIS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Keratitis, hereditary	PMID:10234503|PMID:12634864|PMID:14744876|PMID:16407227|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:27013732|PMID:28321846|PMID:28492532|PMID:31161946|PMID:37217489|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:0111531	bilateral optic nerve hypoplasia		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:0111531	bilateral optic nerve hypoplasia		ISO	RGD:737459	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Bilateral optic nerve hypoplasia | ClinVar Annotator: match by term: OPTIC NERVE APLASIA, BILATERAL | ClinVar Annotator: match by term: OPTIC NERVE HYPOPLASIA, BILATERAL	PMID:10234503|PMID:12634864|PMID:12721955|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28488383|PMID:28492532
12148605	PAX6	paired box 6	gene	DOID:0111578	Gillespie syndrome		ISO	RGD:737459	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Gillespie syndrome	PMID:25741868|PMID:26899008
12148605	PAX6	paired box 6	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:737459	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26893459|PMID:28492532|PMID:9727514
12148605	PAX6	paired box 6	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:737459	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:26604670|PMID:26893459|PMID:28492532|PMID:9727514
12148605	PAX6	paired box 6	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:16407227|PMID:28492532|PMID:31161946
12148605	PAX6	paired box 6	gene	DOID:1059	intellectual disability		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12634864|PMID:21423868|PMID:25741868|PMID:28492532
12148605	PAX6	paired box 6	gene	DOID:10603	glucose intolerance		ISO	RGD:737459	D	RGD:9068941	20210115	RGD		associated with Aniridia;DNA:nonsense mutation:cds:p.R240X (human)	PMID:19034419|REF_RGD_ID:2308929
12148605	PAX6	paired box 6	gene	DOID:10629	microphthalmia		ISO	RGD:737459	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anophthalmia - microphthalmia	PMID:12868034|PMID:15086958|PMID:16407227|PMID:17417613|PMID:18776953|PMID:25741868|PMID:28492532|PMID:29178648|PMID:9727514
12148605	PAX6	paired box 6	gene	DOID:10629	microphthalmia		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anophthalmia - microphthalmia | ClinVar Annotator: match by term: Microphthalmia	PMID:16407227|PMID:28492532|PMID:29178648
12148605	PAX6	paired box 6	gene	DOID:1068	juvenile glaucoma		ISO	RGD:11059	D	RGD:9068941	20220825	MouseDO			
12148605	PAX6	paired box 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148605	PAX6	paired box 6	gene	DOID:1115	sarcoma		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148605	PAX6	paired box 6	gene	DOID:11830	myopia		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12148605	PAX6	paired box 6	gene	DOID:11975	coloboma of optic nerve		ISO	RGD:737459	D	RGD:7240710	20210113	OMIM			
12148605	PAX6	paired box 6	gene	DOID:11975	coloboma of optic nerve		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma of optic nerve | ClinVar Annotator: match by term: Congenital coloboma of the optic nerve	PMID:10234503|PMID:12634864|PMID:14744876|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:27013732|PMID:28321846|PMID:28492532|PMID:37217489|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:12270	coloboma		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Coloboma, ocular, autosomal dominant	PMID:10234503|PMID:12634864|PMID:14744876|PMID:17406642|PMID:18483559|PMID:19218613|PMID:19876904|PMID:22692063|PMID:25741868|PMID:26661695|PMID:27013732|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29914532|PMID:31700164|PMID:34415986|PMID:37217489|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:12271	aniridia		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANIRIDIA | ClinVar Annotator: match by term: Aniridia | ClinVar Annotator: match by term: Aniridia, atypical | ClinVar Annotator: match by term: Congenital aniridia	PMID:10887930|PMID:12634864|PMID:1345175|PMID:14744876|PMID:17406642|PMID:17576681|PMID:19218613|PMID:19862335|PMID:19876904|PMID:21423868|PMID:21850189|PMID:22171686|PMID:22692063|PMID:23761016|PMID:24390526|PMID:25678763|PMID:25741868|PMID:26849621|PMID:27013732|PMID:27081502|PMID:27455012|PMID:27463523|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29618921|PMID:29901133|PMID:29914532|PMID:31700164|PMID:32214788|PMID:32360764|PMID:34415986|PMID:34942114|PMID:35052368|PMID:37191119|PMID:37217489|PMID:38459225|PMID:9536098|PMID:9931324
12148605	PAX6	paired box 6	gene	DOID:12271	aniridia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:deletion, snp:cds:p.R38GfsX16, p.S121L (human)	PMID:23734086|REF_RGD_ID:8551856
12148605	PAX6	paired box 6	gene	DOID:12271	aniridia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:deletion:cds:p.Q297HfsX68 (human)	PMID:22171157|REF_RGD_ID:8551859
12148605	PAX6	paired box 6	gene	DOID:12271	aniridia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:deletion:cds:p.R38PfsX12 (human)	PMID:20664694|REF_RGD_ID:8551858
12148605	PAX6	paired box 6	gene	DOID:12271	aniridia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:nonsense mutation:cds:p.R240X (human)	PMID:22815628|REF_RGD_ID:8551860
12148605	PAX6	paired box 6	gene	DOID:1229	paranoid schizophrenia		ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:repeats:promoter: (human)	PMID:10376119|REF_RGD_ID:1358554
12148605	PAX6	paired box 6	gene	DOID:12849	autistic disorder		ISO	RGD:3258	D	RGD:9068941	20210115	RGD			PMID:21203536|REF_RGD_ID:8552339
12148605	PAX6	paired box 6	gene	DOID:12849	autistic disorder		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:18322702
12148605	PAX6	paired box 6	gene	DOID:14515	WAGR syndrome		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 11p partial monosomy syndrome | ClinVar Annotator: match by term: WAGR Complex | ClinVar Annotator: match by term: Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome	PMID:10234503|PMID:12634864|PMID:18483559|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28492532
12148605	PAX6	paired box 6	gene	DOID:14692	Smith-Lemli-Opitz syndrome		ISO	RGD:3258	D	RGD:9068941	20210115	RGD		protein:altered expression:embryo, forebrain, hindbrain (rat)	PMID:10564872|REF_RGD_ID:8552380
12148605	PAX6	paired box 6	gene	DOID:1891	optic nerve disease		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:12721955
12148605	PAX6	paired box 6	gene	DOID:1909	melanoma		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148605	PAX6	paired box 6	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3258	D	RGD:9068941	20210115	RGD		protein:increased expression:cerebral cortex, striatum, astroglial cell (rat)	PMID:24114637|REF_RGD_ID:8552354
12148605	PAX6	paired box 6	gene	DOID:2513	basal cell carcinoma		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma	
12148605	PAX6	paired box 6	gene	DOID:3275	thymoma		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148605	PAX6	paired box 6	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:737459	D	RGD:9068941	20210115	RGD		protein:increased expression:pancreatic duct (human)	PMID:17849422|REF_RGD_ID:8552381
12148605	PAX6	paired box 6	gene	DOID:4362	cervical cancer		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148605	PAX6	paired box 6	gene	DOID:5723	optic atrophy		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12148605	PAX6	paired box 6	gene	DOID:630	genetic disease		ISO	RGD:737459	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10887930|PMID:12634864|PMID:22171686|PMID:24390526|PMID:25678763|PMID:25741868|PMID:27463523|PMID:28321846|PMID:28492532|PMID:28760551|PMID:29618921|PMID:29901133|PMID:32360764|PMID:34065151|PMID:34942114|PMID:35052368|PMID:37191119|PMID:38459225|PMID:7550230
12148605	PAX6	paired box 6	gene	DOID:630	genetic disease		ISO	RGD:737459	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10887930|PMID:12634864|PMID:22171686|PMID:24390526|PMID:25678763|PMID:25741868|PMID:27463523|PMID:28321846|PMID:28492532|PMID:28760551|PMID:29618921|PMID:29901133|PMID:32360764|PMID:34065151|PMID:34942114|PMID:35052368|PMID:37191119|PMID:38459225
12148605	PAX6	paired box 6	gene	DOID:674	cleft palate		ISO	RGD:737459	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:18483559|PMID:22621390|PMID:25741868|PMID:36582291|PMID:7909985
12148605	PAX6	paired box 6	gene	DOID:83	cataract		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:12634864|PMID:21423868|PMID:25741868|PMID:28492532
12148605	PAX6	paired box 6	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12148605	PAX6	paired box 6	gene	DOID:9001575	IRIS COLOBOMA		ISO	RGD:737459	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Iris coloboma	PMID:25741868|PMID:32214788|PMID:7958875
12148605	PAX6	paired box 6	gene	DOID:9001923	Foveal Hypoplasia		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Foveal hypoplasia	PMID:12634864|PMID:25741868|PMID:28321846|PMID:28492532|PMID:32360764
12148605	PAX6	paired box 6	gene	DOID:9002189	High Myopia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human)	PMID:21589860|REF_RGD_ID:8552263
12148605	PAX6	paired box 6	gene	DOID:9002189	High Myopia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:snp:intron:IVS11+393C>A (rs644242) (human)	PMID:23213273|REF_RGD_ID:8552307
12148605	PAX6	paired box 6	gene	DOID:9002189	High Myopia	susceptibility	ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human)	PMID:19124844|REF_RGD_ID:8552290
12148605	PAX6	paired box 6	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12148605	PAX6	paired box 6	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:26213588
12148605	PAX6	paired box 6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12148605	PAX6	paired box 6	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19329571
12148605	PAX6	paired box 6	gene	DOID:9007943	Microphthalmia/Coloboma 12		ISO	RGD:737459	D	RGD:7240710	20240320	OMIM			
12148605	PAX6	paired box 6	gene	DOID:9007943	Microphthalmia/Coloboma 12		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 12 | ClinVar Annotator: match by term: Microphthalmia/coloboma 12	PMID:10234503|PMID:12634864|PMID:17406642|PMID:18483559|PMID:19218613|PMID:19876904|PMID:22692063|PMID:25741868|PMID:26661695|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29914532|PMID:31700164|PMID:34415986
12148605	PAX6	paired box 6	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:12634864|PMID:21423868|PMID:25741868|PMID:28492532
12148605	PAX6	paired box 6	gene	DOID:9008091	Optic Nerve Injuries		ISO	RGD:3258	D	RGD:9068941	20210115	RGD		protein:increased expression:retina (rat)	PMID:23297010|REF_RGD_ID:8552379
12148605	PAX6	paired box 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:3258	D	RGD:9068941	20210115	RGD			PMID:9247338|REF_RGD_ID:731242
12148605	PAX6	paired box 6	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:737459	D	RGD:9068941	20210115	RGD			PMID:10441571|PMID:12721955|REF_RGD_ID:1601210|REF_RGD_ID:1601211
12148605	PAX6	paired box 6	gene	DOID:9008582	Developmental Disease		ISO	RGD:737459	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12148605	PAX6	paired box 6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:7559133|PMID:9079035|PMID:9363853
12148605	PAX6	paired box 6	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:7559133|PMID:9363853
12148605	PAX6	paired box 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737459	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:17576681|PMID:28492532|PMID:9536098
12148605	PAX6	paired box 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3258	D	RGD:9068941	20250820	RGD		associated with ZDF-Leprfa/Crl strain; mRNA:altered expression:pancreatic islet	PMID:16772326|REF_RGD_ID:1599258
12148605	PAX6	paired box 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737459	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12148605	PAX6	paired box 6	gene	DOID:9649	congenital nystagmus		ISO	RGD:737459	D	RGD:9068941	20210115	RGD		DNA:snp:intron:IVS4+5G>C (human)	PMID:15629294|REF_RGD_ID:8552281
12148605	PAX6	paired box 6	gene	DOID:9650	pathologic nystagmus		ISO	RGD:737459	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Pendular nystagmus	PMID:12634864|PMID:17406642|PMID:19218613|PMID:19876904|PMID:21423868|PMID:25741868|PMID:28321846|PMID:28492532|PMID:29145603|PMID:29914532|PMID:31700164|PMID:32360764|PMID:34415986
12148607	LCT	lactase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:0060058	lymphoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:0060180	colitis		ISO	RGD:620823	D	RGD:9068941	20200609	RGD		protein:decreased expression, increased expression:jejunum	PMID:17218984|REF_RGD_ID:1600240
12148607	LCT	lactase	gene	DOID:0111646	congenital lactase deficiency		ISO	RGD:1344800	D	RGD:7240710	20180130	OMIM			
12148607	LCT	lactase	gene	DOID:0111646	congenital lactase deficiency		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital lactase deficiency | ClinVar Annotator: match by term: LACTASE DEFICIENCY, CONGENITAL | ClinVar Annotator: match by term: LCT-related condition	PMID:16199547|PMID:16400612|PMID:17576681|PMID:19161632|PMID:23103231|PMID:25741868|PMID:25881162|PMID:28492532|PMID:30813293|PMID:9536098
12148607	LCT	lactase	gene	DOID:10604	lactose intolerance		ISO	RGD:1344800	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25741868
12148607	LCT	lactase	gene	DOID:1115	sarcoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1344800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12148607	LCT	lactase	gene	DOID:13250	diarrhea		ISO	RGD:620823	D	RGD:9068941	20200609	RGD			PMID:15977434|REF_RGD_ID:1600253
12148607	LCT	lactase	gene	DOID:1909	melanoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:3275	thymoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:4362	cervical cancer		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:5041	esophageal cancer		ISO	RGD:1344800	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:630	genetic disease		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12148607	LCT	lactase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148607	LCT	lactase	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1344800	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
12148607	LCT	lactase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:620823	D	RGD:9068941	20200609	RGD			PMID:16021836|REF_RGD_ID:1600251
12148607	LCT	lactase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12148607	LCT	lactase	gene	DOID:9256	colorectal cancer		ISO	RGD:1344800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:11830	myopia		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:1909	melanoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:3275	thymoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317427	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1317427	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:8501	fundus dystrophy		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1317427	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1317427	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1317427	D	RGD:9068941	20201211	RGD		DNA:SNP:exon: p.Ser1254Asn (human)	PMID:22610944|REF_RGD_ID:40886317
12148638	CEMIP2	cell migration inducing hyaluronidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317427	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:10534	stomach cancer		ISO	RGD:1346889	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:1115	sarcoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:1909	melanoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:4362	cervical cancer		ISO	RGD:1346889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346889	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12148673	C1RL	complement C1r subcomponent like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346889	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:10534	stomach cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148691	INO80D	INO80 complex subunit D	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148691	INO80D	INO80 complex subunit D	gene	DOID:1115	sarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:1909	melanoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148691	INO80D	INO80 complex subunit D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148691	INO80D	INO80 complex subunit D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606537	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:0051009	congenital nonspherocytic hemolytic anemia 10		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hemolytic anemia due to glutathione reductase deficiency	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1323172	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:0060260	ptosis		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:1059	intellectual disability		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:10608	celiac disease		ISO	RGD:1323172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190752
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:10907	microcephaly		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:12849	autistic disorder		ISO	RGD:1323172	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:1909	melanoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:3347	osteosarcoma		ISO	RGD:1323172	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:34508303
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323172	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:630	genetic disease		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33057194|PMID:35982159
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:783	end stage renal disease	susceptibility	ISO	RGD:1323172	D	RGD:9068941	20241226	RGD		associated with type 1 diabetes mellitus;DNA:SNP:5'UTR:rs1749824(human)	PMID:19929986|REF_RGD_ID:596936222
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9001002	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES		ISO	RGD:1323172	D	RGD:7240710	20200115	OMIM			
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9001002	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies | ClinVar Annotator: match by term: ZMIZ1-related condition	PMID:25741868|PMID:28492532|PMID:29758562|PMID:30639322|PMID:38117436|PMID:38686122
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9001031	Retrognathia		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9001502	Congenital Microtia		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microtia	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9001581	Constipation		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1323172	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532|PMID:30639322
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30639322
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1323172	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24836286
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1323172	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12148712	ZMIZ1	zinc finger MIZ-type containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323172	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148762	FAM161B	FAM161 centrosomal protein B	gene	DOID:3275	thymoma		ISO	RGD:1319187	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148762	FAM161B	FAM161 centrosomal protein B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319187	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:1059	intellectual disability		ISO	RGD:1351703	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:10907	microcephaly		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:1115	sarcoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:12849	autistic disorder		ISO	RGD:14351525	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:21681106|PMID:30208311
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:1826	epilepsy		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizures	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:1909	melanoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1351703	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:30595499|PMID:32409512|PMID:35346031|PMID:35503477
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:540	strabismus		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:630	genetic disease		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:30595499|PMID:31833172
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9001418	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES		ISO	RGD:1351703	D	RGD:7240710	20220209	OMIM			
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9001418	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies | ClinVar Annotator: match by term: TFE3-related disorder	PMID:25741868|PMID:28492532|PMID:29758562|PMID:30595499|PMID:31833172|PMID:32409512
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30595499|PMID:31833172|PMID:32409512
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006749	Renal Cell Carcinoma, Xp11-Associated		ISO	RGD:1351703	D	RGD:7240710	20180130	OMIM			
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006749	Renal Cell Carcinoma, Xp11-Associated		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma, Xp11-associated	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148779	TFE3	transcription factor binding to IGHM enhancer 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148797	NIPAL2	NIPA like domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148797	NIPAL2	NIPA like domain containing 2	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12148797	NIPAL2	NIPA like domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148797	NIPAL2	NIPA like domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148797	NIPAL2	NIPA like domain containing 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1605636	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12148818	PDZD4	PDZ domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:0080600	COVID-19		ISO	RGD:1343770	D	RGD:9068941	20200611	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12148818	PDZD4	PDZ domain containing 4	gene	DOID:0111428	essential tremor 1		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hand tremor	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:1059	intellectual disability		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:10907	microcephaly		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:12849	autistic disorder		ISO	RGD:1343770	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:480	movement disease		ISO	RGD:1343770	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Movement disorder	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:9004998	Kyphoscoliosis		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kyphoscoliosis	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12148818	PDZD4	PDZ domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148835	ATN1	atrophin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148835	ATN1	atrophin 1	gene	DOID:0050847	sleep apnea		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148835	ATN1	atrophin 1	gene	DOID:0060162	dentatorubral-pallidoluysian atrophy		ISO	RGD:1352790	D	RGD:7240710	20180725	OMIM			
12148835	ATN1	atrophin 1	gene	DOID:0060246	MASA syndrome		ISO	RGD:1352790	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked hydrocephalus syndrome	PMID:25741868
12148835	ATN1	atrophin 1	gene	DOID:0060321	umbilical hernia		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868
12148835	ATN1	atrophin 1	gene	DOID:10907	microcephaly		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:25741868
12148835	ATN1	atrophin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12148835	ATN1	atrophin 1	gene	DOID:1909	melanoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148835	ATN1	atrophin 1	gene	DOID:3275	thymoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148835	ATN1	atrophin 1	gene	DOID:5419	schizophrenia		ISO	RGD:1352790	D	RGD:9068941	20200609	RGD			PMID:9184318|REF_RGD_ID:1358440
12148835	ATN1	atrophin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148835	ATN1	atrophin 1	gene	DOID:630	genetic disease		ISO	RGD:1352790	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28135719|PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148835	ATN1	atrophin 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1352790	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10814707
12148835	ATN1	atrophin 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:30827498
12148835	ATN1	atrophin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148835	ATN1	atrophin 1	gene	DOID:9007455	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies		ISO	RGD:1352790	D	RGD:7240710	20190814	OMIM			
12148835	ATN1	atrophin 1	gene	DOID:9007455	Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies		ISO	RGD:1352790	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATN1-related condition | ClinVar Annotator: match by term: CONGENITAL HYPOTONIA, EPILEPSY, DEVELOPMENTAL DELAY, AND DIGITAL ANOMALIES | ClinVar Annotator: match by term: Congenital ATN1 related disorder | ClinVar Annotator: match by term: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	PMID:25741868|PMID:30827498|PMID:34212383
12148835	ATN1	atrophin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:30827498
12148862	ZNF565	zinc finger protein 565	gene	DOID:5419	schizophrenia		ISO	RGD:1344264	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12148862	ZNF565	zinc finger protein 565	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148862	ZNF565	zinc finger protein 565	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344264	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:0080600	COVID-19		ISO	RGD:1352747	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:10579	leukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:11102997|PMID:11336405|PMID:11748843|PMID:15800013|PMID:16415970|PMID:17542813|PMID:25741868|PMID:28492532|PMID:7717396|PMID:7825602
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:7240710	20180130	OMIM			
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy	PMID:10190819|PMID:10227685|PMID:10480364|PMID:10551832|PMID:10737980|PMID:10815658|PMID:10980539|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11330045|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:12175782|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15032602|PMID:15284851|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:15878823|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16401743|PMID:16415970|PMID:16672758|PMID:16949688|PMID:16996397|PMID:17029209|PMID:17202797|PMID:17285533|PMID:17504626|PMID:17542813|PMID:17576681|PMID:17990484|PMID:18306728|PMID:18973459|PMID:19129531|PMID:19892975|PMID:20008255|PMID:20195870|PMID:20301491|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:20849526|PMID:20859061|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:22483867|PMID:22914231|PMID:23154058|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23566833|PMID:23566848|PMID:23664929|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:24154795|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25118695|PMID:25275259|PMID:25741868|PMID:26227820|PMID:26260157|PMID:26388597|PMID:26454440|PMID:26467025|PMID:26523528|PMID:26607867|PMID:26609365|PMID:27067449|PMID:27489563|PMID:27766264|PMID:27934597|PMID:28089346|PMID:28456143|PMID:28492532|PMID:28503596|PMID:28708278|PMID:28953922|PMID:28991658|PMID:29284317|PMID:29443243|PMID:29557549|PMID:30069915|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31316545|PMID:31777199|PMID:32003821|PMID:32207279|PMID:32954314|PMID:33920672|PMID:34008892|PMID:34946879|PMID:35196747|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7561948|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849718|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8048932|PMID:8353949|PMID:8441467|PMID:8535452|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9051655|PMID:9088111|PMID:9195223|PMID:9212180|PMID:9242200|PMID:9425230|PMID:9452087|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9894883
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ABCD1-related condition | ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY | ClinVar Annotator: match by term: ADRENOMYELONEUROPATHY | ClinVar Annotator: match by term: Adrenoleukodystrophy | ClinVar Annotator: match by term: SIEMERLING-CREUTZFELDT DISEASE | ClinVar Annotator: match by term: X-linked adrenoleukodystrophy | ClinVar Annotator: match by term: X-linked cerebral adrenoleukodystrophy	PMID:1|PMID:10190819|PMID:10369742|PMID:10480364|PMID:10737980|PMID:10815658|PMID:10980309|PMID:11063720|PMID:11102997|PMID:11220738|PMID:11248239|PMID:11310629|PMID:11336405|PMID:11438993|PMID:11739809|PMID:11748843|PMID:11798073|PMID:11810273|PMID:11968085|PMID:12175782|PMID:12402273|PMID:12530690|PMID:12624723|PMID:12913200|PMID:14533738|PMID:14586615|PMID:14713218|PMID:14767898|PMID:1481812|PMID:15192815|PMID:15284851|PMID:15333254|PMID:15388659|PMID:15564782|PMID:15643618|PMID:15800013|PMID:15811009|PMID:15812458|PMID:16018167|PMID:16023551|PMID:16087056|PMID:16199547|PMID:16415970|PMID:16949688|PMID:16996397|PMID:17285533|PMID:17498713|PMID:17542813|PMID:17576681|PMID:18206987|PMID:18306728|PMID:19129531|PMID:19325113|PMID:19660195|PMID:19963315|PMID:20008255|PMID:20301491|PMID:20376793|PMID:20455653|PMID:20626745|PMID:20661612|PMID:20800589|PMID:21068741|PMID:21300044|PMID:21476988|PMID:21478203|PMID:21488864|PMID:21586746|PMID:21700483|PMID:21889498|PMID:21907609|PMID:21966424|PMID:21987553|PMID:22120190|PMID:22176151|PMID:22198747|PMID:22280810|PMID:22366764|PMID:22479560|PMID:23300730|PMID:23419472|PMID:23430809|PMID:23469258|PMID:23566848|PMID:23651979|PMID:23671276|PMID:23712774|PMID:23768953|PMID:23835273|PMID:23926373|PMID:24480483|PMID:24685009|PMID:24719134|PMID:24722136|PMID:24788897|PMID:25275259|PMID:25324868|PMID:25423669|PMID:25741868|PMID:25835712|PMID:25999754|PMID:26227820|PMID:26260157|PMID:26266984|PMID:26388597|PMID:26454440|PMID:26467025|PMID:27248780|PMID:27423567|PMID:27489563|PMID:27779215|PMID:28086082|PMID:28216041|PMID:28456143|PMID:28481932|PMID:28492532|PMID:28503596|PMID:28708278|PMID:29056270|PMID:29390592|PMID:29443243|PMID:30069915|PMID:30487145|PMID:30544401|PMID:30546814|PMID:30902905|PMID:31069529|PMID:31074578|PMID:31104286|PMID:31227335|PMID:31526374|PMID:31557422|PMID:31777199|PMID:32003821|PMID:32101828|PMID:32954314|PMID:33151932|PMID:33359056|PMID:33920672|PMID:34012265|PMID:34013890|PMID:34426522|PMID:34649108|PMID:34826210|PMID:34946879|PMID:34997422|PMID:35053399|PMID:35076462|PMID:35466195|PMID:36046390|PMID:37567036|PMID:37977233|PMID:39803877|PMID:39825153|PMID:40759493|PMID:40786219|PMID:41166774|PMID:6728562|PMID:6795626|PMID:7202134|PMID:7581394|PMID:7668254|PMID:7677014|PMID:7717396|PMID:7811247|PMID:7825602|PMID:7849723|PMID:7860075|PMID:7894167|PMID:7904210|PMID:7998779|PMID:8040304|PMID:8353949|PMID:8441467|PMID:8535450|PMID:8566952|PMID:8621506|PMID:8651290|PMID:8773611|PMID:8888042|PMID:8892025|PMID:9088111|PMID:9425230|PMID:9536098|PMID:9553942|PMID:9556301|PMID:9584268|PMID:9894883
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:10588	adrenoleukodystrophy	susceptibility	ISO	RGD:1352747	D	RGD:9068941	20200609	RGD			PMID:8048932|REF_RGD_ID:1598655
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:630	genetic disease		ISO	RGD:1352747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11438993|PMID:11748843|PMID:15811009|PMID:16949688|PMID:22479560|PMID:23430809|PMID:24920594|PMID:25741868|PMID:26454440|PMID:26467025|PMID:28492532|PMID:30487145|PMID:33151932|PMID:33920672|PMID:34426522
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mental deterioration	
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenal insufficiency	PMID:10369742|PMID:15800013|PMID:20661612|PMID:25741868|PMID:28481932|PMID:28492532
12148886	ABCD1	ATP binding cassette subfamily D member 1	gene	DOID:93	language disorder		ISO	RGD:1352747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:25741868|PMID:28953922
12148900	ZIC5	Zic family member 5	gene	DOID:0080074	neural tube defect		ISO	RGD:1320899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136147
12148900	ZIC5	Zic family member 5	gene	DOID:4362	cervical cancer		ISO	RGD:1320899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148900	ZIC5	Zic family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12148900	ZIC5	Zic family member 5	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1320899	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15136147
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:1909	melanoma		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:4362	cervical cancer		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:5041	esophageal cancer		ISO	RGD:1346725	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:5419	schizophrenia		ISO	RGD:1346725	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.2627T>C rs1356787 (human)	PMID:19850283|REF_RGD_ID:5135429
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:9000051	PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY		ISO	RGD:1346725	D	RGD:7240710	20220713	OMIM			
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:9000051	PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY		ISO	RGD:1346725	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Phosphoribosylaminoimidazole carboxylase deficiency	PMID:25741868
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148929	PAICS	phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346725	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319732	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:10534	stomach cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:1115	sarcoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12148953	GPR35	G protein-coupled receptor 35	gene	DOID:9256	colorectal cancer		ISO	RGD:1319732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12148963	FANCE	FA complementation group E	gene	DOID:0111084	Fanconi anemia complementation group E		ISO	RGD:1354425	D	RGD:7240710	20180130	OMIM			
12148963	FANCE	FA complementation group E	gene	DOID:0111084	Fanconi anemia complementation group E		ISO	RGD:1354425	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: FANCE-related condition | ClinVar Annotator: match by term: FANCONI ANEMIA, COMPLEMENTATION GROUP E | ClinVar Annotator: match by term: Fanconi anemia complementation group E | ClinVar Annotator: match by term: Fanconi anemia, complementation group E	PMID:10205272|PMID:11001585|PMID:14695169|PMID:16199547|PMID:17308347|PMID:17576681|PMID:17924555|PMID:21279724|PMID:22778927|PMID:25741868|PMID:26689913|PMID:26822949|PMID:27913932|PMID:28492532|PMID:29625052|PMID:31102422|PMID:31586946|PMID:31839986|PMID:31980526|PMID:32487094|PMID:32947577|PMID:33084842|PMID:33224012|PMID:33270637|PMID:35295078|PMID:36398383|PMID:36463940|PMID:36622392|PMID:9536098
12148963	FANCE	FA complementation group E	gene	DOID:10907	microcephaly		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:1115	sarcoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148963	FANCE	FA complementation group E	gene	DOID:1324	lung cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12148963	FANCE	FA complementation group E	gene	DOID:13636	Fanconi anemia		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532|PMID:31586946|PMID:31980526
12148963	FANCE	FA complementation group E	gene	DOID:1520	colon carcinoma		ISO	RGD:1354425	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon	PMID:25058500|PMID:25741868|PMID:27165003|PMID:28492532|PMID:34687117
12148963	FANCE	FA complementation group E	gene	DOID:1612	breast cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868|PMID:28492532|PMID:33326660
12148963	FANCE	FA complementation group E	gene	DOID:2361	macrocytic anemia		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocytic anemia	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:2394	ovarian cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:4362	cervical cancer		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12148963	FANCE	FA complementation group E	gene	DOID:4905	pancreatic carcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Carcinoma of pancreas	PMID:11001585|PMID:17924555|PMID:21279724|PMID:25741868|PMID:26822949|PMID:28492532|PMID:31586946|PMID:31980526
12148963	FANCE	FA complementation group E	gene	DOID:5041	esophageal cancer		ISO	RGD:1354425	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12148963	FANCE	FA complementation group E	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1614308	D	RGD:9068941	20200609	RGD			PMID:26939056|REF_RGD_ID:11344915
12148963	FANCE	FA complementation group E	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1354425	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:25741868|PMID:33326660
12148963	FANCE	FA complementation group E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148963	FANCE	FA complementation group E	gene	DOID:630	genetic disease		ISO	RGD:1354425	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12148963	FANCE	FA complementation group E	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:9001425	Triphalangeal Thumb		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Triphalangeal thumb	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12148963	FANCE	FA complementation group E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12148963	FANCE	FA complementation group E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354425	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:10283	prostate cancer		ISO	RGD:1606774	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:10283	prostate cancer		ISO	RGD:1606774	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:10534	stomach cancer		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:1115	sarcoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:1909	melanoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:3275	thymoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12148991	ITIH5	inter-alpha-trypsin inhibitor heavy chain 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149008	MIR25	microRNA mir-25	gene	DOID:10591	pre-eclampsia		ISO	RGD:1351042	D	RGD:9068941	20230128	RGD		miRNA:increased expression:blood serum (human)	PMID:25017274|REF_RGD_ID:155882496
12149008	MIR25	microRNA mir-25	gene	DOID:3021	acute kidney failure		ISO	RGD:1351042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12149008	MIR25	microRNA mir-25	gene	DOID:5844	myocardial infarction		ISO	RGD:1607596	D	RGD:9068941	20230202	RGD		RNA:increased expression:myocardium:	PMID:28887629|REF_RGD_ID:155882580
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351042	D	RGD:9068941	20200609	RGD		associated with Chronic Hepatitis B;miRNA:increased expression:liver	PMID:27298561|REF_RGD_ID:15042853
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351042	D	RGD:9068941	20200609	RGD		associated with hepatitis B;miRNA:increased expression:serum (human)	PMID:21098710|REF_RGD_ID:15042899
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607596	D	RGD:9068941	20200609	RGD		associated with hepatitis B;miRNA:increased expression:serum (human)	PMID:21098710|REF_RGD_ID:15042899
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325594	D	RGD:9068941	20200609	RGD		associated with hepatitis B;miRNA:increased expression:serum (human)	PMID:21098710|REF_RGD_ID:15042899
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1351042	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1607596	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897
12149008	MIR25	microRNA mir-25	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:2325594	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:24593846|PMID:30191950|REF_RGD_ID:15039389|REF_RGD_ID:15042897
12149008	MIR25	microRNA mir-25	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1351042	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048643
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:0050460	Wolf-Hirschhorn syndrome		ISO	RGD:1354107	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolf-Hirschhorn Syndrome	PMID:25741868|PMID:28492532
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:0080600	COVID-19		ISO	RGD:1354107	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1354107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:10907	microcephaly		ISO	RGD:1354107	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:1909	melanoma		ISO	RGD:1354107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1354107	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:25741868|PMID:28492532|PMID:33443296
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:9001308	Wittwer Syndrome		ISO	RGD:1354107	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wittwer syndrome	PMID:25741868|PMID:28492532
12149011	FGFRL1	fibroblast growth factor receptor like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149100	RND1	Rho family GTPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149100	RND1	Rho family GTPase 1	gene	DOID:3275	thymoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149100	RND1	Rho family GTPase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12149100	RND1	Rho family GTPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314903	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149109	DCTN5	dynactin subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149109	DCTN5	dynactin subunit 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149109	DCTN5	dynactin subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149109	DCTN5	dynactin subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149109	DCTN5	dynactin subunit 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149109	DCTN5	dynactin subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603378	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:1909	melanoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:3275	thymoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1352738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1352738	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1352738	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149119	STRBP	spermatid perinuclear RNA binding protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352738	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0050425	restless legs syndrome		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0050562	West syndrome		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypsarrhythmia	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:27598823
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0050847	sleep apnea		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0060307	autosomal dominant intellectual developmental disorder		ISO	RGD:1551787	D	RGD:9068941	20220825	MouseDO			
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0070052	autosomal dominant intellectual developmental disorder 22		ISO	RGD:1346592	D	RGD:7240710	20180130	OMIM			
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:0070052	autosomal dominant intellectual developmental disorder 22		ISO	RGD:1346592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 22 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 22 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 22 | ClinVar Annotator: match by term: ZBTB18-Related Disorder | ClinVar Annotator: match by term: ZBTB18-related condition	PMID:24193349|PMID:25741868|PMID:27598823|PMID:28283832|PMID:28492532|PMID:29158550|PMID:29573576|PMID:31238879|PMID:31690835|PMID:33004838|PMID:33144682|PMID:33608456|PMID:36980980
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:10348	blepharophimosis		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1059	intellectual disability		ISO	RGD:1346592	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27598823|PMID:28283832
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1059	intellectual disability		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:27598823
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1059	intellectual disability		ISO	RGD:1346592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:10907	microcephaly		ISO	RGD:1346592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27598823|PMID:28492532|PMID:29573576|PMID:33004838
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1115	sarcoma		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:12215	oligohydramnios		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:12849	autistic disorder		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:14365	systemic primary carnitine deficiency disease		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal carnitine transport defect	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1826	epilepsy		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:1969	cerebral palsy		ISO	RGD:1346592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:2030	anxiety disorder		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:540	strabismus		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:27598823
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:630	genetic disease		ISO	RGD:1346592	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25356970|PMID:25741868|PMID:27598823|PMID:28492532
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9000641	Pain		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pain	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9004327	Colpocephaly		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:27598823
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346592	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9005077	Joint Instability		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint laxity	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Speech delay	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9006009	Neonatal Hypoglycemia, Simulating Foetopathia Diabetica		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypoglycemia	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1346592	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9006617	Fatigue		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1346592	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9007661	Dwarfism		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532|PMID:29573576|PMID:33004838
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:27598823|PMID:36937954
12149153	ZBTB18	zinc finger and BTB domain containing 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346592	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149163	RGS19	regulator of G protein signaling 19	gene	DOID:3070	high grade glioma		ISO	RGD:1353904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149163	RGS19	regulator of G protein signaling 19	gene	DOID:3275	thymoma		ISO	RGD:1353904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149163	RGS19	regulator of G protein signaling 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149163	RGS19	regulator of G protein signaling 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353904	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:0060058	lymphoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:10534	stomach cancer		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:1909	melanoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1352834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446963
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352834	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12149213	NFKBIE	NFKB inhibitor epsilon	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352834	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050558	Ullrich congenital muscular dystrophy		IAGP		D	RGD:12801476	20210603	OMIA		Muscular dystrophy, Ullrich type, COL6A1-related	PMID:26438297|PMID:24147807|PMID:33382107
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050663	Bethlem myopathy		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES | ClinVar Annotator: match by term: Myopathy, benign congenital, with contractures	PMID:15689448|PMID:15955946|PMID:16130093|PMID:16199547|PMID:17576681|PMID:18414213|PMID:19344236|PMID:19884007|PMID:20302629|PMID:20976770|PMID:20981092|PMID:24033266|PMID:24038877|PMID:24271325|PMID:25741868|PMID:26467025|PMID:27363342|PMID:27884173|PMID:28492532|PMID:28688748|PMID:29419890|PMID:30564623|PMID:30706156|PMID:32528171|PMID:7695699|PMID:8218237|PMID:9536098
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0060249	scoliosis		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1352880	D	RGD:7240710	20230621	OMIM			
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0060946	Ullrich congenital muscular dystrophy 1A		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A	PMID:15689448|PMID:16199547|PMID:18366090|PMID:18414213|PMID:19344236|PMID:20976770|PMID:21280092|PMID:24038877|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32528171|PMID:33963534|PMID:34008892|PMID:35533453|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1352880	D	RGD:7240710	20190327	OMIM			
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BETHLEM MYOPATHY 1A | ClinVar Annotator: match by term: Bethlem myopathy 1 | ClinVar Annotator: match by term: Bethlem myopathy 1A | ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: COL6A1-related disorder	PMID:10329467|PMID:10419498|PMID:11707460|PMID:11865138|PMID:11932968|PMID:15563506|PMID:15689448|PMID:15955946|PMID:16130093|PMID:16199547|PMID:16278855|PMID:16935502|PMID:17576681|PMID:17785673|PMID:18160674|PMID:18366090|PMID:18378883|PMID:18414213|PMID:18825676|PMID:19344236|PMID:19564581|PMID:19884007|PMID:20301676|PMID:20302629|PMID:20976770|PMID:20981092|PMID:21280092|PMID:22975586|PMID:23040494|PMID:23738969|PMID:24033266|PMID:24038877|PMID:24223098|PMID:24271325|PMID:25204870|PMID:25535305|PMID:25635128|PMID:25640679|PMID:25741868|PMID:25749816|PMID:26436962|PMID:26467025|PMID:27363342|PMID:27447704|PMID:27854213|PMID:27854218|PMID:27884173|PMID:28492532|PMID:28688748|PMID:28771251|PMID:28831785|PMID:28984114|PMID:29406609|PMID:29419890|PMID:30564623|PMID:30706156|PMID:31130284|PMID:31589614|PMID:32154989|PMID:32389683|PMID:32528171|PMID:33250842|PMID:33726816|PMID:34008892|PMID:34167565|PMID:35533453|PMID:38155714|PMID:39397694|PMID:7695699|PMID:8218237|PMID:9536098
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:0061198	Bethlem myopathy 1A	susceptibility	ISO	RGD:1352880	D	RGD:9068941	20200609	RGD		Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)	PMID:8782832|REF_RGD_ID:1600934
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1352880	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30564623|PMID:9536098
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:11162	respiratory failure		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Respiratory insufficiency	PMID:15689448|PMID:15955946|PMID:19344236|PMID:20302629|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:11836	clubfoot		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:12143	neurogenic bladder		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurogenic bladder	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1352880	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:13580	cholestasis		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:423	myopathy		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:11707460|PMID:15689448|PMID:15955946|PMID:16199547|PMID:18366090|PMID:18378883|PMID:20976770|PMID:21280092|PMID:25635128|PMID:25741868|PMID:27854213|PMID:28492532|PMID:28771251|PMID:28831785|PMID:32389683
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1352880	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9000058	Keloid		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9000727	Syncope		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:15689448|PMID:15955946|PMID:19344236|PMID:24038877|PMID:27363342|PMID:28492532|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1352880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9001581	Constipation		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1352880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9003816	Macrocephaly		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23692979
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1352880	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness | ClinVar Annotator: match by term: Progressive muscle weakness	PMID:11707460|PMID:15689448|PMID:15955946|PMID:18378883|PMID:19344236|PMID:24038877|PMID:25741868|PMID:27363342|PMID:28492532|PMID:28831785|PMID:32389683|PMID:7695699|PMID:8218237
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1352880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:25741868
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:936	brain disease		ISO	RGD:1352880	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:20302629|PMID:25741868|PMID:28492532
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9775	diastolic heart failure		ISO	RGD:1352880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12149221	COL6A1	collagen type VI alpha 1 chain	gene	DOID:9884	muscular dystrophy		ISO	RGD:1352880	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20716577
12149260	TRIM28	tripartite motif containing 28	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12149260	TRIM28	tripartite motif containing 28	gene	DOID:0060476	Perlman syndrome		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Predisposition to Wilms tumor	PMID:28492532
12149260	TRIM28	tripartite motif containing 28	gene	DOID:10283	prostate cancer		ISO	RGD:736265	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12149260	TRIM28	tripartite motif containing 28	gene	DOID:10283	prostate cancer		ISO	RGD:736265	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:10534	stomach cancer		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:1324	lung cancer		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:1936	atherosclerosis		ISO	RGD:736265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31351049
12149260	TRIM28	tripartite motif containing 28	gene	DOID:2154	nephroblastoma		ISO	RGD:736265	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Nephroblastoma | ClinVar Annotator: match by term: Wilms tumor 1 | ClinVar Annotator: match by term: Wilms tumor, somatic	PMID:25741868|PMID:28492532|PMID:32699065
12149260	TRIM28	tripartite motif containing 28	gene	DOID:3070	high grade glioma		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:4362	cervical cancer		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:5041	esophageal cancer		ISO	RGD:736265	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12149260	TRIM28	tripartite motif containing 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12149260	TRIM28	tripartite motif containing 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149260	TRIM28	tripartite motif containing 28	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736265	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12149260	TRIM28	tripartite motif containing 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12149260	TRIM28	tripartite motif containing 28	gene	DOID:9009381	Wilms Tumor 7		ISO	RGD:736265	D	RGD:7240710	20250910	OMIM			
12149260	TRIM28	tripartite motif containing 28	gene	DOID:9009381	Wilms Tumor 7		ISO	RGD:736265	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: WILMS TUMOR 7 | ClinVar Annotator: match by term: Wilms tumor 7	PMID:25741868|PMID:29912901
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:0060058	lymphoma		ISO	RGD:1553686	D	RGD:9068941	20240425	MouseDO			
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:1115	sarcoma		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:1967	leiomyosarcoma		ISO	RGD:1345409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645019
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:363	uterine cancer		ISO	RGD:1553686	D	RGD:9068941	20240425	MouseDO			
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1345409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23512162
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:1553686	D	RGD:9068941	20240425	MouseDO			
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1345409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18645019
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1345409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23512162
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1345409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23512162
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345409	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 2, susceptibility to	
12149281	HMGA1	high mobility group AT-hook 1	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1345409	D	RGD:7240710	20230505	OMIM			
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:10534	stomach cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:4362	cervical cancer		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:5041	esophageal cancer		ISO	RGD:1354307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1354307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:9000918	Disease Progression		ISO	RGD:1354307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12149291	PA2G4	proliferation-associated 2G4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323044	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149308	KDELR3	KDEL endoplasmic reticulum protein retention receptor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:1115	sarcoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:3275	thymoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319058	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149317	NCBP1	nuclear cap binding protein subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:1115	sarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:1324	lung cancer		ISO	RGD:1320865	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:1612	breast cancer	severity	ISO	RGD:1320865	D	RGD:9068941	20200609	RGD		in conjunction with E2f1 expression;mRNA:increased expression:breast (human	PMID:21453498|REF_RGD_ID:11530014
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:3275	thymoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:916	liver benign neoplasm		ISO	RGD:1320865	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:24056962|REF_RGD_ID:11530012
12149344	TUT4	terminal uridylyl transferase 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1320865	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12149399	PTGR3	prostaglandin reductase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149399	PTGR3	prostaglandin reductase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149399	PTGR3	prostaglandin reductase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149399	PTGR3	prostaglandin reductase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149399	PTGR3	prostaglandin reductase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320648	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:1115	sarcoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:1324	lung cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:1909	melanoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:4362	cervical cancer		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149408	LSM14A	LSM14A mRNA processing body assembly factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313874	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149434	DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	gene	DOID:13580	cholestasis		ISO	RGD:1602472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
12149434	DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	gene	DOID:630	genetic disease		ISO	RGD:1602472	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12149434	DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	gene	DOID:9004032	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT		ISO	RGD:1602472	D	RGD:7240710	20190315	OMIM			
12149434	DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	gene	DOID:9004032	HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT		ISO	RGD:1602472	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DNAJC12-related condition | ClinVar Annotator: match by term: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT	PMID:25741868|PMID:28132689|PMID:28492532|PMID:28794131|PMID:28892570|PMID:30626930|PMID:32333439
12149434	DNAJC12	DnaJ heat shock protein family (Hsp40) member C12	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1602472	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26881866
12149454	NRG3	neuregulin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149454	NRG3	neuregulin 3	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirschsprung Disease	
12149454	NRG3	neuregulin 3	gene	DOID:1115	sarcoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149454	NRG3	neuregulin 3	gene	DOID:5419	schizophrenia		ISO	RGD:1317640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20713722
12149454	NRG3	neuregulin 3	gene	DOID:5419	schizophrenia		ISO	RGD:1317641	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12149454	NRG3	neuregulin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149454	NRG3	neuregulin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149454	NRG3	neuregulin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149497	RPL35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:7240710	20190315	OMIM			
12149497	RPL35	ribosomal protein L35	gene	DOID:0111886	Diamond-Blackfan anemia 19		ISO	RGD:1353068	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia 19 | ClinVar Annotator: match by term: RPL35-related condition	PMID:28492532
12149497	RPL35	ribosomal protein L35	gene	DOID:10534	stomach cancer		ISO	RGD:1353068	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149497	RPL35	ribosomal protein L35	gene	DOID:3070	high grade glioma		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149497	RPL35	ribosomal protein L35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149497	RPL35	ribosomal protein L35	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1346589	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: oligoasthenoteratozoospermia	PMID:32376790
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1346589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0081277	diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	PMID:24705251|PMID:27993330|PMID:28912153
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0081316	primary intracranial sarcoma, DICER1-mutant		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary intracranial sarcoma, DICER1-mutant	PMID:27993330
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0111841	Shukla-Vernon syndrome		ISO	RGD:1346589	D	RGD:7240710	20190821	OMIM			
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:0111841	Shukla-Vernon syndrome		ISO	RGD:1346589	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BCORL1-related condition | ClinVar Annotator: match by term: SHUKLA-VERNON SYNDROME | ClinVar Annotator: match by term: Shukla-Vernon syndrome	PMID:23092983|PMID:24047651|PMID:24896186|PMID:25596268|PMID:25741868|PMID:26132940|PMID:26879601|PMID:26980726|PMID:27470916|PMID:28492532|PMID:29692343|PMID:33810051|PMID:34716235|PMID:35178361|PMID:36553572
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1346589	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: mild intellectual disability	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:10907	microcephaly		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:1115	sarcoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:12849	autistic disorder		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:1826	epilepsy		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:2154	nephroblastoma		ISO	RGD:1346589	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28825729
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1346589	D	RGD:9068941	20210903	RGD			PMID:26648304|REF_RGD_ID:11342082
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:4188	echolalia		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:4769	pleuropulmonary blastoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleuropulmonary blastoma	PMID:27993330
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:17379597|PMID:22210327|PMID:24705251|PMID:27993330|PMID:28912153|PMID:30051528
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346589	D	RGD:9068941	20260801	RGD			PMID:29679906|REF_RGD_ID:150340705
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1346589	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149505	BCORL1	BCL6 corepressor like 1	gene	DOID:9538	multiple myeloma		ISO	RGD:1346589	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1321869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:3275	thymoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149531	TGFBRAP1	transforming growth factor beta receptor associated protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149546	LOC482230	olfactory receptor 2L13	gene	DOID:3275	thymoma		ISO	RGD:1348735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149546	LOC482230	olfactory receptor 2L13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348735	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149546	LOC482230	olfactory receptor 2L13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348735	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605632	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149547	QSER1	glutamine and serine rich 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:3070	high grade glioma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149568	UBE2M	ubiquitin conjugating enzyme E2 M	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316910	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149578	GATA2	GATA binding protein 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
12149578	GATA2	GATA binding protein 2	gene	DOID:0050458	juvenile myelomonocytic leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile myelomonocytic leukemia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:23223431|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24578498|PMID:24782121|PMID:25239263|PMID:25359990|PMID:25741868|PMID:26264606|PMID:26492932|PMID:26702063|PMID:28104920|PMID:28492532|PMID:28825694|PMID:29724903|PMID:29882021|PMID:30578959|PMID:31106410|PMID:31256854|PMID:33370941|PMID:33417088|PMID:34529785|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myelodysplasia | ClinVar Annotator: match by term: Myelodysplastic syndrome | ClinVar Annotator: match by term: Myelodysplastic syndromes | ClinVar Annotator: match by term: myelodysplasia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22649106|PMID:22814295|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24514424|PMID:25241285|PMID:25359990|PMID:25619630|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26716079|PMID:26767875|PMID:27069254|PMID:27276561|PMID:27416790|PMID:27577878|PMID:28104920|PMID:28209719|PMID:28234738|PMID:28259234|PMID:28492532|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29724903|PMID:29882021|PMID:29947977|PMID:30190467|PMID:30280306|PMID:30564229|PMID:30578959|PMID:31106410|PMID:31246134|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31710708|PMID:32088370|PMID:32555368|PMID:32865708|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:34051752|PMID:34529785|PMID:34576178|PMID:38730328|PMID:453969|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome	severity	ISO	RGD:734291	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow:	PMID:12145700|REF_RGD_ID:10450753
12149578	GATA2	GATA binding protein 2	gene	DOID:0050908	myelodysplastic syndrome	susceptibility	ISO	RGD:734291	D	RGD:7240710	20260805	OMIM			
12149578	GATA2	GATA binding protein 2	gene	DOID:0080188	chronic myelomonocytic leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Chronic myelomonocytic leukemia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:23365458|PMID:23502222|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25359990|PMID:25741868|PMID:26264606|PMID:26492932|PMID:26702063|PMID:28104920|PMID:28492532|PMID:29724903|PMID:29882021|PMID:30578959|PMID:31106410|PMID:31256854|PMID:33417088|PMID:34529785|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:0111947	immunodeficiency 21		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency | ClinVar Annotator: match by term: GATA2 DEFICIENCY | ClinVar Annotator: match by term: IMMUNODEFICIENCY 21 | ClinVar Annotator: match by term: MONOCYTOPENIA AND MYCOBACTERIAL INFECTION SYNDROME | ClinVar Annotator: match by term: Monocytopenia with susceptibility to infections	PMID:16199547|PMID:17576681|PMID:18250304|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22147895|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22814295|PMID:22996659|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23560626|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24754962|PMID:25239263|PMID:25241285|PMID:25326637|PMID:25359990|PMID:25619630|PMID:25624456|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:27389056|PMID:27577878|PMID:27876779|PMID:27924436|PMID:28104920|PMID:28126493|PMID:28202063|PMID:28259234|PMID:28485484|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29077208|PMID:29146883|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31732620|PMID:31911633|PMID:32088370|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:33560389|PMID:34051752|PMID:34387894|PMID:34529785|PMID:34619682|PMID:34893945|PMID:35181392|PMID:35753512|PMID:35980532|PMID:36357187|PMID:37216690|PMID:37586297|PMID:37837580|PMID:38730328|PMID:8701948|PMID:9536098
12149578	GATA2	GATA binding protein 2	gene	DOID:0111947	immunodeficiency 21	susceptibility	ISO	RGD:734291	D	RGD:7240710	20260805	OMIM			
12149578	GATA2	GATA binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149578	GATA2	GATA binding protein 2	gene	DOID:10591	pre-eclampsia	onset	ISO	RGD:734291	D	RGD:9068941	20231019	RGD			PMID:30659233|REF_RGD_ID:401850546
12149578	GATA2	GATA binding protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149578	GATA2	GATA binding protein 2	gene	DOID:11830	myopia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
12149578	GATA2	GATA binding protein 2	gene	DOID:1222	cartilage disease		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
12149578	GATA2	GATA binding protein 2	gene	DOID:12449	aplastic anemia		ISO	RGD:734291	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:CD34+ cell	PMID:11328281|REF_RGD_ID:11049519
12149578	GATA2	GATA binding protein 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:27389056|PMID:35101336
12149578	GATA2	GATA binding protein 2	gene	DOID:1596	depressive disorder		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27276561|PMID:28492532|PMID:28654364|PMID:30190467
12149578	GATA2	GATA binding protein 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12149578	GATA2	GATA binding protein 2	gene	DOID:2355	anemia		ISO	RGD:69110	D	RGD:9068941	20260521	RGD			PMID:22996665|REF_RGD_ID:11049511
12149578	GATA2	GATA binding protein 2	gene	DOID:2841	asthma		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12149578	GATA2	GATA binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma	disease_progression	ISO	RGD:734291	D	RGD:9068941	20210716	RGD			PMID:25230694|REF_RGD_ID:149735195
12149578	GATA2	GATA binding protein 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:25741868|PMID:28492532
12149578	GATA2	GATA binding protein 2	gene	DOID:4977	lymphedema		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:16199547|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:22430350|PMID:22533337|PMID:23223431|PMID:23502222|PMID:24077845|PMID:24167460|PMID:24227816|PMID:24345756|PMID:25239263|PMID:25326637|PMID:25359990|PMID:25624456|PMID:25741868|PMID:25955867|PMID:26022708|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26710799|PMID:27577878|PMID:27680514|PMID:27799394|PMID:27876779|PMID:28104920|PMID:28126493|PMID:28271814|PMID:28373026|PMID:28440875|PMID:28492532|PMID:28747912|PMID:29724903|PMID:29882021|PMID:30578959|PMID:31106410|PMID:31256854|PMID:31309983|PMID:32088370|PMID:33417088|PMID:33715335|PMID:34051752|PMID:34387894|PMID:34529785|PMID:34893945|PMID:38730328|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:5603	T-cell acute lymphoblastic leukemia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: T-cell acute lymphoblastic leukemia	PMID:25741868|PMID:29724903|PMID:30802360|PMID:34469508
12149578	GATA2	GATA binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149578	GATA2	GATA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23502222|PMID:23560626|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24728327|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:27069254|PMID:27276561|PMID:28104920|PMID:28202063|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30802360|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31911633|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37586297|PMID:37837580|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23502222|PMID:23560626|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:27069254|PMID:27276561|PMID:28104920|PMID:28202063|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30802360|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31911633|PMID:32208489|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37586297|PMID:37837580|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892162|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23502222|PMID:23560626|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26580448|PMID:26660446|PMID:26702063|PMID:27069254|PMID:27276561|PMID:28104920|PMID:28202063|PMID:28492532|PMID:28518168|PMID:28654364|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30190467|PMID:30578959|PMID:30802360|PMID:31106410|PMID:31256854|PMID:31309983|PMID:31911633|PMID:32461654|PMID:32555368|PMID:32960960|PMID:33417088|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:35980532|PMID:37216690|PMID:37586297|PMID:37837580|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:6364	migraine		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine with or without aura, susceptibility to, 1	PMID:21670465|PMID:24077845|PMID:25326637|PMID:25741868|PMID:26702063|PMID:28492532|PMID:32088370
12149578	GATA2	GATA binding protein 2	gene	DOID:7166	thyroiditis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:25741868|PMID:28492532
12149578	GATA2	GATA binding protein 2	gene	DOID:848	arthritis		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
12149578	GATA2	GATA binding protein 2	gene	DOID:865	vasculitis		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12149578	GATA2	GATA binding protein 2	gene	DOID:8692	myeloid leukemia	disease_progression	ISO	RGD:734291	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L359V	PMID:19304323|REF_RGD_ID:11049517
12149578	GATA2	GATA binding protein 2	gene	DOID:9000351	Diarrhea 9		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868|PMID:28492532
12149578	GATA2	GATA binding protein 2	gene	DOID:9002514	Neointima		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12149578	GATA2	GATA binding protein 2	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
12149578	GATA2	GATA binding protein 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:734291	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868|PMID:28492532
12149578	GATA2	GATA binding protein 2	gene	DOID:9003814	Neurologic Manifestations		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurologic symptoms	PMID:23502222|PMID:24077845|PMID:24266605|PMID:25239263|PMID:25359990|PMID:25741868|PMID:25879889|PMID:26702063|PMID:26812071|PMID:27418648|PMID:28492532|PMID:28602958|PMID:29146883|PMID:29724903|PMID:30232126|PMID:30538114|PMID:30578959|PMID:32135276
12149578	GATA2	GATA binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:21892158|PMID:24345756|PMID:25741868
12149578	GATA2	GATA binding protein 2	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12149578	GATA2	GATA binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12149578	GATA2	GATA binding protein 2	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:2664	D	RGD:9068941	20200609	RGD		associated with Pneumocystis Infections	PMID:16774119|REF_RGD_ID:9587813
12149578	GATA2	GATA binding protein 2	gene	DOID:9006709	Primary Graft Dysfunction		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28569748
12149578	GATA2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:21670465|PMID:22533337|PMID:24754962|PMID:25741868|PMID:26445707|PMID:28492532|PMID:28873162|PMID:29365323|PMID:29797310|PMID:33715335
12149578	GATA2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21670465|PMID:21892162|PMID:22533337|PMID:22649106|PMID:22814295|PMID:24754962|PMID:25241285|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26445707|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28654364|PMID:28873162|PMID:29365323|PMID:29797310|PMID:31911633|PMID:32555368|PMID:33715335|PMID:34619682
12149578	GATA2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:21670465|PMID:21892162|PMID:22533337|PMID:22649106|PMID:22814295|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26445707|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28654364|PMID:28873162|PMID:29365323|PMID:29797310|PMID:31911633|PMID:32555368|PMID:32960960|PMID:33715335|PMID:34619682
12149578	GATA2	GATA binding protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:21892162|PMID:22649106|PMID:22814295|PMID:25241285|PMID:25359990|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26660446|PMID:27069254|PMID:27276561|PMID:28492532|PMID:28518168|PMID:28654364|PMID:30190467|PMID:31911633|PMID:32461654|PMID:32960960|PMID:34619682
12149578	GATA2	GATA binding protein 2	gene	DOID:9008217	Hemorrhage		ISO	RGD:69110	D	RGD:9068941	20200609	RGD			PMID:22996665|REF_RGD_ID:11049511
12149578	GATA2	GATA binding protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:734291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20707411
12149578	GATA2	GATA binding protein 2	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:734291	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Emberger syndrome | ClinVar Annotator: match by term: LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA | ClinVar Annotator: match by term: Lymphedema, primary, with myelodysplasia	PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22430350|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23502222|PMID:23560626|PMID:24077845|PMID:24227816|PMID:24345756|PMID:25241285|PMID:25326637|PMID:25359990|PMID:25624456|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:27416790|PMID:27894982|PMID:28104920|PMID:28492532|PMID:28654364|PMID:28747912|PMID:29724903|PMID:29882021|PMID:30190467|PMID:30578959|PMID:31106410|PMID:31256854|PMID:31309983|PMID:32088370|PMID:33417088|PMID:33560389|PMID:33684095|PMID:34051752|PMID:34529785|PMID:38730328|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia	susceptibility	ISO	RGD:734291	D	RGD:7240710	20260805	OMIM			
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:4508672|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:20040766|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21892158|PMID:21892162|PMID:22147895|PMID:22271902|PMID:22533337|PMID:23223431|PMID:23365458|PMID:23502222|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24266605|PMID:24345756|PMID:25239263|PMID:25359990|PMID:25676417|PMID:25741868|PMID:25879889|PMID:26264606|PMID:26492932|PMID:26702063|PMID:26748574|PMID:26812071|PMID:27266944|PMID:27288520|PMID:27418648|PMID:27577878|PMID:28104920|PMID:28440875|PMID:28492532|PMID:28747912|PMID:28947108|PMID:29146883|PMID:29365323|PMID:29588856|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30101490|PMID:30578959|PMID:30894283|PMID:31035956|PMID:31106410|PMID:31256854|PMID:31340620|PMID:31350183|PMID:31753093|PMID:32098966|PMID:32135276|PMID:33363905|PMID:33417088|PMID:33510405|PMID:34529785|PMID:34670919|PMID:35753512|PMID:4508672|PMID:8701948
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:16199547|PMID:17576681|PMID:20040766|PMID:20803646|PMID:21242295|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24728327|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30578959|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia, adult | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:16199547|PMID:17576681|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24754962|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:27069254|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30190467|PMID:30280306|PMID:30578959|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734291	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute Myeloid Leukemia | ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic | ClinVar Annotator: match by term: Leukemia, acute myeloid, susceptibility to	PMID:16199547|PMID:17576681|PMID:20040766|PMID:21670465|PMID:21765025|PMID:21810969|PMID:21816832|PMID:21892158|PMID:21892162|PMID:21956389|PMID:22147895|PMID:22533337|PMID:22649106|PMID:22814295|PMID:23223431|PMID:23365458|PMID:23443460|PMID:23502222|PMID:23563236|PMID:24033149|PMID:24077845|PMID:24227816|PMID:24345756|PMID:24359037|PMID:24754962|PMID:25239263|PMID:25241285|PMID:25359990|PMID:25676417|PMID:25741868|PMID:26022708|PMID:26124496|PMID:26214525|PMID:26264606|PMID:26492932|PMID:26660446|PMID:26702063|PMID:26710799|PMID:26748574|PMID:27069254|PMID:27266944|PMID:27276561|PMID:28066994|PMID:28104920|PMID:28202063|PMID:28234738|PMID:28440875|PMID:28492532|PMID:28518168|PMID:28642594|PMID:28654364|PMID:29146883|PMID:29146900|PMID:29178327|PMID:29189513|PMID:29279357|PMID:29365323|PMID:29680795|PMID:29724903|PMID:29882021|PMID:29906362|PMID:30030275|PMID:30101490|PMID:30190467|PMID:30280306|PMID:30578959|PMID:30894283|PMID:31106410|PMID:31203817|PMID:31245276|PMID:31256854|PMID:31309983|PMID:31340620|PMID:31753093|PMID:31785092|PMID:31911633|PMID:32054657|PMID:32088370|PMID:32098966|PMID:32461654|PMID:32488879|PMID:32555368|PMID:32682923|PMID:32865708|PMID:32888943|PMID:32960960|PMID:33363905|PMID:33417088|PMID:33510405|PMID:33560389|PMID:33759087|PMID:33957466|PMID:34051752|PMID:34387894|PMID:34469508|PMID:34529785|PMID:34619682|PMID:34670919|PMID:35753512|PMID:37216690|PMID:37837580|PMID:38730328|PMID:38993648|PMID:8701948|PMID:9536098
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia	disease_progression	ISO	RGD:734291	D	RGD:9068941	20200609	RGD			PMID:22786876|PMID:25241285|REF_RGD_ID:11049510|REF_RGD_ID:11049515
12149578	GATA2	GATA binding protein 2	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:734291	D	RGD:7240710	20260805	OMIM			
12149589	B3GNT6	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6	gene	DOID:9007491	Childhood Schizophrenia		ISO	RGD:1601928	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Childhood Onset Schizophrenia	PMID:26508570
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1603669	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:7240710	20180130	OMIM			
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21 | ClinVar Annotator: match by term: NECAP1-related disorder	PMID:17576681|PMID:24399846|PMID:25741868|PMID:28492532|PMID:30626896|PMID:9536098
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:1826	epilepsy		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:1909	melanoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:630	genetic disease		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1603669	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12149593	NECAP1	NECAP endocytosis associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603669	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:1909	melanoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:3275	thymoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1319981	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1319981	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12149605	EXTL1	exostosin like glycosyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319981	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:2394	ovarian cancer		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12149626	DFFA	DNA fragmentation factor subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149636	NUTM1	NUT midline carcinoma family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149636	NUTM1	NUT midline carcinoma family member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149636	NUTM1	NUT midline carcinoma family member 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149650	LRRC9	leucine rich repeat containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1603492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149699	TOR1A	torsin family 1 member A	gene	DOID:0050836	focal dystonia		ISO	RGD:1615931	D	RGD:9068941	20220825	MouseDO			
12149699	TOR1A	torsin family 1 member A	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12149699	TOR1A	torsin family 1 member A	gene	DOID:0060260	ptosis		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12149699	TOR1A	torsin family 1 member A	gene	DOID:0060730	torsion dystonia 1		ISO	RGD:1345813	D	RGD:7240710	20180130	OMIM			
12149699	TOR1A	torsin family 1 member A	gene	DOID:0060730	torsion dystonia 1		ISO	RGD:1345813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonia-1, torsion | ClinVar Annotator: match by term: TOR1A-related disorder	PMID:11523564|PMID:16537570|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19380705|PMID:23405979|PMID:23460578|PMID:24930953|PMID:25741868|PMID:28492532|PMID:31321303|PMID:31583275|PMID:32243914
12149699	TOR1A	torsin family 1 member A	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:1345813	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43	PMID:25741868|PMID:30244176|PMID:34008892
12149699	TOR1A	torsin family 1 member A	gene	DOID:0080981	arthrogryposis multiplex congenita-5		ISO	RGD:1345813	D	RGD:7240710	20200812	OMIM			
12149699	TOR1A	torsin family 1 member A	gene	DOID:0080981	arthrogryposis multiplex congenita-5		ISO	RGD:1345813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA 5 | ClinVar Annotator: match by term: Arthrogryposis multiplex congenita 5	PMID:16537570|PMID:17503336|PMID:18477710|PMID:18519876|PMID:19380705|PMID:23405979|PMID:23460578|PMID:24930953|PMID:25741868|PMID:28492532|PMID:28516161|PMID:29053766|PMID:30244176|PMID:31321303|PMID:31583275|PMID:32243914|PMID:32399599|PMID:34008892|PMID:36757831
12149699	TOR1A	torsin family 1 member A	gene	DOID:1059	intellectual disability		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532
12149699	TOR1A	torsin family 1 member A	gene	DOID:1115	sarcoma		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149699	TOR1A	torsin family 1 member A	gene	DOID:12215	oligohydramnios		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12149699	TOR1A	torsin family 1 member A	gene	DOID:543	dystonia		ISO	RGD:1345813	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonia | ClinVar Annotator: match by term: Dystonic disorder	PMID:16199547|PMID:16537570|PMID:17503336|PMID:17576681|PMID:18477710|PMID:18519876|PMID:19380705|PMID:23405979|PMID:23460578|PMID:24930953|PMID:25741868|PMID:27477622|PMID:28492532|PMID:30244176|PMID:31321303|PMID:31583275|PMID:32243914|PMID:32399599|PMID:34008892|PMID:36757831|PMID:9536098
12149699	TOR1A	torsin family 1 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149699	TOR1A	torsin family 1 member A	gene	DOID:630	genetic disease		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:6757831
12149699	TOR1A	torsin family 1 member A	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1345813	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12149699	TOR1A	torsin family 1 member A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12149699	TOR1A	torsin family 1 member A	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1345813	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:18827015
12149699	TOR1A	torsin family 1 member A	gene	DOID:9008057	Dystonia Musculorum Deformans		ISO	RGD:1345813	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torsion dystonia	PMID:19955557|PMID:25741868
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:0060565	Ritscher-Schinzel syndrome		ISO	RGD:1352329	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1352329	D	RGD:7240710	20180130	OMIM			
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:0060572	Ritscher-Schinzel syndrome 2		ISO	RGD:1352329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CCDC22-related condition | ClinVar Annotator: match by term: RITSCHER-SCHINZEL SYNDROME 2 | ClinVar Annotator: match by term: Ritscher-Schinzel syndrome 2 | ClinVar Annotator: match by term: Ritscher-schinzel syndrome 2	PMID:21826058|PMID:23563313|PMID:24916641|PMID:25644381|PMID:25741868|PMID:28492532|PMID:31971710|PMID:40448120
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:1059	intellectual disability		ISO	RGD:1352329	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:3070	high grade glioma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:4362	cervical cancer		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1352329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149708	CCDC22	coiled-coil domain containing 22	gene	DOID:9970	obesity		ISO	RGD:1352329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	
12149730	SDHAF3	succinate dehydrogenase complex assembly factor 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12149730	SDHAF3	succinate dehydrogenase complex assembly factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149745	LOC100686571	zinc finger protein 558	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149745	LOC100686571	zinc finger protein 558	gene	DOID:10534	stomach cancer		ISO	RGD:1348018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149745	LOC100686571	zinc finger protein 558	gene	DOID:3275	thymoma		ISO	RGD:1348018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12149745	LOC100686571	zinc finger protein 558	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149745	LOC100686571	zinc finger protein 558	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348018	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:1115	sarcoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:1909	melanoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3907	lung squamous cell carcinoma	disease_progression	ISO	RGD:1313400	D	RGD:9068941	20260326	RGD			PMID:41320721|REF_RGD_ID:640480045
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1313400	D	RGD:9068941	20260326	RGD			PMID:41320721|REF_RGD_ID:640480045
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1313400	D	RGD:9068941	20260326	RGD			PMID:41320721|REF_RGD_ID:640480045
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:6039	uveal melanoma		ISO	RGD:1313400	D	RGD:9068941	20260416	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:8923	skin melanoma		ISO	RGD:1313400	D	RGD:9068941	20241226	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1313400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9003566	Mesothelioma		ISO	RGD:1313400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149756	JMJD6	jumonji domain containing 6, arginine demethylase and lysine hydroxylase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1313400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30619488
12149772	MTMR3	myotubularin related protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:1324	lung cancer		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12149772	MTMR3	myotubularin related protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12149814	MIR543	microRNA mir-543	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:2313004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12149814	MIR543	microRNA mir-543	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:2313004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30710498
12149814	MIR543	microRNA mir-543	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:2313004	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:30710498
12149912	KICS2	KICSTOR subunit 2	gene	DOID:0061114	autosomal recessive intellectual developmental disorder 83		ISO	RGD:1603179	D	RGD:7240710	20250226	OMIM			
12149912	KICS2	KICSTOR subunit 2	gene	DOID:0061114	autosomal recessive intellectual developmental disorder 83		ISO	RGD:1603179	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 83	
12149912	KICS2	KICSTOR subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12149912	KICS2	KICSTOR subunit 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1603179	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12149912	KICS2	KICSTOR subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12149912	KICS2	KICSTOR subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149912	KICS2	KICSTOR subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149919	CFH	complement factor H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12149919	CFH	complement factor H	gene	DOID:0051061	stroke		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:21695352|REF_RGD_ID:5508764
12149919	CFH	complement factor H	gene	DOID:0060746	basal laminar drusen		ISO	RGD:1353869	D	RGD:7240710	20260520	OMIM			
12149919	CFH	complement factor H	gene	DOID:0060746	basal laminar drusen		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BASAL LAMINAR DRUSEN | ClinVar Annotator: match by term: Basal laminar drusen | ClinVar Annotator: match by term: DRUSEN, EARLY ADULT-ONSET, GROUPED	PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14583443|PMID:14978182|PMID:15761120|PMID:15816899|PMID:16199547|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16889549|PMID:17076561|PMID:18235085|PMID:18252232|PMID:19454698|PMID:19633317|PMID:19680263|PMID:20016463|PMID:20059470|PMID:20106822|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21620101|PMID:21717289|PMID:22019782|PMID:22223606|PMID:22403278|PMID:22410797|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24317637|PMID:24498017|PMID:24853860|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25341722|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25899302|PMID:26215151|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26764160|PMID:26826462|PMID:28011711|PMID:28492532|PMID:28596415|PMID:28821363|PMID:28858176|PMID:28859202|PMID:28941939|PMID:29046944|PMID:29148534|PMID:29218045|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30476936|PMID:30674459|PMID:30890598|PMID:30905644|PMID:31447099|PMID:31589614|PMID:31635417|PMID:34169201|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34748552|PMID:34912830|PMID:35368817|PMID:35372954|PMID:36053979|PMID:36246952|PMID:36445700|PMID:36626252|PMID:36845135|PMID:37369098|PMID:37744338
12149919	CFH	complement factor H	gene	DOID:0080162	lupus nephritis		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:22171659|REF_RGD_ID:5684551
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:7240710	20260520	OMIM			
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30560448|PMID:31447099|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24498017|PMID:24906858|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30295827|PMID:30560448|PMID:31447099|PMID:32185379|PMID:33519811|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24498017|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29218045|PMID:29500241|PMID:29686068|PMID:29888403|PMID:30295827|PMID:30560448|PMID:30674459|PMID:31447099|PMID:32185379|PMID:33369641|PMID:33519811|PMID:33873197|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24333077|PMID:24498017|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26283675|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29218045|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:31447099|PMID:32185379|PMID:33369641|PMID:33519811|PMID:33873197|PMID:34169201|PMID:34189567|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25006455|PMID:25037630|PMID:25188723|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26283675|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29218045|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:31447099|PMID:32185379|PMID:33519811|PMID:33873197|PMID:34169201|PMID:34189567|PMID:34508573|PMID:34912830|PMID:35925583|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Familial Atypical Hemolytic-Uremic Syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25188723|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26283675|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27064621|PMID:27572114|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29218045|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:31447099|PMID:32185379|PMID:33519811|PMID:33873197|PMID:34169201|PMID:34189567|PMID:34508573|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: CD46-related condition | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25188723|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26215151|PMID:26283675|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26826462|PMID:27064621|PMID:27572114|PMID:27718086|PMID:28011711|PMID:28492532|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:31447099|PMID:31575699|PMID:32185379|PMID:33369641|PMID:33519811|PMID:33873197|PMID:34169201|PMID:34189567|PMID:34508573|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24799305|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25188723|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25951460|PMID:26215151|PMID:26283675|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26826462|PMID:26915021|PMID:27064621|PMID:27572114|PMID:27718086|PMID:27939104|PMID:28011711|PMID:28176477|PMID:28492532|PMID:28596415|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:30930551|PMID:31447099|PMID:31575699|PMID:32185379|PMID:33048203|PMID:33369641|PMID:33519811|PMID:33873197|PMID:34169201|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34714369|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24799305|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25951460|PMID:26215151|PMID:26283675|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26613026|PMID:26691988|PMID:26826462|PMID:26915021|PMID:27064621|PMID:27572114|PMID:27718086|PMID:27939104|PMID:28011711|PMID:28176477|PMID:28492532|PMID:28596415|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:30930551|PMID:31447099|PMID:31575699|PMID:31589614|PMID:32185379|PMID:33048203|PMID:33519811|PMID:33873197|PMID:34169201|PMID:3418956|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34714369|PMID:34748552|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: THBD-related condition	PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16199547|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24799305|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25951460|PMID:26215151|PMID:26283675|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26613026|PMID:26691988|PMID:26826462|PMID:26915021|PMID:27064621|PMID:27572114|PMID:27718086|PMID:27939104|PMID:28011711|PMID:28176477|PMID:28492532|PMID:28596415|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29321782|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:30930551|PMID:31447099|PMID:31575699|PMID:31589614|PMID:32185379|PMID:33048203|PMID:33519811|PMID:33873197|PMID:34169201|PMID:3418956|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34714369|PMID:34748552|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10206995|PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16199547|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24799305|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25443527|PMID:25525159|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25951460|PMID:26215151|PMID:26283675|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26613026|PMID:26691988|PMID:26826462|PMID:26915021|PMID:27064621|PMID:27572114|PMID:27718086|PMID:27939104|PMID:28011711|PMID:28176477|PMID:28492532|PMID:28596415|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29321782|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:30930551|PMID:31447099|PMID:31575699|PMID:31589614|PMID:32185379|PMID:33048203|PMID:33519811|PMID:33873197|PMID:34169201|PMID:3418956|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34714369|PMID:34748552|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:37369098|PMID:37466676|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 2 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 3 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 4 | ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 6 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1	PMID:10206995|PMID:10577907|PMID:10762557|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15661753|PMID:15761120|PMID:15870199|PMID:16199547|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:17018561|PMID:17076561|PMID:17089378|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18235085|PMID:18252232|PMID:18252712|PMID:18268093|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:20301541|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22594991|PMID:22669321|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24333077|PMID:24498017|PMID:24799305|PMID:24847005|PMID:24906858|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25443527|PMID:25525159|PMID:25733390|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25951460|PMID:26215151|PMID:26283675|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26613026|PMID:26691988|PMID:26826462|PMID:26915021|PMID:27064621|PMID:27572114|PMID:27718086|PMID:27939104|PMID:28011711|PMID:28176477|PMID:28492532|PMID:28596415|PMID:28859202|PMID:28941939|PMID:29218045|PMID:29321782|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29686068|PMID:29888403|PMID:30046676|PMID:30295827|PMID:30560448|PMID:30674459|PMID:30930551|PMID:31447099|PMID:31575699|PMID:31589614|PMID:32185379|PMID:32424742|PMID:33048203|PMID:33519811|PMID:33873197|PMID:34169201|PMID:3418956|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34714369|PMID:34748552|PMID:34912830|PMID:35925583|PMID:35930268|PMID:36246952|PMID:36445700|PMID:37369098|PMID:37466676|PMID:646435|PMID:8072530|PMID:9536098|PMID:9551389|PMID:9811382|PMID:9848786
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10206995|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:12020532|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14564205|PMID:14583443|PMID:14978182|PMID:14986080|PMID:15140578|PMID:15163532|PMID:15661753|PMID:15685522|PMID:15816899|PMID:16189652|PMID:16199547|PMID:16281287|PMID:16299065|PMID:16338962|PMID:16470555|PMID:16528247|PMID:16601698|PMID:16621965|PMID:16889549|PMID:16893081|PMID:16968692|PMID:17076561|PMID:17089378|PMID:17229916|PMID:17295030|PMID:17576681|PMID:17599974|PMID:17947292|PMID:17973958|PMID:18215115|PMID:18235085|PMID:18252232|PMID:1826809|PMID:18268093|PMID:18371543|PMID:18421087|PMID:18423815|PMID:18482212|PMID:19179328|PMID:19351878|PMID:19454698|PMID:19568827|PMID:19633317|PMID:19680263|PMID:19856002|PMID:20016463|PMID:20059470|PMID:20090363|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20304497|PMID:20305136|PMID:20513133|PMID:20526633|PMID:20703214|PMID:20734203|PMID:20877372|PMID:21188423|PMID:21317894|PMID:21322001|PMID:21396679|PMID:21415311|PMID:21620101|PMID:21717289|PMID:21868097|PMID:21881555|PMID:21906045|PMID:22019782|PMID:22170528|PMID:22223606|PMID:22223611|PMID:22388616|PMID:22403278|PMID:22410797|PMID:22420623|PMID:22456601|PMID:22622361|PMID:22834933|PMID:22956028|PMID:23027168|PMID:23235567|PMID:23251215|PMID:23307876|PMID:23314101|PMID:23356914|PMID:23431077|PMID:23461281|PMID:23475501|PMID:23685748|PMID:23689905|PMID:23787556|PMID:23847193|PMID:23852337|PMID:23870792|PMID:23958887|PMID:23982707|PMID:24029428|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24088957|PMID:24161037|PMID:24218264|PMID:24317637|PMID:24344133|PMID:24419569|PMID:24498017|PMID:24558625|PMID:24671321|PMID:24799305|PMID:24853860|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25341722|PMID:25443527|PMID:25496981|PMID:25593925|PMID:25616634|PMID:25659429|PMID:25741868|PMID:25752761|PMID:25814826|PMID:25862562|PMID:25880396|PMID:25899302|PMID:25925370|PMID:25951460|PMID:26011580|PMID:26019860|PMID:26069742|PMID:26069744|PMID:26111482|PMID:26215151|PMID:26283675|PMID:26376595|PMID:26376859|PMID:26459349|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26724167|PMID:26728463|PMID:26764160|PMID:26826462|PMID:26880823|PMID:26915021|PMID:27006390|PMID:27064621|PMID:27268256|PMID:27490940|PMID:27587606|PMID:27784126|PMID:27799617|PMID:27905547|PMID:28011711|PMID:28056875|PMID:28176471|PMID:28176477|PMID:28187980|PMID:28461395|PMID:28492532|PMID:28596415|PMID:28637873|PMID:28744369|PMID:28798244|PMID:28821363|PMID:28844315|PMID:28858176|PMID:28859202|PMID:28911789|PMID:28939980|PMID:28941939|PMID:29046944|PMID:29136640|PMID:29148534|PMID:29215813|PMID:29218045|PMID:29282226|PMID:29296765|PMID:29321782|PMID:29327071|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29686068|PMID:29854987|PMID:29858281|PMID:29888403|PMID:29959568|PMID:30046676|PMID:30077216|PMID:30110670|PMID:30238151|PMID:30286829|PMID:30377230|PMID:30476936|PMID:30595568|PMID:30619356|PMID:30659006|PMID:30674459|PMID:30890598|PMID:30916388|PMID:30930551|PMID:30982675|PMID:31014550|PMID:31031394|PMID:31118930|PMID:31156713|PMID:31312772|PMID:31328266|PMID:31440263|PMID:31447099|PMID:31575699|PMID:31589614|PMID:31635417|PMID:31705748|PMID:31791575|PMID:31820418|PMID:31865800|PMID:31945341|PMID:32342491|PMID:32424742|PMID:32543063|PMID:32734241|PMID:32793201|PMID:32954088|PMID:33048203|PMID:33213850|PMID:33270832|PMID:33384694|PMID:33387344|PMID:33609329|PMID:33784485|PMID:33841858|PMID:33873197|PMID:33912760|PMID:33956337|PMID:33988670|PMID:34169201|PMID:34189567|PMID:34258481|PMID:34260947|PMID:34482396|PMID:34508573|PMID:34748552|PMID:34852172|PMID:34912830|PMID:35372954|PMID:35385571|PMID:35619721|PMID:35769858|PMID:35925583|PMID:36246952|PMID:36275662|PMID:36347020|PMID:36421183|PMID:36445700|PMID:36626252|PMID:36680323|PMID:36845135|PMID:36846022|PMID:36938079|PMID:37103770|PMID:37367079|PMID:37369098|PMID:37466676|PMID:37744338|PMID:38041748|PMID:38317858|PMID:38344720|PMID:38961591|PMID:39422762
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:8072530|PMID:9312129|PMID:9536098|PMID:9551389
12149919	CFH	complement factor H	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AHUS, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome | ClinVar Annotator: match by term: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Hemolytic uremic syndrome, atypical, susceptibility to, 1 | ClinVar Annotator: match by term: atypical hemolytic-uremic syndrome	PMID:10206995|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12020532|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14564205|PMID:14583443|PMID:14978182|PMID:14986080|PMID:15140578|PMID:15163532|PMID:15661753|PMID:15685522|PMID:15761120|PMID:15816899|PMID:16189652|PMID:16199547|PMID:16281287|PMID:16338962|PMID:16470555|PMID:16528247|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16889549|PMID:16893081|PMID:16968692|PMID:17076561|PMID:17089378|PMID:17229916|PMID:17295030|PMID:17576681|PMID:17599974|PMID:17973958|PMID:18070148|PMID:18215115|PMID:18235085|PMID:18252232|PMID:1826809|PMID:18268093|PMID:18371543|PMID:18421087|PMID:18423815|PMID:18482212|PMID:19179328|PMID:19351878|PMID:19454698|PMID:19568827|PMID:19633317|PMID:19680263|PMID:19856002|PMID:20016463|PMID:20059470|PMID:20090363|PMID:20106822|PMID:20203157|PMID:20301541|PMID:20304497|PMID:20305136|PMID:20513133|PMID:20526633|PMID:20703214|PMID:20734203|PMID:20865645|PMID:20877372|PMID:21188423|PMID:21317894|PMID:21322001|PMID:21396679|PMID:21415311|PMID:21620101|PMID:21717289|PMID:21868097|PMID:21906045|PMID:22019782|PMID:22170528|PMID:22223606|PMID:22223611|PMID:22403278|PMID:22410797|PMID:22420623|PMID:22456601|PMID:22622361|PMID:22956028|PMID:23027168|PMID:23235567|PMID:23251215|PMID:23307876|PMID:23314101|PMID:23356914|PMID:23431077|PMID:23461281|PMID:23685748|PMID:23787556|PMID:23847193|PMID:23852337|PMID:23870792|PMID:23958887|PMID:24029428|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24088957|PMID:24161037|PMID:24218264|PMID:24317637|PMID:24344133|PMID:24419569|PMID:24498017|PMID:24558625|PMID:24671321|PMID:24799305|PMID:24853860|PMID:24933457|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25341722|PMID:25443527|PMID:25496981|PMID:25593925|PMID:25616634|PMID:25659429|PMID:25741868|PMID:25752761|PMID:25814826|PMID:25862562|PMID:25880396|PMID:25899302|PMID:25925370|PMID:25951460|PMID:26019860|PMID:26069742|PMID:26069744|PMID:26111482|PMID:26215151|PMID:26283675|PMID:26376859|PMID:26459349|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26724167|PMID:26728463|PMID:26764160|PMID:26826462|PMID:26880823|PMID:26915021|PMID:27006390|PMID:27064621|PMID:27268256|PMID:27587606|PMID:27784126|PMID:27799617|PMID:27905547|PMID:28011711|PMID:28056875|PMID:28176471|PMID:28176477|PMID:28187980|PMID:28461395|PMID:28492532|PMID:28596415|PMID:28637873|PMID:28744369|PMID:28798244|PMID:28821363|PMID:28844315|PMID:28858176|PMID:28859202|PMID:28911789|PMID:28939980|PMID:28941939|PMID:29046944|PMID:29136640|PMID:29148534|PMID:29215813|PMID:29218045|PMID:29282226|PMID:29296765|PMID:29321782|PMID:29327071|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29563339|PMID:29686068|PMID:29858281|PMID:29888403|PMID:30046676|PMID:30077216|PMID:30110670|PMID:30286829|PMID:30377230|PMID:30476936|PMID:30595568|PMID:30619356|PMID:30659006|PMID:30674459|PMID:30890598|PMID:30916388|PMID:30930551|PMID:30982675|PMID:31014550|PMID:31118930|PMID:31156713|PMID:31328266|PMID:31440263|PMID:31447099|PMID:31575699|PMID:31589614|PMID:31635417|PMID:31705748|PMID:31730685|PMID:31791575|PMID:31865800|PMID:32342491|PMID:32424742|PMID:32543063|PMID:32734241|PMID:32793201|PMID:32954088|PMID:33048203|PMID:33213850|PMID:33270832|PMID:33384694|PMID:33387344|PMID:33609329|PMID:33784485|PMID:33841858|PMID:33873197|PMID:33912760|PMID:33956337|PMID:33988670|PMID:34169201|PMID:34189567|PMID:34258481|PMID:34260947|PMID:34482396|PMID:34508573|PMID:34748552|PMID:34852172|PMID:34912830|PMID:35372954|PMID:35385571|PMID:35619721|PMID:35769858|PMID:35925583|PMID:36246952|PMID:36275662|PMID:36347020|PMID:36421183|PMID:36445700|PMID:36626252|PMID:36680323|PMID:36845135|PMID:36846022|PMID:36938079|PMID:37103770|PMID:37367079|PMID:37369098|PMID:37466676|PMID:37744338|PMID:38041748|PMID:38317858|PMID:38961591|PMID:39422762|PMID:9536098|PMID:9551389
12149919	CFH	complement factor H	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1353869	D	RGD:9068941	20200813	RGD		DNA:SNP: :	PMID:32747830|REF_RGD_ID:38500238
12149919	CFH	complement factor H	gene	DOID:0110017	age related macular degeneration 4		ISO	RGD:1353869	D	RGD:7240710	20260520	OMIM			
12149919	CFH	complement factor H	gene	DOID:0110017	age related macular degeneration 4		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 4	PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:12960213|PMID:14583443|PMID:14978182|PMID:15163532|PMID:15754282|PMID:15761120|PMID:15816899|PMID:16199547|PMID:16338962|PMID:16470555|PMID:16601698|PMID:16619239|PMID:16621965|PMID:16889549|PMID:17076561|PMID:17089378|PMID:17591618|PMID:18235085|PMID:18252232|PMID:18336910|PMID:18421087|PMID:18782275|PMID:19273554|PMID:19297022|PMID:19351878|PMID:19454698|PMID:19633317|PMID:19680263|PMID:19961953|PMID:20016463|PMID:20059470|PMID:20106822|PMID:2020315|PMID:20203157|PMID:20301541|PMID:20378178|PMID:20513133|PMID:21188423|PMID:21215749|PMID:21270465|PMID:21285368|PMID:21317894|PMID:21415311|PMID:21531728|PMID:21620101|PMID:21683447|PMID:21717289|PMID:21906045|PMID:21936007|PMID:22019782|PMID:22170528|PMID:22223606|PMID:22277662|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22491393|PMID:22542290|PMID:22669321|PMID:22673887|PMID:22904312|PMID:23133374|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23487775|PMID:23637600|PMID:23685748|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24161037|PMID:24317637|PMID:24344133|PMID:24498017|PMID:24722444|PMID:24853860|PMID:24970127|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25330773|PMID:25341722|PMID:25474345|PMID:25616634|PMID:25659429|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25899302|PMID:260501415|PMID:26111482|PMID:26215151|PMID:26268811|PMID:26283675|PMID:26376859|PMID:26399238|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26703217|PMID:26728463|PMID:26764160|PMID:26826462|PMID:26836579|PMID:27006390|PMID:27160908|PMID:27572114|PMID:27799617|PMID:27905547|PMID:27939104|PMID:28011711|PMID:28295239|PMID:28339660|PMID:28492532|PMID:28593446|PMID:28596415|PMID:28637589|PMID:28821363|PMID:28858176|PMID:28859202|PMID:28941939|PMID:29046944|PMID:29148534|PMID:29218045|PMID:29301530|PMID:29327071|PMID:29410599|PMID:29500241|PMID:29511899|PMID:29566171|PMID:29567368|PMID:29686068|PMID:29745120|PMID:29888403|PMID:30077216|PMID:30476936|PMID:30510105|PMID:30674459|PMID:30890598|PMID:30905644|PMID:30929851|PMID:30982675|PMID:31014550|PMID:31064333|PMID:31328266|PMID:31447099|PMID:31589614|PMID:31635417|PMID:32246154|PMID:32476814|PMID:32793201|PMID:33270832|PMID:33519811|PMID:34169201|PMID:34189567|PMID:34211499|PMID:34260947|PMID:34508573|PMID:34631043|PMID:34647987|PMID:34748552|PMID:34912830|PMID:34945728|PMID:35260635|PMID:35372954|PMID:35619721|PMID:35836191|PMID:35925583|PMID:36036675|PMID:36211394|PMID:36246952|PMID:36445700|PMID:36591303|PMID:36626252|PMID:36643920|PMID:36845135|PMID:37156755|PMID:37369098|PMID:37615951|PMID:37744338|PMID:38041748|PMID:38320731|PMID:38344720|PMID:38683564|PMID:38765559|PMID:9312129
12149919	CFH	complement factor H	gene	DOID:10534	stomach cancer		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12149919	CFH	complement factor H	gene	DOID:10534	stomach cancer		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149919	CFH	complement factor H	gene	DOID:10976	membranous glomerulonephritis		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:glomerulus	PMID:12911541|REF_RGD_ID:1599888
12149919	CFH	complement factor H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:33784485
12149919	CFH	complement factor H	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.Y402H(human)	PMID:23497844|REF_RGD_ID:7365014
12149919	CFH	complement factor H	gene	DOID:12030	panuveitis	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.Y402H(human)	PMID:23497844|REF_RGD_ID:7365014
12149919	CFH	complement factor H	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemolytic-uremic syndrome	PMID:30595568
12149919	CFH	complement factor H	gene	DOID:12574	posterior uveitis	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.Y402H(human)	PMID:23497844|REF_RGD_ID:7365014
12149919	CFH	complement factor H	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;DNA:SNP:  :rs1410996(human)	PMID:23296223|REF_RGD_ID:7365023
12149919	CFH	complement factor H	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1353869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:16299065|PMID:17089378|PMID:17947292|PMID:23314101|PMID:23689905|PMID:23982707|PMID:25741868|PMID:26011580|PMID:27268256|PMID:27490940|PMID:27799617|PMID:28492532|PMID:29959568|PMID:30238151|PMID:31312772|PMID:31820418|PMID:32808006|PMID:34189567|PMID:35925583|PMID:8072530
12149919	CFH	complement factor H	gene	DOID:1324	lung cancer		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12149919	CFH	complement factor H	gene	DOID:13603	obstructive jaundice		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:20132852|REF_RGD_ID:7364952
12149919	CFH	complement factor H	gene	DOID:1407	anterior uveitis		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP, haplotype: :rs800292 (human)	PMID:22714898|REF_RGD_ID:7411695
12149919	CFH	complement factor H	gene	DOID:1686	glaucoma		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:20484586|REF_RGD_ID:7364950
12149919	CFH	complement factor H	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:23938460|REF_RGD_ID:8662319
12149919	CFH	complement factor H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12149919	CFH	complement factor H	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:21618592|REF_RGD_ID:5684555
12149919	CFH	complement factor H	gene	DOID:2527	nephrosis		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney:	PMID:22815489|REF_RGD_ID:7364901
12149919	CFH	complement factor H	gene	DOID:2569	retinal drusen		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:mutations:multiple:	PMID:22491393|REF_RGD_ID:7365010
12149919	CFH	complement factor H	gene	DOID:2569	retinal drusen	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNPs: :p.Y402H, rs1410996(human)	PMID:18936151|REF_RGD_ID:7365005
12149919	CFH	complement factor H	gene	DOID:2920	membranoproliferative glomerulonephritis		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Membranoproliferative glomerulonephritis with complement factor h deficiency	PMID:17018561|PMID:18421087|PMID:19190809|PMID:19297022|PMID:21868097|PMID:22389686|PMID:22609532|PMID:23852337|PMID:24482089|PMID:25188723|PMID:25443527|PMID:25741868|PMID:26496393|PMID:26501415|PMID:27905547|PMID:28492532|PMID:29686068|PMID:29888403|PMID:30476936|PMID:30890598|PMID:33226606|PMID:34189567|PMID:34508573|PMID:36246952|PMID:36445700|PMID:37466676|PMID:37615951
12149919	CFH	complement factor H	gene	DOID:2921	glomerulonephritis		ISO	RGD:733427	D	RGD:9068941	20200609	RGD			PMID:17344423|REF_RGD_ID:7365002
12149919	CFH	complement factor H	gene	DOID:3454	brain infarction	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:21695352|REF_RGD_ID:5508764
12149919	CFH	complement factor H	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12149919	CFH	complement factor H	gene	DOID:4362	cervical cancer		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration		ISO	RGD:1353869	D	RGD:9068941	20260604	CTD		CTD Direct Evidence: marker/mechanism	PMID:16518403|PMID:16754848|PMID:17554167|PMID:21909106|PMID:22019782|PMID:26691988
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration		ISO	RGD:1353869	D	RGD:9068941	20260604	RGD			PMID:22019782|REF_RGD_ID:5684552
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration		ISO	RGD:1353869	D	RGD:9068941	20260604	RGD		DNA:SNP: :rs800292(human)	PMID:21909106|REF_RGD_ID:7365033
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration		ISO	RGD:1353869	D	RGD:9068941	20260604	RGD		DNA:SNPs,Haplotype::	PMID:17517971|REF_RGD_ID:7364995
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration	disease_progression	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.Y402H(human)	PMID:17456821|REF_RGD_ID:7364999
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1061170 (Y402H)(human)	PMID:16710702|REF_RGD_ID:7365035
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1061170(human)	PMID:23362846|REF_RGD_ID:7365022
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1410996(human)	PMID:23534868|REF_RGD_ID:7365021
12149919	CFH	complement factor H	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.Y402H(human)	PMID:16379025|PMID:16877387|REF_RGD_ID:7365034|REF_RGD_ID:7365036
12149919	CFH	complement factor H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12149919	CFH	complement factor H	gene	DOID:5041	esophageal cancer		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149919	CFH	complement factor H	gene	DOID:5327	retinal detachment	no_association	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Y402H (rs1061170)	PMID:18515590|REF_RGD_ID:7411726
12149919	CFH	complement factor H	gene	DOID:5327	retinal detachment	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292)	PMID:18515590|REF_RGD_ID:7411726
12149919	CFH	complement factor H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12149919	CFH	complement factor H	gene	DOID:557	kidney disease		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:11158219|PMID:11170895|PMID:11851332|PMID:12424708|PMID:12697737|PMID:15816899|PMID:16338962|PMID:16601698|PMID:18235085|PMID:19454698|PMID:19633317|PMID:19680263|PMID:20016463|PMID:20059470|PMID:20106822|PMID:20513133|PMID:21317894|PMID:22019782|PMID:22410797|PMID:23431077|PMID:23685748|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24498017|PMID:25037630|PMID:25087612|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26215151|PMID:26376859|PMID:26501415|PMID:26691988|PMID:26826462|PMID:28011711|PMID:28821363|PMID:28859202|PMID:29046944|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30674459|PMID:30890598|PMID:31447099|PMID:31589614|PMID:31635417|PMID:34169201|PMID:34189567|PMID:34508573|PMID:34748552|PMID:35372954|PMID:36845135
12149919	CFH	complement factor H	gene	DOID:576	proteinuria		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney:	PMID:22815489|REF_RGD_ID:7364901
12149919	CFH	complement factor H	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1353869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14978182
12149919	CFH	complement factor H	gene	DOID:630	genetic disease		ISO	RGD:1353869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12149919	CFH	complement factor H	gene	DOID:670	amphetamine abuse		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22871478|REF_RGD_ID:7364944
12149919	CFH	complement factor H	gene	DOID:670	amphetamine abuse		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, hippocampus:	PMID:22871478|REF_RGD_ID:7364944
12149919	CFH	complement factor H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12149919	CFH	complement factor H	gene	DOID:8466	retinal degeneration		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:21467172|REF_RGD_ID:7364947
12149919	CFH	complement factor H	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11158219|PMID:11170895|PMID:11851332|PMID:12424708|PMID:12697737|PMID:15816899|PMID:16338962|PMID:16601698|PMID:16968692|PMID:18235085|PMID:19454698|PMID:19633317|PMID:19680263|PMID:20016463|PMID:20059470|PMID:20106822|PMID:20513133|PMID:21317894|PMID:22019782|PMID:22410797|PMID:23431077|PMID:23685748|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24498017|PMID:25037630|PMID:25087612|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26215151|PMID:26376859|PMID:26501415|PMID:26613026|PMID:26691988|PMID:26826462|PMID:28011711|PMID:28492532|PMID:28821363|PMID:28859202|PMID:29046944|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30674459|PMID:30890598|PMID:31447099|PMID:31589614|PMID:31635417|PMID:32246154|PMID:32543063|PMID:34169201|PMID:3418956|PMID:34189567|PMID:34508573|PMID:34748552|PMID:35372954|PMID:36445700|PMID:36845135
12149919	CFH	complement factor H	gene	DOID:8893	psoriasis	severity	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:2973157|REF_RGD_ID:8662318
12149919	CFH	complement factor H	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1;DNA:SNP:  :rs1410996(human)	PMID:23296223|REF_RGD_ID:7365023
12149919	CFH	complement factor H	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; DNA:SNP: :rs800292(human)	PMID:23864767|REF_RGD_ID:7365019
12149919	CFH	complement factor H	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:20351616|REF_RGD_ID:5684556
12149919	CFH	complement factor H	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:1353869	D	RGD:9068941	20260709	RGD		associated with Kidney Failure, Chronic;DNA:missense mutations:exon:p.N516K (c.1548T>A), p.Q950H (c.2850G>T), p.K1186H (c.3557A>C) (human)	PMID:18557729|REF_RGD_ID:11041165
12149919	CFH	complement factor H	gene	DOID:9000989	Pneumococcal Infections		ISO	RGD:733427	D	RGD:9068941	20210319	RGD			PMID:26802141|REF_RGD_ID:108019050
12149919	CFH	complement factor H	gene	DOID:9000989	Pneumococcal Infections	exacerbates	ISO	RGD:1353869	D	RGD:9068941	20210319	RGD			PMID:26802141|REF_RGD_ID:108019050
12149919	CFH	complement factor H	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:p.Y402H,I62V(human)	PMID:22536038|REF_RGD_ID:7365031
12149919	CFH	complement factor H	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with myopia;DNA:SNP: :rs1061170(human)	PMID:22678500|REF_RGD_ID:7365030
12149919	CFH	complement factor H	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:23258212|REF_RGD_ID:7364943
12149919	CFH	complement factor H	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:620428	D	RGD:9068941	20200609	RGD			PMID:15973109|REF_RGD_ID:7364990
12149919	CFH	complement factor H	gene	DOID:9001708	Hemorrhagic Shock	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:18403050|PMID:18496585|REF_RGD_ID:11041173|REF_RGD_ID:7364987
12149919	CFH	complement factor H	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver,plasma:	PMID:19212187|REF_RGD_ID:7364958
12149919	CFH	complement factor H	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:19212187|REF_RGD_ID:7364958
12149919	CFH	complement factor H	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:733427	D	RGD:9068941	20200609	RGD			PMID:19828624|REF_RGD_ID:5684557
12149919	CFH	complement factor H	gene	DOID:9002676	Cerebral Hemorrhage	severity	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:21871809|REF_RGD_ID:5684553
12149919	CFH	complement factor H	gene	DOID:9003092	Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNPs,Haplotype::	PMID:17517971|REF_RGD_ID:7364995
12149919	CFH	complement factor H	gene	DOID:9003092	Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency		ISO	RGD:733427	D	RGD:9068941	20200609	RGD			PMID:17517971|REF_RGD_ID:7364995
12149919	CFH	complement factor H	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:17263982|REF_RGD_ID:7364988
12149919	CFH	complement factor H	gene	DOID:9004484	Sepsis		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:	PMID:20132852|REF_RGD_ID:7364952
12149919	CFH	complement factor H	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:19009024|REF_RGD_ID:7364986
12149919	CFH	complement factor H	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with Jaundice,Obstructive;	PMID:20132852|REF_RGD_ID:7364952
12149919	CFH	complement factor H	gene	DOID:9004663	Intestinal Ischemia		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:17263982|REF_RGD_ID:7364988
12149919	CFH	complement factor H	gene	DOID:9005036	Bacteremia		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		associated with Meningococcal Infections;	PMID:22104107|REF_RGD_ID:7364945
12149919	CFH	complement factor H	gene	DOID:9005377	Complement Factor H Deficiency		ISO	RGD:1353869	D	RGD:7240710	20260520	OMIM			
12149919	CFH	complement factor H	gene	DOID:9005377	Complement Factor H Deficiency		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CFH DEFICIENCY | ClinVar Annotator: match by term: COMPLEMENT FACTOR H DEFICIENCY | ClinVar Annotator: match by term: Factor H deficiency	PMID:10206995|PMID:10803850|PMID:11158219|PMID:11170895|PMID:11170896|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:14583443|PMID:14978182|PMID:15761120|PMID:15816899|PMID:16026839|PMID:16199547|PMID:16281287|PMID:16338962|PMID:16470555|PMID:16499568|PMID:16601698|PMID:16612335|PMID:16619239|PMID:16621965|PMID:16889549|PMID:16893081|PMID:17076561|PMID:17089378|PMID:18235085|PMID:18252232|PMID:19190809|PMID:19297022|PMID:19351878|PMID:19454698|PMID:19633317|PMID:19680263|PMID:20016463|PMID:20059470|PMID:20090363|PMID:20106822|PMID:20301541|PMID:20513133|PMID:21188423|PMID:21270828|PMID:21317894|PMID:21396679|PMID:21415311|PMID:21620101|PMID:21717289|PMID:22019782|PMID:22223606|PMID:22403278|PMID:22410797|PMID:22456601|PMID:22669321|PMID:22904312|PMID:23235567|PMID:23307876|PMID:23431077|PMID:23685748|PMID:23852337|PMID:23870792|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24317637|PMID:24498017|PMID:24799305|PMID:24853860|PMID:25037630|PMID:25087612|PMID:25188723|PMID:25341722|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25899302|PMID:26215151|PMID:26289290|PMID:26376859|PMID:26501415|PMID:26691988|PMID:26728463|PMID:26764160|PMID:26826462|PMID:27006390|PMID:27918759|PMID:27939104|PMID:27959629|PMID:28011711|PMID:28492532|PMID:28509298|PMID:28596415|PMID:28821363|PMID:28858176|PMID:28859202|PMID:28941939|PMID:29046944|PMID:29148534|PMID:29218045|PMID:29327071|PMID:29410599|PMID:29500241|PMID:29686068|PMID:29888403|PMID:30476936|PMID:30674459|PMID:30890598|PMID:30905644|PMID:30930551|PMID:31014550|PMID:31447099|PMID:31589614|PMID:31635417|PMID:32793201|PMID:33387344|PMID:34169201|PMID:34189567|PMID:34211499|PMID:34260947|PMID:34508573|PMID:34539730|PMID:34748552|PMID:34912830|PMID:35372954|PMID:36246952|PMID:36445700|PMID:36626252|PMID:36845135|PMID:37615951|PMID:38041748|PMID:9312129
12149919	CFH	complement factor H	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:620428	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:20538296|REF_RGD_ID:7364948
12149919	CFH	complement factor H	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:20538296|REF_RGD_ID:7364948
12149919	CFH	complement factor H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149919	CFH	complement factor H	gene	DOID:9007189	Multifocal Choroiditis		ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNPs, missense mutation:introns, cds:multiple	PMID:19001225|REF_RGD_ID:7411728
12149919	CFH	complement factor H	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12149919	CFH	complement factor H	gene	DOID:9008366	Meningococcal Infections		ISO	RGD:1353869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20694013
12149919	CFH	complement factor H	gene	DOID:9008366	Meningococcal Infections	exacerbates	ISO	RGD:1353869	D	RGD:9068941	20210319	RGD			PMID:19047406|REF_RGD_ID:108019051
12149919	CFH	complement factor H	gene	DOID:9008366	Meningococcal Infections	treatment	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:25143339|REF_RGD_ID:11041174
12149919	CFH	complement factor H	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	no_association	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.Y402H (rs1061170) (human)	PMID:18515590|REF_RGD_ID:7411726
12149919	CFH	complement factor H	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD		DNA:SNP, missense mutation:promoter, cds:g.-257C>T, p.I62V (rs3753394, rs800292) (human)	PMID:18515590|REF_RGD_ID:7411726
12149919	CFH	complement factor H	gene	DOID:9008867	C3 Glomerulopathy 3		ISO	RGD:1353869	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: C3 GLOMERULOPATHY 3 | ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	PMID:11158219|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15870199|PMID:16299065|PMID:16338962|PMID:16601698|PMID:16619239|PMID:17018561|PMID:17576681|PMID:17599974|PMID:17947292|PMID:18235085|PMID:18252712|PMID:18557729|PMID:19190809|PMID:19259132|PMID:19297022|PMID:19454698|PMID:19633317|PMID:20016463|PMID:20059470|PMID:20203157|PMID:21317894|PMID:21415311|PMID:21909106|PMID:22019782|PMID:22171659|PMID:22223606|PMID:22389686|PMID:22403278|PMID:22410797|PMID:22456601|PMID:23431077|PMID:23852337|PMID:24036949|PMID:24036952|PMID:24498017|PMID:25037630|PMID:25741868|PMID:25814826|PMID:25880396|PMID:26501415|PMID:26559391|PMID:26826462|PMID:27718086|PMID:28492532|PMID:28941939|PMID:29500241|PMID:29888403|PMID:30560448|PMID:30674459|PMID:31447099|PMID:33519811|PMID:34189567|PMID:8072530|PMID:9536098
12149919	CFH	complement factor H	gene	DOID:9008867	C3 Glomerulopathy 3		ISO	RGD:1353869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II	PMID:11158219|PMID:11170895|PMID:11851332|PMID:11978762|PMID:12424708|PMID:12697737|PMID:15761120|PMID:15816899|PMID:16338962|PMID:16601698|PMID:16619239|PMID:18235085|PMID:19454698|PMID:19633317|PMID:19680263|PMID:20016463|PMID:20059470|PMID:20106822|PMID:20513133|PMID:21317894|PMID:21415311|PMID:21620101|PMID:21717289|PMID:22019782|PMID:22223606|PMID:22403278|PMID:22410797|PMID:23431077|PMID:23685748|PMID:24036949|PMID:24036952|PMID:24038559|PMID:24317637|PMID:24498017|PMID:25037630|PMID:25087612|PMID:25741868|PMID:25814826|PMID:25880396|PMID:25899302|PMID:26215151|PMID:26376859|PMID:26501415|PMID:26559391|PMID:26691988|PMID:26764160|PMID:26826462|PMID:28011711|PMID:28492532|PMID:28821363|PMID:28859202|PMID:28941939|PMID:29046944|PMID:29148534|PMID:29410599|PMID:29500241|PMID:29888403|PMID:30476936|PMID:30674459|PMID:30890598|PMID:31447099|PMID:31589614|PMID:31635417|PMID:34169201|PMID:34189567|PMID:34260947|PMID:34508573|PMID:34748552|PMID:34912830|PMID:35372954|PMID:36246952|PMID:36445700|PMID:36626252|PMID:36845135|PMID:37744338
12149919	CFH	complement factor H	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1353869	D	RGD:9068941	20200609	RGD			PMID:21637784|REF_RGD_ID:5684554
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12619036
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:69038	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16306374|REF_RGD_ID:1625238
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18422935
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:1612	breast cancer		ISO	RGD:69038	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:in patients with breast cancer versus benign breast disease (p=0.001)	PMID:10069662|REF_RGD_ID:2301715
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:1612	breast cancer	no_association	ISO	RGD:69038	D	RGD:9068941	20200609	RGD		higher serum expression in cases vs controls but association not significant in multivariate analysis	PMID:17287408|REF_RGD_ID:2301716
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:289	endometriosis		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:7540432
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69038	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16306374|REF_RGD_ID:1625238
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2872	D	RGD:9068941	20241123	RGD		mRNA:altered expression:kidney	PMID:7536658|REF_RGD_ID:152176653
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2872	D	RGD:9068941	20200609	RGD			PMID:12217886|REF_RGD_ID:625688
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:69038	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072
12149945	IGFBP1	insulin like growth factor binding protein 1	gene	DOID:9007730	Burns		ISO	RGD:2872	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney, liver	PMID:10827012|REF_RGD_ID:12910869
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0050567	orofacial cleft		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0070301	multiple epiphyseal dysplasia 6		ISO	RGD:1298223	D	RGD:7240710	20180130	OMIM			
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0070301	multiple epiphyseal dysplasia 6		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COL9A1-related condition | ClinVar Annotator: match by term: COL9A1-related disorder | ClinVar Annotator: match by term: Epiphyseal dysplasia, multiple, 6	PMID:11308397|PMID:11565064|PMID:16199547|PMID:16909383|PMID:17576681|PMID:21421862|PMID:24036952|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:30311386|PMID:33973556|PMID:9536098
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1298223	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1298223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1298223	D	RGD:9068941	20250710	RGD		mRNA:increased expression:heart left ventricle	PMID:27936202|REF_RGD_ID:617154591
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:1298223	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1596	depressive disorder		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1682	congenital heart disease		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1298223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11565064|PMID:16909383
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:2256	osteochondrodysplasia	susceptibility	ISO	RGD:1298223	D	RGD:9068941	20200609	RGD		DNA:mutation	PMID:11565064|REF_RGD_ID:1600949
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:3087	gingivitis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1298223	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:5679	retinal disease		ISO	RGD:1298223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16909383
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:5723	optic atrophy		ISO	RGD:1298223	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1298223	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:16909383|PMID:21421862|PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:65	connective tissue disease		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:11308397|PMID:17576681|PMID:24036952|PMID:25741868|PMID:26467025|PMID:27353947|PMID:28492532|PMID:30311386|PMID:33973556|PMID:9536098
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:824	periodontitis		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodontitis	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:8398	osteoarthritis		ISO	RGD:1319762	D	RGD:9068941	20220825	MouseDO		OMIM:140600 | OMIM:165720 | OMIM:607850 | OMIM:610839 | OMIM:612400 | OMIM:612401	
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:8501	fundus dystrophy		ISO	RGD:1298223	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9001539	Stickler Syndrome, Type IV		ISO	RGD:1298223	D	RGD:7240710	20180130	OMIM			
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9001539	Stickler Syndrome, Type IV		ISO	RGD:1298223	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE IV | ClinVar Annotator: match by term: Stickler syndrome, type 4	PMID:11565064|PMID:16909383|PMID:17576681|PMID:21421862|PMID:23967202|PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386|PMID:9536098
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:1298223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cafe au lait spots, multiple	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9004097	Marfanoid Hypermobility Syndrome		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Marfan syndrome type 1	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1298223	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:24036952|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30311386
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25741868|PMID:28492532
12149953	COL9A1	collagen type IX alpha 1 chain	gene	DOID:9970	obesity		ISO	RGD:1298223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:0060249	scoliosis		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:0112365	spondylocostal dysostosis 1		ISO	RGD:735462	D	RGD:7240710	20180704	OMIM			
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:0112365	spondylocostal dysostosis 1		ISO	RGD:735462	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DLL3-related condition | ClinVar Annotator: match by term: SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spondylocostal dysostosis 1, autosomal recessive | ClinVar Annotator: match by term: spondylocostal dysostosis 1, autosomal recessive	PMID:10742114|PMID:12746394|PMID:12791036|PMID:15200511|PMID:17041936|PMID:25741868|PMID:28492532
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:11193	syndactyly		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Non-syndromic syndactyly	PMID:15717203|PMID:18485326|PMID:25741868|PMID:28492532|PMID:29459493
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:1909	melanoma		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:1934	dysostosis		ISO	RGD:735462	D	RGD:9068941	20200609	RGD		DNA:nonsense mutations, missense mutation	PMID:10742114|REF_RGD_ID:1599775
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11146471
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:3069	malignant astrocytoma		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:4362	cervical cancer		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:630	genetic disease		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12746394|PMID:28492532
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:9006006	Spondylocostal Dysostosis, Autosomal Recessive		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735462	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12149997	DLL3	delta like canonical Notch ligand 3	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:735462	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17849441
12150007	C30H15orf61	chromosome 30 C15orf61 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2302457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1115	sarcoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:1909	melanoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:3275	thymoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5041	esophageal cancer		ISO	RGD:1348292	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150013	DNAJB12	DnaJ heat shock protein family (Hsp40) member B12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348292	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12150048	SERINC2	serine incorporator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150048	SERINC2	serine incorporator 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150048	SERINC2	serine incorporator 2	gene	DOID:1115	sarcoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150048	SERINC2	serine incorporator 2	gene	DOID:1324	lung cancer		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150048	SERINC2	serine incorporator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150048	SERINC2	serine incorporator 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150048	SERINC2	serine incorporator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150048	SERINC2	serine incorporator 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12150048	SERINC2	serine incorporator 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150048	SERINC2	serine incorporator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150048	SERINC2	serine incorporator 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150048	SERINC2	serine incorporator 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150076	MPST	mercaptopyruvate sulfurtransferase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150076	MPST	mercaptopyruvate sulfurtransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150076	MPST	mercaptopyruvate sulfurtransferase	gene	DOID:1909	melanoma		ISO	RGD:735977	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25205294
12150076	MPST	mercaptopyruvate sulfurtransferase	gene	DOID:4362	cervical cancer		ISO	RGD:735977	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150076	MPST	mercaptopyruvate sulfurtransferase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620065	D	RGD:9068941	20200609	RGD			PMID:20127051|REF_RGD_ID:5134362
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:10534	stomach cancer		ISO	RGD:1351645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:5041	esophageal cancer		ISO	RGD:1351645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:7240710	20210818	OMIM			
12150082	PIGF	phosphatidylinositol glycan anchor biosynthesis class F	gene	DOID:9001770	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME		ISO	RGD:1351645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME | ClinVar Annotator: match by term: PIGF-related condition	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:1909	melanoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604290	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150102	CSTPP1	centriolar satellite-associated tubulin polyglutamylase complex regulator 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:1324	lung cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150116	SLC35F5	solute carrier family 35 member F5	gene	DOID:9256	colorectal cancer		ISO	RGD:1317716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12150137	RPS19	ribosomal protein S19	gene	DOID:0111895	Diamond-Blackfan anemia 1		ISO	RGD:68661	D	RGD:7240710	20180606	OMIM			
12150137	RPS19	ribosomal protein S19	gene	DOID:0111895	Diamond-Blackfan anemia 1		ISO	RGD:68661	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 1 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 1	PMID:10590074|PMID:10598818|PMID:10753603|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:24952648|PMID:25741868|PMID:25946618|PMID:28102861|PMID:28492532|PMID:29766597|PMID:31574871|PMID:33718801|PMID:34671977|PMID:35923690|PMID:9988267
12150137	RPS19	ribosomal protein S19	gene	DOID:1115	sarcoma		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150137	RPS19	ribosomal protein S19	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:68661	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: AREGENERATIVE ANEMIA, CHRONIC CONGENITAL | ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: Red cell aplasia, pure hereditary	PMID:10590074|PMID:10598818|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19454283|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24033266|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:33718801|PMID:34110484|PMID:35923690|PMID:36321656|PMID:3769971|PMID:37897121|PMID:9536098|PMID:9988267
12150137	RPS19	ribosomal protein S19	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia | ClinVar Annotator: match by term: ERYTHROGENESIS IMPERFECTA	PMID:10590074|PMID:10753603|PMID:11112378|PMID:12586610|PMID:12750732|PMID:15059149|PMID:15075082|PMID:15384984|PMID:15523650|PMID:16159874|PMID:16199547|PMID:17053056|PMID:17082006|PMID:17376718|PMID:17517689|PMID:17576681|PMID:17726054|PMID:18217898|PMID:18412286|PMID:18768533|PMID:19454283|PMID:19689926|PMID:20378560|PMID:20395159|PMID:20603584|PMID:20606162|PMID:20960466|PMID:22045982|PMID:22262766|PMID:22381658|PMID:22783360|PMID:23349008|PMID:24675553|PMID:24952648|PMID:25042156|PMID:25132370|PMID:25381059|PMID:25703294|PMID:25741868|PMID:25946618|PMID:26136524|PMID:26604301|PMID:27329125|PMID:27882484|PMID:28102861|PMID:28376382|PMID:28492532|PMID:29114930|PMID:29766597|PMID:30503522|PMID:31574871|PMID:32742115|PMID:33718801|PMID:34110484|PMID:35923690|PMID:36321656|PMID:3769971|PMID:9536098|PMID:9988267
12150137	RPS19	ribosomal protein S19	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:10590074|PMID:10753603|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:18768533|PMID:20378560|PMID:20395159|PMID:20606162|PMID:20960466|PMID:24952648|PMID:25741868|PMID:25946618|PMID:28102861|PMID:28492532|PMID:29766597|PMID:33718801|PMID:9988267
12150137	RPS19	ribosomal protein S19	gene	DOID:5041	esophageal cancer		ISO	RGD:68661	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150137	RPS19	ribosomal protein S19	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150137	RPS19	ribosomal protein S19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150137	RPS19	ribosomal protein S19	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:68661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12150137	RPS19	ribosomal protein S19	gene	DOID:9000918	Disease Progression		ISO	RGD:68661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12150137	RPS19	ribosomal protein S19	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:68661	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12150137	RPS19	ribosomal protein S19	gene	DOID:9005736	Pallor		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pallor	PMID:10753603|PMID:12586610|PMID:12750732|PMID:15384984|PMID:16159874|PMID:17053056|PMID:17082006|PMID:17517689|PMID:17726054|PMID:18412286|PMID:20378560|PMID:20395159|PMID:20606162|PMID:24952648|PMID:25741868|PMID:28102861|PMID:28492532|PMID:9988267
12150137	RPS19	ribosomal protein S19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68661	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:10534	stomach cancer		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:10652	Alzheimer's disease		ISO	RGD:732553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19734902|PMID:21460841
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:1115	sarcoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:1909	melanoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:3275	thymoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:4362	cervical cancer		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:5041	esophageal cancer		ISO	RGD:732553	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732553	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30503753
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:732553	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732553	D	RGD:7240710	20180130	OMIM			
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732553	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: PICALM-related condition	PMID:24033266|PMID:25741868
12150147	PICALM	phosphatidylinositol binding clathrin assembly protein	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:732553	D	RGD:9068941	20200609	RGD		DNA:inversion: :inv(11)(q14q23)	PMID:12461747|REF_RGD_ID:1600760
12150205	PLCB4	phospholipase C beta 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:0060387	chondrodysplasia Blomstrand type		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondrodysplasia Blomstrand type	PMID:25741868
12150205	PLCB4	phospholipase C beta 4	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:733727	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 12	PMID:28492532|PMID:32733715
12150205	PLCB4	phospholipase C beta 4	gene	DOID:10283	prostate cancer		ISO	RGD:733727	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12150205	PLCB4	phospholipase C beta 4	gene	DOID:10283	prostate cancer		ISO	RGD:733727	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:10534	stomach cancer		ISO	RGD:733727	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:10907	microcephaly		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:1909	melanoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:2843	long QT syndrome		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:3275	thymoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:5041	esophageal cancer		ISO	RGD:733727	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:6039	uveal melanoma		ISO	RGD:733727	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:31186267
12150205	PLCB4	phospholipase C beta 4	gene	DOID:630	genetic disease		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9000208	Auriculocondylar Syndrome		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome	PMID:18314001|PMID:22560091|PMID:23315542|PMID:25741868|PMID:28492532|PMID:32201334|PMID:33131036|PMID:35170830
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9002492	Auriculocondylar Syndrome 1		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Auriculocondylar syndrome 1	PMID:22560091|PMID:28492532|PMID:35170830
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9005616	Micrognathism		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9006036	Auriculocondylar Syndrome 2		ISO	RGD:733727	D	RGD:7240710	20180130	OMIM			
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9006036	Auriculocondylar Syndrome 2		ISO	RGD:733727	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 2 | ClinVar Annotator: match by term: AURICULOCONDYLAR SYNDROME 2A | ClinVar Annotator: match by term: Auriculocondylar syndrome 2 | ClinVar Annotator: match by term: Auriculocondylar syndrome 2B | ClinVar Annotator: match by term: PLCB4-related condition | ClinVar Annotator: match by term: auriculocondylar syndrome 2	PMID:22560091|PMID:25741868|PMID:28492532|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288|PMID:35284927|PMID:38703036
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:31186267|PMID:31395954|PMID:32826208|PMID:33258288
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150205	PLCB4	phospholipase C beta 4	gene	DOID:9256	colorectal cancer		ISO	RGD:733727	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:10283	prostate cancer		ISO	RGD:1348366	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150253	TSNAXIP1	translin associated factor X interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1312564	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:0111998	immunodeficiency 66		ISO	RGD:1312564	D	RGD:7240710	20200429	OMIM			
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:0111998	immunodeficiency 66		ISO	RGD:1312564	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 66 | ClinVar Annotator: match by term: MRTFA-related condition	PMID:25741868|PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1304873	D	RGD:9068941	20241219	RGD		protein:altered expression:brain cortex	PMID:27387387|REF_RGD_ID:596933302
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:1115	sarcoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:11830	myopia		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:1596	depressive disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:2030	anxiety disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:224	transient cerebral ischemia	disease_progression	ISO	RGD:1304873	D	RGD:9068941	20241219	RGD			PMID:28230854|REF_RGD_ID:596933303
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:2841	asthma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:3312	bipolar disorder		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:5082	liver cirrhosis		ISO	RGD:1312564	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:5082	liver cirrhosis	ameliorates	ISO	RGD:1312565	D	RGD:9068941	20241205	RGD			PMID:26693892|REF_RGD_ID:11555770
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:8761	acute megakaryocytic leukemia		ISO	RGD:1312564	D	RGD:9068941	20200609	RGD			PMID:11431691|REF_RGD_ID:1599948
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9001733	Tinnitus		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9003539	Hyperacusis		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1304873	D	RGD:9068941	20241219	RGD			PMID:25633973|REF_RGD_ID:596933353
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9004657	Weight Gain		ISO	RGD:1312564	D	RGD:9068941	20240905	CTD		CTD Direct Evidence: therapeutic	PMID:33779332
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9007736	Vertigo		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9008421	Epistaxis		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9834	hyperopia		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12150278	MRTFA	myocardin related transcription factor A	gene	DOID:9970	obesity		ISO	RGD:1312564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:10534	stomach cancer		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:1115	sarcoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:4362	cervical cancer		ISO	RGD:1602226	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:6039	uveal melanoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9003566	Mesothelioma		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150297	MGAT4B	alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150316	SQSTM1	sequestosome 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:0060213	C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	PMID:11473345|PMID:11992264|PMID:12374763|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23117207|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24138988|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25410659|PMID:25433461|PMID:25512523|PMID:25664955|PMID:25708934|PMID:25741868|PMID:25796131|PMID:26242991|PMID:26467025|PMID:26601740|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27554286|PMID:27594680|PMID:27631370|PMID:28003435|PMID:28430856|PMID:28490746|PMID:28492532|PMID:28642336|PMID:29411640|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29948344|PMID:29959261|PMID:30120248|PMID:30154079|PMID:30638816|PMID:30842500|PMID:31116477|PMID:31362587|PMID:31434890|PMID:31445297|PMID:31859009|PMID:31996268|PMID:32028661|PMID:32036052|PMID:32176830|PMID:32385536|PMID:32397312|PMID:32409511|PMID:32579787|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33125541|PMID:33325387|PMID:33601107|PMID:33612544|PMID:33973882|PMID:34009082|PMID:34020145|PMID:34275688|PMID:34307757|PMID:34426522|PMID:34929165|PMID:35241069|PMID:35260199|PMID:35896380|PMID:35964197|PMID:36133075|PMID:36515702|PMID:36549973|PMID:36861178|PMID:37205240|PMID:37205252|PMID:37370996|PMID:37952009|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39122262|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727|PMID:9536098
12150316	SQSTM1	sequestosome 1	gene	DOID:0060249	scoliosis		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
12150316	SQSTM1	sequestosome 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736484	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12150316	SQSTM1	sequestosome 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736485	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12150316	SQSTM1	sequestosome 1	gene	DOID:0080718	GNE myopathy		ISO	RGD:736484	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	
12150316	SQSTM1	sequestosome 1	gene	DOID:0081363	distal myopathy with rimmed vacuoles		ISO	RGD:736484	D	RGD:7240710	20230607	OMIM			
12150316	SQSTM1	sequestosome 1	gene	DOID:0081363	distal myopathy with rimmed vacuoles		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, distal, with rimmed vacuoles	PMID:21073987|PMID:25433461|PMID:25741868|PMID:25796131|PMID:26467025|PMID:27275741|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		ISO	RGD:736484	D	RGD:7240710	20190315	OMIM			
12150316	SQSTM1	sequestosome 1	gene	DOID:0081364	neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25410659|PMID:25433461|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29948344|PMID:29959261|PMID:30154079|PMID:32176830|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33612544|PMID:34426522|PMID:35241069|PMID:35260199|PMID:36133075|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727
12150316	SQSTM1	sequestosome 1	gene	DOID:0081365	Paget disease of bone 2		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paget disease of bone 2 | ClinVar Annotator: match by term: Paget disease of bone 2, early-onset	PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15146436|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17120186|PMID:17129171|PMID:17188686|PMID:17229007|PMID:17229008|PMID:17576681|PMID:18543015|PMID:18765443|PMID:19049332|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22491873|PMID:22972638|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23812289|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24642144|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25410659|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26242991|PMID:26467025|PMID:26627873|PMID:26713335|PMID:26836416|PMID:27158844|PMID:27163810|PMID:27275741|PMID:27545679|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29948344|PMID:29959261|PMID:30154079|PMID:30842500|PMID:31116477|PMID:31445297|PMID:31859009|PMID:31996268|PMID:32036052|PMID:32176830|PMID:32385536|PMID:32397312|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33601107|PMID:33612544|PMID:33973882|PMID:34275688|PMID:34307757|PMID:34426522|PMID:35241069|PMID:35260199|PMID:35896380|PMID:35964197|PMID:36133075|PMID:36515702|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39122262|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727|PMID:9536098
12150316	SQSTM1	sequestosome 1	gene	DOID:0081366	Paget disease of bone 3		ISO	RGD:736484	D	RGD:7240710	20190327	OMIM			
12150316	SQSTM1	sequestosome 1	gene	DOID:0081366	Paget disease of bone 3		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PAGET DISEASE OF BONE 3 | ClinVar Annotator: match by term: Paget disease of bone 3	PMID:11473345|PMID:11992264|PMID:12374763|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16199547|PMID:16813535|PMID:17129171|PMID:17188686|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23447461|PMID:23612225|PMID:23820649|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24486447|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25410659|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26208961|PMID:26242991|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27163810|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29948344|PMID:30154079|PMID:31116477|PMID:31445297|PMID:31859009|PMID:32036052|PMID:32176830|PMID:32385536|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33601107|PMID:33612544|PMID:34426522|PMID:35241069|PMID:35260199|PMID:36133075|PMID:36515702|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39122262|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727
12150316	SQSTM1	sequestosome 1	gene	DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3		ISO	RGD:736484	D	RGD:7240710	20180130	OMIM			
12150316	SQSTM1	sequestosome 1	gene	DOID:0110068	frontotemporal dementia and/or amyotrophic lateral sclerosis 3		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	PMID:11473345|PMID:11992264|PMID:14584883|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16691492|PMID:16813535|PMID:17188686|PMID:17229007|PMID:17229008|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20200946|PMID:20499339|PMID:21073987|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:22972638|PMID:23417734|PMID:23612225|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25382069|PMID:25410659|PMID:25433461|PMID:25512523|PMID:25741868|PMID:25796131|PMID:26467025|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28003435|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29525180|PMID:29599744|PMID:29895397|PMID:29948344|PMID:30154079|PMID:30842500|PMID:31116477|PMID:31859009|PMID:32036052|PMID:32176830|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33612544|PMID:34426522|PMID:35241069|PMID:35260199|PMID:36133075|PMID:36515702|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727
12150316	SQSTM1	sequestosome 1	gene	DOID:10534	stomach cancer		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150316	SQSTM1	sequestosome 1	gene	DOID:1059	intellectual disability		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:10603	glucose intolerance		ISO	RGD:736484	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
12150316	SQSTM1	sequestosome 1	gene	DOID:10763	hypertension		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:23499735|REF_RGD_ID:11561939
12150316	SQSTM1	sequestosome 1	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:736485	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12150316	SQSTM1	sequestosome 1	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:736485	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
12150316	SQSTM1	sequestosome 1	gene	DOID:1324	lung cancer		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150316	SQSTM1	sequestosome 1	gene	DOID:1389	polyneuropathy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
12150316	SQSTM1	sequestosome 1	gene	DOID:1686	glaucoma		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:increased expression:optic nerve	PMID:24136224|REF_RGD_ID:13782046
12150316	SQSTM1	sequestosome 1	gene	DOID:1891	optic nerve disease		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	
12150316	SQSTM1	sequestosome 1	gene	DOID:1909	melanoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25410659|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29948344|PMID:30154079|PMID:32176830|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33612544|PMID:34426522|PMID:35241069|PMID:35260199|PMID:36133075|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727
12150316	SQSTM1	sequestosome 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:4448	macular degeneration		ISO	RGD:736484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23922739
12150316	SQSTM1	sequestosome 1	gene	DOID:480	movement disease		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
12150316	SQSTM1	sequestosome 1	gene	DOID:5408	Paget disease of bone		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Osteitis deformans	PMID:11473345|PMID:11992264|PMID:15125799|PMID:15176995|PMID:15493999|PMID:15647816|PMID:15765181|PMID:16813535|PMID:17229007|PMID:18543015|PMID:18765443|PMID:19257822|PMID:19589897|PMID:20499339|PMID:21195346|PMID:21515589|PMID:21878516|PMID:22084127|PMID:23417734|PMID:23942205|PMID:24033266|PMID:24042580|PMID:24899140|PMID:25241215|PMID:25410659|PMID:25741868|PMID:26627873|PMID:26713335|PMID:27275741|PMID:27594680|PMID:28430856|PMID:28492532|PMID:29457785|PMID:29599744|PMID:29948344|PMID:30154079|PMID:32176830|PMID:32409511|PMID:32594029|PMID:32893041|PMID:32978683|PMID:33015249|PMID:33325387|PMID:33612544|PMID:34426522|PMID:35241069|PMID:35260199|PMID:36133075|PMID:36861178|PMID:37205240|PMID:37370996|PMID:38016875|PMID:38493523|PMID:38702915|PMID:38960585|PMID:39044379|PMID:39142003|PMID:39563277|PMID:39669768|PMID:40208338|PMID:40225153|PMID:40342188|PMID:40395983|PMID:40772172|PMID:40847817|PMID:41077880|PMID:41137727
12150316	SQSTM1	sequestosome 1	gene	DOID:543	dystonia		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:24042580|PMID:24899140|PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532|PMID:31859009
12150316	SQSTM1	sequestosome 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:630	genetic disease		ISO	RGD:736484	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17188686|PMID:23812289|PMID:24899140|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31116477|PMID:34275688
12150316	SQSTM1	sequestosome 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:767	muscular atrophy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular atrophy	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
12150316	SQSTM1	sequestosome 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:736484	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
12150316	SQSTM1	sequestosome 1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
12150316	SQSTM1	sequestosome 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:69287	D	RGD:9068941	20200609	RGD		protein:decreased expression:basal ganglion	PMID:23884876|REF_RGD_ID:11561935
12150316	SQSTM1	sequestosome 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12150316	SQSTM1	sequestosome 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
12150316	SQSTM1	sequestosome 1	gene	DOID:9004866	Ataxia		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9004947	hippocampal atrophy		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hippocampal atrophy	PMID:25741868|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9005219	Abnormal Reflexes		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperreflexia	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
12150316	SQSTM1	sequestosome 1	gene	DOID:9005587	Starvation		ISO	RGD:736484	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12150316	SQSTM1	sequestosome 1	gene	DOID:9005809	Thyroid Nodule		ISO	RGD:736484	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid nodule	PMID:25741868|PMID:26467025|PMID:27545679|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150316	SQSTM1	sequestosome 1	gene	DOID:9007114	Mobility Limitation		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Difficulty walking	PMID:25741868|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:24042580|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31859009
12150316	SQSTM1	sequestosome 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736484	D	RGD:9068941	20240404	CTD		CTD Direct Evidence: therapeutic	PMID:33933676
12150316	SQSTM1	sequestosome 1	gene	DOID:9007736	Vertigo		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17188686|PMID:24899140|PMID:25741868|PMID:28492532|PMID:31116477
12150316	SQSTM1	sequestosome 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150316	SQSTM1	sequestosome 1	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:736484	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorimotor neuropathy	PMID:25741868|PMID:28492532
12150316	SQSTM1	sequestosome 1	gene	DOID:9408	acute myocardial infarction	treatment	ISO	RGD:69287	D	RGD:9068941	20241026	RGD			PMID:30144448|REF_RGD_ID:407571674
12150316	SQSTM1	sequestosome 1	gene	DOID:9923	developmental coordination disorder		ISO	RGD:736484	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:32773031
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:0061063	immunodeficiency 93		ISO	RGD:1606476	D	RGD:7240710	20220202	OMIM			
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:0061063	immunodeficiency 93		ISO	RGD:1606476	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FNIP1-related condition | ClinVar Annotator: match by term: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY | ClinVar Annotator: match by term: Immunodeficiency 93 and hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1606476	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:630	genetic disease		ISO	RGD:1606476	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12150326	FNIP1	folliculin interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150358	MC4R	melanocortin 4 receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:733058	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cone-Rod Dystrophy, Recessive	PMID:10903341|PMID:12499395|PMID:12690102|PMID:16507637|PMID:16611215|PMID:18559663|PMID:23791567|PMID:25741868|PMID:25741869|PMID:30004997
12150358	MC4R	melanocortin 4 receptor	gene	DOID:0050741	alcohol dependence	treatment	ISO	RGD:3057	D	RGD:9068941	20241010	RGD			PMID:24635847|REF_RGD_ID:407572518
12150358	MC4R	melanocortin 4 receptor	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:735526	D	RGD:9068941	20220825	MouseDO			
12150358	MC4R	melanocortin 4 receptor	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:21985621|REF_RGD_ID:6484557
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10078568|PMID:10199800|PMID:10903343|PMID:12690102|PMID:14633862|PMID:16231025|PMID:16960181|PMID:18801902|PMID:19091795|PMID:19889825|PMID:21404042|PMID:22106157|PMID:22447289|PMID:24276017|PMID:25332687|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30811542|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:11830	myopia		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:11981	morbid obesity		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29273807|PMID:29311635
12150358	MC4R	melanocortin 4 receptor	gene	DOID:11981	morbid obesity		ISO	RGD:733058	D	RGD:9068941	20200609	RGD			PMID:11443223|PMID:12588803|REF_RGD_ID:1600750|REF_RGD_ID:1600755
12150358	MC4R	melanocortin 4 receptor	gene	DOID:13938	amenorrhea		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:14764818|PMID:15126516|PMID:15466016|PMID:15486053|PMID:16083993|PMID:16274851|PMID:16289450|PMID:16492696|PMID:16507637|PMID:16616374|PMID:16752916|PMID:17357083|PMID:17579204|PMID:17668051|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19766264|PMID:20696697|PMID:20966905|PMID:21085626|PMID:21404042|PMID:22447289|PMID:22688572|PMID:23146882|PMID:23791567|PMID:24385306|PMID:24611737|PMID:25741868|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:29273807|PMID:29970488|PMID:30048591|PMID:30926952
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3057	D	RGD:9068941	20250417	RGD			PMID:31840601|REF_RGD_ID:598130077
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1596	depressive disorder		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:3057	D	RGD:9068941	20241010	RGD		associated with alcohol use disorder; associated with alcohol withdrawal syndrome	PMID:18499089|REF_RGD_ID:407572521
12150358	MC4R	melanocortin 4 receptor	gene	DOID:1827	generalized epilepsy		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
12150358	MC4R	melanocortin 4 receptor	gene	DOID:2018	hyperinsulinism		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23251400
12150358	MC4R	melanocortin 4 receptor	gene	DOID:2030	anxiety disorder		ISO	RGD:3057	D	RGD:9068941	20240718	RGD		associated with Binge Drinking;protein:increased expression:amygdala, hyopothalamus	PMID:28575455|REF_RGD_ID:406200805
12150358	MC4R	melanocortin 4 receptor	gene	DOID:219	colon cancer		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:2234	focal epilepsy		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
12150358	MC4R	melanocortin 4 receptor	gene	DOID:2560	morphine dependence		ISO	RGD:3057	D	RGD:9068941	20241010	RGD		mRNA:altered expression:brain	PMID:8794897|REF_RGD_ID:1566548
12150358	MC4R	melanocortin 4 receptor	gene	DOID:3087	gingivitis		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gingivitis	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:5419	schizophrenia		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:6543	acne		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	PMID:12499395|PMID:12970296|PMID:14764818|PMID:15126516|PMID:15466016|PMID:16083993|PMID:16289450|PMID:16492696|PMID:16752916|PMID:17357083|PMID:17579204|PMID:17668051|PMID:18559663|PMID:19091795|PMID:19284607|PMID:19298524|PMID:19400288|PMID:19766264|PMID:20696697|PMID:21085626|PMID:21404042|PMID:22447289|PMID:22688572|PMID:23146882|PMID:23791567|PMID:24385306|PMID:24611737|PMID:25741868|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:30048591|PMID:30926952
12150358	MC4R	melanocortin 4 receptor	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pyoderma gangrenosum	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9001733	Tinnitus		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:18559663|PMID:21729752|PMID:23791567|PMID:24611737|PMID:24705671|PMID:28492532|PMID:30926952|PMID:31002796|PMID:33761344|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		protein:increased expression:dorsal root ganglia (rat)	PMID:20081244|REF_RGD_ID:6484233
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9002554	Tachycardia		ISO	RGD:3057	D	RGD:9068941	20241017	RGD			PMID:23832700|REF_RGD_ID:407580530
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9002589	Bone Fractures		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9002916	Hyperphagia		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23251400
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9003816	Macrocephaly		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9004581	Pediatric Obesity		ISO	RGD:733058	D	RGD:9068941	20260312	RGD		DNA:SNP: :rs571312	PMID:25953783|REF_RGD_ID:11055817
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonic seizure	PMID:10199800|PMID:10903341|PMID:10903343|PMID:11487744|PMID:12588803|PMID:12646665|PMID:12690102|PMID:12970296|PMID:15486053|PMID:16507637|PMID:16752916|PMID:17628007|PMID:18559663|PMID:20631012|PMID:20826565|PMID:23146882|PMID:25332687|PMID:25741868|PMID:27222505|PMID:28492532|PMID:29970488|PMID:30991789|PMID:32185475
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9005827	Spontaneous Fractures		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pathologic fracture	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9005930	Endotoxemia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD		mRNA:increased expression:paraventricular nucleus (rat)	PMID:21343543|REF_RGD_ID:6484214
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007001	Bradycardia		ISO	RGD:3057	D	RGD:9068941	20200609	RGD			PMID:24400148|REF_RGD_ID:13825242
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007346	Cachexia		ISO	RGD:735526	D	RGD:9068941	20200609	RGD		associated with Myocardial Infarction	PMID:20371568|REF_RGD_ID:6484229
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007633	Body Weight		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22344219|PMID:22344221
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3057	D	RGD:9068941	20210611	RGD		DNA:nonsense mutation:cds:p.K314X (rat)	PMID:24400148|REF_RGD_ID:13825242
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3057	D	RGD:9068941	20240201	RGD		mRNA, protein:decreased expression:liver (rat)	PMID:35945320|REF_RGD_ID:329951016
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9007692	Insulin Resistance		ISO	RGD:733058	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18454146
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12499395|PMID:12646665|PMID:12690102|PMID:12851297|PMID:12970296|PMID:15486053|PMID:16274851|PMID:16507637|PMID:16616374|PMID:16752916|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19301229|PMID:20966905|PMID:25741868|PMID:28492532|PMID:29273807|PMID:29970488
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9008953	Binge-Eating Disorder		ISO	RGD:733058	D	RGD:9068941	20200609	RGD			PMID:12646666|REF_RGD_ID:1600752
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9351	diabetes mellitus		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:10199800|PMID:10577903|PMID:10903341|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12851297|PMID:12970296|PMID:14633862|PMID:14764818|PMID:15126516|PMID:15466016|PMID:15486053|PMID:154889963|PMID:15975705|PMID:16030156|PMID:16083993|PMID:16274851|PMID:16289450|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16752916|PMID:16960181|PMID:17306938|PMID:17357083|PMID:17579204|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:19091795|PMID:19179454|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20696697|PMID:20966905|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22492873|PMID:22688572|PMID:23146882|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24611737|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26238496|PMID:26244670|PMID:26467025|PMID:27222505|PMID:28492532|PMID:29273807|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:733058	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:14633862|PMID:16960181|PMID:18801902|PMID:19091795|PMID:19889825|PMID:22106157|PMID:24276017|PMID:25332687|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30811542|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:35562395
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28166811|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30811542|PMID:30926952|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32534219|PMID:32952152|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity, autosomal dominant | ClinVar Annotator: match by term: SIM1-related condition	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32185475|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20240604	ClinVar		ClinVar Annotator: match by term: ADCY3-related condition | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant | ClinVar Annotator: match by term: SIM1-related condition	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:32185475|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12032748|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16886960|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17356525|PMID:17357083|PMID:17418015|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17587397|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19696756|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:22822657|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29273807|PMID:29311635|PMID:29679223|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30068297|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:31947684|PMID:32185475|PMID:32534219|PMID:32916307|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:36775011|PMID:38528040|PMID:8392067|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Monogenic Non-Syndromic Obesity | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10592235|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12032748|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12815165|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14633862|PMID:14764812|PMID:14764818|PMID:14973783|PMID:15037865|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15585384|PMID:15805150|PMID:15975705|PMID:16030156|PMID:16032553|PMID:16083993|PMID:16094248|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16886960|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17356525|PMID:17357083|PMID:17418015|PMID:17492953|PMID:17517246|PMID:17519222|PMID:17579204|PMID:17587397|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19696756|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22688572|PMID:22822657|PMID:23146882|PMID:23251400|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:24890885|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27654141|PMID:28218067|PMID:28492532|PMID:29031731|PMID:29273807|PMID:29311635|PMID:29679223|PMID:29758564|PMID:29861388|PMID:29970488|PMID:30048591|PMID:30068297|PMID:30586318|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30991789|PMID:31002796|PMID:31118516|PMID:31841602|PMID:31947684|PMID:32185475|PMID:32534219|PMID:32916307|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:35562395|PMID:36775011|PMID:38528040|PMID:8392067|PMID:9267995
12150358	MC4R	melanocortin 4 receptor	gene	DOID:9970	obesity		ISO	RGD:733058	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: MC4R-related disorder | ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder | ClinVar Annotator: match by term: Obesity due to melanocortin 4 receptor deficiency | ClinVar Annotator: match by term: Obesity, autosomal dominant	PMID:10078568|PMID:10199800|PMID:10577903|PMID:10585465|PMID:10903341|PMID:10903343|PMID:11443223|PMID:11487744|PMID:12364414|PMID:12364415|PMID:12499395|PMID:12588803|PMID:12629567|PMID:12646665|PMID:12646666|PMID:12690102|PMID:12851297|PMID:12959994|PMID:12970296|PMID:14504270|PMID:14633860|PMID:14633862|PMID:14764812|PMID:14764818|PMID:15126516|PMID:15448103|PMID:15466016|PMID:15486053|PMID:15489963|PMID:15975705|PMID:16030156|PMID:16083993|PMID:16231025|PMID:16274851|PMID:16289450|PMID:16469222|PMID:16492696|PMID:16507637|PMID:16611215|PMID:16614075|PMID:16616374|PMID:16710097|PMID:16752916|PMID:16960181|PMID:17185898|PMID:17286227|PMID:17306938|PMID:17357083|PMID:17492953|PMID:17579204|PMID:17590021|PMID:17628007|PMID:17668051|PMID:17986382|PMID:18559663|PMID:18777518|PMID:18801902|PMID:18835933|PMID:18997677|PMID:19011902|PMID:19091795|PMID:19179454|PMID:19184404|PMID:19244934|PMID:19284607|PMID:19298524|PMID:19301229|PMID:19400288|PMID:19417090|PMID:19766264|PMID:19889825|PMID:20462274|PMID:20631012|PMID:20696697|PMID:20826565|PMID:20966905|PMID:20975296|PMID:21085626|PMID:21404042|PMID:21719532|PMID:21729752|PMID:22106157|PMID:22447289|PMID:22463805|PMID:22492873|PMID:22688572|PMID:23146882|PMID:23505181|PMID:23791567|PMID:24248383|PMID:24276017|PMID:24385306|PMID:24426828|PMID:24512492|PMID:24611737|PMID:24705671|PMID:24780838|PMID:25076858|PMID:25136332|PMID:25332687|PMID:25741868|PMID:25741869|PMID:26047380|PMID:26179253|PMID:26238496|PMID:26244670|PMID:26467025|PMID:26588347|PMID:26666384|PMID:26782456|PMID:26788538|PMID:27222505|PMID:27701398|PMID:28218067|PMID:28492532|PMID:28663568|PMID:29273807|PMID:29311635|PMID:29736023|PMID:29758564|PMID:29790872|PMID:29861388|PMID:29970488|PMID:29991773|PMID:30048591|PMID:30719650|PMID:30811542|PMID:30926952|PMID:30981838|PMID:30991789|PMID:31002795|PMID:31002796|PMID:31035493|PMID:31118516|PMID:31417496|PMID:31589614|PMID:31751304|PMID:31841602|PMID:31980526|PMID:32185475|PMID:32349990|PMID:32534219|PMID:32952152|PMID:32971154|PMID:33761344|PMID:33889637|PMID:34045736|PMID:35460704|PMID:35562395|PMID:38402868|PMID:39552559
12150361	HSPB6	heat shock protein family B (small) member 6	gene	DOID:114	heart disease		ISO	RGD:1343256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18948619
12150361	HSPB6	heat shock protein family B (small) member 6	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1343256	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18948619
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27668656
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314878	D	RGD:9068941	20220825	MouseDO			
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1314877	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract	PMID:25741868|PMID:39420202
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314877	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:10283	prostate cancer		ISO	RGD:1314877	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12150368	TSHZ3	teashirt zinc finger homeobox 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314877	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:0060058	lymphoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:10534	stomach cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:1115	sarcoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:1324	lung cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:3275	thymoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:4362	cervical cancer		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605837	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:5419	schizophrenia		ISO	RGD:1605837	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150374	ALS2CL	ALS2 C-terminal like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605837	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:10907	microcephaly		ISO	RGD:732621	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:28492532
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:1115	sarcoma		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:732621	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31101655
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:630	genetic disease		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31618753
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:9004290	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination		ISO	RGD:732621	D	RGD:7240710	20190315	OMIM			
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:9004290	Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination		ISO	RGD:732621	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NACC1-Related Disorder | ClinVar Annotator: match by term: NACC1-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination	PMID:25741868|PMID:28132692|PMID:28492532
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732621	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150419	NACC1	nucleus accumbens associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732621	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150429	ASB18	ankyrin repeat and SOCS box containing 18	gene	DOID:4362	cervical cancer		ISO	RGD:1602398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150429	ASB18	ankyrin repeat and SOCS box containing 18	gene	DOID:5041	esophageal cancer		ISO	RGD:1602398	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150429	ASB18	ankyrin repeat and SOCS box containing 18	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602398	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12150445	ZNF648	zinc finger protein 648	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12150445	ZNF648	zinc finger protein 648	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606465	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150451	VASH1	vasohibin 1	gene	DOID:10762	portal hypertension	disease_progression	ISO	RGD:1564082	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
12150451	VASH1	vasohibin 1	gene	DOID:10762	portal hypertension	treatment	ISO	RGD:1352548	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
12150451	VASH1	vasohibin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150451	VASH1	vasohibin 1	gene	DOID:1324	lung cancer		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150451	VASH1	vasohibin 1	gene	DOID:3275	thymoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150451	VASH1	vasohibin 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1352548	D	RGD:9068941	20200609	RGD		associated with Hepatitis C, Chronic; protein:increased expression:liver	PMID:24390792|REF_RGD_ID:15003198
12150451	VASH1	vasohibin 1	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:1352548	D	RGD:9068941	20200609	RGD			PMID:24390792|REF_RGD_ID:15003198
12150451	VASH1	vasohibin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150451	VASH1	vasohibin 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12150451	VASH1	vasohibin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150468	TMEM203	transmembrane protein 203	gene	DOID:1826	epilepsy		ISO	RGD:1605598	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure	
12150482	ACTR8	actin related protein 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150482	ACTR8	actin related protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150482	ACTR8	actin related protein 8	gene	DOID:10534	stomach cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150482	ACTR8	actin related protein 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150482	ACTR8	actin related protein 8	gene	DOID:1324	lung cancer		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150482	ACTR8	actin related protein 8	gene	DOID:1909	melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150482	ACTR8	actin related protein 8	gene	DOID:3275	thymoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150482	ACTR8	actin related protein 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150482	ACTR8	actin related protein 8	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12150482	ACTR8	actin related protein 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150482	ACTR8	actin related protein 8	gene	DOID:6039	uveal melanoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12150482	ACTR8	actin related protein 8	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12150482	ACTR8	actin related protein 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150506	TAFA5	TAFA chemokine like family member 5	gene	DOID:10534	stomach cancer		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150506	TAFA5	TAFA chemokine like family member 5	gene	DOID:1909	melanoma		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150506	TAFA5	TAFA chemokine like family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342880	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:0061055	immunodeficiency 85		ISO	RGD:1317553	D	RGD:7240710	20210908	OMIM			
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:0061055	immunodeficiency 85		ISO	RGD:1317553	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 85 and autoimmunity	PMID:25741868
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:1115	sarcoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:1324	lung cancer		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:1909	melanoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12150528	TOM1	target of myb1 membrane trafficking protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317553	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:0060842	syndromic microphthalmia 16		ISO	RGD:1606797	D	RGD:7240710	20180130	OMIM			
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:0060842	syndromic microphthalmia 16		ISO	RGD:1606797	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 3 | ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 16 | ClinVar Annotator: match by term: Microphthalmia, isolated 3 | ClinVar Annotator: match by term: RAX-related condition	PMID:22736936|PMID:25741868|PMID:28492532
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:1909	melanoma		ISO	RGD:1606797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16778180
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:630	genetic disease		ISO	RGD:1606797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:9002049	Anophthalmia		ISO	RGD:1606797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15789424
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606797	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:27941970
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1606797	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:27941970
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:9008622	Adrenal Insufficiency		ISO	RGD:1606797	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:27941970
12150547	RAX	retina and anterior neural fold homeobox	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1606797	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15789424
12150553	MINAR1	membrane integral NOTCH2 associated receptor 1	gene	DOID:1324	lung cancer		ISO	RGD:1604043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150553	MINAR1	membrane integral NOTCH2 associated receptor 1	gene	DOID:1909	melanoma		ISO	RGD:1604043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150553	MINAR1	membrane integral NOTCH2 associated receptor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150553	MINAR1	membrane integral NOTCH2 associated receptor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604043	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150572	RHOD	ras homolog family member D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150572	RHOD	ras homolog family member D	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150572	RHOD	ras homolog family member D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150572	RHOD	ras homolog family member D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322195	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150581	CXHXorf66	chromosome X CXorf66 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150581	CXHXorf66	chromosome X CXorf66 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, moderate	PMID:25741868
12150592	LMTK3	lemur tail kinase 3	gene	DOID:1826	epilepsy		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12150592	LMTK3	lemur tail kinase 3	gene	DOID:3275	thymoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150592	LMTK3	lemur tail kinase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351306	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150618	MIR335	microRNA mir-335	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1350498	D	RGD:9068941	20200609	RGD			PMID:21822301|REF_RGD_ID:14394425
12150618	MIR335	microRNA mir-335	gene	DOID:10591	pre-eclampsia		ISO	RGD:1350498	D	RGD:9068941	20230128	RGD		miRNA:decreased expression:blood serum (human)	PMID:25017274|REF_RGD_ID:155882496
12150618	MIR335	microRNA mir-335	gene	DOID:3021	acute kidney failure		ISO	RGD:1350498	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:36052886
12150618	MIR335	microRNA mir-335	gene	DOID:4989	pancreatitis		ISO	RGD:1350498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12150618	MIR335	microRNA mir-335	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1350498	D	RGD:9068941	20200609	RGD		associated with stomach cancer; RNA:decreased expression:stomach	PMID:21822301|REF_RGD_ID:14394425
12150618	MIR335	microRNA mir-335	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1350498	D	RGD:9068941	20200609	RGD		lung metastasis	PMID:21822301|REF_RGD_ID:14394425
12150618	MIR335	microRNA mir-335	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1350498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12150618	MIR335	microRNA mir-335	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12150618	MIR335	microRNA mir-335	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1350498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12150618	MIR335	microRNA mir-335	gene	DOID:9256	colorectal cancer		ISO	RGD:1350498	D	RGD:9068941	20220721	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12150618	MIR335	microRNA mir-335	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350498	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12150641	ZNF567	zinc finger protein 567	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150641	ZNF567	zinc finger protein 567	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346041	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:1115	sarcoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:1324	lung cancer		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:5041	esophageal cancer		ISO	RGD:1320179	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150785	MRPS30	mitochondrial ribosomal protein S30	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320179	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:733511	D	RGD:9068941	20240530	RGD		DNA:SNP: :rs2304297(human)	PMID:18704094|REF_RGD_ID:405849394
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence		ISO	RGD:733511	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:20418888|PMID:28851948
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0050742	nicotine dependence	susceptibility	ISO	RGD:733511	D	RGD:9068941	20240523	RGD		DNA:SNP,haplotypes: :	PMID:28851948|REF_RGD_ID:405849281
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:0060001	withdrawal disorder		ISO	RGD:733511	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19644040
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:1574	alcohol use disorder	severity	ISO	RGD:733511	D	RGD:9068941	20240530	RGD		DNA:haplotypes: :	PMID:19698703|REF_RGD_ID:405849410
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:809	cocaine abuse	susceptibility	ISO	RGD:733511	D	RGD:9068941	20240523	RGD		DNA:SNP::rs892413(human)	PMID:24675634|REF_RGD_ID:405849277
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150794	CHRNA6	cholinergic receptor nicotinic alpha 6 subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733511	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1618278	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:14679	VACTERL association		ISO	RGD:1618278	D	RGD:9068941	20220825	MouseDO		OMIM:192350 | OMIM:276950	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150819	CPLANE2	ciliogenesis and planar polarity effector complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603381	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150839	NODAL	nodal growth differentiation factor	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heterotaxy syndrome | ClinVar Annotator: match by term: heterotaxia syndrome	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:31564432|PMID:34645491|PMID:38570875
12150839	NODAL	nodal growth differentiation factor	gene	DOID:1682	congenital heart disease		ISO	RGD:1314354	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: congenital heart defects	PMID:1135141
12150839	NODAL	nodal growth differentiation factor	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Basal cell carcinoma, susceptibility to, 4	PMID:25741868
12150839	NODAL	nodal growth differentiation factor	gene	DOID:3275	thymoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150839	NODAL	nodal growth differentiation factor	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:38570875
12150839	NODAL	nodal growth differentiation factor	gene	DOID:4621	holoprosencephaly		ISO	RGD:1314354	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:19064609|PMID:19553149|PMID:22352765|PMID:24033266|PMID:25741868|PMID:28492532
12150839	NODAL	nodal growth differentiation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150839	NODAL	nodal growth differentiation factor	gene	DOID:630	genetic disease		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19064609|PMID:19553149|PMID:25741868|PMID:28492532|PMID:31019026|PMID:38570875
12150839	NODAL	nodal growth differentiation factor	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1314354	D	RGD:7240710	20180130	OMIM			
12150839	NODAL	nodal growth differentiation factor	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HETEROTAXY, VISCERAL, 5, AUTOSOMAL | ClinVar Annotator: match by term: Heterotaxy, visceral, 5 | ClinVar Annotator: match by term: Heterotaxy, visceral, 5, autosomal | ClinVar Annotator: match by term: NODAL-related condition | ClinVar Annotator: match by term: NODAL-related disorders | ClinVar Annotator: match by term: Situs inversus | ClinVar Annotator: match by term: Visceral heterotaxy 5, autosomal	PMID:16199547|PMID:17576681|PMID:19064609|PMID:19553149|PMID:19933292|PMID:24033266|PMID:25741868|PMID:26121141|PMID:28492532|PMID:29368431|PMID:30293987|PMID:31019026|PMID:31570783|PMID:37644014|PMID:37853563|PMID:38570875|PMID:9536098
12150839	NODAL	nodal growth differentiation factor	gene	DOID:769	neuroblastoma		ISO	RGD:1314354	D	RGD:9068941	20220922	RGD		mRNA:increased expression:neural tissue (human)	PMID:30985990|REF_RGD_ID:155226876
12150839	NODAL	nodal growth differentiation factor	gene	DOID:9002116	Congenitally Corrected Transposition of the Great Arteries		ISO	RGD:1314354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenitally corrected transposition of the great arteries	PMID:19064609|PMID:19933292|PMID:25741868|PMID:28492532|PMID:31570783|PMID:37644014
12150839	NODAL	nodal growth differentiation factor	gene	DOID:9007098	Pulmonary Atresia	susceptibility	ISO	RGD:1314354	D	RGD:9068941	20220922	RGD		DNA:mutations	PMID:19064609|REF_RGD_ID:11568370
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:1909	melanoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12150845	HACD2	3-hydroxyacyl-CoA dehydratase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314901	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150857	PGLS	6-phosphogluconolactonase	gene	DOID:11476	osteoporosis		ISO	RGD:1315936	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12150857	PGLS	6-phosphogluconolactonase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12150857	PGLS	6-phosphogluconolactonase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150857	PGLS	6-phosphogluconolactonase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315936	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34606182|PMID:34646395|PMID:34653963|PMID:35039564|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:26628246|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31403082|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34270679|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Cerebello-oculocutaneous telangiectasia	PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36790564|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17923702|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19763152|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20054297|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21732128|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24120057|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24584352|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24726177|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26225655|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677030|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27581129|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27659017|PMID:27664052|PMID:27692705|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28687356|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30709382|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31319225|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31428572
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32558426|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32655291|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34387910|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35008949|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35076389|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35218119|PMID:35221880|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36161273|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36790564|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37009283|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:37656691|PMID:37930190|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38313678|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:39636577|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25326637|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28188106|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31882575|PMID:31920950|PMID:31921681|PMID:32039725|PMID:32125938|PMID:32183364|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32860008|PMID:32906206|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9792409|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25318351|PMID:25452441|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30814645|PMID:31050087|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33747920|PMID:33919281|PMID:34067464|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34359559
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29335925|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35264596|PMID:35365198|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14627829|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35763645|PMID:36315919|PMID:36704080|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28608266|PMID:28652578|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35708139|PMID:35734982|PMID:35763645|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27443514|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, somatic | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:10330348|PMID:10397742|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14627829|PMID:14628072|PMID:14754616|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15843990|PMID:15880721|PMID:16140923|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18066086|PMID:18497957|PMID:18504682|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:20077034|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21346221|PMID:21445571|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585524|PMID:23640770|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24951259|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25503501|PMID:25523272|PMID:25525159|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25925381|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26053404|PMID:26094658|PMID:26270727|PMID:26296696|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26693373|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28338653|PMID:28492532|PMID:28495237|PMID:28608266|PMID:28652578|PMID:28724467|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28873162|PMID:28888541|PMID:29058119|PMID:29335925|PMID:29356034|PMID:29368341|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29625052|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30287823|PMID:30303537|PMID:30339652|PMID:30363071|PMID:30426508|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30772474|PMID:30814645|PMID:31050087|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31216378|PMID:31263571|PMID:31285527|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31882575|PMID:31920950|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:36091166|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37091313|PMID:37262986|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:1612	breast cancer		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast cancer, early-onset | ClinVar Annotator: match by term: Breast cancer, susceptibility to | ClinVar Annotator: match by term: Malignant breast neoplasm | ClinVar Annotator: match by term: Malignant tumor of breast	PMID:32068069|PMID:32091409|PMID:32125938|PMID:32183364|PMID:32283892|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32754152|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33558524|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34262154|PMID:34299313|PMID:34326862|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34573280|PMID:34606182|PMID:34653963|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35095854|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:36091166|PMID:36094610|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36703223|PMID:36704080|PMID:36845387|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:38147532|PMID:38489015|PMID:38854973|PMID:4012663|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9792409|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Familial ovarian cancer	PMID:10330348|PMID:11756185|PMID:12552559|PMID:17576681|PMID:21933854|PMID:22585167|PMID:23807571|PMID:25032865|PMID:25326635|PMID:25503501|PMID:25614872|PMID:25741868|PMID:26094658|PMID:26270727|PMID:26467025|PMID:26681312|PMID:28007021|PMID:28008555|PMID:28492532|PMID:30322717|PMID:30549301|PMID:31050087|PMID:8659541|PMID:9463314|PMID:9536098|PMID:9872980
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:3275	thymoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1603171	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24451234|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33630411|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32853339|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10464642|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25040471|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30851086|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31447099|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32853339|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:20232390|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:25117502|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27978560|PMID:27989354|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:35039564|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9764584|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14586414|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30549301|PMID:30613976|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31285527|PMID:31447099|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35245693|PMID:35264596|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:34117267|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34646395|PMID:34755017|PMID:35039564
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:35047863|PMID:35245693|PMID:35264596|PMID:35708139|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36568162|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20840352|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22234840|PMID:22250480|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24556621|PMID:24728327|PMID:24733792|PMID:25040471|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25374739|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25938944|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28008555|PMID:28093192|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30541756|PMID:30549301|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30851086|PMID:30982232|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34337741|PMID:34646395|PMID:34680878|PMID:34755017|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35245693|PMID:35264596|PMID:35312250|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30197789|PMID:30256826|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:31050087|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36200007|PMID:36243179|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36988593|PMID:37091313|PMID:38017116|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31285527|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32875559|PMID:32885271|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34646395|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25326637|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BRCA1-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: BRCA2-related cancer predisposition | ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 3 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 4 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38854973|PMID:39085400|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10425038|PMID:10738255|PMID:10817650|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756185|PMID:11805335|PMID:11830610|PMID:11849780|PMID:12072552|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12883528|PMID:12917204|PMID:12969974|PMID:14562025|PMID:14586414|PMID:14628072|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16167060|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17166884|PMID:17333338|PMID:17344846|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17910737|PMID:17968022|PMID:18384426|PMID:1849795|PMID:18497957|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20840352|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22995991|PMID:23091097|PMID:23143971|PMID:23322442|PMID:23454770|PMID:23555315|PMID:23585524|PMID:23632773|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24556621|PMID:24628946|PMID:24728327|PMID:24733792|PMID:24853695|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25326635|PMID:25374739|PMID:25452441|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25914063|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26053404|PMID:26094658|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26247737|PMID:26270727|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26837699|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27142713|PMID:27153395|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27528516|PMID:27595995|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28492532|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28625278|PMID:28652578|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28888541|PMID:28975465|PMID:29036293|PMID:29360161|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29522266|PMID:29555025|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1603171	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Breast and/or ovarian cancer | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 5 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome | ClinVar Annotator: match by term: Inherited breast cancer and ovarian cancer	PMID:29958926|PMID:30067863|PMID:30093976|PMID:30128536|PMID:30197789|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30413523|PMID:30447919|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30651582|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30851086|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31125277|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31285527|PMID:31407689|PMID:31422574|PMID:31447099|PMID:31611883|PMID:31742824|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31948886|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32113160|PMID:32125938|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32427313|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32658311|PMID:32748564|PMID:32756499|PMID:32782288|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32980694|PMID:32986223|PMID:33050356|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33330270|PMID:3338800|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33804961|PMID:33850299|PMID:33919281|PMID:34117267|PMID:34130653|PMID:34199532|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34680878|PMID:34755017|PMID:34761457|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35264596|PMID:35273153|PMID:35312250|PMID:35354106|PMID:35358259|PMID:35365198|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36029002|PMID:36094610|PMID:36099812|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36521553|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36703223|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37529773|PMID:38017116|PMID:38028594|PMID:38118367|PMID:38136308|PMID:38313678|PMID:38489015|PMID:38496821|PMID:38673061|PMID:38734904|PMID:38854973|PMID:38896321|PMID:38917355|PMID:39085400|PMID:39122510|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9043869|PMID:9150358|PMID:9259193|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9536098|PMID:9537233|PMID:9764584|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603171	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15159313|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:21665257|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24451234|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28188106|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32107087|PMID:32125938|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33558524|PMID:33630411|PMID:33747920|PMID:33850299|PMID:34299313|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22895193|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25232094|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30723761|PMID:30730459|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31407689|PMID:31447099|PMID:31465090|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29888287|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31742824|PMID:31780696|PMID:31784493|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33471991|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:34371384|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35201558|PMID:35260754|PMID:35309086|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33919281|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250417|PMID:34262154|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35806449|PMID:35892882|PMID:35893033|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:33134171|PMID:33163394|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36988593|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14643952|PMID:14654357|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35666082|PMID:35710434|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31407689|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35710434|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36315919|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:10023947|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32295079|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32756499|PMID:32772458|PMID:32782288|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:35039564|PMID:35047863|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35980532|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36568162|PMID:36704080|PMID:36988593|PMID:37262986|PMID:37438524|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12958068|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16140923|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17389389|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18066086|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22369572|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23836671|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24405665|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24549055|PMID:24556621|PMID:24628946|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25741916|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29485843|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:38017116|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:2675381|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27304073|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27692705|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29081736|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29263802|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29489040|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29559559|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29659569|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29888287|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30836094|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31352369|PMID:31382929|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31731261|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37438524|PMID:37445923|PMID:37529773|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603171	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32994724|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33332384|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33850299|PMID:33858029|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34350294|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34570441|PMID:34573280|PMID:34582042|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34949663|PMID:34954471|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35201558|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35273153|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35534704|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36029002|PMID:36091166|PMID:36119527|PMID:36200007|PMID:36243179|PMID:36315513|PMID:36315919|PMID:36446039|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36627197|PMID:36672847|PMID:36704080|PMID:36898365|PMID:36988593|PMID:37009283|PMID:37091313|PMID:37262986|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37450374|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38003901|PMID:38017116|PMID:38028594|PMID:38355628|PMID:38509102|PMID:4012663|PMID:581456|PMID:622825|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1603171	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Breast neoplasm | ClinVar Annotator: match by term: Breast tumor	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12195425|PMID:12552559|PMID:16958054|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22649200|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25741868|PMID:25980754|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32853339|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9443866|PMID:9463314|PMID:9537233
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36898365|PMID:36988593|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:100011|PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10571946|PMID:1065243|PMID:10706620|PMID:10738255|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11897822|PMID:12072552|PMID:12072877|PMID:12091354|PMID:12149228|PMID:12195425|PMID:12400598|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12646636|PMID:12655570|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14628072|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14706517|PMID:14970866|PMID:15039971|PMID:15101044|PMID:15174027|PMID:15196260|PMID:15279808|PMID:15390180|PMID:15450731|PMID:15696190|PMID:15756685|PMID:15843990|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16158199|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:16380133|PMID:16461462|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:17001622|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17298726|PMID:17333338|PMID:17344846|PMID:17376192|PMID:17393301|PMID:17517479|PMID:17540590|PMID:17576681|PMID:17600866|PMID:17623063|PMID:17640065|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:1849795|PMID:18497957|PMID:18504682|PMID:18560558|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18807267|PMID:18813293|PMID:19018867|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19650357|PMID:19691550|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20077034|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20346647|PMID:20480175|PMID:20840352|PMID:20945614|PMID:20966255|PMID:21150274|PMID:21346221|PMID:21354641|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22109722|PMID:22146522|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22420423|PMID:22529920|PMID:22585167|PMID:22649200|PMID:22674506|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22952040|PMID:22995991|PMID:23091097|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23532176|PMID:23555315|PMID:23585368|PMID:23585524|PMID:23632773|PMID:23640770|PMID:23667852|PMID:23671275|PMID:23774824|PMID:23807571|PMID:23946315|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24172824|PMID:24326041|PMID:24356096|PMID:24416720|PMID:24448499|PMID:24506781|PMID:24556621|PMID:24584352|PMID:24643969|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24853695|PMID:24920063|PMID:24951259|PMID:24970356|PMID:24983367|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25085752|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25182519|PMID:25186627|PMID:25186949|PMID:25249249|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25586381|PMID:25587027|PMID:25614872|PMID:25625042|PMID:25741868|PMID:25742471|PMID:25793145|PMID:25877891|PMID:25914063|PMID:25957637|PMID:25980754|PMID:26010451|PMID:26022348|PMID:26053404|PMID:26094658|PMID:26098866|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26344566|PMID:26380989
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32676327|PMID:32694154
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38509102|PMID:38854973|PMID:39085400|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26530882|PMID:26534844|PMID:26536348|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26662178|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27066513|PMID:27067391|PMID:27083775|PMID:27097373|PMID:27121310|PMID:27142713|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27479817|PMID:27498913|PMID:27528516|PMID:27534895|PMID:27595995|PMID:27602502|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27714650|PMID:27720647|PMID:27732944|PMID:27798748|PMID:27854218|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27913932|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28120234|PMID:28125075|PMID:28126470|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28195393|PMID:28259476|PMID:28338653|PMID:28423363|PMID:28486781|PMID:28492532|PMID:28495237|PMID:28503720|PMID:28508083|PMID:28569743|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28652578|PMID:28691344|PMID:28716242|PMID:28717660|PMID:28724467|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28888541|PMID:28898322|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29141312|PMID:29155101|PMID:29163336|PMID:29317520|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29445900|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29664460|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29758562|PMID:29785153|PMID:29905759|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30082870|PMID:30086788|PMID:30093976|PMID:30113886|PMID:30128536|PMID:30154229|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30253992|PMID:30256826|PMID:30267214|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30413523|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30482293|PMID:30504431|PMID:30541756|PMID:30549301|PMID:30579816|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30697212|PMID:30713859|PMID:30723761|PMID:30772474|PMID:30814645|PMID:30819809|PMID:30850667|PMID:30851086|PMID:30883245|PMID:30927251|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31054420|PMID:31056428|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173646|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31422574|PMID:31429931|PMID:31447099|PMID:31465090|PMID:31611883|PMID:31617914|PMID:31691010|PMID:31740029|PMID:31741144|PMID:31742824|PMID:31754145|PMID:31780696|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31854063|PMID:31871109|PMID:31882575|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31948886|PMID:31966388|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32039725|PMID:32068069|PMID:32091409|PMID:32095276|PMID:32107087|PMID:32113160|PMID:32125938|PMID:32133419|PMID:32165095|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365798|PMID:32365829|PMID:32366930|PMID:32383811|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32522261|PMID:32548172|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603171	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:32772458|PMID:32782288|PMID:32792570|PMID:32810930|PMID:32818697|PMID:32830346|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866655|PMID:32868316|PMID:32875559|PMID:32885271|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32957588|PMID:32963463|PMID:32980694|PMID:32986223|PMID:32999401|PMID:33011440|PMID:33048355|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33119476|PMID:33128190|PMID:33134171|PMID:33163394|PMID:33239428|PMID:33280026|PMID:33309985|PMID:33330270|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33402103|PMID:33421217|PMID:33436325|PMID:33439686|PMID:33442023|PMID:33471991|PMID:33502066|PMID:33509806|PMID:33547824|PMID:33551102|PMID:33552952|PMID:33558524|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33804961|PMID:33850299|PMID:33858029|PMID:33916788|PMID:33919281|PMID:33939675|PMID:34067464|PMID:34117267|PMID:34130653|PMID:34196900|PMID:34199532|PMID:34204722|PMID:34247626|PMID:34250389|PMID:34250417|PMID:34262154|PMID:34271781|PMID:34284872|PMID:34298181|PMID:34299313|PMID:34326862|PMID:34337741|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34426522|PMID:34445196|PMID:34477998|PMID:34567246|PMID:34570441|PMID:34573280|PMID:34600502|PMID:34602955|PMID:34606182|PMID:34628594|PMID:34646395|PMID:34653963|PMID:34663476|PMID:34680501|PMID:34680878|PMID:34718612|PMID:34755017|PMID:34759960|PMID:34761457|PMID:34771661|PMID:34848827|PMID:34873480|PMID:34887416|PMID:34949663|PMID:34954471|PMID:35017683|PMID:35029067|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35095854|PMID:35127508|PMID:35146455|PMID:35154108|PMID:35171259|PMID:35181726|PMID:35186721|PMID:35218119|PMID:35245693|PMID:35260754|PMID:35264596|PMID:35309086|PMID:35312250|PMID:35353237|PMID:35354106|PMID:35365198|PMID:35402282|PMID:35451682|PMID:35467778|PMID:35495172|PMID:35534218|PMID:35534704|PMID:35585550|PMID:35666082|PMID:35708139|PMID:35710434|PMID:35716007|PMID:35734982|PMID:35763645|PMID:35806449|PMID:35884425|PMID:35886069|PMID:35892882|PMID:35893033|PMID:35957908|PMID:35980532|PMID:36018153|PMID:36029002|PMID:36091166|PMID:36094610|PMID:36099812|PMID:36119527|PMID:36243179|PMID:36315919|PMID:36446039|PMID:36451132|PMID:36521553|PMID:36531003|PMID:36555667|PMID:36568162|PMID:36577833|PMID:36627197|PMID:36672847|PMID:36703223|PMID:36704080|PMID:36781323|PMID:36845387|PMID:36896836|PMID:36898365|PMID:36983044|PMID:36988593|PMID:37013556|PMID:37091313|PMID:37201465|PMID:37262986|PMID:37306523|PMID:37331604|PMID:37438524|PMID:37445923|PMID:37529773|PMID:37581139|PMID:37628581|PMID:38017116|PMID:38028594|PMID:38136308|PMID:38147532|PMID:38355628|PMID:38489015|PMID:38496821|PMID:38509102|PMID:38570878|PMID:38854973|PMID:39085400|PMID:39226054|PMID:4012663|PMID:581456|PMID:6504056|PMID:7792600|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755819|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:988733|PMID:9887333|PMID:9892178
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:11093010	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 10	PMID:25741868|PMID:25980754|PMID:28492532|PMID:33471991
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:12898667	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:17968022|PMID:25741868|PMID:28492532
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9009054	Colorectal Cancer 10		ISO	RGD:9851325	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer type X	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28779002|PMID:30287823
12150866	C5H11orf65	chromosome 5 C11orf65 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1603171	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:10330348|PMID:10817650|PMID:10980530|PMID:12646636|PMID:15039971|PMID:16266405|PMID:21665257|PMID:21833744|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26681312|PMID:27433846|PMID:28492532|PMID:29360161|PMID:30067863|PMID:31159747|PMID:32295079|PMID:9443866|PMID:9887333
12150892	MIS12	MIS12 kinetochore complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150892	MIS12	MIS12 kinetochore complex component	gene	DOID:4362	cervical cancer		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150892	MIS12	MIS12 kinetochore complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150892	MIS12	MIS12 kinetochore complex component	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0070168	spermatogenic failure 3		ISO	RGD:1322630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-obstructive azoospermia	PMID:25741868|PMID:28492532
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0111920	spermatogenic failure 25		ISO	RGD:1322630	D	RGD:7240710	20190315	OMIM			
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0111920	spermatogenic failure 25		ISO	RGD:1322630	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 25 | ClinVar Annotator: match by term: Spermatogenic failure 25 | ClinVar Annotator: match by term: TEX15-related condition	PMID:25741868|PMID:26199321|PMID:28492532
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1322630	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:14228	oligospermia		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligozoospermia	PMID:25741868
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:2661	myoepithelioma		ISO	RGD:1322630	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:9003436	CRYPTOZOOSPERMIA		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptozoospermia	PMID:25741868
12150918	TEX15	testis expressed 15, meiosis and synapsis associated	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1322630	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:733956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:733956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Isolated hypogonadotropic hypogonadism	PMID:23533228|PMID:25741868
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia		ISO	RGD:733956	D	RGD:7240710	20190904	OMIM			
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0090086	hypogonadotropic hypogonadism 6 with or without anosmia		ISO	RGD:733956	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: FGF8-related condition | ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 6 with or without anosmia	PMID:17360555|PMID:21832120|PMID:22399515|PMID:23533228|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:28492532|PMID:29584859
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0110881	holoprosencephaly 1		ISO	RGD:733956	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cyclopia | ClinVar Annotator: match by term: Holoprosencephaly 1	PMID:18596921|PMID:28492532
12150944	FGF8	fibroblast growth factor 8	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:733956	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
12150944	FGF8	fibroblast growth factor 8	gene	DOID:10629	microphthalmia		ISO	RGD:733956	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: therapeutic	PMID:32472575
12150944	FGF8	fibroblast growth factor 8	gene	DOID:10892	hypospadias		ISO	RGD:70891	D	RGD:9068941	20200609	RGD			PMID:19464577|REF_RGD_ID:2314151
12150944	FGF8	fibroblast growth factor 8	gene	DOID:10907	microcephaly		ISO	RGD:733956	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12150944	FGF8	fibroblast growth factor 8	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate	PMID:10343609|REF_RGD_ID:2289343
12150944	FGF8	fibroblast growth factor 8	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1553752	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16399080
12150944	FGF8	fibroblast growth factor 8	gene	DOID:1612	breast cancer		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast epithelium:significant increase in both the number of tumors expressing FGF8 (p=0.019) and the absolute expression level (p=0.031)	PMID:10023681|REF_RGD_ID:2289344
12150944	FGF8	fibroblast growth factor 8	gene	DOID:1911	endodermal sinus tumor		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		protein:increased expression:testicular germ cell neoplasms	PMID:11764380|REF_RGD_ID:2289339
12150944	FGF8	fibroblast growth factor 8	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:733956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868
12150944	FGF8	fibroblast growth factor 8	gene	DOID:1924	hypogonadism		ISO	RGD:733956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868|PMID:28492532
12150944	FGF8	fibroblast growth factor 8	gene	DOID:3308	embryonal carcinoma		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		protein:increased expression:testicular germ cell neoplasms	PMID:11764380|REF_RGD_ID:2289339
12150944	FGF8	fibroblast growth factor 8	gene	DOID:3594	choriocarcinoma		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		protein:increased expression:testicular germ cell neoplasms	PMID:11764380|REF_RGD_ID:2289339
12150944	FGF8	fibroblast growth factor 8	gene	DOID:3614	Kallmann syndrome		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:4362	cervical cancer		ISO	RGD:733956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:4621	holoprosencephaly		ISO	RGD:733956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEMYER SEQUENCE | ClinVar Annotator: match by term: Holoprosencephaly sequence | ClinVar Annotator: match by term: holoprosencephaly | ClinVar Annotator: match by term: semilobar holoprosencephaly	PMID:18596921|PMID:22399515|PMID:25131394|PMID:25741868|PMID:26467025|PMID:26857713|PMID:26931467|PMID:27363716|PMID:28492532|PMID:29584859
12150944	FGF8	fibroblast growth factor 8	gene	DOID:630	genetic disease		ISO	RGD:733956	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12150944	FGF8	fibroblast growth factor 8	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:1553752	D	RGD:9068941	20220825	MouseDO		OMIM:187500	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:674	cleft palate		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
12150944	FGF8	fibroblast growth factor 8	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:733956	D	RGD:9068941	20200609	RGD			PMID:12208767|REF_RGD_ID:2301097
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9001239	Delayed Puberty		ISO	RGD:733956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25741868|PMID:28492532
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9001460	22q11 Deletion Syndrome		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12223415
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:prostate:isoforms FGF8a and FGF8e	PMID:11406643|REF_RGD_ID:2289340
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:733956	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate:expression negatively correlated with Gleason grade (p = 0.02)	PMID:10343609|REF_RGD_ID:2289343
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:733956	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate:expression of isoform FGF8b significantly associated with both stage (P=0.0004) and grade (P<0.0001)	PMID:12778074|REF_RGD_ID:2289338
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:70891	D	RGD:9068941	20200609	RGD			PMID:18699993|REF_RGD_ID:2314157
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16720880
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:733956	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:ovary	PMID:11072239|REF_RGD_ID:2289342
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1553752	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Experimental	PMID:9840935|REF_RGD_ID:2301098
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1553752	D	RGD:9068941	20200609	RGD			PMID:9840935|REF_RGD_ID:2301098
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16720880
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733956	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9296	cleft lip		ISO	RGD:733956	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17963255
12150944	FGF8	fibroblast growth factor 8	gene	DOID:9970	obesity		ISO	RGD:733956	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868|PMID:28492532
12150945	DDHD2	DDHD domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:0061280	Senior-Loken syndrome 6		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Senior-Loken syndrome 6	PMID:25741868
12150945	DDHD2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:7240710	20180130	OMIM			
12150945	DDHD2	DDHD domain containing 2	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1318138	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 54 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 54, autosomal recessive	PMID:16199547|PMID:17576681|PMID:23176823|PMID:23486545|PMID:24482476|PMID:25741868|PMID:28492532|PMID:31271950|PMID:31302745|PMID:32488064|PMID:9536098
12150945	DDHD2	DDHD domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:1909	melanoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1318138	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12150945	DDHD2	DDHD domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1318138	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:5419	schizophrenia		ISO	RGD:1318138	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:33462483
12150945	DDHD2	DDHD domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12150945	DDHD2	DDHD domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12150945	DDHD2	DDHD domain containing 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318138	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12150972	TMX2	thioredoxin related transmembrane protein 2	gene	DOID:9006716	Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity		ISO	RGD:1603042	D	RGD:7240710	20200226	OMIM			
12150984	CTSH	cathepsin H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12150984	CTSH	cathepsin H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12150984	CTSH	cathepsin H	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:2447	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney proximal tubule	PMID:8840269|REF_RGD_ID:5686402
12150984	CTSH	cathepsin H	gene	DOID:10534	stomach cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12150984	CTSH	cathepsin H	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12150984	CTSH	cathepsin H	gene	DOID:12858	Huntington's disease		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:caudate nucleus	PMID:7561949|REF_RGD_ID:5686393
12150984	CTSH	cathepsin H	gene	DOID:1909	melanoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150984	CTSH	cathepsin H	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12150984	CTSH	cathepsin H	gene	DOID:2377	multiple sclerosis		ISO	RGD:10423	D	RGD:9068941	20200609	RGD			PMID:17086443|REF_RGD_ID:5686392
12150984	CTSH	cathepsin H	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:urinary bladder	PMID:15183956|REF_RGD_ID:2315615
12150984	CTSH	cathepsin H	gene	DOID:3068	glioblastoma		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:8640738|REF_RGD_ID:1549417
12150984	CTSH	cathepsin H	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10423	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:spinal cord	PMID:17583678|REF_RGD_ID:5686391
12150984	CTSH	cathepsin H	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12150984	CTSH	cathepsin H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12150984	CTSH	cathepsin H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150984	CTSH	cathepsin H	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:735454	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:12589965|REF_RGD_ID:5686394
12150984	CTSH	cathepsin H	gene	DOID:9005166	Contusions		ISO	RGD:2447	D	RGD:9068941	20211224	RGD		mRNA:increased expression:gastrocnemius (rat)	PMID:11788364|REF_RGD_ID:631244
12150984	CTSH	cathepsin H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150984	CTSH	cathepsin H	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:2447	D	RGD:9068941	20200609	RGD			PMID:17027151|REF_RGD_ID:2306498
12150984	CTSH	cathepsin H	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12150984	CTSH	cathepsin H	gene	DOID:9256	colorectal cancer		ISO	RGD:735454	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12150984	CTSH	cathepsin H	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735454	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18978792
12150998	BCO2	beta-carotene oxygenase 2	gene	DOID:1909	melanoma		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12150998	BCO2	beta-carotene oxygenase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12150998	BCO2	beta-carotene oxygenase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12150998	BCO2	beta-carotene oxygenase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12150998	BCO2	beta-carotene oxygenase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151042	CACYBP	calcyclin binding protein	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:1346732	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:18765951|REF_RGD_ID:2326146
12151042	CACYBP	calcyclin binding protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151042	CACYBP	calcyclin binding protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151042	CACYBP	calcyclin binding protein	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12151042	CACYBP	calcyclin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151042	CACYBP	calcyclin binding protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1303146	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:16440310|REF_RGD_ID:2326117
12151042	CACYBP	calcyclin binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151042	CACYBP	calcyclin binding protein	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1346732	D	RGD:9068941	20200609	RGD		associated with pancreatic neoplasms	PMID:18765951|REF_RGD_ID:2326146
12151042	CACYBP	calcyclin binding protein	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1346732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12151058	SAV1	salvador family WW domain containing protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12151058	SAV1	salvador family WW domain containing protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316338	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151058	SAV1	salvador family WW domain containing protein 1	gene	DOID:5353	colonic disease		ISO	RGD:1316339	D	RGD:9068941	20220825	MouseDO			
12151058	SAV1	salvador family WW domain containing protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316339	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
12151058	SAV1	salvador family WW domain containing protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151067	MED1	mediator complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151067	MED1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12151067	MED1	mediator complex subunit 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351174	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12151067	MED1	mediator complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1351174	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12151067	MED1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1617613	D	RGD:9068941	20200609	RGD			PMID:27548259|REF_RGD_ID:13513972
12151067	MED1	mediator complex subunit 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1617613	D	RGD:9068941	20220825	MouseDO			
12151067	MED1	mediator complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151067	MED1	mediator complex subunit 1	gene	DOID:289	endometriosis		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12151067	MED1	mediator complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151067	MED1	mediator complex subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12151067	MED1	mediator complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151067	MED1	mediator complex subunit 1	gene	DOID:6000	congestive heart failure		ISO	RGD:1617613	D	RGD:9068941	20220825	MouseDO			
12151067	MED1	mediator complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20007298
12151067	MED1	mediator complex subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151067	MED1	mediator complex subunit 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1351174	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16109766
12151067	MED1	mediator complex subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351174	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:1115	sarcoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:1909	melanoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:4362	cervical cancer		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:5041	esophageal cancer		ISO	RGD:1316047	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316047	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151092	ATP10D	ATPase phospholipid transporting 10D (putative)	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1352791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11062482
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1617601	D	RGD:9068941	20200609	RGD			PMID:20641036|REF_RGD_ID:11561895
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:1682	congenital heart disease		ISO	RGD:1352791	D	RGD:9068941	20200609	RGD		DNA:mutations:3'UTR,exons:	PMID:19853938|REF_RGD_ID:11561893
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:219	colon cancer	treatment	ISO	RGD:1352791	D	RGD:9068941	20200609	RGD			PMID:15173016|REF_RGD_ID:11561894
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:2394	ovarian cancer		ISO	RGD:1352791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:3307	teratoma	treatment	ISO	RGD:1617601	D	RGD:9068941	20200609	RGD			PMID:20641036|REF_RGD_ID:11561895
12151134	CRIPTO	cripto, EGF-CFC family member	gene	DOID:4621	holoprosencephaly		ISO	RGD:1352791	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12073012
12151145	KCNF1	potassium voltage-gated channel modifier subfamily F member 1	gene	DOID:10283	prostate cancer		ISO	RGD:735852	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12151145	KCNF1	potassium voltage-gated channel modifier subfamily F member 1	gene	DOID:10283	prostate cancer		ISO	RGD:735852	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0080419	developmental and epileptic encephalopathy 50		ISO	RGD:1348167	D	RGD:7240710	20180130	OMIM			
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0080419	developmental and epileptic encephalopathy 50		ISO	RGD:1348167	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CAD-related condition | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 50 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 50 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 50	PMID:16199547|PMID:17576681|PMID:25678555|PMID:25741868|PMID:28007989|PMID:28492532|PMID:32117025|PMID:32461667|PMID:32820246|PMID:33497533|PMID:36283272|PMID:37540500|PMID:39447673|PMID:9536098
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Infantile epileptic dyskinetic encephalopathy	PMID:25741868|PMID:28492532|PMID:32461667|PMID:32820246|PMID:32960281|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:0080916	erythroleukemia		ISO	RGD:1348167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1059	intellectual disability		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:10923	sickle cell anemia		ISO	RGD:1348167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1115	sarcoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:12241	beta thalassemia		ISO	RGD:1348167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:12971	hereditary spherocytosis		ISO	RGD:1348167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1324	lung cancer		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1348167	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:38827
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1826	epilepsy		ISO	RGD:1348167	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Seizure disorder	PMID:25741868
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1827	generalized epilepsy		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:1909	melanoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:2394	ovarian cancer		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:1588606	D	RGD:9068941	20211119	RGD			PMID:7053379|REF_RGD_ID:10755426
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:4362	cervical cancer		ISO	RGD:1348167	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1588606	D	RGD:9068941	20211119	RGD			PMID:7053379|REF_RGD_ID:10755426
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:630	genetic disease		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1588606	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (rat)	PMID:2914957|REF_RGD_ID:5132587
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1588606	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:2888462|REF_RGD_ID:2303530
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1588606	D	RGD:9068941	20211119	RGD			PMID:7053379|REF_RGD_ID:10755426
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1588606	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:13618893|REF_RGD_ID:5132586
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9002079	Paresis		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemiparesis	PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1588606	D	RGD:9068941	20200609	RGD			PMID:3973436|REF_RGD_ID:2303532
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9002374	Coronary Artery Disease, Autosomal Dominant 2		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronary artery disease, autosomal dominant 2	PMID:25741868
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1588606	D	RGD:9068941	20211119	RGD			PMID:7053379|REF_RGD_ID:10755426
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9005233	Experimental Mammary Neoplasms	disease_progression	ISO	RGD:1588606	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:6030068|REF_RGD_ID:2303540
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1588606	D	RGD:9068941	20200609	RGD		protein:decreased activity:mammary gland (rat)	PMID:1476792|REF_RGD_ID:5132591
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9006202	Pruritus		ISO	RGD:1348167	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:28492532|PMID:32820246|PMID:33497533|PMID:37540500
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151150	CAD	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	gene	DOID:9849	Meniere's disease		ISO	RGD:1348167	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meniere disease	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:2843	long QT syndrome		ISO	RGD:1315830	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:3070	high grade glioma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:3275	thymoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:5041	esophageal cancer		ISO	RGD:1315830	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1315830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22024689
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:9003566	Mesothelioma		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12151211	BCL9	BCL9 transcription coactivator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315830	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:303	substance-related disorder		ISO	RGD:1605868	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1605868	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1605868	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151240	LDLRAD3	low density lipoprotein receptor class A domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151256	MC5R	melanocortin 5 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3058	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
12151262	PDE12	phosphodiesterase 12	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1606683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055709
12151262	PDE12	phosphodiesterase 12	gene	DOID:1324	lung cancer		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151262	PDE12	phosphodiesterase 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12151262	PDE12	phosphodiesterase 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12151262	PDE12	phosphodiesterase 12	gene	DOID:9004531	Cardiovirus Infections		ISO	RGD:1606683	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26055709
12151262	PDE12	phosphodiesterase 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151262	PDE12	phosphodiesterase 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606683	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151272	PLA2G2D	phospholipase A2 group IID	gene	DOID:1909	melanoma		ISO	RGD:1320432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151272	PLA2G2D	phospholipase A2 group IID	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151278	SIK1	salt inducible kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:0080465	developmental and epileptic encephalopathy 30		ISO	RGD:69451	D	RGD:7240710	20180130	OMIM			
12151278	SIK1	salt inducible kinase 1	gene	DOID:0080465	developmental and epileptic encephalopathy 30		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 30 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 30 | ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 30	PMID:16199547|PMID:17576681|PMID:25741868|PMID:25839329|PMID:26467025|PMID:27966542|PMID:28106320|PMID:28492532|PMID:31780880|PMID:9536098
12151278	SIK1	salt inducible kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151278	SIK1	salt inducible kinase 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16243910
12151278	SIK1	salt inducible kinase 1	gene	DOID:1826	epilepsy		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:69451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12151278	SIK1	salt inducible kinase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:3275	thymoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12151278	SIK1	salt inducible kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151278	SIK1	salt inducible kinase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:630	genetic disease		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15511237|PMID:25741868|PMID:26467025|PMID:26567857|PMID:28106320|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:69451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12151278	SIK1	salt inducible kinase 1	gene	DOID:9001959	Cold Injury		ISO	RGD:69407	D	RGD:9068941	20240404	RGD		mRNA:increased expression:soleus (rat)	PMID:27765842|REF_RGD_ID:405101694
12151278	SIK1	salt inducible kinase 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
12151278	SIK1	salt inducible kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151278	SIK1	salt inducible kinase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12151278	SIK1	salt inducible kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151278	SIK1	salt inducible kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:69451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:26467025|PMID:28492532
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:1909	melanoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:3275	thymoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151296	SORCS2	sortilin related VPS10 domain containing receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151327	SCRN2	secernin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151327	SCRN2	secernin 2	gene	DOID:1115	sarcoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151327	SCRN2	secernin 2	gene	DOID:1324	lung cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151327	SCRN2	secernin 2	gene	DOID:3275	thymoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151327	SCRN2	secernin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151327	SCRN2	secernin 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151327	SCRN2	secernin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151327	SCRN2	secernin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151327	SCRN2	secernin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317110	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:0050631	Allan-Herndon-Dudley syndrome		ISO	RGD:737451	D	RGD:7240710	20180130	OMIM			
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:0050631	Allan-Herndon-Dudley syndrome		ISO	RGD:737451	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALLAN-HERNDON-DUDLEY SYNDROME | ClinVar Annotator: match by term: Allan-Herndon-Dudley syndrome | ClinVar Annotator: match by term: MCT8 (SLC16A2)-Specific Thyroid Hormone Cell Transporter Deficiency | ClinVar Annotator: match by term: SLC16A2-related condition	PMID:15488219|PMID:15889350|PMID:16417886|PMID:17356046|PMID:18187543|PMID:18398436|PMID:18414213|PMID:20083155|PMID:20301789|PMID:25160547|PMID:25527620|PMID:25741868|PMID:27081503|PMID:28492532|PMID:28742507|PMID:30369548|PMID:31690835|PMID:32277047|PMID:32559475|PMID:33141165|PMID:33847015|PMID:35782622|PMID:37925810|PMID:38345890|PMID:40369875|PMID:40420837
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24781735
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:0111162	epidermal nevus		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus sebaceous	PMID:21835051|PMID:27805744|PMID:28492532
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:10283	prostate cancer		ISO	RGD:737451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:10283	prostate cancer		ISO	RGD:737451	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:1059	intellectual disability		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:20083155|PMID:25167861|PMID:25527620|PMID:25741868|PMID:28492532|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:10907	microcephaly		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:1115	sarcoma		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:12849	autistic disorder		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:13580	cholestasis		ISO	RGD:737451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:1459	hypothyroidism		ISO	RGD:737451	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31121238
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:1826	epilepsy		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:30369548|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:1969	cerebral palsy		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532|PMID:28832565
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:543	dystonia		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:607	paraplegia		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:15889350|PMID:15980113|PMID:16199547|PMID:17576681|PMID:17899191|PMID:18187543|PMID:18398436|PMID:19648159|PMID:19936787|PMID:20083155|PMID:23744248|PMID:25222753|PMID:25527620|PMID:25741868|PMID:27977298|PMID:28492532|PMID:30369548|PMID:31410843|PMID:32559475|PMID:32603881|PMID:9536098
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:630	genetic disease		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15980113|PMID:19194886|PMID:23568789|PMID:25644381|PMID:25741868|PMID:28492532
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9002033	Knobloch Syndrome		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Passos-Bueno syndrome	PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:30369548
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:16974106|PMID:20083155|PMID:25527620|PMID:25741868|PMID:28492532|PMID:32559475
12151343	SLC16A2	solute carrier family 16 member 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30369548
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:0050742	nicotine dependence		ISO	RGD:731040	D	RGD:9068941	20240201	RGD		mRNA:increased expression:blood (human)	PMID:22846875|REF_RGD_ID:401960066
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:independent of level of somnolence or obesity	PMID:15627867|REF_RGD_ID:1600936
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:0060001	withdrawal disorder		ISO	RGD:731040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20738730
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:0060001	withdrawal disorder	severity	ISO	RGD:731040	D	RGD:9068941	20240201	RGD		associated with alcohol dependence;mRNA:decreased expression:blood plasma (human)	PMID:21621370|REF_RGD_ID:401960070
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:10112	sleeping sickness		ISO	RGD:2786	D	RGD:9068941	20240502	RGD			PMID:25595977|REF_RGD_ID:405650615
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:10112	sleeping sickness		ISO	RGD:731041	D	RGD:9068941	20240502	RGD			PMID:25595977|REF_RGD_ID:405650615
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:15613151|REF_RGD_ID:1600935
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:12842	Guillain-Barre syndrome		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebrospinal fluid	PMID:15623725|REF_RGD_ID:1600925
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:1289	neurodegenerative disease		ISO	RGD:731040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23246865
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:1574	alcohol use disorder		ISO	RGD:2786	D	RGD:9068941	20250501	RGD			PMID:25241055|REF_RGD_ID:598150307
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:1849	cannabis dependence		ISO	RGD:731040	D	RGD:9068941	20240201	RGD		mRNA:increased expression:blood (human)	PMID:22846875|REF_RGD_ID:401960066
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:4195	hyperglycemia	treatment	ISO	RGD:2786	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:12217430|REF_RGD_ID:1358430
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:731041	D	RGD:9068941	20240201	RGD			PMID:29454841|REF_RGD_ID:401960065
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:8986	narcolepsy		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' UTR:3250C/T, all patients found heterozygous for the 3250T allele	PMID:11148249|REF_RGD_ID:1600922
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:8986	narcolepsy		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		early-onset narcolepsy; DNA:transversion:CDS:amino acid L16R; mutation only found in a single case	PMID:10973318|REF_RGD_ID:1600919
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:8986	narcolepsy		ISO	RGD:731041	D	RGD:9068941	20220825	MouseDO		OMIM:161400 | OMIM:605841 | OMIM:609039 | OMIM:612417 | OMIM:612851 | OMIM:614223 | OMIM:614250	
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:8986	narcolepsy	no_association	ISO	RGD:731040	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' UTR:no association with either -909C-T polymorphism or -22T allele (aka 3250T allele)	PMID:11723284|REF_RGD_ID:1600923
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9000641	Pain		ISO	RGD:731040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16202530
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002395	Hypothermia		ISO	RGD:731040	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26799708
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002801	Recurrence		ISO	RGD:731040	D	RGD:9068941	20240201	RGD		associated with nicotine dependence;protein:decreased expression :blood plasma (human)	PMID:30117237|REF_RGD_ID:401960073
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002916	Hyperphagia		ISO	RGD:2786	D	RGD:9068941	20200609	RGD			PMID:12535169|REF_RGD_ID:1358429
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002916	Hyperphagia		ISO	RGD:731040	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27071101
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002925	Narcolepsy 1		ISO	RGD:731040	D	RGD:7240710	20180130	OMIM			
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9002925	Narcolepsy 1		ISO	RGD:731040	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Narcolepsy 1	
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9004657	Weight Gain		ISO	RGD:731040	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27071101
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16357203
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9970	obesity		ISO	RGD:2786	D	RGD:9068941	20200609	RGD		mRNA:increased expression:perifornical nucleus	PMID:12560202|REF_RGD_ID:1358428
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9970	obesity		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma:orexin A NOT orexin B polypeptide, expression inversely related to degree of obesity	PMID:16135994|REF_RGD_ID:1600933
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9970	obesity		ISO	RGD:731040	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:fasting patients, no change after weight loss due to gastric banding	PMID:15970339|REF_RGD_ID:1600932
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9970	obesity		ISO	RGD:731040	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:27071101
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9970	obesity		ISO	RGD:731041	D	RGD:9068941	20200609	RGD		mRNA:increased expression:perifornical nucleus	PMID:12560202|REF_RGD_ID:1358428
12151352	HCRT	hypocretin neuropeptide precursor	gene	DOID:9976	heroin dependence	treatment	ISO	RGD:731040	D	RGD:9068941	20240201	RGD			PMID:35984180|REF_RGD_ID:401960075
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1601991	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Susceptibility to pheochromocytoma	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:22136840|PMID:22419703|PMID:22517557|PMID:22541004|PMID:24334765|PMID:25389632|PMID:25741868|PMID:26269449|PMID:26467025|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050771	pheochromocytoma	susceptibility	ISO	RGD:1601991	D	RGD:7240710	20230505	OMIM			
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32877928|PMID:33051659|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Hereditary paragangliomas and pheochromocytomas | ClinVar Annotator: match by term: PARAGANGLIOMATA | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:16199547|PMID:16266984|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050773	paraganglioma		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151364	TMEM127	transmembrane protein 127	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acute promyelocytic leukemia	PMID:25741868|PMID:28492532|PMID:32575117
12151364	TMEM127	transmembrane protein 127	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome	PMID:16266984|PMID:17576681|PMID:20154675|PMID:25389632|PMID:25741868|PMID:28492532|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:11830	myopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:1324	lung cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151364	TMEM127	transmembrane protein 127	gene	DOID:1596	depressive disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:2030	anxiety disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:2394	ovarian cancer		ISO	RGD:1601991	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12151364	TMEM127	transmembrane protein 127	gene	DOID:3312	bipolar disorder		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:4362	cervical cancer		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151364	TMEM127	transmembrane protein 127	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151364	TMEM127	transmembrane protein 127	gene	DOID:6039	uveal melanoma		ISO	RGD:1601991	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12151364	TMEM127	transmembrane protein 127	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29625052|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30877234|PMID:31666924|PMID:32575117|PMID:33051659
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26267327|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:33219105|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28492532|PMID:28567294|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22541004|PMID:23551308|PMID:23666964|PMID:24033266|PMID:24334765|PMID:24694336|PMID:25389632|PMID:25637381|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:27153395|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28717660|PMID:28855235|PMID:29282712|PMID:29625052|PMID:29909963|PMID:30113886|PMID:30246500|PMID:30877234|PMID:31666924|PMID:32575117|PMID:32877928|PMID:32994724|PMID:33051659|PMID:34308366|PMID:34439168|PMID:34870338|PMID:35189708|PMID:36451132|PMID:36655350|PMID:38874686|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601991	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:20154675|PMID:20923864|PMID:21156949|PMID:21613359|PMID:22136840|PMID:22419703|PMID:22517554|PMID:22517557|PMID:22541004|PMID:23551308|PMID:24033266|PMID:25741868|PMID:25800244|PMID:26269449|PMID:26467025|PMID:26960314|PMID:28384794|PMID:28458909|PMID:28492532|PMID:28567294|PMID:28646318|PMID:28855235|PMID:29282712|PMID:29625052|PMID:30680046|PMID:32575117|PMID:33051659|PMID:34308366|PMID:34439168|PMID:9536098
12151364	TMEM127	transmembrane protein 127	gene	DOID:9834	hyperopia		ISO	RGD:1601991	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:20154675|PMID:21156949|PMID:22541004|PMID:25741868|PMID:26269449|PMID:28492532|PMID:33051659
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:0080600	COVID-19		ISO	RGD:1344396	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:0110813	hereditary spastic paraplegia 62		ISO	RGD:1344396	D	RGD:7240710	20190315	OMIM			
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:0110813	hereditary spastic paraplegia 62		ISO	RGD:1344396	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 62 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 62, autosomal recessive	PMID:16199547|PMID:17576681|PMID:24482476|PMID:25741868|PMID:28492532|PMID:9536098
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28492532
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344396	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:9000276	Juvenile Amyotrophic Lateral Sclerosis		ISO	RGD:1344396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Juvenile amyotrophic lateral sclerosis	PMID:25741868
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151374	ERLIN1	ER lipid raft associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151390	CHRDL2	chordin like 2	gene	DOID:1115	sarcoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151390	CHRDL2	chordin like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151390	CHRDL2	chordin like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151390	CHRDL2	chordin like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151390	CHRDL2	chordin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:0070593	spermatogenic failure 94		ISO	RGD:1605975	D	RGD:7240710	20240710	OMIM			
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:0070593	spermatogenic failure 94		ISO	RGD:1605975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 94 | ClinVar Annotator: match by term: Spermatogenic failure 94	PMID:25741868|PMID:38441556|PMID:39245651
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:10534	stomach cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:1115	sarcoma		ISO	RGD:1605975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:12336	male infertility		ISO	RGD:1615819	D	RGD:9068941	20240208	MouseDO			
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:1324	lung cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:1909	melanoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:2394	ovarian cancer		ISO	RGD:1605975	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:3070	high grade glioma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:3275	thymoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:4362	cervical cancer		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:5041	esophageal cancer		ISO	RGD:1605975	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151411	CCDC146	coiled-coil domain containing 146	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605975	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151468	PDE6H	phosphodiesterase 6H	gene	DOID:0081025	achromatopsia 6		ISO	RGD:1353241	D	RGD:7240710	20180130	OMIM			
12151468	PDE6H	phosphodiesterase 6H	gene	DOID:0081025	achromatopsia 6		ISO	RGD:1353241	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Achromatopsia 6	PMID:15629837|PMID:22901948|PMID:25741868|PMID:27472364|PMID:27479814|PMID:28492532|PMID:31429209|PMID:31589614|PMID:31964843|PMID:34315337|PMID:35567543
12151468	PDE6H	phosphodiesterase 6H	gene	DOID:13399	color blindness		ISO	RGD:1353241	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25739440
12151468	PDE6H	phosphodiesterase 6H	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353241	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:22901948|PMID:25741868|PMID:27472364|PMID:27479814|PMID:28492532|PMID:31429209|PMID:31589614|PMID:31964843|PMID:34315337|PMID:35567543
12151479	RNASE4	ribonuclease, RNase A family, 4	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12151479	RNASE4	ribonuclease, RNase A family, 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736007	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12151491	ALKBH7	alkB homolog 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151491	ALKBH7	alkB homolog 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1352016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151491	ALKBH7	alkB homolog 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151491	ALKBH7	alkB homolog 7	gene	DOID:6039	uveal melanoma		ISO	RGD:1352016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12151491	ALKBH7	alkB homolog 7	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12151491	ALKBH7	alkB homolog 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:0060990	congenital disorder of deglycosylation 2		ISO	RGD:733679	D	RGD:7240710	20220427	OMIM			
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:0060990	congenital disorder of deglycosylation 2		ISO	RGD:733679	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 | ClinVar Annotator: match by term: Congenital disorder of deglycosylation 2	PMID:25741868|PMID:31865343|PMID:35045343|PMID:37486637
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:10534	stomach cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:1115	sarcoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:1324	lung cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:1909	melanoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:4362	cervical cancer		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:9006791	Hypogonadotropic Hypogonadism 27 without Anosmia		ISO	RGD:733679	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 27 without anosmia	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733679	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12151499	MAN2C1	mannosidase alpha class 2C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733679	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:7240710	20180130	OMIM			
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:0080567	congenital disorder of glycosylation Ip		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ALG11-congenital disorder of glycosylation | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1P	PMID:25741868|PMID:28492532|PMID:28649519|PMID:30676690|PMID:38733638
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:10316	pneumoconiosis		ISO	RGD:1604899	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35506645
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:1826	epilepsy		ISO	RGD:1604899	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:25741868
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:630	genetic disease		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:28649519
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604899	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151528	ALG11	ALG11 alpha-1,2-mannosyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604899	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151545	FAM186A	family with sequence similarity 186 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151545	FAM186A	family with sequence similarity 186 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:2301117	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151545	FAM186A	family with sequence similarity 186 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151545	FAM186A	family with sequence similarity 186 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2301117	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1348421	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Townes-Brocks syndrome	PMID:25741868
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:1115	sarcoma		ISO	RGD:1348421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:1324	lung cancer		ISO	RGD:1348421	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1348421	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rieger anomaly	PMID:26893459
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:9004070	Townes-Brocks Syndrome 2		ISO	RGD:1348421	D	RGD:7240710	20190315	OMIM			
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:9004070	Townes-Brocks Syndrome 2		ISO	RGD:1348421	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DACT1-related condition | ClinVar Annotator: match by term: TOWNES-BROCKS SYNDROME 2 | ClinVar Annotator: match by term: Townes-Brocks syndrome 2	PMID:25741868|PMID:28492532
12151579	DACT1	dishevelled binding antagonist of beta catenin 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1348421	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:10534	stomach cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:1909	melanoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:2377	multiple sclerosis		ISO	RGD:1343326	D	RGD:9068941	20201218	CTD		CTD Direct Evidence: marker/mechanism	PMID:31068361
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:4362	cervical cancer		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151589	CDK17	cyclin dependent kinase 17	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343326	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151609	TMEM71	transmembrane protein 71	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151609	TMEM71	transmembrane protein 71	gene	DOID:10534	stomach cancer		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151609	TMEM71	transmembrane protein 71	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151609	TMEM71	transmembrane protein 71	gene	DOID:1909	melanoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151609	TMEM71	transmembrane protein 71	gene	DOID:3070	high grade glioma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12151609	TMEM71	transmembrane protein 71	gene	DOID:3275	thymoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151609	TMEM71	transmembrane protein 71	gene	DOID:4362	cervical cancer		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151609	TMEM71	transmembrane protein 71	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151609	TMEM71	transmembrane protein 71	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151609	TMEM71	transmembrane protein 71	gene	DOID:6000	congestive heart failure		ISO	RGD:1606965	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12151609	TMEM71	transmembrane protein 71	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151609	TMEM71	transmembrane protein 71	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606965	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151642	L1TD1	LINE1 type transposase domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151642	L1TD1	LINE1 type transposase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1603640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151642	L1TD1	LINE1 type transposase domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603640	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151647	MIR302B	microRNA mir-302b	gene	DOID:3347	osteosarcoma		ISO	RGD:1349629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23845851
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:0050741	alcohol dependence		ISO	RGD:736217	D	RGD:9068941	20231207	RGD		protein:increased expression:brain	PMID:12354285|REF_RGD_ID:401901262
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736217	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:0060043	sexual health disorder		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12378847|PMID:17541852
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:0081292	traumatic brain injury	treatment	ISO	RGD:620640	D	RGD:9068941	20231214	RGD			PMID:26068867|REF_RGD_ID:401901590
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:10534	stomach cancer		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:1063	interstitial nephritis		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19814645
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7574463
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:1115	sarcoma		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:13839	extrapyramidal and movement disease	susceptibility	ISO	RGD:736217	D	RGD:9068941	20231207	RGD		associated with antipsychotic drug use;DNA:polymorphisms: :CYP2D6*3, CYP2D6*4 (human)	PMID:11927839|REF_RGD_ID:401901263
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:14330	Parkinson's disease		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14991823|PMID:15174030
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:1470	major depressive disorder	treatment	ISO	RGD:736217	D	RGD:9068941	20231207	RGD		associated with alcoholic psychosis;DNA:polymorphism: :1846G.A (rs3892097)(human)	PMID:34117140|REF_RGD_ID:401901273
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:1561	cognitive disorder		ISO	RGD:620640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20727252
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:1909	melanoma		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:736217	D	RGD:9068941	20200609	RGD			PMID:3186722|REF_RGD_ID:7207226
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:736217	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10435724|REF_RGD_ID:11353781
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:2559	opiate dependence	treatment	ISO	RGD:736217	D	RGD:9068941	20231207	RGD			PMID:10653207|REF_RGD_ID:401901270
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:2841	asthma		ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :1934G>A (human)	PMID:19575027|REF_RGD_ID:5143944
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:3021	acute kidney failure		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19814645
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:303	substance-related disorder		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17089107
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:4483	rhinitis		ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:*1934G>A (human)	PMID:20088379|REF_RGD_ID:5143945
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:736217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:543	dystonia		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16702617
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:5520	head and neck squamous cell carcinoma	treatment	ISO	RGD:736217	D	RGD:9068941	20231207	RGD		DNA:polymorphisms: :CYP2D6*4,CYP2D6*10(human)	PMID:19954746|REF_RGD_ID:401901267
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:6039	uveal melanoma		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:670	amphetamine abuse		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18280655
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:679	basal ganglia disease		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16000684
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835697
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12171760
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9000495	Tremor		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15570195
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9001189	Drug Overdose	susceptibility	ISO	RGD:736217	D	RGD:9068941	20231207	RGD		DNA:polymorphism: :CYP2D6*4(1846G>A)(human)	PMID:15349706|REF_RGD_ID:401901260
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15570195
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15570195
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:620640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9002295	Poor Drug Metabolism, CYP2D6-Related		ISO	RGD:736217	D	RGD:7240710	20180130	OMIM			
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9002295	Poor Drug Metabolism, CYP2D6-Related		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CODEINE, ULTRARAPID METABOLISM OF | ClinVar Annotator: match by term: Debrisoquine, poor metabolism of	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736218	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:736217	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:10435724|REF_RGD_ID:11353781
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9004657	Weight Gain		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19997080
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9005463	Occupational Diseases		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16737584
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9006462	Coma		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18359183
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23609392
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9007001	Bradycardia		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19284319
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:27490558|REF_RGD_ID:14700879
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9008394	Drug-Induced Dyskinesia		ISO	RGD:736217	D	RGD:9068941	20200609	RGD			PMID:12629505|REF_RGD_ID:1358549
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9008644	Dysmenorrhea	severity	ISO	RGD:736217	D	RGD:9068941	20231207	RGD		DNA:polymorphism:cds:p.Arg296Cys(human)	PMID:11055624|REF_RGD_ID:401901272
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19597703
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736217	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:15159443|PMID:17761971|PMID:19809024|PMID:21814747|PMID:22395643|PMID:22395644|PMID:23872831|PMID:24033728|PMID:24060820|PMID:24329190|PMID:24697814|PMID:25091503|PMID:27060675|PMID:27226358|PMID:27249031|PMID:27380339|PMID:27380342|PMID:27551126|PMID:27797974|PMID:27819145|PMID:27883289|PMID:27988492|PMID:28265459|PMID:28520357|PMID:28592184|PMID:28730340|PMID:28762370|PMID:28955222|PMID:29135105|PMID:29183390|PMID:29385237|PMID:29449008|PMID:29459457|PMID:29497277|PMID:29801584|PMID:30676859|PMID:31046213
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9119	acute myeloid leukemia	susceptibility	ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:11037802|REF_RGD_ID:11352820
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:SNP: :(rs16947)(human)	PMID:21518482|REF_RGD_ID:11352828
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9538	multiple myeloma	no_association	ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:20684753|REF_RGD_ID:11352804
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:SNP,deletion:splice junction,exon:1934G>A(human)	PMID:19593802|REF_RGD_ID:11252111
12151708	CYP2D15	cytochrome P450 family 2 subfamily D member 15	gene	DOID:9952	acute lymphoblastic leukemia	susceptibility	ISO	RGD:736217	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:11037802|REF_RGD_ID:11352820
12151720	NPY	neuropeptide Y	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:730830	D	RGD:9068941	20240229	RGD		DNA:SNP:cd: p.L7P (rs16139) (human)	PMID:20554694|REF_RGD_ID:401976551
12151720	NPY	neuropeptide Y	gene	DOID:0050830	peripheral artery disease		ISO	RGD:730830	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
12151720	NPY	neuropeptide Y	gene	DOID:0060001	withdrawal disorder		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16952158
12151720	NPY	neuropeptide Y	gene	DOID:0070309	absence epilepsy	treatment	ISO	RGD:3197	D	RGD:9068941	20241205	RGD			PMID:24039965|REF_RGD_ID:10448964
12151720	NPY	neuropeptide Y	gene	DOID:0070309	absence epilepsy	treatment	ISO	RGD:730830	D	RGD:9068941	20241205	RGD			PMID:17331209|REF_RGD_ID:10448963
12151720	NPY	neuropeptide Y	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11709213
12151720	NPY	neuropeptide Y	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:8592643|REF_RGD_ID:10432246
12151720	NPY	neuropeptide Y	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:22266216|REF_RGD_ID:10431479
12151720	NPY	neuropeptide Y	gene	DOID:10763	hypertension		ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:15699473|PMID:18835922|REF_RGD_ID:10448968|REF_RGD_ID:1357410
12151720	NPY	neuropeptide Y	gene	DOID:10763	hypertension		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L7P (human)	PMID:11689216|REF_RGD_ID:1580177
12151720	NPY	neuropeptide Y	gene	DOID:11832	visual epilepsy		ISO	RGD:730830	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15451008|PMID:16194568|PMID:18005069
12151720	NPY	neuropeptide Y	gene	DOID:12858	Huntington's disease		ISO	RGD:11016	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hypothalamus	PMID:23697793|REF_RGD_ID:10433112
12151720	NPY	neuropeptide Y	gene	DOID:12858	Huntington's disease		ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:1710657|REF_RGD_ID:10433553
12151720	NPY	neuropeptide Y	gene	DOID:12858	Huntington's disease	no_association	ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs16147 (human)	PMID:24121255|REF_RGD_ID:10431606
12151720	NPY	neuropeptide Y	gene	DOID:12858	Huntington's disease	onset	ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3037354 (human)	PMID:24121255|REF_RGD_ID:10431606
12151720	NPY	neuropeptide Y	gene	DOID:1287	cardiovascular system disease		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9812770
12151720	NPY	neuropeptide Y	gene	DOID:1307	dementia		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		associated with Parkinson Disease;protein:decreased expression:cerebral cortex	PMID:2903567|REF_RGD_ID:10433462
12151720	NPY	neuropeptide Y	gene	DOID:1459	hypothyroidism		ISO	RGD:3197	D	RGD:9068941	20241017	RGD		mRNA, protein:altered expression:arcuate nucleus	PMID:26538454|REF_RGD_ID:11554627
12151720	NPY	neuropeptide Y	gene	DOID:1574	alcohol use disorder		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		DNA:deletion:intron:g.4666_4674del (rat)	PMID:15749341|REF_RGD_ID:1357412
12151720	NPY	neuropeptide Y	gene	DOID:1574	alcohol use disorder		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17572454
12151720	NPY	neuropeptide Y	gene	DOID:1574	alcohol use disorder		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.L7P (human)	PMID:12215082|REF_RGD_ID:10430830
12151720	NPY	neuropeptide Y	gene	DOID:1596	depressive disorder		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus, prefrontal cortex	PMID:22406386|REF_RGD_ID:10448940
12151720	NPY	neuropeptide Y	gene	DOID:1596	depressive disorder		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:17572454|PMID:9729278
12151720	NPY	neuropeptide Y	gene	DOID:1596	depressive disorder		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:snp, missense mutation:promoter, cds:g.-399T>C, p.L7P (human)	PMID:14757324|REF_RGD_ID:1358535
12151720	NPY	neuropeptide Y	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:19623606|REF_RGD_ID:10448937
12151720	NPY	neuropeptide Y	gene	DOID:1824	status epilepticus		ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:19270346|REF_RGD_ID:10448969
12151720	NPY	neuropeptide Y	gene	DOID:1826	epilepsy		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20064661|PMID:8868293
12151720	NPY	neuropeptide Y	gene	DOID:1936	atherosclerosis	severity	ISO	RGD:11016	D	RGD:9068941	20200609	RGD			PMID:21468772|REF_RGD_ID:10448273
12151720	NPY	neuropeptide Y	gene	DOID:2030	anxiety disorder		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11440811
12151720	NPY	neuropeptide Y	gene	DOID:2030	anxiety disorder	susceptibility	ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes	PMID:22328461|REF_RGD_ID:6480264
12151720	NPY	neuropeptide Y	gene	DOID:2349	arteriosclerosis		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L7P (human)	PMID:11689216|REF_RGD_ID:1580177
12151720	NPY	neuropeptide Y	gene	DOID:2841	asthma		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9731035
12151720	NPY	neuropeptide Y	gene	DOID:303	substance-related disorder		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19063928
12151720	NPY	neuropeptide Y	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15716408
12151720	NPY	neuropeptide Y	gene	DOID:3328	temporal lobe epilepsy	treatment	ISO	RGD:730830	D	RGD:9068941	20200609	RGD			PMID:18477594|REF_RGD_ID:10434563
12151720	NPY	neuropeptide Y	gene	DOID:3526	cerebral infarction		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebral cortex	PMID:17123484|REF_RGD_ID:10448931
12151720	NPY	neuropeptide Y	gene	DOID:3526	cerebral infarction		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11821007
12151720	NPY	neuropeptide Y	gene	DOID:4483	rhinitis		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12746121
12151720	NPY	neuropeptide Y	gene	DOID:571	median neuropathy		ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:19456245|REF_RGD_ID:10448955
12151720	NPY	neuropeptide Y	gene	DOID:574	peripheral nervous system disease		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17686523
12151720	NPY	neuropeptide Y	gene	DOID:6000	congestive heart failure		ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:17804485|REF_RGD_ID:7175103
12151720	NPY	neuropeptide Y	gene	DOID:9000040	Hypertrophy		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9812770
12151720	NPY	neuropeptide Y	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:20533056|REF_RGD_ID:10448943
12151720	NPY	neuropeptide Y	gene	DOID:9000503	Nasal Obstruction		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9288221
12151720	NPY	neuropeptide Y	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		associated with Obesity;DNA:missense mutation:cds:p.L7P (human)	PMID:11689216|REF_RGD_ID:1580177
12151720	NPY	neuropeptide Y	gene	DOID:9000998	Brain Injuries		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		protein:increased expression:adrenal medulla	PMID:23570732|REF_RGD_ID:10448961
12151720	NPY	neuropeptide Y	gene	DOID:9001109	Anorexia		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		associated with Neoplasms	PMID:17234300|REF_RGD_ID:10448965
12151720	NPY	neuropeptide Y	gene	DOID:9001109	Anorexia		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16084549|PMID:16101753|PMID:25825358
12151720	NPY	neuropeptide Y	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10675796
12151720	NPY	neuropeptide Y	gene	DOID:9001981	Weight Loss		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25825358
12151720	NPY	neuropeptide Y	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3197	D	RGD:9068941	20200609	RGD		associated with Sciatic Neuropathy	PMID:19556004|REF_RGD_ID:10448929
12151720	NPY	neuropeptide Y	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:730830	D	RGD:9068941	20210709	CTD		CTD Direct Evidence: therapeutic	PMID:32956829
12151720	NPY	neuropeptide Y	gene	DOID:9002362	Hyperkinesis		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19063928
12151720	NPY	neuropeptide Y	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:15068713|REF_RGD_ID:1580182
12151720	NPY	neuropeptide Y	gene	DOID:9004086	AIDS Dementia Complex	severity	ISO	RGD:730830	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:8815163|REF_RGD_ID:10431910
12151720	NPY	neuropeptide Y	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		in dialysis patients with a NPY receptor Y2 mutation	PMID:20543711|REF_RGD_ID:7175091
12151720	NPY	neuropeptide Y	gene	DOID:9004663	Intestinal Ischemia		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		associated with Brain Injuries;mRNA, protein:increased expression:jejunum, plasma	PMID:23622727|REF_RGD_ID:10448970
12151720	NPY	neuropeptide Y	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19063928
12151720	NPY	neuropeptide Y	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		protein:increased expression:paraventricular nucleus of hypothalamus	PMID:21042571|REF_RGD_ID:10448960
12151720	NPY	neuropeptide Y	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:3197	D	RGD:9068941	20200609	RGD			PMID:15342191|REF_RGD_ID:1580787
12151720	NPY	neuropeptide Y	gene	DOID:9006709	Primary Graft Dysfunction		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:blood, mononuclear cell	PMID:18981110|REF_RGD_ID:10448956
12151720	NPY	neuropeptide Y	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3197	D	RGD:9068941	20241214	RGD		protein:decreased expression:hippocampus	PMID:21915341|REF_RGD_ID:10448927
12151720	NPY	neuropeptide Y	gene	DOID:9007090	Experimental Seizures	treatment	ISO	RGD:3197	D	RGD:9068941	20241205	RGD			PMID:19038255|REF_RGD_ID:10448944
12151720	NPY	neuropeptide Y	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9731035
12151720	NPY	neuropeptide Y	gene	DOID:9007956	Febrile Seizures		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dentate gyrus (rat)	PMID:15800380|REF_RGD_ID:1580179
12151720	NPY	neuropeptide Y	gene	DOID:9007980	Sleep Deprivation		ISO	RGD:3197	D	RGD:9068941	20241017	RGD		mRNA:increased expression:paraventricular nucleus of thalamus	PMID:16210372|REF_RGD_ID:407580523
12151720	NPY	neuropeptide Y	gene	DOID:9008023	Memory Disorders		ISO	RGD:730830	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2611661
12151720	NPY	neuropeptide Y	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730830	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.L7P (human)	PMID:15926114|REF_RGD_ID:1580183
12151720	NPY	neuropeptide Y	gene	DOID:9970	obesity		ISO	RGD:3197	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:hypothalamus	PMID:17447163|REF_RGD_ID:10448938
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1350689	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:1324	lung cancer		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:1909	melanoma		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151727	HTRA4	HtrA serine peptidase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350689	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:10126	keratoconus		ISO	RGD:1602336	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1602336	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151739	TSC22D2	TSC22 domain family member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602336	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12151751	CDC123	cell division cycle 123	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151751	CDC123	cell division cycle 123	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151751	CDC123	cell division cycle 123	gene	DOID:10534	stomach cancer		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151751	CDC123	cell division cycle 123	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151751	CDC123	cell division cycle 123	gene	DOID:1324	lung cancer		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151751	CDC123	cell division cycle 123	gene	DOID:1909	melanoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151751	CDC123	cell division cycle 123	gene	DOID:3275	thymoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151751	CDC123	cell division cycle 123	gene	DOID:4362	cervical cancer		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151751	CDC123	cell division cycle 123	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12151751	CDC123	cell division cycle 123	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151751	CDC123	cell division cycle 123	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151751	CDC123	cell division cycle 123	gene	DOID:9003566	Mesothelioma		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12151751	CDC123	cell division cycle 123	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12151751	CDC123	cell division cycle 123	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151751	CDC123	cell division cycle 123	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733862	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:0112116	combined oxidative phosphorylation deficiency 43		ISO	RGD:1345582	D	RGD:7240710	20200429	OMIM			
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:0112116	combined oxidative phosphorylation deficiency 43		ISO	RGD:1345582	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 43 | ClinVar Annotator: match by term: TIMM22-related disorder	PMID:25741868|PMID:28492532
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1345582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:5041	esophageal cancer		ISO	RGD:1345582	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151771	TIMM22	translocase of inner mitochondrial membrane 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345582	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:1324	lung cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:1909	melanoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:2394	ovarian cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:4362	cervical cancer		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:4621	holoprosencephaly		ISO	RGD:1605311	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:28677295
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:5041	esophageal cancer		ISO	RGD:1605311	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30510241
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151779	BOC	BOC cell adhesion associated, oncogene regulated	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1605311	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12151816	GJC3	gap junction protein gamma 3	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1553447	D	RGD:9068941	20200609	RGD			PMID:16481432|REF_RGD_ID:1578421
12151816	GJC3	gap junction protein gamma 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:10534	stomach cancer		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:1324	lung cancer		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:1909	melanoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:4362	cervical cancer		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1605703	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151823	MTMR11	myotubularin related protein 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605703	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0002116	pterygium		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pterygium	PMID:25741868
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:19814614|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0060058	lymphoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0060642	recessive dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive epidermolysis bullosa dystrophica inversa | ClinVar Annotator: match by term: Dystrophic Epidermolysis Bullosa, Recessive | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica inversa, autosomal recessive | ClinVar Annotator: match by term: Hallopeau-Siemens Disease | ClinVar Annotator: match by term: Recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: epidermolysis bullosa dystrophica, autosomal recessive | ClinVar Annotator: match by term: recessive dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: severe generalized recessive dystrophic epidermolysis bullosa	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10836608|PMID:10944088|PMID:11000732|PMID:11167698|PMID:11378329|PMID:11698408|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17425959|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20184583|PMID:20555349|PMID:20598510|PMID:21113014|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23688405|PMID:23786535|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24252097|PMID:24533879|PMID:24794830|PMID:24899116|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25284350|PMID:25683012|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26168399|PMID:26289024|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26707537|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29229433|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29512197|PMID:29531004|PMID:29753707|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31589614|PMID:31670143|PMID:31786163|PMID:32484238|PMID:32506467|PMID:32707200|PMID:33258232|PMID:33274474|PMID:33587123|PMID:33969388|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34597860|PMID:34674926|PMID:34826142|PMID:35149000|PMID:35150601|PMID:35222512|PMID:35347281|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36419915|PMID:36430820|PMID:37067131|PMID:37302620|PMID:37556444|PMID:38264431|PMID:38368142|PMID:38484894|PMID:39141798|PMID:40701620|PMID:7695699|PMID:7861014|PMID:7883979|PMID:8037207|PMID:8218237|PMID:8513326|PMID:8592061|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0060735	generalized severe epidermolysis bullosa simplex 1A		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 1A, generalized severe	PMID:15576681|PMID:16971478|PMID:17229600|PMID:25741868|PMID:28492532|PMID:9636098
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080082	nonsyndromic congenital nail disorder 4		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANONYCHIA TOTALIS	PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33274474|PMID:34230977|PMID:35979658|PMID:8755915
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080086	nonsyndromic congenital nail disorder 8		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonsyndromic congenital nail disorder 8 | ClinVar Annotator: match by term: TOENAIL DYSTROPHY, ISOLATED	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080224	autosomal dominant dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal dominant	PMID:10232408|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11710955|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:2425097|PMID:25703736|PMID:25741868|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28297147|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:29963685|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:37827535|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8644729|PMID:8752681|PMID:8755915|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9856843
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0080988	pretibial dystrophic epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa, pretibial, autosomal recessive | ClinVar Annotator: match by term: Pretibial dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: Pretibial epidermolysis bullosa	PMID:10084325|PMID:10232408|PMID:10408773|PMID:10504458|PMID:10836608|PMID:10944088|PMID:11167698|PMID:11378329|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19197535|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:22481662|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24794830|PMID:25284350|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26289024|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28297147|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:37827535|PMID:39141798|PMID:7695699|PMID:7861014|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0111162	epidermal nevus		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermal nevus	PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0111345	transient bullous dermolysis of the newborn		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL FORM | ClinVar Annotator: match by term: TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN | ClinVar Annotator: match by term: Transient bullous dermolysis of the newborn	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23106673|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9406826|PMID:9536098|PMID:9666834|PMID:9740253
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:0111347	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE	PMID:10084325|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:25703736|PMID:25741868|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:11720	distal myopathy		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Distal muscle weakness	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Duane anomaly	PMID:11167698|PMID:12228020|PMID:16439963|PMID:19344236|PMID:21448560|PMID:22058051|PMID:25741868|PMID:27746867|PMID:27899325|PMID:28492532|PMID:30924923|PMID:34435747|PMID:7695699|PMID:8218237
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:1697	ichthyosis		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:25741868
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:19814614|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aplasia cutis congenita	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2154	nephroblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephroblastoma	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2355	anemia		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:16971478|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2394	ovarian cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2730	epidermolysis bullosa		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa	PMID:25741868
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:1322869	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Epidermolytic ichthyosis	PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		IAGP		D	RGD:12801476	20250716	OMIA		Epidermolysis bullosa, dystrophic	PMID:8547021|PMID:10886525|PMID:16119884|PMID:21697889|PMID:12874109|PMID:28493971|PMID:33291836|PMID:34606885|PMID:34861369
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10383749|PMID:10408773|PMID:10469344|PMID:10504458|PMID:10583163|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11167698|PMID:11378329|PMID:11698408|PMID:11710955|PMID:11781296|PMID:11843659|PMID:11874498|PMID:12207583|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:15509587|PMID:15550148|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16484981|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17282977|PMID:17425959|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18030675|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20585476|PMID:20598510|PMID:20920254|PMID:21124339|PMID:21269315|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22070715|PMID:22209565|PMID:22266148|PMID:23237810|PMID:23397949|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24279917|PMID:24317394|PMID:24577406|PMID:24599399|PMID:24794830|PMID:24831336|PMID:24947307|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25284350|PMID:25525159|PMID:25556825|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26446410|PMID:26467025|PMID:26612796|PMID:26763448|PMID:26864810|PMID:27153395|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:28853495|PMID:29130490|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29963685|PMID:30280950|PMID:31001817|PMID:31090061|PMID:31670143|PMID:31709745|PMID:31786163|PMID:31930626|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32860008|PMID:33274474|PMID:33587123|PMID:33969388|PMID:34046686|PMID:34230977|PMID:34435747|PMID:34674926|PMID:34826142|PMID:34948168|PMID:35432467|PMID:35885431|PMID:35979658|PMID:36287101|PMID:36430820|PMID:5910871|PMID:7577595|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8088783|PMID:8218237|PMID:8345225|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9326325|PMID:9347800|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystrophic epidermolysis bullosa | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica	PMID:10084325|PMID:10233777|PMID:10367729|PMID:10383749|PMID:10383751|PMID:10408773|PMID:10469344|PMID:1050445|PMID:10504458|PMID:10836608|PMID:10944088|PMID:10980546|PMID:11000732|PMID:11167698|PMID:11260189|PMID:11698408|PMID:11710955|PMID:11722462|PMID:11781296|PMID:11843659|PMID:12207583|PMID:12228020|PMID:12485454|PMID:12653705|PMID:12735646|PMID:12787275|PMID:12813757|PMID:14616374|PMID:15113589|PMID:15115517|PMID:15509587|PMID:15807692|PMID:15816848|PMID:15888141|PMID:16185268|PMID:16189623|PMID:16199547|PMID:16271705|PMID:16439963|PMID:16470588|PMID:16484981|PMID:16500083|PMID:16533235|PMID:16871478|PMID:16965329|PMID:16965439|PMID:16971478|PMID:17073998|PMID:17282977|PMID:17425959|PMID:17434045|PMID:17495952|PMID:17501948|PMID:17576681|PMID:17916216|PMID:18414213|PMID:18429782|PMID:18440202|PMID:18450758|PMID:18558993|PMID:18565177|PMID:18951764|PMID:19197535|PMID:19344236|PMID:19439919|PMID:19643583|PMID:19665875|PMID:19681861|PMID:19694003|PMID:19694005|PMID:19726672|PMID:19814614|PMID:20060269|PMID:20108398|PMID:20108428|PMID:20184583|PMID:20357813|PMID:20376098|PMID:20555349|PMID:20585476|PMID:20598510|PMID:20818854|PMID:20920254|PMID:21113014|PMID:21124339|PMID:21182502|PMID:21196708|PMID:21382783|PMID:21448560|PMID:21471992|PMID:22058051|PMID:22209565|PMID:22266148|PMID:22352907|PMID:22382802|PMID:22854212|PMID:23013315|PMID:23237810|PMID:23786535|PMID:23947675|PMID:24032424|PMID:24033266|PMID:24075228|PMID:24170138|PMID:24210835|PMID:24213372|PMID:2425097|PMID:24252097|PMID:24317394|PMID:24577406|PMID:24599399|PMID:24794830|PMID:24947307|PMID:24989707|PMID:25088787|PMID:25155989|PMID:25201089|PMID:25222259|PMID:25525159|PMID:25556825|PMID:25683012|PMID:25703736|PMID:25741868|PMID:25819062|PMID:25913354|PMID:26076072|PMID:26102279|PMID:26143532|PMID:26148662|PMID:26289024|PMID:26446410|PMID:26467025|PMID:26595603|PMID:26612796|PMID:26707537|PMID:26763448|PMID:26864810|PMID:27130450|PMID:27149842|PMID:27544590|PMID:27746867|PMID:27899325|PMID:28008652|PMID:28492532|PMID:28549954|PMID:28830826|PMID:28853495|PMID:29229433|PMID:29242947|PMID:29272047|PMID:29326176|PMID:29334134|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29500833|PMID:29531004|PMID:29753707|PMID:29963685|PMID:30011071|PMID:30194425|PMID:30280950|PMID:30467950|PMID:30549102|PMID:30693469|PMID:30924923|PMID:31001817|PMID:31090061|PMID:31130284|PMID:31167965|PMID:31215591|PMID:31557321|PMID:31578311|PMID:31634165|PMID:31670143|PMID:31670199|PMID:31786163|PMID:31930626|PMID:32191290|PMID:32250485|PMID:32383240|PMID:32484238|PMID:32506467|PMID:32537942|PMID:32694622|PMID:32707200|PMID:32946877|PMID:32978145|PMID:33258232|PMID:33274474|PMID:33502061|PMID:33587123|PMID:33796225|PMID:33969388|PMID:33974636|PMID:34008892|PMID:34046686|PMID:34230977|PMID:34286919|PMID:34435747|PMID:34458008|PMID:34543471|PMID:34597860|PMID:34671977|PMID:34674926|PMID:34826142|PMID:34930662|PMID:34948168|PMID:35121199|PMID:35149000|PMID:35222512|PMID:35314946|PMID:35347281|PMID:35432467|PMID:35446444|PMID:35581191|PMID:35598269|PMID:35656234|PMID:35690907|PMID:35779740|PMID:35779741|PMID:35950135|PMID:35979658|PMID:36287101|PMID:36340603|PMID:36385635|PMID:36419915|PMID:36430820|PMID:36578049|PMID:36809127|PMID:36880304|PMID:36964991|PMID:37067131|PMID:37302620|PMID:37556444|PMID:37623260|PMID:37827535|PMID:38237731|PMID:38264431|PMID:38272206|PMID:38368142|PMID:38378365|PMID:38462666|PMID:38484894|PMID:38735484|PMID:38803406|PMID:38820176|PMID:39039807|PMID:39141798|PMID:39167390|PMID:39355753|PMID:40013374|PMID:40025372|PMID:40701620|PMID:5910871|PMID:7695699|PMID:7833933|PMID:7861014|PMID:8037207|PMID:8170945|PMID:8218237|PMID:8288900|PMID:8592061|PMID:8618004|PMID:8618018|PMID:8618021|PMID:8644729|PMID:8644730|PMID:8752681|PMID:8755915|PMID:8900535|PMID:9042157|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9326325|PMID:9347800|PMID:9375848|PMID:9536098|PMID:9666834|PMID:9668111|PMID:9740253|PMID:9804332|PMID:9856844|PMID:9881948|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:4959	epidermolysis bullosa dystrophica	susceptibility	ISO	RGD:1322869	D	RGD:9068941	20200609	RGD		DNA:insertion-deletion	PMID:8275094|REF_RGD_ID:1600946
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:11000732|PMID:16199547|PMID:16971478|PMID:18951764|PMID:19643583|PMID:19814614|PMID:22266148|PMID:25741868|PMID:28492532|PMID:35979658|PMID:9326325
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19814614|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:576	proteinuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:19814614|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10232408|PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:19681861|PMID:21448560|PMID:22058051|PMID:22481662|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28297147|PMID:28492532|PMID:29963685|PMID:35979658|PMID:37827535|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:687	hepatoblastoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:12787275|PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24252097|PMID:25741868|PMID:28492532|PMID:28830826|PMID:29229433|PMID:35979658|PMID:36287101|PMID:7695699|PMID:8218237|PMID:8592061|PMID:9326325
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hematuria	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9000918	Disease Progression		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30381462
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12787275|PMID:15509587|PMID:16484981|PMID:16971478|PMID:18450758|PMID:19344236|PMID:21448560|PMID:22058051|PMID:22266148|PMID:24252097|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29229433|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:7695699|PMID:8037207|PMID:8218237|PMID:8592061|PMID:9326325
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9003984	Hyperpigmentation		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperpigmentation	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9004739	Cicatrix		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Scarring	PMID:12787275|PMID:16971478|PMID:19344236|PMID:22058051|PMID:22266148|PMID:24794830|PMID:25741868|PMID:26289024|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:39141798|PMID:7695699|PMID:7861014|PMID:8037207|PMID:8218237|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9005695	Malnutrition		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malnutrition	PMID:16971478|PMID:25741868|PMID:28492532
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9005879	Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant	PMID:10408773|PMID:11781296|PMID:12485454|PMID:12787275|PMID:15888141|PMID:16971478|PMID:19681861|PMID:20598510|PMID:22266148|PMID:24033266|PMID:25741868|PMID:28492532|PMID:33274474|PMID:34230977|PMID:35979658|PMID:8755915
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9006202	Pruritus		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:19344236|PMID:22058051|PMID:24794830|PMID:25741868|PMID:26289024|PMID:28492532|PMID:28830826|PMID:35979658|PMID:7695699|PMID:7861014|PMID:8218237|PMID:9892921
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:7240710	20180130	OMIM			
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9006711	Epidermolysis Bullosa Pruriginosa		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DYSTROPHIC EPIDERMOLYSIS BULLOSA PRURIGINOSA | ClinVar Annotator: match by term: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal dominant | ClinVar Annotator: match by term: Epidermolysis bullosa pruriginosa, autosomal recessive	PMID:10084325|PMID:10233777|PMID:10383749|PMID:10408773|PMID:10504458|PMID:10836608|PMID:11167698|PMID:11781296|PMID:12228020|PMID:12485454|PMID:12787275|PMID:12813757|PMID:15816848|PMID:15888141|PMID:16189623|PMID:16199547|PMID:16439963|PMID:16500083|PMID:16965329|PMID:16971478|PMID:17576681|PMID:18429782|PMID:18440202|PMID:18565177|PMID:19344236|PMID:19665875|PMID:19681861|PMID:19814614|PMID:20598510|PMID:21182502|PMID:21448560|PMID:22058051|PMID:22209565|PMID:22266148|PMID:23237810|PMID:24033266|PMID:24210835|PMID:24213372|PMID:24989707|PMID:25703736|PMID:25741868|PMID:25877244|PMID:26143532|PMID:26446410|PMID:26467025|PMID:27746867|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29364557|PMID:29427316|PMID:29473190|PMID:29531004|PMID:30280950|PMID:30467950|PMID:30924923|PMID:31001817|PMID:31670143|PMID:32484238|PMID:32707200|PMID:33274474|PMID:33587123|PMID:33974636|PMID:34230977|PMID:34435747|PMID:34597860|PMID:34826142|PMID:35222512|PMID:35979658|PMID:36287101|PMID:36419915|PMID:38368142|PMID:7695699|PMID:8218237|PMID:8644729|PMID:8755915|PMID:9182828|PMID:9215684|PMID:9242516|PMID:9284110|PMID:9536098|PMID:9666834|PMID:9740253|PMID:9881948
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1322869	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:10383749|PMID:10504458|PMID:16199547|PMID:16971478|PMID:22209565|PMID:24989707|PMID:25741868|PMID:28492532|PMID:29364557
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9007661	Dwarfism		ISO	RGD:1322869	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12787275|PMID:16971478|PMID:22266148|PMID:25741868|PMID:27899325|PMID:28492532|PMID:28830826|PMID:29753707|PMID:35979658|PMID:36287101|PMID:37556444|PMID:38368142|PMID:8037207
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322869	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10504458|PMID:11710955|PMID:16971478|PMID:17425959|PMID:18414213|PMID:19344236|PMID:21448560|PMID:22058051|PMID:23786535|PMID:2425097|PMID:24252097|PMID:25741868|PMID:28492532|PMID:29963685|PMID:5910871|PMID:7695699|PMID:8218237|PMID:8618021|PMID:8752681
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500
12151869	COL7A1	collagen type VII alpha 1 chain	gene	DOID:9256	colorectal cancer		ISO	RGD:1322869	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12151996	RPS17	ribosomal protein S17	gene	DOID:0111890	Diamond-Blackfan anemia 4		ISO	RGD:1351474	D	RGD:7240710	20180130	OMIM			
12151996	RPS17	ribosomal protein S17	gene	DOID:0111890	Diamond-Blackfan anemia 4		ISO	RGD:1351474	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIAMOND-BLACKFAN ANEMIA 4 | ClinVar Annotator: match by term: Diamond-Blackfan anemia 4	PMID:17647292|PMID:19953637|PMID:25741868
12151996	RPS17	ribosomal protein S17	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1351474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aase syndrome | ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:25741868
12151996	RPS17	ribosomal protein S17	gene	DOID:1342	congenital hypoplastic anemia		ISO	RGD:1351474	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypoplastic anemia	PMID:25741868
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:38398418|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23147450|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23071725|PMID:23147450|PMID:23299917|PMID:23381804|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23871885|PMID:23889974|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24793512|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25445213|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26230511|PMID:26264440|PMID:26272908|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27194543|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29590070|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31319917|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33232181|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33673806|PMID:33684294|PMID:33784018|PMID:33919104|PMID:34012068|PMID:34135346|PMID:34316868|PMID:34317382|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35276540|PMID:35297182|PMID:35300203|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36768812|PMID:37198425|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: familial isolated arrhythmogenic right ventricular dysplasia	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:19863551|PMID:20400443|PMID:20646679|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24704780|PMID:24793512|PMID:24832006|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28492532|PMID:28798025|PMID:29255176|PMID:29802319|PMID:30122538|PMID:30665703|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31024045|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33684294|PMID:34012068|PMID:34135346|PMID:34426522|PMID:34621001|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36768812|PMID:37198425|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:40008663|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy	susceptibility	ISO	RGD:1319763	D	RGD:9068941	20230420	RGD		DNA:SNP:exon 11: c.1660C>T, p.Gln554X (human)	PMID:25497880|REF_RGD_ID:243065272
12152005	DSC2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23757202|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:26138720|PMID:26220970|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:29032884|PMID:29367541|PMID:29641836|PMID:29802319|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31983221|PMID:32665702|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33684294|PMID:34135346|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26310507|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30847666|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34393635|PMID:34426522|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:37273868|PMID:37418234|PMID:37477868|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:1245073|PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:205460|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21270786|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21716271|PMID:21822014|PMID:21859740|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23698643|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24503780|PMID:24585727|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25974703|PMID:26138720|PMID:26220970|PMID:26264440|PMID:26272908|PMID:26310507|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27884173|PMID:27930701|PMID:27981572|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28798025|PMID:28818065|PMID:29032884|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:29970176|PMID:30122538|PMID:30371277|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30830208|PMID:30847666|PMID:31333075|PMID:31376648|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31534214|PMID:31568572|PMID:31737537|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32665702|PMID:32746448|PMID:32826072|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:34393635|PMID:34400560|PMID:34426522|PMID:34621001|PMID:35087879|PMID:35276540|PMID:35297182|PMID:35470680|PMID:35653365|PMID:35703482|PMID:35819174|PMID:35877578|PMID:36178741|PMID:36293497|PMID:36672924|PMID:37273868|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37937776|PMID:38398418|PMID:38689299|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20857253|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23347029|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23810894|PMID:23812740|PMID:23861362|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24503780|PMID:24585727|PMID:24704780|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25525159|PMID:25576714|PMID:25616645|PMID:25637381|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26272908|PMID:26310507|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28153106|PMID:28416588|PMID:28492532|PMID:28588093|PMID:28798025|PMID:29038103|PMID:29178656|PMID:29192238|PMID:29255176|PMID:29367541|PMID:29802319|PMID:30122538|PMID:30471092|PMID:30665703|PMID:30670673|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31319917|PMID:31376648|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31514951|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33500567|PMID:33662488|PMID:33684294|PMID:33954932|PMID:34012068|PMID:34088380|PMID:34135346|PMID:34621001|PMID:34935411|PMID:35653365|PMID:35877578|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:36672924|PMID:37198425|PMID:37273868|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38398418|PMID:38689299|PMID:40008663|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest | ClinVar Annotator: match by term: cardiac arrest	PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:28288337|PMID:28492532|PMID:29750433|PMID:30830208
12152005	DSC2	desmocollin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:17033975|PMID:20031616|PMID:20031617|PMID:20197793|PMID:20400443|PMID:20716751|PMID:20829228|PMID:21062920|PMID:21606390|PMID:21606396|PMID:21859740|PMID:23299917|PMID:23757202|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24967631|PMID:25351510|PMID:25447171|PMID:25637381|PMID:25741868|PMID:28255936|PMID:28492532|PMID:7971964
12152005	DSC2	desmocollin 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868
12152005	DSC2	desmocollin 2	gene	DOID:0080718	GNE myopathy		ISO	RGD:1319763	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inclusion body myopathy quadriceps sparing	PMID:25741868|PMID:28492532
12152005	DSC2	desmocollin 2	gene	DOID:0110070	arrhythmogenic right ventricular dysplasia 1		ISO	RGD:1319763	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 1	PMID:19863551|PMID:23299917|PMID:25163546|PMID:25637381|PMID:25741868|PMID:28492532
12152005	DSC2	desmocollin 2	gene	DOID:0110077	arrhythmogenic right ventricular dysplasia 9		ISO	RGD:1319763	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 9	
12152005	DSC2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:7240710	20180130	OMIM			
12152005	DSC2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair	PMID:16199547|PMID:17033975|PMID:17186466|PMID:17363426|PMID:17576681|PMID:17963498|PMID:18382419|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20031616|PMID:20031617|PMID:20152563|PMID:20197793|PMID:20400443|PMID:20646679|PMID:20716751|PMID:20829228|PMID:20857253|PMID:20864495|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:22458570|PMID:22722193|PMID:23147450|PMID:23292937|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23671136|PMID:23757202|PMID:23810894|PMID:23812740|PMID:23826350|PMID:23861362|PMID:23863954|PMID:23911551|PMID:24033266|PMID:24055113|PMID:24070718|PMID:24125834|PMID:24503780|PMID:24704780|PMID:24832006|PMID:24967631|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25447171|PMID:25497880|PMID:25516398|PMID:25525159|PMID:25569433|PMID:25576714|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25819062|PMID:25820315|PMID:25825460|PMID:26138720|PMID:26220970|PMID:26332594|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:26780541|PMID:27000522|PMID:27153395|PMID:27532257|PMID:27884173|PMID:27930701|PMID:28069705|PMID:28153106|PMID:28166811|PMID:28255936|PMID:28288337|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28588093|PMID:28600387|PMID:28798025|PMID:29032884|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29590070|PMID:29641836|PMID:29750433|PMID:29802319|PMID:30122538|PMID:30790397|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31386562|PMID:31397097|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31737537|PMID:31931689|PMID:31970460|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32746448|PMID:32853555|PMID:32880476|PMID:33087929|PMID:33258288|PMID:33652588|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34135346|PMID:35276540|PMID:7971964|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0110082	arrhythmogenic right ventricular dysplasia 11		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11 | ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy, type 11 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 11	PMID:16199547|PMID:17186466|PMID:17363426|PMID:17576681|PMID:18678517|PMID:18957847|PMID:19863551|PMID:20152563|PMID:20400443|PMID:20646679|PMID:20716751|PMID:21062920|PMID:21220045|PMID:21606390|PMID:21606396|PMID:21636032|PMID:21822014|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23514727|PMID:23812740|PMID:23861362|PMID:23863954|PMID:23871674|PMID:23911551|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25163546|PMID:25351510|PMID:25390934|PMID:25497880|PMID:25525159|PMID:25637381|PMID:25640679|PMID:25741868|PMID:25820315|PMID:25825460|PMID:26220970|PMID:26272908|PMID:26498160|PMID:26656175|PMID:26743238|PMID:26768331|PMID:27000522|PMID:27054166|PMID:27153395|PMID:27435932|PMID:27532257|PMID:27930701|PMID:28153106|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:29178656|PMID:29255176|PMID:29367541|PMID:29802319|PMID:30122538|PMID:30665703|PMID:30790397|PMID:30847666|PMID:31019283|PMID:31319917|PMID:31386562|PMID:31402444|PMID:31484862|PMID:31534214|PMID:31568572|PMID:31638835|PMID:31931689|PMID:31970460|PMID:31980526|PMID:31983221|PMID:32009526|PMID:32665702|PMID:32686758|PMID:32746448|PMID:32853555|PMID:32880476|PMID:32917565|PMID:33087929|PMID:33232181|PMID:33258288|PMID:33500567|PMID:33662488|PMID:33684294|PMID:33784018|PMID:34012068|PMID:34135346|PMID:34393635|PMID:34500006|PMID:34621001|PMID:35653365|PMID:35819174|PMID:35947370|PMID:36138163|PMID:36178741|PMID:36293497|PMID:37198425|PMID:37328711|PMID:37418234|PMID:37477868|PMID:37589201|PMID:37728764|PMID:37937776|PMID:38254962|PMID:38398418|PMID:38689299|PMID:40008663|PMID:40123482|PMID:41652012|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1319763	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:18678517|PMID:23861362|PMID:24033266|PMID:24704780|PMID:25637381|PMID:25741868|PMID:27153395|PMID:27854218|PMID:28492532
12152005	DSC2	desmocollin 2	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A | ClinVar Annotator: match by term: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31638835|PMID:31931689|PMID:33662488
12152005	DSC2	desmocollin 2	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	PMID:25741868|PMID:28492532|PMID:29253866
12152005	DSC2	desmocollin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152005	DSC2	desmocollin 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:20400443|PMID:24033266|PMID:25741868|PMID:26498160|PMID:27930701|PMID:28492532|PMID:29255176|PMID:30790397|PMID:31970460|PMID:36178741
12152005	DSC2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
12152005	DSC2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20400443|PMID:23514727|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28471438|PMID:28492532|PMID:29178656|PMID:33784018
12152005	DSC2	desmocollin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:23911551|PMID:24033266|PMID:25741868|PMID:28153106|PMID:28492532|PMID:31638835|PMID:31931689|PMID:33662488
12152005	DSC2	desmocollin 2	gene	DOID:1324	lung cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152005	DSC2	desmocollin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152005	DSC2	desmocollin 2	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1319763	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12152005	DSC2	desmocollin 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1319763	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:23861362|PMID:24832006|PMID:25741868|PMID:28492532|PMID:30371277|PMID:31397097|PMID:32268277
12152005	DSC2	desmocollin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152005	DSC2	desmocollin 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12152005	DSC2	desmocollin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152005	DSC2	desmocollin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152005	DSC2	desmocollin 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12152005	DSC2	desmocollin 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1309426	D	RGD:9068941	20230420	RGD		protein:increased expression:heart (rat)	PMID:26708424|REF_RGD_ID:264347602
12152005	DSC2	desmocollin 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1319763	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	
12152005	DSC2	desmocollin 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444|PMID:37589201
12152005	DSC2	desmocollin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152005	DSC2	desmocollin 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:25741868|PMID:27532257|PMID:28492532|PMID:29802319|PMID:31402444|PMID:37589201
12152005	DSC2	desmocollin 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1319763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12152005	DSC2	desmocollin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12152005	DSC2	desmocollin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1319763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152005	DSC2	desmocollin 2	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:1309426	D	RGD:9068941	20230420	RGD			PMID:32068187|REF_RGD_ID:267358468
12152037	SNX2	sorting nexin 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152037	SNX2	sorting nexin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152037	SNX2	sorting nexin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152037	SNX2	sorting nexin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152037	SNX2	sorting nexin 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321108	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152037	SNX2	sorting nexin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152037	SNX2	sorting nexin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152037	SNX2	sorting nexin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152037	SNX2	sorting nexin 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12152037	SNX2	sorting nexin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152037	SNX2	sorting nexin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12152037	SNX2	sorting nexin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152037	SNX2	sorting nexin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321108	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:1324	lung cancer		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152061	POLR1E	RNA polymerase I subunit E	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602318	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152077	CENPQ	centromere protein Q	gene	DOID:1115	sarcoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152077	CENPQ	centromere protein Q	gene	DOID:1324	lung cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152077	CENPQ	centromere protein Q	gene	DOID:1909	melanoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152077	CENPQ	centromere protein Q	gene	DOID:4362	cervical cancer		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152077	CENPQ	centromere protein Q	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152077	CENPQ	centromere protein Q	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344338	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152101	SLC22A6	solute carrier family 22 member 6	gene	DOID:1324	lung cancer		ISO	RGD:619572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152101	SLC22A6	solute carrier family 22 member 6	gene	DOID:182	calcinosis		ISO	RGD:619572	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12803500
12152101	SLC22A6	solute carrier family 22 member 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:619572	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:305	carcinoma		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:3275	thymoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:5041	esophageal cancer		ISO	RGD:1321217	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321217	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
12152116	URI1	URI1 prefoldin like chaperone	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1321217	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21397856
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0060058	lymphoma		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS p.D140E (rs7479004) (human)	PMID:25407497|REF_RGD_ID:153323305
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1322685	D	RGD:9068941	20230817	MouseDO		OMIM:604169	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1322684	D	RGD:7240710	20190315	OMIM			
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0070529	Sifrim-Hitz-Weiss syndrome		ISO	RGD:1322684	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CHD4-Related Disorder | ClinVar Annotator: match by term: CHD4-related disorder | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME | ClinVar Annotator: match by term: SIFRIM-HITZ-WEISS SYNDROME | ClinVar Annotator: match by term: Sifrim-Hitz-Weiss syndrome	PMID:17576681|PMID:21743468|PMID:22575888|PMID:25741868|PMID:27479907|PMID:27616479|PMID:28492532|PMID:31388190|PMID:31474762|PMID:32543371|PMID:32881470|PMID:36939041|PMID:39824190|PMID:9536098
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:0080833	laryngomalacia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:10488	imperforate anus		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1059	intellectual disability		ISO	RGD:1322684	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:10908	hydrocephalus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:11383	cryptorchidism		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral cryptorchidism	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:12270	coloboma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital ocular coloboma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:12397	entropion		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Entropion	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:12849	autistic disorder		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30559488
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:lung (human)	PMID:30031117|REF_RGD_ID:153323309
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1612	breast cancer		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:breast (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1909	melanoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1993	rectum cancer		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS p.D140E (rs7479004) (human)	PMID:25407497|REF_RGD_ID:153323305
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:1996	rectum adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:rectum (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:234	colon adenocarcinoma	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		human cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:2340	craniosynostosis		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:2526	prostate adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:decreased expression:prostate gland (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:2876	laryngeal squamous cell carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:larynx (human)	PMID:33315534|REF_RGD_ID:153323310
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:327	syringomyelia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:lung (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:lung (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		human cells in a mouse model	PMID:32228507|REF_RGD_ID:153323307
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		DNA:missense mutation:CDS:p.D140E (rs7479004) (human)	PMID:29667179|REF_RGD_ID:151660359
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:decreased expression:kidney (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:4702	mongolian spot		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1322684	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:5419	schizophrenia		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743468
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:head or neck skin (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:5723	optic atrophy		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:630	genetic disease		ISO	RGD:1322684	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:27616479|PMID:28492532|PMID:31388190|PMID:32543371|PMID:36939041|PMID:9536098
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:674	cleft palate		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		mRNA:increased expression:liver (human)	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:liver (human)	PMID:32070428|REF_RGD_ID:153323308
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		protein:increased expression:liver (human)	PMID:26095183|REF_RGD_ID:11571740
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1322684	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral vocal cord paralysis	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9001581	Constipation		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9002554	Tachycardia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachycardia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9003133	Hypertelorism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9003507	Premature Birth		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9003591	Telecanthus		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9003816	Macrocephaly		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30008631
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		associated with human colon adenocarcinoma cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9006728	Triple Negative Breast Neoplasms	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		protein:increased expression:breast (human)	PMID:29305962|REF_RGD_ID:153323306
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9007661	Dwarfism		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature | ClinVar Annotator: match by term: Short stature	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1322684	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23104009
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008214	Genu Valgum		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Genu valgum	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008811	Tachypnea		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9008965	Bronchomalacia		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Bronchomalacia	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9009121	lung metastasis	ameliorates	ISO	RGD:1322684	D	RGD:9068941	20220811	RGD		associated with human colon adenocarcinoma cells in a mouse model	PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1322684	D	RGD:9068941	20220812	RGD			PMID:28486105|REF_RGD_ID:153323299
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:1322684	D	RGD:9068941	20220812	RGD		mRNA:increased expression:lymph node (human)	PMID:29467924|REF_RGD_ID:153323304
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:930	orbital disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:936	brain disease		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy | ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9840	esotropia		ISO	RGD:1322684	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	
12152135	CHD4	chromodomain helicase DNA binding protein 4	gene	DOID:9970	obesity		ISO	RGD:1322684	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:4362	cervical cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:630	genetic disease		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9006065	Arthralgia		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9006239	Alkaptonuric Ochronosis		ISO	RGD:1318713	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alkaptonuric ochronosis	PMID:19862842|PMID:23430897|PMID:25681086|PMID:25741868|PMID:28492532
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10594001|PMID:12501223|PMID:12872836|PMID:18945288|PMID:19862842|PMID:25681086|PMID:25741868|PMID:28492532
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:7240710	20180130	OMIM			
12152193	HGD	homogentisate 1,2-dioxygenase	gene	DOID:9270	alkaptonuria		ISO	RGD:1318713	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ALKAPTONURIA | ClinVar Annotator: match by term: Alkaptonuria | ClinVar Annotator: match by term: HGD-related condition | ClinVar Annotator: match by term: Homogentisic acidura | ClinVar Annotator: match by term: alkaptonuria	PMID:1001939|PMID:10205262|PMID:10340975|PMID:10482952|PMID:10594001|PMID:10819641|PMID:10970188|PMID:11001939|PMID:11017803|PMID:12051967|PMID:12114497|PMID:12501223|PMID:12872836|PMID:14978662|PMID:15|PMID:16085442|PMID:16199547|PMID:17576681|PMID:18945288|PMID:19306858|PMID:19862842|PMID:2018|PMID:20462779|PMID:2114497|PMID:21437689|PMID:21720873|PMID:21822197|PMID:23092576|PMID:23353776|PMID:23430897|PMID:23519186|PMID:24233259|PMID:24575791|PMID:2501223|PMID:25153563|PMID:25233259|PMID:25525159|PMID:25681086|PMID:25741868|PMID:25804398|PMID:26960557|PMID:27026014|PMID:28492532|PMID:30737480|PMID:31927521|PMID:32212000|PMID:33621656|PMID:33746036|PMID:34008892|PMID:34504318|PMID:34686677|PMID:35550814|PMID:36253209|PMID:37658095|PMID:8782815|PMID:9154114|PMID:9529363|PMID:9536098|PMID:9630082|PMID:9674916
12152211	LOC478649	5-hydroxytryptamine receptor 3C-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152211	LOC478649	5-hydroxytryptamine receptor 3C-like	gene	DOID:0060058	lymphoma		ISO	RGD:1344328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:10534	stomach cancer		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:1324	lung cancer		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:3275	thymoma		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:4362	cervical cancer		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152222	NUDT13	nudix hydrolase 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349007	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152242	TYW3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152242	TYW3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152242	TYW3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12152242	TYW3	tRNA-yW synthesizing protein 3 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603913	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:3275	thymoma		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735851	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152252	PPP4R1	protein phosphatase 4 regulatory subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:735851	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0051061	stroke		ISO	RGD:1313510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0060673	Peters anomaly		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0110381	retinitis pigmentosa 14		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 14	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:7240710	20180130	OMIM			
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:0110403	retinitis pigmentosa 13		ISO	RGD:1313510	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PRPF8-related condition | ClinVar Annotator: match by term: PRPF8-related disorder | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 13 | ClinVar Annotator: match by term: Retinitis pigmentosa 13	PMID:11468273|PMID:11910553|PMID:12714658|PMID:16799052|PMID:17061239|PMID:18695108|PMID:22277662|PMID:23950152|PMID:25741868|PMID:28492532|PMID:28515276|PMID:33691693|PMID:35543142|PMID:36819107|PMID:37734845
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:10534	stomach cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:9536098
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:30718709|PMID:31725702|PMID:32531858|PMID:34906470|PMID:36909829|PMID:9536098
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa | ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:24938718|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31456290|PMID:31725702|PMID:32531858|PMID:32581362|PMID:33090715|PMID:33494148|PMID:33712029|PMID:33749171|PMID:34716235|PMID:34758253|PMID:34906470|PMID:35138024|PMID:36909829|PMID:9536098
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:11468273|PMID:12714658|PMID:16799052|PMID:17576681|PMID:21378395|PMID:25741868|PMID:28041643|PMID:28492532|PMID:28515276|PMID:29847639|PMID:30718709|PMID:31213501|PMID:31725702|PMID:32581362|PMID:33090715|PMID:34758253|PMID:34906470|PMID:36909829|PMID:9536098
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:1909	melanoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:3070	high grade glioma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:3275	thymoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:4362	cervical cancer		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1313510	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:5679	retinal disease		ISO	RGD:1313510	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:11468273|PMID:12714658|PMID:16799052|PMID:20232351|PMID:25741868|PMID:28492532|PMID:28515276|PMID:30360737
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Disorder | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532|PMID:28559085|PMID:28761320|PMID:28798898|PMID:33157387|PMID:33598457|PMID:33781268|PMID:34321860
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:630	genetic disease		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19344873|PMID:27535533|PMID:28492532
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:8501	fundus dystrophy		ISO	RGD:1313510	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11468273|PMID:16799052|PMID:17061239|PMID:18695108|PMID:20232351|PMID:21378395|PMID:23950152|PMID:24938718|PMID:25741868|PMID:28076437|PMID:28492532|PMID:28515276|PMID:28559085|PMID:28707069|PMID:28761320|PMID:28798898|PMID:30029497|PMID:31087526|PMID:32531858|PMID:33157387|PMID:33576794|PMID:33598457|PMID:33781268|PMID:34321860|PMID:34906470|PMID:3646071|PMID:36819107
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9002569	Overweight		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Overweight	PMID:25741868
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1313510	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:22039234|PMID:25741868|PMID:29087248|PMID:35543142
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1313510	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12152281	PRPF8	pre-mRNA processing factor 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313510	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:21914562|PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050758	metabolic acidosis		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060058	lymphoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060249	scoliosis		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0060641	endocrine-cerebro-osteodysplasia syndrome		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysplastic corpus callosum	PMID:12651851|PMID:19517265
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0070297	primary microcephaly		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:37688338|PMID:8598634
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0080918	polymicrogyria		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1059	intellectual disability		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:10907	microcephaly		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10679936|PMID:1293379|PMID:15384102|PMID:17043409|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:34490615|PMID:37688338|PMID:38177409|PMID:8352855|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:10908	hydrocephalus		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Hydrocephalus	PMID:10679936|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28492532|PMID:28918066|PMID:33204598|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1143	exotropia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:10679936|PMID:1293379|PMID:15384102|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:8352855|PMID:8664900|PMID:8962591|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:13620	patent foramen ovale		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent foramen ovale	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1459	hypothyroidism		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868|PMID:28492532|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1826	epilepsy		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:1827	generalized epilepsy		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868|PMID:28492532|PMID:29286531
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3275	thymoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:736556	D	RGD:7240710	20180130	OMIM			
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3649	pyruvate decarboxylase deficiency		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency | ClinVar Annotator: match by term: Pyruvate decarboxylase deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiency | ClinVar Annotator: match by term: Pyruvate dehydrogenase deficiency	PMID:10679936|PMID:10767328|PMID:1293379|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:18197404|PMID:19332025|PMID:20002461|PMID:20691944|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:23871722|PMID:24718837|PMID:25741868|PMID:26014431|PMID:26865159|PMID:26987331|PMID:27144126|PMID:27290639|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:29882371|PMID:30634555|PMID:32348839|PMID:33092611|PMID:33204598|PMID:35132535|PMID:35943828|PMID:36693417|PMID:38497591|PMID:38549004|PMID:38759022|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8598634|PMID:8844217|PMID:8962591|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:3650	lactic acidosis		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2537010
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:4362	cervical cancer		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736556	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:540	strabismus		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:543	dystonia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:17043409|PMID:20958858|PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5723	optic atrophy		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736556	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:630	genetic disease		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10375397|PMID:10679936|PMID:10767328|PMID:10872106|PMID:1293379|PMID:1301207|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21470495|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:23871722|PMID:24718837|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:27144126|PMID:28492532|PMID:28639102|PMID:28918066|PMID:29756269|PMID:29970614|PMID:32348839|PMID:33092611|PMID:33629572|PMID:33958329|PMID:34490615|PMID:35132535|PMID:35620925|PMID:37688338|PMID:38497591|PMID:39102617|PMID:39118480|PMID:7757088|PMID:7759088|PMID:7887409|PMID:7981697|PMID:8032855|PMID:8352855|PMID:8504306|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9409363|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:8398	osteoarthritis		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:8927	learning disability		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Specific learning disability	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000918	Disease Progression		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9000982	Pyruvate Dehydrogenase E1 Alpha Deficiency		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY | ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency	PMID:10375397|PMID:10486093|PMID:10567050|PMID:10679936|PMID:10767328|PMID:10775534|PMID:11102541|PMID:11241048|PMID:11757583|PMID:11870584|PMID:12163191|PMID:12227466|PMID:12379317|PMID:12551913|PMID:1293379|PMID:1301207|PMID:14635113|PMID:1508605|PMID:15384102|PMID:15473177|PMID:1551669|PMID:15558317|PMID:16199547|PMID:16256390|PMID:16412675|PMID:16552546|PMID:16713755|PMID:16967364|PMID:16981164|PMID:17043409|PMID:17576681|PMID:1770778|PMID:18023225|PMID:18197404|PMID:18273899|PMID:18398624|PMID:18504677|PMID:18559466|PMID:18692904|PMID:18709504|PMID:1907799|PMID:1909401|PMID:19517265|PMID:19639391|PMID:19852779|PMID:2000212|PMID:20002125|PMID:20002461|PMID:20462777|PMID:20691944|PMID:20958858|PMID:21454027|PMID:21470495|PMID:21723463|PMID:21812000|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:23572181|PMID:23871722|PMID:24718837|PMID:25356417|PMID:2537010|PMID:25495354|PMID:25582476|PMID:25590979|PMID:25741868|PMID:26008863|PMID:26014431|PMID:26402642|PMID:26633542|PMID:26865159|PMID:26944031|PMID:26987331|PMID:27144126|PMID:27290639|PMID:27894792|PMID:27896082|PMID:27896109|PMID:28252636|PMID:28492532|PMID:28495245|PMID:28584645|PMID:28639102|PMID:28918066|PMID:29204204|PMID:29756269|PMID:29758562|PMID:29882371|PMID:29970614|PMID:30634555|PMID:30799092|PMID:31618753|PMID:31658717|PMID:31673819|PMID:32348839|PMID:33092611|PMID:33204598|PMID:33504798|PMID:33592356|PMID:33629572|PMID:33958329|PMID:34138529|PMID:34156167|PMID:34490615|PMID:34732400|PMID:34863613|PMID:35038180|PMID:35094435|PMID:35132535|PMID:35620925|PMID:35943828|PMID:36225105|PMID:36675121|PMID:36693417|PMID:36805432|PMID:36943625|PMID:37160702|PMID:37479690|PMID:37688338|PMID:37787965|PMID:38177409|PMID:38268232|PMID:38286917|PMID:38374194|PMID:38497591|PMID:38549004|PMID:38703036|PMID:38759022|PMID:39102617|PMID:7545958|PMID:7573035|PMID:7692352|PMID:7757088|PMID:7759088|PMID:7808831|PMID:7887409|PMID:7898978|PMID:7937579|PMID:7967473|PMID:7981697|PMID:8023225|PMID:8032855|PMID:8199595|PMID:8281161|PMID:8352855|PMID:8353499|PMID:8504306|PMID:8535453|PMID:8598634|PMID:8598635|PMID:8664900|PMID:8771169|PMID:8844217|PMID:8962591|PMID:9187674|PMID:9266390|PMID:9409363|PMID:9430319|PMID:9536098|PMID:9671272|PMID:9686362
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:35943828|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881|PMID:29335542
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9002994	Pyruvate Metabolism, Inborn Errors		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2378353
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:10679936|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35620925|PMID:7887409|PMID:8032855|PMID:8962591|PMID:9409363
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:21914562|PMID:23021068|PMID:25741868|PMID:28918066|PMID:34490615|PMID:35943828|PMID:37688338|PMID:8598634
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868|PMID:28492532|PMID:38703036
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10679936|PMID:1293379|PMID:15384102|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23021068|PMID:23112753|PMID:24718837|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:33629572|PMID:33958329|PMID:34490615|PMID:35620925|PMID:35943828|PMID:37688338|PMID:38703036|PMID:7887409|PMID:8032855|PMID:8352855|PMID:8598634|PMID:8664900|PMID:8962591|PMID:9409363|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9005926	Leigh Syndrome, X-Linked		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: X-linked Leigh syndrome	PMID:10679936|PMID:10767328|PMID:15384102|PMID:16199547|PMID:16552546|PMID:16967364|PMID:20002461|PMID:20958858|PMID:21846590|PMID:21914562|PMID:23021068|PMID:24718837|PMID:25741868|PMID:27144126|PMID:27290639|PMID:28252636|PMID:28492532|PMID:28918066|PMID:29756269|PMID:32348839|PMID:35132535|PMID:36693417|PMID:38497591|PMID:7887409|PMID:7981697|PMID:8844217
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006202	Pruritus		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pruritus	PMID:25741868|PMID:28492532|PMID:38703036
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:21914562|PMID:28918066|PMID:38600369
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:10679936|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:21908116|PMID:21914562|PMID:24718837|PMID:25741868|PMID:27629047|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:35027292|PMID:36675121|PMID:8962591
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:736556	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9007661	Dwarfism		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:38177409
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10679936|PMID:15473177|PMID:16713755|PMID:1909401|PMID:20002125|PMID:20002461|PMID:20958858|PMID:21914562|PMID:22142326|PMID:23021068|PMID:24718837|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28918066|PMID:33092611|PMID:34490615|PMID:35620925|PMID:37688338|PMID:7887409|PMID:8032855|PMID:8598634|PMID:8962591|PMID:9409363
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:736556	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:10679936|PMID:1293379|PMID:15384102|PMID:20002461|PMID:21846590|PMID:21914562|PMID:22079328|PMID:22142326|PMID:23112753|PMID:25356417|PMID:25495354|PMID:25741868|PMID:26865159|PMID:28492532|PMID:28918066|PMID:33629572|PMID:33958329|PMID:8352855|PMID:8664900|PMID:8962591|PMID:9671272
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736556	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12152328	PDHA1	pyruvate dehydrogenase E1 subunit alpha 1	gene	DOID:936	brain disease		ISO	RGD:736556	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17043409|PMID:25741868
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:1324	lung cancer		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:5041	esophageal cancer		ISO	RGD:1601952	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:6039	uveal melanoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152348	MAF1	MAF1 homolog, negative regulator of RNA polymerase III	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:1115	sarcoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:1909	melanoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:3275	thymoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:4362	cervical cancer		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1342609	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342609	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152367	LAMB4	laminin subunit beta 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342609	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:7240710	20180130	OMIM			
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CHLORIDE DIARRHEA, CONGENITAL, FINNISH TYPE | ClinVar Annotator: match by term: Chloridorrhea, congenital | ClinVar Annotator: match by term: SLC26A3-related condition	PMID:10671059|PMID:10881594|PMID:11302976|PMID:11524734|PMID:12411484|PMID:12442266|PMID:16199547|PMID:18216024|PMID:18728535|PMID:18847625|PMID:19861545|PMID:21150650|PMID:21332001|PMID:21394828|PMID:21694535|PMID:21853658|PMID:22779076|PMID:23274434|PMID:23361499|PMID:23756661|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25711268|PMID:25741868|PMID:26157392|PMID:27525615|PMID:28422190|PMID:28492532|PMID:28644346|PMID:28941661|PMID:29086717|PMID:30775050|PMID:31114672|PMID:31325522|PMID:31477378|PMID:31589614|PMID:31680349|PMID:31976143|PMID:33191723|PMID:34503561|PMID:36709934|PMID:8896562|PMID:9554749|PMID:9718329|PMID:9886994
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:0060296	congenital secretory chloride diarrhea 1		ISO	RGD:1346275	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL | ClinVar Annotator: match by term: SLC26A3-related condition	PMID:11524734|PMID:16199547|PMID:21394828|PMID:25741868|PMID:28492532|PMID:28644346|PMID:31477378|PMID:9554749|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:0060320	inguinal hernia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:10301	parotitis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parotitis	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:1059	intellectual disability		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:18847625|PMID:21394828|PMID:21853658|PMID:23361499|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25741868|PMID:27525615|PMID:28492532|PMID:28644346|PMID:29086717|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:13250	diarrhea		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:12411484|PMID:18216024|PMID:19861545|PMID:21332001|PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:28644346|PMID:31976143|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:17	musculoskeletal system disease		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the musculoskeletal system	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:1826	epilepsy		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:423	myopathy		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:4500	hypokalemia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypokalemia	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:576	proteinuria		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:18847625|PMID:21394828|PMID:21853658|PMID:23361499|PMID:24033266|PMID:24350656|PMID:25568271|PMID:25741868|PMID:27525615|PMID:28492532|PMID:28644346|PMID:29086717|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:630	genetic disease		ISO	RGD:1346275	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:8437	intestinal obstruction		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Intestinal obstruction	PMID:21394828|PMID:25741868|PMID:28492532|PMID:31680349|PMID:33191723|PMID:34503561|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:8488	polyhydramnios		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:19861545|PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:31680349|PMID:31976143|PMID:33191723|PMID:34503561|PMID:8896562|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:8577	ulcerative colitis		ISO	RGD:1346275	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915573
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9000351	Diarrhea 9		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9001740	Blue Nevus		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9003507	Premature Birth		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9003816	Macrocephaly		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9004898	Jaundice		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Jaundice	PMID:19861545
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9006635	Hyponatremia		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyponatremia	PMID:21394828|PMID:24350656|PMID:25741868|PMID:28492532|PMID:31976143
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9007661	Dwarfism		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:16199547|PMID:21394828|PMID:22779076|PMID:23274434|PMID:25711268|PMID:25741868|PMID:28492532|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1346275	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:21394828|PMID:25741868|PMID:28492532|PMID:31680349|PMID:33191723|PMID:34503561|PMID:9718329
12152407	SLC26A3	solute carrier family 26 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346275	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:1909	melanoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:3275	thymoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:4362	cervical cancer		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:5041	esophageal cancer		ISO	RGD:1603219	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1603219	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1603219	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35362730
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603219	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:31116477
12152431	GATAD2A	GATA zinc finger domain containing 2A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1617228	D	RGD:9068941	20220701	RGD		DNA:missense mutation:CDS:p.N60S (mouse)	PMID:14583591|REF_RGD_ID:152998907
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1617228	D	RGD:9068941	20220701	RGD			PMID:24860162|REF_RGD_ID:152998908
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1322554	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1322554	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:15064703
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1617228	D	RGD:9068941	20220630	RGD			PMID:16862160|REF_RGD_ID:11340955
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152463	DNAI7	dynein axonemal intermediate chain 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1318503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9003701	Intellectual Developmental Disorder with Autism and Dysmorphic Facies		ISO	RGD:1318503	D	RGD:7240710	20221116	OMIM			
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9003701	Intellectual Developmental Disorder with Autism and Dysmorphic Facies		ISO	RGD:1318503	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND DYSMORPHIC FACIES | ClinVar Annotator: match by term: Intellectual developmental disorder with autism and dysmorphic facies	PMID:25741868|PMID:35227461
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152486	PDZD8	PDZ domain containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1318503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1317307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10283	prostate cancer		ISO	RGD:1317307	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:22622578|PMID:35101336
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:1909	melanoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:22622578|PMID:26359337|PMID:27993330
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:2043	hepatitis B		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)	PMID:25151370|REF_RGD_ID:151665185
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3275	thymoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:lung (human)	PMID:32537022|REF_RGD_ID:151665184
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:lung (human)	PMID:31711559|REF_RGD_ID:151665187
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4927	Klatskin's tumor	sexual_dimorphism	ISO	RGD:1317307	D	RGD:9068941	20220310	RGD		DNA:substitutions, insertion/deletions: (human)	PMID:33387086|REF_RGD_ID:126848756
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:4947	cholangiocarcinoma	sexual_dimorphism	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		DNA:substitutions, insertion/deletions: (human)	PMID:28000796|REF_RGD_ID:151665188
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317307	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317307	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:decreased expression:liver (human)	PMID:28000796|REF_RGD_ID:151665188
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317307	D	RGD:9068941	20220324	RGD		mRNA:increased expression:liver (human)	PMID:31776854|REF_RGD_ID:151665343
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		mRNA:increased expression:liver (human)	PMID:25151370|REF_RGD_ID:151665185
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1317307	D	RGD:9068941	20220317	RGD		protein:increased expression:liver (human)	PMID:28205209|REF_RGD_ID:151665186
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12152495	PREX2	phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317307	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152539	CD244	CD244 molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152539	CD244	CD244 molecule	gene	DOID:10283	prostate cancer		ISO	RGD:736436	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12152539	CD244	CD244 molecule	gene	DOID:10283	prostate cancer		ISO	RGD:736436	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12152539	CD244	CD244 molecule	gene	DOID:1324	lung cancer		ISO	RGD:736436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152539	CD244	CD244 molecule	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736436	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152539	CD244	CD244 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:736436	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152539	CD244	CD244 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736436	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RHEUMATOID ARTHRITIS, SUSCEPTIBILITY TO	
12152539	CD244	CD244 molecule	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:736436	D	RGD:7240710	20190329	OMIM			
12152539	CD244	CD244 molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736436	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152551	CFAP126	cilia and flagella associated protein 126	gene	DOID:1115	sarcoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152551	CFAP126	cilia and flagella associated protein 126	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152551	CFAP126	cilia and flagella associated protein 126	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152551	CFAP126	cilia and flagella associated protein 126	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604188	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152567	RASD1	ras related dexamethasone induced 1	gene	DOID:1324	lung cancer		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152567	RASD1	ras related dexamethasone induced 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152567	RASD1	ras related dexamethasone induced 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:731548	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12152567	RASD1	ras related dexamethasone induced 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731548	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152582	TFAP4	transcription factor AP-4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152582	TFAP4	transcription factor AP-4	gene	DOID:1909	melanoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152582	TFAP4	transcription factor AP-4	gene	DOID:3275	thymoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152582	TFAP4	transcription factor AP-4	gene	DOID:5041	esophageal cancer		ISO	RGD:1318080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152582	TFAP4	transcription factor AP-4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152582	TFAP4	transcription factor AP-4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12152582	TFAP4	transcription factor AP-4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152582	TFAP4	transcription factor AP-4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152582	TFAP4	transcription factor AP-4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152609	GNAZ	G protein subunit alpha z	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733341	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12152615	RSAD1	radical S-adenosyl methionine domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1347932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152615	RSAD1	radical S-adenosyl methionine domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152615	RSAD1	radical S-adenosyl methionine domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1347932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152615	RSAD1	radical S-adenosyl methionine domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347932	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152640	CNRIP1	cannabinoid receptor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152640	CNRIP1	cannabinoid receptor interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1318105	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152657	FGF20	fibroblast growth factor 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152657	FGF20	fibroblast growth factor 20	gene	DOID:9005509	Renal Hypodysplasia/Aplasia 2		ISO	RGD:731457	D	RGD:7240710	20180130	OMIM			
12152657	FGF20	fibroblast growth factor 20	gene	DOID:9005509	Renal Hypodysplasia/Aplasia 2		ISO	RGD:731457	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FGF20-related condition | ClinVar Annotator: match by term: Renal hypodysplasia/aplasia 2	PMID:25741868|PMID:28492532
12152657	FGF20	fibroblast growth factor 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:1115	sarcoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:1324	lung cancer		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:1909	melanoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1606271	D	RGD:9068941	20220602	RGD		associated with Chronic Hepatitis B; DNA:SNP::rs1469557(human)	PMID:27221889|REF_RGD_ID:152977752
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12152666	PINX1	PIN2 (TERF1) interacting telomerase inhibitor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606271	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152777	CEP120	centrosomal protein 120	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1601819	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12152777	CEP120	centrosomal protein 120	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:0080277	Joubert syndrome 31		ISO	RGD:1601819	D	RGD:7240710	20190315	OMIM			
12152777	CEP120	centrosomal protein 120	gene	DOID:0080277	Joubert syndrome 31		ISO	RGD:1601819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CEP120-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 31 | ClinVar Annotator: match by term: Joubert syndrome 31	PMID:17576681|PMID:25741868|PMID:27208211|PMID:28492532|PMID:9536098
12152777	CEP120	centrosomal protein 120	gene	DOID:0110093	short-rib thoracic dysplasia 13 with or without polydactyly		ISO	RGD:1601819	D	RGD:7240710	20180130	OMIM			
12152777	CEP120	centrosomal protein 120	gene	DOID:0110093	short-rib thoracic dysplasia 13 with or without polydactyly		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 13 with or without polydactyly	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:25251415|PMID:25361962|PMID:25741868|PMID:27208211|PMID:28492532|PMID:29847808|PMID:30866059|PMID:30988386|PMID:9536098
12152777	CEP120	centrosomal protein 120	gene	DOID:10488	imperforate anus		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Imperforate anus	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:10534	stomach cancer		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:1115	sarcoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis	PMID:25741868|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:1657	ventricular septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:1909	melanoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:3275	thymoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:4362	cervical cancer		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152777	CEP120	centrosomal protein 120	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:5041	esophageal cancer		ISO	RGD:1601819	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:630	genetic disease		ISO	RGD:1601819	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:674	cleft palate		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152777	CEP120	centrosomal protein 120	gene	DOID:8488	polyhydramnios		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9003133	Hypertelorism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9004507	Hirsutism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9005616	Micrognathism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25251415|PMID:25741868|PMID:27208211|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152777	CEP120	centrosomal protein 120	gene	DOID:9007661	Dwarfism		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12152777	CEP120	centrosomal protein 120	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152777	CEP120	centrosomal protein 120	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601819	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344343	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:27799064|PMID:28492532|PMID:34620555
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0060249	scoliosis		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0111488	combined oxidative phosphorylation deficiency 31		ISO	RGD:1344343	D	RGD:7240710	20190315	OMIM			
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:0111488	combined oxidative phosphorylation deficiency 31		ISO	RGD:1344343	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 31 | ClinVar Annotator: match by term: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome | ClinVar Annotator: match by term: MIPEP-related condition	PMID:16199547|PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123|PMID:34620555
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:10534	stomach cancer		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:10907	microcephaly		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:11963	esophagitis		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esophagitis	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:12835	quadriplegia		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetraplegia	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:1324	lung cancer		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:13620	patent foramen ovale		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:1826	epilepsy		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:1969	cerebral palsy		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:3070	high grade glioma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:4362	cervical cancer		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:480	movement disease		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:543	dystonia		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:630	genetic disease		ISO	RGD:1344343	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:769	neuroblastoma		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuroblastoma	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:811	lipodystrophy		ISO	RGD:732556	D	RGD:9068941	20250605	MouseDO			
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9001581	Constipation		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:24033266|PMID:25741868|PMID:26762739|PMID:27799064|PMID:28492532|PMID:33587123|PMID:34620555
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	PMID:25741868|PMID:27799064
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:936	brain disease		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:24033266|PMID:25741868|PMID:26762739|PMID:28492532|PMID:33587123
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12152812	MIPEP	mitochondrial intermediate peptidase	gene	DOID:9840	esotropia		ISO	RGD:1344343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:27799064
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:10534	stomach cancer		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:1115	sarcoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:1324	lung cancer		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:1909	melanoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:4362	cervical cancer		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:25741868
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152843	EVI5	ecotropic viral integration site 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152893	DYRK2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152893	DYRK2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152893	DYRK2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152893	DYRK2	dual specificity tyrosine phosphorylation regulated kinase 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1323814	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27793025
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:0060058	lymphoma		ISO	RGD:1344093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs3129882) (human)	PMID:21791235|REF_RGD_ID:5490156
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:11716	prediabetes syndrome		ISO	RGD:1593283	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spleen, lymphocyte	PMID:3142800|REF_RGD_ID:5147592
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:1205	allergic disease		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:9104792|REF_RGD_ID:5490205
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1344093	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28771573
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		associated with Burns	PMID:17568330|REF_RGD_ID:5490160
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:14115	toxic shock syndrome	disease_progression	ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:15644645|REF_RGD_ID:5490203
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:14330	Parkinson's disease		ISO	RGD:1344093	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711177
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs3129882) (human)	PMID:20711177|REF_RGD_ID:5490158
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344093	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17660530
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:c.*406+228A>G (rs3135388) (human)	PMID:19834503|REF_RGD_ID:5490202
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:17660530|REF_RGD_ID:5490159
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2377	multiple sclerosis		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter (human)	PMID:10527398|REF_RGD_ID:5490204
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:20159242|REF_RGD_ID:13506913
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:2945	severe acute respiratory syndrome	disease_progression	ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:19635508|REF_RGD_ID:5490168
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:3312	bipolar disorder		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:16687443|REF_RGD_ID:5490162
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:21427211|REF_RGD_ID:5490157
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:7188	autoimmune thyroiditis		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:12126634|REF_RGD_ID:5147805
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1593283	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1344093	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1344093	D	RGD:9068941	20200609	RGD			PMID:8676084|REF_RGD_ID:5490166
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:9006961	Asthma and Nasal Polyps	susceptibility	ISO	RGD:1344093	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:introns:	PMID:22391069|REF_RGD_ID:13506908
12152913	DLA-DRA	MHC class II DR alpha chain	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1558302	D	RGD:9068941	20200609	RGD			PMID:11812739|REF_RGD_ID:5490164
12152927	ZNF777	zinc finger protein 777	gene	DOID:10534	stomach cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12152927	ZNF777	zinc finger protein 777	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12152927	ZNF777	zinc finger protein 777	gene	DOID:1324	lung cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152927	ZNF777	zinc finger protein 777	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152927	ZNF777	zinc finger protein 777	gene	DOID:3275	thymoma		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152927	ZNF777	zinc finger protein 777	gene	DOID:4362	cervical cancer		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152927	ZNF777	zinc finger protein 777	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1602628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:1324	lung cancer		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:3275	thymoma		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:4362	cervical cancer		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:5041	esophageal cancer		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1602628	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602628	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12152942	SPATA21	spermatogenesis associated 21	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12152975	BEX4	brain expressed X-linked 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152975	BEX4	brain expressed X-linked 4	gene	DOID:1115	sarcoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152975	BEX4	brain expressed X-linked 4	gene	DOID:13580	cholestasis		ISO	RGD:1352390	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12152975	BEX4	brain expressed X-linked 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152975	BEX4	brain expressed X-linked 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:1115	sarcoma		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:1909	melanoma		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:5041	esophageal cancer		ISO	RGD:1605285	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152986	LOC608729	heterogeneous nuclear ribonucleoprotein A1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605285	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:0080600	COVID-19		ISO	RGD:1601879	D	RGD:9068941	20200626	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:1909	melanoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:289	endometriosis		ISO	RGD:1601879	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:5041	esophageal cancer		ISO	RGD:1601879	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12152996	TMT1A	thiol methyltransferase 1A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601879	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:3275	thymoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153003	SLC48A1	solute carrier family 48 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604345	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153010	MTERF4	mitochondrial transcription termination factor 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153010	MTERF4	mitochondrial transcription termination factor 4	gene	DOID:1115	sarcoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153010	MTERF4	mitochondrial transcription termination factor 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602073	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:0060058	lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:10534	stomach cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:1115	sarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:1324	lung cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer | ClinVar Annotator: match by term: Lung cancer, somatic	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:1909	melanoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:2394	ovarian cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:3275	thymoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:4362	cervical cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1606811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606811	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	PMID:25741868
12153018	ACOT9	acyl-CoA thioesterase 9	gene	DOID:9256	colorectal cancer		ISO	RGD:1606811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:12140	Chagas disease		ISO	RGD:733234	D	RGD:9068941	20200609	RGD			PMID:9148906|REF_RGD_ID:5509585
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:12143	neurogenic bladder		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20624991
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733234	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23408450|PMID:24033266|PMID:28166811|PMID:28492532
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733234	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23408450|PMID:24033266|PMID:28492532
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733234	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:1470	major depressive disorder		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:1890A>T (human)	PMID:12116189|REF_RGD_ID:1358507
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:1470	major depressive disorder		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:19103464|REF_RGD_ID:5509584
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:1508	candidiasis		ISO	RGD:1552578	D	RGD:9068941	20200609	RGD			PMID:19958780|REF_RGD_ID:5509581
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:1596	depressive disorder		ISO	RGD:620023	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:20830301|REF_RGD_ID:5509587
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:1826	epilepsy		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18333967
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:2841	asthma		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs6962027 (human)	PMID:19308904|REF_RGD_ID:5509586
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:303	substance-related disorder		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20393457
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:3312	bipolar disorder		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs324650 (human)	PMID:20351719|REF_RGD_ID:5509579
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:3312	bipolar disorder		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex	PMID:19103464|REF_RGD_ID:5509584
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:5419	schizophrenia		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs324651) (human)	PMID:20691427|REF_RGD_ID:5509574
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18603373
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9007001	Bradycardia		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11181912
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20624991
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:733234	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18603373
12153060	CHRM2	cholinergic receptor muscarinic 2	gene	DOID:9976	heroin dependence		ISO	RGD:733234	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2350780 (human)	PMID:19500151|REF_RGD_ID:5509583
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:1909	melanoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153069	ARFIP1	ADP ribosylation factor interacting protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:0060353	acrofacial dysostosis Cincinnati type		ISO	RGD:1345694	D	RGD:7240710	20180130	OMIM			
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:0060353	acrofacial dysostosis Cincinnati type		ISO	RGD:1345694	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE | ClinVar Annotator: match by term: Acrofacial dysostosis Cincinnati type | ClinVar Annotator: match by term: POLR1A-related condition	PMID:17576681|PMID:25741868|PMID:25913037|PMID:28051070|PMID:28492532|PMID:36917474|PMID:37075751|PMID:9536098
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:0070039	NESCAV syndrome		ISO	RGD:1345694	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 9	PMID:25741868
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:10534	stomach cancer		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:1115	sarcoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:1909	melanoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:4258	Weissenbacher-Zweymuller syndrome		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Robin sequence	PMID:25741868
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:4362	cervical cancer		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:5041	esophageal cancer		ISO	RGD:1345694	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:630	genetic disease		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24153182|PMID:25741868|PMID:28492532|PMID:8910400
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9007661	Dwarfism		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9008918	Hypomyelinating Leukodystrophy 27		ISO	RGD:1345694	D	RGD:7240710	20240124	OMIM			
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9008918	Hypomyelinating Leukodystrophy 27		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukodystrophy, hypomyelinating, 27	PMID:25741868|PMID:25913037|PMID:28051070|PMID:36917474|PMID:37075751
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153117	POLR1A	RNA polymerase I subunit A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345694	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:0080064	autosomal recessive spinocerebellar ataxia 17		ISO	RGD:1312323	D	RGD:7240710	20180130	OMIM			
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:0080064	autosomal recessive spinocerebellar ataxia 17		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 17 | ClinVar Annotator: match by term: CWF19L1-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	PMID:25361784|PMID:25741868|PMID:26197978|PMID:27016154|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:10534	stomach cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:1059	intellectual disability		ISO	RGD:1312323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual Disability	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:1115	sarcoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:3070	high grade glioma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:5041	esophageal cancer		ISO	RGD:1312323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:6039	uveal melanoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:630	genetic disease		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1312323	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9004866	Ataxia		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: truncal ataxia	PMID:25741868
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12153158	CWF19L1	CWF19 like 1, cell cycle control	gene	DOID:9256	colorectal cancer		ISO	RGD:1312323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:1115	sarcoma		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:1324	lung cancer		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:1612	breast cancer	severity	ISO	RGD:734116	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, cytosol (human)	PMID:15448007|REF_RGD_ID:8547748
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:1793	pancreatic cancer		ISO	RGD:734116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:1909	melanoma		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:2394	ovarian cancer		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ovarian cancer	PMID:25741868
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:734116	D	RGD:9068941	20200609	RGD			PMID:11605729|REF_RGD_ID:1579979
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:5041	esophageal cancer		ISO	RGD:734116	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734116	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:734116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21291860
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:9008138	Ductal Carcinoma		ISO	RGD:734116	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29295717
12153185	BCAR1	BCAR1 scaffold protein, Cas family member	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153202	CIMIP2A	ciliary microtubule inner protein 2A	gene	DOID:2394	ovarian cancer		ISO	RGD:1603805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12153202	CIMIP2A	ciliary microtubule inner protein 2A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603805	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153219	TMEM269	transmembrane protein 269	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153219	TMEM269	transmembrane protein 269	gene	DOID:4362	cervical cancer		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153219	TMEM269	transmembrane protein 269	gene	DOID:5041	esophageal cancer		ISO	RGD:11563379	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153219	TMEM269	transmembrane protein 269	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153219	TMEM269	transmembrane protein 269	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:11563379	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12153237	SCAP	SREBF chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153237	SCAP	SREBF chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153237	SCAP	SREBF chaperone	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153237	SCAP	SREBF chaperone	gene	DOID:1115	sarcoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153237	SCAP	SREBF chaperone	gene	DOID:1324	lung cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153237	SCAP	SREBF chaperone	gene	DOID:1909	melanoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153237	SCAP	SREBF chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153237	SCAP	SREBF chaperone	gene	DOID:3070	high grade glioma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12153237	SCAP	SREBF chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153237	SCAP	SREBF chaperone	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12153237	SCAP	SREBF chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153237	SCAP	SREBF chaperone	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604827	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563831
12153237	SCAP	SREBF chaperone	gene	DOID:783	end stage renal disease	multiple interactions	ISO	RGD:1309378	D	RGD:9068941	20230914	RGD			PMID:19878707|REF_RGD_ID:2326081
12153237	SCAP	SREBF chaperone	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1309378	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:16741953|REF_RGD_ID:1581819
12153237	SCAP	SREBF chaperone	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1309378	D	RGD:9068941	20200609	RGD			PMID:20973890|REF_RGD_ID:5490977
12153237	SCAP	SREBF chaperone	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153237	SCAP	SREBF chaperone	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153237	SCAP	SREBF chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1604827	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12153264	KRT71	keratin 71	gene	DOID:0110710	hypotrichosis 13		ISO	RGD:1604251	D	RGD:7240710	20181226	OMIM			
12153264	KRT71	keratin 71	gene	DOID:0110710	hypotrichosis 13		ISO	RGD:1604251	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotrichosis 13 | ClinVar Annotator: match by term: KRT71-related condition	PMID:25741868|PMID:28492532
12153264	KRT71	keratin 71	gene	DOID:305	carcinoma		ISO	RGD:1604251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12153264	KRT71	keratin 71	gene	DOID:4362	cervical cancer		ISO	RGD:1604251	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153264	KRT71	keratin 71	gene	DOID:4535	hypotrichosis		ISO	RGD:1604251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12153264	KRT71	keratin 71	gene	DOID:5041	esophageal cancer		ISO	RGD:1604251	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153264	KRT71	keratin 71	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1604251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12153264	KRT71	keratin 71	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1604251	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12153264	KRT71	keratin 71	gene	DOID:987	alopecia		ISO	RGD:1584538	D	RGD:9068941	20211022	RGD		DNA:deletion:cds:intron 1, p.Val149_Gln154 del	PMID:20179389|REF_RGD_ID:11570415
12153275	UBXN10	UBX domain protein 10	gene	DOID:10534	stomach cancer		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153275	UBXN10	UBX domain protein 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153275	UBXN10	UBX domain protein 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318044	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12153306	ISLR	immunoglobulin superfamily containing leucine rich repeat	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153306	ISLR	immunoglobulin superfamily containing leucine rich repeat	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1602010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321774	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:3275	thymoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153322	DHRS2	dehydrogenase/reductase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321774	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:0111643	autosomal recessive nonsyndromic deafness 115		ISO	RGD:1625643	D	RGD:7240710	20211222	OMIM			
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:0111643	autosomal recessive nonsyndromic deafness 115		ISO	RGD:1625643	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 115 | ClinVar Annotator: match by term: Hearing loss, autosomal recessive 115 | ClinVar Annotator: match by term: SPNS2-related condition | ClinVar Annotator: match by term: hearing loss, autosomal recessive 115	PMID:25356849|PMID:25741868|PMID:28492532|PMID:30973865
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1625643	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:10534	stomach cancer		ISO	RGD:1625643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:1909	melanoma		ISO	RGD:1625643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:5041	esophageal cancer		ISO	RGD:1625643	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1625643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1625643	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:9004538	Hearing Loss		ISO	RGD:1625643	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30311386
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1625643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153341	SPNS2	SPNS lysolipid transporter 2, sphingosine-1-phosphate	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1625643	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1322257	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:1909	melanoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:3275	thymoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1322257	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153375	PUM2	pumilio RNA binding family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322257	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153418	DUSP26	dual specificity phosphatase 26	gene	DOID:3275	thymoma		ISO	RGD:1604602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153418	DUSP26	dual specificity phosphatase 26	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1604602	D	RGD:9068941	20250724	RGD		mRNA:decreased expression:lung	PMID:34517527|REF_RGD_ID:617256321
12153418	DUSP26	dual specificity phosphatase 26	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153425	MRPL17	mitochondrial ribosomal protein L17	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153425	MRPL17	mitochondrial ribosomal protein L17	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153425	MRPL17	mitochondrial ribosomal protein L17	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351017	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:0060981	mosaic variegated aneuploidy syndrome 4		ISO	RGD:1602413	D	RGD:7240710	20221228	OMIM			
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:0060981	mosaic variegated aneuploidy syndrome 4		ISO	RGD:1602413	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 4	PMID:25741868
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:1115	sarcoma		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:1909	melanoma		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:4362	cervical cancer		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153432	CENATAC	centrosomal AT-AC splicing factor	gene	DOID:9256	colorectal cancer		ISO	RGD:1602413	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:23380860|PMID:24033266|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30096381|PMID:30303587|PMID:30718709
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17174357|PMID:17407589|PMID:18665195|PMID:20095043|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:26969326|PMID:27440999|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29907799|PMID:30096381|PMID:30303587|PMID:30718709|PMID:33095980|PMID:9760205
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome | ClinVar Annotator: match by term: Usher's syndrome	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16199547|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24154662|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:32581362|PMID:34391192|PMID:34426522|PMID:38219857
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050439	Usher syndrome	treatment	ISO	RGD:1604645	D	RGD:9068941	20200609	RGD			PMID:23380860|REF_RGD_ID:8695937
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0070655	Usher syndrome type 1B		ISO	RGD:1604645	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1604645	D	RGD:7240710	20180130	OMIM			
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110473	autosomal recessive nonsyndromic deafness 18A		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18A | ClinVar Annotator: match by term: Deafness, autosomal recessive 18A | ClinVar Annotator: match by term: USH1C-related condition	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:20095043|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21436283|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25333064|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32581362|PMID:38219857|PMID:9536098
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24154662|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:34391192|PMID:34426522
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110826	Usher syndrome type 1	onset	ISO	RGD:1604645	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:c.1220delG(human)	PMID:23251578|REF_RGD_ID:8695919
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110827	Usher syndrome type 2		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 2	PMID:25741868
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:7240710	20180130	OMIM			
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Usher syndrome type 1C	PMID:10973247|PMID:10973248|PMID:11139240|PMID:11239869|PMID:11810303|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:15578223|PMID:15660226|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17174357|PMID:17407589|PMID:17576681|PMID:18665195|PMID:19297620|PMID:20095043|PMID:20142502|PMID:20146813|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21436283|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25262649|PMID:25333064|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26467025|PMID:26969326|PMID:27208204|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29276601|PMID:29625443|PMID:29739340|PMID:29907799|PMID:30096381|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:32467589|PMID:9536098|PMID:9760205
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:0110830	Usher syndrome type 1C		ISO	RGD:1604645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: USHER SYNDROME, TYPE I, ACADIAN VARIETY | ClinVar Annotator: match by term: USHER SYNDROME, TYPE IC | ClinVar Annotator: match by term: Usher syndrome type 1C | ClinVar Annotator: match by term: Usher syndrome, type 1C	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16199547|PMID:16679490|PMID:16963483|PMID:17407589|PMID:17576681|PMID:19297620|PMID:20142502|PMID:20301442|PMID:20613545|PMID:20671281|PMID:21203349|PMID:21487335|PMID:21569298|PMID:22135276|PMID:22219650|PMID:22581970|PMID:23251578|PMID:23967202|PMID:24033266|PMID:24154662|PMID:24416283|PMID:24498627|PMID:24618850|PMID:24875298|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25560255|PMID:25741868|PMID:25788563|PMID:26445815|PMID:26969326|PMID:27440999|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29490346|PMID:29625443|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762|PMID:31964843|PMID:32036094|PMID:32467589|PMID:32581362|PMID:32747562|PMID:33095980|PMID:33231815|PMID:33724713|PMID:33781268|PMID:34148116|PMID:34391192|PMID:34426522|PMID:36011334|PMID:36284460|PMID:38219857|PMID:9536098
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Congenital sensorineural hearing impairment	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:10534	stomach cancer		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:27460420|PMID:28492532
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:25741868|PMID:26969326|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:1324	lung cancer		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:2841	asthma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:3070	high grade glioma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	PMID:25741868
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:5041	esophageal cancer		ISO	RGD:1604645	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:27460420|PMID:28492532
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:5723	optic atrophy		ISO	RGD:1604645	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:630	genetic disease		ISO	RGD:1604645	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12136232|PMID:12630964|PMID:12702164|PMID:16963483|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24875298|PMID:25741868|PMID:26969326|PMID:27208204|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29739340|PMID:30245029|PMID:30303587|PMID:30718709|PMID:34391192|PMID:34426522
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9004538	Hearing Loss		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hearing impairment | ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive | ClinVar Annotator: match by term: hearing loss	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:16199547|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25356976|PMID:25468891|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27460420|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:29625443|PMID:30303587|PMID:30311386|PMID:30718709|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9005581	Autosomal Recessive Nonsyndromic Deafness 18		ISO	RGD:1604645	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 18 | ClinVar Annotator: match by term: Deafness, autosomal recessive 18	PMID:10973247|PMID:10973248|PMID:11139240|PMID:12107438|PMID:12630964|PMID:12702164|PMID:16199547|PMID:17407589|PMID:20301442|PMID:20613545|PMID:21203349|PMID:21569298|PMID:22135276|PMID:24033266|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:26969326|PMID:27743452|PMID:27957503|PMID:28041643|PMID:28492532|PMID:30303587|PMID:30718709|PMID:31858762|PMID:32581362|PMID:38219857
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:24033266|PMID:25741868
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9849	Meniere's disease		ISO	RGD:1604645	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:12136232|PMID:16963483|PMID:24033266|PMID:24875298|PMID:25741868|PMID:28492532|PMID:29739340|PMID:30245029|PMID:34391192|PMID:34426522
12153450	USH1C	USH1 protein network component harmonin	gene	DOID:9970	obesity		ISO	RGD:1604645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10973247|PMID:11139240|PMID:16199547|PMID:17407589|PMID:20301442|PMID:21203349|PMID:22135276|PMID:24416283|PMID:24498627|PMID:25525159|PMID:25741868|PMID:27743452|PMID:28492532|PMID:31858762
12153481	UNC119B	unc-119 lipid binding chaperone B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153481	UNC119B	unc-119 lipid binding chaperone B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345863	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1617167	D	RGD:9068941	20220825	MouseDO			
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:1115	sarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:1909	melanoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:3070	high grade glioma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:3275	thymoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:5041	esophageal cancer		ISO	RGD:1319995	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319995	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153490	TMPRSS9	transmembrane serine protease 9	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319995	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:0050450	Gitelman syndrome		ISO	RGD:1557765	D	RGD:9068941	20220825	MouseDO		OMIM:263800	
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:16199547|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:10763	hypertension		ISO	RGD:1353270	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:10763	hypertension		ISO	RGD:1353270	D	RGD:9068941	20200609	RGD			PMID:15110905|REF_RGD_ID:1580830
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:10763	hypertension	no_association	ISO	RGD:631401	D	RGD:9068941	20200609	RGD			PMID:12642508|REF_RGD_ID:629611
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:1909	melanoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:224	transient cerebral ischemia		ISO	RGD:631401	D	RGD:9068941	20200609	RGD			PMID:27798271|REF_RGD_ID:14398833
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:3275	thymoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:4362	cervical cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1353270	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:22949526
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1353270	D	RGD:9068941	20260521	RGD			PMID:11498583|REF_RGD_ID:1580828
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:1557765	D	RGD:9068941	20260521	MouseDO			
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1353270	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:630	genetic disease		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:65	connective tissue disease		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:9006551	Pseudohypoaldosteronism, Type IIB		ISO	RGD:1353270	D	RGD:7240710	20180130	OMIM			
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:9006551	Pseudohypoaldosteronism, Type IIB		ISO	RGD:1353270	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: PSEUDOHYPOALDOSTERONISM, TYPE IIB | ClinVar Annotator: match by term: Pseudohypoaldosteronism type 2B | ClinVar Annotator: match by term: WNK4-related condition	PMID:11498583|PMID:21236712|PMID:24641320|PMID:25741868|PMID:27461219|PMID:28492532|PMID:30773290
12153513	VPS25	vacuolar protein sorting 25 homolog	gene	DOID:9256	colorectal cancer		ISO	RGD:1353270	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12153549	ZNF398	zinc finger protein 398	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153549	ZNF398	zinc finger protein 398	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:0110651	long QT syndrome 10		ISO	RGD:735494	D	RGD:7240710	20180130	OMIM			
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:0110651	long QT syndrome 10		ISO	RGD:735494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LONG QT SYNDROME 10 | ClinVar Annotator: match by term: Long QT syndrome 10 | ClinVar Annotator: match by term: SCN4B-related condition	PMID:16199547|PMID:17576681|PMID:20226894|PMID:23174487|PMID:23465283|PMID:23631430|PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:30821358|PMID:30847666|PMID:31043699|PMID:31737537|PMID:9536098
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735494	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:1324	lung cancer		ISO	RGD:735494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:9002990	Familial Atrial Fibrillation 17		ISO	RGD:735494	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, FAMILIAL, 17	
12153564	SCN4B	sodium voltage-gated channel beta subunit 4	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:735494	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME	PMID:20226894|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532|PMID:30821358|PMID:31043699
12153573	B2M	beta-2-microglobulin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153573	B2M	beta-2-microglobulin	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:735892	D	RGD:9068941	20200609	RGD			PMID:20015205|REF_RGD_ID:6482693
12153573	B2M	beta-2-microglobulin	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7688627
12153573	B2M	beta-2-microglobulin	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
12153573	B2M	beta-2-microglobulin	gene	DOID:0050830	peripheral artery disease	severity	ISO	RGD:735892	D	RGD:9068941	20200609	RGD			PMID:21314441|REF_RGD_ID:6482704
12153573	B2M	beta-2-microglobulin	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:735892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial	
12153573	B2M	beta-2-microglobulin	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:10224	D	RGD:9068941	20200609	RGD		associated with Herpesviridae Infections	PMID:16282467|REF_RGD_ID:6483039
12153573	B2M	beta-2-microglobulin	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with kidney transplantation	PMID:9067691|REF_RGD_ID:6482705
12153573	B2M	beta-2-microglobulin	gene	DOID:0111981	immunodeficiency 43		ISO	RGD:735892	D	RGD:7240710	20180130	OMIM			
12153573	B2M	beta-2-microglobulin	gene	DOID:0111981	immunodeficiency 43		ISO	RGD:735892	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypoproteinemia, hypercatabolic | ClinVar Annotator: match by term: IMMUNODEFICIENCY 43	PMID:16199547|PMID:16549777|PMID:25702838|PMID:25741868|PMID:28492532
12153573	B2M	beta-2-microglobulin	gene	DOID:10534	stomach cancer		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153573	B2M	beta-2-microglobulin	gene	DOID:10763	hypertension		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15957539|REF_RGD_ID:1601306
12153573	B2M	beta-2-microglobulin	gene	DOID:114	heart disease		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
12153573	B2M	beta-2-microglobulin	gene	DOID:11400	pyelonephritis		ISO	RGD:2189	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:21797109|REF_RGD_ID:6482315
12153573	B2M	beta-2-microglobulin	gene	DOID:1389	polyneuropathy		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
12153573	B2M	beta-2-microglobulin	gene	DOID:14330	Parkinson's disease		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:corpus striatum	PMID:7605592|REF_RGD_ID:6482706
12153573	B2M	beta-2-microglobulin	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:12958308|PMID:15661905|PMID:35101336
12153573	B2M	beta-2-microglobulin	gene	DOID:1909	melanoma		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153573	B2M	beta-2-microglobulin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153573	B2M	beta-2-microglobulin	gene	DOID:2349	arteriosclerosis		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with Kidney Diseases	PMID:16221094|REF_RGD_ID:2311212
12153573	B2M	beta-2-microglobulin	gene	DOID:2352	hemochromatosis		ISO	RGD:10224	D	RGD:9068941	20220825	MouseDO		OMIM:231100	
12153573	B2M	beta-2-microglobulin	gene	DOID:3021	acute kidney failure		ISO	RGD:2189	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19536607|REF_RGD_ID:6482685
12153573	B2M	beta-2-microglobulin	gene	DOID:3021	acute kidney failure		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22005293|PMID:2689182|PMID:28885000
12153573	B2M	beta-2-microglobulin	gene	DOID:3407	carotid artery disease	disease_progression	ISO	RGD:735892	D	RGD:9068941	20200609	RGD			PMID:21546482|REF_RGD_ID:6482703
12153573	B2M	beta-2-microglobulin	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12153573	B2M	beta-2-microglobulin	gene	DOID:417	autoimmune disease		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21793797
12153573	B2M	beta-2-microglobulin	gene	DOID:417	autoimmune disease		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with Leukemia, lymphocyte, chronic-B-cell; protein:increased expression:urine	PMID:17214095|REF_RGD_ID:6482731
12153573	B2M	beta-2-microglobulin	gene	DOID:4362	cervical cancer		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153573	B2M	beta-2-microglobulin	gene	DOID:5199	ureteral obstruction		ISO	RGD:2189	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19536607|REF_RGD_ID:6482685
12153573	B2M	beta-2-microglobulin	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:735892	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Small cell lung cancer | ClinVar Annotator: match by term: Small cell lung carcinoma	PMID:26619011
12153573	B2M	beta-2-microglobulin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735892	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Head and neck squamous cell carcinoma | ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:26619011
12153573	B2M	beta-2-microglobulin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12153573	B2M	beta-2-microglobulin	gene	DOID:557	kidney disease		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17303580|PMID:2202081|PMID:24863737
12153573	B2M	beta-2-microglobulin	gene	DOID:576	proteinuria		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:17634209|REF_RGD_ID:2311211
12153573	B2M	beta-2-microglobulin	gene	DOID:576	proteinuria		ISO	RGD:735892	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:33857584
12153573	B2M	beta-2-microglobulin	gene	DOID:630	genetic disease		ISO	RGD:735892	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12153573	B2M	beta-2-microglobulin	gene	DOID:640	encephalomyelitis		ISO	RGD:10224	D	RGD:9068941	20200609	RGD		associated with Theilovirus infection	PMID:22335434|REF_RGD_ID:6482701
12153573	B2M	beta-2-microglobulin	gene	DOID:640	encephalomyelitis		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with Measles; protein:increased expression:cerebrospinal fluid	PMID:1402029|REF_RGD_ID:6482707
12153573	B2M	beta-2-microglobulin	gene	DOID:784	chronic kidney disease		ISO	RGD:735892	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:37921072
12153573	B2M	beta-2-microglobulin	gene	DOID:83	cataract		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathies	PMID:12567748|REF_RGD_ID:2311237
12153573	B2M	beta-2-microglobulin	gene	DOID:848	arthritis		ISO	RGD:735892	D	RGD:9068941	20200609	RGD			PMID:16575857|REF_RGD_ID:6482692
12153573	B2M	beta-2-microglobulin	gene	DOID:8622	measles		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:1402029|REF_RGD_ID:6482707
12153573	B2M	beta-2-microglobulin	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with infant, premature;protein:increased expression:urine	PMID:19527385|REF_RGD_ID:6482709
12153573	B2M	beta-2-microglobulin	gene	DOID:9000380	Spondylarthritis		ISO	RGD:735892	D	RGD:9068941	20200609	RGD			PMID:16575857|REF_RGD_ID:6482692
12153573	B2M	beta-2-microglobulin	gene	DOID:9001542	Albuminuria		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		associated with HIV infections;protein:increased expression:urine	PMID:18469311|REF_RGD_ID:6482713
12153573	B2M	beta-2-microglobulin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2189	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:18777138|REF_RGD_ID:6482712
12153573	B2M	beta-2-microglobulin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17404077
12153573	B2M	beta-2-microglobulin	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18795399|REF_RGD_ID:6482710
12153573	B2M	beta-2-microglobulin	gene	DOID:9002513	Hypoproteinemia	susceptibility	ISO	RGD:735892	D	RGD:9068941	20200609	RGD		DNA:transversion:exon;913G>C	PMID:16549777|REF_RGD_ID:1599429
12153573	B2M	beta-2-microglobulin	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10224	D	RGD:9068941	20200609	RGD			PMID:15837577|REF_RGD_ID:6482690
12153573	B2M	beta-2-microglobulin	gene	DOID:9005358	Hypergammaglobulinemia		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21793797
12153573	B2M	beta-2-microglobulin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735892	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28885000
12153573	B2M	beta-2-microglobulin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153573	B2M	beta-2-microglobulin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15127324|REF_RGD_ID:2311236
12153573	B2M	beta-2-microglobulin	gene	DOID:9538	multiple myeloma		ISO	RGD:735892	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myelomatosis	PMID:26619011
12153573	B2M	beta-2-microglobulin	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10224	D	RGD:9068941	20200609	RGD			PMID:11572996|PMID:15446308|REF_RGD_ID:2311235|REF_RGD_ID:2311238
12153573	B2M	beta-2-microglobulin	gene	DOID:9970	obesity		ISO	RGD:735892	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:15517379|REF_RGD_ID:1601309
12153584	UQCC5	ubiquinol-cytochrome c reductase complex assembly factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060058	lymphoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1606763	D	RGD:7240710	20180130	OMIM			
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:0060793	hypomyelinating leukodystrophy 5		ISO	RGD:1606763	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYCC1-related condition | ClinVar Annotator: match by term: Hypomyelination and Congenital Cataract | ClinVar Annotator: match by term: LEUKODYSTROPHY, HYPOMYELINATING, 5 | ClinVar Annotator: match by term: hypomyelinating leukodystrophy 5	PMID:16199547|PMID:16951682|PMID:17576681|PMID:17683097|PMID:17928815|PMID:21911699|PMID:22749724|PMID:23998934|PMID:25741868|PMID:26571211|PMID:28492532|PMID:32148946|PMID:34192786|PMID:9536098
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:1059	intellectual disability		ISO	RGD:1606763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:303	substance-related disorder		ISO	RGD:1606763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:607	paraplegia		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:9000986	Selective Tooth Agenesis, X-Linked, 1		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1	PMID:16951682|PMID:20301737|PMID:21911699|PMID:25741868
12153642	HYCC1	hyccin PI4KA lipid kinase complex subunit 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606763	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
12153674	CTSF	cathepsin F	gene	DOID:0110727	neuronal ceroid lipofuscinosis 13		ISO	RGD:1317809	D	RGD:7240710	20180130	OMIM			
12153674	CTSF	cathepsin F	gene	DOID:0110727	neuronal ceroid lipofuscinosis 13		ISO	RGD:1317809	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 13 (KUFS TYPE) | ClinVar Annotator: match by term: CTSF-related condition | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13 | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 13, Kufs type | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 13	PMID:16199547|PMID:17576681|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:27524508|PMID:28492532|PMID:29120254|PMID:31345219|PMID:31692161|PMID:34269512|PMID:36435927|PMID:9536098
12153674	CTSF	cathepsin F	gene	DOID:1324	lung cancer		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153674	CTSF	cathepsin F	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:16199547|PMID:23297359|PMID:25274848|PMID:25741868|PMID:28492532|PMID:31345219|PMID:31692161|PMID:34269512
12153674	CTSF	cathepsin F	gene	DOID:1909	melanoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153674	CTSF	cathepsin F	gene	DOID:4362	cervical cancer		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153674	CTSF	cathepsin F	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12153674	CTSF	cathepsin F	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153674	CTSF	cathepsin F	gene	DOID:5041	esophageal cancer		ISO	RGD:1317809	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153674	CTSF	cathepsin F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153674	CTSF	cathepsin F	gene	DOID:630	genetic disease		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:23297359|PMID:25274848|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31345219|PMID:31692161|PMID:34269512
12153674	CTSF	cathepsin F	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12153674	CTSF	cathepsin F	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317809	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12153674	CTSF	cathepsin F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317809	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153674	CTSF	cathepsin F	gene	DOID:9008582	Developmental Disease		ISO	RGD:1317809	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:7240710	20200101	OMIM			
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1319162	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure 16	PMID:25741868
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319162	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:25741868
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:14450	46 XX gonadal dysgenesis		ISO	RGD:1319162	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: 46 XX gonadal dysgenesis	PMID:25741868
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1319162	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12153695	BNC1	basonuclin zinc finger protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319162	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153704	PDAP1	PDGFA associated protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:733658	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153704	PDAP1	PDGFA associated protein 1	gene	DOID:3070	high grade glioma	severity	ISO	RGD:733658	D	RGD:9068941	20200609	RGD			PMID:27448842|REF_RGD_ID:13702895
12153704	PDAP1	PDGFA associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153704	PDAP1	PDGFA associated protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153728	HSF5	heat shock transcription factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604244	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153738	LUZP2	leucine zipper protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:7240710	20190315	OMIM			
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:0051033	primary autosomal recessive microcephaly 22		ISO	RGD:1603696	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Microcephaly 22, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPD3-related condition	PMID:25741868|PMID:28492532
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:10534	stomach cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:1059	intellectual disability		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:1115	sarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:1324	lung cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:1909	melanoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:3275	thymoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:4362	cervical cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:5041	esophageal cancer		ISO	RGD:1603696	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153754	NCAPD3	non-SMC condensin II complex subunit D3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603696	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:0051064	left ventricular failure		ISO	RGD:737223	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34310909
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:0081292	traumatic brain injury		ISO	RGD:3651	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:10283	prostate cancer	ameliorates	ISO	RGD:737223	D	RGD:9068941	20220429	RGD		human cells in mouse model	PMID:30537000|REF_RGD_ID:152025215
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:10534	stomach cancer		ISO	RGD:737223	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:11664	nephrosclerosis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30818366
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:11713	diabetic angiopathy	susceptibility	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Diabetic Foot;DNA:polymorphism:3' utr (human)	PMID:16723689|REF_RGD_ID:2306558
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:737223	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: therapeutic	PMID:34310909
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:1790	malignant mesothelioma		ISO	RGD:737223	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:1824	status epilepticus		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19054393|REF_RGD_ID:2306568
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus:	PMID:24924806|REF_RGD_ID:11352662
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:2316	brain ischemia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:18206136|REF_RGD_ID:2306577
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:2596	larynx cancer	exacerbates	ISO	RGD:737223	D	RGD:9068941	20220512	RGD		protein:increased expression: mucosa of larynx (human)	PMID:23259294|REF_RGD_ID:152177474
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:2723	dermatitis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27206134
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:326	ischemia		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18227068
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:3393	coronary artery disease		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:3459	breast carcinoma	susceptibility	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism (human)	PMID:15978329|REF_RGD_ID:2317609
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:3892	insulinoma		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:19013212|REF_RGD_ID:2317608
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737223	D	RGD:9068941	20230128	RGD		mRNA:decreased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:17557270|REF_RGD_ID:2306579
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737223	D	RGD:7240710	20230505	OMIM			
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CXCL12-related condition	PMID:25741868
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:5844	myocardial infarction		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:19187644|REF_RGD_ID:2306567
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:5844	myocardial infarction		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:11820456|REF_RGD_ID:632503
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19363144|PMID:28284560
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:824	periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD			PMID:18454663|REF_RGD_ID:2306575
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:vitreous humor	PMID:15630447|REF_RGD_ID:2306559
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:737223	D	RGD:9068941	20220422	RGD		associated with stomach cancer;mRNA:increased expression:stomach (human)	PMID:21633638|REF_RGD_ID:152023624
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000641	Pain		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:11438578|REF_RGD_ID:2306307
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:11280	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:17950070|REF_RGD_ID:2306556
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21312072|PMID:23743303
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms	PMID:12761880|REF_RGD_ID:2317610
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		associated with Pancreatic Carcinoma	PMID:26330165|REF_RGD_ID:10398726
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20731768
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ligament	PMID:19327017|REF_RGD_ID:2306564
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9002138	Spinal Cord Reperfusion Injury		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:27760212|REF_RGD_ID:12910551
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9002211	Hyperalgesia		ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:28638088|REF_RGD_ID:13838657
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17785557
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9002801	Recurrence		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22607768
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18709383|REF_RGD_ID:2306570
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19700239|PMID:25231984|PMID:25753200
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9004994	Embryo Loss		ISO	RGD:11280	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent	PMID:18384776|REF_RGD_ID:2306554
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:11280	D	RGD:9068941	20200609	RGD			PMID:17878289|REF_RGD_ID:2306557
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3651	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18201529|REF_RGD_ID:2306555
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:737223	D	RGD:9068941	20220421	RGD		associated with colorectal cancer; human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9008763	Femoral Fractures	treatment	ISO	RGD:3651	D	RGD:9068941	20200609	RGD			PMID:25181476|REF_RGD_ID:11352664
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737223	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18521742
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737223	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18451752|REF_RGD_ID:2306553
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:11280	D	RGD:9068941	20200609	RGD			PMID:12383202|REF_RGD_ID:2306562
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	no_association	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr (human)	PMID:14679085|REF_RGD_ID:2306561
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:11280	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow	PMID:18793419|REF_RGD_ID:2301942
12153803	CXCL12	C-X-C motif chemokine ligand 12	gene	DOID:9744	type 1 diabetes mellitus	onset	ISO	RGD:737223	D	RGD:9068941	20200609	RGD		DNA:polymorphism:3' utr (human)	PMID:11334429|PMID:14522095|REF_RGD_ID:2306560|REF_RGD_ID:2306563
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:1115	sarcoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:1324	lung cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604823	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:1909	melanoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:303	substance-related disorder		ISO	RGD:1604823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:3070	high grade glioma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:3275	thymoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604823	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604823	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153812	LIMCH1	LIM and calponin homology domains 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1604823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:736747	D	RGD:9068941	20250130	RGD		protein:increased expression:oral epithelium	PMID:30981761|REF_RGD_ID:597538586
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736747	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29718361
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:0080855	Parkinsonism		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25045800
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:10534	stomach cancer		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:1115	sarcoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:1793	pancreatic cancer		ISO	RGD:736747	D	RGD:9068941	20200609	RGD		protein:decreased expression:pancreas	PMID:19216797|REF_RGD_ID:2325688
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:1909	melanoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:409	liver disease		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31651977
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:4362	cervical cancer		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736747	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:5041	esophageal cancer		ISO	RGD:736747	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736747	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:736747	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26783756|PMID:29626521
12153861	ALDH1A1	aldehyde dehydrogenase 1 family member A1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736747	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153878	RNF141	ring finger protein 141	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153878	RNF141	ring finger protein 141	gene	DOID:3275	thymoma		ISO	RGD:1350770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153878	RNF141	ring finger protein 141	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350770	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153903	PARVA	parvin alpha	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153903	PARVA	parvin alpha	gene	DOID:1909	melanoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153903	PARVA	parvin alpha	gene	DOID:303	substance-related disorder		ISO	RGD:1352322	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12153903	PARVA	parvin alpha	gene	DOID:3275	thymoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153903	PARVA	parvin alpha	gene	DOID:4362	cervical cancer		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153903	PARVA	parvin alpha	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153903	PARVA	parvin alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153903	PARVA	parvin alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:0070751	mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis, with or without seizures		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	PMID:24680887|PMID:25741868|PMID:28492532|PMID:29057815
12153918	KIZ	kizuna centrosomal protein	gene	DOID:0110410	retinitis pigmentosa 69		ISO	RGD:1316045	D	RGD:7240710	20180130	OMIM			
12153918	KIZ	kizuna centrosomal protein	gene	DOID:0110410	retinitis pigmentosa 69		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KIZ-related condition | ClinVar Annotator: match by term: KIZ-related retinopathy | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 69 | ClinVar Annotator: match by term: Retinitis pigmentosa 69	PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671
12153918	KIZ	kizuna centrosomal protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1316045	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Recessive | ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:24680887|PMID:25741868|PMID:28166811|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31556760|PMID:32052671
12153918	KIZ	kizuna centrosomal protein	gene	DOID:1115	sarcoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:1324	lung cancer		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:5041	esophageal cancer		ISO	RGD:1316045	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:24680887|PMID:25741868|PMID:28492532|PMID:28837078|PMID:29057815|PMID:31370859|PMID:32052671|PMID:32531858
12153918	KIZ	kizuna centrosomal protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153918	KIZ	kizuna centrosomal protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735678	D	RGD:9068941	20230323	RGD			PMID:26029872|REF_RGD_ID:158014899
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:10534	stomach cancer		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:735678	D	RGD:9068941	20220825	MouseDO			
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:1324	lung cancer		ISO	RGD:735677	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (human)	PMID:10567404|REF_RGD_ID:9590137
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:1612	breast cancer		ISO	RGD:735677	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (human)	PMID:10567404|REF_RGD_ID:9590137
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:1909	melanoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:219	colon cancer		ISO	RGD:735677	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (human)	PMID:10567404|REF_RGD_ID:9590137
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:289	endometriosis		ISO	RGD:735677	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:3275	thymoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:4362	cervical cancer		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:5041	esophageal cancer		ISO	RGD:735677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153936	NCOA6	nuclear receptor coactivator 6	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620111	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet (rat)	PMID:16738321|REF_RGD_ID:9590126
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0060249	scoliosis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:28492532|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:736788	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM	PMID:25326637|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:736788	D	RGD:7240710	20190315	OMIM			
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0080726	Ehlers-Danlos syndrome classic type 2		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COL5A2-related condition | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 2 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 2	PMID:11668615|PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28132693|PMID:28492532|PMID:2855059|PMID:28550590|PMID:29543232|PMID:31847883|PMID:33161638|PMID:33726816|PMID:33974636|PMID:34265140|PMID:35830949|PMID:35885981|PMID:36580209|PMID:37079061|PMID:38534782|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome arthrochalasia type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:17576681|PMID:25326637|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0080727	Ehlers-Danlos syndrome arthrochalasia type 1		ISO	RGD:736788	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	PMID:17576681|PMID:25741868|PMID:28087566|PMID:28492532|PMID:30467950|PMID:33161638|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:10126	keratoconus		ISO	RGD:736788	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:10763	hypertension		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertension	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1115	sarcoma		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:16199547|PMID:23587214|PMID:25741868|PMID:28492532|PMID:31538843
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:12176	goiter		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Goiter	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:13141	uveitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveitis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:736788	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1324	lung cancer		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:13359	Ehlers-Danlos syndrome		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome	PMID:11940702|PMID:17576681|PMID:25741868|PMID:28492532|PMID:33161638|PMID:33726816|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:33161638|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30919572|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:37079061|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, thoracic | ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33161638|PMID:33974636|PMID:34265140|PMID:37079061|PMID:38534782|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Isolated thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysm and aortic dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33974636|PMID:34265140|PMID:35753512|PMID:37079061|PMID:38534782|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26566670|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33974636|PMID:34265140|PMID:35753512|PMID:36580209|PMID:37079061|PMID:38534782|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm or dissection | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28213671|PMID:28492532|PMID:28991257|PMID:30675029|PMID:30919572|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33974636|PMID:34265140|PMID:36011280|PMID:37079061|PMID:38534782|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dilatation of the sinus of Valsalva | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28213671|PMID:28492532|PMID:28991257|PMID:30675029|PMID:30919572|PMID:33082984|PMID:33726816|PMID:33974636|PMID:34265140|PMID:36580209|PMID:37079061|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm | ClinVar Annotator: match by term: Thoracic aortic aneurysms and aortic dissections | ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	PMID:11940702|PMID:16199547|PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:26608033|PMID:28213671|PMID:28492532|PMID:28991257|PMID:30675029|PMID:30919572|PMID:31538843|PMID:31847883|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33974636|PMID:34265140|PMID:36580209|PMID:37079061|PMID:38534782|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14323	Marfan syndrome		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Marfan syndrome	PMID:25741868|PMID:28492532|PMID:28991257|PMID:31829210
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:28132693|PMID:28166811|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:31903434|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28166811|PMID:28213671|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31829210|PMID:31847883|PMID:31903434|PMID:33161638|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:33161638|PMID:33834621|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:31517854|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:37079061|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25326637|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:35753512|PMID:37079061|PMID:38534782|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:15580559|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20648054|PMID:20847697|PMID:22696272|PMID:23587214|PMID:24033266|PMID:24922459|PMID:25741868|PMID:26188975|PMID:26566670|PMID:26608033|PMID:27011056|PMID:28087566|PMID:28132693|PMID:28213671|PMID:28485813|PMID:28492532|PMID:2855059|PMID:28550590|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30467950|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31829210|PMID:31847883|PMID:31903434|PMID:32235935|PMID:32381727|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35128800|PMID:35753512|PMID:36580209|PMID:37079061|PMID:38534782|PMID:7695699|PMID:8218237|PMID:9425231|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20847697|PMID:22696272|PMID:23587214|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28213671|PMID:28485813|PMID:28492532|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30675029|PMID:30919572|PMID:31517854|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35000503|PMID:35128800|PMID:35830949|PMID:36011280|PMID:37079061|PMID:38534782|PMID:39762984|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20847697|PMID:22696272|PMID:23587214|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28213671|PMID:28485813|PMID:28492532|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30675029|PMID:30919572|PMID:31517854|PMID:32736638|PMID:33082984|PMID:33726816|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35000503|PMID:35128800|PMID:35830949|PMID:36580209|PMID:37079061|PMID:39762984|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:736788	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: EDS I | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1 | ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, GRAVIS TYPE | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1 | ClinVar Annotator: match by term: Ehlers-Danlos syndrome, type 1	PMID:11940702|PMID:16199547|PMID:17576681|PMID:19344236|PMID:20301422|PMID:20847697|PMID:22696272|PMID:23587214|PMID:25741868|PMID:26188975|PMID:26608033|PMID:27011056|PMID:28213671|PMID:28485813|PMID:28492532|PMID:28855619|PMID:28991257|PMID:29543232|PMID:30675029|PMID:30919572|PMID:31517854|PMID:31538843|PMID:31847883|PMID:32736638|PMID:33082984|PMID:33161638|PMID:33726816|PMID:33834621|PMID:33974636|PMID:34265140|PMID:35000503|PMID:35128800|PMID:35830949|PMID:36580209|PMID:37079061|PMID:38534782|PMID:39762984|PMID:7695699|PMID:8218237|PMID:9536098|PMID:9783710
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1787	pericarditis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pericarditis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1826	epilepsy		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:1909	melanoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:2355	anemia		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:3144	cutis laxa		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cutis laxa	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:3275	thymoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary fibrosis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:736788	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:5082	liver cirrhosis		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26396155
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:520	aortic disease		ISO	RGD:736788	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Aortopathy	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:65	connective tissue disease		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:17576681|PMID:25741868|PMID:28213671|PMID:28492532|PMID:33726816|PMID:33974636|PMID:37079061|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:820	myocarditis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myocarditis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:850	lung disease		ISO	RGD:736788	D	RGD:9068941	20231102	RGD		mRNA:increased expression:lung (human)	PMID:37731513|REF_RGD_ID:401851918
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:870	neuropathy		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9000058	Keloid		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Keloid formation	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9000442	Familial Thoracic Aortic Aneurysm 10		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 10	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9001581	Constipation		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9001665	Aneurysm		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aneurysm	PMID:28492532|PMID:29543232|PMID:35753512
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:736788	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9003591	Telecanthus		ISO	RGD:736788	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:17576681|PMID:20847697|PMID:23587214|PMID:25741868|PMID:28492532|PMID:9536098
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9007573	Flatfoot		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868|PMID:28492532
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736788	D	RGD:9068941	20200609	RGD		DNA:splicing error	PMID:16431952|REF_RGD_ID:1600694
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9471	meningitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9588	encephalitis		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalitis	PMID:25741868
12153964	COL5A2	collagen type V alpha 2 chain	gene	DOID:9993	hypoglycemia		ISO	RGD:736788	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Reactive hypoglycemia	PMID:25741868
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1315796	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20683989
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:0080486	peroxisome biogenesis disorder 12A		ISO	RGD:1315796	D	RGD:7240710	20180130	OMIM			
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:0080486	peroxisome biogenesis disorder 12A		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER) | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger)	PMID:10051604|PMID:16199547|PMID:17576681|PMID:20683989|PMID:21031596|PMID:25741868|PMID:28281558|PMID:28492532|PMID:30561787|PMID:32552793|PMID:9536098
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:10534	stomach cancer		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:1909	melanoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:630	genetic disease		ISO	RGD:1315796	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315796	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:10051604
12154022	PEX19	peroxisomal biogenesis factor 19	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315796	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:4362	cervical cancer		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1316267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316267	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154034	LRRC28	leucine rich repeat containing 28	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:1909	melanoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:4362	cervical cancer		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733552	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154049	PJA2	praja ring finger ubiquitin ligase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733552	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154064	NOP16	NOP16 nucleolar protein	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1605076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12154064	NOP16	NOP16 nucleolar protein	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1605076	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1606334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15964507
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:3275	thymoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606334	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:9007661	Dwarfism	treatment	ISO	RGD:1557217	D	RGD:9068941	20251030	RGD			PMID:24285747|REF_RGD_ID:629006517
12154073	LOC479912	glutathione S-transferase Mu 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1606334	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:1115	sarcoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:1324	lung cancer		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:3275	thymoma		ISO	RGD:1351524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351524	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351524	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154085	MIA2	MIA SH3 domain ER export factor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351524	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154141	RILP	Rab interacting lysosomal protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154141	RILP	Rab interacting lysosomal protein	gene	DOID:1909	melanoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154141	RILP	Rab interacting lysosomal protein	gene	DOID:4362	cervical cancer		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154141	RILP	Rab interacting lysosomal protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0050539	Charcot-Marie-Tooth disease type 2		ISO	RGD:1348839	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	PMID:25741868|PMID:30192042
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0110661	congenital myasthenic syndrome 20		ISO	RGD:1348839	D	RGD:7240710	20190315	OMIM			
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0110661	congenital myasthenic syndrome 20		ISO	RGD:1348839	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 20 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 20, presynaptic | ClinVar Annotator: match by term: SLC5A7-related condition	PMID:15173594|PMID:16199547|PMID:17576681|PMID:22941189|PMID:23141292|PMID:25741868|PMID:27569547|PMID:28492532|PMID:36611016|PMID:36840359|PMID:39135055|PMID:9536098
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7		ISO	RGD:1348839	D	RGD:7240710	20180130	OMIM			
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7		ISO	RGD:1348839	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VIIA | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, autosomal dominant 7 | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type viia	PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:33250374|PMID:36703223|PMID:36840359|PMID:9536098
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:10283	prostate cancer		ISO	RGD:1348839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:10283	prostate cancer		ISO	RGD:1348839	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:12377	spinal muscular atrophy		ISO	RGD:1348839	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal spinal muscular atrophy	PMID:28492532
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:1470	major depressive disorder		ISO	RGD:1348839	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:habenula:	PMID:28420875|REF_RGD_ID:151347550
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:1596	depressive disorder		ISO	RGD:1348839	D	RGD:9068941	20220128	RGD		mRNA:decreased expression:habenula:	PMID:28420875|REF_RGD_ID:151347550
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:2841	asthma		ISO	RGD:69270	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung	PMID:17328924|REF_RGD_ID:5686690
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:3635	congenital myasthenic syndrome		ISO	RGD:1348839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:630	genetic disease		ISO	RGD:1348839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:27569547|PMID:28492532|PMID:36840359|PMID:9536098
12154154	SLC5A7	solute carrier family 5 member 7	gene	DOID:9004283	Transplant Rejection		ISO	RGD:69270	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney, mononuclear cell	PMID:19201987|REF_RGD_ID:9999387
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:0110343	osteogenesis imperfecta type 14		ISO	RGD:1347417	D	RGD:7240710	20180130	OMIM			
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:0110343	osteogenesis imperfecta type 14		ISO	RGD:1347417	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type 14 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiv | ClinVar Annotator: match by term: TMEM38B-related condition	PMID:17611541|PMID:23054245|PMID:25741868|PMID:26911354|PMID:28492532
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1347417	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:24835313|PMID:25741868|PMID:27441836|PMID:28492532|PMID:32123938
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:3275	thymoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:4362	cervical cancer		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:630	genetic disease		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347417	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12154167	TMEM38B	transmembrane protein 38B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347417	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:0060058	lymphoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:4362	cervical cancer		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:5041	esophageal cancer		ISO	RGD:3516342	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12154181	ARHGEF33	Rho guanine nucleotide exchange factor 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:3516342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:0080078	hypophosphatemic nephrolithiasis/osteoporosis 2		ISO	RGD:1342625	D	RGD:7240710	20180130	OMIM			
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:0080078	hypophosphatemic nephrolithiasis/osteoporosis 2		ISO	RGD:1342625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 2 | ClinVar Annotator: match by term: NHERF1-related condition	PMID:18784102|PMID:24033266|PMID:25296721|PMID:25741868|PMID:28492532|PMID:28893421|PMID:30180840|PMID:30476936|PMID:30755392|PMID:30863428|PMID:31672324|PMID:32723786|PMID:34426522|PMID:37432176|PMID:39333051|PMID:40794449
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:0080655	hypophosphatemic nephrolithiasis/osteoporosis		ISO	RGD:1342625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: dominant hypophosphatemia with nephrolithiasis or osteoporosis	PMID:25741868|PMID:28492532
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:10763	hypertension		ISO	RGD:708538	D	RGD:9068941	20200609	RGD			PMID:15311100|REF_RGD_ID:1580741
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:13730	malignant renovascular hypertension	treatment	ISO	RGD:708538	D	RGD:9068941	20251120	RGD			PMID:23402556|REF_RGD_ID:629006714
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:1909	melanoma		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1342625	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28235801
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:576	proteinuria		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:630	genetic disease		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:783	end stage renal disease		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: End-stage renal disease	PMID:25741868|PMID:28492532
12154201	NHERF1	NHERF family PDZ scaffold protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12154211	CA11	carbonic anhydrase 11	gene	DOID:0080600	COVID-19		ISO	RGD:1348503	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12154211	CA11	carbonic anhydrase 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154211	CA11	carbonic anhydrase 11	gene	DOID:3070	high grade glioma		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12154211	CA11	carbonic anhydrase 11	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12154211	CA11	carbonic anhydrase 11	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12154211	CA11	carbonic anhydrase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154211	CA11	carbonic anhydrase 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154211	CA11	carbonic anhydrase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154211	CA11	carbonic anhydrase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348503	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:1909	melanoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:2394	ovarian cancer		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154224	SACM1L	SAC1 like phosphatidylinositide phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733012	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154248	PLTP	phospholipid transfer protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12154248	PLTP	phospholipid transfer protein	gene	DOID:10140	dry eye syndrome		ISO	RGD:1315461	D	RGD:9068941	20220825	MouseDO			
12154248	PLTP	phospholipid transfer protein	gene	DOID:1936	atherosclerosis		ISO	RGD:1315460	D	RGD:9068941	20200609	RGD		protein:increased expression:coronary artery (human)	PMID:12835223|REF_RGD_ID:1581039
12154248	PLTP	phospholipid transfer protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154248	PLTP	phospholipid transfer protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12154248	PLTP	phospholipid transfer protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154248	PLTP	phospholipid transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154248	PLTP	phospholipid transfer protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154248	PLTP	phospholipid transfer protein	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1315460	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:14695459|REF_RGD_ID:1581038
12154248	PLTP	phospholipid transfer protein	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12154248	PLTP	phospholipid transfer protein	gene	DOID:9003370	Dyslipidemias		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952847
12154248	PLTP	phospholipid transfer protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
12154248	PLTP	phospholipid transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315460	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154248	PLTP	phospholipid transfer protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1315460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12754275
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:10534	stomach cancer		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:1115	sarcoma		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:1324	lung cancer		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:14330	Parkinson's disease		ISO	RGD:736199	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:303	substance-related disorder		ISO	RGD:736199	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:4362	cervical cancer		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154270	ADARB2	adenosine deaminase RNA specific B2 (inactive)	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736199	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:0060058	lymphoma		ISO	RGD:69157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:2225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver, kidney, pancreas	PMID:9712737|REF_RGD_ID:2289078
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:1324	lung cancer		ISO	RGD:69157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:69157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:1612	breast cancer		ISO	RGD:69157	D	RGD:9068941	20200609	RGD		protein:decreased expression:breast, nucleus	PMID:16849553|REF_RGD_ID:2289068
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:2316	brain ischemia		ISO	RGD:2225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:forebrain (rat)	PMID:7684483|REF_RGD_ID:2289081
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69157	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:14996721|REF_RGD_ID:2289069
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:69157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18393292
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:69157	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:11470758|REF_RGD_ID:2289070
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9001341	Chloracne		ISO	RGD:69157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17101203
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69157	D	RGD:9068941	20200609	RGD		protein:decreased expression:prostate gland	PMID:11470758|REF_RGD_ID:2289070
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:9712737|REF_RGD_ID:2289078
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9004922	Spinal Cord Ischemia		ISO	RGD:2225	D	RGD:9068941	20200609	RGD			PMID:14697320|REF_RGD_ID:2289074
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:69157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154286	BTG2	BTG anti-proliferation factor 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2225	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:12909328|REF_RGD_ID:2289075
12154292	FBXO33	F-box protein 33	gene	DOID:10534	stomach cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154292	FBXO33	F-box protein 33	gene	DOID:1324	lung cancer		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154292	FBXO33	F-box protein 33	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154292	FBXO33	F-box protein 33	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154292	FBXO33	F-box protein 33	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154292	FBXO33	F-box protein 33	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154292	FBXO33	F-box protein 33	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154300	SYT16	synaptotagmin 16	gene	DOID:1909	melanoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154300	SYT16	synaptotagmin 16	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346455	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:1909	melanoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350504	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350504	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154314	SLC43A2	solute carrier family 43 member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350504	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154353	CAPN10	calpain 10	gene	DOID:10534	stomach cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154353	CAPN10	calpain 10	gene	DOID:1059	intellectual disability		ISO	RGD:732443	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12154353	CAPN10	calpain 10	gene	DOID:10965	spastic diplegia		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic diplegia	
12154353	CAPN10	calpain 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154353	CAPN10	calpain 10	gene	DOID:1115	sarcoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154353	CAPN10	calpain 10	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:732443	D	RGD:9068941	20260521	RGD		DNA:SNPs	PMID:17106059|REF_RGD_ID:1625046
12154353	CAPN10	calpain 10	gene	DOID:1324	lung cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154353	CAPN10	calpain 10	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3792267 (human)	PMID:20178008|REF_RGD_ID:4107073
12154353	CAPN10	calpain 10	gene	DOID:1909	melanoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154353	CAPN10	calpain 10	gene	DOID:1969	cerebral palsy		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	
12154353	CAPN10	calpain 10	gene	DOID:4362	cervical cancer		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154353	CAPN10	calpain 10	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154353	CAPN10	calpain 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154353	CAPN10	calpain 10	gene	DOID:630	genetic disease		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12154353	CAPN10	calpain 10	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:22012129|REF_RGD_ID:7247733
12154353	CAPN10	calpain 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12154353	CAPN10	calpain 10	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney cortex	PMID:22568896|REF_RGD_ID:7247732
12154353	CAPN10	calpain 10	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16546286|REF_RGD_ID:1625050
12154353	CAPN10	calpain 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154353	CAPN10	calpain 10	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:732443	D	RGD:7240710	20180130	OMIM			
12154353	CAPN10	calpain 10	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:732443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAPN10-related condition | ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, 1 | ClinVar Annotator: match by term: TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO	PMID:11017071|PMID:16721485|PMID:25741868|PMID:25773692|PMID:28492532
12154353	CAPN10	calpain 10	gene	DOID:9007692	Insulin Resistance		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3792267 (human)	PMID:11018080|REF_RGD_ID:7247736
12154353	CAPN10	calpain 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:14658759|REF_RGD_ID:737693
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69354	D	RGD:9068941	20200609	RGD		mRNA:decreased expression	PMID:14646187|REF_RGD_ID:1625063
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349674
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs2975760 (human)	PMID:18554168|REF_RGD_ID:7247735
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:16721485|REF_RGD_ID:1625049
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		associated with Hypertension;DNA:SNPs:intron:rs3792267, rs2975760 (human)	PMID:20406624|REF_RGD_ID:7247734
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:19688040|REF_RGD_ID:4107074
12154353	CAPN10	calpain 10	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736979	D	RGD:9068941	20200609	RGD			PMID:22012129|REF_RGD_ID:7247733
12154353	CAPN10	calpain 10	gene	DOID:9970	obesity		ISO	RGD:732443	D	RGD:9068941	20200609	RGD		DNA:SNPs	PMID:16752174|REF_RGD_ID:1625047
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:0051065	chronic pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic pancreatitis | ClinVar Annotator: match by term: PANCREATITIS, CHRONIC | ClinVar Annotator: match by term: Pancreatitis, chronic, susceptibility to	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:28994706|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1350719	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: NEPHROTIC SYNDROME, TYPE 1	PMID:10691414|PMID:10835640|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:20433692|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:27535533|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:0080390	nephrotic syndrome type 1		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Finnish congenital nephrotic syndrome	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland, serum	PMID:17306443|REF_RGD_ID:2300382
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:urinary bladder	PMID:16327984|REF_RGD_ID:2300384
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:1116	pertussis		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Whooping cough	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:11830	myopia		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17003641|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:21610753|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25792561|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:1596	depressive disorder		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Depression	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:1350719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19896093
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:2152	ovary epithelial cancer	disease_progression	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD			PMID:15269150|REF_RGD_ID:2300386
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:15963628|REF_RGD_ID:2300385
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:289	endometriosis	disease_progression	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:8988701|REF_RGD_ID:2300390
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:3702	cervical adenocarcinoma		ISO	RGD:1350719	D	RGD:9068941	20200609	RGD			PMID:2258083|REF_RGD_ID:2300391
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350719	D	RGD:9068941	20250927	RGD		protein:increased expression:serum,pleural effusion	PMID:36194314|REF_RGD_ID:628359289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney	PMID:10508484|REF_RGD_ID:2300388
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1350719	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11176522|REF_RGD_ID:2300387
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:4989	pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pancreatitis	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:1350719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17003641|PMID:21610753|PMID:25741868|PMID:25792561|PMID:28492532|PMID:28556356|PMID:28687971
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9000977	Halitosis		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Halitosis	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9001027	Tropical Calcific Pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TROPICAL CALCIFIC PANCREATITIS | ClinVar Annotator: match by term: Tropical pancreatitis	PMID:10691414|PMID:10835640|PMID:11265669|PMID:11938439|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17003641|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:25792561|PMID:28492532|PMID:28502372|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:33515547|PMID:34828289|PMID:35974416
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9001027	Tropical Calcific Pancreatitis	susceptibility	ISO	RGD:1350719	D	RGD:7240710	20260812	OMIM			
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1350719	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25735316
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9004150	Lymphadenopathy		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphadenopathy	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9005372	Inflammation		ISO	RGD:3749	D	RGD:9068941	20200609	RGD		protein:increased expression,increased secretion:liver,serum	PMID:7526044|REF_RGD_ID:10043093
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9005729	Chronic Experimental Pancreatitis		ISO	RGD:3749	D	RGD:9068941	20200609	RGD		protein:increased secretion:pancreatic juice:	PMID:12123090|REF_RGD_ID:10044261
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9005729	Chronic Experimental Pancreatitis	treatment	ISO	RGD:3749	D	RGD:9068941	20200609	RGD			PMID:19904222|PMID:22173919|REF_RGD_ID:10043091|REF_RGD_ID:10044253
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:13487787	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9007558	Acute Experimental Pancreatitis	treatment	ISO	RGD:3749	D	RGD:9068941	20200609	RGD			PMID:15765407|REF_RGD_ID:10043090
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1350719	D	RGD:9068941	20200609	RGD			PMID:9891532|REF_RGD_ID:2300389
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:10691414|PMID:10835640|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:16885867|PMID:17204147|PMID:17466744|PMID:17525091|PMID:17568390|PMID:18286680|PMID:18414673|PMID:18617776|PMID:19299380|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:22427236|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25741868|PMID:28492532|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28984793|PMID:34828289
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11355022|PMID:11938439|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12853682|PMID:14722925|PMID:1613792|PMID:16885867|PMID:17003641|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24217635|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:26348468|PMID:26719302|PMID:27171515|PMID:27535533|PMID:28320769|PMID:28440306|PMID:28492532|PMID:28502372|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:30420730|PMID:31391146|PMID:31628023|PMID:33097431|PMID:33515547|PMID:34828289|PMID:34923708|PMID:3501289|PMID:35171259|PMID:35974416|PMID:37149461|PMID:38414044|PMID:9536098
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10835640|PMID:10982753|PMID:11265669|PMID:11938439|PMID:14722925|PMID:15980664|PMID:1613792|PMID:16849362|PMID:17003641|PMID:17274009|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18570327|PMID:18580441|PMID:1870127|PMID:18978175|PMID:19372376|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22749696|PMID:23017645|PMID:23741238|PMID:24217635|PMID:24909264|PMID:25383785|PMID:25741868|PMID:25792561|PMID:25927356|PMID:26348468|PMID:26632706|PMID:26719302|PMID:27171515|PMID:27578509|PMID:28320769|PMID:28440306|PMID:28492532|PMID:28502372|PMID:28546060|PMID:28556356|PMID:28687971|PMID:28994706|PMID:29521951|PMID:30420730|PMID:31391146|PMID:31401021|PMID:31628023|PMID:33097431|PMID:33515547|PMID:34923708|PMID:3501289|PMID:35171259|PMID:35974416|PMID:37149461|PMID:38414044|PMID:9536098
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9008999	Hereditary Pancreatitis		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary chronic pancreatitis | ClinVar Annotator: match by term: Hereditary pancreatitis	PMID:10691414|PMID:10835640|PMID:10982753|PMID:11265669|PMID:11938439|PMID:11950815|PMID:12011155|PMID:12187509|PMID:12483248|PMID:12629264|PMID:12743777|PMID:12825076|PMID:12853682|PMID:14722925|PMID:1613792|PMID:16885867|PMID:17003641|PMID:17204147|PMID:17274009|PMID:17466744|PMID:17525091|PMID:17568390|PMID:17576681|PMID:17681820|PMID:18172691|PMID:18286680|PMID:18414673|PMID:18570327|PMID:18580441|PMID:18617776|PMID:1870127|PMID:19299380|PMID:19372376|PMID:19453252|PMID:19565042|PMID:19888199|PMID:21303407|PMID:21375584|PMID:21610753|PMID:21952138|PMID:22094894|PMID:22343981|PMID:22427236|PMID:22526274|PMID:22572128|PMID:22749696|PMID:22995991|PMID:23741238|PMID:23951356|PMID:24033266|PMID:24217635|PMID:24522117|PMID:24844923|PMID:25010710|PMID:25206283|PMID:25383785|PMID:25741868|PMID:25792561|PMID:26348468|PMID:26719302|PMID:27171515|PMID:28320769|PMID:28440306|PMID:28492532|PMID:28502372|PMID:28546060|PMID:28546062|PMID:28556356|PMID:28609377|PMID:28687971|PMID:28984793|PMID:28994706|PMID:30420730|PMID:31391146|PMID:31628023|PMID:33097431|PMID:33515547|PMID:34828289|PMID:34923708|PMID:3501289|PMID:35171259|PMID:35974416|PMID:37149461|PMID:38414044|PMID:9536098
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9008999	Hereditary Pancreatitis	susceptibility	ISO	RGD:1350719	D	RGD:7240710	20260812	OMIM			
12154377	SPINK1	serine peptidase inhibitor Kazal type 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350719	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:10691414|PMID:12825076|PMID:25741868|PMID:28492532
12154384	DNMT3L	DNA methyltransferase 3 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154384	DNMT3L	DNA methyltransferase 3 like	gene	DOID:1909	melanoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154384	DNMT3L	DNA methyltransferase 3 like	gene	DOID:3275	thymoma		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154384	DNMT3L	DNA methyltransferase 3 like	gene	DOID:8456	choline deficiency disease		ISO	RGD:1303239	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:17724018|REF_RGD_ID:9588267
12154384	DNMT3L	DNA methyltransferase 3 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154400	RBPMS2	RNA binding protein, mRNA processing factor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154400	RBPMS2	RNA binding protein, mRNA processing factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351025	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154421	SMIM20	small integral membrane protein 20	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154421	SMIM20	small integral membrane protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154421	SMIM20	small integral membrane protein 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154421	SMIM20	small integral membrane protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154421	SMIM20	small integral membrane protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3418804	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154433	RBM38	RNA binding motif protein 38	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1318308	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: therapeutic	PMID:34453780
12154433	RBM38	RNA binding motif protein 38	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1318308	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: therapeutic	PMID:34453780
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050453	lissencephaly		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lissencephaly	PMID:25741868|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1349232	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant	PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050581	brachydactyly		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachydactyly	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:3075	D	RGD:9068941	20240201	RGD		mRNA:increased expression:pituitary gland (rat)	PMID:26509893|REF_RGD_ID:11344152
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050696	fetal alcohol spectrum disorder	treatment	ISO	RGD:3075	D	RGD:9068941	20240627	RGD			PMID:23763370|REF_RGD_ID:13432044
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:10767337|PMID:11007980|PMID:11241840|PMID:11309367|PMID:11402105|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12325019|PMID:12325033|PMID:12843318|PMID:14598336|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:20301670|PMID:21831886|PMID:21878110|PMID:23696494|PMID:23810759|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050776	non-syndromic X-linked intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-syndromic X-linked intellectual disability	PMID:15351775|PMID:26605526|PMID:27247049|PMID:29618507|PMID:32043567
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050835	generalized dystonia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized dystonia	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24328834|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:27465203|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:32581362|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060040	pervasive developmental disorder		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22231481
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1349232	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060249	scoliosis		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060320	inguinal hernia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inguinal hernia	PMID:28186668|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1349232	D	RGD:7240710	20260708	OMIM			
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1349232	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10777366|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12825077|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15557528|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16122633|PMID:16169931|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17551081|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18562141|PMID:18652533|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21695138|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22497713|PMID:22516699|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23958653|PMID:24033266|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24526180|PMID:24621584|PMID:24626160|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25614871|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27247049|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27442528|PMID:27465203|PMID:27761913|PMID:27799067|PMID:27929079|PMID:28089766|PMID:28257338|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29141583|PMID:29482495|PMID:29655203|PMID:29720203|PMID:29758562|PMID:30081849|PMID:30405208|PMID:30536762|PMID:30573328|PMID:30673959|PMID:30788845|PMID:30945278|PMID:31138832
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE | ClinVar Annotator: match by term: MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS | ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11376998|PMID:11402105|PMID:11469283|PMID:11738866|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12180070|PMID:12325019|PMID:12384770|PMID:12673788|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12884430|PMID:14598336|PMID:15057977|PMID:15737703|PMID:16077729|PMID:16225173|PMID:16473305|PMID:17387578|PMID:17576681|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:19442733|PMID:19914908|PMID:20098342|PMID:20142466|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:23696494|PMID:24328834|PMID:24508304|PMID:24621584|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26347316|PMID:26350204|PMID:26418480|PMID:26467025|PMID:27353517|PMID:27465203|PMID:27929079|PMID:28089766|PMID:28351539|PMID:28492532|PMID:28544139|PMID:29655203|PMID:30405208|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32340510|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34426522|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1349232	D	RGD:7240710	20260708	OMIM			
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0060827	X-linked intellectual disability-psychosis-macroorchidism syndrome		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13 | ClinVar Annotator: match by term: PPM-X syndrome | ClinVar Annotator: match by term: X-linked intellectual disability-psychosis-macroorchidism syndrome	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11376998|PMID:11402105|PMID:11469283|PMID:11524741|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12075485|PMID:12161600|PMID:12180070|PMID:12325019|PMID:12325033|PMID:12384770|PMID:12566531|PMID:12615169|PMID:12673788|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12884430|PMID:14560307|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16225173|PMID:16473305|PMID:16647997|PMID:16672765|PMID:16763963|PMID:16966553|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17387578|PMID:17576681|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:21831886|PMID:21878110|PMID:21982064|PMID:22277191|PMID:22476991|PMID:23270700|PMID:23421866|PMID:23591336|PMID:23696494|PMID:23810759|PMID:24033266|PMID:24321989|PMID:24328834|PMID:24508304|PMID:24621584|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:27353517|PMID:27465203|PMID:27929079|PMID:28250423|PMID:28351539|PMID:28492532|PMID:28544139|PMID:29655203|PMID:29718204|PMID:30083362|PMID:30536762|PMID:31206249|PMID:31816669|PMID:31958484|PMID:32340510|PMID:32472557|PMID:32477112|PMID:32581362|PMID:34426522|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0070309	absence epilepsy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized non-motor (absence) seizure	PMID:28186668|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:11283202|PMID:12081720|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0080010	bone structure disease		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of bone mineral density	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0080467	developmental and epileptic encephalopathy 2		ISO	RGD:1349232	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0080833	laryngomalacia		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:32581362|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0080918	polymicrogyria		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polymicrogyria	PMID:25741868|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cortical dysplasia	PMID:25741868|PMID:28492532
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:11309367|PMID:14598336|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0111932	severe congenital encephalopathy due to MECP2 mutation		ISO	RGD:1349232	D	RGD:7240710	20260708	OMIM			
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0111932	severe congenital encephalopathy due to MECP2 mutation		ISO	RGD:1349232	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	PMID:10232754|PMID:10508514|PMID:1057790|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055878|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11283202|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11453972|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913564|PMID:11913567|PMID:1191367|PMID:11930274|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12552569|PMID:12555243|PMID:12566531|PMID:12567420|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707062|PMID:12707946|PMID:12719401|PMID:12746405|PMID:12746406|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15034579|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15211631|PMID:15228575|PMID:15287421|PMID:15351775|PMID:15389714|PMID:15492925|PMID:15526954|PMID:15557528|PMID:15578581|PMID:15675358|PMID:15689435|PMID:15689438|PMID:15712379|PMID:15718369|PMID:15737703|PMID:15857422|PMID:15866439|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16122633|PMID:16155192|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17101771|PMID:17142618|PMID:17172942|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17505203|PMID:17576681|PMID:17712354|PMID:17881312|PMID:17914728|PMID:17968969|PMID:17986102|PMID:18021529|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18190595|PMID:18313390|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18477000|PMID:18499664|PMID:18562141|PMID:18572337|PMID:18652533|PMID:18678449|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19034540|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20108430|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21178819|PMID:21212452|PMID:21228398|PMID:21300488|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21695138|PMID:21764336|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21940684|PMID:21954873|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22190343|PMID:22213695|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:22561697|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0111932	severe congenital encephalopathy due to MECP2 mutation		ISO	RGD:1349232	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Encephalopathy, neonatal severe, due to MECP2 mutations | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	PMID:24511209|PMID:2460487|PMID:24626160|PMID:24715477|PMID:24743294|PMID:24776741|PMID:24916645|PMID:24970834|PMID:25124696|PMID:25165434|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25541993|PMID:25634563|PMID:25640679|PMID:25741868|PMID:25927341|PMID:26175308|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26604147|PMID:26647311|PMID:26741492|PMID:26755454|PMID:26795593|PMID:26800272|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27171548|PMID:27255190|PMID:27354166|PMID:27356039|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28135719|PMID:28186668|PMID:28250423|PMID:28394409|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:28973632|PMID:29046627|PMID:29428920|PMID:29482495|PMID:29655203|PMID:29718204|PMID:29720203|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:30564305|PMID:30569584|PMID:30573328|PMID:30673959|PMID:30868116|PMID:30945278|PMID:31138832|PMID:31164858|PMID:31439979|PMID:31535341|PMID:31629770|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32722525|PMID:32860008|PMID:34008892|PMID:34324427|PMID:4413922|PMID:5300597|PMID:8177735|PMID:9038338|PMID:9536098|PMID:9546328
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:0111932	severe congenital encephalopathy due to MECP2 mutation		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION | ClinVar Annotator: match by term: Encephalopathy, neonatal severe | ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055848|PMID:11055898|PMID:11058114|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11269512|PMID:11283202|PMID:11309367|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:11960578|PMID:12075485|PMID:12081720|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12566531|PMID:12615169|PMID:12655490|PMID:12673788|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14974082|PMID:14986829|PMID:15000811|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15351775|PMID:15526954|PMID:15558314|PMID:15675358|PMID:15689435|PMID:15712379|PMID:15737703|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16080119|PMID:16225173|PMID:16473305|PMID:16647997|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:17084570|PMID:17088400|PMID:17089071|PMID:17142618|PMID:17171659|PMID:17172942|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17486179|PMID:17576681|PMID:17712354|PMID:17986102|PMID:18021529|PMID:18174548|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:18842453|PMID:19034540|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20631224|PMID:21160487|PMID:21575601|PMID:21624971|PMID:21807996|PMID:21831886|PMID:21871116|PMID:21878110|PMID:21982064|PMID:22106023|PMID:22119903|PMID:22182064|PMID:22277191|PMID:22382802|PMID:22476991|PMID:22578097|PMID:22923521|PMID:23220634|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24776741|PMID:24970834|PMID:25167861|PMID:25473036|PMID:25634563|PMID:25640679|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26622943|PMID:26647311|PMID:26741492|PMID:26842955|PMID:26852508|PMID:26930212|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27171548|PMID:27353517|PMID:27465203|PMID:27824329|PMID:27929079|PMID:28089766|PMID:28186668|PMID:28250423|PMID:28351539|PMID:28394482|PMID:28492532|PMID:28544139|PMID:28973632|PMID:29428920|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29758562|PMID:29913018|PMID:30081849|PMID:30083362|PMID:30405208|PMID:30536762|PMID:31206249|PMID:31535341|PMID:31602196|PMID:31618753|PMID:31717404|PMID:31816669|PMID:31958484|PMID:32340510|PMID:32393352|PMID:32469098|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32722525|PMID:32860008|PMID:33880059|PMID:34426522|PMID:34457282|PMID:34469436|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:38074073|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20151026|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:30536762|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:32214227|PMID:32581362|PMID:32860008|PMID:34008892|PMID:4413922|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual functioning disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283201|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11331619|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:1191367|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12418965|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746405|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12966523|PMID:14536082|PMID:14560307|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15070486|PMID:15173251|PMID:15228575|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16122633|PMID:16183801|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:17084570|PMID:17089071|PMID:17101771|PMID:17276711|PMID:17341617|PMID:17387578|PMID:17505203|PMID:17986102|PMID:18174559|PMID:18332345|PMID:18334558|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:19189931|PMID:19234536|PMID:19309283|PMID:19652677|PMID:19722030|PMID:20031356|PMID:20093853|PMID:20301670|PMID:20479760|PMID:20631224|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21695138|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22368975|PMID:22476991|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24283265|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24626160|PMID:24743294|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25541993|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:26936630|PMID:27465203|PMID:27781091|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29720203|PMID:29758562|PMID:30536762|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32581362|PMID:32860008|PMID:34008892|PMID:34324427|PMID:34837432|PMID:4413922|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738864|PMID:11738866|PMID:11738883|PMID:11738885|PMID:11960578|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12325033|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12843318|PMID:12872250|PMID:12966523|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15718369|PMID:15737703|PMID:16077729|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18058624|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:18989701|PMID:19442733|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20231667|PMID:20301670|PMID:20728410|PMID:21160487|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22923521|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23488948|PMID:23696494|PMID:23810759|PMID:23859859|PMID:24453408|PMID:24508304|PMID:24715477|PMID:25741868|PMID:26418480|PMID:26467025|PMID:27929079|PMID:28492532|PMID:29482495|PMID:29655203|PMID:29718204|PMID:30081849|PMID:30573328|PMID:30673959|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32469098|PMID:32472557|PMID:33880059|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11214906|PMID:11227330|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738866|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12418965|PMID:12567420|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15718369|PMID:15737703|PMID:16077729|PMID:16169931|PMID:16183801|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16832102|PMID:17089071|PMID:17142618|PMID:17267601|PMID:17276711|PMID:17351020|PMID:17387578|PMID:17986102|PMID:18058624|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:18989701|PMID:19189931|PMID:19309283|PMID:19442733|PMID:19722030|PMID:19914908|PMID:20093853|PMID:20098342|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20728410|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21831886|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23488948|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23859859|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25741868|PMID:26418480|PMID:26467025|PMID:26647311|PMID:27354166|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29482495|PMID:29655203|PMID:29718204|PMID:30081849|PMID:30536762|PMID:30573328|PMID:30673959|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32469098|PMID:32472557|PMID:33880059|PMID:34271245|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11524741|PMID:11738866|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12075485|PMID:12111643|PMID:12325019|PMID:12615169|PMID:12673788|PMID:12707946|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:15558314|PMID:16077729|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:23696494|PMID:24328834|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:27465203|PMID:27929079|PMID:28492532|PMID:29655203|PMID:29718204|PMID:30081849|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32469098|PMID:32472557|PMID:32581362|PMID:33880059|PMID:34457282|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10863	paralytic squint		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Paralytic strabismus	PMID:25741868|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11469283|PMID:11738866|PMID:11738883|PMID:12180070|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:15173251|PMID:15389714|PMID:15526954|PMID:15718369|PMID:15737703|PMID:16077729|PMID:16473305|PMID:17387578|PMID:18058624|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:18989701|PMID:19234536|PMID:19442733|PMID:19722030|PMID:19914908|PMID:20098342|PMID:20231667|PMID:20301670|PMID:20728410|PMID:21831886|PMID:22277191|PMID:22923521|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23488948|PMID:23696494|PMID:23859859|PMID:24453408|PMID:24508304|PMID:24715477|PMID:25741868|PMID:26418480|PMID:26467025|PMID:27929079|PMID:28492532|PMID:29482495|PMID:29655203|PMID:30573328|PMID:30673959|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969|PMID:8177735
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: microcephaly	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055878|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:1191367|PMID:12180070|PMID:12325019|PMID:12552569|PMID:12567420|PMID:12673788|PMID:12707946|PMID:12746406|PMID:12843318|PMID:12872250|PMID:12966523|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15526954|PMID:16077729|PMID:16122633|PMID:16473305|PMID:17101771|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19234536|PMID:19442733|PMID:19722030|PMID:19914908|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21160487|PMID:21831886|PMID:22368975|PMID:23260135|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24328834|PMID:24715477|PMID:25473036|PMID:25533962|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26647311|PMID:26795593|PMID:27465203|PMID:27929079|PMID:28394482|PMID:28492532|PMID:29655203|PMID:29758562|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32472557|PMID:32581362|PMID:34324427|PMID:34837432|PMID:35606502|PMID:36430969|PMID:4413922|PMID:8177735
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10933	obsessive-compulsive disorder		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obsessive-compulsive disorder	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:10970	spastic quadriplegic cerebral palsy		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegia	PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:11058114|PMID:1105898|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11462237|PMID:11524741|PMID:11960578|PMID:12180070|PMID:12770674|PMID:14729826|PMID:15173251|PMID:15526954|PMID:15737703|PMID:16473305|PMID:17236109|PMID:18332345|PMID:18414213|PMID:19234536|PMID:19722030|PMID:20031356|PMID:20815036|PMID:21982064|PMID:23270700|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26175308|PMID:26467025|PMID:26604147|PMID:26800272|PMID:27159028|PMID:27255190|PMID:27442528|PMID:28465761|PMID:28492532|PMID:28785396|PMID:29046627|PMID:31535341|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11119	Gilles de la Tourette syndrome		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Tourette syndrome	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11162	respiratory failure		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19559301
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11502	mitral valve insufficiency		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Mitral regurgitation	PMID:11309367|PMID:14598336|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11714	gestational diabetes		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11782	astigmatism		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11830	myopia		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11832	visual epilepsy		ISO	RGD:1349232	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921286
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:11914	gastroparesis		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroparesis	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1206	Rett syndrome		ISO	RGD:1349232	D	RGD:7240710	20260708	OMIM			
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1206	Rett syndrome		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism, dementia, ataxia, and loss of purposeful hand use | ClinVar Annotator: match by term: Rett Syndrome | ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder	PMID:10508514|PMID:10577905|PMID:10737989|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11035019|PMID:11055848|PMID:11055898|PMID:11058114|PMID:11180222|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11283202|PMID:11309367|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738862|PMID:11738864|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11746022|PMID:11768391|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:11960578|PMID:12075485|PMID:12081720|PMID:12111643|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12566531|PMID:12615169|PMID:12655490|PMID:12661945|PMID:12673788|PMID:12707946|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12872251|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14974082|PMID:14986829|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15351775|PMID:15526954|PMID:15558314|PMID:15675358|PMID:15712379|PMID:15737703|PMID:15841480|PMID:15875198|PMID:16077729|PMID:16077736|PMID:16182490|PMID:16183801|PMID:16199547|PMID:16225173|PMID:16473305|PMID:16647997|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16829352|PMID:16832102|PMID:16879196|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17171659|PMID:17370310|PMID:17383248|PMID:17387578|PMID:17427193|PMID:17440498|PMID:17486179|PMID:17576681|PMID:17986102|PMID:18021529|PMID:18313390|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18562141|PMID:18652533|PMID:18842453|PMID:19034540|PMID:19168818|PMID:19234536|PMID:19365833|PMID:19371229|PMID:19442733|PMID:19652677|PMID:19722030|PMID:19724012|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20108430|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20376788|PMID:20384458|PMID:20479760|PMID:20573179|PMID:20631224|PMID:20848651|PMID:21160487|PMID:21178819|PMID:21228398|PMID:21575601|PMID:21600714|PMID:21624971|PMID:21807996|PMID:21831886|PMID:21878110|PMID:21982064|PMID:22106023|PMID:22119903|PMID:22182064|PMID:22190343|PMID:22277191|PMID:22368975|PMID:22382802|PMID:22476991|PMID:22497713|PMID:22525432|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23810759|PMID:23866855|PMID:23921973|PMID:24033266|PMID:24283265|PMID:24321989|PMID:24328834|PMID:24508304|PMID:24511209|PMID:2460487|PMID:24621584|PMID:24715477|PMID:24776741|PMID:24970834|PMID:25167861|PMID:25473036|PMID:25590979|PMID:25741868|PMID:25927341|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26544843|PMID:26605526|PMID:26647311|PMID:26741492|PMID:26842955|PMID:26931468|PMID:26936630|PMID:26984561|PMID:27247049|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27929079|PMID:28186668|PMID:28250423|PMID:28351539|PMID:28397838|PMID:28492532|PMID:28544139|PMID:28837158|PMID:28973632|PMID:29618507|PMID:29655203|PMID:29718204|PMID:29720203|PMID:29913018|PMID:29961512|PMID:30081849|PMID:30083362|PMID:30377382|PMID:30405208|PMID:30536762|PMID:30569584|PMID:30842224|PMID:31164858|PMID:31178897|PMID:31206249|PMID:31439979|PMID:31602196|PMID:31629770|PMID:31645986|PMID:31816669|PMID:31958484|PMID:32105570|PMID:32214227|PMID:32336485|PMID:32340510|PMID:32393352|PMID:32469098|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33880059|PMID:34374989|PMID:34426522|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:38074073|PMID:38374194|PMID:38540345|PMID:39138584|PMID:8166633|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12698	gynecomastia		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12835	quadriplegia		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spastic quadriplegia	PMID:10767337|PMID:10814718|PMID:10814719|PMID:10854091|PMID:10944854|PMID:10991688|PMID:11058114|PMID:1105898|PMID:11214906|PMID:11241840|PMID:11245712|PMID:11462237|PMID:11524741|PMID:11960578|PMID:12180070|PMID:12770674|PMID:14729826|PMID:15173251|PMID:15526954|PMID:15737703|PMID:16473305|PMID:17236109|PMID:18332345|PMID:18414213|PMID:19234536|PMID:19722030|PMID:20031356|PMID:20815036|PMID:21982064|PMID:23270700|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26175308|PMID:26467025|PMID:26604147|PMID:26800272|PMID:27159028|PMID:27255190|PMID:27442528|PMID:28465761|PMID:28492532|PMID:28785396|PMID:29046627|PMID:31535341|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:7240710	20260708	OMIM			
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32581362|PMID:32860008|PMID:34837432|PMID:8177735|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16629931|PMID:16672765|PMID:16690727|PMID:16708070|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23337872|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25283752|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:25741916|PMID:26175308|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27781091|PMID:27799067|PMID:27929079|PMID:28135719|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30564305|PMID:30868116|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:34837432|PMID:35606502|PMID:36430969|PMID:8177735|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15578581|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16844334|PMID:16879196|PMID:16905679|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20815036|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27442528|PMID:27465203|PMID:27799067|PMID:27929079|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33452270|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:8177735|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16169931|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27442528|PMID:27465203|PMID:27799067|PMID:27929079|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30573328|PMID:30673959|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32340510|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33452270|PMID:34271245|PMID:34426522|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:36672771|PMID:8177735|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16169931|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24500651|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27442528|PMID:27465203|PMID:27799067|PMID:27929079|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30573328|PMID:30673959|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32340510|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33452270|PMID:34271245|PMID:34426522|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:36672771|PMID:39825153|PMID:8177735|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16169931|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21681106|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27442528|PMID:27465203|PMID:27799067|PMID:27929079|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30208311|PMID:30536762|PMID:30573328|PMID:30673959|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32340510|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33452270|PMID:34271245|PMID:34426522|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:36672771|PMID:39138584|PMID:39825153|PMID:8177735|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944834|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:1105898|PMID:11071498|PMID:11106359|PMID:11214906|PMID:11227330|PMID:11238684|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309367|PMID:11309679|PMID:11313756|PMID:11313764|PMID:11376998|PMID:11392517|PMID:11402105|PMID:11446411|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738865|PMID:11738866|PMID:11738879|PMID:11738883|PMID:11738885|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11896459|PMID:11896461|PMID:11913567|PMID:11960578|PMID:12065946|PMID:12075485|PMID:12081725|PMID:12111643|PMID:12111644|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12325033|PMID:12384770|PMID:1241840|PMID:12418965|PMID:12566531|PMID:12567420|PMID:12673788|PMID:12719401|PMID:12750821|PMID:12770674|PMID:12843318|PMID:12872250|PMID:12884430|PMID:12966523|PMID:1402105|PMID:14560307|PMID:14598336|PMID:14649554|PMID:14729826|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15287421|PMID:15389714|PMID:15526954|PMID:15558314|PMID:15578581|PMID:15718369|PMID:15737703|PMID:15866439|PMID:16077729|PMID:16169931|PMID:16183801|PMID:16225173|PMID:16376510|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16763963|PMID:16832102|PMID:16844334|PMID:16879196|PMID:16905679|PMID:16965328|PMID:17084570|PMID:17089071|PMID:17142618|PMID:17236109|PMID:17267601|PMID:17276711|PMID:17341617|PMID:17351020|PMID:17383248|PMID:17387578|PMID:17420824|PMID:17427193|PMID:17440498|PMID:17576681|PMID:17881312|PMID:17914728|PMID:17986102|PMID:18058624|PMID:18174548|PMID:18174559|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18499664|PMID:18810657|PMID:18842453|PMID:18989701|PMID:19133691|PMID:19168818|PMID:19189931|PMID:19217433|PMID:19234536|PMID:19309269|PMID:19309283|PMID:19442733|PMID:19552836|PMID:19573459|PMID:19652677|PMID:19722030|PMID:19914908|PMID:20031356|PMID:20093853|PMID:20098342|PMID:20116947|PMID:20142466|PMID:20151026|PMID:20207612|PMID:20231667|PMID:20301670|PMID:20425814|PMID:20479760|PMID:20625242|PMID:20631224|PMID:20661168|PMID:20728410|PMID:20815036|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21420494|PMID:21575601|PMID:21600714|PMID:21764336|PMID:21831886|PMID:21878110|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22516699|PMID:22525432|PMID:22679399|PMID:22923521|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23270700|PMID:23352163|PMID:23421866|PMID:23452848|PMID:23488948|PMID:23591336|PMID:23696494|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23859859|PMID:23921973|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24453408|PMID:24458799|PMID:24508304|PMID:24511209|PMID:24621584|PMID:24715477|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25326635|PMID:25473036|PMID:25533962|PMID:25634563|PMID:25741868|PMID:26175308|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26604147|PMID:26647311|PMID:26755454|PMID:26800272|PMID:26842955|PMID:26936630|PMID:26984561|PMID:27159028|PMID:27255190|PMID:27353517|PMID:27354166|PMID:27442528|PMID:27465203|PMID:27799067|PMID:27929079|PMID:28351539|PMID:28394482|PMID:28465761|PMID:28492532|PMID:28544139|PMID:28785396|PMID:28831199|PMID:29046627|PMID:29482495|PMID:29655203|PMID:29720203|PMID:30536762|PMID:30573328|PMID:30673959|PMID:31535341|PMID:31816669|PMID:31958484|PMID:32214227|PMID:32340510|PMID:32393352|PMID:32472557|PMID:32477112|PMID:32581362|PMID:32860008|PMID:33452270|PMID:34271245|PMID:34426522|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:36672771|PMID:39138584|PMID:39825153|PMID:8177735|PMID:9038338|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:12849	autistic disorder		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autism, susceptibility to, X-linked 3 | ClinVar Annotator: match by term: Autistic behavior	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12325019|PMID:12325033|PMID:12384770|PMID:12566531|PMID:12615169|PMID:12673788|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12884430|PMID:1402105|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15211631|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16225173|PMID:16473305|PMID:16690727|PMID:16763963|PMID:17089071|PMID:17142618|PMID:17387578|PMID:17427193|PMID:17576681|PMID:17986102|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:21600714|PMID:21831886|PMID:21878110|PMID:21982064|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24328834|PMID:24508304|PMID:24621584|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26842955|PMID:27353517|PMID:27465203|PMID:27929079|PMID:28186668|PMID:28351539|PMID:28492532|PMID:28544139|PMID:29655203|PMID:29718204|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32340510|PMID:32469098|PMID:32472557|PMID:32477112|PMID:32581362|PMID:33880059|PMID:34426522|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:28492532
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:13884	sick sinus syndrome		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome	PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1459	hypothyroidism		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1349232	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:10767337|PMID:10854091|PMID:11055898|PMID:11245712|PMID:11524741|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:16077736|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18174559|PMID:19914908|PMID:20151026|PMID:20301670|PMID:21160487|PMID:21954873|PMID:21982064|PMID:22277191|PMID:25741868|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1826	epilepsy		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures | ClinVar Annotator: match by term: seizure	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10944854|PMID:10991688|PMID:10991689|PMID:11005791|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11376998|PMID:11402105|PMID:11524741|PMID:11738866|PMID:11738883|PMID:11960578|PMID:12075485|PMID:12111643|PMID:12180070|PMID:12615169|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:15558314|PMID:16077729|PMID:16077736|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:17986102|PMID:18313390|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20098342|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20479760|PMID:21831886|PMID:21982064|PMID:23270700|PMID:23421866|PMID:23696494|PMID:24321989|PMID:24621584|PMID:24715477|PMID:25741868|PMID:26064184|PMID:26350204|PMID:26467025|PMID:26490184|PMID:26984561|PMID:27353517|PMID:27929079|PMID:28186668|PMID:28351539|PMID:28492532|PMID:28498846|PMID:29655203|PMID:29718204|PMID:30081849|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32469098|PMID:32472557|PMID:32477112|PMID:33880059|PMID:34457282|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1827	generalized epilepsy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10814718|PMID:11055898|PMID:16473305|PMID:19914908|PMID:20301670|PMID:23696494|PMID:25741868|PMID:28186668|PMID:28492532|PMID:29655203|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:1932	Angelman syndrome		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Angelman syndrome	PMID:11283202|PMID:12081720|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22231481
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:2234	focal epilepsy		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal epilepsy | ClinVar Annotator: match by term: Focal-onset seizure	PMID:11055898|PMID:11309367|PMID:14598336|PMID:15558314|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30081849|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3075	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hippocampus	PMID:12421618|REF_RGD_ID:9587846
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Metopic synostosis	PMID:10508514|PMID:10767337|PMID:10854091|PMID:11055898|PMID:18842453|PMID:19914908|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:2846	bruxism		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Bruxism	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11913567|PMID:12325033|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:15173251|PMID:15526954|PMID:16077729|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:21878110|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal tonic seizure	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21435439
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:535	sleep disorder		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:540	strabismus		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:5419	schizophrenia		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:543	dystonia		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12081720|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:15737703|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:32581362|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10805343|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11238684|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11469283|PMID:11738866|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11960578|PMID:12081720|PMID:12111644|PMID:12161600|PMID:12180070|PMID:12210319|PMID:12325019|PMID:12384770|PMID:1241840|PMID:12566531|PMID:12655490|PMID:12673788|PMID:12750821|PMID:12843318|PMID:12872250|PMID:12884430|PMID:14598336|PMID:14649554|PMID:14986829|PMID:15057977|PMID:15173251|PMID:15737703|PMID:16077729|PMID:16225173|PMID:16473305|PMID:16672765|PMID:16763963|PMID:17084570|PMID:17089071|PMID:17383248|PMID:17387578|PMID:17576681|PMID:18332345|PMID:18337588|PMID:18414213|PMID:18842453|PMID:19234536|PMID:19442733|PMID:19724012|PMID:19914908|PMID:20098342|PMID:20142466|PMID:20151026|PMID:20231667|PMID:20301670|PMID:20384458|PMID:20405910|PMID:20573179|PMID:20661168|PMID:21160487|PMID:21624971|PMID:21831886|PMID:21982064|PMID:22106023|PMID:22182064|PMID:22277191|PMID:23262346|PMID:23270700|PMID:23421866|PMID:23591336|PMID:23770565|PMID:23770587|PMID:23810759|PMID:23866855|PMID:23921973|PMID:23938294|PMID:24033266|PMID:24328834|PMID:24399845|PMID:24508304|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:27465203|PMID:27929079|PMID:28186668|PMID:28230711|PMID:28250423|PMID:28394409|PMID:28492532|PMID:28544139|PMID:30083362|PMID:30405208|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32340510|PMID:32393352|PMID:32472557|PMID:32581362|PMID:34426522|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:8177735|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:681	progressive bulbar palsy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bulbar palsy	PMID:25741868|PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26189965
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:693	dental enamel hypoplasia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Enamel hypoplasia	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:7166	thyroiditis		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroiditis	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:77	gastrointestinal system disease	susceptibility	ISO	RGD:1349232	D	RGD:9068941	20200609	RGD		associated with Rett Syndrome;DNA:mutations:multiple (human)	PMID:22331013|REF_RGD_ID:12790976
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:8927	learning disability		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19921286
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9000495	Tremor		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intention tremor | ClinVar Annotator: match by term: Tremor	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11913567|PMID:12081720|PMID:12325033|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:15173251|PMID:15526954|PMID:15737703|PMID:16077729|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:21878110|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9001325	Rett Syndrome, Atypical		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:11283202|PMID:12081720|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restlessness	PMID:10814718|PMID:11055898|PMID:16473305|PMID:19914908|PMID:20301670|PMID:23696494|PMID:25741868|PMID:28492532|PMID:29655203
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9001581	Constipation		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28186668|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9001897	MOTOR NEURON ATROPHY		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor neuron atrophy	PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type I malformation	PMID:28186668|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1349232	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:33010341
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3075	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus:	PMID:16380407|REF_RGD_ID:9588242
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:11055898|PMID:15558314|PMID:25741868|PMID:28492532|PMID:30081849|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:10767337|PMID:10991688|PMID:11055848|PMID:11241840|PMID:11309367|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23770565|PMID:23810759|PMID:23921973|PMID:24511209|PMID:24970834|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:10767337|PMID:10991688|PMID:11007980|PMID:11055848|PMID:11241840|PMID:11309367|PMID:11402105|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12325019|PMID:12325033|PMID:12843318|PMID:14598336|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:20301670|PMID:21831886|PMID:21878110|PMID:23696494|PMID:23770565|PMID:23810759|PMID:23921973|PMID:24328834|PMID:24511209|PMID:24970834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:27465203|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:32581362|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004507	Hirsutism		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004536	Rett Syndrome, Zappella Variant		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Rett syndrome, zappella variant	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9004866	Ataxia		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349232	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19234536|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969|PMID:37890975|PMID:8177735
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12325019|PMID:12325033|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15526954|PMID:16077729|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19234536|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:21878110|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24328834|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:27465203|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:32581362|PMID:34837432|PMID:35606502|PMID:36430969|PMID:37890975|PMID:8177735
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005616	Micrognathism		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:11007980|PMID:11309367|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12843318|PMID:14598336|PMID:20301670|PMID:21831886|PMID:24328834|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:27465203|PMID:27929079|PMID:28492532|PMID:32581362|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20711185
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005632	Cocaine-Related Disorders	treatment	ISO	RGD:3075	D	RGD:9068941	20200609	RGD			PMID:20711185|REF_RGD_ID:12789445
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005734	Abdominal Pain		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1349232	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.E137G, p.R167W (human)	PMID:11309367|REF_RGD_ID:1601320
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9006065	Arthralgia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349232	D	RGD:9068941	20211112	CTD		CTD Direct Evidence: marker/mechanism	PMID:28592917|PMID:33010341
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:3075	D	RGD:9068941	20250322	RGD		protein:decreased expression:hypothalamic microglia	PMID:30737481|REF_RGD_ID:598092506
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34457282|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007078	Hip Dislocation		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hip dislocation	PMID:11309367|PMID:14598336|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3075	D	RGD:9068941	20241214	RGD		mRNA:increased expression:dentate gyrus	PMID:12123686|REF_RGD_ID:9587847
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:28492532
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007573	Flatfoot		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:10767337|PMID:11241840|PMID:11402105|PMID:11746022|PMID:11913567|PMID:12325033|PMID:15173251|PMID:15526954|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:18414213|PMID:19914908|PMID:20031356|PMID:21878110|PMID:23696494|PMID:23810759|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:11055898|PMID:11309367|PMID:14598336|PMID:15558314|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30081849|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432|PMID:9038338
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9007722	Myoclonus		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myoclonus	PMID:12081720|PMID:15737703
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349232	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11913567|PMID:12325033|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16473305|PMID:17089071|PMID:17142618|PMID:17387578|PMID:17576681|PMID:17986102|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20142466|PMID:20231667|PMID:20301670|PMID:20479760|PMID:21831886|PMID:21878110|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24508304|PMID:24715477|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26467025|PMID:26490184|PMID:26984561|PMID:27929079|PMID:28186668|PMID:28492532|PMID:28544139|PMID:30081849|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32472557|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10854091|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11524741|PMID:11738866|PMID:11738883|PMID:11746022|PMID:11772708|PMID:11805248|PMID:11885030|PMID:11913567|PMID:12075485|PMID:12111643|PMID:12325019|PMID:12325033|PMID:12615169|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:15173251|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16077729|PMID:16473305|PMID:16690727|PMID:17089071|PMID:17142618|PMID:17387578|PMID:17576681|PMID:17986102|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:19914908|PMID:20031356|PMID:20098342|PMID:20142466|PMID:20231667|PMID:20301670|PMID:20479760|PMID:21831886|PMID:21878110|PMID:23270700|PMID:23421866|PMID:23696494|PMID:23810759|PMID:24328834|PMID:24508304|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26228846|PMID:26254891|PMID:26350204|PMID:26418480|PMID:26467025|PMID:26490184|PMID:26984561|PMID:27465203|PMID:27929079|PMID:28186668|PMID:28492532|PMID:28544139|PMID:29718204|PMID:30081849|PMID:30083362|PMID:30536762|PMID:31816669|PMID:31958484|PMID:32393352|PMID:32469098|PMID:32472557|PMID:32581362|PMID:33880059|PMID:34457282|PMID:34619114|PMID:34837432|PMID:35606502|PMID:36430969|PMID:9536098
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008421	Epistaxis		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spontaneous, recurrent epistaxis	PMID:28186668|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008514	Psychomotor Disorders		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098342
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008675	Dyskinesias		ISO	RGD:1349232	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Dyskinesia	PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814718|PMID:10814719|PMID:10944854|PMID:10986043|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11214906|PMID:11227330|PMID:11241840|PMID:11245712|PMID:11269512|PMID:11309679|PMID:11313756|PMID:11376998|PMID:11402105|PMID:11462237|PMID:11469283|PMID:11524741|PMID:11738860|PMID:11738864|PMID:11738885|PMID:11746022|PMID:11913567|PMID:11960578|PMID:12081725|PMID:12111643|PMID:12180070|PMID:12210319|PMID:12418965|PMID:12567420|PMID:12872250|PMID:12966523|PMID:14649554|PMID:15057977|PMID:15173251|PMID:15526954|PMID:15558314|PMID:15737703|PMID:16169931|PMID:16183801|PMID:16473305|PMID:16672765|PMID:16690727|PMID:16832102|PMID:17089071|PMID:17267601|PMID:17276711|PMID:17351020|PMID:17387578|PMID:17986102|PMID:18174559|PMID:18337588|PMID:18414213|PMID:19189931|PMID:19309283|PMID:19722030|PMID:20093853|PMID:20301670|PMID:20425814|PMID:21154482|PMID:21160487|PMID:21372149|PMID:21954873|PMID:21982064|PMID:22277191|PMID:22476991|PMID:22525432|PMID:22679399|PMID:2323808|PMID:23238081|PMID:23262346|PMID:23770565|PMID:23770587|PMID:24399845|PMID:24458799|PMID:24511209|PMID:24916645|PMID:24970834|PMID:25167861|PMID:25741868|PMID:26467025|PMID:26647311|PMID:27354166|PMID:28394482|PMID:28492532|PMID:30536762|PMID:32393352|PMID:34271245|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008689	Facial Hypertrichosis		ISO	RGD:1349232	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Facial hypertrichosis	PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1349232	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19559301
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:18414213|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9220	central sleep apnea		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central apnea	PMID:32581362
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:936	brain disease		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10577905|PMID:25741868|PMID:28492532
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1349232	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11402105|PMID:11738866|PMID:11738883|PMID:12673788|PMID:12843318|PMID:12872250|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24715477|PMID:25741868|PMID:26467025|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:34837432|PMID:35606502|PMID:36430969
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9840	esotropia		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Esodeviation | ClinVar Annotator: match by term: Esotropia	PMID:11309367|PMID:14598336|PMID:18414213|PMID:25741868|PMID:26350204|PMID:26467025|PMID:26490184|PMID:27929079|PMID:28492532|PMID:30083362|PMID:30536762|PMID:34457282|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868|PMID:28492532|PMID:34837432
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9888	alternating esotropia		ISO	RGD:1349232	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Alternating esotropia	PMID:19234536|PMID:8177735
12154441	MECP2	methyl-CpG binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1349232	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:10508514|PMID:10577905|PMID:10745042|PMID:10767337|PMID:10814719|PMID:10852707|PMID:10991688|PMID:10991689|PMID:11007980|PMID:11055898|PMID:11058114|PMID:11241840|PMID:11269512|PMID:11309367|PMID:11402105|PMID:11738866|PMID:11738883|PMID:11772708|PMID:11805248|PMID:11885030|PMID:12325019|PMID:12673788|PMID:12843318|PMID:12872250|PMID:14598336|PMID:15057977|PMID:16077729|PMID:17387578|PMID:18332345|PMID:18337588|PMID:18414213|PMID:19442733|PMID:20098342|PMID:20231667|PMID:20301670|PMID:21831886|PMID:23270700|PMID:23421866|PMID:24328834|PMID:24715477|PMID:25473036|PMID:25741868|PMID:26350204|PMID:26418480|PMID:26467025|PMID:27465203|PMID:27929079|PMID:28492532|PMID:31816669|PMID:31958484|PMID:32472557|PMID:32581362|PMID:34837432|PMID:35606502|PMID:36430969
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:0110159	Charcot-Marie-Tooth disease type 2B		ISO	RGD:1351789	D	RGD:7240710	20180130	OMIM			
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:0110159	Charcot-Marie-Tooth disease type 2B		ISO	RGD:1351789	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2B | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, type 2b | ClinVar Annotator: match by term: Hereditary sodium channelopathy-related small fibers neuropathy	PMID:15455439|PMID:17060578|PMID:17576681|PMID:18272684|PMID:18501189|PMID:20464402|PMID:21151572|PMID:23179371|PMID:23188822|PMID:23458836|PMID:23616551|PMID:24327558|PMID:24344282|PMID:24498653|PMID:25741868|PMID:26392352|PMID:26467025|PMID:26791407|PMID:28492532|PMID:29130394|PMID:30612743|PMID:32326241|PMID:33846303|PMID:35887194|PMID:9536098
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:15455439|PMID:18272684|PMID:23188822|PMID:24498653|PMID:25741868|PMID:26467025|PMID:26791407|PMID:28492532|PMID:29130394
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:1909	melanoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:630	genetic disease		ISO	RGD:1351789	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351789	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154550	RAB7A	RAB7A, member RAS oncogene family	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1351789	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:1115	sarcoma		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:1612	breast cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316198	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154565	LEPROTL1	leptin receptor overlapping transcript like 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1316198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:0111907	thrombophilia due to thrombin defect	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260812	OMIM			
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:2452	thrombophilia		ISO	RGD:1350340	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1302979	D	RGD:9068941	20200609	RGD			PMID:20818495|REF_RGD_ID:11353855
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350340	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:1302979	D	RGD:9068941	20200609	RGD		associated with Thyroid Neoplasms	PMID:22715430|REF_RGD_ID:11353856
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1350340	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Venous thromboembolism, susceptibility to	PMID:25741868
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9003505	Venous Thromboembolism	disease_progression	ISO	RGD:1350340	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	PMID:22421107|REF_RGD_ID:11353820
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1350340	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.G534E (rs7080536) (human)	PMID:22421107|REF_RGD_ID:11353820
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1302979	D	RGD:9068941	20200609	RGD			PMID:22715430|REF_RGD_ID:11353856
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5		ISO	RGD:1350340	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HABP2-related condition | ClinVar Annotator: match by term: THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 5	PMID:25741868
12154578	HABP2	hyaluronan binding protein 2	gene	DOID:9007597	Thyroid Cancer, Nonmedullary, 5	susceptibility	ISO	RGD:1350340	D	RGD:7240710	20260812	OMIM			
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:3275	thymoma		ISO	RGD:1318962	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154599	ABRAXAS2	abraxas 2, BRISC complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318962	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154612	SPARCL1	SPARC like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154612	SPARCL1	SPARC like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154612	SPARCL1	SPARC like 1	gene	DOID:10534	stomach cancer		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154612	SPARCL1	SPARC like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154612	SPARCL1	SPARC like 1	gene	DOID:1826	epilepsy		ISO	RGD:736595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18488994
12154612	SPARCL1	SPARC like 1	gene	DOID:1909	melanoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154612	SPARCL1	SPARC like 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:736595	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Stromal corneal dystrophy	
12154612	SPARCL1	SPARC like 1	gene	DOID:289	endometriosis		ISO	RGD:736595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12154612	SPARCL1	SPARC like 1	gene	DOID:3275	thymoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154612	SPARCL1	SPARC like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12154612	SPARCL1	SPARC like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154612	SPARCL1	SPARC like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154612	SPARCL1	SPARC like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1324	lung cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:1909	melanoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:4362	cervical cancer		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1322400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1322400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12154650	AP3S1	adaptor related protein complex 3 subunit sigma 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154664	PBX2	PBX homeobox 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350680	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154664	PBX2	PBX homeobox 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154664	PBX2	PBX homeobox 2	gene	DOID:1115	sarcoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154664	PBX2	PBX homeobox 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12154664	PBX2	PBX homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154664	PBX2	PBX homeobox 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154664	PBX2	PBX homeobox 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1321308	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy | ClinVar Annotator: match by term: Jeune's syndrome | ClinVar Annotator: match by term: Short ribs | ClinVar Annotator: match by term: asphyxiating thoracic dystrophy	PMID:16199547|PMID:17024374|PMID:19251731|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:23169490|PMID:29620724|PMID:34645488
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:7240710	20180130	OMIM			
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:16404586|PMID:17024374|PMID:17576681|PMID:18182642|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:0111571	Weyers acrofacial dysostosis		ISO	RGD:1321308	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS | ClinVar Annotator: match by term: WEYERS ACROFACIAL DYSOSTOSIS	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21815252|PMID:22406498|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26580685|PMID:26748586|PMID:27168972|PMID:28492532|PMID:29068549|PMID:30881389|PMID:31645978|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:38531627|PMID:9536098
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:7240710	20180130	OMIM			
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome		ISO	RGD:1321308	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia | ClinVar Annotator: match by term: ELLIS-VAN CREVELD SYNDROME | ClinVar Annotator: match by term: Ellis-van Creveld syndrome | ClinVar Annotator: match by term: Mesoectodermal dysplasia	PMID:12468274|PMID:12571802|PMID:16199547|PMID:17024374|PMID:17576681|PMID:19251731|PMID:19810119|PMID:19876929|PMID:20184732|PMID:21199751|PMID:21815252|PMID:22406498|PMID:23026208|PMID:23220543|PMID:24033266|PMID:25047945|PMID:25500235|PMID:25525159|PMID:25741868|PMID:26064711|PMID:26580685|PMID:26748586|PMID:26818569|PMID:27168972|PMID:27280866|PMID:28492532|PMID:29068549|PMID:29321360|PMID:29456477|PMID:32369273|PMID:33057194|PMID:33448881|PMID:35927022|PMID:37107645|PMID:37485807|PMID:7218275|PMID:9536098
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:12714	Ellis-Van Creveld syndrome	susceptibility	ISO	RGD:1321308	D	RGD:9068941	20200609	RGD		DNA:mutations	PMID:12571802|REF_RGD_ID:1600212
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:26580685|PMID:28492532
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12468274|PMID:17024374|PMID:19810119|PMID:19876929|PMID:23220543|PMID:24033266|PMID:25525159|PMID:25741868|PMID:28492532
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:9002747	Selective Tooth Agenesis 2		ISO	RGD:1321308	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Tooth agenesis, selective, 2	PMID:25741868
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10700184|PMID:12468274|PMID:12571802|PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321308	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154677	EVC2	EvC ciliary complex subunit 2	gene	DOID:9249	Beemer-Langer syndrome		ISO	RGD:1321308	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Type IV short rib polydactyly syndrome	PMID:17024374|PMID:19810119|PMID:19876929|PMID:25741868|PMID:28492532|PMID:29068549
12154710	MIR190B	microRNA mir-190b	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:2290210	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12154710	MIR190B	microRNA mir-190b	gene	DOID:9005091	Lentivirus Infections		ISO	RGD:2290210	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26937033
12154847	TEKT3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:7240710	20230505	OMIM			
12154847	TEKT3	tektin 3	gene	DOID:0070580	spermatogenic failure 81		ISO	RGD:1321573	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 81 | ClinVar Annotator: match by term: Spermatogenic failure 81	PMID:25741868
12154847	TEKT3	tektin 3	gene	DOID:1324	lung cancer		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154847	TEKT3	tektin 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12154847	TEKT3	tektin 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A		ISO	RGD:734400	D	RGD:7240710	20230726	OMIM			
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0070461	mitochondrial complex V (ATP synthase) deficiency nuclear type 4A		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4A | ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A	PMID:23599390|PMID:25741868|PMID:28492532|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B		ISO	RGD:734400	D	RGD:7240710	20230726	OMIM			
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0070462	mitochondrial complex V (ATP synthase) deficiency nuclear type 4B		ISO	RGD:734400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B	PMID:25741868
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619993	D	RGD:9068941	20200609	RGD			PMID:25222487|REF_RGD_ID:13703054
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0111498	combined oxidative phosphorylation deficiency 22		ISO	RGD:734400	D	RGD:7240710	20180130	OMIM			
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:0111498	combined oxidative phosphorylation deficiency 22		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATP5F1A-related condition | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 22	PMID:23599390|PMID:25741868|PMID:28492532|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:10534	stomach cancer		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:1059	intellectual disability		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Moderate intellectual disability	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:734400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374891
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:10652	Alzheimer's disease	onset	ISO	RGD:734401	D	RGD:9068941	20200609	RGD		protein:increased modification:inferior parietal cortex (human)	PMID:19374891|REF_RGD_ID:13703046
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:619993	D	RGD:9068941	20200609	RGD			PMID:25561935|REF_RGD_ID:13703056
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:10763	hypertension		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle (rat)	PMID:24388463|REF_RGD_ID:7800726
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:1909	melanoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:630	genetic disease		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23599390|PMID:25741868|PMID:28492532|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:619993	D	RGD:9068941	20200609	RGD		chronic thromboembolic pulmonary hypertension	PMID:21396162|REF_RGD_ID:13703061
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:734400	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:8725	vascular dementia		ISO	RGD:734400	D	RGD:9068941	20200609	RGD			PMID:24448401|REF_RGD_ID:14696801
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:619993	D	RGD:9068941	20200609	RGD			PMID:25689466|REF_RGD_ID:13703055
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:increased expression:retroperitoneal fat pad (rat)	PMID:26633942|REF_RGD_ID:13703049
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9002669	Hypoxia		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius (rat)	PMID:22401655|REF_RGD_ID:13703058
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9003133	Hypertelorism		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9005466	Language Development Disorders		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:decreased expression:cerebral cortex, mitochondrion (rat)	PMID:28526935|REF_RGD_ID:13703047
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9005930	Endotoxemia		ISO	RGD:734400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16741687
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9007573	Flatfoot		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:23599390|PMID:25741868|PMID:34483339|PMID:34954817|PMID:40859057
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9008691	Liver Injury		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:25772430|REF_RGD_ID:13800895
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9008824	Sarcopenia		ISO	RGD:619993	D	RGD:9068941	20200609	RGD		protein:increased localization:gastrocnemius (rat)	PMID:20850499|REF_RGD_ID:13703063
12154862	ATP5F1A	ATP synthase F1 subunit alpha	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1318473	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:ovary	PMID:18567002|REF_RGD_ID:2298935
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:4362	cervical cancer		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1318473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18567002
12154878	SPDEF	SAM pointed domain containing ETS transcription factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318473	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154893	ASB15	ankyrin repeat and SOCS box containing 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12154893	ASB15	ankyrin repeat and SOCS box containing 15	gene	DOID:1909	melanoma		ISO	RGD:1346506	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12154893	ASB15	ankyrin repeat and SOCS box containing 15	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1346506	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
12154931	SERPINB13	serpin family B member 13	gene	DOID:10283	prostate cancer		ISO	RGD:1312230	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12154931	SERPINB13	serpin family B member 13	gene	DOID:1324	lung cancer		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154931	SERPINB13	serpin family B member 13	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12154931	SERPINB13	serpin family B member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312230	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:1115	sarcoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:1324	lung cancer		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12154944	NAALAD2	N-acetylated alpha-linked acidic dipeptidase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315645	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:7240710	20190315	OMIM			
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:0060472	Kindler syndrome		ISO	RGD:1315645	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: KINDLER SYNDROME | ClinVar Annotator: match by term: Kindler syndrome | ClinVar Annotator: match by term: Kindler's syndrome	PMID:12789646|PMID:14507403|PMID:14962093|PMID:15313809|PMID:16199547|PMID:16675959|PMID:16702500|PMID:17178989|PMID:17460733|PMID:17916195|PMID:18528435|PMID:19292718|PMID:19762715|PMID:20938162|PMID:21336475|PMID:21936020|PMID:22220914|PMID:22466645|PMID:24346923|PMID:24635075|PMID:24635080|PMID:25156791|PMID:25437880|PMID:25599393|PMID:25741868|PMID:26937547|PMID:27293055|PMID:27862150|PMID:28492532|PMID:29130490|PMID:29453417|PMID:30838128|PMID:31340837|PMID:31957900
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:11830	myopia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:1272	telangiectasis		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:1324	lung cancer		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:2731	vesiculobullous skin disease		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:3275	thymoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:630	genetic disease		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:9003228	Tooth Loss		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tooth loss	PMID:14962093|PMID:17916195|PMID:21936020|PMID:22466645|PMID:24346923|PMID:25741868|PMID:27293055|PMID:28492532|PMID:30838128|PMID:31340837|PMID:31957900
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:9004462	Atrophy		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:9006976	Erythema		ISO	RGD:1315645	D	RGD:9068941	20200609	RGD		Kindler syndrome, OMIM:173650     DNA:point_mutation:CDS:C787T, amino acid Q263X	PMID:12668616|REF_RGD_ID:1600405
12154991	FERMT1	FERM domain containing kindlin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315645	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155013	NYAP2	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	gene	DOID:10534	stomach cancer		ISO	RGD:2311477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155013	NYAP2	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	gene	DOID:1324	lung cancer		ISO	RGD:2311477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155013	NYAP2	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:2311477	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155013	NYAP2	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2311477	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155042	RECQL	RecQ like helicase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155042	RECQL	RecQ like helicase	gene	DOID:10534	stomach cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:28492532
12155042	RECQL	RecQ like helicase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155042	RECQL	RecQ like helicase	gene	DOID:1115	sarcoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155042	RECQL	RecQ like helicase	gene	DOID:11830	myopia		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12155042	RECQL	RecQ like helicase	gene	DOID:1324	lung cancer		ISO	RGD:1322333	D	RGD:9068941	20200609	RGD			PMID:18422747|REF_RGD_ID:2317370
12155042	RECQL	RecQ like helicase	gene	DOID:1596	depressive disorder		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12155042	RECQL	RecQ like helicase	gene	DOID:162	cancer		ISO	RGD:1322333	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cancer	
12155042	RECQL	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:9068941	20200609	RGD			PMID:18422747|REF_RGD_ID:2317370
12155042	RECQL	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:9068941	20200609	RGD		DNA:SNP:3'utr:rs13035 (human)	PMID:16540687|REF_RGD_ID:2317365
12155042	RECQL	RecQ like helicase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322333	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns	PMID:19768149|REF_RGD_ID:2317369
12155042	RECQL	RecQ like helicase	gene	DOID:1909	melanoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155042	RECQL	RecQ like helicase	gene	DOID:2030	anxiety disorder		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:26467025|PMID:28492532|PMID:33471991|PMID:35264596|PMID:35534704
12155042	RECQL	RecQ like helicase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155042	RECQL	RecQ like helicase	gene	DOID:2394	ovarian cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: familial ovarian cancer	PMID:16199547|PMID:25741868|PMID:28492532|PMID:3022465|PMID:30224651|PMID:36451132|PMID:36744932
12155042	RECQL	RecQ like helicase	gene	DOID:4362	cervical cancer		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155042	RECQL	RecQ like helicase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 2 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32165824|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1 | ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:32443704|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:32443704|PMID:32546565|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:32566746|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1322333	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary breast and ovarian cancer syndrome | ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:31173646|PMID:33471991|PMID:33563768|PMID:33649982
12155042	RECQL	RecQ like helicase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155042	RECQL	RecQ like helicase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155042	RECQL	RecQ like helicase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322333	D	RGD:9068941	20200609	RGD			PMID:18422747|REF_RGD_ID:2317370
12155042	RECQL	RecQ like helicase	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1322333	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18422747|REF_RGD_ID:2317370
12155042	RECQL	RecQ like helicase	gene	DOID:687	hepatoblastoma		ISO	RGD:1322333	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
12155042	RECQL	RecQ like helicase	gene	DOID:9001941	RECON PROGEROID SYNDROME		ISO	RGD:1322333	D	RGD:7240710	20230726	OMIM			
12155042	RECQL	RecQ like helicase	gene	DOID:9001941	RECON PROGEROID SYNDROME		ISO	RGD:1322333	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: RECON PROGEROID SYNDROME | ClinVar Annotator: match by term: RECON progeroid syndrome | ClinVar Annotator: match by term: RECQL-related condition	PMID:17576681|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29625052|PMID:31173646|PMID:31604778|PMID:31911633|PMID:32183364|PMID:32427313|PMID:32546565|PMID:33471991|PMID:33563768|PMID:33649982|PMID:34754157|PMID:35264596|PMID:35534704|PMID:36451132|PMID:37031196|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:28492532|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32566746|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:35264596|PMID:36451132|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15096578|PMID:16199547|PMID:17576681|PMID:19768149|PMID:23852950|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:27832498|PMID:28492532|PMID:28591191|PMID:28724667|PMID:29341116|PMID:29351780|PMID:29555771|PMID:29625052|PMID:30224651|PMID:30267214|PMID:30610487|PMID:30613976|PMID:31173646|PMID:31312277|PMID:31444271|PMID:31469826|PMID:31604778|PMID:31659152|PMID:32029870|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32517021|PMID:32546565|PMID:32566746|PMID:32957588|PMID:33342430|PMID:33471991|PMID:33563768|PMID:33649982|PMID:33858029|PMID:35264596|PMID:36451132|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32029870|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33471991|PMID:35264596|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:19768149|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29341116|PMID:29351780|PMID:30224651|PMID:30613976|PMID:32029870|PMID:32165824|PMID:32517021|PMID:32546565|PMID:32566746|PMID:33471991|PMID:35264596|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:17576681|PMID:25741868|PMID:25915596|PMID:25945795|PMID:26455304|PMID:26467025|PMID:27125668|PMID:28492532|PMID:28724667|PMID:29351780|PMID:30224651|PMID:31911633|PMID:32029870|PMID:32517021|PMID:32546565|PMID:33471991|PMID:35264596|PMID:35534704|PMID:36113475|PMID:9536098
12155042	RECQL	RecQ like helicase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25915596
12155042	RECQL	RecQ like helicase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322333	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12155042	RECQL	RecQ like helicase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		DNA:SNP: :rs10516526	PMID:21965014|REF_RGD_ID:633633059
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		mRNA:decreased expression:lung	PMID:37609638|REF_RGD_ID:633629027
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:3083	chronic obstructive pulmonary disease	no_association	ISO	RGD:1602688	D	RGD:9068941	20260305	RGD		DNA:SNP:intron:rs10516526	PMID:24286382|REF_RGD_ID:632517853
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1602688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21716162
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155084	GSTCD	glutathione S-transferase C-terminal domain containing	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155102	NWD2	NACHT and WD repeat domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603203	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:4362	cervical cancer		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:5041	esophageal cancer		ISO	RGD:1320985	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155119	TAF5L	TATA-box binding protein associated factor 5 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:0060058	lymphoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:620400	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12155128	MLXIPL	MLX interacting protein like	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:620400	D	RGD:9068941	20230914	RGD			PMID:28458350|REF_RGD_ID:401799674
12155128	MLXIPL	MLX interacting protein like	gene	DOID:10534	stomach cancer		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:1324	lung cancer		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1343873	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:2661	myoepithelioma		ISO	RGD:1343873	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:3275	thymoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230831	RGD		DNA:SNP:cds: C771G, H241Q	PMID:25179879|REF_RGD_ID:401794581
12155128	MLXIPL	MLX interacting protein like	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230831	RGD		DNA:SNP:cds: G771C, Q241H (rs381231)	PMID:19571538|REF_RGD_ID:401794582
12155128	MLXIPL	MLX interacting protein like	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs3812316) (human)	PMID:21726544|REF_RGD_ID:401794579
12155128	MLXIPL	MLX interacting protein like	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:557	kidney disease		ISO	RGD:620400	D	RGD:9068941	20230921	RGD		associated with hypertension;protein:increased expression:kidney (rat)	PMID:28851937|REF_RGD_ID:401824613
12155128	MLXIPL	MLX interacting protein like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230914	RGD		DNA:SNP:cd: C771G, p.Q241H (rs3812316) (human)	PMID:24448738|REF_RGD_ID:401799621
12155128	MLXIPL	MLX interacting protein like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
12155128	MLXIPL	MLX interacting protein like	gene	DOID:783	end stage renal disease		ISO	RGD:1343873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19878707
12155128	MLXIPL	MLX interacting protein like	gene	DOID:783	end stage renal disease	ameliorates	ISO	RGD:620400	D	RGD:9068941	20230914	RGD			PMID:19878707|REF_RGD_ID:2326081
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230914	RGD		DNA:SNP: (rs35493868); in younger than 55 years of age	PMID:29848931|REF_RGD_ID:401799677
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9006599	Hypertriglyceridemia	susceptibility	ISO	RGD:1343873	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes: (rs17145738) (human)	PMID:27599772|REF_RGD_ID:401794577
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9006599	Hypertriglyceridemia	treatment	ISO	RGD:620400	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:620400	D	RGD:9068941	20230914	RGD			PMID:27821167|REF_RGD_ID:401799622
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9007692	Insulin Resistance	treatment	ISO	RGD:620400	D	RGD:9068941	20230720	RGD			PMID:26394137|REF_RGD_ID:329955565
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:620400	D	RGD:9068941	20230914	RGD		protein:increased expression:liver (rat)	PMID:30029691|REF_RGD_ID:401799626
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9778	irritable bowel syndrome		ISO	RGD:1621550	D	RGD:9068941	20220825	MouseDO			
12155128	MLXIPL	MLX interacting protein like	gene	DOID:9970	obesity		ISO	RGD:1343873	D	RGD:9068941	20260312	RGD		mRNA:decreased expression, increased expression:adipose, liver	PMID:21840420|REF_RGD_ID:640476591
12155158	HMCN1	hemicentin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:7240710	20180130	OMIM			
12155158	HMCN1	hemicentin 1	gene	DOID:0110014	age related macular degeneration 1		ISO	RGD:1605323	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 1 | ClinVar Annotator: match by term: HMCN1-related condition | ClinVar Annotator: match by term: MACULAR DEGENERATION, AGE-RELATED, 1	PMID:14570714|PMID:17576681|PMID:25133751|PMID:25338956|PMID:25741868|PMID:27007659|PMID:28492532|PMID:9536098
12155158	HMCN1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12155158	HMCN1	hemicentin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1605323	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12155158	HMCN1	hemicentin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155158	HMCN1	hemicentin 1	gene	DOID:1115	sarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155158	HMCN1	hemicentin 1	gene	DOID:1324	lung cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155158	HMCN1	hemicentin 1	gene	DOID:1909	melanoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155158	HMCN1	hemicentin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12155158	HMCN1	hemicentin 1	gene	DOID:3275	thymoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155158	HMCN1	hemicentin 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155158	HMCN1	hemicentin 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155158	HMCN1	hemicentin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605323	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155158	HMCN1	hemicentin 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155158	HMCN1	hemicentin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155158	HMCN1	hemicentin 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12155158	HMCN1	hemicentin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155158	HMCN1	hemicentin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155158	HMCN1	hemicentin 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605323	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155280	NOL4	nucleolar protein 4	gene	DOID:1909	melanoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155280	NOL4	nucleolar protein 4	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12155280	NOL4	nucleolar protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1321698	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155280	NOL4	nucleolar protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155280	NOL4	nucleolar protein 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155280	NOL4	nucleolar protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155280	NOL4	nucleolar protein 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321698	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155305	CMA1	chymase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155305	CMA1	chymase 1	gene	DOID:10763	hypertension		ISO	RGD:735367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14620933
12155305	CMA1	chymase 1	gene	DOID:11335	sarcoidosis		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		DNA:snp:5' utr:g.-526C>T (human)	PMID:16446531|REF_RGD_ID:5128561
12155305	CMA1	chymase 1	gene	DOID:11984	hypertrophic cardiomyopathy	susceptibility	ISO	RGD:735367	D	RGD:9068941	20200609	RGD		DNA:snp:5' utr:g.-1903G>A rs1800875 (human)	PMID:8759823|REF_RGD_ID:5128572
12155305	CMA1	chymase 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:2365	D	RGD:9068941	20211224	RGD		protein:increased activity:kidney (rat)	PMID:15869764|REF_RGD_ID:1581745
12155305	CMA1	chymase 1	gene	DOID:1682	congenital heart disease		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:lung interstitial tissue, vasculature, mast cell (human)	PMID:10508822|REF_RGD_ID:5128660
12155305	CMA1	chymase 1	gene	DOID:2841	asthma	no_association	ISO	RGD:735367	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)	PMID:15248847|REF_RGD_ID:1625397
12155305	CMA1	chymase 1	gene	DOID:2841	asthma	severity	ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:lung epithelium, mast cell (human)	PMID:20813890|REF_RGD_ID:5128804
12155305	CMA1	chymase 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:735367	D	RGD:9068941	20200609	RGD		DNA:duplications:3' utr:g.*254-?dupTG, dupGA (human)	PMID:15924217|REF_RGD_ID:1625396
12155305	CMA1	chymase 1	gene	DOID:3070	high grade glioma		ISO	RGD:735367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12155305	CMA1	chymase 1	gene	DOID:3082	interstitial lung disease		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, mast cell (human)	PMID:17334631|REF_RGD_ID:5128816
12155305	CMA1	chymase 1	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory tract epithelium, mast cell (human)	PMID:18783610|REF_RGD_ID:5128552
12155305	CMA1	chymase 1	gene	DOID:3310	atopic dermatitis		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)	PMID:16134991|REF_RGD_ID:1625394
12155305	CMA1	chymase 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15297733
12155305	CMA1	chymase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735367	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155305	CMA1	chymase 1	gene	DOID:820	myocarditis		ISO	RGD:735368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle (mouse)	PMID:14578624|REF_RGD_ID:5128509
12155305	CMA1	chymase 1	gene	DOID:9002019	Granuloma		ISO	RGD:2365	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor (rat)	PMID:15723097|REF_RGD_ID:5128499
12155305	CMA1	chymase 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:735368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle (mouse)	PMID:11828013|REF_RGD_ID:5128508
12155305	CMA1	chymase 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:735367	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14620933
12155305	CMA1	chymase 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:14620933|REF_RGD_ID:5128600
12155305	CMA1	chymase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2365	D	RGD:9068941	20200609	RGD		protein:increased expression:mesenteric artery, mast cell (rat)	PMID:15337505|REF_RGD_ID:5128799
12155305	CMA1	chymase 1	gene	DOID:9007278	Anaphylaxis		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, mast cell (human)	PMID:17081716|REF_RGD_ID:5128820
12155305	CMA1	chymase 1	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:735367	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa, mast cell (human)	PMID:11549546|REF_RGD_ID:5128839
12155305	CMA1	chymase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735367	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:10534	stomach cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:1324	lung cancer		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:1909	melanoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:3275	thymoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5041	esophageal cancer		ISO	RGD:1322495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155314	PAPLN	papilin, proteoglycan like sulfated glycoprotein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155352	NRK	Nik related kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155352	NRK	Nik related kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155352	NRK	Nik related kinase	gene	DOID:1115	sarcoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155352	NRK	Nik related kinase	gene	DOID:12849	autistic disorder		ISO	RGD:1344667	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism	
12155352	NRK	Nik related kinase	gene	DOID:1324	lung cancer		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12155352	NRK	Nik related kinase	gene	DOID:1909	melanoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155352	NRK	Nik related kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12155352	NRK	Nik related kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155352	NRK	Nik related kinase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12155352	NRK	Nik related kinase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12155352	NRK	Nik related kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155352	NRK	Nik related kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:10534	stomach cancer		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:1115	sarcoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:1324	lung cancer		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:5041	esophageal cancer		ISO	RGD:731521	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:5419	schizophrenia		ISO	RGD:731521	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155393	RGS12	regulator of G protein signaling 12	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731521	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155428	MLEC	malectin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155428	MLEC	malectin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155428	MLEC	malectin	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155428	MLEC	malectin	gene	DOID:3275	thymoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155428	MLEC	malectin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155428	MLEC	malectin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155428	MLEC	malectin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155428	MLEC	malectin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354476	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:0060361	punctate palmoplantar keratoderma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Punctate palmoplantar hyperkeratosis	PMID:23448244|PMID:25741868
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:0080214	punctate palmoplantar keratoderma type I		ISO	RGD:1605954	D	RGD:7240710	20180130	OMIM			
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:0080214	punctate palmoplantar keratoderma type I		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA, PUNCTATE TYPE IA | ClinVar Annotator: match by term: Palmoplantar keratoderma, punctate type 1A | ClinVar Annotator: match by term: palmoplantar keratoderma, punctate type 1A	PMID:17576681|PMID:23000146|PMID:23064416|PMID:23448244|PMID:23563198|PMID:23633024|PMID:24390136|PMID:25741868|PMID:28492532|PMID:30451279|PMID:31526046|PMID:9536098
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:10534	stomach cancer		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:13197	nodular goiter		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nodular goiter	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:1697	ichthyosis		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:23448244|PMID:25741868
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:3070	high grade glioma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:1605954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma	PMID:25741868
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:9002223	Diffuse Palmoplantar Keratoderma		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diffuse palmoplantar hyperkeratosis	PMID:23448244|PMID:25741868
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155442	AAGAB	alpha and gamma adaptin binding protein	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1605954	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast neoplasm	
12155460	ATF3	activating transcription factor 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25136830
12155460	ATF3	activating transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155460	ATF3	activating transcription factor 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:10198	D	RGD:9068941	20200609	RGD			PMID:26522727|REF_RGD_ID:13506817
12155460	ATF3	activating transcription factor 3	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:735760	D	RGD:9068941	20200609	RGD			PMID:26522727|REF_RGD_ID:13506817
12155460	ATF3	activating transcription factor 3	gene	DOID:10283	prostate cancer	treatment	ISO	RGD:735760	D	RGD:9068941	20200609	RGD			PMID:26944919|REF_RGD_ID:13506816
12155460	ATF3	activating transcription factor 3	gene	DOID:10892	hypospadias		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18001166
12155460	ATF3	activating transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155460	ATF3	activating transcription factor 3	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:735760	D	RGD:9068941	20200702	RGD		mRNA,protein:increased expression:lung	PMID:20856677|REF_RGD_ID:34888225
12155460	ATF3	activating transcription factor 3	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12374626
12155460	ATF3	activating transcription factor 3	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043644
12155460	ATF3	activating transcription factor 3	gene	DOID:574	peripheral nervous system disease		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17686523
12155460	ATF3	activating transcription factor 3	gene	DOID:863	nervous system disease		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18701217|PMID:18754875
12155460	ATF3	activating transcription factor 3	gene	DOID:9001488	Human Influenza		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12155460	ATF3	activating transcription factor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12155460	ATF3	activating transcription factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16516039
12155460	ATF3	activating transcription factor 3	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:735760	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: therapeutic	PMID:40010574
12155460	ATF3	activating transcription factor 3	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15674352
12155460	ATF3	activating transcription factor 3	gene	DOID:9003936	Cardiomegaly		ISO	RGD:735760	D	RGD:9068941	20200609	RGD			PMID:11485922|REF_RGD_ID:7327201
12155460	ATF3	activating transcription factor 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12155460	ATF3	activating transcription factor 3	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:735760	D	RGD:9068941	20220114	CTD		CTD Direct Evidence: marker/mechanism	PMID:34364923
12155460	ATF3	activating transcription factor 3	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2165	D	RGD:9068941	20200609	RGD			PMID:11485922|REF_RGD_ID:7327201
12155460	ATF3	activating transcription factor 3	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735760	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:16250003|PMID:20145306|PMID:20506408|PMID:22881376|PMID:25741868|PMID:25741890|PMID:27050191|PMID:28492532|PMID:30586733|PMID:31589614|PMID:32015373|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0050425	restless legs syndrome		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Restless legs	PMID:25741868|PMID:28492532|PMID:36229376
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0050823	third-degree atrioventricular block		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Third degree atrioventricular block	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0051061	stroke	susceptibility	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns: (rs2738446, rs2738450) (human)	PMID:19589204|REF_RGD_ID:5490232
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0051062	ischemic stroke		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:10407508|PMID:10422803|PMID:10657581|PMID:10790219|PMID:10978268|PMID:11196104|PMID:11317362|PMID:11381031|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:1319734|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14974088|PMID:14993243|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15823280|PMID:15952897|PMID:16314194|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17044844|PMID:17335829|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17765246|PMID:18263977|PMID:18279815|PMID:18325082|PMID:18700895|PMID:18718593|PMID:19026292|PMID:19040724|PMID:19318025|PMID:19319977|PMID:1959928|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20045108|PMID:20145306|PMID:2029498|PMID:20538126|PMID:20663204|PMID:20809525|PMID:2088165|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21722902|PMID:21865347|PMID:22081141|PMID:22294733|PMID:22390909|PMID:22487947|PMID:22698793|PMID:23375686|PMID:23535506|PMID:23680767|PMID:23833242|PMID:24033266|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24529145|PMID:25378237|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26343872|PMID:26467025|PMID:26608663|PMID:26666465|PMID:26723464|PMID:26802169|PMID:26892515|PMID:27247956|PMID:2760205|PMID:27765764|PMID:27784735|PMID:27816806|PMID:27824480|PMID:28104544|PMID:28145427|PMID:28161202|PMID:28235710|PMID:28379029|PMID:28391882|PMID:28492532|PMID:28502510|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28965616|PMID:29353225|PMID:29531935|PMID:29870584|PMID:30179711|PMID:3025214|PMID:30270055|PMID:30512145|PMID:30592178|PMID:30592719|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31153816|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:32041611|PMID:32231684|PMID:32331935|PMID:32423031|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33087929|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33533259|PMID:33740630|PMID:33794673|PMID:33955087|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34182004|PMID:34297352|PMID:34321884|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34834584|PMID:34906454|PMID:35339733|PMID:35631530|PMID:35741760|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36499307|PMID:36648309|PMID:36752612|PMID:36901902|PMID:37568561|PMID:37967952|PMID:40769381|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7894220|PMID:7947594|PMID:7979249|PMID:8096412|PMID:8828982|PMID:9016531|PMID:9104431|PMID:9259195|PMID:9399845|PMID:9452095|PMID:9484998|PMID:9654205|PMID:9664576|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:10864	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:2998	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		protein:decreased expression: liver (rat)	PMID:20028367|REF_RGD_ID:21410185
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0080204	renal hypoplasia		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:10978268|PMID:11317361|PMID:11462246|PMID:11810272|PMID:1301956|PMID:15015036|PMID:17347910|PMID:19837725|PMID:21925044|PMID:22390909|PMID:23130880|PMID:23375686|PMID:24404629|PMID:25463123|PMID:25741868|PMID:26361156|PMID:26467025|PMID:27578104|PMID:27765764|PMID:27783906|PMID:27824480|PMID:28492532|PMID:28965616|PMID:32719484|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33303402|PMID:33454241|PMID:33794673|PMID:34037665|PMID:34426522|PMID:34496902|PMID:35052492|PMID:35626767|PMID:37409534|PMID:37850379|PMID:9259195|PMID:9544850|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20938947|PMID:23127599|PMID:23285030
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0080600	COVID-19		ISO	RGD:735594	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:1000167|PMID:10081189|PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208490|PMID:10357843|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11462246|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12124988|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:1453433|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15914792|PMID:15952897|PMID:15998910|PMID:16099208|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16630895|PMID:16740646|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17452316|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:23936638|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24234650|PMID:24281370|PMID:24503134|PMID:24507775|PMID:24561735|PMID:24627126|PMID:24632281|PMID:24916650|PMID:24956927|PMID:2506353|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25682442|PMID:2569482|PMID:25741862|PMID:25741868|PMID:25741871|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26228681|PMID:26238499|PMID:26343872
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:26415676|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26892515|PMID:26894473|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27185354|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27596133|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27831900|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28179607|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30016271|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31727422|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:322919|PMID:32331935|PMID:32423031|PMID:32505727|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32977124|PMID:32989269|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33211673|PMID:33226606|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33740630|PMID:33746137|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34234266|PMID:34297352|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34570182|PMID:34573395|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35249492|PMID:35339733|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35741760|PMID:35795214|PMID:35913489|PMID:35928446|PMID:36011335|PMID:36172582|PMID:36226792|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36727130|PMID:36901902|PMID:36960729|PMID:37119068|PMID:37129685|PMID:37719435|PMID:37805670|PMID:3815525|PMID:3816797|PMID:4061491|PMID:4061492|PMID:484703|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7903269|PMID:7903864|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8292093|PMID:8314561|PMID:8347689|PMID:8478013|PMID:8535447|PMID:8645371|PMID:8645375|PMID:8697568|PMID:8828981|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8882879|PMID:8911609|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:10090473|PMID:10208479|PMID:10357843|PMID:10487495|PMID:10532689|PMID:10559517|PMID:10657581|PMID:10668928|PMID:10735632|PMID:10790219|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11585102|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12124988|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1438159|PMID:14508510|PMID:14749324|PMID:14974088|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15321837|PMID:15359125|PMID:15556093|PMID:15556094|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15952897|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16343504|PMID:16389549|PMID:16542394|PMID:16630895|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17150201|PMID:17347910|PMID:17406740|PMID:17426749|PMID:17452316|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18325082|PMID:18503695|PMID:18700895|PMID:18718593|PMID:18757057|PMID:18929537|PMID:19007590|PMID:19026292|PMID:19040724|PMID:19208450|PMID:19318025|PMID:19361455|PMID:19446849|PMID:19487412|PMID:19602640|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20145306|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21146822|PMID:21310417|PMID:21376320|PMID:21382890|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21865347|PMID:21868016|PMID:21935675|PMID:21955034|PMID:22081141|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23064986|PMID:2318961|PMID:23375686|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24507775|PMID:24561735|PMID:24627126|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26046366|PMID:26077743|PMID:26228681|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26748104|PMID:26892515|PMID:27050191|PMID:27206935|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27821657|PMID:27824480|PMID:28008010|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28353356|PMID:28379029|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28874442|PMID:28932795|PMID:28964736|PMID:28965616|PMID:29192238|PMID:29245966|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30179711|PMID:30270055|PMID:30270083|PMID:30270359|PMID:30293936|PMID:30400955|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30710474|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31653860|PMID:31727422|PMID:31947532|PMID:3198114|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32331935|PMID:32423031|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675963|PMID:32695144|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33461934|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34363016|PMID:34407635|PMID:34428338|PMID:34456049|PMID:34834584|PMID:34875256|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35339733|PMID:35480308|PMID:35741760|PMID:35913489|PMID:35928446|PMID:36105085|PMID:36226792|PMID:36229376
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia	PMID:36325061|PMID:36464169|PMID:36499307|PMID:36648309|PMID:36752612|PMID:36901902|PMID:36960729|PMID:36991406|PMID:37119068|PMID:37370883|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37967952|PMID:38014132|PMID:38122934|PMID:38255840|PMID:38311417|PMID:39731075|PMID:39815304|PMID:41166440|PMID:6091915|PMID:7298845|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7718019|PMID:7749819|PMID:7979249|PMID:8347689|PMID:8535447|PMID:8829662|PMID:8831933|PMID:8882879|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9254862|PMID:9259195|PMID:9399845|PMID:9409298|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9698020|PMID:9727746|PMID:9763532|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:10081189|PMID:10090473|PMID:10090484|PMID:10208479|PMID:10422804|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:10611908|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735632|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10933493|PMID:10978268|PMID:11005141|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11585102|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12124988|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12492446|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:14209286|PMID:1438159|PMID:14508510|PMID:1453433|PMID:14749324|PMID:14974088|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15523646|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15823276|PMID:15823280|PMID:15952897|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16343504|PMID:16389549|PMID:16542394|PMID:16630895|PMID:16792510|PMID:16801348|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17347910|PMID:17406740|PMID:17426749|PMID:17452316|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18239150|PMID:18325082|PMID:18503695|PMID:18700895|PMID:18718593|PMID:18929537|PMID:19007590|PMID:19026292|PMID:19040724|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19446849|PMID:19487412|PMID:1959928|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21146822|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21935675|PMID:21955034|PMID:21990180|PMID:22081141|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:2318961|PMID:23375686|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24234650|PMID:24404629|PMID:24507775|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24956927|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25618577|PMID:25637381|PMID:25647241|PMID:25682442|PMID:25741868|PMID:25741871|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26046366|PMID:26077743|PMID:26343872|PMID:26361156|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26748104|PMID:26795593|PMID:26892515|PMID:26927322|PMID:27050191|PMID:27062410|PMID:27206935|PMID:27247956|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28179607|PMID:28235710|PMID:28349240|PMID:28353356|PMID:28391882|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:28958330|PMID:28958694|PMID:28964736|PMID:28965616|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29724976|PMID:29870584|PMID:29874871|PMID:30016271|PMID:30179711|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270083|PMID:30270084|PMID:30293248|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30637778|PMID:30710474|PMID:30795984|PMID:30827231|PMID:31102204|PMID:31106297|PMID:31327807|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741
12155481	LDLR	low density lipoprotein receptor	gene	DOID:0090105	autosomal recessive hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia - homozygous | ClinVar Annotator: match by term: Homozygous familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4	PMID:31578082|PMID:31653860|PMID:31727422|PMID:31947532|PMID:3198114|PMID:32041611|PMID:32044282|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32331935|PMID:32423031|PMID:32660911|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33461934|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33624064|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34100221|PMID:34167030|PMID:34234266|PMID:34297352|PMID:34321884|PMID:34363016|PMID:34407635|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34573395|PMID:34834584|PMID:34875256|PMID:34906454|PMID:3494949|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35339733|PMID:35480308|PMID:35568682|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:36105085|PMID:36226792|PMID:36229376|PMID:36299643|PMID:36325061|PMID:36499307|PMID:36507290|PMID:36648309|PMID:36752612|PMID:36901902|PMID:36960729|PMID:36991406|PMID:37370883|PMID:37409534|PMID:37589137|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37967952|PMID:38014132|PMID:38122934|PMID:38255840|PMID:38311417|PMID:38425725|PMID:38523000|PMID:39535057|PMID:39731075|PMID:39815304|PMID:40769381|PMID:41166440|PMID:41287107|PMID:7298845|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7718019|PMID:7749819|PMID:7903864|PMID:7979249|PMID:8347689|PMID:8535447|PMID:8697568|PMID:8828981|PMID:8829662|PMID:8831933|PMID:9007329|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9104431|PMID:9254862|PMID:9259195|PMID:9399845|PMID:9409298|PMID:9452095|PMID:9536098|PMID:9544745|PMID:9664576|PMID:9698020|PMID:9712531|PMID:9763532|PMID:9767373|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10230	aortic atherosclerosis		ISO	RGD:2998	D	RGD:9068941	20211112	RGD			PMID:29459263|REF_RGD_ID:13703129
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10534	stomach cancer		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1059	intellectual disability		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10338098|PMID:10978268|PMID:11317361|PMID:11668627|PMID:11810272|PMID:11857755|PMID:12436241|PMID:1301956|PMID:14974088|PMID:15015036|PMID:15199436|PMID:15241806|PMID:15576851|PMID:17539906|PMID:19717150|PMID:19837725|PMID:19843101|PMID:20236128|PMID:2088165|PMID:21865347|PMID:22371747|PMID:22883975|PMID:23375686|PMID:24055113|PMID:24529145|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25741868|PMID:25741873|PMID:26467025|PMID:27050191|PMID:27765764|PMID:27783906|PMID:28145427|PMID:28470529|PMID:28492532|PMID:28965616|PMID:29874871|PMID:30586733|PMID:30710474|PMID:31106925|PMID:31447099|PMID:31993549|PMID:32015373|PMID:32041611|PMID:32522009|PMID:32719484|PMID:32770674|PMID:32977124|PMID:33854068|PMID:34029164|PMID:34037665|PMID:34906454|PMID:34906840|PMID:35194765|PMID:35460704|PMID:35795214|PMID:35913489|PMID:37409534|PMID:37443404|PMID:38506081|PMID:38740897|PMID:8683740|PMID:9259195|PMID:9544850|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1059	intellectual disability		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10338098|PMID:10978268|PMID:11317361|PMID:11810272|PMID:12436241|PMID:1301956|PMID:14974088|PMID:15199436|PMID:15241806|PMID:19717150|PMID:19837725|PMID:2088165|PMID:21865347|PMID:22371747|PMID:23375686|PMID:24529145|PMID:25487149|PMID:25647241|PMID:25741868|PMID:25741873|PMID:26467025|PMID:27765764|PMID:28470529|PMID:28492532|PMID:28965616|PMID:29874871|PMID:30710474|PMID:31106925|PMID:32041611|PMID:32770674|PMID:32977124|PMID:35194765|PMID:35795214|PMID:8683740|PMID:9259195|PMID:9544850|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10864	D	RGD:9068941	20200609	RGD			PMID:21755005|REF_RGD_ID:5490231
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs5925, rs2738444, rs11669576 (human)	PMID:17239995|REF_RGD_ID:5490239
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon (human)	PMID:15689450|REF_RGD_ID:5490242
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)	PMID:15585340|REF_RGD_ID:5490244
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5927, rs5930 (human)	PMID:16378661|REF_RGD_ID:5490243
12155481	LDLR	low density lipoprotein receptor	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:rs5925, rs5930, rs11669576 (human)	PMID:16741934|REF_RGD_ID:5490241
12155481	LDLR	low density lipoprotein receptor	gene	DOID:11100	Q fever		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16469060
12155481	LDLR	low density lipoprotein receptor	gene	DOID:11342	arcus senilis		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arcus senilis | ClinVar Annotator: match by term: Corneal arcus	PMID:10206683|PMID:10978268|PMID:11295843|PMID:11317362|PMID:11462246|PMID:11737238|PMID:11754108|PMID:12417285|PMID:12436241|PMID:12492446|PMID:1301956|PMID:14974088|PMID:15199436|PMID:15359125|PMID:16199547|PMID:16250003|PMID:16465405|PMID:16542394|PMID:17094996|PMID:17196209|PMID:17347910|PMID:17765246|PMID:18022922|PMID:18325082|PMID:18503695|PMID:19026292|PMID:19318025|PMID:19446849|PMID:19843101|PMID:20236128|PMID:20809525|PMID:20828696|PMID:21310417|PMID:2153120|PMID:21531209|PMID:22698793|PMID:22881376|PMID:22883975|PMID:23375686|PMID:23535506|PMID:23833242|PMID:24033266|PMID:24627126|PMID:25487149|PMID:25525159|PMID:25637381|PMID:25647241|PMID:25741868|PMID:26020417|PMID:26220972|PMID:26343872|PMID:26467025|PMID:27542166|PMID:27765764|PMID:27824480|PMID:28008010|PMID:28161202|PMID:28492532|PMID:28645073|PMID:29353225|PMID:29396260|PMID:29502162|PMID:30293936|PMID:30312929|PMID:30415195|PMID:30586733|PMID:30592178|PMID:30710474|PMID:31345425|PMID:31371270|PMID:31447099|PMID:31491741|PMID:31980526|PMID:32041611|PMID:32163632|PMID:32331935|PMID:32719484|PMID:32820175|PMID:32977124|PMID:33418990|PMID:33508743|PMID:33624064|PMID:33740630|PMID:33955087|PMID:34037665|PMID:34100221|PMID:34297352|PMID:34379075|PMID:34456200|PMID:35101175|PMID:36507290|PMID:36752612|PMID:37129685|PMID:39731075|PMID:7548065|PMID:7603991|PMID:7979249|PMID:8697568|PMID:8828981|PMID:9026534|PMID:9698020|PMID:9712531|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10882754|PMID:11196104|PMID:11668627|PMID:11845603|PMID:12436241|PMID:15199436|PMID:15200491|PMID:15241806|PMID:16205024|PMID:16250003|PMID:16389549|PMID:17955342|PMID:18718593|PMID:18929537|PMID:19007590|PMID:19208450|PMID:20145306|PMID:20809525|PMID:21376320|PMID:21865347|PMID:22883975|PMID:23375686|PMID:23538283|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24507775|PMID:24529145|PMID:24561735|PMID:25257073|PMID:25461735|PMID:25487149|PMID:25637381|PMID:25647241|PMID:25741868|PMID:26077743|PMID:26332594|PMID:26342331|PMID:26467025|PMID:26608663|PMID:26802169|PMID:27578104|PMID:27680772|PMID:27765764|PMID:27784735|PMID:28220743|PMID:28492532|PMID:28502495|PMID:28645073|PMID:30293936|PMID:30400955|PMID:30512145|PMID:31491741|PMID:32220565|PMID:32331935|PMID:32719484|PMID:32906206|PMID:32977124|PMID:33418990|PMID:33508743|PMID:33533259|PMID:33569482|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34040191|PMID:34456049|PMID:34496902|PMID:34906454|PMID:35047021|PMID:35052492|PMID:35101175|PMID:36325061|PMID:36769678|PMID:36973604|PMID:36991406|PMID:37370883|PMID:37739193|PMID:38255840|PMID:38311417|PMID:39815304|PMID:8295321|PMID:9409298|PMID:9544745|PMID:9544746|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:12783	migraine without aura		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:repeat:exon (human)	PMID:12873747|REF_RGD_ID:5490245
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1324	lung cancer		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:7240710	20180130	OMIM			
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22220933|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23815734|PMID:23820649|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24671153|PMID:24722143|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28349240|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29874871|PMID:2988123|PMID:29974534|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31947532|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32113782|PMID:32143996|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32706999|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33079599|PMID:33087929|PMID:33111339|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33418990|PMID:3343347|PMID:33508743|PMID:33740630|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34456200|PMID:3472763|PMID:3475071|PMID:34906454|PMID:34998859|PMID:3549308|PMID:35535697|PMID:3572996|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6324732|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12112655|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30332439|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6091915
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:3572996|PMID:35929461|PMID:3627182|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:3627182|PMID:36325061|PMID:36499307
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35929461|PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35339733|PMID:35460704|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35929461
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:36226792|PMID:36229376|PMID:3627182|PMID:36325061|PMID:36499307|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35076666|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379578|PMID:35460704
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1	PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35130036|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36499307|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:37397863|PMID:3815525|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37719435|PMID:37848354|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1374151|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:3924410|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38245461|PMID:38374534|PMID:3924410|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745271|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:3924410|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:1221619|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1374151|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:2506357|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:3280202|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39481677|PMID:3955657|PMID:40108729|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37937776|PMID:37967952|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39481677|PMID:3955657|PMID:40108729|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503112|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540783|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250610	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10219664|PMID:10224150|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10947889|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11792717|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12673584|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1348044|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14616764|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:14756670|PMID:14767901|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:1634609|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16530458|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:1727071|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17625505|PMID:17673191|PMID:17694954|PMID:17727860|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19674976|PMID:1968060|PMID:19717150|PMID:19763152|PMID:1978630|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23315997|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23430853|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24946816|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25064003|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741874|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27006714|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:2895023|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29057618|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29459468|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30919572|PMID:30949068|PMID:30971288|PMID:30975109|PMID:3104336|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31130284|PMID:31131953|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31689621|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32009526|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32491301|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:32633265|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33408743|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34650182|PMID:34692794|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34774719|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35123858|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:35177841|PMID:35194765|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35850704|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:35999587|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36299643|PMID:36325061|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37225774|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37482509|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37805670|PMID:37808210|PMID:37813054|PMID:37848354|PMID:37903942|PMID:37937776|PMID:37967952|PMID:38003014|PMID:38122934|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38245461|PMID:38258479|PMID:38294787|PMID:38297435|PMID:38374534|PMID:38523000|PMID:38707657|PMID:38828125|PMID:38939573|PMID:39114568|PMID:3924410|PMID:39407785|PMID:39481677|PMID:39531635|PMID:3955657|PMID:40108729|PMID:40131152|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6272292|PMID:6288770|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7298845|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7562961|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7866407|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8103503|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8589690|PMID:8599353|PMID:8634338|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER | ClinVar Annotator: match by term: LDLR-related condition	PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9409302|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9610768|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9671270|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9925649|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10219664|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10669652|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12618273|PMID:12628589|PMID:12673584|PMID:12697994|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1352322|PMID:1362925|PMID:1372927|PMID:1438159|PMID:1446662|PMID:14508510|PMID:14570618|PMID:14624402|PMID:1463746|PMID:14675545|PMID:14749324|PMID:14767901|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:17123536|PMID:1714262|PMID:17142622|PMID:17150201|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17694954|PMID:17727860|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913|PMID:1952806|PMID:19538517|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:2021|PMID:20217239|PMID:20236128|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21911783|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22079632|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22425645|PMID:22461740|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:2324680|PMID:23340035|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23415438|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:23881912|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24632287|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24918045|PMID:24946816|PMID:24956927|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25064003|PMID:25187945|PMID:25234566|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741873|PMID:25741890|PMID:25775905|PMID:25807990|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26666465|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26820372|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27062410|PMID:27135400|PMID:27170061|PMID:27206935|PMID:27206941|PMID:27206942|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27830735|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29057618|PMID:29095814|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29593013|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29937437|PMID:29974534|PMID:30017729|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270087|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31358055|PMID:31371270|PMID:31387896|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31543373|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31685212|PMID:31686828|PMID:31689621|PMID:31691639|PMID:31706281|PMID:31727422|PMID:31737537|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32276786|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:32633265|PMID:3263645|PMID:32660911|PMID:32665702|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32897268|PMID:32906206|PMID:32911577|PMID:32922439|PMID:32946862|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33408743|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33458634|PMID:33461934|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33624064|PMID:33626794|PMID:33668494|PMID:33732287|PMID:3374063|PMID:33740630|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33814196|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34573395|PMID:34615865|PMID:34692794|PMID:34697415|PMID:3472763|PMID:34756585|PMID:34774719|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34875256|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34991937|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35123858|PMID:35130036|PMID:35131226
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition | ClinVar Annotator: match by term: familial hypercholesterolemia | ClinVar Annotator: match by term: hypercholesterolemia, familial, 1	PMID:35137788|PMID:35152178|PMID:35152179|PMID:35177841|PMID:35194765|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35417938|PMID:35441343|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35966514|PMID:36095024|PMID:36105085|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36299643|PMID:3632506|PMID:36325061|PMID:36325897|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37071725|PMID:37119068|PMID:37128917|PMID:37129685|PMID:37185657|PMID:37217153|PMID:37225774|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37443404|PMID:37482509|PMID:37496633|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37728764|PMID:37732177|PMID:37739193|PMID:37805670|PMID:37808210|PMID:37813054|PMID:37848354|PMID:37850379|PMID:37903942|PMID:37937776|PMID:37967952|PMID:38003014|PMID:38014132|PMID:38122934|PMID:38138952|PMID:3815525|PMID:3818645|PMID:38203485|PMID:38243822|PMID:38245461|PMID:38255840|PMID:38258479|PMID:38294787|PMID:38311417|PMID:38374534|PMID:38425725|PMID:38506081|PMID:38507394|PMID:38523000|PMID:38642551|PMID:38658794|PMID:38707657|PMID:38740897|PMID:38759658|PMID:38828125|PMID:38852422|PMID:38879446|PMID:38939573|PMID:38955586|PMID:39020067|PMID:39033325|PMID:39085092|PMID:39114568|PMID:3924410|PMID:39306041|PMID:39331889|PMID:39392848|PMID:39531635|PMID:39535057|PMID:3955657|PMID:39619738|PMID:39731075|PMID:39769230|PMID:39802654|PMID:39815304|PMID:40108729|PMID:40131152|PMID:40157861|PMID:40339360|PMID:4039004|PMID:40428205|PMID:40560421|PMID:40730230|PMID:40769381|PMID:40874855|PMID:41127896|PMID:41166440|PMID:41287107|PMID:41374443|PMID:41542120|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6288770|PMID:6299582|PMID:6324732|PMID:7298845|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7866407|PMID:7903864|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8093663|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8535447|PMID:8546515|PMID:8568489|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8664907|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8784348|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8850176|PMID:8882879|PMID:8911609|PMID:8931648|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9179542|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9262405|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10219664|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10412552|PMID:10421221|PMID:10422802|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10487495|PMID:10529757|PMID:10532689|PMID:10559517|PMID:10563483|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10611909|PMID:10634824|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10669652|PMID:10704205|PMID:1073562|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10926901|PMID:10933493|PMID:10978268|PMID:10980548|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11194027|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11298688|PMID:11298777|PMID:11310584|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11389828|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11675977|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:12009418|PMID:12052488|PMID:12124988|PMID:12205127|PMID:12227864|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12485531|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12618273|PMID:12628589|PMID:12673584|PMID:12697994|PMID:12705331|PMID:12730724|PMID:12820708|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1315570|PMID:1319734|PMID:1352322|PMID:1362925|PMID:1372927|PMID:14209286|PMID:1438159|PMID:1446662|PMID:14508510|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14654040|PMID:14675545|PMID:14749324|PMID:14767901|PMID:1493640|PMID:14974088|PMID:15015036|PMID:15026427|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15477777|PMID:15494314|PMID:15497035|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15637307|PMID:15701167|PMID:15710941|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15842735|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:1609792|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16211558|PMID:16224054|PMID:16250003|PMID:16257961|PMID:16286607|PMID:16314194|PMID:16337207|PMID:16343504|PMID:16389549|PMID:16406299|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16740646|PMID:1677927|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17090611|PMID:17094996|PMID:17123536|PMID:17142622|PMID:17150201|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17399720|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17727860|PMID:17765246|PMID:17895627|PMID:17935672|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:1863993|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18701038|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19367093|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:19520913
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:19763152|PMID:1978682|PMID:19797716|PMID:19827648|PMID:19837725|PMID:19843101|PMID:1998642|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:2015373|PMID:20217239|PMID:20236128|PMID:20307669|PMID:20308432|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20599862|PMID:20663204|PMID:20703241|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:21457052|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21777527|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21911783|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21955034|PMID:21957200|PMID:21990180|PMID:22079632|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22129472|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22406018|PMID:22417841|PMID:22419126|PMID:22425645|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22544571|PMID:22669020|PMID:22683370|PMID:22691586|PMID:22698793|PMID:22826357|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22893714|PMID:22910581|PMID:22922093|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318961|PMID:23244308|PMID:2324680|PMID:23265341|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23415438|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23538283|PMID:23623643|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23881912|PMID:23926208|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24249837|PMID:24281370|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24450200|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24579945|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24632287|PMID:24671153|PMID:24722143|PMID:24785115|PMID:24798328|PMID:24918045|PMID:24934470|PMID:24956927|PMID:25014035|PMID:25043216|PMID:25057385|PMID:25065375|PMID:25187945|PMID:25234566|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25378237|PMID:25386756|PMID:25411050|PMID:25412742|PMID:25414273|PMID:25437892|PMID:2544509|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25624525|PMID:25637381|PMID:25640679|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2570157|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741873|PMID:25741890|PMID:25775905|PMID:25807990|PMID:25841872|PMID:25846081|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25938632|PMID:25962062|PMID:2600087|PMID:26011648|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26283345|PMID:26298359|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26820372|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:26950807|PMID:26986070|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27062410|PMID:27135400|PMID:27153395|PMID:27170061|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760198|PMID:27678436|PMID:27680772|PMID:27765764
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:27777316|PMID:2777800|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27830735|PMID:27831900|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:2805380|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:2831865|PMID:28334946|PMID:28349240|PMID:28353356|PMID:283553356|PMID:2837085|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28619117|PMID:28645073|PMID:28734274|PMID:28761763|PMID:28873201|PMID:28874442|PMID:28895539|PMID:28932795|PMID:28958330|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29057618|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29593013|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:2988123|PMID:29974534|PMID:30016271|PMID:30017729|PMID:3005267|PMID:30108616|PMID:30112042|PMID:3012527|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270087|PMID:30270359|PMID:30292637|PMID:30293248|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31131953|PMID:31153816|PMID:31327807|PMID:31345425|PMID:31371270|PMID:31387896|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31543373|PMID:3155573|PMID:31578082|PMID:31587492|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31685212|PMID:31686828|PMID:31689621|PMID:31691639|PMID:31706281|PMID:31727422|PMID:31737537|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32120369|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32522009|PMID:32581083|PMID:32633265|PMID:3263645|PMID:32660911|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32846800|PMID:32897268|PMID:32906206|PMID:32911577|PMID:32922439|PMID:32946862|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33134466|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33408743|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33458634|PMID:33461934|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33601267|PMID:33624064|PMID:33626794|PMID:33668494|PMID:33732287|PMID:3374063|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33814196|PMID:33854068|PMID:33890362|PMID:33892292|PMID:3391282|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:34176852|PMID:34182004|PMID:34220717|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:34496902|PMID:34497632|PMID:34511120|PMID:34521694|PMID:34573395|PMID:34615865|PMID:34692794|PMID:34697415|PMID:3472763|PMID:34756585|PMID:34774719|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34875256|PMID:34906454|PMID:34906840|PMID:3495735|PMID:34961661|PMID:34970301|PMID:34991937|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35074074|PMID:35076666|PMID:35101175|PMID:35123858|PMID:35130036|PMID:35131226|PMID:35137788|PMID:35152178|PMID:35152179|PMID:35177841|PMID:35194765|PMID:35222550|PMID:35249492|PMID:35257483|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35417938|PMID:35441343|PMID:35460704|PMID:35474963|PMID:35480308|PMID:3549308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35727495|PMID:3572996|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35929461|PMID:35966514|PMID:36011335|PMID:36095024|PMID:36105085|PMID:36172582|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:3627182|PMID:36299643|PMID:3632506|PMID:36325061|PMID:36325897|PMID:36329474|PMID:36338372|PMID:36422519|PMID:36446894|PMID:36464169|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37128917|PMID:37185657|PMID:37186395|PMID:37217153|PMID:37225774|PMID:37305647|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37443404|PMID:37482509|PMID:37496633|PMID:37511194|PMID:37565868|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37728764|PMID:37732177|PMID:37739193|PMID:37805670|PMID:37808210|PMID:37813054|PMID:37848354|PMID:37850379|PMID:37853441|PMID:37903942|PMID:37937776|PMID:37967952|PMID:38003014|PMID:38014132|PMID:38122934|PMID:38138952|PMID:3815525|PMID:3816797|PMID:3818645|PMID:38203485|PMID:38243822|PMID:38245461|PMID:38255840|PMID:38258479|PMID:38294787|PMID:38311417|PMID:38374534|PMID:38425725|PMID:38506081|PMID:38507394|PMID:38523000|PMID:38642551|PMID:38658794|PMID:38707657|PMID:38740897|PMID:38759658|PMID:38828125|PMID:38852422|PMID:38879446|PMID:38939573|PMID:38955586|PMID:39020067|PMID:39033325|PMID:39085092|PMID:39114568|PMID:3924410|PMID:39244851|PMID:39331889|PMID:39392848|PMID:39407785|PMID:39531635|PMID:39535057|PMID:3955657|PMID:39619738|PMID:39731075|PMID:39769230|PMID:39802654|PMID:39815304|PMID:40108729|PMID:40131152|PMID:40157861|PMID:40283609|PMID:40339360|PMID:4039004|PMID:40428205|PMID:40560421|PMID:40730230|PMID:40769381|PMID:40874855|PMID:41127896|PMID:41166440|PMID:41287107|PMID:41374443|PMID:41542120|PMID:4319990|PMID:4750422|PMID:6091915|PMID:6288770|PMID:6299582|PMID:6324732|PMID:7298845|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7557960|PMID:7573037|PMID:7581403|PMID:7583548|PMID:7586640|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7635482|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718023|PMID:7718024|PMID:7749819|PMID:7773731|PMID:7789953|PMID:7866407|PMID:7903864|PMID:7947594|PMID:7979249|PMID:7981713|PMID:7989866|PMID:8004803|PMID:8054972|PMID:8093663|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8218110|PMID:8225312|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8401534|PMID:8409767|PMID:8462973|PMID:8535447|PMID:8546515|PMID:8568489|PMID:8599353|PMID:8634338|PMID:8645371|PMID:8664907|PMID:8678915|PMID:8683740|PMID:8697568|PMID:8740918|PMID:8792825|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8844215|PMID:8879444|PMID:8882879|PMID:8931648|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9157944|PMID:9179542|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9254862|PMID:9259195|PMID:9261272|PMID:9272705|PMID:9375633|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544745|PMID:9544746
12155481	LDLR	low density lipoprotein receptor	gene	DOID:13810	familial hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial Hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Familial hypercholesterolemias | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, 1 | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 | ClinVar Annotator: match by term: LDLR-related condition	PMID:9544850|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9684750|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9889019|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:14692	Smith-Lemli-Opitz syndrome		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: RSH syndrome	PMID:10208499|PMID:12730724|PMID:15701167|PMID:17445538|PMID:17694954|PMID:25741868|PMID:28492532|PMID:34906454
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1827	generalized epilepsy		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:10735632|PMID:11810272|PMID:1301956|PMID:15199436|PMID:16250003|PMID:19026292|PMID:20506408|PMID:21382890|PMID:22390909|PMID:23833242|PMID:25412742|PMID:25741868|PMID:28492532|PMID:28502510|PMID:29724976|PMID:30179711|PMID:33955087|PMID:38014132|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:735594	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:exon, 3' utr (human)	PMID:12209363|REF_RGD_ID:5490246
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1909	melanoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:1936	atherosclerosis		ISO	RGD:735594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:10657581|PMID:18247305|PMID:19073363|PMID:20809525|PMID:23375686|PMID:25741868|PMID:25846081|PMID:26467025|PMID:27170061|PMID:27206941|PMID:28235710|PMID:28492532|PMID:28502495|PMID:28645073|PMID:29233637|PMID:30526649|PMID:33994402|PMID:34037665|PMID:34456049|PMID:38003014|PMID:7903864
12155481	LDLR	low density lipoprotein receptor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:2349	arteriosclerosis		ISO	RGD:735594	D	RGD:9068941	20200609	RGD			PMID:12969990|REF_RGD_ID:1581826
12155481	LDLR	low density lipoprotein receptor	gene	DOID:2355	anemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:10668928|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:22294733|PMID:23375686|PMID:25463123|PMID:25741868|PMID:26467025|PMID:27578104|PMID:28353356|PMID:28492532|PMID:28964736|PMID:30293936|PMID:30710474|PMID:31345425|PMID:31947532|PMID:32660911|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:36960729|PMID:7635461|PMID:9536098
12155481	LDLR	low density lipoprotein receptor	gene	DOID:2841	asthma		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:3145	hyperlipoproteinemia type III		ISO	RGD:735594	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia	PMID:20809525|PMID:25741868|PMID:28492532|PMID:28645073|PMID:33740630
12155481	LDLR	low density lipoprotein receptor	gene	DOID:3275	thymoma		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:3345	xanthomatosis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Xanthomas | ClinVar Annotator: match by term: Xanthomatosis	PMID:11668627|PMID:12436241|PMID:16205024|PMID:19208450|PMID:19318025|PMID:19446849|PMID:20145306|PMID:21865347|PMID:22883975|PMID:23375686|PMID:24075752|PMID:25545329|PMID:25741868|PMID:26077743|PMID:26467025|PMID:26608663|PMID:27578128|PMID:27765764|PMID:27784735|PMID:28492532|PMID:28965616|PMID:30293936|PMID:30400955|PMID:30512145|PMID:32220565|PMID:32757650|PMID:32977124|PMID:33418990|PMID:33569482|PMID:33740630|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34456049|PMID:34906454|PMID:35101175|PMID:36325061|PMID:36991406|PMID:38255840|PMID:38311417|PMID:38523000|PMID:39815304
12155481	LDLR	low density lipoprotein receptor	gene	DOID:3393	coronary artery disease		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990|PMID:27135400
12155481	LDLR	low density lipoprotein receptor	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:735594	D	RGD:9068941	20200609	RGD			PMID:16459141|REF_RGD_ID:1581823
12155481	LDLR	low density lipoprotein receptor	gene	DOID:4362	cervical cancer		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:4481	allergic rhinitis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Allergic rhinitis	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:5041	esophageal cancer		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:5082	liver cirrhosis		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108984
12155481	LDLR	low density lipoprotein receptor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:557	kidney disease		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:10978268|PMID:11317361|PMID:11462246|PMID:11810272|PMID:1301956|PMID:15015036|PMID:17347910|PMID:19837725|PMID:21925044|PMID:22390909|PMID:23130880|PMID:23375686|PMID:24404629|PMID:25463123|PMID:25741868|PMID:26361156|PMID:26467025|PMID:27578104|PMID:27765764|PMID:27783906|PMID:27824480|PMID:28492532|PMID:28965616|PMID:32719484|PMID:32770674|PMID:32829317|PMID:32977124|PMID:33303402|PMID:33454241|PMID:33794673|PMID:34037665|PMID:34426522|PMID:34496902|PMID:35052492|PMID:35626767|PMID:37409534|PMID:37850379|PMID:9259195|PMID:9544850|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:5844	myocardial infarction		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Myocardial infarction	PMID:10570905|PMID:10882754|PMID:11810272|PMID:11851376|PMID:12459547|PMID:1301956|PMID:17196209|PMID:17347910|PMID:18096825|PMID:19318025|PMID:20030366|PMID:20045108|PMID:20089850|PMID:20506408|PMID:20809525|PMID:21310417|PMID:21511053|PMID:21642693|PMID:22390909|PMID:22698793|PMID:22881376|PMID:23064986|PMID:23375686|PMID:23769672|PMID:24033266|PMID:24507775|PMID:25257073|PMID:25461735|PMID:25487149|PMID:25525159|PMID:25741868|PMID:26467025|PMID:26892515|PMID:27765764|PMID:27824480|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29192238|PMID:30586733|PMID:31106297|PMID:31447099|PMID:32041611|PMID:32719484|PMID:32977124|PMID:33303402|PMID:33740630|PMID:33994402|PMID:34037665|PMID:34234266|PMID:34363016|PMID:34456049|PMID:35137788|PMID:35339733|PMID:35480308|PMID:36752612|PMID:37967952|PMID:7489239
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000351	Diarrhea 9		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Chronic diarrhea	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000528	Coronary Disease		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-onset coronary artery disease	PMID:10422804|PMID:11810272|PMID:11845603|PMID:12124988|PMID:17765246|PMID:19318025|PMID:20506408|PMID:21382890|PMID:21642693|PMID:23375686|PMID:24033266|PMID:25487149|PMID:25647241|PMID:25741868|PMID:26467025|PMID:28161202|PMID:28492532|PMID:28895539|PMID:29353225|PMID:29396260|PMID:30293936|PMID:30312929|PMID:30637778|PMID:32719484|PMID:33418990|PMID:33454241|PMID:33740630|PMID:34037665|PMID:35339733|PMID:35568682|PMID:35910211|PMID:36105085|PMID:36499307|PMID:37409534|PMID:37589137|PMID:39731075|PMID:9712531
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10338098|PMID:10422804|PMID:10447263|PMID:10532689|PMID:10570905|PMID:10611908|PMID:10657581|PMID:10660340|PMID:10668928|PMID:10669652|PMID:10704205|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10882754|PMID:10924730|PMID:10933493|PMID:10978268|PMID:11013454|PMID:11052664|PMID:11139254|PMID:11194025|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11491306|PMID:11506462|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12459547|PMID:12492446|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:14209286|PMID:1438159|PMID:14508510|PMID:1453433|PMID:1463746|PMID:14749324|PMID:14974088|PMID:15015036|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15523646|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15885240|PMID:15890894|PMID:15952897|PMID:16092059|PMID:16159606|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16542394|PMID:16627557|PMID:16630895|PMID:16740646|PMID:16792510|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17673191|PMID:17727860|PMID:17765246|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18247305|PMID:18263977|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18503695|PMID:18700895|PMID:18718593|PMID:18757057|PMID:18929537|PMID:19007590|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19520913|PMID:1952806|PMID:1959928|PMID:19602640|PMID:19717150|PMID:19827648|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20030366|PMID:20045108|PMID:20089850|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:20428891|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22160468|PMID:22294733|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22528129|PMID:22544571|PMID:22683370|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23158915|PMID:2318961|PMID:233740630|PMID:23375686|PMID:2352257|PMID:23535506|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24163242|PMID:24234650|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24785115|PMID:24956927|PMID:25014035|PMID:252092|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741871|PMID:25741873|PMID:25741890|PMID:25807990|PMID:25846081|PMID:25911074|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26077743|PMID:26220972|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:26748104|PMID:26802169|PMID:26892515|PMID:26894473|PMID:26927322|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27062410|PMID:27170061|PMID:27206935|PMID:27206941|PMID:27247956|PMID:27294413|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27578128|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27830735|PMID:27884173|PMID:27919346|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28349240|PMID:28353356|PMID:28379029|PMID:28391882|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958330|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29172679|PMID:29192238|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29292049|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29576406|PMID:29724976|PMID:29870584|PMID:29874871|PMID:29974534|PMID:30016271|PMID:30108616|PMID:30179711|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293248|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30649024|PMID:30710474|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30971288|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31327807|PMID:31345425|PMID:31371270|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31653860|PMID:31691639|PMID:31706281|PMID:31893465|PMID:31947532|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32104752|PMID:32120369|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32331935|PMID:32423031|PMID:32522009|PMID:32660911|PMID:32695144|PMID:32710294|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32793292|PMID:32829317|PMID:32906206|PMID:32911577|PMID:32922439|PMID:32977124|PMID:32989269|PMID:33079599|PMID:33087929|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33569482|PMID:33599434|PMID:33624064|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34697415|PMID:34774719|PMID:34834584|PMID:34906454|PMID:34906840|PMID:34961661|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:35152178|PMID:35194765|PMID:35274909|PMID:35339733|PMID:35460704|PMID:35480308|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36325061|PMID:36499307|PMID:36507290|PMID:36648309|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36991406|PMID:37119068|PMID:37128917|PMID:37225774|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37850379|PMID:37967952|PMID:38003014|PMID:38014132|PMID:38122934|PMID:38245461|PMID:38255840|PMID:38311417|PMID:38523000|PMID:38828125|PMID:39033325|PMID:39392848|PMID:39531635|PMID:39535057|PMID:39731075|PMID:39769230|PMID:39802654|PMID:39815304|PMID:4061491|PMID:4061492|PMID:40769381|PMID:41166440|PMID:41374443|PMID:41542120|PMID:601|PMID:6091915|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7820934|PMID:7833932|PMID:7903864|PMID:7947594
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolaemia | ClinVar Annotator: match by term: Hypercholesterolemia	PMID:7979249|PMID:8093663|PMID:8295321|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8568489|PMID:8664907|PMID:8683740|PMID:8697568|PMID:8828981|PMID:8829662|PMID:8831933|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9180246|PMID:9212177|PMID:9225977|PMID:9237502|PMID:9259195|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452095|PMID:9452118|PMID:9536098|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9664576|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:11317361|PMID:11668627|PMID:12124988|PMID:1301956|PMID:14974088|PMID:15200491|PMID:15952897|PMID:16250003|PMID:18325082|PMID:19026292|PMID:19060911|PMID:2088165|PMID:22371747|PMID:22883975|PMID:23375686|PMID:25463123|PMID:25741868|PMID:26467025|PMID:27497240|PMID:27765764|PMID:27824480|PMID:28492532|PMID:31345425|PMID:31447099|PMID:32041611|PMID:32220565|PMID:32719484|PMID:32977124|PMID:33807407|PMID:34297352|PMID:34906454|PMID:37370883|PMID:6091915|PMID:7548065|PMID:7603991|PMID:7979249|PMID:9259195
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9002221	Hyperplasia		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207284
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9003370	Dyslipidemias		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyslipidemia	PMID:10066037|PMID:10338098|PMID:10447263|PMID:10532689|PMID:10657581|PMID:10669652|PMID:10735632|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11139254|PMID:11194025|PMID:11196104|PMID:11257257|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11585102|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11810272|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12124988|PMID:12406975|PMID:12436241|PMID:12459547|PMID:12553167|PMID:12837857|PMID:1301940|PMID:1301956|PMID:14209286|PMID:14508510|PMID:1453433|PMID:14570618|PMID:1463746|PMID:14749324|PMID:14974088|PMID:15015036|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15523646|PMID:15556094|PMID:15701167|PMID:15952897|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16630895|PMID:16792510|PMID:16806138|PMID:17087781|PMID:17094996|PMID:17196209|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:18096825|PMID:18239150|PMID:18247305|PMID:18325082|PMID:18700895|PMID:18718593|PMID:19026292|PMID:19060911|PMID:19073363|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:1959928|PMID:19717150|PMID:19837725|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20964105|PMID:21145767|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21520341|PMID:21642693|PMID:21865347|PMID:21925044|PMID:21990180|PMID:22081141|PMID:22160468|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22487947|PMID:22698793|PMID:22881376|PMID:22883975|PMID:23064986|PMID:23130880|PMID:2318961|PMID:23375686|PMID:2352257|PMID:23669246|PMID:23680767|PMID:23769672|PMID:23815734|PMID:23833242|PMID:24033266|PMID:24075752|PMID:24234650|PMID:24404629|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24722143|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25647241|PMID:2565980|PMID:2569482|PMID:25741868|PMID:25741870|PMID:25741873|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26077743|PMID:26220972|PMID:26332594|PMID:26343872|PMID:26361156|PMID:26433113|PMID:26467025|PMID:26608663|PMID:26633542|PMID:26892515|PMID:26894473|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27170061|PMID:27206941|PMID:27247956|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578127|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27824480|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28161202|PMID:28235710|PMID:28353356|PMID:28391882|PMID:28470529|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28502516|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28932795|PMID:28965616|PMID:29192238|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29292049|PMID:29353225|PMID:29399563|PMID:29502162|PMID:29531935|PMID:29693183|PMID:29874871|PMID:29974534|PMID:30179711|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270083|PMID:30270084|PMID:30270359|PMID:30293936|PMID:30400955|PMID:30413722|PMID:30512145|PMID:30526649|PMID:30586733|PMID:30592178|PMID:30710474|PMID:31048103|PMID:31106297|PMID:31106925|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31653860|PMID:31706281|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32220565|PMID:32231684|PMID:32331935|PMID:32423031|PMID:32710294|PMID:32719484|PMID:32770674|PMID:32829317|PMID:32911577|PMID:32922439|PMID:32977124|PMID:33079599|PMID:33087929|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33461934|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33740630|PMID:33794673|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34234266|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34407635|PMID:34426522|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34774719
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9003370	Dyslipidemias		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dyslipidemia	PMID:34834584|PMID:34875256|PMID:34906454|PMID:35052492|PMID:35101175|PMID:35137788|PMID:35152178|PMID:35194765|PMID:35319679|PMID:35339733|PMID:35460704|PMID:35480308|PMID:35626767|PMID:35753512|PMID:35795214|PMID:35913489|PMID:35929461|PMID:36229376|PMID:36229885|PMID:36299643|PMID:36325061|PMID:36499307|PMID:36752612|PMID:36901902|PMID:36991406|PMID:37119068|PMID:37128917|PMID:37225774|PMID:37370883|PMID:37409534|PMID:37568561|PMID:37589137|PMID:37848354|PMID:37850379|PMID:37967952|PMID:38003014|PMID:38245461|PMID:38255840|PMID:38311417|PMID:38523000|PMID:39815304|PMID:41374443|PMID:41542120|PMID:6091915|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7603991|PMID:7649549|PMID:7718024|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8093663|PMID:8399083|PMID:8683740|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9212177|PMID:9259195|PMID:9399845|PMID:9452078|PMID:9452095|PMID:9452118|PMID:9536098|PMID:9544850|PMID:9664576|PMID:9698020|PMID:9763532|PMID:9767373|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2998	D	RGD:9068941	20200609	RGD			PMID:17288738|REF_RGD_ID:2324630
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9004538	Hearing Loss		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:10735632|PMID:11810272|PMID:1301956|PMID:15199436|PMID:16250003|PMID:19026292|PMID:20506408|PMID:21382890|PMID:22390909|PMID:23833242|PMID:25412742|PMID:25741868|PMID:28492532|PMID:28502510|PMID:29724976|PMID:30179711|PMID:33955087|PMID:38014132|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left Ventricular Hypertrophy	PMID:16250003|PMID:20828696|PMID:24033266|PMID:24336170|PMID:24627126|PMID:25487149|PMID:25647241|PMID:25741862|PMID:25741868|PMID:25756439|PMID:25985138|PMID:26467025|PMID:27044878|PMID:27596133|PMID:28492532|PMID:29974534|PMID:32719484|PMID:33508743|PMID:33955087|PMID:34906454|PMID:35474963|PMID:35568682|PMID:35913489|PMID:37719435|PMID:37848354|PMID:37937776
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:12730724|PMID:17445538|PMID:25741868|PMID:28492532|PMID:34906454
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:10864	D	RGD:9068941	20200609	RGD			PMID:18316222|REF_RGD_ID:5490254
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735594	D	RGD:9068941	20231207	CTD		CTD Direct Evidence: therapeutic	PMID:37459939
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10090473|PMID:10090484|PMID:10208479|PMID:10208489|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10532689|PMID:10559517|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10978268|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11196104|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11462246|PMID:11491306|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:12113284|PMID:12124988|PMID:12406975|PMID:12417285|PMID:12436241|PMID:12553167|PMID:12730724|PMID:12837857|PMID:1301940|PMID:1301956|PMID:1319734|PMID:1352322|PMID:14209286|PMID:14508510|PMID:14512370|PMID:1453433|PMID:1463746|PMID:1464748|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15100232|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15359125|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15864114|PMID:15936313|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16466730|PMID:16542394|PMID:16627557|PMID:16796766|PMID:17087781|PMID:17094996|PMID:17142622|PMID:17196209|PMID:17335829|PMID:17347910|PMID:1734910|PMID:17406740|PMID:17426749|PMID:17539906|PMID:17576681|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18503695|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19062533|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19411563|PMID:19446849|PMID:19467224|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:19717150|PMID:1978682|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20045108|PMID:20089850|PMID:20145306|PMID:20236128|PMID:2029498|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21418584|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21642693|PMID:21722902|PMID:21865347|PMID:21925044|PMID:21935675|PMID:21990180|PMID:220236128|PMID:22095935|PMID:22294733|PMID:22353362|PMID:22390909|PMID:22461740|PMID:22487947|PMID:22698793|PMID:22859806|PMID:22881376|PMID:22883975|PMID:23054246|PMID:23064986|PMID:23155708|PMID:2318961|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23669246|PMID:23680767|PMID:23833242|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24281370|PMID:24373485|PMID:24507775|PMID:24627126|PMID:24956927|PMID:25154303|PMID:25257073|PMID:25282520|PMID:25378237|PMID:25412742|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25637381|PMID:25647241|PMID:2569482|PMID:25741868|PMID:25741871|PMID:25911074|PMID:25921077|PMID:25936317|PMID:25962062|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26238499|PMID:26343872|PMID:26433113|PMID:26467025|PMID:26633542|PMID:26723464|PMID:26748104|PMID:26892515|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27206935|PMID:27247956|PMID:2726768|PMID:27542166|PMID:27578127|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27854218|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28235710|PMID:28349240|PMID:28379029|PMID:28391882|PMID:28458923|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28958694|PMID:28964736|PMID:28965616|PMID:2901412|PMID:29083407|PMID:2920733|PMID:29233637|PMID:29261184|PMID:29284604|PMID:29353225|PMID:29407885|PMID:29531935|PMID:29874871|PMID:30112042|PMID:3020025|PMID:30241732|PMID:3025214
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30270055|PMID:30270076|PMID:30293936|PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30312929|PMID:30333156|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30710474|PMID:30795984|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31345425|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31727422|PMID:31980526|PMID:3198114|PMID:32015373|PMID:3202825|PMID:32041611|PMID:32143996|PMID:32220565|PMID:32331935|PMID:32522009|PMID:3263645|PMID:32660911|PMID:32719484|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32922439|PMID:32977124|PMID:33087929|PMID:33111339|PMID:33269076|PMID:33303402|PMID:33418990|PMID:33508743|PMID:33740630|PMID:34037665|PMID:3425583|PMID:3472763|PMID:3815525|PMID:4061492|PMID:6324732|PMID:7489239|PMID:7548065|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7894220|PMID:7903864|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8347689|PMID:8399083|PMID:8535447|PMID:8645371|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9016531|PMID:9026534|PMID:9048913|PMID:9104431|PMID:9157944|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9409298|PMID:9452078|PMID:9452095|PMID:9484998|PMID:9536098|PMID:9544745|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208489|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:1139254|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15633194|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34906454|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26833332|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23536757|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711|PMID:3020025
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32165824|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33994402|PMID:34011801|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35929461|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32163632|PMID:32220565|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34363016|PMID:34426522|PMID:34428338|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35339733|PMID:35460704|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35929461|PMID:36226792|PMID:36229376|PMID:36325061|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8879444|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30017729|PMID:30019023|PMID:30112042|PMID:30179711
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:220236128|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25154303|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2565980|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:26795593|PMID:26802169|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33794673|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34906454|PMID:34906840|PMID:3494949|PMID:35047021|PMID:35052492|PMID:35137788|PMID:35177841|PMID:35222550|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:36105085|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36267056|PMID:36325061|PMID:36507290|PMID:36769678|PMID:36901902|PMID:36973604|PMID:37119068|PMID:3815525|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:9259195|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15359125|PMID:1538685|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:19007590|PMID:19013141|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:19544207|PMID:1959928|PMID:19602640|PMID:1960926|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22160468|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741916|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36499307|PMID:36507290|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:37119068|PMID:37129685|PMID:37719435|PMID:37848354|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa	PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16801348|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:1999337|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:20506408|PMID:20538126|PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23535506|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314561|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8831933|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685|PMID:37397863
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb	PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240521	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:37119068|PMID:37129685
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:37397863|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20538126|PMID:20663204|PMID:20717180|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:2298751|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8314806|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128|PMID:2029498
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER	PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2 | ClinVar Annotator: match by term: LDL RECEPTOR DISORDER	PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25786579|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:27989324|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32695144|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial hypercholesterolemia 2 | ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:38245461|PMID:38374534|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306|PMID:20217239|PMID:20236128
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:2029498|PMID:2030732|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22091758|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25395200|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784|PMID:28334946
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37568561|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:3815525|PMID:3816797|PMID:38245461|PMID:38374534|PMID:38523000|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:1000167|PMID:10064736|PMID:10066037|PMID:10081189|PMID:10089940|PMID:10090473|PMID:10090484|PMID:10200052|PMID:10206683|PMID:10208479|PMID:10208490|PMID:10208499|PMID:10230472|PMID:10334477|PMID:10338098|PMID:10357843|PMID:10407508|PMID:10422803|PMID:10422804|PMID:10428988|PMID:10441197|PMID:10447263|PMID:10484771|PMID:10487495|PMID:10532689|PMID:10559517|PMID:1057090|PMID:10570905|PMID:10611908|PMID:10631147|PMID:10634824|PMID:10657581|PMID:10668928|PMID:10704205|PMID:10735631|PMID:10735632|PMID:10737984|PMID:10782930|PMID:10790219|PMID:10807540|PMID:10878268|PMID:10882754|PMID:10884919|PMID:10924730|PMID:10933493|PMID:10947889|PMID:10978268|PMID:11005141|PMID:11013454|PMID:11031227|PMID:11040093|PMID:11052664|PMID:11139254|PMID:11182933|PMID:11194025|PMID:11196104|PMID:11237541|PMID:11238294|PMID:11257257|PMID:11295843|PMID:11313767|PMID:11317361|PMID:11317362|PMID:11325764|PMID:11373616|PMID:11381031|PMID:11435110|PMID:11462246|PMID:11472754|PMID:11472756|PMID:11484166|PMID:11491306|PMID:11506462|PMID:11524740|PMID:11585102|PMID:11600564|PMID:11641914|PMID:11642133|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11754108|PMID:11810272|PMID:11845603|PMID:11851376|PMID:11857755|PMID:11916007|PMID:11933210|PMID:11939787|PMID:12009418|PMID:12052488|PMID:12055704|PMID:12113284|PMID:12124988|PMID:12181638|PMID:12205127|PMID:1221619|PMID:12406975|PMID:12414836|PMID:12417285|PMID:12436241|PMID:12442279|PMID:12459547|PMID:12473547|PMID:12492446|PMID:12522687|PMID:12553167|PMID:12575931|PMID:12628589|PMID:12730724|PMID:12837857|PMID:12910492|PMID:1301940|PMID:1301956|PMID:1310940|PMID:1319734|PMID:1352322|PMID:1374151|PMID:14209286|PMID:1438159|PMID:14508510|PMID:14512370|PMID:1453433|PMID:14570618|PMID:14624402|PMID:1463746|PMID:1464748|PMID:14673705|PMID:14675545|PMID:14749324|PMID:1493640|PMID:14974088|PMID:14993243|PMID:15015036|PMID:15035285|PMID:15068387|PMID:15100232|PMID:15135252|PMID:15172466|PMID:15199436|PMID:15200491|PMID:15241806|PMID:15256764|PMID:15303010|PMID:15321837|PMID:15359125|PMID:1538685|PMID:15477777|PMID:15494314|PMID:15523646|PMID:15528480|PMID:15556092|PMID:15556093|PMID:15556094|PMID:15576851|PMID:15701167|PMID:15741231|PMID:15823276|PMID:15823280|PMID:15823288|PMID:15864114|PMID:15885240|PMID:15890894|PMID:15899484|PMID:15914792|PMID:15936313|PMID:15952897|PMID:15998910|PMID:16092059|PMID:16099208|PMID:16115486|PMID:16159606|PMID:16183066|PMID:16199547|PMID:16205024|PMID:16250003|PMID:16257961|PMID:16314194|PMID:16343504|PMID:16389549|PMID:16424354|PMID:16465405|PMID:16466730|PMID:16502360|PMID:1653609|PMID:16542394|PMID:16546193|PMID:16627557|PMID:16630895|PMID:16735037|PMID:16740646|PMID:16792510|PMID:16796766|PMID:16806138|PMID:17044844|PMID:17087781|PMID:17094996|PMID:1714262|PMID:17142622|PMID:17196209|PMID:17335829|PMID:1734722|PMID:17347910|PMID:1734910|PMID:17353666|PMID:17406740|PMID:17408384|PMID:17426749|PMID:17445538|PMID:17539906|PMID:1757095|PMID:17576681|PMID:17673191|PMID:17694954|PMID:17761685|PMID:17765246|PMID:17935672|PMID:17950741|PMID:17955342|PMID:17964958|PMID:18022922|PMID:18096825|PMID:18206115|PMID:18239150|PMID:18243212|PMID:18247305|PMID:18263977|PMID:18279815|PMID:1830890|PMID:18325082|PMID:18339137|PMID:18355452|PMID:18400033|PMID:18503695|PMID:18607183|PMID:18648394|PMID:18677035|PMID:18700895|PMID:18718593|PMID:18757057|PMID:1884514|PMID:18847225|PMID:18929537|PMID:189940|PMID:19001363|PMID:19007590|PMID:19013141|PMID:19020990|PMID:19026292|PMID:19040724|PMID:19060911|PMID:19062533|PMID:19073363|PMID:19081415|PMID:19118540|PMID:19148831|PMID:19208450|PMID:19224862|PMID:19318025|PMID:19319977|PMID:19361455|PMID:19371225|PMID:19411563|PMID:19446849|PMID:19467224|PMID:19487412|PMID:1952806|PMID:19538517|PMID:1959928|PMID:19602640|PMID:1960926|PMID:1960933|PMID:19674976|PMID:19717150|PMID:1978682|PMID:19797716|PMID:19837725|PMID:19843101|PMID:20006333|PMID:20018285|PMID:20019594|PMID:20030366|PMID:200368|PMID:20045108|PMID:20089850|PMID:20091938|PMID:20144596|PMID:20145306
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27854218|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710|PMID:28290784
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35460704|PMID:35474963|PMID:35480308|PMID:35535697|PMID:35560019
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:20217239|PMID:20236128|PMID:2029498|PMID:20428891|PMID:20452591|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20736250|PMID:20809525|PMID:20828696|PMID:2088165|PMID:20962452|PMID:20964105|PMID:20981092|PMID:21115573|PMID:21145767|PMID:21146822|PMID:21157333|PMID:21252755|PMID:21261563|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21377952|PMID:21382890|PMID:21418584|PMID:2143996|PMID:21475731|PMID:21511053|PMID:21520341|PMID:2153120|PMID:21531209|PMID:21538688|PMID:21642693|PMID:21722902|PMID:21829380|PMID:21865347|PMID:21868016|PMID:21872251|PMID:21925044|PMID:21925660|PMID:21935675|PMID:21957200|PMID:21990180|PMID:22081141|PMID:22089669|PMID:22095935|PMID:22177269|PMID:22220933|PMID:22244043|PMID:22293196|PMID:22294733|PMID:22311046|PMID:22353362|PMID:22371747|PMID:22390909|PMID:22417841|PMID:22461740|PMID:22487947|PMID:22509010|PMID:22528129|PMID:22683370|PMID:22698793|PMID:22836070|PMID:22859806|PMID:22881376|PMID:22883975|PMID:22910581|PMID:22923420|PMID:22995991|PMID:22998978|PMID:23021490|PMID:23054246|PMID:23064986|PMID:23130880|PMID:23155708|PMID:23158915|PMID:2318907|PMID:2318961|PMID:23340035|PMID:23345538|PMID:23369702|PMID:233740630|PMID:23375686|PMID:23510778|PMID:2352257|PMID:23537714|PMID:23538283|PMID:23669246|PMID:23675525|PMID:23680767|PMID:23733886|PMID:23769672|PMID:23815734|PMID:23820649|PMID:23833242|PMID:23936638|PMID:23997648|PMID:24014831|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24082139|PMID:24088637|PMID:24103783|PMID:24163242|PMID:24234650|PMID:24281370|PMID:24284361|PMID:24336170|PMID:24338390|PMID:24373485|PMID:24404629|PMID:24420163|PMID:24503134|PMID:24507775|PMID:24529145|PMID:24561735|PMID:24585268|PMID:24627126|PMID:2463228|PMID:24632281|PMID:24671153|PMID:24722143|PMID:24798328|PMID:24916650|PMID:24918045|PMID:24956927|PMID:24988984|PMID:25014035|PMID:25043216|PMID:25057385|PMID:2506353|PMID:25064003|PMID:251034|PMID:25154303|PMID:25187945|PMID:25234566|PMID:25248394|PMID:25257073|PMID:25278291|PMID:25282520|PMID:25333069|PMID:25378237|PMID:25386756|PMID:25412742|PMID:25414273|PMID:25437892|PMID:25461735|PMID:25463123|PMID:2548714|PMID:25487149|PMID:25525159|PMID:25545329|PMID:25606447|PMID:25618577|PMID:25637381|PMID:25647241|PMID:2565980|PMID:2568019|PMID:25682026|PMID:25682442|PMID:2569482|PMID:2572061|PMID:25740221|PMID:25741862|PMID:25741868|PMID:25741870|PMID:25741871|PMID:25741872|PMID:25741873|PMID:25741890|PMID:25756439|PMID:25775905|PMID:25781017|PMID:25807990|PMID:25839937|PMID:25846081|PMID:25887683|PMID:25907359|PMID:25911074|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25936346|PMID:25962062|PMID:25985138|PMID:2600087|PMID:26020417|PMID:26036859|PMID:26046366|PMID:26077743|PMID:26081744|PMID:26220972|PMID:26228681|PMID:26238499|PMID:26283345|PMID:26327206|PMID:26332594|PMID:2633357|PMID:26342331|PMID:26343872|PMID:26345093|PMID:26361156|PMID:26366554|PMID:26371983|PMID:26415676|PMID:26433113|PMID:26467025|PMID:26510755|PMID:26608663|PMID:26632531|PMID:26633542|PMID:26666465|PMID:26688439|PMID:26690388|PMID:26723464|PMID:26748104|PMID:26755827|PMID:2675592|PMID:26795593|PMID:26802169|PMID:268635|PMID:26875521|PMID:26892515|PMID:26894473|PMID:26908947|PMID:26927322|PMID:2698793|PMID:27044878|PMID:27050191|PMID:27135400|PMID:27153395|PMID:27175606|PMID:27185354|PMID:27206935|PMID:27206941|PMID:27206942|PMID:27247956|PMID:2726768|PMID:27294413|PMID:27365335|PMID:27497240|PMID:27542166|PMID:27578104|PMID:27578108|PMID:27578117|PMID:27578127|PMID:27578128|PMID:27596133|PMID:2760205|PMID:27678436|PMID:27680772|PMID:27765764|PMID:27777316|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27821657|PMID:27824480|PMID:27828139|PMID:27830735|PMID:27831900|PMID:27878139|PMID:27884173|PMID:27895090|PMID:27919346|PMID:27919364|PMID:27932355|PMID:27940769|PMID:2799589|PMID:27998977|PMID:28008009|PMID:28008010|PMID:28028493|PMID:28087566|PMID:28104544|PMID:28126585|PMID:28145427|PMID:28159968|PMID:28161202|PMID:28166811|PMID:28169869|PMID:28179607|PMID:28220743|PMID:28235710
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963|PMID:35480308
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:28235710|PMID:28290784|PMID:28334946|PMID:28349240|PMID:28349888|PMID:28353356|PMID:283553356|PMID:28379029|PMID:28391882|PMID:28432645|PMID:28458923|PMID:28475941|PMID:28492532|PMID:28502495|PMID:28502510|PMID:28587771|PMID:28619117|PMID:28645073|PMID:28761763|PMID:28873201|PMID:28895539|PMID:28932795|PMID:28958694|PMID:28964736|PMID:28965616|PMID:28993407|PMID:2901412|PMID:29083407|PMID:29095814|PMID:29172679|PMID:29192238|PMID:2920733|PMID:29213121|PMID:29233637|PMID:29245966|PMID:29261184|PMID:29269200|PMID:29284604|PMID:29290422|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29399563|PMID:29407885|PMID:29502162|PMID:29531935|PMID:29572815|PMID:29576406|PMID:29693183|PMID:29720182|PMID:29724976|PMID:29802317|PMID:29870584|PMID:29874871|PMID:29937437|PMID:29974534|PMID:30016271|PMID:30017729|PMID:30019023|PMID:30108616|PMID:30112042|PMID:30179711|PMID:3020025|PMID:30241732|PMID:3025214|PMID:30270055|PMID:30270076|PMID:30270081|PMID:30270082|PMID:30270083|PMID:30270084|PMID:30270091|PMID:30270359|PMID:30292637|PMID:30293936|PMID:30312929|PMID:30318454|PMID:30333156|PMID:30400955|PMID:30413722|PMID:30415195|PMID:30487145|PMID:30512145|PMID:30526649|PMID:30545713|PMID:30583242|PMID:30586733|PMID:30592178|PMID:30592719|PMID:30617148|PMID:30637778|PMID:30649024|PMID:30710474|PMID:30745730|PMID:30777337|PMID:30778614|PMID:30795984|PMID:30827231|PMID:30876527|PMID:30876530|PMID:30949068|PMID:30971288|PMID:30975109|PMID:31048103|PMID:31102204|PMID:31106297|PMID:31106925|PMID:31153816|PMID:31153847|PMID:31213876|PMID:31241493|PMID:31345425|PMID:31358055|PMID:31387896|PMID:31395865|PMID:31401775|PMID:31447099|PMID:31491741|PMID:31578082|PMID:31589614|PMID:31617323|PMID:31653860|PMID:31686828|PMID:31706281|PMID:31727422|PMID:31746944|PMID:31893465|PMID:31947532|PMID:31980526|PMID:3198114|PMID:31993549|PMID:32015373|PMID:3202825|PMID:3204161|PMID:32041611|PMID:32044282|PMID:32088152|PMID:32104752|PMID:32113782|PMID:32143996|PMID:32154576|PMID:32163632|PMID:32220565|PMID:32231684|PMID:32242544|PMID:32276786|PMID:322919|PMID:322946|PMID:32331935|PMID:32423031|PMID:32443900|PMID:32466883|PMID:32489792|PMID:32505727|PMID:32522009|PMID:32581083|PMID:32629184|PMID:3263645|PMID:32660911|PMID:32675277|PMID:32675963|PMID:32695144|PMID:32706999|PMID:32710294|PMID:32715071|PMID:32719484|PMID:32757650|PMID:32759540|PMID:32770674|PMID:32800790|PMID:32820175|PMID:32829317|PMID:32878475|PMID:32892247|PMID:32897268|PMID:32906206|PMID:32922439|PMID:32977124|PMID:329777124|PMID:32989269|PMID:33020668|PMID:33027386|PMID:33032808|PMID:33069457|PMID:33079599|PMID:33087929|PMID:33093846|PMID:33111339|PMID:33194883|PMID:33211673|PMID:33226606|PMID:33231818|PMID:33258288|PMID:33261662|PMID:33269076|PMID:33303402|PMID:33391333|PMID:33418990|PMID:3343347|PMID:33454241|PMID:33508743|PMID:33519890|PMID:33533259|PMID:33547002|PMID:33569482|PMID:33599434|PMID:33626794|PMID:33668494|PMID:33732287|PMID:33740630|PMID:33746137|PMID:33747976|PMID:33794673|PMID:33807407|PMID:33854068|PMID:33890362|PMID:33892292|PMID:33955087|PMID:33975813|PMID:33992589|PMID:3399440|PMID:33994402|PMID:34011801|PMID:34029164|PMID:34037665|PMID:34040191|PMID:34074024|PMID:34100221|PMID:34167030|PMID:3417658|PMID:34176852|PMID:34182004|PMID:34234266|PMID:34249980|PMID:3425583|PMID:34297352|PMID:3430554|PMID:34314377|PMID:34321884|PMID:34327453|PMID:34363016|PMID:34379075|PMID:34387892|PMID:34407635|PMID:34426522|PMID:34428338|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34497632|PMID:34511120|PMID:34526433|PMID:34570182|PMID:34573395|PMID:34615865|PMID:34697415|PMID:3472763|PMID:3475071|PMID:34756585|PMID:34834584|PMID:34869944|PMID:34871818|PMID:34906454|PMID:34906840|PMID:3494949|PMID:3495735|PMID:34970301|PMID:34998859|PMID:35024061|PMID:35047021|PMID:35052492|PMID:35101175|PMID:35130036|PMID:35137788|PMID:3517112|PMID:35177841|PMID:35222550|PMID:35249492|PMID:35274909|PMID:35319679|PMID:35339733|PMID:35340792|PMID:35379577|PMID:35379578|PMID:35460704|PMID:35474963
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIa | ClinVar Annotator: match by term: Hyperlipoproteinemia type 2	PMID:35480308|PMID:35535697|PMID:35560019|PMID:35568682|PMID:35626767|PMID:35631530|PMID:35741760|PMID:35753512|PMID:35795214|PMID:35882565|PMID:35910211|PMID:35913489|PMID:35928446|PMID:35929461|PMID:35999587|PMID:36011335|PMID:36105085|PMID:36172582|PMID:36184534|PMID:36226792|PMID:36229376|PMID:36229885|PMID:36267056|PMID:36325061|PMID:36329474|PMID:36422519|PMID:36446894|PMID:36499307|PMID:36507290|PMID:36604244|PMID:36648309|PMID:36727130|PMID:36752612|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:36980993|PMID:36991406|PMID:37119068|PMID:37129685|PMID:37370883|PMID:37397863|PMID:37409534|PMID:37417318|PMID:37511194|PMID:37568561|PMID:37589137|PMID:37607748|PMID:37719435|PMID:37805670|PMID:37813054|PMID:37848354|PMID:37937776|PMID:38003014|PMID:3807681|PMID:38122934|PMID:3815525|PMID:3816797|PMID:38203485|PMID:38245461|PMID:38374534|PMID:38523000|PMID:38828125|PMID:39481677|PMID:3955657|PMID:4039004|PMID:4061491|PMID:4061492|PMID:4083361|PMID:4319990|PMID:4750422|PMID:484688|PMID:484703|PMID:484769|PMID:503179|PMID:503269|PMID:503318|PMID:503406|PMID:503411|PMID:503426|PMID:503436|PMID:540742|PMID:540849|PMID:583701|PMID:583768|PMID:6091915|PMID:6299582|PMID:6324732|PMID:6438436|PMID:7489239|PMID:7545204|PMID:7548065|PMID:7550239|PMID:7562961|PMID:7573037|PMID:7583548|PMID:7603991|PMID:7606846|PMID:7616128|PMID:7635461|PMID:7649546|PMID:7649549|PMID:7682459|PMID:7709162|PMID:7718019|PMID:7718024|PMID:7749829|PMID:7773731|PMID:7789953|PMID:7820934|PMID:7833932|PMID:7894220|PMID:7903269|PMID:7903864|PMID:7937987|PMID:7947594|PMID:7979249|PMID:7981713|PMID:8054972|PMID:8093663|PMID:8096412|PMID:8098448|PMID:8141835|PMID:8168830|PMID:8292093|PMID:8295321|PMID:8325082|PMID:8347689|PMID:8399083|PMID:8462973|PMID:8478013|PMID:8535447|PMID:8568489|PMID:8599353|PMID:8644729|PMID:8645371|PMID:8645375|PMID:8664907|PMID:8664911|PMID:8683740|PMID:8697568|PMID:8784348|PMID:8828981|PMID:8828982|PMID:8829662|PMID:8850176|PMID:8872473|PMID:8882879|PMID:8911609|PMID:9003505|PMID:9007329|PMID:9016531|PMID:9026534|PMID:9039985|PMID:9048913|PMID:9090532|PMID:9104431|PMID:9137885|PMID:9143924|PMID:9147888|PMID:9157944|PMID:9180246|PMID:9184256|PMID:9195230|PMID:9212177|PMID:9222758|PMID:9225977|PMID:9237502|PMID:9237510|PMID:9254862|PMID:9259195|PMID:9262405|PMID:9272705|PMID:9399845|PMID:9409298|PMID:9412789|PMID:9452078|PMID:9452094|PMID:9452095|PMID:9452118|PMID:9484998|PMID:9500809|PMID:9536098|PMID:9538514|PMID:9544726|PMID:9544745|PMID:9544746|PMID:9544850|PMID:9547893|PMID:9654205|PMID:9660059|PMID:9664576|PMID:9676383|PMID:9678702|PMID:9698020|PMID:9712531|PMID:9727745|PMID:9727746|PMID:9733232|PMID:9763532|PMID:9767373|PMID:9852677|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10634824|PMID:10657581|PMID:10978268|PMID:11005141|PMID:11040093|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11810272|PMID:11851376|PMID:11933210|PMID:12124988|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15100232|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15321837|PMID:15494314|PMID:15556094|PMID:15823276|PMID:15890894|PMID:15952897|PMID:16159606|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16542394|PMID:16627557|PMID:16630895|PMID:17044844|PMID:17094996|PMID:17150201|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17673191|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18325082|PMID:18700895|PMID:18718593|PMID:18757057|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20045108|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21511053|PMID:21642693|PMID:21868016|PMID:22294733|PMID:22390909|PMID:22461740|PMID:22698793|PMID:22859806|PMID:22883975|PMID:23064986|PMID:23375686|PMID:23669246|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24956927|PMID:25282520|PMID:25378237|PMID:25461735|PMID:25487149|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26343872|PMID:26467025|PMID:26748104|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27824480|PMID:27932355|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28166811|PMID:28169869|PMID:28349240|PMID:28379029|PMID:28492532|PMID:28645073|PMID:28965616|PMID:29261184|PMID:29269200|PMID:29306853|PMID:29396260|PMID:29531935|PMID:29572815|PMID:30270055|PMID:30293936|PMID:30312929|PMID:30413722|PMID:30586733|PMID:30592178|PMID:30617148|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:32015373|PMID:32041611|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32522009|PMID:32675963|PMID:32719484|PMID:32770674|PMID:32977124|PMID:32989269|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34756585|PMID:34834584|PMID:34906454|PMID:34961661|PMID:35222550|PMID:35339733|PMID:35460704|PMID:35568682|PMID:35913489|PMID:35929461|PMID:36105085|PMID:36229376|PMID:36499307|PMID:36769678|PMID:36901902|PMID:37370883|PMID:38122934|PMID:39531635|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7979249|PMID:8882879|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9727746
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10208479|PMID:10230472|PMID:10634824|PMID:10657581|PMID:10978268|PMID:11005141|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11810272|PMID:12124988|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15321837|PMID:15494314|PMID:15556094|PMID:15823276|PMID:15823288|PMID:15890894|PMID:15952897|PMID:16159606|PMID:16205024|PMID:16250003|PMID:16389549|PMID:16542394|PMID:16627557|PMID:16630895|PMID:17044844|PMID:17094996|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17673191|PMID:17765246|PMID:17955342|PMID:18096825|PMID:18325082|PMID:18700895|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20045108|PMID:20236128|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21511053|PMID:21868016|PMID:22390909|PMID:22698793|PMID:22859806|PMID:22883975|PMID:23064986|PMID:23375686|PMID:23669246|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24956927|PMID:25014035|PMID:25282520|PMID:25378237|PMID:25461735|PMID:25487149|PMID:25545329|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25936317|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26343872|PMID:26467025|PMID:26748104|PMID:26875521|PMID:26892515|PMID:26927322|PMID:27044878|PMID:27050191|PMID:27680772|PMID:27765764|PMID:27783906|PMID:27784735|PMID:27816806|PMID:27932355|PMID:28008010|PMID:28104544|PMID:28145427|PMID:28166811|PMID:28169869|PMID:28349240|PMID:28379029|PMID:28492532|PMID:28502495|PMID:28645073|PMID:28965616|PMID:29172679|PMID:29269200|PMID:29292049|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29531935|PMID:29572815|PMID:29937437|PMID:30293936|PMID:30312929|PMID:30413722|PMID:30526649|PMID:30592178|PMID:30617148|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31238984|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:32015373|PMID:32041611|PMID:32143996|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32759540|PMID:32977124|PMID:32989269|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33626794|PMID:33740630|PMID:33807407|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34074024|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34756585|PMID:34834584|PMID:34906454|PMID:34961661|PMID:35222550|PMID:35249492|PMID:35339733|PMID:35460704|PMID:35568682|PMID:35626767|PMID:35913489|PMID:35929461|PMID:36229376|PMID:36499307|PMID:36769678|PMID:36901902|PMID:37370883|PMID:38122934|PMID:39531635|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7979249|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9664576|PMID:9678702|PMID:9763532
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPER-LOW-DENSITY-LIPOPROTEINEMIA | ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II	PMID:10422804|PMID:10634824|PMID:10657581|PMID:10704205|PMID:10735632|PMID:10882754|PMID:10978268|PMID:11005141|PMID:11052664|PMID:11196104|PMID:11317362|PMID:11373616|PMID:11462246|PMID:11585102|PMID:11641914|PMID:11668627|PMID:11668640|PMID:11737238|PMID:11810272|PMID:11845603|PMID:12124988|PMID:12436241|PMID:12459547|PMID:12730724|PMID:1301956|PMID:14508510|PMID:14974088|PMID:15015036|PMID:15172466|PMID:15199436|PMID:15241806|PMID:15256764|PMID:15321837|PMID:15359125|PMID:15494314|PMID:15556094|PMID:15823276|PMID:15823288|PMID:15890894|PMID:15952897|PMID:16159606|PMID:16250003|PMID:16389549|PMID:16542394|PMID:16627557|PMID:17044844|PMID:17094996|PMID:17196209|PMID:17347910|PMID:17426749|PMID:17539906|PMID:17673191|PMID:17765246|PMID:18096825|PMID:18325082|PMID:18700895|PMID:18718593|PMID:18929537|PMID:19007590|PMID:19118540|PMID:19318025|PMID:19446849|PMID:19602640|PMID:19717150|PMID:19843101|PMID:20018285|PMID:20045108|PMID:20145306|PMID:20236128|PMID:20506408|PMID:20538126|PMID:20663204|PMID:20809525|PMID:21145767|PMID:21276076|PMID:21310417|PMID:21376320|PMID:21382890|PMID:21511053|PMID:21642693|PMID:21868016|PMID:21990180|PMID:22081141|PMID:22390909|PMID:22698793|PMID:22883975|PMID:23064986|PMID:23375686|PMID:23680767|PMID:24033266|PMID:24055113|PMID:24075752|PMID:24284361|PMID:24338390|PMID:24373485|PMID:24507775|PMID:24529145|PMID:24585268|PMID:24956927|PMID:25282520|PMID:25378237|PMID:25437892|PMID:25461735|PMID:25463123|PMID:25487149|PMID:25606447|PMID:25637381|PMID:25647241|PMID:2572061|PMID:25741868|PMID:25911080|PMID:25921077|PMID:25962062|PMID:26020417|PMID:26046366|PMID:26332594|PMID:26342331|PMID:26343872|PMID:26467025|PMID:26633542|PMID:26802169|PMID:26892515|PMID:26927322|PMID:27017151|PMID:27044878|PMID:27050191|PMID:27497240|PMID:27578127|PMID:27680772|PMID:27765764|PMID:27784735|PMID:27816806|PMID:27932355|PMID:28008010|PMID:28028493|PMID:28104544|PMID:28145427|PMID:28161202|PMID:28166811|PMID:28220743|PMID:28235710|PMID:28353356|PMID:28492532|PMID:28502510|PMID:28645073|PMID:28895539|PMID:28958694|PMID:28965616|PMID:29233637|PMID:29261184|PMID:29269200|PMID:29290422|PMID:29306853|PMID:29353225|PMID:29396260|PMID:29531935|PMID:29572815|PMID:29720182|PMID:29874871|PMID:29974534|PMID:30241732|PMID:30270055|PMID:30293248|PMID:30293936|PMID:30312929|PMID:30413722|PMID:30586733|PMID:30592178|PMID:30617148|PMID:30637778|PMID:30710474|PMID:30778614|PMID:31153816|PMID:31327807|PMID:31345425|PMID:31447099|PMID:31491741|PMID:31893465|PMID:31947532|PMID:32015373|PMID:32041611|PMID:32331935|PMID:32423031|PMID:32466883|PMID:32719484|PMID:32759540|PMID:32906206|PMID:32977124|PMID:32989269|PMID:33087929|PMID:33303402|PMID:33418990|PMID:33454241|PMID:33508743|PMID:33533259|PMID:33740630|PMID:33955087|PMID:33994402|PMID:34037665|PMID:34040191|PMID:34167030|PMID:34297352|PMID:34407635|PMID:34456049|PMID:34456200|PMID:34496902|PMID:34521694|PMID:34756585|PMID:34834584|PMID:34906454|PMID:34961661|PMID:35047021|PMID:35222550|PMID:35339733|PMID:35460704|PMID:35480308|PMID:35568682|PMID:35753512|PMID:35795214|PMID:35910211|PMID:35913489|PMID:35929461|PMID:36105085|PMID:36229376|PMID:36325061|PMID:36446894|PMID:36499307|PMID:36769678|PMID:36901902|PMID:36960729|PMID:36973604|PMID:37409534|PMID:37482509|PMID:37496633|PMID:37589137|PMID:37739193|PMID:37813054|PMID:37848354|PMID:37967952|PMID:38122934|PMID:38374534|PMID:38523000|PMID:39531635|PMID:39731075|PMID:41166440|PMID:7548065|PMID:7603991|PMID:7606846|PMID:7649546|PMID:7979249|PMID:8295321|PMID:9026534|PMID:9104431|PMID:9259195|PMID:9409298|PMID:9452095|PMID:9544745|PMID:9544746|PMID:9664576|PMID:9712531|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10338098|PMID:10668928|PMID:10978268|PMID:11317361|PMID:11810272|PMID:12436241|PMID:1301956|PMID:14974088|PMID:15199436|PMID:15241806|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:19717150|PMID:19837725|PMID:2088165|PMID:21865347|PMID:22294733|PMID:22371747|PMID:23375686|PMID:24529145|PMID:25463123|PMID:25487149|PMID:25647241|PMID:25741868|PMID:25741873|PMID:26467025|PMID:27578104|PMID:27765764|PMID:28353356|PMID:28470529|PMID:28492532|PMID:28964736|PMID:28965616|PMID:29874871|PMID:30293936|PMID:30710474|PMID:31106925|PMID:31345425|PMID:31947532|PMID:32041611|PMID:32660911|PMID:32770674|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:35194765|PMID:35795214|PMID:36960729|PMID:7635461|PMID:8683740|PMID:9259195|PMID:9536098|PMID:9544850|PMID:9974426
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2998	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:18054320|REF_RGD_ID:2324626
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9005734	Abdominal Pain		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abdominal pain	PMID:10668928|PMID:16250003|PMID:17539906|PMID:17576681|PMID:17964958|PMID:19208450|PMID:19446849|PMID:22294733|PMID:23375686|PMID:25463123|PMID:25741868|PMID:26467025|PMID:27578104|PMID:28353356|PMID:28492532|PMID:28964736|PMID:30293936|PMID:30710474|PMID:31345425|PMID:31947532|PMID:32660911|PMID:32977124|PMID:33418990|PMID:33740630|PMID:34037665|PMID:36960729|PMID:7635461|PMID:9536098
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:25741868|PMID:28492532|PMID:36229376
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:10864	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735594	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:36108984
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:735594	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:leukocyte	PMID:19811272|REF_RGD_ID:5490253
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9256	colorectal cancer		ISO	RGD:735594	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:20145306|PMID:22881376|PMID:25741868|PMID:28492532|PMID:30293936|PMID:32719484|PMID:37568561|PMID:39769230
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:10864	D	RGD:9068941	20220825	MouseDO		OMIM:228100	
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:2998	D	RGD:9068941	20211112	RGD			PMID:29459263|REF_RGD_ID:13703129
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9452	steatotic liver disease		ISO	RGD:735594	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554529|PMID:36108984
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9563	bronchiectasis		ISO	RGD:735594	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bronchiectasis	PMID:20145306|PMID:22881376|PMID:25741868|PMID:25741890|PMID:31589614|PMID:32041611|PMID:32522009|PMID:33087929|PMID:33418990|PMID:33740630|PMID:34697415|PMID:34906840|PMID:35910211|PMID:36499307|PMID:41166440
12155481	LDLR	low density lipoprotein receptor	gene	DOID:9970	obesity		ISO	RGD:735594	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25554529
12155481	Ldlr	low density lipoprotein receptor	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:2998	D	RGD:9068941	20260813	RGD		mRNA:increased expression:liver	PMID:26694996|REF_RGD_ID:736803851
12155503	FREY1	Frey regulator of sperm-oocyte fusion 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3543119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155503	FREY1	Frey regulator of sperm-oocyte fusion 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3543119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155517	MIR205	microRNA mir-205	gene	DOID:1324	lung cancer		ISO	RGD:1607684	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12155517	MIR205	microRNA mir-205	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21563230
12155517	MIR205	microRNA mir-205	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25586904
12155517	MIR205	microRNA mir-205	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21563230
12155517	MIR205	microRNA mir-205	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24447120
12155517	MIR205	microRNA mir-205	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12155517	MIR205	microRNA mir-205	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048643
12155517	MIR205	microRNA mir-205	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20099276
12155517	MIR205	microRNA mir-205	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350430	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12155537	INF2	inverted formin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155537	INF2	inverted formin 2	gene	DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E		ISO	RGD:1343033	D	RGD:7240710	20210114	OMIM			
12155537	INF2	inverted formin 2	gene	DOID:0110205	Charcot-Marie-Tooth disease dominant intermediate E		ISO	RGD:1343033	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate E	PMID:16199547|PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26248470|PMID:26467025|PMID:27350175|PMID:27549087|PMID:28492532|PMID:28658201|PMID:28780565|PMID:28844315|PMID:29653220|PMID:29869118|PMID:30076350|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30680856|PMID:31328266|PMID:31937884|PMID:32444357|PMID:32451589|PMID:32604935|PMID:33712733|PMID:34120753|PMID:34255403|PMID:35920919|PMID:36413997|PMID:36637069|PMID:36685964|PMID:37464296|PMID:37491439|PMID:9536098
12155537	INF2	inverted formin 2	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532
12155537	INF2	inverted formin 2	gene	DOID:0111130	focal segmental glomerulosclerosis 5		ISO	RGD:1343033	D	RGD:7240710	20210114	OMIM			
12155537	INF2	inverted formin 2	gene	DOID:0111130	focal segmental glomerulosclerosis 5		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | ClinVar Annotator: match by term: Focal segmental glomerulosclerosis 5 | ClinVar Annotator: match by term: INF2-related condition	PMID:17576681|PMID:20023659|PMID:20803156|PMID:21258034|PMID:21415313|PMID:21866090|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25741869|PMID:26086034|PMID:26467025|PMID:26467726|PMID:26764407|PMID:26951353|PMID:27350175|PMID:27549087|PMID:28492532|PMID:29653220|PMID:29869118|PMID:30076350|PMID:30126379|PMID:30373780|PMID:30406062|PMID:30773290|PMID:31328266|PMID:31937884|PMID:32359821|PMID:32444357|PMID:32451589|PMID:32604935|PMID:32887937|PMID:33712733|PMID:34255403|PMID:35683636|PMID:35920919|PMID:36413997|PMID:36624082|PMID:36637069|PMID:37464296|PMID:37491439|PMID:37772439|PMID:9536098
12155537	INF2	inverted formin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155537	INF2	inverted formin 2	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:20023659|PMID:20803156|PMID:21258034|PMID:22187985|PMID:22961558|PMID:23014460|PMID:23515051|PMID:23521651|PMID:24174593|PMID:24750328|PMID:25165188|PMID:25407002|PMID:25676889|PMID:25741868|PMID:25943269|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31515790|PMID:31937884|PMID:32444357|PMID:32604935|PMID:36637069|PMID:37491439
12155537	INF2	inverted formin 2	gene	DOID:1074	kidney failure		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935
12155537	INF2	inverted formin 2	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:29127259
12155537	INF2	inverted formin 2	gene	DOID:12215	oligohydramnios		ISO	RGD:1343033	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oligohydramnios	PMID:25741868
12155537	INF2	inverted formin 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:20023659|PMID:20803156|PMID:21258034|PMID:21866090|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:30655312|PMID:31937884|PMID:32444357|PMID:32451589|PMID:32604935
12155537	INF2	inverted formin 2	gene	DOID:1324	lung cancer		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	PMID:23515051|PMID:25741868|PMID:26467025|PMID:28492532
12155537	INF2	inverted formin 2	gene	DOID:1389	polyneuropathy		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor polyneuropathy	PMID:25741868
12155537	INF2	inverted formin 2	gene	DOID:1909	melanoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155537	INF2	inverted formin 2	gene	DOID:2921	glomerulonephritis		ISO	RGD:1343033	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glomerulonephritis	PMID:25741868|PMID:28492532
12155537	INF2	inverted formin 2	gene	DOID:2987	familial Mediterranean fever		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periodic fever syndrome	
12155537	INF2	inverted formin 2	gene	DOID:3070	high grade glioma		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12155537	INF2	inverted formin 2	gene	DOID:3275	thymoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155537	INF2	inverted formin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155537	INF2	inverted formin 2	gene	DOID:557	kidney disease		ISO	RGD:1343033	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:20023659|PMID:21258034|PMID:21866090|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30126379|PMID:30406062
12155537	INF2	inverted formin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155537	INF2	inverted formin 2	gene	DOID:576	proteinuria		ISO	RGD:1343033	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:20023659|PMID:20803156|PMID:21258034|PMID:23014460|PMID:23515051|PMID:25165188|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27350175|PMID:28492532|PMID:31937884|PMID:32604935
12155537	INF2	inverted formin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155537	INF2	inverted formin 2	gene	DOID:630	genetic disease		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22187985|PMID:22961558|PMID:24750328|PMID:25407002|PMID:25741868|PMID:26467025|PMID:27549087|PMID:28492532|PMID:30126379|PMID:32444357|PMID:36413997|PMID:36637069
12155537	INF2	inverted formin 2	gene	DOID:784	chronic kidney disease		ISO	RGD:1343033	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
12155537	INF2	inverted formin 2	gene	DOID:9003507	Premature Birth		ISO	RGD:1343033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12155537	INF2	inverted formin 2	gene	DOID:9005563	Glomerulopathy with Giant Fibrillar Deposits		ISO	RGD:1343033	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Glomerulopathy with fibronectin deposits 2	PMID:25741868
12155537	INF2	inverted formin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155537	INF2	inverted formin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868
12155537	INF2	inverted formin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343033	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155577	CISD2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:7240710	20180130	OMIM			
12155577	CISD2	CDGSH iron sulfur domain 2	gene	DOID:0110630	Wolfram syndrome 2		ISO	RGD:1603794	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CISD2-related condition | ClinVar Annotator: match by term: WOLFRAM SYNDROME 2 | ClinVar Annotator: match by term: Wolfram syndrome 2	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12155577	CISD2	CDGSH iron sulfur domain 2	gene	DOID:630	genetic disease		ISO	RGD:1603794	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12155577	CISD2	CDGSH iron sulfur domain 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603794	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12155613	KIAA0040	KIAA0040	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2290033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155613	KIAA0040	KIAA0040	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2290033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:10534	stomach cancer		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:10604	lactose intolerance		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactose intolerance	PMID:25741868
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:1115	sarcoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:1324	lung cancer		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:3070	high grade glioma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:3275	thymoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:4362	cervical cancer		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352854	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9006147	Lactose Intolerance, Adult Type		ISO	RGD:1352854	D	RGD:7240710	20180130	OMIM			
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9006147	Lactose Intolerance, Adult Type		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MCM6-related condition	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155626	MCM6	minichromosome maintenance complex component 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352854	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0060046	aphasia		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Aphasia	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:1604541	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fetal akinesia sequence	PMID:25741868|PMID:28492532|PMID:31680123
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:7240710	20180130	OMIM			
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111493	combined oxidative phosphorylation deficiency 12		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 12 | ClinVar Annotator: match by term: EARS2-related condition | ClinVar Annotator: match by term: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	PMID:22492562|PMID:23427196|PMID:24706556|PMID:25476837|PMID:25741868|PMID:26741492|PMID:26780086|PMID:27117034|PMID:27290639|PMID:28492532|PMID:28748214|PMID:28973083|PMID:30831263|PMID:31520968|PMID:31665838|PMID:31980526|PMID:32887222|PMID:33128823|PMID:33258288|PMID:33962821|PMID:33972171|PMID:34018027|PMID:34440436|PMID:37377599|PMID:37597066|PMID:38129218|PMID:38465286|PMID:39173847
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1604541	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:22492562|PMID:23427196|PMID:25741868|PMID:28492532|PMID:28973083|PMID:32887222|PMID:33128823|PMID:33962821|PMID:33972171
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:11830	myopia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:1596	depressive disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:2468	psychotic disorder		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1604541	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: mitochondrial disease	PMID:25741868|PMID:28492532|PMID:28748214|PMID:28748215|PMID:31680123
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9001733	Tinnitus		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003126	Hallucinations		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003539	Hyperacusis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004062	Hyperhidrosis		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperhidrosis	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005077	Joint Instability		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12155657	EARS2	glutamyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008023	Memory Disorders		ISO	RGD:1604541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:22492562|PMID:27290639|PMID:28492532|PMID:33962821
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:733226	D	RGD:9068941	20200806	RGD		DNA:silent mutation:cds: 267C>T (human)	PMID:10624811|REF_RGD_ID:1358662
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:5419	schizophrenia		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12165372
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733226	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:670	amphetamine abuse		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705401
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:8646	substance-induced psychosis		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20705401
12155674	HTR6	5-hydroxytryptamine receptor 6	gene	DOID:9008023	Memory Disorders		ISO	RGD:733226	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19733250
12155680	PAQR3	progestin and adipoQ receptor family member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155680	PAQR3	progestin and adipoQ receptor family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321322	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155691	AQP8	aquaporin 8	gene	DOID:10534	stomach cancer		ISO	RGD:737411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155691	AQP8	aquaporin 8	gene	DOID:2316	brain ischemia		ISO	RGD:2146	D	RGD:9068941	20200609	RGD			PMID:19616516|REF_RGD_ID:5490152
12155691	AQP8	aquaporin 8	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:10534	stomach cancer		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:1115	sarcoma		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:4362	cervical cancer		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155707	CLEC2D	C-type lectin domain family 2 member D	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1615204	D	RGD:9068941	20220825	MouseDO			
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:1324	lung cancer		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:4362	cervical cancer		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155717	COX7A1	cytochrome c oxidase subunit 7A1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348243	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155731	MIR193A	microRNA mir-193a	gene	DOID:10591	pre-eclampsia		ISO	RGD:1350382	D	RGD:9068941	20230128	RGD		miRNA:increased expression:blood serum (human)	PMID:25017274|REF_RGD_ID:155882496
12155731	MIR193A	microRNA mir-193a	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1350382	D	RGD:9068941	20221013	RGD		miRNA:decreased expression:blood plasma (human)	PMID:23051042|REF_RGD_ID:155582214
12155731	MIR193A	microRNA mir-193a	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1608303	D	RGD:9068941	20240425	MouseDO			
12155731	MIR193A	microRNA mir-193a	gene	DOID:1324	lung cancer		ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		DNA:hypermethylation	PMID:27669434|REF_RGD_ID:153344606
12155731	MIR193A	microRNA mir-193a	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:27821145|PMID:29183007|REF_RGD_ID:153344578|REF_RGD_ID:153344580
12155731	MIR193A	microRNA mir-193a	gene	DOID:1324	lung cancer	treatment	ISO	RGD:1608303	D	RGD:9068941	20220901	RGD			PMID:35289739|REF_RGD_ID:153344587
12155731	MIR193A	microRNA mir-193a	gene	DOID:219	colon cancer	ameliorates	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		human cells in mouse model	PMID:28211508|REF_RGD_ID:153344546
12155731	MIR193A	microRNA mir-193a	gene	DOID:219	colon cancer	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:30575330|REF_RGD_ID:153344588
12155731	MIR193A	microRNA mir-193a	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220818	RGD		miRNA:decreased expression:esophagus (human)	PMID:27203740|REF_RGD_ID:153323341
12155731	MIR193A	microRNA mir-193a	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1350382	D	RGD:9068941	20210212	CTD		CTD Direct Evidence: therapeutic	PMID:30744607
12155731	MIR193A	microRNA mir-193a	gene	DOID:3907	lung squamous cell carcinoma	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		DNA:Hypermethylation	PMID:22282464|REF_RGD_ID:153344598
12155731	MIR193A	microRNA mir-193a	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		miRNA:decreased expression:lung (human)	PMID:26655272|REF_RGD_ID:11085320
12155731	MIR193A	microRNA mir-193a	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		human cells in mouse model	PMID:31205511|REF_RGD_ID:153344584
12155731	MIR193A	microRNA mir-193a	gene	DOID:5082	liver cirrhosis		ISO	RGD:1350382	D	RGD:9068941	20220826	RGD		associated with hepatocellular carcinoma; RNA:decreased expression:liver (human)	PMID:24330766|REF_RGD_ID:153344567
12155731	MIR193A	microRNA mir-193a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		DNA:hypomethylation	PMID:28036298|REF_RGD_ID:153344564
12155731	MIR193A	microRNA mir-193a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		RNA:decreased expression:liver (human)	PMID:30710422|REF_RGD_ID:153344549
12155731	MIR193A	microRNA mir-193a	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		miRNA:decreased expression:liver (human)	PMID:26263159|REF_RGD_ID:11070076
12155731	MIR193A	microRNA mir-193a	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		RNA:increased expression:blood serum (human)	PMID:32960907|REF_RGD_ID:153344563
12155731	MIR193A	microRNA mir-193a	gene	DOID:687	hepatoblastoma	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		RNA:decreased expression:liver (human)	PMID:31541079|REF_RGD_ID:153344539
12155731	MIR193A	microRNA mir-193a	gene	DOID:7474	malignant pleural mesothelioma		ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		miRNA:decreased expression:pleura (human)	PMID:26125439|REF_RGD_ID:11529530
12155731	MIR193A	microRNA mir-193a	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		associated with colorectal cancer; miRNA:decreased expression:colorectum (human)	PMID:25232258|REF_RGD_ID:153344566
12155731	MIR193A	microRNA mir-193a	gene	DOID:9000965	Neoplasm Metastasis	exacerbates	ISO	RGD:1350382	D	RGD:9068941	20220901	RGD		associated with lung non-small cell carcinoma; human cells in mouse model	PMID:24469061|PMID:30685413|REF_RGD_ID:153344592|REF_RGD_ID:153344599
12155731	MIR193A	microRNA mir-193a	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1608303	D	RGD:9068941	20220818	RGD		miRNA:decreased expression:liver (mouse)	PMID:30165047|REF_RGD_ID:153323340
12155731	MIR193A	microRNA mir-193a	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1350382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12155731	MIR193A	microRNA mir-193a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1350382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12155731	MIR193A	microRNA mir-193a	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1350382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12155731	MIR193A	microRNA mir-193a	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1350382	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12155731	MIR193A	microRNA mir-193a	gene	DOID:9256	colorectal cancer		ISO	RGD:1350382	D	RGD:9068941	20220721	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12155731	MIR193A	microRNA mir-193a	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		RNA:increased expression:colorectum, blood (human)	PMID:23758639|REF_RGD_ID:153344558
12155731	MIR193A	microRNA mir-193a	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1350382	D	RGD:9068941	20220825	RGD		human cells in mouse model	PMID:34299137|REF_RGD_ID:153344551
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:10763	hypertension		ISO	RGD:69262	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:6726227|REF_RGD_ID:2301363
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:1115	sarcoma		ISO	RGD:737394	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:1324	lung cancer		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:1909	melanoma		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:4362	cervical cancer		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:8692	myeloid leukemia		ISO	RGD:737394	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:40369079
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:737394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:737394	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737394	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23665415
12155751	CDO1	cysteine dioxygenase type 1	gene	DOID:9970	obesity		ISO	RGD:737395	D	RGD:9068941	20200609	RGD			PMID:16627576|REF_RGD_ID:2301355
12155778	RFX2	regulatory factor X2	gene	DOID:10534	stomach cancer		ISO	RGD:1343231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155778	RFX2	regulatory factor X2	gene	DOID:1115	sarcoma		ISO	RGD:1343231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155778	RFX2	regulatory factor X2	gene	DOID:4362	cervical cancer		ISO	RGD:1343231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155778	RFX2	regulatory factor X2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343231	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155778	RFX2	regulatory factor X2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155778	RFX2	regulatory factor X2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:0070759	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6		ISO	RGD:737409	D	RGD:7240710	20231220	OMIM			
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:0070759	autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 6		ISO	RGD:737409	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 | ClinVar Annotator: match by term: RRM1-related disorder	PMID:25741868|PMID:35617047
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:0080074	neural tube defect		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10716750
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:10534	stomach cancer		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:1115	sarcoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:1909	melanoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3070	high grade glioma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3275	thymoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21496433
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:737409	D	RGD:9068941	20210604	RGD			PMID:19002265|REF_RGD_ID:127229933
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:3948	adrenocortical carcinoma		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22547773
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:4362	cervical cancer		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:5041	esophageal cancer		ISO	RGD:737409	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9000918	Disease Progression		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21496433
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1592569	D	RGD:9068941	20200609	RGD			PMID:15224347|REF_RGD_ID:2316863
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:1592569	D	RGD:9068941	20241214	RGD		protein:increased expression:dentate gyrus (rat)	PMID:15725396|REF_RGD_ID:5133692
12155807	RRM1	ribonucleotide reductase catalytic subunit M1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155830	TMOD2	tropomodulin 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155830	TMOD2	tropomodulin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155830	TMOD2	tropomodulin 2	gene	DOID:1909	melanoma		ISO	RGD:1351754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155830	TMOD2	tropomodulin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351754	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:0050742	nicotine dependence		ISO	RGD:1312254	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:29216386
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:0050866	oral squamous cell carcinoma	severity	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:29945346|REF_RGD_ID:150429700
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type		ISO	RGD:1312254	D	RGD:7240710	20180130	OMIM			
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:0112196	spondylometaepiphyseal dysplasia, short limb-hand type		ISO	RGD:1312254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DDR2-related condition | ClinVar Annotator: match by term: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia short limb-hand type | ClinVar Annotator: match by term: Spondylometaepiphyseal dysplasia, short limb-hand type	PMID:19110212|PMID:20223752|PMID:25741868|PMID:28492532|PMID:29904280|PMID:32381727|PMID:36720430
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer	ameliorates	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:26934957|REF_RGD_ID:150429705
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:26934957|REF_RGD_ID:150429705
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:27010547|REF_RGD_ID:150429704
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:27010547|REF_RGD_ID:150429704
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:14018	alcoholic liver cirrhosis	ameliorates	ISO	RGD:619855	D	RGD:9068941	20211015	RGD			PMID:23409069|REF_RGD_ID:150517731
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:14018	alcoholic liver cirrhosis	disease_progression	ISO	RGD:619855	D	RGD:9068941	20211001	RGD			PMID:21199726|REF_RGD_ID:150429766
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:14330	Parkinson's disease	treatment	ISO	RGD:1312255	D	RGD:9068941	20220121	RGD			PMID:28863860|REF_RGD_ID:150519888
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:1909	melanoma	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20210924	RGD		DNA:deletion:exons:	PMID:24293323|REF_RGD_ID:150429711
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3355	fibrosarcoma	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20210924	RGD		DNA:deletion:exons:	PMID:24293323|REF_RGD_ID:150429711
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3500	gallbladder adenocarcinoma	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD			PMID:29043607|REF_RGD_ID:150429712
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312254	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	PMID:22328973|PMID:25741868|PMID:26206333|PMID:28492532
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous Cell Lung Carcinoma	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3907	lung squamous cell carcinoma	severity	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:24885564|REF_RGD_ID:150429702
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:11639421	D	RGD:9068941	20250116	ClinVar		ClinVar Annotator: match by term: Non-small cell lung carcinoma	PMID:22328973|PMID:28492532
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1312254	D	RGD:9068941	20250116	RGD		mRNA:decreased expression:lung	PMID:17299390|REF_RGD_ID:150429714
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1312254	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:5520	head and neck squamous cell carcinoma	severity	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD			PMID:24556606|REF_RGD_ID:150429746
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:5627	adenosquamous gallbladder carcinoma	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD			PMID:29043607|REF_RGD_ID:150429712
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:630	genetic disease		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:65	connective tissue disease		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Connective tissue disease | ClinVar Annotator: match by term: Connective tissue disorder	PMID:25741868|PMID:28492532
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD			PMID:26362312|REF_RGD_ID:11086753
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD			PMID:33969575|REF_RGD_ID:150429748
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:686	liver carcinoma	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20210924	RGD		DNA:deletion:exons:	PMID:24293323|REF_RGD_ID:150429711
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:8398	osteoarthritis	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20211008	RGD			PMID:24938620|REF_RGD_ID:150429973
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD		associated with oral squamous cell carcinoma	PMID:29945346|REF_RGD_ID:150429700
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9000662	Warburg-Cinotti Syndrome		ISO	RGD:1312254	D	RGD:7240710	20200226	OMIM			
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9000662	Warburg-Cinotti Syndrome		ISO	RGD:1312254	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: WARBURG-CINOTTI SYNDROME | ClinVar Annotator: match by term: Warburg-Cinotti syndrome | ClinVar Annotator: match by term: Warburg-cinotti syndrome | ClinVar Annotator: match by term: warburg-cinotti syndrome	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30449416|PMID:35221872|PMID:9536098
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20210924	RGD		associated with melanoma;	PMID:24293323|REF_RGD_ID:150429711
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9002331	Knee Osteoarthritis	ameliorates	ISO	RGD:619855	D	RGD:9068941	20211015	RGD			PMID:31258642|REF_RGD_ID:150519887
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9002457	Experimental Arthritis	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20211015	RGD			PMID:24819400|REF_RGD_ID:150519886
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9004332	Osteoarthritis, Experimental	treatment	ISO	RGD:619855	D	RGD:9068941	20211008	RGD			PMID:25975052|REF_RGD_ID:150429975
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD		associated with melanoma;	PMID:21701781|REF_RGD_ID:150429713
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9006618	Liver Metastasis	ameliorates	ISO	RGD:1312255	D	RGD:9068941	20210917	RGD		associated with colon carcinoma	PMID:22071959|REF_RGD_ID:150429701
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312254	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9009121	lung metastasis	exacerbates	ISO	RGD:1312254	D	RGD:9068941	20210924	RGD		associated with tongue squamous cell carcinoma;	PMID:24556606|REF_RGD_ID:150429746
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1312254	D	RGD:9068941	20210917	RGD			PMID:28476831|REF_RGD_ID:150429706
12155844	DDR2	discoidin domain receptor tyrosine kinase 2	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:1312254	D	RGD:9068941	20210924	RGD		mRNA:increased expression:epithelium of nasopharynx	PMID:18023033|REF_RGD_ID:150429715
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:3275	thymoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155879	C9H9orf78	chromosome 9 C9orf78 homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313051	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155892	FMR1NB	FMR1 neighbor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155892	FMR1NB	FMR1 neighbor	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155892	FMR1NB	FMR1 neighbor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155902	CUL7	cullin 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155902	CUL7	cullin 7	gene	DOID:0050651	atrioventricular septal defect		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect	PMID:25741868|PMID:28492532
12155902	CUL7	cullin 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155902	CUL7	cullin 7	gene	DOID:0060058	lymphoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12155902	CUL7	cullin 7	gene	DOID:0060241	3-M syndrome		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: 3-M syndrome | ClinVar Annotator: match by term: 3M syndrome | ClinVar Annotator: match by term: Three-M slender-boned nanism | ClinVar Annotator: match by term: YAKUT SHORT STATURE SYNDROME	PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:21396581|PMID:21548126|PMID:22974575|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:31589614|PMID:38087044
12155902	CUL7	cullin 7	gene	DOID:10534	stomach cancer		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155902	CUL7	cullin 7	gene	DOID:1115	sarcoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155902	CUL7	cullin 7	gene	DOID:12849	autistic disorder		ISO	RGD:1314380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25961944
12155902	CUL7	cullin 7	gene	DOID:1324	lung cancer		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155902	CUL7	cullin 7	gene	DOID:2394	ovarian cancer		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12155902	CUL7	cullin 7	gene	DOID:4362	cervical cancer		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12155902	CUL7	cullin 7	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1314380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138691
12155902	CUL7	cullin 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1314380	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12155902	CUL7	cullin 7	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12155902	CUL7	cullin 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155902	CUL7	cullin 7	gene	DOID:630	genetic disease		ISO	RGD:1314380	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16142236|PMID:19225462|PMID:21396581|PMID:25741868|PMID:28492532|PMID:38087044
12155902	CUL7	cullin 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12155902	CUL7	cullin 7	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314380	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:16142236|PMID:16199547|PMID:17675530|PMID:19225462|PMID:25741868|PMID:28492532|PMID:38702915
12155902	CUL7	cullin 7	gene	DOID:9005349	Three M Syndrome 1		ISO	RGD:1314380	D	RGD:7240710	20190327	OMIM			
12155902	CUL7	cullin 7	gene	DOID:9005349	Three M Syndrome 1		ISO	RGD:1314380	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3M syndrome 1 | ClinVar Annotator: match by term: CUL7-related condition | ClinVar Annotator: match by term: THREE M SYNDROME 1 | ClinVar Annotator: match by term: Three M syndrome 1	PMID:16142236|PMID:17675530|PMID:19225462|PMID:21396581|PMID:22325252|PMID:23018678|PMID:23900270|PMID:24793695|PMID:24793696|PMID:25741868|PMID:28492532|PMID:28969986|PMID:30564305|PMID:30980518|PMID:31343991|PMID:31589614|PMID:34006472|PMID:38087044
12155902	CUL7	cullin 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314380	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155902	CUL7	cullin 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12155902	CUL7	cullin 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155902	CUL7	cullin 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1314380	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:733817	D	RGD:9068941	20220825	MouseDO			
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:34935411
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33874732|PMID:33996946|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:34802252|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:16199547|PMID:17254821|PMID:17576681|PMID:20801532|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28166811|PMID:28492532|PMID:29511324|PMID:31983221|PMID:32746448|PMID:33996946|PMID:34802252|PMID:34935411|PMID:9536098
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:1909	melanoma		ISO	RGD:1351346	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:397	restrictive cardiomyopathy		ISO	RGD:1351346	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Restrictive cardiomyopathy	PMID:25741868
12155934	PDLIM3	PDZ and LIM domain 3	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1351346	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:24033266|PMID:25741868|PMID:28492532
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:10534	stomach cancer		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:1324	lung cancer		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:1909	melanoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:3275	thymoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:6039	uveal melanoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155951	DUSP11	dual specificity phosphatase 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315996	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155964	ZC3H12D	zinc finger CCCH-type containing 12D	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12155964	ZC3H12D	zinc finger CCCH-type containing 12D	gene	DOID:1115	sarcoma		ISO	RGD:1345806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155964	ZC3H12D	zinc finger CCCH-type containing 12D	gene	DOID:2394	ovarian cancer		ISO	RGD:1345806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12155964	ZC3H12D	zinc finger CCCH-type containing 12D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345806	D	RGD:9068941	20250814	CTD		CTD Direct Evidence: marker/mechanism	PMID:34545456
12155964	ZC3H12D	zinc finger CCCH-type containing 12D	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155978	TCF3	transcription factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12155978	TCF3	transcription factor 3	gene	DOID:0080630	B-lymphoblastic leukemia/lymphoma		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19246562
12155978	TCF3	transcription factor 3	gene	DOID:0081140	agammaglobulinemia 8A		ISO	RGD:1351290	D	RGD:7240710	20220831	OMIM			
12155978	TCF3	transcription factor 3	gene	DOID:0081140	agammaglobulinemia 8A		ISO	RGD:1351290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8A, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Agammaglobulinemia 8, autosomal dominant	PMID:24216514|PMID:25741868|PMID:28492532|PMID:33905048|PMID:37277074
12155978	TCF3	transcription factor 3	gene	DOID:0081143	agammaglobulinemia 8B		ISO	RGD:1351290	D	RGD:7240710	20220831	OMIM			
12155978	TCF3	transcription factor 3	gene	DOID:0081143	agammaglobulinemia 8B		ISO	RGD:1351290	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO TCF3 DEFECT | ClinVar Annotator: match by term: Agammaglobulinemia 8b, autosomal recessive	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:0111152	multicentric Castleman disease		ISO	RGD:1351290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: TAFRO syndrome	
12155978	TCF3	transcription factor 3	gene	DOID:10283	prostate cancer	severity	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD			PMID:22564737|REF_RGD_ID:13506819
12155978	TCF3	transcription factor 3	gene	DOID:1115	sarcoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12155978	TCF3	transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12155978	TCF3	transcription factor 3	gene	DOID:1909	melanoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17576681|PMID:28492532|PMID:9536098
12155978	TCF3	transcription factor 3	gene	DOID:2226	myeloproliferative neoplasm		ISO	RGD:1351290	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Myeloproliferative neoplasm, unclassifiable	PMID:25741868|PMID:28492532|PMID:35101336
12155978	TCF3	transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:2583	agammaglobulinemia		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12155978	TCF3	transcription factor 3	gene	DOID:3275	thymoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12155978	TCF3	transcription factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12155978	TCF3	transcription factor 3	gene	DOID:6039	uveal melanoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17244677|PMID:1967982
12155978	TCF3	transcription factor 3	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		associated with colon cancer	PMID:26212009|REF_RGD_ID:11533019
12155978	TCF3	transcription factor 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12155978	TCF3	transcription factor 3	gene	DOID:9006418	NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia	PMID:25741868
12155978	TCF3	transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12155978	TCF3	transcription factor 3	gene	DOID:9008152	Agammaglobulinemia 8		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: TCF3-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:35982159|PMID:9536098
12155978	TCF3	transcription factor 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12155978	TCF3	transcription factor 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1351290	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12155978	TCF3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD			PMID:24454819|REF_RGD_ID:13432063
12155978	TCF3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		DNA, mRNA:hypomethylation, increased expression	PMID:25375219|REF_RGD_ID:13432058
12155978	TCF3	transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1351290	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:rs1052918 (human)	PMID:23940558|REF_RGD_ID:13432062
12155978	TCF3	transcription factor 3	gene	DOID:9538	multiple myeloma		ISO	RGD:1351290	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Multiple myeloma	
12155978	TCF3	transcription factor 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1351290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26214592
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1316039	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:26220970|PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1316039	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:18591664|PMID:22378279|PMID:25741868|PMID:27028743|PMID:28492532|PMID:31589614
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:1316039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:22584458|PMID:23834499|PMID:23861362|PMID:24014171|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:1316039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:1316039	D	RGD:7240710	20180130	OMIM			
12156000	SNTA1	syntrophin alpha 1	gene	DOID:0110653	long QT syndrome 12		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 12 | ClinVar Annotator: match by term: SNTA1-related condition	PMID:18591664|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:27028743|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:38426305
12156000	SNTA1	syntrophin alpha 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:13884	sick sinus syndrome		ISO	RGD:1316039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sick sinus syndrome	PMID:25741868|PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:1824	status epilepticus		ISO	RGD:1307068	D	RGD:9068941	20200609	RGD		protein:decreased expression:piriform cortex	PMID:20886625|REF_RGD_ID:5148023
12156000	SNTA1	syntrophin alpha 1	gene	DOID:1824	status epilepticus		ISO	RGD:1316039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20886625
12156000	SNTA1	syntrophin alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316039	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:26220970|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28166811|PMID:28341588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:9536098
12156000	SNTA1	syntrophin alpha 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:16199547|PMID:17576681|PMID:18591664|PMID:19684871|PMID:20009079|PMID:22378279|PMID:22584458|PMID:23376825|PMID:23465283|PMID:23631430|PMID:23834499|PMID:23861362|PMID:24014171|PMID:24319568|PMID:24981977|PMID:25395996|PMID:25640679|PMID:25650408|PMID:25741868|PMID:25864170|PMID:25956966|PMID:26132555|PMID:26159999|PMID:27028743|PMID:27231019|PMID:28074886|PMID:28341588|PMID:28416588|PMID:28492532|PMID:28589536|PMID:28837624|PMID:29247119|PMID:29343803|PMID:29714131|PMID:29806494|PMID:30369311|PMID:30403391|PMID:30471092|PMID:30615648|PMID:30847666|PMID:30975432|PMID:31589614|PMID:31737537|PMID:32032478|PMID:32893267|PMID:34546463|PMID:38426305|PMID:9536098
12156000	SNTA1	syntrophin alpha 1	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infiltrating duct carcinoma of breast	PMID:20009079|PMID:23465283|PMID:23861362|PMID:25741868|PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1316039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23631430|PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1316039	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156000	SNTA1	syntrophin alpha 1	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:1316039	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:28492532
12156000	SNTA1	syntrophin alpha 1	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:1316039	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Romano-Ward syndrome | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624
12156000	SNTA1	syntrophin alpha 1	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:1316039	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Romano-Ward syndrome	PMID:23861362|PMID:25741868|PMID:28492532|PMID:28837624|PMID:32893267
12156000	SNTA1	syntrophin alpha 1	gene	DOID:9007	sudden infant death syndrome	susceptibility	ISO	RGD:1316039	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple	PMID:20009079|REF_RGD_ID:6771369
12156013	RALYL	RALY RNA binding protein like	gene	DOID:1909	melanoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156013	RALYL	RALY RNA binding protein like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12156013	RALYL	RALY RNA binding protein like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156013	RALYL	RALY RNA binding protein like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156013	RALYL	RALY RNA binding protein like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1606457	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21466612
12156013	RALYL	RALY RNA binding protein like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606457	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0050758	metabolic acidosis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic acidosis	PMID:25741868
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0080094	myofibrillar myopathy 3		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary bladder sphincter dysfunction	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110822	hereditary spastic paraplegia 77		ISO	RGD:1342814	D	RGD:7240710	20190315	OMIM			
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0110822	hereditary spastic paraplegia 77		ISO	RGD:1342814	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 77 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 77, autosomal recessive	PMID:25741868|PMID:25851414|PMID:26553276|PMID:28492532|PMID:29126765|PMID:30177229|PMID:31665838|PMID:33168986|PMID:33972171
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111477	combined oxidative phosphorylation deficiency 14		ISO	RGD:1342814	D	RGD:7240710	20180130	OMIM			
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:0111477	combined oxidative phosphorylation deficiency 14		ISO	RGD:1342814	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 14 | ClinVar Annotator: match by term: FARS2-related condition	PMID:22499341|PMID:22833457|PMID:24161539|PMID:25741868|PMID:25851414|PMID:27095821|PMID:27549011|PMID:27652284|PMID:28043061|PMID:28419689|PMID:28492532|PMID:29691679|PMID:30177229|PMID:30250868|PMID:32597768|PMID:33168986|PMID:33972171|PMID:37523899
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:1342814	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:327	syringomyelia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syringomyelia	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:3652	Leigh disease		ISO	RGD:1342814	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:22833457|PMID:25741868|PMID:28492532|PMID:36531778
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:5419	schizophrenia		ISO	RGD:1342814	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:607	paraplegia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Paraplegia	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:1342814	D	RGD:8554872	20260623	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22833457|PMID:28492532
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9003703	Coxa Valga		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coxa valga	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9004484	Sepsis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sepsis	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:28492532
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9471	meningitis		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Meningitis	PMID:25741868|PMID:28492532|PMID:31665838
12156055	FARS2	phenylalanyl-tRNA synthetase 2, mitochondrial	gene	DOID:9993	hypoglycemia		ISO	RGD:1342814	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoglycemia	PMID:25741868
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:1909	melanoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156087	NMRAL1	NmrA like redox sensor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603207	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156096	NTMT2	N-terminal Xaa-Pro-Lys N-methyltransferase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601929	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156096	NTMT2	N-terminal Xaa-Pro-Lys N-methyltransferase 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1601929	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:0070382	developmental and epileptic encephalopathy 95		ISO	RGD:1354267	D	RGD:7240710	20190315	OMIM			
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:0070382	developmental and epileptic encephalopathy 95		ISO	RGD:1354267	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 95 | ClinVar Annotator: match by term: Glycosylphosphatidylinositol biosynthesis defect 18 | ClinVar Annotator: match by term: PIGS-related condition	PMID:25741868|PMID:30269814|PMID:38959600
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:10534	stomach cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:1115	sarcoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:1324	lung cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:4362	cervical cancer		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:5041	esophageal cancer		ISO	RGD:1354267	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:630	genetic disease		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156104	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354267	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156122	TOMM5	translocase of outer mitochondrial membrane 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156122	TOMM5	translocase of outer mitochondrial membrane 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156122	TOMM5	translocase of outer mitochondrial membrane 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347873	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156128	FBXL22	F-box and leucine rich repeat protein 22	gene	DOID:1909	melanoma		ISO	RGD:1350469	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156134	PITPNC1	phosphatidylinositol transfer protein cytoplasmic 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156134	PITPNC1	phosphatidylinositol transfer protein cytoplasmic 1	gene	DOID:1324	lung cancer		ISO	RGD:1312467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12156134	PITPNC1	phosphatidylinositol transfer protein cytoplasmic 1	gene	DOID:3275	thymoma		ISO	RGD:1312467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156134	PITPNC1	phosphatidylinositol transfer protein cytoplasmic 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156134	PITPNC1	phosphatidylinositol transfer protein cytoplasmic 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312467	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156146	UBE2G2	ubiquitin conjugating enzyme E2 G2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156146	UBE2G2	ubiquitin conjugating enzyme E2 G2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156146	UBE2G2	ubiquitin conjugating enzyme E2 G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312541	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156168	SNRNP25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:1115	sarcoma		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156168	SNRNP25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:4362	cervical cancer		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156168	SNRNP25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156168	SNRNP25	small nuclear ribonucleoprotein U11/U12 subunit 25	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156180	CFAP144	cilia and flagella associated protein 144	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156180	CFAP144	cilia and flagella associated protein 144	gene	DOID:10534	stomach cancer		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156180	CFAP144	cilia and flagella associated protein 144	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156180	CFAP144	cilia and flagella associated protein 144	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156180	CFAP144	cilia and flagella associated protein 144	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:2299984	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156212	ZNF425	zinc finger protein 425	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156212	ZNF425	zinc finger protein 425	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156212	ZNF425	zinc finger protein 425	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606140	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:0051064	left ventricular failure		ISO	RGD:730974	D	RGD:9068941	20200609	RGD			PMID:12039490|REF_RGD_ID:1598441
12156223	LOC100855552	creatine kinase B-type	gene	DOID:10534	stomach cancer		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:1909	melanoma		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:299	adenocarcinoma		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12156223	LOC100855552	creatine kinase B-type	gene	DOID:4362	cervical cancer		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2828370
12156223	LOC100855552	creatine kinase B-type	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:730974	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12156223	LOC100855552	creatine kinase B-type	gene	DOID:5844	myocardial infarction		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12359538
12156223	LOC100855552	creatine kinase B-type	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12156223	LOC100855552	creatine kinase B-type	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15966572
12156223	LOC100855552	creatine kinase B-type	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11406506
12156223	LOC100855552	creatine kinase B-type	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730974	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156223	LOC100855552	creatine kinase B-type	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730974	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12156235	UCN3	urocortin 3	gene	DOID:850	lung disease		ISO	RGD:1352070	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
12156235	UCN3	urocortin 3	gene	DOID:9005372	Inflammation		ISO	RGD:1352070	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16855006
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080497	ovarian dysgenesis 5		ISO	RGD:1605184	D	RGD:7240710	20190315	OMIM			
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080497	ovarian dysgenesis 5		ISO	RGD:1605184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: OVARIAN DYSGENESIS 5 | ClinVar Annotator: match by term: Ovarian dysgenesis 5 | ClinVar Annotator: match by term: SOHLH1-related disorder | ClinVar Annotator: match by term: ovarian dysgenesis 5	PMID:25741868|PMID:25774885|PMID:28492532
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1605184	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0111925	spermatogenic failure 32		ISO	RGD:1605184	D	RGD:7240710	20190315	OMIM			
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:0111925	spermatogenic failure 32		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 32	PMID:25741868
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:1924	hypogonadism		ISO	RGD:1605184	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypergonadotropic hypogonadism	PMID:25741868|PMID:25774885
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:3275	thymoma		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605184	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156294	SOHLH1	spermatogenesis and oogenesis specific basic helix-loop-helix 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1605184	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:10763	hypertension		ISO	RGD:619937	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:kidney (rat)	PMID:19829664|REF_RGD_ID:4892132
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:10763	hypertension	no_association	ISO	RGD:619937	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:16840655|REF_RGD_ID:2298761
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:1176	bronchial disease		ISO	RGD:1552437	D	RGD:9068941	20200609	RGD		Allergic Airway Disease	PMID:15681819|REF_RGD_ID:4892197
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:2841	asthma		ISO	RGD:1552437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:16290206|REF_RGD_ID:4892195
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:4362	cervical cancer		ISO	RGD:1349737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy		ISO	RGD:1552437	D	RGD:9068941	20200609	RGD			PMID:19050296|REF_RGD_ID:4890012
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349737	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:614	lymphopenia		ISO	RGD:619937	D	RGD:9068941	20200609	RGD		protein:decreased expression:small intestine villus (rat)	PMID:19393265|REF_RGD_ID:4892224
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:9001488	Human Influenza	resistance	ISO	RGD:1552437	D	RGD:9068941	20200609	RGD			PMID:19847203|REF_RGD_ID:4892196
12156366	CCL28	C-C motif chemokine ligand 28	gene	DOID:9008225	Respirovirus Infections		ISO	RGD:1552437	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:17954569|REF_RGD_ID:4892194
12156371	SMYD1	SET and MYND domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156371	SMYD1	SET and MYND domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156371	SMYD1	SET and MYND domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:0070281	primary autosomal recessive microcephaly 19		ISO	RGD:732794	D	RGD:7240710	20190315	OMIM			
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:0070281	primary autosomal recessive microcephaly 19		ISO	RGD:732794	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: COPB2-related condition | ClinVar Annotator: match by term: Microcephaly 19, primary, autosomal recessive	PMID:25741868|PMID:28492532|PMID:29036432|PMID:34450031|PMID:37734708
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:0080600	COVID-19		ISO	RGD:732794	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:10534	stomach cancer		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:10907	microcephaly		ISO	RGD:1550457	D	RGD:9068941	20220825	MouseDO		OMIM:251200 | OMIM:604321 | OMIM:604804 | OMIM:608393 | OMIM:608716 | OMIM:612703	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:1115	sarcoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:1324	lung cancer		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:3275	thymoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:4362	cervical cancer		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:630	genetic disease		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:9001870	Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay		ISO	RGD:732794	D	RGD:7240710	20220608	OMIM			
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:9001870	Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay		ISO	RGD:732794	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: OSTEOPOROSIS, CHILDHOOD- OR JUVENILE-ONSET, WITH DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Osteoporosis, childhood- or juvenile-onset, with developmental delay	PMID:25741868|PMID:29036432|PMID:34450031|PMID:37734708
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156386	COPB2	COPI coat complex subunit beta 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732794	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type		ISO	RGD:1315952	D	RGD:7240710	20180130	OMIM			
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050812	spondyloepimetaphyseal dysplasia, Pakistani type		ISO	RGD:1315952	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES | ClinVar Annotator: match by term: PAPSS2-related condition | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, pakistani type	PMID:22791835|PMID:23633440|PMID:24033266|PMID:25594860|PMID:25741868|PMID:28492532|PMID:9771708
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:28492532
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:630	genetic disease		ISO	RGD:1315952	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9007661	Dwarfism		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156412	PAPSS2	3'-phosphoadenosine 5'-phosphosulfate synthase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:0060058	lymphoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:10534	stomach cancer		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:1115	sarcoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1342632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19915576
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:1909	melanoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:850	lung disease		ISO	RGD:1342632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156431	BST1	bone marrow stromal cell antigen 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1342632	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:0060058	lymphoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:1324	lung cancer		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:1909	melanoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:3275	thymoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1321095	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156452	ZER1	zyg-11 related cell cycle regulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321095	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156474	DYTN	dystrotelin	gene	DOID:3275	thymoma		ISO	RGD:1606642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156474	DYTN	dystrotelin	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12156474	DYTN	dystrotelin	gene	DOID:4362	cervical cancer		ISO	RGD:1606642	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:1115	sarcoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:1324	lung cancer		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:13580	cholestasis		ISO	RGD:1353786	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18706437
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:1909	melanoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:3275	thymoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:619876	D	RGD:9068941	20200609	RGD			PMID:27085842|REF_RGD_ID:26884454
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353786	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156508	SLC23A2	solute carrier family 23 member 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353786	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:731273	D	RGD:9068941	20260205	RGD		mRNA:decreased expression:buccal mucosa	PMID:23448392|REF_RGD_ID:632517891
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:10763	hypertension		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:alveolar system (human)	PMID:32496587|REF_RGD_ID:150383342
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:12506	Bell's palsy	exacerbates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		protein:increased expression:blood serum (human)	PMID:32149981|REF_RGD_ID:150429625
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:1474	aggressive periodontitis		ISO	RGD:731273	D	RGD:9068941	20210910	RGD		protein:increased expression:gingiva (human)	PMID:27176139|REF_RGD_ID:150429628
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:1826	epilepsy		ISO	RGD:3372	D	RGD:9068941	20200609	RGD			PMID:20626060|REF_RGD_ID:4890972
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:1883	hepatitis C	ameliorates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:23903655|REF_RGD_ID:150429630
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731273	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:3310	atopic dermatitis		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:zone of skin (human)	PMID:32496587|REF_RGD_ID:150383342
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17094902
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:4947	cholangiocarcinoma	ameliorates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		human cell line and construct in a mouse model	PMID:21871105|REF_RGD_ID:150429623
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:526	human immunodeficiency virus infectious disease	disease_progression	ISO	RGD:731273	D	RGD:9068941	20210903	RGD		DNA:SNPs:promotor, intron 1: 1604C>G,  2653A>C (rs8177826, rs3735481) (human)	PMID:17590083|REF_RGD_ID:150383341
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:649	prion disease	exacerbates	ISO	RGD:11131	D	RGD:9068941	20210903	RGD			PMID:31181281|REF_RGD_ID:150383343
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19424620
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9000371	influenza A	ameliorates	ISO	RGD:731273	D	RGD:9068941	20210910	RGD		human gene in a mouse model	PMID:27354005|REF_RGD_ID:150429624
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9000469	Viral Myocarditis	ameliorates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD		associated with Coxsackievirus Infections	PMID:22446162|REF_RGD_ID:150429627
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21956400
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:29680745|REF_RGD_ID:150429626
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731273	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9007364	Mouth Neoplasms		ISO	RGD:731273	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15274141
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9008225	Respirovirus Infections	exacerbates	ISO	RGD:11131	D	RGD:9068941	20210910	RGD			PMID:28594325|REF_RGD_ID:150429629
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:731273	D	RGD:9068941	20210910	RGD		mRNA, protein:increased expression:blood serum, nasopharynx, extracellular exosome (human)	PMID:31063269|REF_RGD_ID:150429622
12156548	LOC403581	peptidylprolyl isomerase A (cyclophilin A) pseudogene	gene	DOID:9970	obesity		ISO	RGD:731273	D	RGD:9068941	20210903	RGD		mRNA:increased expression:blood (human)	PMID:32496587|REF_RGD_ID:150383342
12156557	NEFH	neurofilament heavy chain	gene	DOID:0040089	autoimmune optic neuritis	severity	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:23316360|REF_RGD_ID:27226805
12156557	NEFH	neurofilament heavy chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:0050328	congenital hypothyroidism		ISO	RGD:3159	D	RGD:9068941	20200609	RGD		protein:decreased expression, increased phosphorylation	PMID:18845185|REF_RGD_ID:9693732
12156557	NEFH	neurofilament heavy chain	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:736723	D	RGD:7240710	20260729	OMIM			
12156557	NEFH	neurofilament heavy chain	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:736723	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1 | ClinVar Annotator: match by term: NEFH-related condition	PMID:25741868|PMID:28430856|PMID:28492532|PMID:28749476|PMID:29411640|PMID:29650794|PMID:32293029|PMID:35047667|PMID:38775181|PMID:7849698
12156557	NEFH	neurofilament heavy chain	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:736723	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 1, FAMILIAL | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29650794|PMID:32409511|PMID:34426522|PMID:38775181|PMID:9536098|PMID:9931323
12156557	NEFH	neurofilament heavy chain	gene	DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC		ISO	RGD:736723	D	RGD:7240710	20260729	OMIM			
12156557	NEFH	neurofilament heavy chain	gene	DOID:0110180	Charcot-Marie-Tooth disease axonal type 2CC		ISO	RGD:736723	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC | ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2CC | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2CC | ClinVar Annotator: match by term: NEFH-related condition	PMID:17576681|PMID:25741868|PMID:27040688|PMID:28492532|PMID:29411640|PMID:29587262|PMID:30992180|PMID:32166880|PMID:32638105|PMID:36549973|PMID:36600740|PMID:37152709|PMID:37952009|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:0110182	Charcot-Marie-Tooth disease axonal type 2C		ISO	RGD:736723	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy Type 2C	PMID:25741868
12156557	NEFH	neurofilament heavy chain	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:11260	rabies		ISO	RGD:10969	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord:	PMID:29509660|REF_RGD_ID:27226884
12156557	NEFH	neurofilament heavy chain	gene	DOID:11446	sciatic neuropathy		ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:3135913|REF_RGD_ID:9693730
12156557	NEFH	neurofilament heavy chain	gene	DOID:11446	sciatic neuropathy	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:12445968|REF_RGD_ID:9743941
12156557	NEFH	neurofilament heavy chain	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:736723	D	RGD:9068941	20210618	RGD		protein:increased expression:CSF (human)	PMID:27929120|REF_RGD_ID:127284887
12156557	NEFH	neurofilament heavy chain	gene	DOID:1210	optic neuritis		ISO	RGD:736723	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:29085182|REF_RGD_ID:27226813
12156557	NEFH	neurofilament heavy chain	gene	DOID:1210	optic neuritis	severity	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:15258226|REF_RGD_ID:27226814
12156557	NEFH	neurofilament heavy chain	gene	DOID:1459	hypothyroidism	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:10439464|REF_RGD_ID:9743942
12156557	NEFH	neurofilament heavy chain	gene	DOID:1596	depressive disorder		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:1686	glaucoma		ISO	RGD:3159	D	RGD:9068941	20200609	RGD		protein:decreased expression:optic nerve:	PMID:28498493|REF_RGD_ID:27226819
12156557	NEFH	neurofilament heavy chain	gene	DOID:1824	status epilepticus		ISO	RGD:736723	D	RGD:9068941	20241116	RGD		protein:increased expression:cerebral spinal fluid	PMID:22509781|REF_RGD_ID:7257648
12156557	NEFH	neurofilament heavy chain	gene	DOID:2030	anxiety disorder		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3159	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:8726968|REF_RGD_ID:9743938
12156557	NEFH	neurofilament heavy chain	gene	DOID:2377	multiple sclerosis	severity	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:16764346|REF_RGD_ID:27226808
12156557	NEFH	neurofilament heavy chain	gene	DOID:2378	relapsing-remitting multiple sclerosis	treatment	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:15222692|REF_RGD_ID:27226879
12156557	NEFH	neurofilament heavy chain	gene	DOID:3312	bipolar disorder		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bipolar affective disorder	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532
12156557	NEFH	neurofilament heavy chain	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:10969	D	RGD:9068941	20200609	RGD			PMID:10686419|REF_RGD_ID:13525000
12156557	NEFH	neurofilament heavy chain	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:10969	D	RGD:9068941	20201211	RGD			PMID:29967576|REF_RGD_ID:27226878
12156557	NEFH	neurofilament heavy chain	gene	DOID:574	peripheral nervous system disease		ISO	RGD:736723	D	RGD:9068941	20250710	CTD		CTD Direct Evidence: marker/mechanism	PMID:10447555
12156557	NEFH	neurofilament heavy chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12156557	NEFH	neurofilament heavy chain	gene	DOID:630	genetic disease		ISO	RGD:736723	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23056405|PMID:25741868|PMID:27040688|PMID:28492532|PMID:28709447|PMID:29587262|PMID:30992180|PMID:32638105|PMID:37152709|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12156557	NEFH	neurofilament heavy chain	gene	DOID:7442	monoclonal gammopathy of uncertain significance		ISO	RGD:736723	D	RGD:9068941	20200609	RGD		associated with Peripheral Nervous System Diseases	PMID:12536221|REF_RGD_ID:9693726
12156557	NEFH	neurofilament heavy chain	gene	DOID:7725	epilepsy with generalized tonic-clonic seizures		ISO	RGD:736723	D	RGD:9068941	20241116	RGD		protein:increased expression:cerebral spinal fluid	PMID:22509781|REF_RGD_ID:7257648
12156557	NEFH	neurofilament heavy chain	gene	DOID:8869	neuromyelitis optica		ISO	RGD:736723	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:23316360|REF_RGD_ID:27226805
12156557	NEFH	neurofilament heavy chain	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:18772508|PMID:32168135|REF_RGD_ID:27226888|REF_RGD_ID:9698443
12156557	NEFH	neurofilament heavy chain	gene	DOID:9000794	Sporadic Creutzfeldt-Jakob Disease		ISO	RGD:736723	D	RGD:9068941	20210625	RGD		protein:increased expression:CSF (human)	PMID:27929120|REF_RGD_ID:127284887
12156557	NEFH	neurofilament heavy chain	gene	DOID:9001733	Tinnitus		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17576681|PMID:28492532|PMID:9536098
12156557	NEFH	neurofilament heavy chain	gene	DOID:9001767	Unilateral Hearing Loss	disease_progression	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:27457532|REF_RGD_ID:27372873
12156557	NEFH	neurofilament heavy chain	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:21071147|REF_RGD_ID:27226885
12156557	NEFH	neurofilament heavy chain	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:3159	D	RGD:9068941	20200609	RGD		protein:decreased expression:neuron	PMID:10646539|REF_RGD_ID:9698439
12156557	NEFH	neurofilament heavy chain	gene	DOID:9003034	Anti-N-Methyl-D-Aspartate Receptor Encephalitis	treatment	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:31313506|REF_RGD_ID:27226816
12156557	NEFH	neurofilament heavy chain	gene	DOID:9003740	Nerve Injuries	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:24269493|REF_RGD_ID:27226886
12156557	NEFH	neurofilament heavy chain	gene	DOID:9004484	Sepsis	severity	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:30677080|REF_RGD_ID:27226881
12156557	NEFH	neurofilament heavy chain	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:12941778|REF_RGD_ID:9698428
12156557	NEFH	neurofilament heavy chain	gene	DOID:9006380	Bilateral Hearing Loss	disease_progression	ISO	RGD:3159	D	RGD:9068941	20200609	RGD			PMID:27457532|REF_RGD_ID:27372873
12156557	NEFH	neurofilament heavy chain	gene	DOID:9007752	Chronic Relapsing Experimental Autoimmune Encephalomyelitis		ISO	RGD:10969	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord:	PMID:12742652|REF_RGD_ID:27226817
12156557	NEFH	neurofilament heavy chain	gene	DOID:9007842	Sepsis-Associated Encephalopathy	severity	ISO	RGD:736723	D	RGD:9068941	20200609	RGD			PMID:30677080|REF_RGD_ID:27226881
12156557	NEFH	neurofilament heavy chain	gene	DOID:9281	phenylketonuria		ISO	RGD:3159	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:7507064|REF_RGD_ID:9693700
12156557	NEFH	neurofilament heavy chain	gene	DOID:9834	hyperopia		ISO	RGD:736723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17576681|PMID:28492532|PMID:9536098
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma	disease_progression	ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin (human)	PMID:20505746|REF_RGD_ID:11087556
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:13922	eosinophilic esophagitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus (human)	PMID:24704289|REF_RGD_ID:11081157
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:13922	eosinophilic esophagitis	treatment	ISO	RGD:1344177	D	RGD:9068941	20200609	RGD			PMID:18844613|REF_RGD_ID:11081156
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:2841	asthma		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		DNA:SNPs: :77C>T, 2497T>G (human)	PMID:15207712|REF_RGD_ID:4891495
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:2841	asthma		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		DNA:SNPs: :77C>T, 716A>G, 1579G>A (human)	PMID:18712274|REF_RGD_ID:4891483
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:2841	asthma		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16304252|REF_RGD_ID:5130930
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:2841	asthma	treatment	ISO	RGD:1587817	D	RGD:9068941	20200609	RGD			PMID:25399816|REF_RGD_ID:11087575
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:2841	asthma	treatment	ISO	RGD:1619597	D	RGD:9068941	20200609	RGD			PMID:25530546|REF_RGD_ID:11081163
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:3049	Churg-Strauss syndrome		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:21266446|REF_RGD_ID:11081158
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:3310	atopic dermatitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:14616792|REF_RGD_ID:11087554
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:16620281|REF_RGD_ID:11081161
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:4031	eosinophilic gastroenteritis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gastric antrum (human)	PMID:25234644|REF_RGD_ID:11081160
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:4481	allergic rhinitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:oronasal secretion (human)	PMID:23883806|REF_RGD_ID:7364793
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:4483	rhinitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :2497T>G (human)	PMID:15580493|REF_RGD_ID:4891493
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:4483	rhinitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		associated with Eosinophilia;protein:increased expression:oronasal secretion (human)	PMID:24989688|REF_RGD_ID:11531119
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344177	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:8506	bullous pemphigoid		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:blister, serum (human)	PMID:21881593|REF_RGD_ID:11087555
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:esophagus (human)	PMID:17900656|REF_RGD_ID:11081162
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9000406	Eosinophilic Asthma	severity	ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum (human)	PMID:25936567|REF_RGD_ID:11531115
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9001371	Eosinophilia		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		associated with Pleural Effusion	PMID:15947325|REF_RGD_ID:5130928
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9001371	Eosinophilia		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		associated with Sinusitis	PMID:19296494|REF_RGD_ID:4891487
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9001472	Nasal Polyps		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		associated with Sinusitis;mRNA:increased expression:nasal cavity epithelium	PMID:21303604|REF_RGD_ID:5130929
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9003778	Eosinophilic Pustular Folliculitis		ISO	RGD:1344177	D	RGD:9068941	20200609	RGD		protein:increased expression:skin, sebocyte (human)	PMID:22206772|REF_RGD_ID:11081159
12156590	CCL26	C-C motif chemokine ligand 26	gene	DOID:9415	allergic asthma	treatment	ISO	RGD:1619597	D	RGD:9068941	20200609	RGD			PMID:25530546|REF_RGD_ID:11081163
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1605894	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:25741868
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1617201	D	RGD:9068941	20220825	MouseDO		OMIM:306955 | OMIM:605376 | OMIM:606325 | OMIM:613751 | OMIM:614779	
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0070579	spermatogenic failure 80		ISO	RGD:1605894	D	RGD:7240710	20230215	OMIM			
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0070579	spermatogenic failure 80		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 80 | ClinVar Annotator: match by term: Spermatogenic failure 80	PMID:23354437|PMID:25741868|PMID:28492532|PMID:31960620|PMID:34169321
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0110596	primary ciliary dyskinesia 21		ISO	RGD:1605894	D	RGD:7240710	20180130	OMIM			
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:0110596	primary ciliary dyskinesia 21		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 21, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 21 | ClinVar Annotator: match by term: primary ciliary dyskinesia 21	PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31270959|PMID:31701675|PMID:31960620|PMID:34768622|PMID:39349394|PMID:39462806
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:1324	lung cancer		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:1909	melanoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:630	genetic disease		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12156605	DRC1	dynein regulatory complex subunit 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1605894	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:23354437|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31040315|PMID:31213628|PMID:31270959|PMID:31701675|PMID:31960620|PMID:9536098
12156630	KRCC1	lysine rich coiled-coil 1	gene	DOID:10534	stomach cancer		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156630	KRCC1	lysine rich coiled-coil 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12156630	KRCC1	lysine rich coiled-coil 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605393	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:10140	dry eye syndrome		ISO	RGD:1556953	D	RGD:9068941	20221103	MouseDO			
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:1115	sarcoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:1324	lung cancer		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:1909	melanoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1344680	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344680	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156664	FAR2	fatty acyl-CoA reductase 2	gene	DOID:987	alopecia		ISO	RGD:1556953	D	RGD:9068941	20220825	MouseDO		OMIM:300042	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868|PMID:26047794|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:736512	D	RGD:9068941	20200609	RGD			PMID:20418498|REF_RGD_ID:7243099
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:736512	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (mouse)	PMID:18835926|REF_RGD_ID:7242940
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:733686	D	RGD:9068941	20200609	RGD		DNA:deletions, snps:multiple (human)	PMID:16358215|REF_RGD_ID:7242925
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:736512	D	RGD:9068941	20200609	RGD			PMID:19570882|REF_RGD_ID:7242924
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0050947	hereditary hypophosphatemic rickets with hypercalciuria		ISO	RGD:736512	D	RGD:9068941	20220825	MouseDO		OMIM:241530	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0060002	C1 inhibitor deficiency		ISO	RGD:11666274	D	RGD:9068941	20260604	ClinVar		ClinVar Annotator: match by term: C1 ESTERASE INHIBITOR DEFICIENCY	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0061135	infantile hypercalcemia 2		ISO	RGD:733686	D	RGD:7240710	20190315	OMIM			
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0061135	infantile hypercalcemia 2		ISO	RGD:733686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HYPERCALCEMIA, INFANTILE, 2 | ClinVar Annotator: match by term: Hypercalcemia, infantile, 2	PMID:16199547|PMID:16688119|PMID:17576681|PMID:21597970|PMID:24033266|PMID:25296721|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29924459|PMID:29959532|PMID:30476936|PMID:30778725|PMID:31188746|PMID:31672324|PMID:33099630|PMID:33226606|PMID:33536578|PMID:34426522|PMID:34805638|PMID:34902613|PMID:35414099|PMID:36134775|PMID:36596813|PMID:36865011|PMID:37432176|PMID:38586466|PMID:38753084|PMID:38972501|PMID:39256228|PMID:39461557|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080006	bone development disease		ISO	RGD:733686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9560283
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1		ISO	RGD:733686	D	RGD:7240710	20180130	OMIM			
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080077	hypophosphatemic nephrolithiasis/osteoporosis 1		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypophosphatemic nephrolithiasis/osteoporosis 1 | ClinVar Annotator: match by term: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1	PMID:12324554|PMID:14672348|PMID:16199547|PMID:16688119|PMID:17576681|PMID:24033266|PMID:25050900|PMID:25082825|PMID:25741868|PMID:26047794|PMID:26272126|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29959532|PMID:30943683|PMID:31188746|PMID:31672324|PMID:32593617|PMID:34426522|PMID:34805638|PMID:36134775|PMID:37132631|PMID:38586466|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080527	bronchiectasis 2		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bronchiectasis with or without elevated sweat chloride 2	PMID:24352629|PMID:25741868
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080758	Fanconi renotubular syndrome 2		ISO	RGD:733686	D	RGD:7240710	20190327	OMIM			
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0080758	Fanconi renotubular syndrome 2		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Fanconi renotubular syndrome 2	PMID:16199547|PMID:16688119|PMID:17576681|PMID:20335586|PMID:24033266|PMID:25741868|PMID:26047794|PMID:26787776|PMID:27378183|PMID:28492532|PMID:28893421|PMID:29029121|PMID:29959532|PMID:30778725|PMID:31672324|PMID:33226606|PMID:34426522|PMID:34532044|PMID:34805638|PMID:35738466|PMID:36134775|PMID:38586466|PMID:38972501|PMID:39256228|PMID:39461557|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:0111365	benign familial hematuria		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microscopic hematuria	PMID:25741868|PMID:26047794|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:10283	prostate cancer		ISO	RGD:733686	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:10283	prostate cancer		ISO	RGD:733686	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:10534	stomach cancer		ISO	RGD:733686	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:1062	Fanconi syndrome		ISO	RGD:733686	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:1062	Fanconi syndrome		ISO	RGD:733686	D	RGD:9068941	20200609	RGD		DNA:duplication:exon:g.2061_2081dup (human)	PMID:20335586|REF_RGD_ID:7242923
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:11111	hydronephrosis		ISO	RGD:736512	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exon:p.A499V, p.V528M (mouse)	PMID:18550648|REF_RGD_ID:7243122
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:1227	neutropenia		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neutropenia	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:12678	hypercalcemia		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercalcemia	PMID:17576681|PMID:25741868|PMID:26047794|PMID:28492532|PMID:31672324|PMID:34426522|PMID:38586466|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephrocalcinosis	PMID:16199547|PMID:16688119|PMID:17576681|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532|PMID:31672324|PMID:34426522|PMID:38586466|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:14219	renal tubular acidosis		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal tubular acidosis | ClinVar Annotator: match by term: renal tubular acidosis	PMID:25741868|PMID:26047794|PMID:28492532|PMID:31188746
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:1459	hypothyroidism		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:decreased expression:renal cortex, brush border membrane (rat)	PMID:17409279|REF_RGD_ID:7243134
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:3021	acute kidney failure	disease_progression	ISO	RGD:736512	D	RGD:9068941	20200609	RGD		associated with Sepsis; protein:decreased expression:renal proximal tubule (mouse)	PMID:19729856|REF_RGD_ID:7242943
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:3275	thymoma		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:736512	D	RGD:9068941	20200609	RGD		protein:decreased expression:kidney, brush border membrane (mouse)	PMID:19193726|REF_RGD_ID:7242947
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:585	nephrolithiasis		ISO	RGD:733686	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephrolithiasis	PMID:16199547|PMID:25741868|PMID:26047794|PMID:28492532|PMID:28893421|PMID:29959532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:585	nephrolithiasis	onset	ISO	RGD:736512	D	RGD:9068941	20200609	RGD		associated with Hyperoxaluria	PMID:18337544|REF_RGD_ID:7243005
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:614	lymphopenia		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphopenia	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:630	genetic disease		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:783	end stage renal disease		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:renal cortex (rat)	PMID:15452708|REF_RGD_ID:7242930
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:784	chronic kidney disease		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney (rat)	PMID:21826734|REF_RGD_ID:7242935
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:784	chronic kidney disease		ISO	RGD:733686	D	RGD:9068941	20200609	RGD		DNA:snp:intron:IVS9+122A>G rs6420094 (human)	PMID:20383146|REF_RGD_ID:7243100
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:7998	hyperthyroidism		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:increased expression:renal cortex, brush border membrane (rat)	PMID:10098486|REF_RGD_ID:7243131
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:898	autosomal dominant polycystic kidney disease	disease_progression	ISO	RGD:3708	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:renal cortex (rat)	PMID:11004225|REF_RGD_ID:7242933
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9001738	Hypercalciuria		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypercalciuria	PMID:17576681|PMID:25741868|PMID:26047794|PMID:28492532|PMID:31672324|PMID:34426522|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Kidney stone	PMID:16199547|PMID:17576681|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:28893421|PMID:29959532|PMID:31672324|PMID:34426522|PMID:36134775|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9002802	Acidoses		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:altered expression:kidney, brush border membrane (rat)	PMID:19439519|REF_RGD_ID:7242944
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9002802	Acidoses		ISO	RGD:736512	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney (mouse)	PMID:18535837|REF_RGD_ID:7242948
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:decreased expression:renal proximal tubule	PMID:15775707|REF_RGD_ID:2311304
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:733686	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperoxaluria	PMID:17576681|PMID:25741868|PMID:26047794|PMID:26787776|PMID:28492532|PMID:31672324|PMID:34426522|PMID:38972501|PMID:39256228|PMID:40794449|PMID:9536098
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9005216	Infantile Hypercalcemia		ISO	RGD:733686	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9005267	Potassium Deficiency		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:decreased expression:renal cortex, brush border membrane (rat)	PMID:15355967|REF_RGD_ID:7243096
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:3708	D	RGD:9068941	20200609	RGD		protein:decreased expression:renal proximal tubule, brush border membrane (rat)	PMID:15775707|REF_RGD_ID:2311304
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9007406	Distal Renal Tubular Acidosis		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Distal renal tubular acidosis	PMID:25741868|PMID:28492532
12156685	SLC34A1	solute carrier family 34 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733686	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:0112141	retinitis pigmentosa 84		ISO	RGD:1321196	D	RGD:7240710	20190315	OMIM			
12156727	DHX38	DEAH-box helicase 38	gene	DOID:0112141	retinitis pigmentosa 84		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: DHX38-related condition | ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 84	PMID:24737827|PMID:25741868|PMID:28492532|PMID:30208423
12156727	DHX38	DEAH-box helicase 38	gene	DOID:10534	stomach cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:3275	thymoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:4362	cervical cancer		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1321196	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:8501	fundus dystrophy		ISO	RGD:1321196	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:30653986|PMID:9536098
12156727	DHX38	DEAH-box helicase 38	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156727	DHX38	DEAH-box helicase 38	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321196	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:5241	hemangioblastoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioblastoma	PMID:25728774|PMID:27993330|PMID:33729480|PMID:33891857|PMID:33899768|PMID:35355835|PMID:36995941
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:1312092	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068819
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:9009272	Cerebral Cavernous Malformation 5		ISO	RGD:1312092	D	RGD:7240710	20250108	OMIM			
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:9009272	Cerebral Cavernous Malformation 5		ISO	RGD:1312092	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CEREBRAL CAVERNOUS MALFORMATIONS 5, SOMATIC | ClinVar Annotator: match by term: Cerebral cavernous malformations 5 | ClinVar Annotator: match by term: Verrucous venous malformation	PMID:25741868
12156761	MAP3K3	mitogen-activated protein kinase kinase kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312092	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156781	RPA3	replication protein A3	gene	DOID:1909	melanoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156781	RPA3	replication protein A3	gene	DOID:4362	cervical cancer		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156781	RPA3	replication protein A3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156781	RPA3	replication protein A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315635	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:10534	stomach cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1115	sarcoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1324	lung cancer		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:1909	melanoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:3275	thymoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:5041	esophageal cancer		ISO	RGD:1322859	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156793	RNGTT	RNA guanylyltransferase and 5'-phosphatase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:10534	stomach cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:13207	proliferative diabetic retinopathy	disease_progression	ISO	RGD:734409	D	RGD:9068941	20200609	RGD		protein:decreased expression:vitreous:	PMID:22864860|REF_RGD_ID:9685437
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:1324	lung cancer		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:2237	hepatitis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17850827
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:3275	thymoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001191	Cadmium Poisoning		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma:	PMID:24361405|REF_RGD_ID:9685430
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69298	D	RGD:9068941	20200609	RGD			PMID:20957682|REF_RGD_ID:9685427
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:69298	D	RGD:9068941	20200609	RGD			PMID:20392816|REF_RGD_ID:9685429
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9003996	Birth Weight		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23866971
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:734409	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26037280
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:22864860|REF_RGD_ID:9685437
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9008691	Liver Injury		ISO	RGD:69298	D	RGD:9068941	20200609	RGD		protein:increased activity:serum:	PMID:17850827|REF_RGD_ID:9685426
12156818	ENPP2	ectonucleotide pyrophosphatase/phosphodiesterase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734409	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156867	GPRC6A	G protein-coupled receptor class C group 6 member A	gene	DOID:1923	disorder of sexual development		ISO	RGD:1352441	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Disorder of sexual differentiation	
12156867	GPRC6A	G protein-coupled receptor class C group 6 member A	gene	DOID:2394	ovarian cancer		ISO	RGD:1352441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12156867	GPRC6A	G protein-coupled receptor class C group 6 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156882	TMEM86A	transmembrane protein 86A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156882	TMEM86A	transmembrane protein 86A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156882	TMEM86A	transmembrane protein 86A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601825	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:10534	stomach cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1344180	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33589840
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:1324	lung cancer		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:3070	high grade glioma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1344180	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1344180	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156916	CCDC6	coiled-coil domain containing 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344180	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12156929	MFAP3	microfibril associated protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156929	MFAP3	microfibril associated protein 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12156929	MFAP3	microfibril associated protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156929	MFAP3	microfibril associated protein 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1350797	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12156936	CACNG3	calcium voltage-gated channel auxiliary subunit gamma 3	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:736548	D	RGD:9068941	20200609	RGD			PMID:11904235|REF_RGD_ID:728397
12156936	CACNG3	calcium voltage-gated channel auxiliary subunit gamma 3	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:736548	D	RGD:9068941	20200609	RGD		DNA:SNPs: :	PMID:21169531|REF_RGD_ID:13524556
12156944	OPHN1	oligophrenin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156944	OPHN1	oligophrenin 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1557080	D	RGD:9068941	20220825	MouseDO		OMIM:300486 | OMIM:300860 | OMIM:309583	
12156944	OPHN1	oligophrenin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345567	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:0060260	ptosis		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	
12156944	OPHN1	oligophrenin 1	gene	DOID:0060313	tracheomalacia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tracheomalacia	
12156944	OPHN1	oligophrenin 1	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar hypoplasia | ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	PMID:25741868|PMID:28492532|PMID:31474318|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:7240710	20180130	OMIM			
12156944	OPHN1	oligophrenin 1	gene	DOID:0080311	Billuart-type X-linked syndromic intellectual developmental disorder		ISO	RGD:1345567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART-TYPE | ClinVar Annotator: match by term: Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance | ClinVar Annotator: match by term: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | ClinVar Annotator: match by term: OPHN1-related condition | ClinVar Annotator: match by term: OPHN1-related disorder	PMID:10818214|PMID:12807966|PMID:16199547|PMID:16221952|PMID:18414213|PMID:25649377|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:30293248
12156944	OPHN1	oligophrenin 1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	
12156944	OPHN1	oligophrenin 1	gene	DOID:10534	stomach cancer		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156944	OPHN1	oligophrenin 1	gene	DOID:1059	intellectual disability		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:10907	microcephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12156944	OPHN1	oligophrenin 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus | ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156944	OPHN1	oligophrenin 1	gene	DOID:1143	exotropia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:11830	myopia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12156944	OPHN1	oligophrenin 1	gene	DOID:12849	autistic disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:12807966|PMID:16199547|PMID:25741868|PMID:28492532
12156944	OPHN1	oligophrenin 1	gene	DOID:13929	lacrimal duct obstruction		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nasolacrimal duct obstruction	
12156944	OPHN1	oligophrenin 1	gene	DOID:14737	craniofrontonasal syndrome		ISO	RGD:1345567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
12156944	OPHN1	oligophrenin 1	gene	DOID:1596	depressive disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	
12156944	OPHN1	oligophrenin 1	gene	DOID:1826	epilepsy		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:1909	melanoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12156944	OPHN1	oligophrenin 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12156944	OPHN1	oligophrenin 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12156944	OPHN1	oligophrenin 1	gene	DOID:2340	craniosynostosis		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
12156944	OPHN1	oligophrenin 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:2841	asthma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12156944	OPHN1	oligophrenin 1	gene	DOID:4188	echolalia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Echolalia	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1345567	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12156944	OPHN1	oligophrenin 1	gene	DOID:540	strabismus		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:543	dystonia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156944	OPHN1	oligophrenin 1	gene	DOID:630	genetic disease		ISO	RGD:1345567	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10818214|PMID:16221952|PMID:18414213|PMID:23552953|PMID:24105372|PMID:25741868|PMID:26467025|PMID:26542245|PMID:28492532|PMID:31131953|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12156944	OPHN1	oligophrenin 1	gene	DOID:9001581	Constipation		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12156944	OPHN1	oligophrenin 1	gene	DOID:9003816	Macrocephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17941886
12156944	OPHN1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:9068941	20200609	RGD		DNA:deletion:exon	PMID:12805098|REF_RGD_ID:13207442
12156944	OPHN1	oligophrenin 1	gene	DOID:9005867	X-Linked Intellectual Developmental Disorders		ISO	RGD:1345567	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:exon:p.P199_V200insEFSLLMNGLKIFIKCL (human)	PMID:21796728|REF_RGD_ID:13207441
12156944	OPHN1	oligophrenin 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:12807966|PMID:16199547|PMID:25741868|PMID:28492532
12156944	OPHN1	oligophrenin 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Calcaneovalgus deformity	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12156944	OPHN1	oligophrenin 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:33638601
12156944	OPHN1	oligophrenin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12156944	OPHN1	oligophrenin 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12156944	OPHN1	oligophrenin 1	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1345567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:33638601
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:10534	stomach cancer		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:1324	lung cancer		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:2394	ovarian cancer		ISO	RGD:1347062	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:4362	cervical cancer		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12156978	ARHGEF16	Rho guanine nucleotide exchange factor 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347062	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24146755
12157009	RASSF1	Ras association domain family member 1	gene	DOID:0050902	medulloblastoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21880625
12157009	RASSF1	Ras association domain family member 1	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17960617|REF_RGD_ID:2299865
12157009	RASSF1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15987713
12157009	RASSF1	Ras association domain family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:18702824|REF_RGD_ID:2299860
12157009	RASSF1	Ras association domain family member 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19652091
12157009	RASSF1	Ras association domain family member 1	gene	DOID:1395	schistosomiasis		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
12157009	RASSF1	Ras association domain family member 1	gene	DOID:1612	breast cancer		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, mRNA, protein:hypermethylation, decreased expression:promoter, breast	PMID:18425370|REF_RGD_ID:2299869
12157009	RASSF1	Ras association domain family member 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:18483325|REF_RGD_ID:2299868
12157009	RASSF1	Ras association domain family member 1	gene	DOID:1909	melanoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:16545186|REF_RGD_ID:2299867
12157009	RASSF1	Ras association domain family member 1	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter, urinary bladder	PMID:18480993|REF_RGD_ID:2299862
12157009	RASSF1	Ras association domain family member 1	gene	DOID:2871	endometrial carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA, protein:hypermethylation, decreased expression:promoter,	PMID:18469797|REF_RGD_ID:2299863
12157009	RASSF1	Ras association domain family member 1	gene	DOID:299	adenocarcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15639718
12157009	RASSF1	Ras association domain family member 1	gene	DOID:3275	thymoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:365	bladder disease		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23527093
12157009	RASSF1	Ras association domain family member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
12157009	RASSF1	Ras association domain family member 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20220708	RGD		DNA:hypermethylation	PMID:27777637|REF_RGD_ID:152998954
12157009	RASSF1	Ras association domain family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1343966	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:17645803|REF_RGD_ID:2299866
12157009	RASSF1	Ras association domain family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157009	RASSF1	Ras association domain family member 1	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20008439
12157009	RASSF1	Ras association domain family member 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12082623|PMID:15639718
12157009	RASSF1	Ras association domain family member 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18337602
12157009	RASSF1	Ras association domain family member 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1343966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26410583
12157009	RASSF1	Ras association domain family member 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1343966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:0080445	developmental and epileptic encephalopathy 13		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 13	PMID:25741868
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1350407	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:893	Wilson disease		ISO	RGD:1350407	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Wilson disease	PMID:25741868
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:7240710	20190403	OMIM			
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9002761	Dyschromatosis Universalis Hereditaria 1		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 1 | ClinVar Annotator: match by term: Dyschromatosis universalis hereditaria 1	PMID:23333244|PMID:25741868|PMID:26203640|PMID:27659786|PMID:27840890|PMID:27885802|PMID:29956681|PMID:32981204|PMID:37056170
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:7240710	20190424	OMIM			
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9008147	Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma | ClinVar Annotator: match by term: SASH1-related condition	PMID:25741868|PMID:28492532
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12157023	SASH1	SAM and SH3 domain containing 1	gene	DOID:987	alopecia		ISO	RGD:1350407	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: alopecia	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:10534	stomach cancer		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:1909	melanoma		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:5041	esophageal cancer		ISO	RGD:736239	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157054	PITPNB	phosphatidylinositol transfer protein beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736239	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157074	EN2	engrailed homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1343015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25290267
12157074	EN2	engrailed homeobox 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1557783	D	RGD:9068941	20220825	MouseDO			
12157074	EN2	engrailed homeobox 2	gene	DOID:0080855	Parkinsonism		ISO	RGD:1618434	D	RGD:9068941	20200609	RGD			PMID:17015829|REF_RGD_ID:5687199
12157074	EN2	engrailed homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1343015	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024396|PMID:16935268|PMID:19186208|PMID:20523082
12157074	EN2	engrailed homeobox 2	gene	DOID:12849	autistic disorder	susceptibility	ISO	RGD:1343015	D	RGD:9068941	20200806	RGD		DNA:SNPs:intron:rs1861972, rs1861973(human)	PMID:15024396|REF_RGD_ID:1358620
12157074	EN2	engrailed homeobox 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1343015	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157074	EN2	engrailed homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157074	EN2	engrailed homeobox 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157074	EN2	engrailed homeobox 2	gene	DOID:9001661	Taste Disorders		ISO	RGD:1343015	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29953887
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0050453	lissencephaly		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pachygyria	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0060249	scoliosis		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:734453	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Epilepsy of infancy with migrating focal seizures	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0111274	CODAS syndrome		ISO	RGD:734453	D	RGD:7240710	20180130	OMIM			
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:0111274	CODAS syndrome		ISO	RGD:734453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CODAS SYNDROME | ClinVar Annotator: match by term: CODAS syndrome | ClinVar Annotator: match by term: LONP1-related condition	PMID:17576681|PMID:25574826|PMID:25741868|PMID:25741869|PMID:25808063|PMID:26034137|PMID:27878435|PMID:28148925|PMID:28492532|PMID:29408517|PMID:30304514|PMID:31636596|PMID:31923470|PMID:34547244|PMID:36305856|PMID:36685982|PMID:38927725|PMID:5574826|PMID:9536098
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment	PMID:25741868
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:1059	intellectual disability		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:11830	myopia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:11836	clubfoot		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral talipes equinovarus	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:13774	Addison's disease		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary adrenal insufficiency	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:1682	congenital heart disease		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart, malformation of	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:2316	brain ischemia		ISO	RGD:621598	D	RGD:9068941	20200609	RGD			PMID:12082077|REF_RGD_ID:633879
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:326	ischemia		ISO	RGD:621598	D	RGD:9068941	20200609	RGD			PMID:12082077|REF_RGD_ID:633879
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:3650	lactic acidosis		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:27878435|PMID:28492532|PMID:29408517
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:4362	cervical cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:543	dystonia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25741868|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:6000	congestive heart failure		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:25741868
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:630	genetic disease		ISO	RGD:734453	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:5574826
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal hypotonia	PMID:25741868
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Disproportionate short stature	PMID:25741868|PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31923470|PMID:40931319
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12157081	LONP1	lon peptidase 1, mitochondrial	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:734453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12157103	ZNF414	zinc finger protein 414	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157103	ZNF414	zinc finger protein 414	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157103	ZNF414	zinc finger protein 414	gene	DOID:1909	melanoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157103	ZNF414	zinc finger protein 414	gene	DOID:3275	thymoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157103	ZNF414	zinc finger protein 414	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157103	ZNF414	zinc finger protein 414	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157103	ZNF414	zinc finger protein 414	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157103	ZNF414	zinc finger protein 414	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1603942	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157113	MRGBP	MRG domain binding protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:1115	sarcoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:1324	lung cancer		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157113	MRGBP	MRG domain binding protein	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1318486	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:25921748|PMID:28492532|PMID:30866059
12157113	MRGBP	MRG domain binding protein	gene	DOID:3275	thymoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:4362	cervical cancer		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157113	MRGBP	MRG domain binding protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157113	MRGBP	MRG domain binding protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:6039	uveal melanoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157113	MRGBP	MRG domain binding protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318486	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157119	SLC25A47	solute carrier family 25 member 47	gene	DOID:10283	prostate cancer		ISO	RGD:1345966	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12157119	SLC25A47	solute carrier family 25 member 47	gene	DOID:10283	prostate cancer		ISO	RGD:1345966	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12157119	SLC25A47	solute carrier family 25 member 47	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345966	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12157119	SLC25A47	solute carrier family 25 member 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345966	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:10534	stomach cancer		ISO	RGD:1603010	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:3275	thymoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1603010	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12157141	OCEL1	occludin/ELL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603010	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157152	MIR34C	microRNA mir-34c	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1348685	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR	PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532
12157152	MIR34C	microRNA mir-34c	gene	DOID:14330	Parkinson's disease		ISO	RGD:1348685	D	RGD:9068941	20200609	RGD			PMID:21558425|REF_RGD_ID:10755477
12157152	MIR34C	microRNA mir-34c	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12157152	MIR34C	microRNA mir-34c	gene	DOID:9003613	Laryngeal Neoplasms	sexual_dimorphism	ISO	RGD:1348685	D	RGD:9068941	20220825	RGD		miRNA:increased expression:larynx epithelium (human)	PMID:25266939|REF_RGD_ID:153344531
12157152	MIR34C	microRNA mir-34c	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12157152	MIR34C	microRNA mir-34c	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12157152	MIR34C	microRNA mir-34c	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24362009
12157152	MIR34C	microRNA mir-34c	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12157152	MIR34C	microRNA mir-34c	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1348685	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:3275	thymoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157164	SECTM1	secreted and transmembrane 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1314321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0014667	disease of metabolism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metabolic disease	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532|PMID:38747114
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1316171	D	RGD:9068941	20220825	MouseDO		OMIM:236670 | OMIM:253280	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050562	West syndrome		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:29801666|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050591	tooth agenesis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050847	sleep apnea		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0051061	stroke		ISO	RGD:1316170	D	RGD:9068941	20200609	RGD			PMID:16374828|REF_RGD_ID:1581205
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0051062	ischemic stroke		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ischemic stroke	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:22574627|PMID:23065703|PMID:23394911|PMID:26220970|PMID:6428250
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0060263	porencephaly		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial porencephaly | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Porencephaly	PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:1867713|PMID:19344236|PMID:20301768|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22522439|PMID:22574627|PMID:22914737|PMID:22932948|PMID:23225343|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25590979|PMID:25719457|PMID:25741868|PMID:25873210|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29602769|PMID:30181649|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:32499604|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33353976|PMID:33527515|PMID:35711275|PMID:36035189|PMID:36161833|PMID:3691802|PMID:37830085|PMID:38025229|PMID:38298677|PMID:38747114|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0060648	anterior segment dysgenesis		ISO	RGD:1316170	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Ocular anterior segment dysgenesis	PMID:17078022|PMID:19344236|PMID:25590979|PMID:25741868|PMID:28492532|PMID:30181649|PMID:32499604|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0060673	Peters anomaly		ISO	RGD:1316170	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0070297	primary microcephaly		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0080205	congenital anomalies of the kidney and urinary tract		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532|PMID:31230195|PMID:38025229
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:19344236|PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: GOULD SYNDROME 1 | ClinVar Annotator: match by term: RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY, AUTOSOMAL DOMINANT	PMID:10713126|PMID:10896941|PMID:12011424|PMID:15023374|PMID:15136694|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:18077766|PMID:19194877|PMID:19344236|PMID:19477666|PMID:20301768|PMID:20385946|PMID:20733150|PMID:21527998|PMID:21625620|PMID:22102590|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24088041|PMID:24374867|PMID:24628545|PMID:25326635|PMID:25457163|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26310487|PMID:26362372|PMID:26467025|PMID:26633545|PMID:28017902|PMID:28369186|PMID:28492532|PMID:29602769|PMID:29927466|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:31857254|PMID:32033901|PMID:32042920|PMID:32488064|PMID:32515830|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:3691802|PMID:6428250|PMID:7257746|PMID:7695699|PMID:8218237|PMID:9016532|PMID:906807|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0090125	brain small vessel disease 1		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE | ClinVar Annotator: match by term: Brain small vessel disease 1 with or without ocular anomalies | ClinVar Annotator: match by term: Brain small vessel disease with hemorrhage | ClinVar Annotator: match by term: Brain small vessel disease with or without ocular anomalies | ClinVar Annotator: match by term: PORENCEPHALY, TYPE 1, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: brain small vessel disease 1 with or without ocular anomalies	PMID:15905400|PMID:16159887|PMID:16199547|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17696175|PMID:17938367|PMID:1867713|PMID:19344236|PMID:20301386|PMID:20301768|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22223490|PMID:22522439|PMID:22574627|PMID:22914737|PMID:22932948|PMID:23065703|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25590979|PMID:25706114|PMID:25719457|PMID:25741868|PMID:25741869|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29602769|PMID:30181649|PMID:30413629|PMID:30837194|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:32042920|PMID:32446163|PMID:32488064|PMID:32499604|PMID:32515830|PMID:32720330|PMID:32732225|PMID:32818659|PMID:33298904|PMID:33353976|PMID:33527515|PMID:34906502|PMID:35325889|PMID:35711275|PMID:36035189|PMID:36161833|PMID:3691802|PMID:37291213|PMID:37830085|PMID:38025229|PMID:38747114|PMID:39433808|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0110764	hereditary spastic paraplegia 11		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gait disturbance	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0111365	benign familial hematuria		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Benign familial hematuria | ClinVar Annotator: match by term: Microscopic hematuria	PMID:19344236|PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0111547	retinal arterial tortuosity		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0111547	retinal arterial tortuosity		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal arterial tortuosity | ClinVar Annotator: match by term: Retinal arteries, tortuosity of	PMID:16598045|PMID:17078022|PMID:17576681|PMID:17938367|PMID:19344236|PMID:20301386|PMID:22102590|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:33353976|PMID:33527515|PMID:35325889|PMID:35711275|PMID:3691802|PMID:37291213|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:0112313	brain small vessel disease		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598045|PMID:17696175
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10126	keratoconus		ISO	RGD:1316170	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10300	Raynaud disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Raynaud phenomenon	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10534	stomach cancer		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10579	leukodystrophy		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:28492532|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1059	intellectual disability		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability	PMID:25741868|PMID:28492532|PMID:33268848|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1074	kidney failure		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10907	microcephaly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:10908	hydrocephalus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aqueductal stenosis | ClinVar Annotator: match by term: Hydrocephalus	PMID:22223490|PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:11111	hydronephrosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydronephrosis	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1115	sarcoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38747114
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:11782	astigmatism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:29801666|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:11830	myopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1281619
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:12361	Graves' disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Graves disease	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:12835	quadriplegia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:12849	autistic disorder		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16191423|PMID:18682491
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:13223	uterine fibroid		ISO	RGD:1316170	D	RGD:9068941	20231102	RGD		mRNA:increased expression:uterus (human)	PMID:23818951|REF_RGD_ID:401851920
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1324	lung cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1432	blindness		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1459	hypothyroidism		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:14686	Axenfeld-Rieger syndrome		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Axenfeld anomaly	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1558	angioedema		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angioedema	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1596	depressive disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1686	glaucoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glaucoma	PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1712	aortic valve stenosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Aortic valve stenosis	PMID:19344236|PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1826	epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:17078022|PMID:19344236|PMID:20301768|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:34120799|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1827	generalized epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1909	melanoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1936	atherosclerosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atherosclerosis	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:1969	cerebral palsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2030	anxiety disorder		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2034	encephalomalacia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalomalacia	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2234	focal epilepsy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2316	brain ischemia		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cerebral ischemia	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2340	craniosynostosis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2841	asthma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:2975	cystic kidney disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:3275	thymoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532|PMID:38747114
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532|PMID:38747114
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:480	movement disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5041	esophageal cancer		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5119	ovarian cyst		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cyst	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5214	demyelinating polyneuropathy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Demyelinating peripheral neuropathy	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:557	kidney disease		ISO	RGD:1316171	D	RGD:9068941	20220825	MouseDO			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5723	optic atrophy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:583	hemolytic anemia		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23225343
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1316170	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.Q1334H (human)	PMID:18077766|REF_RGD_ID:2311341
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:607	paraplegia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16374828|PMID:16598045|PMID:17078022|PMID:17696175|PMID:17938367|PMID:18160688|PMID:1867713|PMID:19194877|PMID:19344236|PMID:19477666|PMID:19840616|PMID:19949034|PMID:20385946|PMID:20733150|PMID:21625620|PMID:2211826|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29801666|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31069529|PMID:31230195|PMID:32446163|PMID:32732225|PMID:33268848|PMID:33353976|PMID:33527515|PMID:34114234|PMID:35150448|PMID:35711275|PMID:36035189|PMID:3691802|PMID:37644014|PMID:37830085|PMID:38025229|PMID:39654947|PMID:6428250|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:630	genetic disease		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10713126|PMID:10896941|PMID:12011424|PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16159887|PMID:16374828|PMID:16598045|PMID:17078022|PMID:17696175|PMID:17938367|PMID:18160688|PMID:1867713|PMID:19194877|PMID:19344236|PMID:19840616|PMID:19949034|PMID:21625620|PMID:2211826|PMID:22574627|PMID:22914737|PMID:23065703|PMID:23225343|PMID:23394911|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26220970|PMID:26467025|PMID:28098982|PMID:28442301|PMID:28492532|PMID:29137252|PMID:29801666|PMID:30413629|PMID:31051113|PMID:31069529|PMID:31230195|PMID:32446163|PMID:32732225|PMID:33268848|PMID:33353976|PMID:33527515|PMID:35150448|PMID:35711275|PMID:36035189|PMID:3691802|PMID:37830085|PMID:38025229|PMID:39654947|PMID:6428250|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:1307148	D	RGD:9068941	20200609	RGD			PMID:25867313|REF_RGD_ID:11041577
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rheumatoid arthritis	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:784	chronic kidney disease		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:7998	hyperthyroidism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:83	cataract		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:848	arthritis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:865	vasculitis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasculitis	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:8725	vascular dementia		ISO	RGD:1316170	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:28492532|PMID:33268848|PMID:35307828
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000053	Headache		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000343	Vision Disorders		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:25741868|PMID:29801666|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000363	Hematuria		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hematuria | ClinVar Annotator: match by term: Macroscopic hematuria	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000373	Muscle Cramp		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: muscle cramp	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000727	Syncope		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:25741868|PMID:28442301|PMID:28492532|PMID:32732225
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001144	Primary Headache Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypnic headache	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001581	Constipation		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001585	Intraventricular Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intraventricular hemorrhage	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001733	Tinnitus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1316170	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18682491|PMID:27997345
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316171	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:17582205|REF_RGD_ID:2311342
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1316171	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin Dependent;mRNA:increased expression:kidney	PMID:19466391|REF_RGD_ID:2311340
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteopenia	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002417	Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE | ClinVar Annotator: match by term: MICROANGIOPATHY AND LEUKOENCEPHALOPATHY, PONTINE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Microangiopathy and leukoencephalopathy, pontine, autosomal dominant	PMID:17078022|PMID:17576681|PMID:19344236|PMID:20301386|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25425218|PMID:25457163|PMID:25741868|PMID:26467025|PMID:27666438|PMID:28098982|PMID:28442301|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31903434|PMID:32732225|PMID:33353976|PMID:33527515|PMID:34120799|PMID:34415564|PMID:35325889|PMID:35711275|PMID:36786861|PMID:3691802|PMID:37291213|PMID:37475185|PMID:37830085|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to	PMID:16159887|PMID:16199547|PMID:17078022|PMID:17576681|PMID:19344236|PMID:21625620|PMID:22522439|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26310487|PMID:26467025|PMID:28492532|PMID:30413629|PMID:30653986|PMID:31051113|PMID:31230195|PMID:31719132|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cerebral hemorrhage | ClinVar Annotator: match by term: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Hemorrhage, intracerebral, susceptibility to | ClinVar Annotator: match by term: Stroke, hemorrhagic, susceptibility to	PMID:16159887|PMID:16598045|PMID:17078022|PMID:17576681|PMID:17938367|PMID:19344236|PMID:20301386|PMID:21527998|PMID:21625620|PMID:22102590|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26362372|PMID:26467025|PMID:28098982|PMID:28492532|PMID:30413629|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31857254|PMID:31903434|PMID:32033901|PMID:33353976|PMID:33527515|PMID:35325889|PMID:35711275|PMID:3691802|PMID:37291213|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leukoencephalopathy	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intracranial Hemorrhages	PMID:16598045|PMID:17078022|PMID:17938367|PMID:19344236|PMID:22102590|PMID:25741868|PMID:26362372|PMID:28492532|PMID:30413629|PMID:31857254|PMID:32033901|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003133	Hypertelorism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003171	Primary Dysautonomias		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysautonomia	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003286	Diplopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diplopia	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003443	Central Nervous System Vascular Malformations		ISO	RGD:1316170	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.G562E (human)	PMID:16598045|REF_RGD_ID:1581204
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003443	Central Nervous System Vascular Malformations		ISO	RGD:1316171	D	RGD:9068941	20200609	RGD			PMID:16598045|REF_RGD_ID:1581204
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003507	Premature Birth		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps		ISO	RGD:1316170	D	RGD:7240710	20260722	OMIM			
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003529	Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS | ClinVar Annotator: match by term: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps	PMID:17078022|PMID:17576681|PMID:19344236|PMID:20301768|PMID:21527998|PMID:22574627|PMID:22914737|PMID:23225343|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31008308|PMID:31051113|PMID:31069529|PMID:31230195|PMID:31719132|PMID:31903434|PMID:33353976|PMID:33527515|PMID:35711275|PMID:3691802|PMID:38025229|PMID:39654947|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9536098|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003760	Myalgia		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Myalgia	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9003824	Infectious Encephalitis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infectious encephalitis	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9004125	Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial hemangioma	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9004139	Hemoptysis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemoptysis	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9004327	Colpocephaly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colpocephaly	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9004538	Hearing Loss		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9004866	Ataxia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1316170	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005077	Joint Instability		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005367	Arachnodactyly		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnodactyly	PMID:19344236|PMID:25741868|PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:17078022|PMID:19344236|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29801666|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9005950	Orthostatic Hypotension		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orthostatic hypotension	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006065	Arthralgia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arthralgia	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006617	Fatigue		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28098982|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006637	Schizencephaly		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:17078022|PMID:19344236|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:28098982|PMID:28492532|PMID:31051113|PMID:32732225|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006743	Spasm		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle spasm	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:22522439|PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007077	Actin-Accumulation Myopathy		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Actin accumulation myopathy	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007271	Hypoalbuminemia		ISO	RGD:1316170	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypoalbuminemia	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007573	Flatfoot		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007612	Arachnoid Cysts		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arachnoid cyst	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:12525718|PMID:15882279|PMID:15905400|PMID:16107487|PMID:16374828|PMID:16598045|PMID:17696175|PMID:17938367|PMID:18160688|PMID:19194877|PMID:19840616|PMID:19949034|PMID:21625620|PMID:22574627|PMID:23065703|PMID:23394911|PMID:26220970|PMID:6428250
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9007736	Vertigo		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008023	Memory Disorders		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:23225343|PMID:25741868|PMID:28492532|PMID:34120799
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1316170	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17078022|PMID:19344236|PMID:20301768|PMID:22574627|PMID:22914737|PMID:24374867|PMID:24628545|PMID:25457163|PMID:25741868|PMID:26467025|PMID:28098982|PMID:28492532|PMID:31051113|PMID:33353976|PMID:33527515|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20385946
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008421	Epistaxis		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epistaxis	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008830	Vasovagal Syncope		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vasovagal syncope	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:930	orbital disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:16199547|PMID:23225343|PMID:25741868|PMID:28492532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:936	brain disease		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9477	pulmonary embolism		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary embolism	PMID:25741868
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:17078022|PMID:19344236|PMID:20301386|PMID:25741868|PMID:28492532|PMID:7695699|PMID:8218237|PMID:9016532
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:3691802|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9775	diastolic heart failure		ISO	RGD:1316170	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9834	hyperopia		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17078022|PMID:19344236|PMID:25741868|PMID:28492532|PMID:29801666|PMID:3691802|PMID:7695699|PMID:8218237|PMID:9016532|PMID:9724608
12157231	COL4A1	collagen type IV alpha 1 chain	gene	DOID:9970	obesity		ISO	RGD:1316170	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:10534	stomach cancer		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:1115	sarcoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157286	FKBP3	FKBP prolyl isomerase 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:1115	sarcoma		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:1909	melanoma		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:3070	high grade glioma		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:732930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18804094
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:5419	schizophrenia		ISO	RGD:2743	D	RGD:9068941	20231207	RGD		mRNA:decreased expression:prefrontal cortex, striatum	PMID:28265857|REF_RGD_ID:401901203
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:5419	schizophrenia		ISO	RGD:732930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18923069
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:670	amphetamine abuse		ISO	RGD:732930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20211215
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:8646	substance-induced psychosis		ISO	RGD:732930	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20211215
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:2743	D	RGD:9068941	20200821	RGD		knockout compared to wild type	PMID:28700935|REF_RGD_ID:38501064
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:9006302	Binge Drinking		ISO	RGD:2743	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732930	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157297	GRM2	glutamate metabotropic receptor 2	gene	DOID:9976	heroin dependence		ISO	RGD:2743	D	RGD:9068941	20200814	RGD			PMID:30283001|REF_RGD_ID:38501063
12157317	PDCD1	programmed cell death 1	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:1323232	D	RGD:9068941	20210219	RGD		mRNA:increased expression:lung	PMID:26378990|REF_RGD_ID:41412180
12157317	PDCD1	programmed cell death 1	gene	DOID:0040084	Streptococcus pneumonia	treatment	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD			PMID:25624454|REF_RGD_ID:40818422
12157317	PDCD1	programmed cell death 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157317	PDCD1	programmed cell death 1	gene	DOID:0060081	triple-negative breast cancer	treatment	ISO	RGD:1323232	D	RGD:9068941	20201117	RGD			PMID:32194569|REF_RGD_ID:40818259
12157317	PDCD1	programmed cell death 1	gene	DOID:0061163	infantile onset multisystem autoimmune disease 4		ISO	RGD:1323231	D	RGD:7240710	20250702	OMIM			
12157317	PDCD1	programmed cell death 1	gene	DOID:0061163	infantile onset multisystem autoimmune disease 4		ISO	RGD:1323231	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autoimmune disease with susceptibility to mycobacterium tuberculosis	
12157317	PDCD1	programmed cell death 1	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1323231	D	RGD:9068941	20210219	RGD			PMID:29058791|REF_RGD_ID:41412178
12157317	PDCD1	programmed cell death 1	gene	DOID:0080159	cryptococcal meningitis	treatment	ISO	RGD:1323232	D	RGD:9068941	20210219	RGD			PMID:29058791|REF_RGD_ID:41412178
12157317	PDCD1	programmed cell death 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1323231	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:15934088|REF_RGD_ID:7248675
12157317	PDCD1	programmed cell death 1	gene	DOID:0080162	lupus nephritis		ISO	RGD:1323231	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:6867 C>T (human)	PMID:15352422|REF_RGD_ID:7248676
12157317	PDCD1	programmed cell death 1	gene	DOID:0080162	lupus nephritis	onset	ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:21041733|REF_RGD_ID:7248678
12157317	PDCD1	programmed cell death 1	gene	DOID:0081463	recurrent respiratory papillomatosis		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD			PMID:22322668|REF_RGD_ID:40822813
12157317	PDCD1	programmed cell death 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323231	D	RGD:9068941	20210212	RGD		associated with Epstein-Barr Virus Infections	PMID:27465786|REF_RGD_ID:41410790
12157317	PDCD1	programmed cell death 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201113	RGD			PMID:32380498|REF_RGD_ID:40818238
12157317	PDCD1	programmed cell death 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		protein:increased expression:Treg cell	PMID:27277012|REF_RGD_ID:40886269
12157317	PDCD1	programmed cell death 1	gene	DOID:10591	pre-eclampsia	treatment	ISO	RGD:1311658	D	RGD:9068941	20201203	RGD			PMID:27277012|REF_RGD_ID:40886269
12157317	PDCD1	programmed cell death 1	gene	DOID:11111	hydronephrosis		ISO	RGD:1332447	D	RGD:9068941	20200609	RGD			PMID:16352741|REF_RGD_ID:7248681
12157317	PDCD1	programmed cell death 1	gene	DOID:1115	sarcoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157317	PDCD1	programmed cell death 1	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1323231	D	RGD:9068941	20201105	RGD		mRNA,protein:increased expression:multiple (human)	PMID:23754510|REF_RGD_ID:40400714
12157317	PDCD1	programmed cell death 1	gene	DOID:12155	lymphocytic choriomeningitis		ISO	RGD:1323232	D	RGD:9068941	20210219	RGD			PMID:23230000|REF_RGD_ID:41410802
12157317	PDCD1	programmed cell death 1	gene	DOID:12155	lymphocytic choriomeningitis	treatment	ISO	RGD:1323232	D	RGD:9068941	20201112	RGD			PMID:30726291|REF_RGD_ID:40818232
12157317	PDCD1	programmed cell death 1	gene	DOID:12361	Graves' disease		ISO	RGD:1323231	D	RGD:9068941	20210416	CTD		CTD Direct Evidence: marker/mechanism	PMID:33132244
12157317	PDCD1	programmed cell death 1	gene	DOID:12549	hepatitis A	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201120	RGD			PMID:26347518|REF_RGD_ID:40818419
12157317	PDCD1	programmed cell death 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1323231	D	RGD:9068941	20201112	RGD		protein:increased expression: CD8 Tcell from nasal wash:	PMID:25465101|REF_RGD_ID:11056952
12157317	PDCD1	programmed cell death 1	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:1323232	D	RGD:9068941	20201112	RGD		protein:increased expression:CD4 Tcell, CD8 Tcell from lung:	PMID:25465101|REF_RGD_ID:11056952
12157317	PDCD1	programmed cell death 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:14595408|REF_RGD_ID:9589058
12157317	PDCD1	programmed cell death 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323232	D	RGD:9068941	20220825	MouseDO			
12157317	PDCD1	programmed cell death 1	gene	DOID:1324	lung cancer		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157317	PDCD1	programmed cell death 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		protein:increased expression:serum	PMID:29702526|REF_RGD_ID:40822808
12157317	PDCD1	programmed cell death 1	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1323231	D	RGD:9068941	20210212	RGD		protein:increased expression:lymphocyte, mononcyte	PMID:26063974|REF_RGD_ID:41410786
12157317	PDCD1	programmed cell death 1	gene	DOID:1679	cystitis		ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:22432050|REF_RGD_ID:7248677
12157317	PDCD1	programmed cell death 1	gene	DOID:1731	histoplasmosis	treatment	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD			PMID:18268348|REF_RGD_ID:40822806
12157317	PDCD1	programmed cell death 1	gene	DOID:1883	hepatitis C	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201112	RGD		DNA:SNP:3' UTR:rs10204525(human)	PMID:25747035|REF_RGD_ID:11052797
12157317	PDCD1	programmed cell death 1	gene	DOID:1909	melanoma		ISO	RGD:1323231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21802280
12157317	PDCD1	programmed cell death 1	gene	DOID:1909	melanoma	treatment	ISO	RGD:1323232	D	RGD:9068941	20201117	RGD		associated with influenza	PMID:27760326|REF_RGD_ID:40818261
12157317	PDCD1	programmed cell death 1	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201117	RGD			PMID:31770816|REF_RGD_ID:40818272
12157317	PDCD1	programmed cell death 1	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		DNA:SNPs,halptype: :rs36084323, rs2227981,rs2227982(human)	PMID:28667037|REF_RGD_ID:40818414
12157317	PDCD1	programmed cell death 1	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		DNA:SNP: :rs2227981(human)	PMID:29786123|REF_RGD_ID:40818423
12157317	PDCD1	programmed cell death 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1323231	D	RGD:9068941	20201113	RGD			PMID:23869988|REF_RGD_ID:40818236
12157317	PDCD1	programmed cell death 1	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1323232	D	RGD:9068941	20210219	RGD			PMID:19781375|REF_RGD_ID:41412171
12157317	PDCD1	programmed cell death 1	gene	DOID:2237	hepatitis		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		protein:increased expression: leukocyte	PMID:19739236|REF_RGD_ID:40818425
12157317	PDCD1	programmed cell death 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PDCD1-related condition	
12157317	PDCD1	programmed cell death 1	gene	DOID:2841	asthma	treatment	ISO	RGD:1323232	D	RGD:9068941	20210219	RGD		associated with Chlamydia pneumonia	PMID:26378990|REF_RGD_ID:41412180
12157317	PDCD1	programmed cell death 1	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1323231	D	RGD:9068941	20201127	RGD		protein:increased expression:Tcell, B cell, monocyte	PMID:23661793|REF_RGD_ID:40818418
12157317	PDCD1	programmed cell death 1	gene	DOID:2957	pulmonary tuberculosis	treatment	ISO	RGD:1323231	D	RGD:9068941	20201127	RGD			PMID:23661793|REF_RGD_ID:40818418
12157317	PDCD1	programmed cell death 1	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1323231	D	RGD:9068941	20250724	RGD		mRNA:increased expression:lung	PMID:34517527|REF_RGD_ID:617256321
12157317	PDCD1	programmed cell death 1	gene	DOID:3951	acute myocarditis	severity	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD		associated with Coxsackievirus Infections;	PMID:17434153|REF_RGD_ID:40822819
12157317	PDCD1	programmed cell death 1	gene	DOID:3951	acute myocarditis	treatment	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD		associated with Coxsackievirus Infections;	PMID:17434153|REF_RGD_ID:40822819
12157317	PDCD1	programmed cell death 1	gene	DOID:399	tuberculosis	treatment	ISO	RGD:1323231	D	RGD:9068941	20210219	RGD			PMID:27865385|REF_RGD_ID:41412174
12157317	PDCD1	programmed cell death 1	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20200609	RGD			PMID:17363529|REF_RGD_ID:7248680
12157317	PDCD1	programmed cell death 1	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:1311658	D	RGD:9068941	20200609	RGD			PMID:21965585|REF_RGD_ID:7248671
12157317	PDCD1	programmed cell death 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1323231	D	RGD:9068941	20210219	RGD			PMID:30161254|REF_RGD_ID:41412179
12157317	PDCD1	programmed cell death 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157317	PDCD1	programmed cell death 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157317	PDCD1	programmed cell death 1	gene	DOID:646	viral encephalitis		ISO	RGD:1323232	D	RGD:9068941	20201113	RGD		protein:increased expression: CD8 T celll	PMID:31105690|REF_RGD_ID:40818239
12157317	PDCD1	programmed cell death 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201117	RGD		associated with hepatitis B;DNA:SNP: : +8669 A>G (human)	PMID:27034168|REF_RGD_ID:40818257
12157317	PDCD1	programmed cell death 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20210219	RGD		associated with hepatitis B	PMID:21912640|REF_RGD_ID:41410800
12157317	PDCD1	programmed cell death 1	gene	DOID:820	myocarditis		ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:21357717|REF_RGD_ID:9589065
12157317	PDCD1	programmed cell death 1	gene	DOID:824	periodontitis		ISO	RGD:1311658	D	RGD:9068941	20201203	RGD		protein:increased expression:periodontium	PMID:32346701|REF_RGD_ID:40886271
12157317	PDCD1	programmed cell death 1	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		associated with Papillomavirus Infections; protein:increased expression:T cell	PMID:23521696|REF_RGD_ID:40822817
12157317	PDCD1	programmed cell death 1	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:1311658	D	RGD:9068941	20201203	RGD			PMID:29665726|REF_RGD_ID:40886268
12157317	PDCD1	programmed cell death 1	gene	DOID:9001228	Fungemia		ISO	RGD:1323232	D	RGD:9068941	20201112	RGD		protein:increased expression:CD4 Tcell, CD8 Tcell:	PMID:23663657|REF_RGD_ID:40818234
12157317	PDCD1	programmed cell death 1	gene	DOID:9001228	Fungemia	treatment	ISO	RGD:1323232	D	RGD:9068941	20201112	RGD			PMID:23663657|REF_RGD_ID:40818234
12157317	PDCD1	programmed cell death 1	gene	DOID:9001953	Pneumovirus Infections	treatment	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD		associated with reinfection	PMID:25339663|REF_RGD_ID:40822811
12157317	PDCD1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1323231	D	RGD:9068941	20201127	RGD		protein:increased expression:CD4 T cell	PMID:27792733|REF_RGD_ID:40818413
12157317	PDCD1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica		ISO	RGD:1323232	D	RGD:9068941	20201203	RGD		protein:increased expression:CD4 T cell	PMID:27792733|REF_RGD_ID:40818413
12157317	PDCD1	programmed cell death 1	gene	DOID:9002433	Schistosomiasis Japonica	severity	ISO	RGD:1323232	D	RGD:9068941	20201203	RGD			PMID:27792733|REF_RGD_ID:40818413
12157317	PDCD1	programmed cell death 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	susceptibility	ISO	RGD:1323232	D	RGD:9068941	20201117	RGD			PMID:24648472|REF_RGD_ID:40818258
12157317	PDCD1	programmed cell death 1	gene	DOID:9002928	Colonic Neoplasms	treatment	ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:19208793|REF_RGD_ID:9589070
12157317	PDCD1	programmed cell death 1	gene	DOID:9004118	Experimental Melanoma	treatment	ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:19208793|REF_RGD_ID:9589070
12157317	PDCD1	programmed cell death 1	gene	DOID:9004283	Transplant Rejection		ISO	RGD:1323232	D	RGD:9068941	20200609	RGD			PMID:17198268|PMID:17489865|REF_RGD_ID:9589060|REF_RGD_ID:9589063
12157317	PDCD1	programmed cell death 1	gene	DOID:9004283	Transplant Rejection	severity	ISO	RGD:1323231	D	RGD:9068941	20200609	RGD		mRNA:increased expression:leukocytes, Mononuclear:	PMID:21518556|REF_RGD_ID:7248673
12157317	PDCD1	programmed cell death 1	gene	DOID:9004484	Sepsis		ISO	RGD:1323231	D	RGD:9068941	20201112	RGD		protein:increased expression:T cell	PMID:30595665|REF_RGD_ID:40818235
12157317	PDCD1	programmed cell death 1	gene	DOID:9004484	Sepsis		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		protein:increased expression:B cell,CD4T cell	PMID:29661225|REF_RGD_ID:40818424
12157317	PDCD1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD			PMID:29702526|REF_RGD_ID:40822808
12157317	PDCD1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20210219	RGD		protein:increased expression:T cell	PMID:27156867|REF_RGD_ID:41412183
12157317	PDCD1	programmed cell death 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1323232	D	RGD:9068941	20201117	RGD			PMID:19332785|REF_RGD_ID:40818273
12157317	PDCD1	programmed cell death 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1323231	D	RGD:9068941	20211210	CTD		CTD Direct Evidence: marker/mechanism	PMID:34166680
12157317	PDCD1	programmed cell death 1	gene	DOID:9006262	Cytomegalovirus Infections	susceptibility	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		associated with kidney transplantation; DNA:SNP: :rs11568821(human)	PMID:19581275|REF_RGD_ID:40818426
12157317	PDCD1	programmed cell death 1	gene	DOID:9006925	Hepatic Echinococcosis		ISO	RGD:1323232	D	RGD:9068941	20210219	RGD		mRNA, protein:increased expression:liver	PMID:25907244|REF_RGD_ID:41412175
12157317	PDCD1	programmed cell death 1	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1323232	D	RGD:9068941	20201117	RGD		protein:increased expression:CD8 T cell	PMID:22797302|REF_RGD_ID:40818270
12157317	PDCD1	programmed cell death 1	gene	DOID:9008114	Helicobacter Infections	severity	ISO	RGD:1323231	D	RGD:9068941	20201203	RGD			PMID:21562113|REF_RGD_ID:40818417
12157317	PDCD1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323231	D	RGD:9068941	20200806	RGD		mRNA:increased expression:liver parenchyma (human)	PMID:22634051|REF_RGD_ID:36947881
12157317	PDCD1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323231	D	RGD:9068941	20201117	RGD		DNA:SNP:exon:	PMID:20700634|REF_RGD_ID:40818262
12157317	PDCD1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1323231	D	RGD:9068941	20201203	RGD		protein:altered expression:serum:	PMID:28983583|REF_RGD_ID:40818415
12157317	PDCD1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B	disease_progression	ISO	RGD:1323231	D	RGD:9068941	20201112	RGD		DNA:SNP:3' UTR:rs10204525(human)	PMID:30016557|REF_RGD_ID:40818231
12157317	PDCD1	programmed cell death 1	gene	DOID:9008163	Chronic Hepatitis B	no_association	ISO	RGD:1323231	D	RGD:9068941	20201112	RGD		DNA:SNPs::+7146 G>A,+7209 C>T(human)	PMID:25736598|REF_RGD_ID:40818233
12157317	PDCD1	programmed cell death 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1311658	D	RGD:9068941	20200609	RGD		protein:increased expression:colonic mucosa, lymphocyte	PMID:24165459|REF_RGD_ID:9589083
12157317	PDCD1	programmed cell death 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157317	PDCD1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323231	D	RGD:9068941	20250313	RGD			PMID:19116915|REF_RGD_ID:7248679
12157317	PDCD1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323231	D	RGD:9068941	20250313	RGD		DNA:polymorphism: : 7,146 G>A (human)	PMID:17228327|REF_RGD_ID:7248674
12157317	PDCD1	programmed cell death 1	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1323232	D	RGD:9068941	20250313	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12157317	PDCD1	programmed cell death 1	gene	DOID:9119	acute myeloid leukemia	treatment	ISO	RGD:1323232	D	RGD:9068941	20210212	RGD			PMID:26712908|REF_RGD_ID:41410789
12157317	PDCD1	programmed cell death 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323232	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:23219834|REF_RGD_ID:7248672
12157317	Pdcd1	programmed cell death 1	gene	DOID:9007730	Burns	treatment	ISO	RGD:1323232	D	RGD:9068941	20210212	RGD		associated with Pseudomonas Infections	PMID:29345058|REF_RGD_ID:41410788
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0050562	West syndrome		ISO	RGD:1353625	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infantile spasms | ClinVar Annotator: match by term: West syndrome	PMID:25741868|PMID:28492532|PMID:29264392|PMID:32366967
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0060260	ptosis		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:18414213|PMID:28492532|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1353625	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:15499549|PMID:16015284|PMID:16813600|PMID:18414213|PMID:19241098|PMID:19564592|PMID:20397747|PMID:20479760|PMID:21160487|PMID:21775177|PMID:22867051|PMID:23064044|PMID:25741868|PMID:26467025|PMID:28492532
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:15499549|PMID:15689447|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:17576681|PMID:17993579|PMID:18266744|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19241098|PMID:19362436|PMID:19471977|PMID:19763152|PMID:19793311|PMID:20307669|PMID:20397747|PMID:20479760|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21482751|PMID:21770923|PMID:21775177|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22678952|PMID:22779007|PMID:22832775|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23236174|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23708187|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27343026|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27781031|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29455050|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30776697|PMID:30898514|PMID:30945278|PMID:31031587|PMID:31171384|PMID:31313283|PMID:31440721|PMID:31487502|PMID:31492455|PMID:31690835|PMID:31791873|PMID:33436160|PMID:33989939|PMID:34120799|PMID:34229227|PMID:34490615|PMID:34837432|PMID:35934918|PMID:36619507|PMID:37088138|PMID:39541770|PMID:9536098
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1353625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like | ClinVar Annotator: match by term: Christianson syndrome	PMID:15499549|PMID:15689447|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16330482|PMID:16611748|PMID:17576681|PMID:17993579|PMID:18266744|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19241098|PMID:19362436|PMID:19471977|PMID:19763152|PMID:19793311|PMID:20307669|PMID:20397747|PMID:20602487|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21482751|PMID:21770923|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22678952|PMID:22779007|PMID:22832775|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23236174|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23708187|PMID:23934111|PMID:24564546|PMID:24715584|PMID:25266480|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27343026|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27781031|PMID:28386848|PMID:28492532|PMID:28837158|PMID:29095814|PMID:29186148|PMID:29190809|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29455050|PMID:29655203|PMID:29852413|PMID:30182498|PMID:30776697|PMID:30898514|PMID:30945278|PMID:31031587|PMID:31171384|PMID:31313283|PMID:31440721|PMID:31487502|PMID:31492455|PMID:31690835|PMID:31791873|PMID:33436160|PMID:33989939|PMID:34120799|PMID:34229227|PMID:34490615|PMID:34837432|PMID:35934918|PMID:36619507|PMID:37088138|PMID:39541770|PMID:9536098
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0060825	Christianson syndrome		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Angelman syndrome-like	PMID:15492925|PMID:15499549|PMID:15689447|PMID:16015284|PMID:16199547|PMID:16326141|PMID:16611748|PMID:17576681|PMID:17993579|PMID:18266744|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19362436|PMID:19471977|PMID:19763152|PMID:19780792|PMID:19793311|PMID:20307669|PMID:20397747|PMID:20848651|PMID:21160487|PMID:21293276|PMID:21309761|PMID:21318334|PMID:21482751|PMID:21770923|PMID:22264704|PMID:22406018|PMID:22430159|PMID:22678952|PMID:22832775|PMID:22872100|PMID:23064044|PMID:23242510|PMID:23262346|PMID:23583054|PMID:23708187|PMID:23934111|PMID:24715584|PMID:25640679|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26467025|PMID:26482601|PMID:26544041|PMID:26993267|PMID:27081548|PMID:27187038|PMID:27265524|PMID:27334371|PMID:27343026|PMID:27391121|PMID:27599155|PMID:27770071|PMID:27779742|PMID:27781031|PMID:27823948|PMID:27848944|PMID:28386848|PMID:28492532|PMID:29095814|PMID:29186148|PMID:29264392|PMID:29390993|PMID:29420175|PMID:29444904|PMID:29455050|PMID:29655203|PMID:30182498|PMID:30776697|PMID:30898514|PMID:30945278|PMID:31031587|PMID:31171384|PMID:31313283|PMID:31440721|PMID:31492455|PMID:31690835|PMID:33436160|PMID:33989939|PMID:34120799|PMID:34229227|PMID:34490615|PMID:34837432|PMID:35934918|PMID:36619507|PMID:37088138|PMID:39541770|PMID:9536098
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:1353625	D	RGD:8554872	20251007	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:15492925|PMID:15499549|PMID:15689447|PMID:15917271|PMID:16015284|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19455595|PMID:19471977|PMID:19740913|PMID:19780792|PMID:19793311|PMID:19807736|PMID:20493745|PMID:21160487|PMID:21293276|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22670143|PMID:22678952|PMID:22867051|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23151060|PMID:23238081|PMID:23583054|PMID:23934111|PMID:24564546|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27599155|PMID:27848944|PMID:28492532|PMID:29100083|PMID:30182498|PMID:30460546|PMID:31175295|PMID:31313283|PMID:31440721|PMID:31487502|PMID:31492455|PMID:31780880|PMID:32005694|PMID:32712949|PMID:33047306|PMID:33436160|PMID:34837432|PMID:35365919
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:1353625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:15492925|PMID:15689447|PMID:15917271|PMID:16199547|PMID:16813600|PMID:17993579|PMID:18063413|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19780792|PMID:19793311|PMID:21318334|PMID:22670135|PMID:22678952|PMID:22872100|PMID:22982301|PMID:23064044|PMID:24564546|PMID:25741868|PMID:25819767|PMID:27599155|PMID:27848944|PMID:28492532|PMID:29264392|PMID:30197081|PMID:30266825|PMID:31031587|PMID:31487502|PMID:31780880|PMID:33436160|PMID:34605059|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:1353625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome | ClinVar Annotator: match by term: FOXG1 disorder	PMID:15492925|PMID:15689447|PMID:15917271|PMID:16199547|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18790821|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19780792|PMID:19793311|PMID:21318334|PMID:22670135|PMID:22678952|PMID:22872100|PMID:22982301|PMID:23064044|PMID:24564546|PMID:25741868|PMID:25819767|PMID:27081548|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29264392|PMID:30197081|PMID:30266825|PMID:31031587|PMID:31487502|PMID:31780880|PMID:33436160|PMID:34605059|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:15492925|PMID:15689447|PMID:15917271|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19740913|PMID:19780792|PMID:19793311|PMID:20493745|PMID:21318334|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23238081|PMID:23583054|PMID:23934111|PMID:24564546|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27081548|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:29264392|PMID:30182498|PMID:30197081|PMID:30266825|PMID:30460546|PMID:31031587|PMID:31175295|PMID:31313283|PMID:31440721|PMID:31487502|PMID:31492455|PMID:31780880|PMID:32005694|PMID:32712949|PMID:33047306|PMID:33436160|PMID:34605059|PMID:34837432|PMID:35365919
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0080436	developmental and epileptic encephalopathy 4		ISO	RGD:1353625	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 4	PMID:25741868
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0080467	developmental and epileptic encephalopathy 2		ISO	RGD:1353625	D	RGD:7240710	20180314	OMIM			
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0080467	developmental and epileptic encephalopathy 2		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CDKL5 disorder | ClinVar Annotator: match by term: CDKL5-related condition | ClinVar Annotator: match by term: CDKL5-related disorder | ClinVar Annotator: match by term: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy 2 | ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 2 | ClinVar Annotator: match by term: INFANTILE SPASM SYNDROME, X-LINKED 2 | ClinVar Annotator: match by term: developmental and epileptic encephalopathy, 2	PMID:16199547|PMID:16611748|PMID:17576681|PMID:17993579|PMID:18414213|PMID:18809835|PMID:19161156|PMID:19362436|PMID:19780792|PMID:19793311|PMID:20397747|PMID:21309761|PMID:21318334|PMID:21765152|PMID:21770923|PMID:22264704|PMID:22670135|PMID:22678952|PMID:22872100|PMID:22922712|PMID:23151060|PMID:23242510|PMID:23262346|PMID:23583054|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27081548|PMID:27290639|PMID:27334371|PMID:27652284|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:28780406|PMID:29095814|PMID:29190809|PMID:29264392|PMID:29420175|PMID:29444904|PMID:29455050|PMID:29655203|PMID:30447183|PMID:30776697|PMID:30898514|PMID:30945278|PMID:31313283|PMID:31440721|PMID:31780880|PMID:31791873|PMID:32139178|PMID:32366967|PMID:32445745|PMID:32718099|PMID:33436160|PMID:33538404|PMID:33989939|PMID:34163418|PMID:34229227|PMID:34837432|PMID:35483386|PMID:35934918|PMID:35980457|PMID:36619507|PMID:37088138|PMID:37250406|PMID:37701975|PMID:38874638|PMID:39541770|PMID:9536098
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0080467	developmental and epileptic encephalopathy 2	severity	ISO	RGD:1353625	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:22678952|REF_RGD_ID:12791015
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1353625	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1059	intellectual disability		ISO	RGD:1353625	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18063413|PMID:19241098|PMID:21318334|PMID:22678952|PMID:22872100|PMID:25741868|PMID:27599155|PMID:28492532|PMID:33436160|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1059	intellectual disability		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:10907	microcephaly		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:21318334|PMID:22872100|PMID:25741868|PMID:27334371|PMID:28492532|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:11832	visual epilepsy		ISO	RGD:1353625	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:22264704
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1206	Rett syndrome		ISO	RGD:1353625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder	PMID:18414213|PMID:22872100|PMID:28492532|PMID:34837432|PMID:38874638
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:12849	autistic disorder		ISO	RGD:1353625	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder	PMID:15492925|PMID:20479760|PMID:21681106|PMID:25741868|PMID:28492532|PMID:29264392|PMID:30208311
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:12849	autistic disorder		ISO	RGD:1353625	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder	PMID:15492925|PMID:20479760|PMID:21681106|PMID:28492532|PMID:29264392|PMID:30208311|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:12849	autistic disorder		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:15492925|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:12849	autistic disorder		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20479760|PMID:28492532|PMID:29264392|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1826	epilepsy		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: seizure	PMID:15689447|PMID:16015284|PMID:18414213|PMID:18790821|PMID:19241098|PMID:19396824|PMID:21318334|PMID:22678952|PMID:22872100|PMID:25657822|PMID:25741868|PMID:27334371|PMID:27779742|PMID:28074849|PMID:28492532|PMID:30266825|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1827	generalized epilepsy		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy | ClinVar Annotator: match by term: epileptic encephalopathy	PMID:25741868
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1909	melanoma		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:1932	Angelman syndrome		ISO	RGD:1353625	D	RGD:9068941	20250109	CTD		CTD Direct Evidence: marker/mechanism	PMID:19241098
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:2234	focal epilepsy		ISO	RGD:1353625	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Focal epilepsy	PMID:25741868
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1353625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Brachycephaly | ClinVar Annotator: match by term: Metopic synostosis	PMID:16330482|PMID:18414213|PMID:18809835|PMID:19362436|PMID:19793311|PMID:20602487|PMID:21770923|PMID:22678952|PMID:22779007|PMID:23236174|PMID:24564546|PMID:25266480|PMID:25657822|PMID:25741868|PMID:26482601|PMID:27081548|PMID:28492532|PMID:28837158|PMID:29190809|PMID:29852413|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:2340	craniosynostosis		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Metopic synostosis	PMID:18414213|PMID:28492532|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:3650	lactic acidosis		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:540	strabismus		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:21318334|PMID:22872100|PMID:25741868|PMID:27334371|PMID:28492532|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:630	genetic disease		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16611748|PMID:18414213|PMID:19793311|PMID:22779007|PMID:22872100|PMID:25741868|PMID:26467025|PMID:27599155|PMID:27770071|PMID:27781031|PMID:28492532|PMID:29264392|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9001325	Rett Syndrome, Atypical		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome	PMID:15492925|PMID:15689447|PMID:15917271|PMID:16199547|PMID:16611748|PMID:16813600|PMID:17993579|PMID:18063413|PMID:18414213|PMID:18809835|PMID:19161156|PMID:19241098|PMID:19253388|PMID:19362436|PMID:19740913|PMID:19780792|PMID:19793311|PMID:20493745|PMID:21318334|PMID:21770923|PMID:22430159|PMID:22670135|PMID:22678952|PMID:22872100|PMID:22982301|PMID:23064044|PMID:23238081|PMID:23583054|PMID:23934111|PMID:24564546|PMID:25657822|PMID:25741868|PMID:25819767|PMID:26271793|PMID:26467025|PMID:26482601|PMID:26993267|PMID:27081548|PMID:27599155|PMID:27770071|PMID:27823948|PMID:27848944|PMID:28492532|PMID:29100083|PMID:29264392|PMID:30182498|PMID:30197081|PMID:30266825|PMID:30460546|PMID:31031587|PMID:31175295|PMID:31313283|PMID:31440721|PMID:31487502|PMID:31492455|PMID:31780880|PMID:32005694|PMID:32712949|PMID:33047306|PMID:33436160|PMID:34605059|PMID:34837432|PMID:35365919
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9003507	Premature Birth		ISO	RGD:1353625	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353625	D	RGD:9068941	20250724	CTD		CTD Direct Evidence: marker/mechanism	PMID:29942082
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:21318334|PMID:22872100|PMID:25741868|PMID:27334371|PMID:28492532|PMID:32366967|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:18414213|PMID:22872100|PMID:23583054|PMID:28492532|PMID:29455050|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental Delay | ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:18414213|PMID:22872100|PMID:25741868|PMID:28492532|PMID:32366967|PMID:34837432|PMID:36937954
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1353625	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:18414213|PMID:28492532|PMID:34837432
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:936	brain disease		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:16199547|PMID:22872100|PMID:25741868|PMID:28492532|PMID:34837432|PMID:35701389
12157326	CDKL5	cyclin dependent kinase like 5	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:1353625	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:32366967
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0050474	Netherton syndrome	severity	ISO	RGD:1607089	D	RGD:9068941	20200609	RGD		protein:decreased expression:epidermis stratum corneum	PMID:16601670|REF_RGD_ID:5508433
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0060260	ptosis		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1607089	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10777718|PMID:10796875|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:12838552|PMID:12972024|PMID:1333717|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15967693|PMID:16061944|PMID:16199547|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22173904|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25084554|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30637984|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32165122|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34586679|PMID:34649574|PMID:35639160|PMID:7475546|PMID:7627184|PMID:7655857|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1607089	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:8544197|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9240741|PMID:9279145|PMID:9295080|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease | ClinVar Annotator: match by term: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO | ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:10079102|PMID:10744424|PMID:10796875|PMID:11025794|PMID:11903352|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12694238|PMID:12734541|PMID:12791040|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:15967693|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18160183|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227325|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23225227|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:29980418|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:33601107|PMID:34649574|PMID:34779914|PMID:35332438|PMID:35455941|PMID:35604467|PMID:35861376|PMID:37312046|PMID:37750340|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8774051|PMID:8829654|PMID:8889578|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0060892	late onset Parkinson's disease	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0080204	renal hypoplasia		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1607089	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism	PMID:10079102|PMID:10649495|PMID:10714667|PMID:10796875|PMID:11336129|PMID:11903352|PMID:12595585|PMID:12791040|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15967693|PMID:16293621|PMID:16967369|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18541817|PMID:1864608|PMID:18987351|PMID:1899336|PMID:19286695|PMID:1972019|PMID:20004703|PMID:20301446|PMID:20816920|PMID:20947659|PMID:21106416|PMID:21228398|PMID:21472771|PMID:21700212|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22451204|PMID:22623374|PMID:22713811|PMID:22820396|PMID:22975760|PMID:23035075|PMID:2309702|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23676350|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24522292|PMID:2464926|PMID:25249066|PMID:25333069|PMID:25535748|PMID:2569551|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27312774|PMID:27717005|PMID:27865684|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:2880291|PMID:28894968|PMID:28947706|PMID:28969384|PMID:29029963|PMID:29471591|PMID:29487000|PMID:29602947|PMID:29625627|PMID:29934114|PMID:29980418|PMID:30146349|PMID:30285649|PMID:30302829|PMID:30456712|PMID:30548430|PMID:30606667|PMID:30662625|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31216804|PMID:31561936|PMID:32014045|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33402667|PMID:33473340|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34275192|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8929950|PMID:9375849
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0080855	Parkinsonism		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Parkinsonian disorder | ClinVar Annotator: match by term: Parkinsonism	PMID:10079102|PMID:10796875|PMID:11025794|PMID:11903352|PMID:12482401|PMID:12595585|PMID:12791040|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:15967693|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18160183|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227325|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23225227|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:29980418|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35455941|PMID:35604467|PMID:37312046|PMID:37750340|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0080855	Parkinsonism	severity	ISO	RGD:1607089	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:multiple (human)	PMID:20838799|REF_RGD_ID:5508426
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110957	Gaucher's disease type I		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE I | ClinVar Annotator: match by term: Gaucher disease type I | ClinVar Annotator: match by term: Gaucher disease, noncerebral juvenile | ClinVar Annotator: match by term: Gaucher disease, type 1	PMID:10079102|PMID:10649495|PMID:10757640|PMID:10796875|PMID:11025794|PMID:11933202|PMID:12204005|PMID:12482401|PMID:12595585|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15954102|PMID:16086325|PMID:16293621|PMID:16981045|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19459886|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20432762|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22493294|PMID:22577228|PMID:22592100|PMID:22623374|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23426826|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25518742|PMID:25558695|PMID:25653295|PMID:25732996|PMID:25741868|PMID:25946768|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27632223|PMID:27735925|PMID:27789132|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28030538|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29530815|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31216804|PMID:31943857|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34073924|PMID:34134921|PMID:34426522|PMID:34779914|PMID:34867278|PMID:35455941|PMID:35495172|PMID:35639160|PMID:35845720|PMID:35861376|PMID:36609826|PMID:37009750|PMID:37198191|PMID:37750340|PMID:38053927|PMID:38191580|PMID:38509388|PMID:38527843|PMID:7655857|PMID:8081401|PMID:8160756|PMID:8294487|PMID:8432537|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110957	Gaucher's disease type I	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110958	Gaucher's disease type II		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute cerebral Gaucher disease | ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE II | ClinVar Annotator: match by term: Gaucher disease type II | ClinVar Annotator: match by term: Gaucher disease, acute neuronopathic type	PMID:10079102|PMID:10649495|PMID:10796875|PMID:11025794|PMID:11903352|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12791040|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15954102|PMID:15967693|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18160183|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19459886|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227325|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23225227|PMID:23277556|PMID:23426826|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26709268|PMID:26743617|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:29980418|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35455941|PMID:35604467|PMID:35845720|PMID:35861376|PMID:36609826|PMID:37009750|PMID:37312046|PMID:37750340|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110958	Gaucher's disease type II	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110959	Gaucher's disease type III		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE III | ClinVar Annotator: match by term: Gaucher Disease, Type 3 | ClinVar Annotator: match by term: Gaucher disease type III | ClinVar Annotator: match by term: Gaucher disease, subacute neuronopathic type	PMID:10079102|PMID:10636167|PMID:10649495|PMID:10796875|PMID:11025794|PMID:11148530|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12838552|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15954102|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18586596|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19459886|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23426826|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34779914|PMID:35455941|PMID:35845720|PMID:35861376|PMID:36609826|PMID:37009750|PMID:38053927|PMID:38191580|PMID:7475546|PMID:7627184|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8544197|PMID:8829654|PMID:9040001|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110959	Gaucher's disease type III	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110960	Gaucher's disease perinatal lethal		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GAUCHER DISEASE, PERINATAL LETHAL | ClinVar Annotator: match by term: Gaucher disease collodion type | ClinVar Annotator: match by term: Gaucher disease perinatal lethal	PMID:10079102|PMID:10649495|PMID:10796875|PMID:11025794|PMID:11903352|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12791040|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15954102|PMID:15967693|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18160183|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19459886|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227325|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23225227|PMID:23277556|PMID:23426826|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26709268|PMID:26743617|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:29980418|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35455941|PMID:35604467|PMID:35845720|PMID:35861376|PMID:36609826|PMID:37009750|PMID:37312046|PMID:37750340|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0110960	Gaucher's disease perinatal lethal	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0112250	Gaucher's disease type IIIC		ISO	RGD:1607089	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	PMID:10079102|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10777718|PMID:10796875|PMID:11025794|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11933202|PMID:11992489|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12960218|PMID:1333717|PMID:1348297|PMID:14578207|PMID:14728994|PMID:14757438|PMID:15146461|PMID:15352589|PMID:15605411|PMID:15690354|PMID:15826241|PMID:16061944|PMID:16293621|PMID:16967369|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:18678287|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19394250|PMID:19459886|PMID:19513999|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22375149|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:2269438|PMID:22713811|PMID:22812582|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23426826|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24756352|PMID:2502917|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26043810|PMID:26096741|PMID:26296077|PMID:26467025|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27825739|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31026225|PMID:31077260|PMID:31130284|PMID:31130326|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33334373|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:35455941|PMID:35639160|PMID:35845720|PMID:36092251|PMID:36609826|PMID:37009750|PMID:38191580|PMID:7475546|PMID:7627184|PMID:7789963|PMID:7981693|PMID:8118463|PMID:8160756|PMID:8213821|PMID:8294487|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8544197|PMID:8733893|PMID:8790604|PMID:8889578|PMID:8929950|PMID:9040001|PMID:9153297|PMID:9279145|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0112250	Gaucher's disease type IIIC		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GAUCHER DISEASE, TYPE IIIC | ClinVar Annotator: match by term: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	PMID:10079102|PMID:10649495|PMID:10796875|PMID:11025794|PMID:12204005|PMID:12482401|PMID:12595585|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15954102|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19459886|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23426826|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26847548|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34779914|PMID:35455941|PMID:35845720|PMID:35861376|PMID:36609826|PMID:37009750|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:0112250	Gaucher's disease type IIIC	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:10763	hypertension		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertension	PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29842932|PMID:29980418|PMID:31010158|PMID:31996268|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35604467|PMID:37312046|PMID:37750340
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:10907	microcephaly		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:12595585|PMID:15146461|PMID:16086325|PMID:17395504|PMID:17427031|PMID:20004867|PMID:20729108|PMID:21056933|PMID:22387070|PMID:24022302|PMID:25741868|PMID:26709268|PMID:26743617|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28727984|PMID:30382391|PMID:30497978|PMID:32677286|PMID:33176831|PMID:34779914|PMID:35861376|PMID:8829654
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1148	polydactyly		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29842932|PMID:29980418|PMID:31010158|PMID:31996268|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35604467|PMID:37312046|PMID:37750340
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:12217	Lewy body dementia		ISO	RGD:1607089	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia	PMID:10079102|PMID:10352942|PMID:10466427|PMID:10636167|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:11025794|PMID:11148530|PMID:11259172|PMID:11336129|PMID:11359469|PMID:11783951|PMID:11903352|PMID:11933202|PMID:11992489|PMID:12204005|PMID:12482401|PMID:12587096|PMID:12595585|PMID:12838552|PMID:12960218|PMID:12972024|PMID:1301953|PMID:1333717|PMID:1348297|PMID:1415223|PMID:14578207|PMID:14757438|PMID:1487244|PMID:15146461|PMID:15276648|PMID:15352589|PMID:1558964|PMID:15605411|PMID:15826241|PMID:1589760|PMID:15954102|PMID:15967693|PMID:16061944|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16199547|PMID:16293621|PMID:16967369|PMID:16981045|PMID:1704891|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17620502|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18541817|PMID:18586596|PMID:1864608|PMID:18678287|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1972019|PMID:1974409|PMID:19816973|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20301446|PMID:20425034|PMID:20432762|PMID:20629126|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20846888|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21837367|PMID:21856586|PMID:21982627|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22234757|PMID:22344629|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22526844|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23079555|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23430873|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23757202|PMID:2378352|PMID:23811968|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24219755|PMID:24278166|PMID:24434810|PMID:24482953|PMID:24522292|PMID:2464926|PMID:24685312|PMID:24756352|PMID:24904648|PMID:2502917|PMID:2508065|PMID:25127542|PMID:25168325|PMID:25249066|PMID:25287185|PMID:25326392|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25653295|PMID:2569551|PMID:25732996|PMID:25741868|PMID:25933391|PMID:25946768|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26467025|PMID:26689913|PMID:26709268|PMID:26743617|PMID:26792850|PMID:26868973|PMID:26905200|PMID:26995357|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27571329|PMID:27632223|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28030538|PMID:28034821|PMID:28399184|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29920646|PMID:29934114|PMID:30126557|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31026225|PMID:31130284
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:12217	Lewy body dementia		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lewy Body Disease | ClinVar Annotator: match by term: Lewy body dementia	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12204005|PMID:12482401|PMID:12595585|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34779914|PMID:35455941|PMID:35861376|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:12217	Lewy body dementia	susceptibility	ISO	RGD:1607089	D	RGD:7240710	20260812	OMIM			
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1307	dementia		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dementia	PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29842932|PMID:29980418|PMID:31010158|PMID:31996268|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35604467|PMID:37312046|PMID:37750340
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1607089	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Parkinson Disease, Recessive | ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease	PMID:10649495|PMID:10685993|PMID:10714667|PMID:10796875|PMID:11336129|PMID:12482401|PMID:12587096|PMID:1348297|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15352589|PMID:15605411|PMID:15826241|PMID:16293621|PMID:16967369|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17620502|PMID:17875915|PMID:18022370|PMID:18332251|PMID:18338393|PMID:18347322|PMID:18434642|PMID:18541817|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19394250|PMID:1971142|PMID:1972019|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20301446|PMID:20643691|PMID:20662857|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21384230|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21745757|PMID:21856586|PMID:22006919|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22375149|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22713811|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:2309702|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23430543|PMID:23448517|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:2378352|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24434810|PMID:24522292|PMID:2464926|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25435509|PMID:25456120|PMID:25525159|PMID:25535748|PMID:25653295|PMID:2569551|PMID:25741868|PMID:26096741|PMID:26296077|PMID:26467025|PMID:26792850|PMID:26868973|PMID:26905200|PMID:27014572|PMID:27094865|PMID:27123474|PMID:27123476|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27717005|PMID:27735925|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28492532|PMID:28546865|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29029963|PMID:29091352|PMID:29140481|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625627|PMID:29842932|PMID:29934114|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30364808|PMID:30456712|PMID:30487145|PMID:30528841|PMID:30548430|PMID:30606667|PMID:30609409|PMID:30662625|PMID:30764785|PMID:30941926|PMID:31010158|PMID:31130284|PMID:31188768|PMID:31216804|PMID:31561936|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32618053|PMID:32658388|PMID:32714263|PMID:32883051|PMID:33083013|PMID:33176831|PMID:33223529|PMID:33281709|PMID:33402667|PMID:33473340|PMID:3353383|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34073924|PMID:34134921|PMID:34275192|PMID:7789963|PMID:7981693|PMID:8160756|PMID:8294487|PMID:8450045|PMID:8487270|PMID:8516282|PMID:8929950|PMID:9375849|PMID:9516376|PMID:9554746|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:14330	Parkinson's disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Parkinson disease | ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease	PMID:10079102|PMID:10796875|PMID:11025794|PMID:11903352|PMID:12204005|PMID:12482401|PMID:12595585|PMID:12791040|PMID:1301953|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15276648|PMID:15605411|PMID:15826241|PMID:15954102|PMID:15967693|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17689991|PMID:17875915|PMID:18160183|PMID:18332251|PMID:18338393|PMID:1840477|PMID:18429048|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:21831682|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227325|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23225227|PMID:23277556|PMID:23430543|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26000814|PMID:26096741|PMID:26117366|PMID:26296077|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27802905|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29685539|PMID:29842932|PMID:29920646|PMID:29980418|PMID:30023299|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30537300|PMID:30606667|PMID:30609409|PMID:30764785|PMID:30949558|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32165122|PMID:32547927|PMID:32618053|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:33601107|PMID:34649574|PMID:34779914|PMID:35332438|PMID:35455941|PMID:35604467|PMID:35861376|PMID:37312046|PMID:37750340|PMID:38053927|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:14330	Parkinson's disease	no_association	ISO	RGD:1607089	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds:p.K-26R, p.K186R, p.N370S (human)	PMID:19945510|REF_RGD_ID:5508429
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1607089	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.N370S (human)	PMID:20528910|REF_RGD_ID:5508427
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:14766	renal agenesis		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Renal agenesis	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:12595585|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16086325|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34779914|PMID:35455941|PMID:35861376|PMID:38191580|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1826	epilepsy		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:12595585|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16086325|PMID:16293621|PMID:17059888|PMID:17395504|PMID:17427031|PMID:17574891|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004867|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22387070|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:24904648|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26709268|PMID:26743617|PMID:26868973|PMID:26905200|PMID:27027900|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28506293|PMID:28727984|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28947706|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30382391|PMID:30487145|PMID:30497978|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32547927|PMID:32658388|PMID:32677286|PMID:32714263|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:34779914|PMID:35455941|PMID:35861376|PMID:38191580|PMID:7655857|PMID:8160756|PMID:8294487|PMID:8829654|PMID:9153297|PMID:9295080|PMID:9556036|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1891	optic nerve disease		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher Disease | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis	PMID:10079102|PMID:10206680|PMID:10352942|PMID:10360404|PMID:10447266|PMID:10649495|PMID:10685993|PMID:10714667|PMID:10744424|PMID:10757640|PMID:10777718|PMID:10796875|PMID:10950936|PMID:11025794|PMID:11243731|PMID:11259172|PMID:11336129|PMID:11406344|PMID:11600137|PMID:11708865|PMID:11783951|PMID:11903352|PMID:11933202|PMID:12000368|PMID:12204005|PMID:12482401|PMID:12522789|PMID:12587096|PMID:12589426|PMID:12595585|PMID:12667990|PMID:12752568|PMID:12791040|PMID:12919144|PMID:12972024|PMID:1301953|PMID:1348297|PMID:14509164|PMID:14578207|PMID:14728994|PMID:14757438|PMID:1487244|PMID:14994233|PMID:15146461|PMID:15214004|PMID:15234332|PMID:15276648|PMID:15329082|PMID:15352589|PMID:15605411|PMID:15690354|PMID:15826241|PMID:15857183|PMID:15916907|PMID:15943874|PMID:15954102|PMID:15967693|PMID:16086325|PMID:16185900|PMID:16185907|PMID:16293621|PMID:16326120|PMID:16546416|PMID:16790605|PMID:16967369|PMID:17059888|PMID:17196853|PMID:17363227|PMID:17395504|PMID:17427031|PMID:17464953|PMID:17560820|PMID:17574891|PMID:17576681|PMID:17682016|PMID:17689991|PMID:17803231|PMID:17875915|PMID:18030725|PMID:18078074|PMID:18160183|PMID:18160322|PMID:18332251|PMID:18338393|PMID:18347322|PMID:1840477|PMID:18429048|PMID:18434642|PMID:18562733|PMID:18586596|PMID:1864608|PMID:1897529|PMID:18979180|PMID:18987351|PMID:1899336|PMID:19029690|PMID:19167250|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19383421|PMID:19394250|PMID:19433657|PMID:19459886|PMID:19513999|PMID:19527940|PMID:1961718|PMID:1971142|PMID:1974409|PMID:19790257|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20004703|PMID:20004867|PMID:20005137|PMID:20131388|PMID:20301446|PMID:20425034|PMID:20629126|PMID:20643691|PMID:20672374|PMID:20729108|PMID:20729110|PMID:20816920|PMID:20837833|PMID:20946052|PMID:20947659|PMID:20978939|PMID:20980259|PMID:20980263|PMID:21056933|PMID:21106416|PMID:2117855|PMID:21228398|PMID:21257328|PMID:21384230|PMID:21431620|PMID:21445609|PMID:21455010|PMID:21472771|PMID:21633851|PMID:21653695|PMID:21700212|PMID:21700325|PMID:21704274|PMID:21742527|PMID:21744338|PMID:21745757|PMID:21779299|PMID:21823541|PMID:21831682|PMID:21837367|PMID:21856586|PMID:21883686|PMID:21889374|PMID:21982627|PMID:22006919|PMID:22133539|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22227073|PMID:22227325|PMID:22247978|PMID:22344629|PMID:22350617|PMID:22375149|PMID:22387070|PMID:22388998|PMID:22429443|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22658918|PMID:2269438|PMID:22713811|PMID:22791670|PMID:22812582|PMID:22935721|PMID:22961873|PMID:22964618|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23056756|PMID:23079555|PMID:2309702|PMID:23212518|PMID:23225227|PMID:23227814|PMID:23277556|PMID:23286447|PMID:23332636|PMID:23386328|PMID:23426826|PMID:23430543|PMID:2349952|PMID:23508695|PMID:23588557|PMID:23635853|PMID:23642305|PMID:23676350|PMID:23699752|PMID:23719189|PMID:23749476|PMID:23754899|PMID:23765538|PMID:23783781|PMID:23811968|PMID:23935976|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24095219|PMID:24126159|PMID:24195576|PMID:24219755|PMID:24278166|PMID:24313877|PMID:24434810|PMID:24513544|PMID:24522292|PMID:24685312|PMID:24756352|PMID:24904648|PMID:24920659|PMID:2502917|PMID:25056340|PMID:2508065|PMID:25168325|PMID:25249066|PMID:25326392|PMID:25333069|PMID:25344605|PMID:25356393|PMID:25435509|PMID:25456120|PMID:25482214|PMID:25515322|PMID:25525159|PMID:25535748|PMID:25558695|PMID:25637381|PMID:25653295|PMID:2569551|PMID:25741868|PMID:25829804|PMID:25909086|PMID:25933391|PMID:25946768|PMID:26000814|PMID:26008600|PMID:26018676|PMID:26043810|PMID:26051481|PMID:26096741|PMID:26100396|PMID:26117366|PMID:26142329|PMID:26296077|PMID:26316492|PMID:26327947|PMID:26709268|PMID:26743617|PMID:26756743|PMID:26792850|PMID:26847548|PMID:26868973|PMID:26905200|PMID:26995357|PMID:27001828|PMID:27007895|PMID:27008195|PMID:27008851|PMID:27014572|PMID:27027900|PMID:27094865|PMID:27123474|PMID:27153395|PMID:27222815|PMID:27271787|PMID:27282561|PMID:27312774|PMID:27334896|PMID:27393345|PMID:27470603
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher Disease | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis	PMID:27571329|PMID:27682613|PMID:27717005|PMID:27735925|PMID:27790088|PMID:27802905|PMID:27816428|PMID:27825739|PMID:27836528|PMID:27856178|PMID:27865684|PMID:27872820|PMID:27896091|PMID:28003644|PMID:28030538|PMID:28034821|PMID:28185830|PMID:28399184|PMID:28492532|PMID:28506293|PMID:28546865|PMID:28580830|PMID:28686011|PMID:28727984|PMID:28779532|PMID:2880291|PMID:28834018|PMID:28851512|PMID:28871878|PMID:28894968|PMID:28923368|PMID:28947706|PMID:28966932|PMID:28969384|PMID:29023809|PMID:29029963|PMID:29095814|PMID:29140481|PMID:29396846|PMID:29423829|PMID:29431110|PMID:29471591|PMID:29487000|PMID:29527153|PMID:29602947|PMID:29625052|PMID:29625627|PMID:29656334|PMID:29685539|PMID:29784561|PMID:29842932|PMID:29920646|PMID:29934114|PMID:29980418|PMID:30023299|PMID:30115580|PMID:30146349|PMID:30169122|PMID:30216542|PMID:30285649|PMID:30302829|PMID:30328501|PMID:30364808|PMID:30382391|PMID:30456712|PMID:30461613|PMID:30487145|PMID:30497978|PMID:30528172|PMID:30528841|PMID:30537300|PMID:30548430|PMID:30573413|PMID:30606667|PMID:30609409|PMID:30633777|PMID:30637984|PMID:30662625|PMID:30744043|PMID:30764785|PMID:30941926|PMID:30949558|PMID:31010158|PMID:31019026|PMID:31077260|PMID:31130284|PMID:31188768|PMID:31193028|PMID:31216804|PMID:31256856|PMID:31529381|PMID:31561936|PMID:31662221|PMID:31707742|PMID:31719137|PMID:31774256|PMID:31799121|PMID:3180993|PMID:31816052|PMID:31822786|PMID:31996268|PMID:32014045|PMID:32035846|PMID:32042592|PMID:32126008|PMID:32165122|PMID:32197197|PMID:32547927|PMID:32589593|PMID:32613234|PMID:32618053|PMID:32623306|PMID:32658388|PMID:32677286|PMID:32702516|PMID:32707456|PMID:32708003|PMID:32714263|PMID:32740907|PMID:32778766|PMID:32866938|PMID:32883051|PMID:32888397|PMID:32985097|PMID:33083013|PMID:33114153|PMID:33176831|PMID:33209983|PMID:33223529|PMID:33277783|PMID:33281709|PMID:33301762|PMID:33334373|PMID:33402667|PMID:33473340|PMID:33486419|PMID:3353383|PMID:33547828|PMID:33570220|PMID:33583590|PMID:33601107|PMID:33606887|PMID:33609962|PMID:33763395|PMID:33897756|PMID:33977031|PMID:34017912|PMID:34072005|PMID:34072542|PMID:34073924|PMID:34134921|PMID:34275192|PMID:34275908|PMID:34280392|PMID:34282371|PMID:34310471|PMID:34426522|PMID:34440436|PMID:34645491|PMID:34649574|PMID:34710740|PMID:34779914|PMID:34820281|PMID:34867278|PMID:34888859|PMID:34897099|PMID:34930372|PMID:34991910|PMID:34992599|PMID:35163551|PMID:35242582|PMID:35262230|PMID:35332438|PMID:35455941|PMID:35521899|PMID:35604467|PMID:35606495|PMID:35614200|PMID:35639160|PMID:35747619|PMID:35810474|PMID:35845720|PMID:35861376|PMID:35893043|PMID:35906014|PMID:36034301|PMID:36092251|PMID:36101816|PMID:36130205|PMID:36150414|PMID:36307859|PMID:36506070|PMID:36609826|PMID:36637080|PMID:36683633|PMID:36720445|PMID:36735655|PMID:36776904|PMID:36845659|PMID:36879366|PMID:37009750|PMID:37027993|PMID:37198191|PMID:37238417|PMID:37240189|PMID:37249220|PMID:37256495|PMID:37301871|PMID:37312046|PMID:37328863|PMID:37453004|PMID:37658046|PMID:37685353|PMID:37750340|PMID:37833892|PMID:37879897|PMID:37926171|PMID:37948831|PMID:37996455|PMID:38053927|PMID:38167091|PMID:38177146|PMID:38191580|PMID:38402011|PMID:38474117|PMID:38509388|PMID:38527843|PMID:38535124|PMID:38553911|PMID:38667330|PMID:38843618|PMID:38930117|PMID:39006867|PMID:39051491|PMID:39062556|PMID:39183396|PMID:39189706|PMID:39827430|PMID:39927608|PMID:40542290|PMID:40848607|PMID:41032223|PMID:7059888|PMID:7500895|PMID:7627184|PMID:7655857|PMID:7694727|PMID:7789963|PMID:7916532|PMID:7981693|PMID:8112750|PMID:8160756|PMID:8213821|PMID:8257989|PMID:8268935|PMID:8280613|PMID:8294487|PMID:84325327|PMID:8432537|PMID:8450045|PMID:8487270|PMID:8547070|PMID:8607360|PMID:8733893|PMID:8774051|PMID:8790604|PMID:8829654|PMID:8829663|PMID:8889578|PMID:8929950|PMID:8937765|PMID:9061570|PMID:9153297|PMID:9182788|PMID:9215746|PMID:9217217|PMID:9240741|PMID:9295080|PMID:9375849|PMID:9497856|PMID:9516376|PMID:9536098|PMID:9554454|PMID:9554746|PMID:9556036|PMID:9650766|PMID:9683600|PMID:9723584|PMID:9851895
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1926	Gaucher's disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acid beta-glucosidase deficiency | ClinVar Annotator: match by term: Gaucher Disease | ClinVar Annotator: match by term: Gaucher disease | ClinVar Annotator: match by term: Kerasin thesaurismosis	PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:1969	cerebral palsy		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:4362	cervical cancer		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:480	movement disease		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1607089	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12359135
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:8893	psoriasis		ISO	RGD:1607089	D	RGD:9068941	20200609	RGD			PMID:15610510|REF_RGD_ID:5508434
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9000495	Tremor		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: tremors	PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29842932|PMID:29980418|PMID:31010158|PMID:31996268|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35604467|PMID:37312046|PMID:37750340
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9001109	Anorexia		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: anorexia	PMID:1487244|PMID:16293621|PMID:23426826|PMID:24522292|PMID:25741868|PMID:27735925|PMID:27865684|PMID:28492532|PMID:28727984|PMID:29140481|PMID:30637984|PMID:30764785|PMID:34649574
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9001480	Muscle Rigidity		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cogwheel rigidity	PMID:10079102|PMID:11903352|PMID:12595585|PMID:12791040|PMID:15146461|PMID:15967693|PMID:16293621|PMID:18160183|PMID:1864608|PMID:20301446|PMID:20947659|PMID:21831682|PMID:22227325|PMID:22451204|PMID:22623374|PMID:23225227|PMID:24022302|PMID:24033266|PMID:25741868|PMID:26000814|PMID:26117366|PMID:26296077|PMID:27153395|PMID:27312774|PMID:28492532|PMID:29842932|PMID:29980418|PMID:31010158|PMID:31996268|PMID:32618053|PMID:32658388|PMID:32714263|PMID:33601107|PMID:34779914|PMID:35332438|PMID:35604467|PMID:37312046|PMID:37750340
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1607089	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:10796875|PMID:16293621|PMID:17059888|PMID:17574891|PMID:20729108|PMID:24904648|PMID:25741868|PMID:27027900|PMID:28506293|PMID:28727984|PMID:28947706|PMID:29625627|PMID:32547927|PMID:33176831|PMID:7655857|PMID:9153297|PMID:9295080|PMID:9683600|PMID:9856561
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9005372	Inflammation		ISO	RGD:1623310	D	RGD:9068941	20200609	RGD			PMID:11994410|REF_RGD_ID:5508435
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1607089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:12595585|PMID:15146461|PMID:16086325|PMID:17395504|PMID:17427031|PMID:20004867|PMID:20729108|PMID:21056933|PMID:22387070|PMID:24022302|PMID:25741868|PMID:26709268|PMID:26743617|PMID:27856178|PMID:27865684|PMID:27872820|PMID:28492532|PMID:28727984|PMID:30382391|PMID:30497978|PMID:32677286|PMID:33176831|PMID:34779914|PMID:35861376|PMID:8829654
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1607089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis	PMID:1487244|PMID:16293621|PMID:24522292|PMID:27735925
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:936	brain disease		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157353	GBA1	glucosylceramidase beta 1	gene	DOID:9834	hyperopia		ISO	RGD:1607089	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:10079102|PMID:10796875|PMID:11025794|PMID:12482401|PMID:14578207|PMID:14757438|PMID:15146461|PMID:15605411|PMID:15826241|PMID:16293621|PMID:17395504|PMID:17427031|PMID:17875915|PMID:18332251|PMID:18338393|PMID:18434642|PMID:1864608|PMID:18979180|PMID:18987351|PMID:19217815|PMID:19260119|PMID:19286695|PMID:19830760|PMID:19846850|PMID:19945510|PMID:20301446|PMID:20643691|PMID:20672374|PMID:20816920|PMID:20837833|PMID:20947659|PMID:20980259|PMID:20980263|PMID:21228398|PMID:21431620|PMID:21472771|PMID:21653695|PMID:21700325|PMID:21742527|PMID:21745757|PMID:22160715|PMID:22192918|PMID:22220748|PMID:22388998|PMID:22451204|PMID:22592100|PMID:22623374|PMID:22935721|PMID:22961873|PMID:22968580|PMID:22975760|PMID:22995991|PMID:23277556|PMID:23588557|PMID:23642305|PMID:23676350|PMID:24020503|PMID:24022302|PMID:24033266|PMID:24195576|PMID:24434810|PMID:24756352|PMID:25168325|PMID:25249066|PMID:25333069|PMID:25456120|PMID:25558695|PMID:25653295|PMID:25741868|PMID:26096741|PMID:26868973|PMID:26905200|PMID:27094865|PMID:27153395|PMID:27271787|PMID:27312774|PMID:27393345|PMID:27735925|PMID:27872820|PMID:28492532|PMID:28779532|PMID:28834018|PMID:28923368|PMID:28966932|PMID:29029963|PMID:29140481|PMID:29431110|PMID:29487000|PMID:29527153|PMID:29625627|PMID:29842932|PMID:29920646|PMID:30146349|PMID:30216542|PMID:30302829|PMID:30364808|PMID:30487145|PMID:30528841|PMID:30606667|PMID:30609409|PMID:31010158|PMID:31188768|PMID:31996268|PMID:32042592|PMID:32658388|PMID:32714263|PMID:33209983|PMID:33223529|PMID:33281709|PMID:33473340|PMID:3353383|PMID:35455941|PMID:38191580|PMID:8160756|PMID:8294487|PMID:9556036
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:1115	sarcoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:1324	lung cancer		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:3275	thymoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:4362	cervical cancer		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1345687	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157368	FBXL20	F-box and leucine rich repeat protein 20	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345687	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157402	ZNF446	zinc finger protein 446	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157402	ZNF446	zinc finger protein 446	gene	DOID:3070	high grade glioma		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12157402	ZNF446	zinc finger protein 446	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12157402	ZNF446	zinc finger protein 446	gene	DOID:5041	esophageal cancer		ISO	RGD:1351503	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157402	ZNF446	zinc finger protein 446	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157402	ZNF446	zinc finger protein 446	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157402	ZNF446	zinc finger protein 446	gene	DOID:9002189	High Myopia		ISO	RGD:1351503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12157402	ZNF446	zinc finger protein 446	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157402	ZNF446	zinc finger protein 446	gene	DOID:9007661	Dwarfism		ISO	RGD:1351503	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12157402	ZNF446	zinc finger protein 446	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:1324	lung cancer		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:1909	melanoma		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:4362	cervical cancer		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157451	PSMA7	proteasome 20S subunit alpha 7	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737158	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0060058	lymphoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0060794	hypomyelinating leukodystrophy 7		ISO	RGD:1353080	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ATAXIA, DELAYED DENTITION, AND HYPOMYELINATION	PMID:24039609|PMID:25326637
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0070608	autosomal dominant nonsyndromic deafness 81		ISO	RGD:1353080	D	RGD:7240710	20210908	OMIM			
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0070608	autosomal dominant nonsyndromic deafness 81		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal dominant 81 | ClinVar Annotator: match by term: ELMOD3-related condition	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0110533	autosomal recessive nonsyndromic deafness 88		ISO	RGD:1353080	D	RGD:7240710	20180130	OMIM			
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:0110533	autosomal recessive nonsyndromic deafness 88		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 88	PMID:25741868|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1353080	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:1909	melanoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:3070	high grade glioma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:4362	cervical cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353080	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:9004538	Hearing Loss		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:26467025|PMID:28492532
12157461	ELMOD3	ELMO domain containing 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1353080	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12157478	RPL29	ribosomal protein L29	gene	DOID:0060058	lymphoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12157478	RPL29	ribosomal protein L29	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157478	RPL29	ribosomal protein L29	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157478	RPL29	ribosomal protein L29	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737093	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157486	NXT1	nuclear transport factor 2 like export factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1319614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157486	NXT1	nuclear transport factor 2 like export factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319614	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:10283	prostate cancer		ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:prostate gland (human)	PMID:24200674|REF_RGD_ID:9587761
12157496	KDM5A	lysine demethylase 5A	gene	DOID:10534	stomach cancer		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:1059	intellectual disability		ISO	RGD:1313452	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound | ClinVar Annotator: match by term: Severe intellectual disability	PMID:25741868|PMID:33350388
12157496	KDM5A	lysine demethylase 5A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:1115	sarcoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:11383	cryptorchidism		ISO	RGD:1305429	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testes (rat)	PMID:24679876|REF_RGD_ID:9588526
12157496	KDM5A	lysine demethylase 5A	gene	DOID:12849	autistic disorder		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12157496	KDM5A	lysine demethylase 5A	gene	DOID:13620	patent foramen ovale		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect, ostium secundum type	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:1612	breast cancer	severity	ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:breast (human)	PMID:23266085|REF_RGD_ID:9586731
12157496	KDM5A	lysine demethylase 5A	gene	DOID:1657	ventricular septal defect		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:1909	melanoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:3070	high grade glioma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (human)	PMID:25162518|REF_RGD_ID:9588530
12157496	KDM5A	lysine demethylase 5A	gene	DOID:5041	esophageal cancer		ISO	RGD:1313452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:5517	stomach carcinoma		ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach (human)	PMID:23794145|REF_RGD_ID:9588529
12157496	KDM5A	lysine demethylase 5A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		DNA:snps:intron:IVST>A, IVS-1467C>T, IVS+828T>C (rs7134353, rs2284336, rs11062357) (human)	PMID:24069348|REF_RGD_ID:9588532
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9006059	EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1313452	D	RGD:7240710	20240612	OMIM			
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9006059	EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME		ISO	RGD:1313452	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME | ClinVar Annotator: match by term: El Hayek-Chahrour neurodevelopmental disorder | ClinVar Annotator: match by term: KDM5A-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33350388|PMID:3350388|PMID:39374907
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9007817	Macroglossia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macroglossia	PMID:25741868
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157496	KDM5A	lysine demethylase 5A	gene	DOID:986	alopecia areata		ISO	RGD:1313452	D	RGD:9068941	20200609	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:21936853|REF_RGD_ID:9587460
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:7240710	20190315	OMIM			
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:0112080	nuclear type mitochondrial complex I deficiency 32		ISO	RGD:1319298	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 32 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 32 | ClinVar Annotator: match by term: NDUFB8-related condition	PMID:25741868|PMID:28492532|PMID:29429571
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1319298	D	RGD:9068941	20200609	RGD			PMID:14570706|REF_RGD_ID:1358651
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:1324	lung cancer		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:14330	Parkinson's disease		ISO	RGD:1319298	D	RGD:9068941	20200609	RGD			PMID:26605748|REF_RGD_ID:13504667
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:3021	acute kidney failure		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:22160772|REF_RGD_ID:13801199
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:37	skin disease		ISO	RGD:1319298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:630	genetic disease		ISO	RGD:1319298	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9004484	Sepsis		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:22952679|REF_RGD_ID:13801198
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1309129	D	RGD:9068941	20200609	RGD			PMID:24096033|REF_RGD_ID:13801197
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1319299	D	RGD:9068941	20200609	RGD			PMID:22160772|REF_RGD_ID:13801199
12157528	NDUFB8	NADH:ubiquinone oxidoreductase subunit B8	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1319298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12157537	CHMP4C	charged multivesicular body protein 4C	gene	DOID:10534	stomach cancer		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157537	CHMP4C	charged multivesicular body protein 4C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157537	CHMP4C	charged multivesicular body protein 4C	gene	DOID:4362	cervical cancer		ISO	RGD:1606751	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157537	CHMP4C	charged multivesicular body protein 4C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606751	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157537	CHMP4C	charged multivesicular body protein 4C	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1606751	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23535730|PMID:31043753
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:10534	stomach cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:1115	sarcoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:1307	dementia		ISO	RGD:1359099	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus	PMID:20545768|REF_RGD_ID:9685031
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:305	carcinoma		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:3275	thymoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1359099	D	RGD:9068941	20200609	RGD		protein:decreased expression:spinal cord	PMID:20141154|REF_RGD_ID:9685028
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1347618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16316942
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157546	CAPZB	capping actin protein of muscle Z-line subunit beta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347618	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157572	STX8	syntaxin 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157572	STX8	syntaxin 8	gene	DOID:10283	prostate cancer		ISO	RGD:731411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12157572	STX8	syntaxin 8	gene	DOID:10283	prostate cancer		ISO	RGD:731411	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12157572	STX8	syntaxin 8	gene	DOID:1115	sarcoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157572	STX8	syntaxin 8	gene	DOID:1909	melanoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157572	STX8	syntaxin 8	gene	DOID:4362	cervical cancer		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157572	STX8	syntaxin 8	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157572	STX8	syntaxin 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157572	STX8	syntaxin 8	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731411	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0050833	orotic aciduria		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orotic aciduria	PMID:35433176
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:7240710	20200228	OMIM			
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Citrullinemia 1 | ClinVar Annotator: match by term: Citrullinemia type I	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33851512|PMID:36680390|PMID:36685561|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: Citrullinemia type I	PMID:10720040|PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15580409|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20661889|PMID:20724589|PMID:20818742|PMID:20852933|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:21609351|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:3260007|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33617202|PMID:33851512|PMID:35095998|PMID:36680390|PMID:36685561|PMID:37308883|PMID:37443404|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0070340	classic citrullinemia		ISO	RGD:736136	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ASS deficiency | ClinVar Annotator: match by term: ASS1-related disorder | ClinVar Annotator: match by term: CITRULLINEMIA, CLASSIC | ClinVar Annotator: match by term: Citrullinemia type I | ClinVar Annotator: match by term: argininosuccinate synthetase deficiency | ClinVar Annotator: match by term: citrullinemia type I	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15164414|PMID:15266621|PMID:15334737|PMID:15580409|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:16889683|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20301396|PMID:20301631|PMID:20724589|PMID:20818742|PMID:20852933|PMID:21227727|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25326637|PMID:25433810|PMID:25537548|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28468868|PMID:28492532|PMID:29378745|PMID:30030962|PMID:30285816|PMID:30612563|PMID:30626930|PMID:30904546|PMID:31056765|PMID:31208364|PMID:31426867|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:32860008|PMID:33190319|PMID:33617202|PMID:33851512|PMID:35095998|PMID:35281663|PMID:35433176|PMID:35726796|PMID:36246604|PMID:36263152|PMID:36680390|PMID:36685561|PMID:36939041|PMID:37308883|PMID:37443404|PMID:37485339|PMID:37603033|PMID:37906139|PMID:39175751|PMID:39519275|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:0081329	glycogen storage disease I		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glucose-6-phosphatase deficiency	PMID:11708871|PMID:12815590|PMID:16475226|PMID:25741868|PMID:27287393|PMID:28492532|PMID:31469252|PMID:35281663
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:1059	intellectual disability		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:35433176
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736136	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, glial cell (human)	PMID:11556547|REF_RGD_ID:4139898
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:11713	diabetic angiopathy		ISO	RGD:736136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:25033204
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:13141	uveitis		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye (rat)	PMID:12470967|REF_RGD_ID:631755
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:1826	epilepsy		ISO	RGD:736136	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:12815590|PMID:16475226|PMID:23099195|PMID:2358466|PMID:25087612|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:29378745|PMID:30285816|PMID:35433176|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:1909	melanoma		ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:12359751|REF_RGD_ID:4140479
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:2749	glycogen storage disease Ia		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatorenal glycogenosis	PMID:11708871|PMID:12815590|PMID:16475226|PMID:25741868|PMID:27287393|PMID:28492532|PMID:31469252|PMID:35281663
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:409	liver disease		ISO	RGD:736136	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31651977
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:736136	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11708871|PMID:11941481|PMID:12815590|PMID:16421053|PMID:16475226|PMID:18473344|PMID:18925679|PMID:19006241|PMID:19358837|PMID:23430935|PMID:2358466|PMID:25047749|PMID:25433810|PMID:25741868|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:32778825|PMID:36263152|PMID:36680390|PMID:37443404|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18925679|PMID:25047749|PMID:25741868|PMID:28111830|PMID:28492532|PMID:30285816|PMID:31469252|PMID:37443404
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:12359751|REF_RGD_ID:4140479
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736136	D	RGD:9068941	20220616	RGD		associated with tumor vascularization; mRNA,protein:decreased expression:liver tumor (human)	PMID:30901224|REF_RGD_ID:152995286
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver (rat)	PMID:19914391|REF_RGD_ID:4140452
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9002669	Hypoxia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased activity:brain (rat)	PMID:20567615|REF_RGD_ID:4110824
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9002916	Hyperphagia		ISO	RGD:2163	D	RGD:9068941	20251218	RGD		protein:decreased enzyme activity:liver	PMID:4062872|REF_RGD_ID:2300098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004009	Reperfusion Injury	resistance	ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:brain, neuron (rat)	PMID:17198704|REF_RGD_ID:1599263
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:736136	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:2163	D	RGD:9068941	20200609	RGD			PMID:15698416|REF_RGD_ID:1599305
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9004866	Ataxia		ISO	RGD:736136	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:12815590|PMID:16475226|PMID:2358466|PMID:25087612|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:29378745|PMID:30285816|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9005077	Joint Instability		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta (rat)	PMID:11384198|REF_RGD_ID:1599310
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD			PMID:10652239|REF_RGD_ID:1599265
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:20544730|REF_RGD_ID:4140449
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9007480	Hyperoxia		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (rat)	PMID:20805789|REF_RGD_ID:4142785
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:35433176
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9007736	Vertigo		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9007874	Liver Failure		ISO	RGD:2163	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:11779202|REF_RGD_ID:70249
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9008385	Vomiting		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9008617	Lethargy		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:12815590|PMID:14680976|PMID:16124451|PMID:16475226|PMID:2358466|PMID:25537548|PMID:25741868|PMID:26117549|PMID:28111830|PMID:28492532|PMID:30904546|PMID:31056765|PMID:31469252|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736136	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9008972	Hyperammonemia		ISO	RGD:736136	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperammonemia	PMID:12815590|PMID:16475226|PMID:23099195|PMID:2358466|PMID:25087612|PMID:25741868|PMID:27287393|PMID:28111830|PMID:28492532|PMID:29378745|PMID:30285816|PMID:8792870
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30904546|PMID:31056765|PMID:31469252|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinemia, mild | ClinVar Annotator: match by term: Citrullinuria	PMID:10987146|PMID:11211875|PMID:11571557|PMID:11708871|PMID:11738042|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:15266621|PMID:15334737|PMID:15863597|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18666241|PMID:18925679|PMID:19006241|PMID:19358837|PMID:1943692|PMID:19684305|PMID:20005624|PMID:20724589|PMID:20818742|PMID:21227727|PMID:21228398|PMID:21244552|PMID:21483992|PMID:22106832|PMID:2246255|PMID:22473243|PMID:22494545|PMID:22768672|PMID:23094117|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23611581|PMID:23780642|PMID:24033266|PMID:24508627|PMID:24713661|PMID:24765495|PMID:24889030|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:26206375|PMID:27168972|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:31208364|PMID:3146925|PMID:31469252|PMID:31737040|PMID:31980526|PMID:32778825|PMID:33851512|PMID:4680976|PMID:7557970|PMID:7977368|PMID:8792870|PMID:9090528|PMID:934749|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia		ISO	RGD:736136	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Citrullinemia | ClinVar Annotator: match by term: Citrullinuria | ClinVar Annotator: match by term: citrullinemia	PMID:11708871|PMID:11941481|PMID:12684898|PMID:12815590|PMID:14680976|PMID:16124451|PMID:16199547|PMID:16475226|PMID:17576681|PMID:18473344|PMID:18925679|PMID:19006241|PMID:19358837|PMID:20724589|PMID:20852933|PMID:21227727|PMID:21244552|PMID:22494545|PMID:22768672|PMID:22885444|PMID:23099195|PMID:23246278|PMID:23430935|PMID:2358466|PMID:23780642|PMID:24713661|PMID:24765495|PMID:24889030|PMID:24927999|PMID:25047749|PMID:25087612|PMID:25179242|PMID:25433810|PMID:25537548|PMID:25640679|PMID:25741868|PMID:26117549|PMID:2615645|PMID:27287393|PMID:27629047|PMID:28111830|PMID:28132756|PMID:28302489|PMID:28492532|PMID:29378745|PMID:30035404|PMID:30285816|PMID:30612563|PMID:30904546|PMID:31056765|PMID:3146925|PMID:31469252|PMID:32778825|PMID:33190319|PMID:33851512|PMID:35085585|PMID:35281663|PMID:35433176|PMID:35726796|PMID:36263152|PMID:36680390|PMID:37443404|PMID:7977368|PMID:8792870|PMID:9090528|PMID:9536098
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9273	citrullinemia	susceptibility	ISO	RGD:736136	D	RGD:9068941	20200609	RGD			PMID:7557970|REF_RGD_ID:1599301
12157586	ASS1	argininosuccinate synthase 1	gene	DOID:9834	hyperopia		ISO	RGD:736136	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:11941481|PMID:12815590|PMID:14680976|PMID:18473344|PMID:18925679|PMID:23780642|PMID:25741868|PMID:28111830|PMID:28492532
12157606	PLP1	proteolipid protein 1	gene	DOID:0110773	hereditary spastic paraplegia 2		ISO	RGD:732304	D	RGD:7240710	20180130	OMIM			
12157606	PLP1	proteolipid protein 1	gene	DOID:0110773	hereditary spastic paraplegia 2		ISO	RGD:732304	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 2 | ClinVar Annotator: match by term: Spastic paraplegia 2	PMID:10319885|PMID:10417279|PMID:16199547|PMID:16380909|PMID:1720927|PMID:18160035|PMID:18470932|PMID:19328639|PMID:23347225|PMID:24139698|PMID:26786043|PMID:28492532|PMID:31448840|PMID:7539213|PMID:8659540|PMID:9633722|PMID:9634530
12157606	PLP1	proteolipid protein 1	gene	DOID:1826	epilepsy		ISO	RGD:3354	D	RGD:9068941	20241214	RGD			PMID:2479544|REF_RGD_ID:1358781
12157606	PLP1	proteolipid protein 1	gene	DOID:1826	epilepsy		ISO	RGD:3354	D	RGD:9068941	20241214	RGD		sexual dimorphism, males	PMID:434110|REF_RGD_ID:1358782
12157606	PLP1	proteolipid protein 1	gene	DOID:3210	Pelizaeus-Merzbacher disease		IAGP		D	RGD:12801476	20210603	OMIA		Tremor, X-linked	PMID:4652629|PMID:4721939|PMID:343874|PMID:9035971
12157606	PLP1	proteolipid protein 1	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:732304	D	RGD:7240710	20180130	OMIM			
12157606	PLP1	proteolipid protein 1	gene	DOID:3210	Pelizaeus-Merzbacher disease		ISO	RGD:732304	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pelizaeus-Merzbacher disease	PMID:23347225|PMID:8659540
12157606	PLP1	proteolipid protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:732304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21068375
12157606	PLP1	proteolipid protein 1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	treatment	ISO	RGD:1551293	D	RGD:9068941	20201211	RGD			PMID:24941845|REF_RGD_ID:40902822
12157606	PLP1	proteolipid protein 1	gene	DOID:9007553	neurotoxicity	treatment	ISO	RGD:3354	D	RGD:9068941	20230323	RGD			PMID:33166664|REF_RGD_ID:213230154
12157606	PLP1	proteolipid protein 1	gene	DOID:9007752	Chronic Relapsing Experimental Autoimmune Encephalomyelitis		ISO	RGD:732304	D	RGD:9068941	20200618	RGD		human sequence peptide in a mouse model; associated with Herpesviridae infections	PMID:12811845|REF_RGD_ID:30296670
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24633157
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		DNA:mutations:multiple (human)	PMID:24633157|REF_RGD_ID:151361292
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0001816	angiosarcoma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		DNA:mutation:multiple (human)	PMID:26440310|REF_RGD_ID:151665099
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0060108	brain glioma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		human cell in mouse model	PMID:16923162|REF_RGD_ID:151660368
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0060108	brain glioma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		protein:increased expression:brain (human)	PMID:33900414|REF_RGD_ID:151660356
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		associated with metastasis; human cells in mouse model	PMID:31040266|REF_RGD_ID:151361283
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:10534	stomach cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:1115	sarcoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:1115	sarcoma	treatment	ISO	RGD:1314242	D	RGD:9068941	20220303	RGD			PMID:31089155|REF_RGD_ID:151660332
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:1324	lung cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:14400	capillary leak syndrome	treatment	ISO	RGD:1552328	D	RGD:9068941	20220310	RGD		mouse tumor cells in mouse recipient	PMID:31348125|REF_RGD_ID:151660353
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:1909	melanoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3068	glioblastoma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		protein:increased expression:brain (human)	PMID:14692702|PMID:15831233|REF_RGD_ID:151660507|REF_RGD_ID:151664746
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3068	glioblastoma	treatment	ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		human cells in mouse model	PMID:16489031|REF_RGD_ID:151660504
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3275	thymoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3307	teratoma		ISO	RGD:1552328	D	RGD:9068941	20220310	RGD			PMID:23575676|REF_RGD_ID:151660354
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3347	osteosarcoma	disease_progression	ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:bone (human)	PMID:31829261|REF_RGD_ID:151361289
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		protein:decreased expression:blood (human)	PMID:32663515|REF_RGD_ID:151660329
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		human cells in mouse model	PMID:27314562|REF_RGD_ID:151361281
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:lung (human)	PMID:27314562|REF_RGD_ID:151361281
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		mRNA:decreased expression:lung (human)	PMID:7981622|REF_RGD_ID:151665112
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		mRNA:altered expression:lung (human)	PMID:29254206|REF_RGD_ID:151665107
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1314242	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:4362	cervical cancer		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:4511	breast angiosarcoma		ISO	RGD:1314242	D	RGD:9068941	20220310	RGD		DNA:mutation:multiple (human)	PMID:32123305|REF_RGD_ID:151665102
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:1552328	D	RGD:9068941	20220310	RGD			PMID:23899555|REF_RGD_ID:151660352
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9006608	Lung Carcinoid Tumors	severity	ISO	RGD:1314242	D	RGD:9068941	20220303	RGD		mRNA:decreased expression:lung (human)	PMID:25105010|REF_RGD_ID:151660336
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:1552328	D	RGD:9068941	20220310	RGD		mouse tumor cells in mouse recipient	PMID:31348125|REF_RGD_ID:151660353
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314242	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157623	PTPRB	protein tyrosine phosphatase receptor type B	gene	DOID:9009121	lung metastasis	treatment	ISO	RGD:1552328	D	RGD:9068941	20220310	RGD			PMID:23899555|REF_RGD_ID:151660352
12157661	TCF20	transcription factor 20	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12157661	TCF20	transcription factor 20	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:69146	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28492532|PMID:30739909|PMID:30819258
12157661	TCF20	transcription factor 20	gene	DOID:0060249	scoliosis		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:0080354	Phelan-McDermid syndrome		ISO	RGD:1558109	D	RGD:9068941	20220825	MouseDO		OMIM:606232	
12157661	TCF20	transcription factor 20	gene	DOID:1059	intellectual disability		ISO	RGD:69146	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:10892	hypospadias		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:10907	microcephaly		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12157661	TCF20	transcription factor 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157661	TCF20	transcription factor 20	gene	DOID:1115	sarcoma		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157661	TCF20	transcription factor 20	gene	DOID:11830	myopia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12157661	TCF20	transcription factor 20	gene	DOID:12849	autistic disorder		ISO	RGD:69146	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:1657	ventricular septal defect		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:1826	epilepsy		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:1882	atrial heart septal defect		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:2030	anxiety disorder		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12157661	TCF20	transcription factor 20	gene	DOID:3070	high grade glioma		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12157661	TCF20	transcription factor 20	gene	DOID:540	strabismus		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157661	TCF20	transcription factor 20	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12157661	TCF20	transcription factor 20	gene	DOID:630	genetic disease		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31238879
12157661	TCF20	transcription factor 20	gene	DOID:9001031	Retrognathia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9001276	Failure to Thrive		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9001471	Anorectal Malformations		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anorectal anomaly	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69146	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12157661	TCF20	transcription factor 20	gene	DOID:9001581	Constipation		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12157661	TCF20	transcription factor 20	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9002134	Heart Murmurs		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	
12157661	TCF20	transcription factor 20	gene	DOID:9002563	Gait Ataxia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gait ataxia	
12157661	TCF20	transcription factor 20	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9003133	Hypertelorism		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9003279	Joint Dislocations		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	
12157661	TCF20	transcription factor 20	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Herpes simplex encephalitis	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69146	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:30739909
12157661	TCF20	transcription factor 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69146	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:30739909
12157661	TCF20	transcription factor 20	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:69146	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9004538	Hearing Loss		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9004866	Ataxia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9004868	Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities		ISO	RGD:69146	D	RGD:7240710	20190710	OMIM			
12157661	TCF20	transcription factor 20	gene	DOID:9004868	Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities		ISO	RGD:69146	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Developmental delay with variable intellectual impairment and behavioral abnormalities | ClinVar Annotator: match by term: TCF20-related condition | ClinVar Annotator: match by term: developmental delay with variable intellectual impairment and behavioral abnormalities	PMID:22081970|PMID:25228304|PMID:25741868|PMID:27436265|PMID:28135719|PMID:28492532|PMID:30739909|PMID:30819258
12157661	TCF20	transcription factor 20	gene	DOID:9005077	Joint Instability		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12157661	TCF20	transcription factor 20	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9005616	Micrognathism		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9006617	Fatigue		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fatigue	
12157661	TCF20	transcription factor 20	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9007573	Flatfoot		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	
12157661	TCF20	transcription factor 20	gene	DOID:9007661	Dwarfism		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:69146	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9008385	Vomiting		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9008557	Single Umbilical Artery		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Single umbilical artery	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9008582	Developmental Disease		ISO	RGD:69146	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9009021	Plagiocephaly		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9256	colorectal cancer		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12157661	TCF20	transcription factor 20	gene	DOID:936	brain disease		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:25741868
12157661	TCF20	transcription factor 20	gene	DOID:9970	obesity		ISO	RGD:69146	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:25741868
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:10534	stomach cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:1115	sarcoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:1324	lung cancer		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:5041	esophageal cancer		ISO	RGD:1347023	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12157674	CNOT6	CCR4-NOT transcription complex subunit 6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347023	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157695	PIP4P1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157695	PIP4P1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:1115	sarcoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157695	PIP4P1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12157695	PIP4P1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12157695	PIP4P1	phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1316692	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:10534	stomach cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:1059	intellectual disability		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:1793	pancreatic cancer		ISO	RGD:1320131	D	RGD:9068941	20230128	RGD		mRNA, protein:decreased expression:pancreas (human)	PMID:28351319|REF_RGD_ID:155804299
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:4362	cervical cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:4362	cervical cancer	severity	ISO	RGD:1320131	D	RGD:9068941	20230128	RGD		mRNA, protein:increased expression:cervix (human)	PMID:35853859|REF_RGD_ID:155882439
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:7240710	20180130	OMIM			
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:5768	Nager acrofacial dysostosis		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE | ClinVar Annotator: match by term: Acrofacial dysostosis 1, Nager type | ClinVar Annotator: match by term: Nager syndrome | ClinVar Annotator: match by term: SF3B4-related acrofacial dysostosis | ClinVar Annotator: match by term: SF3B4-related condition	PMID:16199547|PMID:22541558|PMID:23568615|PMID:24003905|PMID:25741868|PMID:28492532
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:630	genetic disease		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:674	cleft palate		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1309667	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (rat)	PMID:29059470|REF_RGD_ID:155791679
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320131	D	RGD:9068941	20230105	RGD		mRNA, protein:increased expression:liver (human)	PMID:29059470|REF_RGD_ID:155791679
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320131	D	RGD:9068941	20230128	RGD		human cells in mouse model	PMID:30391496|REF_RGD_ID:155804298
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1320131	D	RGD:9068941	20230128	RGD		mRNA, protein:increased expression:liver(human)	PMID:30391496|REF_RGD_ID:155804298
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1320132	D	RGD:9068941	20230105	RGD			PMID:29059470|REF_RGD_ID:155791679
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9001031	Retrognathia		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:22541558|PMID:23568615|PMID:25741868
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9004538	Hearing Loss		ISO	RGD:1320131	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing loss	PMID:25741868
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9005616	Micrognathism		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:22541558|PMID:23568615|PMID:24003905|PMID:26228803
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1320131	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25741868
12157706	SF3B4	splicing factor 3b subunit 4	gene	DOID:9009121	lung metastasis		ISO	RGD:1320131	D	RGD:9068941	20230128	RGD		human cells in mouse model	PMID:30391496|REF_RGD_ID:155804298
12157716	HMGB2	high mobility group box 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12157716	HMGB2	high mobility group box 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157716	HMGB2	high mobility group box 2	gene	DOID:1324	lung cancer		ISO	RGD:1605728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157716	HMGB2	high mobility group box 2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1605728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24366584|PMID:27602772
12157716	HMGB2	high mobility group box 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157716	HMGB2	high mobility group box 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20851854
12157716	HMGB2	high mobility group box 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29877212
12157716	HMGB2	high mobility group box 2	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1605728	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:articular cartilage	PMID:19139395|REF_RGD_ID:10402184
12157716	HMGB2	high mobility group box 2	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:736524	D	RGD:9068941	20200609	RGD			PMID:19139395|REF_RGD_ID:10402184
12157716	HMGB2	high mobility group box 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1605728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12157716	HMGB2	high mobility group box 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605728	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157716	HMGB2	high mobility group box 2	gene	DOID:9970	obesity		ISO	RGD:1605728	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20882379
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:1115	sarcoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605927	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157725	CRISPLD1	cysteine rich secretory protein LCCL domain containing 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157745	NUAK2	NUAK family kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157745	NUAK2	NUAK family kinase 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12157745	NUAK2	NUAK family kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157745	NUAK2	NUAK family kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157745	NUAK2	NUAK family kinase 2	gene	DOID:9007291	Anencephaly 2		ISO	RGD:1603952	D	RGD:7240710	20210728	OMIM			
12157745	NUAK2	NUAK family kinase 2	gene	DOID:9007291	Anencephaly 2		ISO	RGD:1603952	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Anencephaly 2	PMID:25741868
12157745	NUAK2	NUAK family kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603952	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:10534	stomach cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:1115	sarcoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:1324	lung cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:3275	thymoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:4362	cervical cancer		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157763	FAM114A2	family with sequence similarity 114 member A2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157803	NRXN3	neurexin 3	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		DNA:SNP,haplotype:Chr14:rs8019381, rs760288|rs8019381|2rs2293847 (human)	PMID:17804423|REF_RGD_ID:405096431
12157803	NRXN3	neurexin 3	gene	DOID:0050742	nicotine dependence		ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		DNA:polymorphisms:cds:(rs199840331, p.Y234), p.G696, p.T99P (human)	PMID:25450229|REF_RGD_ID:11526246
12157803	NRXN3	neurexin 3	gene	DOID:0050742	nicotine dependence	ameliorates	ISO	RGD:1353595	D	RGD:9068941	20240314	RGD		DNA:SNP, haplotype: :rs1424850|rs221497|rs221473 (human)	PMID:22716474|REF_RGD_ID:402528880
12157803	NRXN3	neurexin 3	gene	DOID:0050742	nicotine dependence	severity	ISO	RGD:1353595	D	RGD:9068941	20240321	RGD		associated with schizophrenia;DNA:SNP:exon 5 (rs1004212) (human)	PMID:19658047|REF_RGD_ID:405096432
12157803	NRXN3	neurexin 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157803	NRXN3	neurexin 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353595	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12157803	NRXN3	neurexin 3	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	
12157803	NRXN3	neurexin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157803	NRXN3	neurexin 3	gene	DOID:1059	intellectual disability		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12157803	NRXN3	neurexin 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12157803	NRXN3	neurexin 3	gene	DOID:12849	autistic disorder		ISO	RGD:1353595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12157803	NRXN3	neurexin 3	gene	DOID:1324	lung cancer		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157803	NRXN3	neurexin 3	gene	DOID:14261	fragile X syndrome		ISO	RGD:1553035	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus,somatosendory cortex	PMID:26235839|REF_RGD_ID:11554325
12157803	NRXN3	neurexin 3	gene	DOID:1826	epilepsy		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12157803	NRXN3	neurexin 3	gene	DOID:2030	anxiety disorder		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	
12157803	NRXN3	neurexin 3	gene	DOID:2340	craniosynostosis		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	
12157803	NRXN3	neurexin 3	gene	DOID:303	substance-related disorder		ISO	RGD:1353595	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12157803	NRXN3	neurexin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157803	NRXN3	neurexin 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157803	NRXN3	neurexin 3	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12157803	NRXN3	neurexin 3	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353595	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12157803	NRXN3	neurexin 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12157803	NRXN3	neurexin 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	
12157803	NRXN3	neurexin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157803	NRXN3	neurexin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353595	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157823	TRARG1	trafficking regulator of GLUT4 (SLC2A4) 1	gene	DOID:1324	lung cancer		ISO	RGD:1316946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157835	CDC16	cell division cycle 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157835	CDC16	cell division cycle 16	gene	DOID:10534	stomach cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157835	CDC16	cell division cycle 16	gene	DOID:1115	sarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12157835	CDC16	cell division cycle 16	gene	DOID:1324	lung cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12157835	CDC16	cell division cycle 16	gene	DOID:3275	thymoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157835	CDC16	cell division cycle 16	gene	DOID:4362	cervical cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157835	CDC16	cell division cycle 16	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12157835	CDC16	cell division cycle 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157835	CDC16	cell division cycle 16	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157835	CDC16	cell division cycle 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157835	CDC16	cell division cycle 16	gene	DOID:9256	colorectal cancer		ISO	RGD:1312892	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1351033	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157861	ZBP1	Z-DNA binding protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351033	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:10534	stomach cancer		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:1936	atherosclerosis		ISO	RGD:1603222	D	RGD:9068941	20230128	RGD		associated with methylation, coronary artery disease:mRNA:altered expression:artery wall (human)	PMID:33381146|REF_RGD_ID:155882464
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:3275	thymoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:4362	cervical cancer		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157877	SERGEF	secretion regulating guanine nucleotide exchange factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603222	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12157899	PNRC1	proline rich nuclear receptor coactivator 1	gene	DOID:0080600	COVID-19		ISO	RGD:1354036	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12157899	PNRC1	proline rich nuclear receptor coactivator 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1354036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12157899	PNRC1	proline rich nuclear receptor coactivator 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12157906	BCDIN3D	BCDIN3 domain containing RNA methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601723	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157915	KRT15	keratin 15	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1342638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12157915	KRT15	keratin 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157915	KRT15	keratin 15	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1342638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12157915	KRT15	keratin 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1342638	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157915	KRT15	keratin 15	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1342638	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22011395
12157939	ZFP1	ZFP1 zinc finger protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12157939	ZFP1	ZFP1 zinc finger protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736098	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:26929985|REF_RGD_ID:14696811
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:1909	melanoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:4450	renal cell carcinoma		ISO	RGD:736098	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:21132003|REF_RGD_ID:14696812
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736098	D	RGD:9068941	20200609	RGD			PMID:28672194|REF_RGD_ID:14696810
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:9000740	ST Elevation Myocardial Infarction	severity	ISO	RGD:736098	D	RGD:9068941	20200609	RGD			PMID:27441480|REF_RGD_ID:14696800
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12157957	LOC100688210	ATP synthase F(0) complex subunit C2, mitochondrial-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736098	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12157970	MIR148A	microRNA mir-148a	gene	DOID:10591	pre-eclampsia	ameliorates	ISO	RGD:9685082	D	RGD:9068941	20230323	RGD			PMID:31203154|REF_RGD_ID:213230155
12157970	MIR148A	microRNA mir-148a	gene	DOID:2043	hepatitis B		ISO	RGD:1346027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12157970	MIR148A	microRNA mir-148a	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1346027	D	RGD:9068941	20220825	RGD		human cells in mouse model;RNA:increased expression:colon,exosome (human)	PMID:28211508|REF_RGD_ID:153344546
12157970	MIR148A	microRNA mir-148a	gene	DOID:3021	acute kidney failure		ISO	RGD:1346027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12157970	MIR148A	microRNA mir-148a	gene	DOID:4989	pancreatitis		ISO	RGD:1346027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27840954
12157970	MIR148A	microRNA mir-148a	gene	DOID:6000	congestive heart failure		ISO	RGD:1346027	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12157970	MIR148A	microRNA mir-148a	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1346027	D	RGD:9068941	20200702	CTD		CTD Direct Evidence: therapeutic	PMID:32268151
12157970	MIR148A	microRNA mir-148a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346027	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25359176|PMID:28545106
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:0080198	infantile histiocytoid cardiomyopathy		ISO	RGD:1312650	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Histiocytoid cardiomyopathy	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:10534	stomach cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:1115	sarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:1324	lung cancer		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:1909	melanoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1312650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158063	FAM135A	family with sequence similarity 135 member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1352550	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158103	ELMOD2	ELMO domain containing 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352550	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158115	PEG3	paternally expressed 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12158115	PEG3	paternally expressed 3	gene	DOID:9003155	Parasitic Liver Diseases		ISO	RGD:1322359	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22561520
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:4362	cervical cancer		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158135	FCF1	FCF1 rRNA-processing protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322068	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:733839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:1115	sarcoma		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:1324	lung cancer		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:3275	thymoma		ISO	RGD:733839	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733839	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158147	LRP3	LDL receptor related protein 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733839	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158155	SRM	spermidine synthase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158155	SRM	spermidine synthase	gene	DOID:10534	stomach cancer		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158155	SRM	spermidine synthase	gene	DOID:1909	melanoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158155	SRM	spermidine synthase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:732806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12158155	SRM	spermidine synthase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158155	SRM	spermidine synthase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158155	SRM	spermidine synthase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12158155	SRM	spermidine synthase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12158155	SRM	spermidine synthase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158155	SRM	spermidine synthase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:1115	sarcoma		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:1324	lung cancer		ISO	RGD:1347157	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:289	endometriosis		ISO	RGD:1347157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864642
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1347157	D	RGD:9068941	20200609	RGD			PMID:11673796|PMID:9322233|REF_RGD_ID:6480265|REF_RGD_ID:6480269
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:3312	bipolar disorder	susceptibility	ISO	RGD:1347157	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-461C>T, -207T>C(human)	PMID:14699425|REF_RGD_ID:6480267
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1347157	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:5419	schizophrenia		ISO	RGD:1347157	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:intron,exons:-15G>A, 58G>A, 800C>T (human)	PMID:11317223|REF_RGD_ID:6480266
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1347157	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15557493
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158165	IMPA2	inositol monophosphatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347157	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158177	LOC100684429	protein BEX1-like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158177	LOC100684429	protein BEX1-like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158177	LOC100684429	protein BEX1-like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353223	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158178	TCTN1	tectonic family member 1	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disorders	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
12158178	TCTN1	tectonic family member 1	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532|PMID:9536098
12158178	TCTN1	tectonic family member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:0070115	Meckel syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysencephalia splachnocystica	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Agenesis of cerebellar vermis | ClinVar Annotator: match by term: Joubert syndrome 1	PMID:16199547|PMID:17576681|PMID:21725307|PMID:22693042|PMID:25741868|PMID:27894351|PMID:28492532|PMID:9536098
12158178	TCTN1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26489806|PMID:27894351|PMID:28492532|PMID:9536098
12158178	TCTN1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CEREBELLOPARENCHYMAL DISORDER IV | ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:17576681|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26477546|PMID:26489806|PMID:27894351|PMID:28492532|PMID:31302911|PMID:9536098
12158178	TCTN1	tectonic family member 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis | ClinVar Annotator: match by term: Joubert-Boltshauser syndrome	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:7240710	20190315	OMIM			
12158178	TCTN1	tectonic family member 1	gene	DOID:0110982	Joubert syndrome 13		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: JOUBERT SYNDROME 13 | ClinVar Annotator: match by term: Joubert syndrome 13 | ClinVar Annotator: match by term: TCTN1-related condition	PMID:16199547|PMID:18414213|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:26092869|PMID:26123494|PMID:26477546|PMID:27894351|PMID:28492532|PMID:31302911
12158178	TCTN1	tectonic family member 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:16199547|PMID:21725307|PMID:22693042|PMID:25741868|PMID:25920555|PMID:27894351|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:1115	sarcoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:1324	lung cancer		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868
12158178	TCTN1	tectonic family member 1	gene	DOID:1909	melanoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158178	TCTN1	tectonic family member 1	gene	DOID:3275	thymoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158178	TCTN1	tectonic family member 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606246	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158178	TCTN1	tectonic family member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158178	TCTN1	tectonic family member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606246	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:630	genetic disease		ISO	RGD:1606246	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12158178	TCTN1	tectonic family member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158178	TCTN1	tectonic family member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1606246	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
12158178	TCTN1	tectonic family member 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1606246	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:26092869
12158178	TCTN1	tectonic family member 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12158178	TCTN1	tectonic family member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606246	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158210	ANKRD40CL	ANKRD40 C-terminal like	gene	DOID:5041	esophageal cancer		ISO	RGD:2302584	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158232	TMEM47	transmembrane protein 47	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158232	TMEM47	transmembrane protein 47	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158232	TMEM47	transmembrane protein 47	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12158232	TMEM47	transmembrane protein 47	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343840	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:1115	sarcoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1313775	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1313775	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:5419	schizophrenia		ISO	RGD:1305632	D	RGD:9068941	20200609	RGD			PMID:23932495|REF_RGD_ID:9586022
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1313775	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26539891
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158239	ASH2L	ASH2 like, histone lysine methyltransferase complex subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:0060193	amyotrophic lateral sclerosis type 1	treatment	ISO	RGD:737025	D	RGD:9068941	20200609	RGD			PMID:12876198|REF_RGD_ID:737756
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:1115	sarcoma		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:1324	lung cancer		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:734060	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:multiple	PMID:20458436|REF_RGD_ID:401794454
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:4362	cervical cancer		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:734060	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:exon: (rs202676,rs202680) (human)	PMID:18635682|REF_RGD_ID:329853746
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:734060	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18247401|PMID:21923190
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158275	FOLH1B	folate hydrolase 1B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734060	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1606272	D	RGD:7240710	20180130	OMIM			
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY | ClinVar Annotator: match by term: Anemia, sideroblastic, 2, pyridoxine-refractory | ClinVar Annotator: match by term: SLC25A38-related condition	PMID:19412178|PMID:21393332|PMID:25741868|PMID:25985931|PMID:28492532|PMID:28772256|PMID:30735661|PMID:31338833
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:1115	sarcoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:5041	esophageal cancer		ISO	RGD:1606272	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:630	genetic disease		ISO	RGD:1606272	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1606272	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19412178
12158302	SLC25A38	solute carrier family 25 member 38	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606272	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0060180	colitis		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:14738862|REF_RGD_ID:7257706
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0060973	WHIM syndrome 2		ISO	RGD:735299	D	RGD:7240710	20210728	OMIM			
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0060973	WHIM syndrome 2		ISO	RGD:735299	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: CXCR2-related condition | ClinVar Annotator: match by term: WHIM syndrome 2	PMID:24777453|PMID:25741868|PMID:28492532|PMID:34854278|PMID:39086298
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:735299	D	RGD:9068941	20210115	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0080600	COVID-19		ISO	RGD:735299	D	RGD:9068941	20210115	RGD		mRNA:increased expression:respiratory system fluid/secretion	PMID:32407669|REF_RGD_ID:30296672
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:0080784	urinary tract infection		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:18401338|REF_RGD_ID:7257688
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:10457	Legionnaires' disease		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:11254553|REF_RGD_ID:5135252
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:10459	common cold		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:19864593|REF_RGD_ID:5131210
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:10690	mastitis		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:16041010
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:10763	hypertension		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27678262
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:10952	nephritis		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:11313419|REF_RGD_ID:7257685
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735299	D	RGD:9068941	20210115	RGD		DNA:SNP	PMID:19252927|REF_RGD_ID:2315930
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:11400	pyelonephritis		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:21814172|REF_RGD_ID:7257675
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:11729	Lyme disease	severity	ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:12847259|REF_RGD_ID:7257681
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:1205	allergic disease		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:12205	dengue disease	treatment	ISO	RGD:735300	D	RGD:9068941	20201015	RGD			PMID:30098206|REF_RGD_ID:39938828
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:12375	bronchopneumonia	disease_progression	ISO	RGD:735300	D	RGD:9068941	20200609	RGD		associated with Plague	PMID:21356370|REF_RGD_ID:5134954
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:1324	lung cancer		ISO	RGD:735299	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:2154	nephroblastoma		ISO	RGD:735299	D	RGD:9068941	20210115	RGD			PMID:17634442|REF_RGD_ID:7257700
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:735299	D	RGD:9068941	20210115	RGD		DNA:SNPs: :rs4674257, rs4674259 (human)	PMID:21214373|REF_RGD_ID:7257677
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:735299	D	RGD:9068941	20210115	RGD			PMID:12857718|REF_RGD_ID:5135248
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:3213	demyelinating disease		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:19616545|REF_RGD_ID:7257694
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:25257527
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:18836137|REF_RGD_ID:5134989
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:409	liver disease		ISO	RGD:735299	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:35961375
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:16210641|REF_RGD_ID:7257682
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:735299	D	RGD:9068941	20260425	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:12532104|REF_RGD_ID:645135183
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:735299	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:2906	D	RGD:9068941	20260709	RGD			PMID:17496165|REF_RGD_ID:736706847
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:552	pneumonia		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:559	acute pyelonephritis	susceptibility	ISO	RGD:735299	D	RGD:9068941	20210115	RGD		DNA:polymorphism:3' utr:1208C>T (human)	PMID:22325052|REF_RGD_ID:7207860
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735299	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:783	end stage renal disease		ISO	RGD:735299	D	RGD:9068941	20210115	RGD		DNA:polymorphism: :1208C>T (human)	PMID:23615182|REF_RGD_ID:7257672
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:823	periapical periodontitis		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:22341067|REF_RGD_ID:7257692
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:850	lung disease		ISO	RGD:735300	D	RGD:9068941	20200609	RGD		Acute Lung Injury	PMID:21330942|REF_RGD_ID:5134955
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:8577	ulcerative colitis		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:21297633
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:900	hepatopulmonary syndrome		ISO	RGD:2906	D	RGD:9068941	20260507	RGD		mRNA, protein:increased expression:lung	PMID:27879294|REF_RGD_ID:645244060
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:900	hepatopulmonary syndrome	treatment	ISO	RGD:2906	D	RGD:9068941	20260507	RGD			PMID:27879294|REF_RGD_ID:645244060
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9000310	Lung Injury		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:15347560|REF_RGD_ID:7257705
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:735300	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:22791342|REF_RGD_ID:7257674
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:19283893|REF_RGD_ID:5129125
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:19616545|REF_RGD_ID:7257694
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9004283	Transplant Rejection		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:15840022|PMID:22882432|REF_RGD_ID:7257683|REF_RGD_ID:7257690
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9004484	Sepsis		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:17138957
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:735300	D	RGD:9068941	20200609	RGD		associated with Pancreatitis	PMID:17014919|REF_RGD_ID:7257703
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9004771	Vascular Remodeling		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:27678262
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:2906	D	RGD:9068941	20200609	RGD			PMID:15516486|REF_RGD_ID:7257704
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9005372	Inflammation		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:23144964|REF_RGD_ID:7257673
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9005968	Neuralgia		ISO	RGD:735299	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:31432094
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:735300	D	RGD:9068941	20200609	RGD			PMID:20038794|REF_RGD_ID:7257679
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:9074	systemic lupus erythematosus	severity	ISO	RGD:735299	D	RGD:9068941	20210115	RGD			PMID:14596426|REF_RGD_ID:7257684
12158316	CXCR2	C-X-C motif chemokine receptor 2	gene	DOID:936	brain disease		ISO	RGD:735299	D	RGD:9068941	20230608	CTD		CTD Direct Evidence: marker/mechanism	PMID:35961375
12158331	PSME3	proteasome activator subunit 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:1324	lung cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:1909	melanoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:3275	thymoma		ISO	RGD:1315927	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:4362	cervical cancer		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315927	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1315927	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15308739
12158331	PSME3	proteasome activator subunit 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158331	PSME3	proteasome activator subunit 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158349	MIOX	myo-inositol oxygenase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158349	MIOX	myo-inositol oxygenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12158349	MIOX	myo-inositol oxygenase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:737368	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158349	MIOX	myo-inositol oxygenase	gene	DOID:5041	esophageal cancer		ISO	RGD:737368	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158349	MIOX	myo-inositol oxygenase	gene	DOID:557	kidney disease		ISO	RGD:737368	D	RGD:9068941	20251009	CTD		CTD Direct Evidence: marker/mechanism	PMID:35100813
12158365	GFRAL	GDNF family receptor alpha like	gene	DOID:0060058	lymphoma		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12158365	GFRAL	GDNF family receptor alpha like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158365	GFRAL	GDNF family receptor alpha like	gene	DOID:5041	esophageal cancer		ISO	RGD:1604920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158395	P2RY6	pyrimidinergic receptor P2Y6	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736435	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12158395	P2RY6	pyrimidinergic receptor P2Y6	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158395	P2RY6	pyrimidinergic receptor P2Y6	gene	DOID:9256	colorectal cancer		ISO	RGD:736435	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1343076	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:10283	prostate cancer		ISO	RGD:1343076	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1343076	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:1909	melanoma		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:4362	cervical cancer		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:5041	esophageal cancer		ISO	RGD:1343076	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:6039	uveal melanoma		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158430	SLC2A4RG	SLC2A4 regulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343076	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158445	IRX6	iroquois homeobox 6	gene	DOID:1324	lung cancer		ISO	RGD:1344383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158445	IRX6	iroquois homeobox 6	gene	DOID:4362	cervical cancer		ISO	RGD:1344383	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:7240710	20240807	OMIM			
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogenosis Fanconi type	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11079206|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23967202|PMID:23986439|PMID:24033266|PMID:24718840|PMID:24912437|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:730861	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FANCONI-BICKEL SYNDROME | ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10987651|PMID:11079206|PMID:11810292|PMID:16199547|PMID:17576681|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24718840|PMID:24912437|PMID:25741868|PMID:25919556|PMID:27487919|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34828390|PMID:35738466|PMID:9354798|PMID:9536098
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0080074	neural tube defect		ISO	RGD:11306	D	RGD:9068941	20200609	RGD		associated with Hyperglycemia	PMID:17235524|REF_RGD_ID:2312360
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:730861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:17636114|PMID:24033266|PMID:25741868|PMID:26495765|PMID:27035118|PMID:28492532|PMID:34669123
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:11810292|PMID:16199547|PMID:22145468|PMID:22865906|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:22145468|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome | ClinVar Annotator: match by term: Glycogen storage disease XI	PMID:10697967|PMID:10987651|PMID:11044475|PMID:11810292|PMID:13480676|PMID:14551916|PMID:15397919|PMID:16199547|PMID:17576681|PMID:17636114|PMID:18414213|PMID:21271664|PMID:22145468|PMID:22214819|PMID:22350464|PMID:22865906|PMID:23271022|PMID:23986439|PMID:24033266|PMID:24718840|PMID:25741868|PMID:25919556|PMID:26495765|PMID:27035118|PMID:27487919|PMID:27738794|PMID:28116328|PMID:28492532|PMID:30950137|PMID:34669123|PMID:34828390|PMID:35738466|PMID:3839598|PMID:6274135|PMID:7564233|PMID:7632512|PMID:8027028|PMID:8063045|PMID:8362811|PMID:9266402|PMID:9354798|PMID:9536098|PMID:9686354
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:1062	Fanconi syndrome		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pseudo-Phlorizin diabetes	PMID:25741868|PMID:28492532
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:2747	glycogen storage disease		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		Fanconi-Bickel syndrome,OMIM:227810;DNA:point mutation:exon:p.R365X (human)	PMID:9354798|REF_RGD_ID:1624253
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:2843	long QT syndrome		ISO	RGD:730861	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:3070	high grade glioma		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:11306	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic duct	PMID:19252908|REF_RGD_ID:2324975
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:3892	insulinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:3892	insulinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreatic B cell	PMID:12114701|REF_RGD_ID:2324976
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:5577	gastrinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD			PMID:12114701|REF_RGD_ID:2324976
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:5577	gastrinoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:630	genetic disease		ISO	RGD:730861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8364915
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3705	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:9886959|REF_RGD_ID:12879480
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:730861	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:11810292|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3705	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney	PMID:19433262|REF_RGD_ID:2312358
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16123366
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9007821	Glucagonoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD			PMID:12114701|REF_RGD_ID:2324976
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9007821	Glucagonoma		ISO	RGD:730861	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:8421107|REF_RGD_ID:2324977
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579870
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9351	diabetes mellitus		ISO	RGD:730861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:25741868|PMID:28492532|PMID:8027028|PMID:8063045
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730861	D	RGD:7240710	20180130	OMIM			
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730861	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:11810292|PMID:16199547|PMID:22145468|PMID:22865906|PMID:25741868|PMID:28492532|PMID:35738466|PMID:9354798
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730861	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:17636114|REF_RGD_ID:2312359
12158458	SLC2A2	solute carrier family 2 member 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:730861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12048068
12158485	CHPF	chondroitin polymerizing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158485	CHPF	chondroitin polymerizing factor	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1603198	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12158485	CHPF	chondroitin polymerizing factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158485	CHPF	chondroitin polymerizing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:10763	hypertension		ISO	RGD:732566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:13678427
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:13129	severe pre-eclampsia	severity	ISO	RGD:732566	D	RGD:9068941	20230525	RGD		mRNA:increased expression:decidua basalis (human)	PMID:24331737|REF_RGD_ID:329845529
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:1324	lung cancer		ISO	RGD:732566	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:13241	Behcet's disease		ISO	RGD:732566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23291587
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:2843	long QT syndrome		ISO	RGD:732566	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:732566	D	RGD:9068941	20200609	RGD			PMID:15741767|REF_RGD_ID:2315693
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:732566	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:19202550|REF_RGD_ID:2315691
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:3070	high grade glioma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:3275	thymoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:4362	cervical cancer		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:6039	uveal melanoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:732566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952073|PMID:20062062|PMID:21743469|PMID:23291587
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:8893	psoriasis		ISO	RGD:732566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953187|PMID:20953190|PMID:23291587|PMID:24212883
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158493	ERAP1	endoplasmic reticulum aminopeptidase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732566	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:10534	stomach cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:1115	sarcoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:1324	lung cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:1909	melanoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1602189	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158529	SLC44A3	solute carrier family 44 member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602189	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158560	RALBP1	ralA binding protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158560	RALBP1	ralA binding protein 1	gene	DOID:10629	microphthalmia		ISO	RGD:732627	D	RGD:9068941	20240425	MouseDO			
12158560	RALBP1	ralA binding protein 1	gene	DOID:10763	hypertension		ISO	RGD:737281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23821548
12158560	RALBP1	ralA binding protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158560	RALBP1	ralA binding protein 1	gene	DOID:4074	pancreatic adenocarcinoma	treatment	ISO	RGD:737281	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:22509328|REF_RGD_ID:13792559
12158560	RALBP1	ralA binding protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158560	RALBP1	ralA binding protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158560	RALBP1	ralA binding protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158560	RALBP1	ralA binding protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12158560	RALBP1	ralA binding protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:737281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12158560	RALBP1	ralA binding protein 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:737281	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12158560	RALBP1	ralA binding protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:0080446	developmental and epileptic encephalopathy 66		ISO	RGD:1604046	D	RGD:7240710	20190315	OMIM			
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:0080446	developmental and epileptic encephalopathy 66		ISO	RGD:1604046	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 66 | ClinVar Annotator: match by term: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66 | ClinVar Annotator: match by term: PACS2-related condition	PMID:25741868|PMID:28492532|PMID:29656858|PMID:30684285|PMID:35770754
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604046	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability syndrome | ClinVar Annotator: match by term: intellectual disabilities	PMID:17576681|PMID:20186691|PMID:23733235|PMID:25034272|PMID:25741868|PMID:26626314|PMID:28135719|PMID:28191890|PMID:28492532|PMID:28628100|PMID:28867141|PMID:29656858|PMID:30290155|PMID:30904718|PMID:31036916|PMID:31231135|PMID:32416568|PMID:33243487|PMID:34782754|PMID:36474027|PMID:9536098
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:1909	melanoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:3275	thymoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604046	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:630	genetic disease		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:674	cleft palate		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12158576	PACS2	phosphofurin acidic cluster sorting protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:1324	lung cancer		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:3068	glioblastoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12158616	LRRC59	leucine rich repeat containing 59	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1605059	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30705370
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1349633	D	RGD:9068941	20200609	RGD			PMID:20126313|REF_RGD_ID:7488914
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:12217	Lewy body dementia		ISO	RGD:1349633	D	RGD:9068941	20200609	RGD			PMID:20126313|REF_RGD_ID:7488914
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:12858	Huntington's disease		ISO	RGD:1349633	D	RGD:9068941	20200609	RGD			PMID:20126313|REF_RGD_ID:7488914
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:2030	anxiety disorder	ameliorates	ISO	RGD:1598663	D	RGD:9068941	20231221	RGD		associated with alcohol use disorder	PMID:18322102|REF_RGD_ID:401938616
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:1598663	D	RGD:9068941	20200609	RGD			PMID:17091294|REF_RGD_ID:7488902
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:4362	cervical cancer		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:5419	schizophrenia		ISO	RGD:1349633	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebellar vermis	PMID:10891039|REF_RGD_ID:10047412
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1598663	D	RGD:9068941	20200609	RGD			PMID:15362724|REF_RGD_ID:7488910
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1349633	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:placenta	PMID:20008130|REF_RGD_ID:7488901
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158627	ELK1	ETS transcription factor ELK1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349633	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158644	ZNF713	zinc finger protein 713	gene	DOID:1909	melanoma		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158644	ZNF713	zinc finger protein 713	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158644	ZNF713	zinc finger protein 713	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605220	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158653	FAM186B	family with sequence similarity 186 member B	gene	DOID:12712	nephronophthisis		ISO	RGD:1604773	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:26489029
12158653	FAM186B	family with sequence similarity 186 member B	gene	DOID:3275	thymoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158653	FAM186B	family with sequence similarity 186 member B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158653	FAM186B	family with sequence similarity 186 member B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604773	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:0060695	hyperekplexia		ISO	RGD:732915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperekplexia	PMID:14622583|PMID:16751771|PMID:16884688|PMID:18707791|PMID:22114948|PMID:22700964|PMID:25741868|PMID:28492532|PMID:29859229|PMID:31604777|PMID:32714574|PMID:33310157
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:0060698	hyperekplexia 3		ISO	RGD:732915	D	RGD:7240710	20180130	OMIM			
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:0060698	hyperekplexia 3		ISO	RGD:732915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperekplexia 3 | ClinVar Annotator: match by term: SLC6A5-related condition	PMID:14622583|PMID:16199547|PMID:16751771|PMID:17576681|PMID:20301437|PMID:21515498|PMID:22700964|PMID:22753417|PMID:23030542|PMID:24030948|PMID:25640679|PMID:25741868|PMID:28492532|PMID:31370103|PMID:31604777|PMID:35841715|PMID:9536098
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:13366	Stiff-Person syndrome		ISO	RGD:732915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25480793
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:630	genetic disease		ISO	RGD:732915	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:9004992	Apnea		ISO	RGD:732915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25480793
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:9008464	Cryopyrin-Associated Periodic Syndromes		IAGP		D	RGD:12801476	20250423	OMIA		Hyperekplexia (Startle disease), SLC6A5-related	PMID:21420493|PMID:6524730|PMID:30847549|PMID:33769611|PMID:38003185|PMID:40012122
12158665	SLC6A5	solute carrier family 6 member 5	gene	DOID:936	brain disease		ISO	RGD:732915	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25480793
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050665	fetal alcohol syndrome		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fetal alcohol syndrome	PMID:25741868|PMID:28492532
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0050696	fetal alcohol spectrum disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: fetal alcohol syndrome	PMID:25741868|PMID:28492532
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder | ClinVar Annotator: match by term: Autism spectrum disorders	PMID:25741868|PMID:28492532
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080228	autosomal dominant intellectual developmental disorder 53		ISO	RGD:736752	D	RGD:7240710	20190315	OMIM			
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080228	autosomal dominant intellectual developmental disorder 53		ISO	RGD:736752	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMK2A-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 53	PMID:25741868|PMID:28130356|PMID:28492532|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0080833	laryngomalacia		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0081224	autosomal recessive intellectual developmental disorder 63		ISO	RGD:736752	D	RGD:7240710	20190315	OMIM			
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:0081224	autosomal recessive intellectual developmental disorder 63		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 63	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1059	intellectual disability		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Borderline intellectual disability | ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28130356|PMID:28135719|PMID:29100089|PMID:29560374|PMID:29784083|PMID:30577886
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736752	D	RGD:9068941	20200609	RGD			PMID:15621017|REF_RGD_ID:13681926
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:12849	autistic disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1324	lung cancer		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:14764	Larsen syndrome		ISO	RGD:736752	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Larsen syndrome, dominant type	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1574	alcohol use disorder		ISO	RGD:10284	D	RGD:9068941	20250403	RGD		mRNA:altered expression:prefrontal cortex (mouse)	PMID:28714806|REF_RGD_ID:18337277
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:10284	D	RGD:9068941	20250403	RGD		mRNA:increased expression:cerebral cortex (in females only, mouse)	PMID:32937997|REF_RGD_ID:598099545
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1657	ventricular septal defect		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:28135719|PMID:29100089
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:1826	epilepsy		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28130356|PMID:28492532|PMID:29100089|PMID:29560374|PMID:29784083
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:2234	focal epilepsy		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:10284	D	RGD:9068941	20200609	RGD			PMID:12199152|REF_RGD_ID:13681927
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:224	transient cerebral ischemia		ISO	RGD:2261	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus	PMID:12951199|REF_RGD_ID:7241547
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:2769	tic disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Phonic tics	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3070	high grade glioma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:736752	D	RGD:9068941	20200609	RGD			PMID:29393370|REF_RGD_ID:13702478
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3312	bipolar disorder		ISO	RGD:10284	D	RGD:9068941	20220825	MouseDO			
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:14688616|REF_RGD_ID:1358416
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:5041	esophageal cancer		ISO	RGD:736752	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:535	sleep disorder		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:540	strabismus		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:630	genetic disease		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28135719|PMID:29100089|PMID:29560374
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:6419	tetralogy of Fallot		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tetralogy of Fallot	PMID:25741868|PMID:28492532
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:736752	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:30673822
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:77	gastrointestinal system disease		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the digestive system	PMID:28135719|PMID:29100089
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:893	Wilson disease		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:18042863|REF_RGD_ID:7240711
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20053885
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9002997	Glossoptosis		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glossoptosis	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9003133	Hypertelorism		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9003816	Macrocephaly		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:28130356|PMID:28135719|PMID:29100089|PMID:29560374|PMID:29784083
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:736752	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9004673	Hearing Loss, Cisplatin-Induced	treatment	ISO	RGD:2261	D	RGD:9068941	20200609	RGD			PMID:23558232|REF_RGD_ID:9685025
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005369	Hepatomegaly		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005372	Inflammation		ISO	RGD:2261	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:12176168|REF_RGD_ID:9685027
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005466	Language Development Disorders		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia | ClinVar Annotator: match by term: Muscular hypotonia	PMID:25741868|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:736752	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14725635
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:2261	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:736752	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007661	Dwarfism		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9007892	Tics		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Motor tics	
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25741872|PMID:28130356|PMID:29100089|PMID:29560374|PMID:29784083
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:28135719|PMID:29100089|PMID:29560374|PMID:30577886
12158691	CAMK2A	calcium/calmodulin dependent protein kinase II alpha	gene	DOID:9008589	Hallux Valgus		ISO	RGD:736752	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallux valgus	
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:0050952	spastic ataxia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:39408944|PMID:40719007
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:0112346	hereditary spastic paraplegia 83		ISO	RGD:1606204	D	RGD:7240710	20201007	OMIM			
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:0112346	hereditary spastic paraplegia 83		ISO	RGD:1606204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 83, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Spastic paraplegia 83, autosomal recessive	PMID:25741868|PMID:32707086|PMID:33970200
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1332429	D	RGD:9068941	20230406	MouseDO			
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:540	strabismus		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:32707086|PMID:37838930
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:607	paraplegia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200|PMID:35985664|PMID:40368591
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:630	genetic disease		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:32707086|PMID:33970200|PMID:37838930
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities		ISO	RGD:1606204	D	RGD:7240710	20201216	OMIM			
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:9004548	Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities		ISO	RGD:1606204	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy, spastic quadriplegic, 1 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES | ClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	PMID:25741868|PMID:32707086|PMID:33188300|PMID:33970200|PMID:37838930
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:9004866	Ataxia		ISO	RGD:1606204	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Incoordination	PMID:25741868|PMID:32707086|PMID:37838930
12158731	HPDL	4-hydroxyphenylpyruvate dioxygenase like	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1606204	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32707086|PMID:37838930
12158737	ADM5	adrenomedullin 5 (putative)	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:3499499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158748	IVL	involucrin	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1314662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12158748	IVL	involucrin	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1314662	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18572023
12158831	SFXN4	sideroflexin 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:0111484	combined oxidative phosphorylation deficiency 18		ISO	RGD:1314503	D	RGD:7240710	20180130	OMIM			
12158831	SFXN4	sideroflexin 4	gene	DOID:0111484	combined oxidative phosphorylation deficiency 18		ISO	RGD:1314503	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18 | ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 18 | ClinVar Annotator: match by term: Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome | ClinVar Annotator: match by term: SFXN4-related condition	PMID:16199547|PMID:24119684|PMID:25741868|PMID:28492532|PMID:38703036
12158831	SFXN4	sideroflexin 4	gene	DOID:10534	stomach cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158831	SFXN4	sideroflexin 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158831	SFXN4	sideroflexin 4	gene	DOID:1115	sarcoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:1324	lung cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158831	SFXN4	sideroflexin 4	gene	DOID:1657	ventricular septal defect		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12158831	SFXN4	sideroflexin 4	gene	DOID:1909	melanoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:4362	cervical cancer		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158831	SFXN4	sideroflexin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:630	genetic disease		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12158831	SFXN4	sideroflexin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158831	SFXN4	sideroflexin 4	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12158831	SFXN4	sideroflexin 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314503	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:1059	intellectual disability		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:1115	sarcoma		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:1826	epilepsy		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:4195	hyperglycemia		ISO	RGD:1320567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18056790
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9005616	Micrognathism		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: SIM1-associated metabolic syndrome	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9007573	Flatfoot		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pes planus	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1320567	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15818620
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9009021	Plagiocephaly		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:21512513|PMID:2152513|PMID:23778139|PMID:25234154|PMID:25741868|PMID:28492532
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9452	steatotic liver disease		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition | ClinVar Annotator: match by term: UCP3-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30991789|PMID:33434169
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:19401419|PMID:21512513|PMID:2152513|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25234154|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169
12158849	SIM1	SIM bHLH transcription factor 1	gene	DOID:9970	obesity		ISO	RGD:1320567	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency | ClinVar Annotator: match by term: SIM1-related condition	PMID:16924270|PMID:23778136|PMID:23778139|PMID:24097297|PMID:25741868|PMID:26795956|PMID:28492532|PMID:29216354|PMID:30926952|PMID:30991789|PMID:33434169|PMID:37329217
12158867	PURG	purine rich element binding protein G	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158867	PURG	purine rich element binding protein G	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312911	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158867	PURG	purine rich element binding protein G	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312911	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158881	UBN1	ubinuclein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12158881	UBN1	ubinuclein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158881	UBN1	ubinuclein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158881	UBN1	ubinuclein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12158881	UBN1	ubinuclein 1	gene	DOID:1115	sarcoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12158881	UBN1	ubinuclein 1	gene	DOID:1324	lung cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12158881	UBN1	ubinuclein 1	gene	DOID:1909	melanoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158881	UBN1	ubinuclein 1	gene	DOID:3275	thymoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12158881	UBN1	ubinuclein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158881	UBN1	ubinuclein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1323115	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158881	UBN1	ubinuclein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158881	UBN1	ubinuclein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12158881	UBN1	ubinuclein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158881	UBN1	ubinuclein 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1323115	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Non-Immune hydrops fetalis	PMID:26036949
12158881	UBN1	ubinuclein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158881	UBN1	ubinuclein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323115	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:1909	melanoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:3312	bipolar disorder		ISO	RGD:1606003	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:4362	cervical cancer		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158912	PLEKHO1	pleckstrin homology domain containing O1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606003	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:1909	melanoma		ISO	RGD:1606988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606988	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158927	MRFAP1	Morf4 family associated protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606988	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158938	C9H17orf99	chromosome 9 C17orf99 homolog	gene	DOID:10534	stomach cancer		ISO	RGD:2299182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158938	C9H17orf99	chromosome 9 C17orf99 homolog	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:2299182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12158938	C9H17orf99	chromosome 9 C17orf99 homolog	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2299182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:10534	stomach cancer		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:1793	pancreatic cancer		ISO	RGD:1351321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17446842
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:9001488	Human Influenza		ISO	RGD:1351321	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158948	LY6E	lymphocyte antigen 6 family member E	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351321	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351526	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1351526	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35534561
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:106	pleural tuberculosis		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD			PMID:20337996|REF_RGD_ID:4891473
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:1324	lung cancer	disease_progression	ISO	RGD:1351526	D	RGD:9068941	20200609	RGD			PMID:16453150|REF_RGD_ID:4891472
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD			PMID:20628341|REF_RGD_ID:4891471
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:2841	asthma		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion	PMID:18684970|REF_RGD_ID:4145489
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:2841	asthma		ISO	RGD:1551080	D	RGD:9068941	20200609	RGD			PMID:10384142|REF_RGD_ID:4891475
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:2841	asthma		ISO	RGD:1551080	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:18316417|REF_RGD_ID:4891474
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:2841	asthma		ISO	RGD:619933	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:289	endometriosis		ISO	RGD:1351526	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30579999
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:respiratory system mucosa, respiratory system fluid/secretion	PMID:18684970|REF_RGD_ID:4145489
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:3310	atopic dermatitis		ISO	RGD:1351526	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437|PMID:22125604
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:3744	cervical squamous cell carcinoma	severity	ISO	RGD:1351526	D	RGD:9068941	20200807	RGD			PMID:28086903|REF_RGD_ID:38455996
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:19715610|REF_RGD_ID:4145488
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:619933	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:4483	rhinitis		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, mononuclear cell	PMID:17517104|REF_RGD_ID:4145498
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:4780	anti-basement membrane glomerulonephritis	treatment	ISO	RGD:619933	D	RGD:9068941	20260409	RGD			PMID:12651599|REF_RGD_ID:2306306
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:552	pneumonia		ISO	RGD:619933	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:15993846|REF_RGD_ID:2306304
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:19942450|REF_RGD_ID:10054497
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:8398	osteoarthritis		ISO	RGD:1351526	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:19942450|REF_RGD_ID:10054497
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9000641	Pain		ISO	RGD:619933	D	RGD:9068941	20200609	RGD			PMID:11438578|REF_RGD_ID:2306307
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1551080	D	RGD:9068941	20200609	RGD		associated with Mycobacterium Infections	PMID:12600821|REF_RGD_ID:4145441
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1551080	D	RGD:9068941	20200609	RGD		associated with Schistosomiasis mansoni	PMID:15466387|REF_RGD_ID:4145515
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9008604	Radiation Pneumonitis		ISO	RGD:619933	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, alveolar macrophage	PMID:15293604|REF_RGD_ID:4145517
12158958	CCL22	C-C motif chemokine ligand 22	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351526	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158985	OBP2B	odorant binding protein 2B	gene	DOID:2394	ovarian cancer		ISO	RGD:1344178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12158985	OBP2B	odorant binding protein 2B	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1344178	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:28381600
12158985	OBP2B	odorant binding protein 2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12158985	OBP2B	odorant binding protein 2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344178	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12158997	REN	renin	gene	DOID:0050477	Liddle syndrome		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12185466
12158997	REN	renin	gene	DOID:0050811	congenital adrenal hyperplasia		ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:increased expression:blood serum (human)	PMID:31505456|REF_RGD_ID:125097501
12158997	REN	renin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12158997	REN	renin	gene	DOID:0060001	withdrawal disorder		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28415
12158997	REN	renin	gene	DOID:0060180	colitis	treatment	ISO	RGD:1332384	D	RGD:9068941	20210402	RGD			PMID:24858618|REF_RGD_ID:125097500
12158997	REN	renin	gene	DOID:0060224	atrial fibrillation		ISO	RGD:736366	D	RGD:9068941	20200609	RGD		associated with Rheumatic Heart Disease; protein:increased activity:plasma (human)	PMID:21911268|REF_RGD_ID:6892701
12158997	REN	renin	gene	DOID:0061119	autosomal dominant tubulointerstitial kidney disease 4		ISO	RGD:736366	D	RGD:7240710	20180130	OMIM			
12158997	REN	renin	gene	DOID:0061119	autosomal dominant tubulointerstitial kidney disease 4		ISO	RGD:736366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT 4	PMID:16116425|PMID:16199547|PMID:22095942|PMID:25741868|PMID:28492532
12158997	REN	renin	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	severity	ISO	RGD:3554	D	RGD:9068941	20241114	RGD			PMID:36653797|REF_RGD_ID:408395146
12158997	REN	renin	gene	DOID:0080204	renal hypoplasia		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	
12158997	REN	renin	gene	DOID:0080379	nephrotic syndrome type 2		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Steroid-resistant nephrotic syndrome	
12158997	REN	renin	gene	DOID:0080827	human cytomegalovirus infection		ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:decreased expression:blood plasma (human)	PMID:29752343|REF_RGD_ID:40400905
12158997	REN	renin	gene	DOID:1063	interstitial nephritis		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Interstitial nephritis	
12158997	REN	renin	gene	DOID:1074	kidney failure		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Kidney failure | ClinVar Annotator: match by term: Renal insufficiency	
12158997	REN	renin	gene	DOID:10762	portal hypertension		ISO	RGD:736366	D	RGD:9068941	20200609	RGD			PMID:12854169|REF_RGD_ID:1580698
12158997	REN	renin	gene	DOID:10763	hypertension		ISO	RGD:1332384	D	RGD:9068941	20200609	RGD			PMID:22681982|REF_RGD_ID:6784501
12158997	REN	renin	gene	DOID:10763	hypertension		ISO	RGD:1332384	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (mouse)	PMID:22493079|REF_RGD_ID:6892655
12158997	REN	renin	gene	DOID:10763	hypertension		ISO	RGD:3554	D	RGD:9068941	20200609	RGD			PMID:16467505|REF_RGD_ID:1580671
12158997	REN	renin	gene	DOID:10763	hypertension		ISO	RGD:736366	D	RGD:9068941	20200609	RGD			PMID:16138564|REF_RGD_ID:1580697
12158997	REN	renin	gene	DOID:10763	hypertension		ISO	RGD:736366	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:1071603|PMID:1149188|PMID:11501062|PMID:12414515|PMID:12600921|PMID:17537837|PMID:18679781|PMID:18847324|PMID:19770776|PMID:19934029|PMID:20429690|PMID:20811386|PMID:21393355|PMID:45830|PMID:62162|PMID:6381767|PMID:7721401|PMID:998518
12158997	REN	renin	gene	DOID:10763	hypertension	treatment	ISO	RGD:3554	D	RGD:9068941	20230812	RGD			PMID:30127255|REF_RGD_ID:401793709
12158997	REN	renin	gene	DOID:10824	malignant hypertension		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2493837
12158997	REN	renin	gene	DOID:10825	essential hypertension		ISO	RGD:736366	D	RGD:9068941	20210402	RGD			PMID:1152295|REF_RGD_ID:125097505
12158997	REN	renin	gene	DOID:10881	hand, foot and mouth disease	treatment	ISO	RGD:736366	D	RGD:9068941	20210625	RGD			PMID:31638922|REF_RGD_ID:127285374
12158997	REN	renin	gene	DOID:11476	osteoporosis		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18847324
12158997	REN	renin	gene	DOID:1184	nephrotic syndrome		ISO	RGD:736366	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	
12158997	REN	renin	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:3554	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:22266601|REF_RGD_ID:6892690
12158997	REN	renin	gene	DOID:12712	nephronophthisis		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	
12158997	REN	renin	gene	DOID:14115	toxic shock syndrome	exacerbates	ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (human)	PMID:31723628|REF_RGD_ID:125097502
12158997	REN	renin	gene	DOID:1591	renovascular hypertension		ISO	RGD:1332384	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal cortex (mouse)	PMID:22378822|REF_RGD_ID:6892688
12158997	REN	renin	gene	DOID:1591	renovascular hypertension		ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (human)	PMID:2240003|REF_RGD_ID:125097504
12158997	REN	renin	gene	DOID:1596	depressive disorder		ISO	RGD:736366	D	RGD:9068941	20210402	RGD		Associated with hypertension;protein:decreased activity:blood (human)	PMID:29960014|REF_RGD_ID:125097507
12158997	REN	renin	gene	DOID:1920	hyperuricemia		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperuricemia	
12158997	REN	renin	gene	DOID:2355	anemia		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3524928
12158997	REN	renin	gene	DOID:2527	nephrosis		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2046802|PMID:6358456
12158997	REN	renin	gene	DOID:3021	acute kidney failure	exacerbates	ISO	RGD:736366	D	RGD:9068941	20210402	RGD		Associated with toxic shock syndrome;protein:increased expression:blood plasma (human)	PMID:30407370|REF_RGD_ID:125097506
12158997	REN	renin	gene	DOID:326	ischemia		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3915608
12158997	REN	renin	gene	DOID:3388	periodontal disease	treatment	ISO	RGD:1332384	D	RGD:9068941	20210402	RGD		Associated with Diabetes Mellitus, experimental	PMID:31333451|REF_RGD_ID:125097482
12158997	REN	renin	gene	DOID:3650	lactic acidosis		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868
12158997	REN	renin	gene	DOID:423	myopathy		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy	PMID:25741868
12158997	REN	renin	gene	DOID:4362	cervical cancer		ISO	RGD:736366	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12158997	REN	renin	gene	DOID:445	Bartter disease		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15976003|PMID:3519017|PMID:929154
12158997	REN	renin	gene	DOID:446	primary hyperaldosteronism		ISO	RGD:736366	D	RGD:9068941	20210514	RGD		protein:increased activity:blood plasma (human)	PMID:15080782|REF_RGD_ID:126908012
12158997	REN	renin	gene	DOID:5082	liver cirrhosis		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15613622
12158997	REN	renin	gene	DOID:557	kidney disease		ISO	RGD:736366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	
12158997	REN	renin	gene	DOID:576	proteinuria		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2046802|PMID:464098
12158997	REN	renin	gene	DOID:5844	myocardial infarction		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1668233
12158997	REN	renin	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:736366	D	RGD:9068941	20200609	RGD		associated with Hypertension; protein:increased activity:plasma (human)	PMID:1759997|REF_RGD_ID:6892687
12158997	REN	renin	gene	DOID:6000	congestive heart failure		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1647690|PMID:20811386|PMID:7034517
12158997	REN	renin	gene	DOID:6000	congestive heart failure	exacerbates	ISO	RGD:736366	D	RGD:9068941	20210514	RGD		protein:increased activity:blood plasma (human)	PMID:17526990|REF_RGD_ID:126908011
12158997	REN	renin	gene	DOID:630	genetic disease		ISO	RGD:736366	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12158997	REN	renin	gene	DOID:687	hepatoblastoma		ISO	RGD:736366	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	PMID:25741868|PMID:28492532
12158997	REN	renin	gene	DOID:784	chronic kidney disease		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868
12158997	REN	renin	gene	DOID:8544	chronic fatigue syndrome		ISO	RGD:736366	D	RGD:9068941	20200609	RGD		associated with Postural Orthostatic Tachycardia Syndrome; protein:increased activity:plasma (human)	PMID:21906029|REF_RGD_ID:6892702
12158997	REN	renin	gene	DOID:8893	psoriasis		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3540694
12158997	REN	renin	gene	DOID:9000288	Chronic Intermittent Hypoxia		ISO	RGD:3554	D	RGD:9068941	20230817	RGD		mRNA:increased expression:kidney medulla (rat)	PMID:32416216|REF_RGD_ID:401793731
12158997	REN	renin	gene	DOID:9000445	Azotemia		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6338847
12158997	REN	renin	gene	DOID:9000590	Dyspnea		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyspnea	PMID:25741868
12158997	REN	renin	gene	DOID:9000784	Fibrosis		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12414515
12158997	REN	renin	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:3554	D	RGD:9068941	20230812	RGD		associated with hypertension	PMID:30127255|REF_RGD_ID:401793709
12158997	REN	renin	gene	DOID:9001234	Prenatal Exposure Delayed Effects	treatment	ISO	RGD:3554	D	RGD:9068941	20230817	RGD		associated with maternal adenine induced chronic kidney disease	PMID:32604820|REF_RGD_ID:401793718
12158997	REN	renin	gene	DOID:9001542	Albuminuria		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12414515|PMID:18679781
12158997	REN	renin	gene	DOID:9001725	Retina Reperfusion Injury	treatment	ISO	RGD:3554	D	RGD:9068941	20200609	RGD			PMID:24709336|REF_RGD_ID:11039406
12158997	REN	renin	gene	DOID:9001827	Critical Illness	exacerbates	ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (human)	PMID:30653055|REF_RGD_ID:125097479
12158997	REN	renin	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3554	D	RGD:9068941	20200609	RGD			PMID:15489960|REF_RGD_ID:1579795
12158997	REN	renin	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17537837
12158997	REN	renin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:1332384	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart, kidney (mouse)	PMID:15367398|REF_RGD_ID:6771378
12158997	REN	renin	gene	DOID:9003936	Cardiomegaly		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20429690|PMID:20811386
12158997	REN	renin	gene	DOID:9004303	Tubulointerstitial Fibrosis		ISO	RGD:736366	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tubulointerstitial fibrosis	
12158997	REN	renin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3554	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (rat)	PMID:22796710|REF_RGD_ID:6771379
12158997	REN	renin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18679781|PMID:8349331
12158997	REN	renin	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18829990
12158997	REN	renin	gene	DOID:9005721	Preeclamptic Toxemia		ISO	RGD:736366	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (human)	PMID:683663|REF_RGD_ID:125097480
12158997	REN	renin	gene	DOID:9005930	Endotoxemia		ISO	RGD:1332384	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (mouse)	PMID:30027346|REF_RGD_ID:125097481
12158997	REN	renin	gene	DOID:9005930	Endotoxemia		ISO	RGD:3554	D	RGD:9068941	20210402	RGD		protein:increased activity:blood plasma (rat)	PMID:16512638|REF_RGD_ID:125097499
12158997	REN	renin	gene	DOID:9006024	Hypotension		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11171655|PMID:3536153|PMID:6251761
12158997	REN	renin	gene	DOID:9006137	Renal Tubular Dysgenesis		ISO	RGD:736366	D	RGD:7240710	20180130	OMIM			
12158997	REN	renin	gene	DOID:9006137	Renal Tubular Dysgenesis		ISO	RGD:736366	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: RENAL TUBULAR DYSGENESIS | ClinVar Annotator: match by term: Renal tubular dysgenesis | ClinVar Annotator: match by term: Renal tubular dysgenesis of genetic origin | ClinVar Annotator: match by term: Renotubular dysgenesis	PMID:16116425|PMID:16199547|PMID:22095942|PMID:25741868|PMID:28492532|PMID:32750457
12158997	REN	renin	gene	DOID:9006635	Hyponatremia		ISO	RGD:3554	D	RGD:9068941	20210402	RGD		protein: increased activity:blood plasma (rat)	PMID:25841323|REF_RGD_ID:125097503
12158997	REN	renin	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8723173
12158997	REN	renin	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:3554	D	RGD:9068941	20200609	RGD			PMID:8446257|REF_RGD_ID:11039400
12158997	REN	renin	gene	DOID:9008217	Hemorrhage		ISO	RGD:736366	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:6991409
12158997	REN	renin	gene	DOID:9970	obesity		ISO	RGD:736366	D	RGD:9068941	20200609	RGD		mRNA:increased expression:abdomen, subcutaneous adipose tissue, mesenchymal stem cell (human)	PMID:22648117|REF_RGD_ID:6784503
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:0051034	primary autosomal recessive microcephaly 23		ISO	RGD:1352198	D	RGD:7240710	20190315	OMIM			
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:0051034	primary autosomal recessive microcephaly 23		ISO	RGD:1352198	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Microcephaly 23, primary, autosomal recessive | ClinVar Annotator: match by term: NCAPH-related condition	PMID:25741868
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:0080600	COVID-19		ISO	RGD:1352198	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:10534	stomach cancer		ISO	RGD:1352198	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:1324	lung cancer		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:1909	melanoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:3070	high grade glioma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1352198	D	RGD:9068941	20220225	RGD		protein:decreased expression:lung (human)	PMID:32945371|REF_RGD_ID:151356931
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:4362	cervical cancer		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159018	NCAPH	non-SMC condensin I complex subunit H	gene	DOID:9256	colorectal cancer		ISO	RGD:1352198	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081420	familial focal epilepsy with variable foci		ISO	RGD:1318978	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Familial focal epilepsy with variable foci	PMID:25741868
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081421	familial focal epilepsy with variable foci 1		ISO	RGD:1318978	D	RGD:9068941	20240203	CTD		CTD Direct Evidence: marker/mechanism	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:7240710	20190315	OMIM			
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:0081422	familial focal epilepsy with variable foci 2		ISO	RGD:1318978	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 | ClinVar Annotator: match by term: Epilepsy, familial focal, with variable foci 2 | ClinVar Annotator: match by term: NPRL2-related condition	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:28492532|PMID:30093711|PMID:31639411|PMID:33461085
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1318978	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:1826	epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:1909	melanoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:5419	schizophrenia		ISO	RGD:1318978	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21822266
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:630	genetic disease		ISO	RGD:1318978	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26505888|PMID:27173016|PMID:28199897|PMID:30093711|PMID:31639411|PMID:33461085
12159047	NPRL2	NPR2 like, GATOR1 complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318978	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:0080600	COVID-19		ISO	RGD:1353757	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:10534	stomach cancer		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:3275	thymoma		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:4362	cervical cancer		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1353757	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:9008341	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY		ISO	RGD:1353757	D	RGD:7240710	20210421	OMIM			
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:9008341	SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY		ISO	RGD:1353757	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY	
12159064	SQOR	sulfide quinone oxidoreductase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353757	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159084	MYO5A	myosin VA	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159084	MYO5A	myosin VA	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159084	MYO5A	myosin VA	gene	DOID:0060832	Griscelli syndrome type 1		ISO	RGD:731453	D	RGD:7240710	20180130	OMIM			
12159084	MYO5A	myosin VA	gene	DOID:0060832	Griscelli syndrome type 1		ISO	RGD:731453	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: GRISCELLI SYNDROME, TYPE 1 | ClinVar Annotator: match by term: Griscelli syndrome type 1 | ClinVar Annotator: match by term: Griscelli syndrome, cutaneous and neurologic type | ClinVar Annotator: match by term: MYO5A-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12159084	MYO5A	myosin VA	gene	DOID:10534	stomach cancer		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159084	MYO5A	myosin VA	gene	DOID:1059	intellectual disability		ISO	RGD:731453	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12159084	MYO5A	myosin VA	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159084	MYO5A	myosin VA	gene	DOID:1115	sarcoma		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159084	MYO5A	myosin VA	gene	DOID:1612	breast cancer		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12159084	MYO5A	myosin VA	gene	DOID:1826	epilepsy		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12159084	MYO5A	myosin VA	gene	DOID:1909	melanoma		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159084	MYO5A	myosin VA	gene	DOID:3070	high grade glioma		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12159084	MYO5A	myosin VA	gene	DOID:3275	thymoma		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159084	MYO5A	myosin VA	gene	DOID:4362	cervical cancer		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159084	MYO5A	myosin VA	gene	DOID:5041	esophageal cancer		ISO	RGD:731453	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159084	MYO5A	myosin VA	gene	DOID:543	dystonia		ISO	RGD:731453	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	
12159084	MYO5A	myosin VA	gene	DOID:574	peripheral nervous system disease		ISO	RGD:731453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12159084	MYO5A	myosin VA	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159084	MYO5A	myosin VA	gene	DOID:630	genetic disease		ISO	RGD:731453	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12159084	MYO5A	myosin VA	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12159084	MYO5A	myosin VA	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:731453	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12159084	MYO5A	myosin VA	gene	DOID:9005835	Congenital Abnormalities	no_association	ISO	RGD:731453	D	RGD:9068941	20200609	RGD		Griscelli syndrome type I. OMIM:214450	PMID:12058346|REF_RGD_ID:1600821
12159084	MYO5A	myosin VA	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159084	MYO5A	myosin VA	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731453	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay | ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12159084	MYO5A	myosin VA	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159084	MYO5A	myosin VA	gene	DOID:9650	pathologic nystagmus		ISO	RGD:731453	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	
12159133	LIPC	lipase C, hepatic type	gene	DOID:0110741	type 1 diabetes mellitus 2		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 2	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:32041611|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:10534	stomach cancer		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159133	LIPC	lipase C, hepatic type	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6084 (human)	PMID:17175070|REF_RGD_ID:1600644
12159133	LIPC	lipase C, hepatic type	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs6074, rs6083, rs6084 (human)	PMID:17175070|REF_RGD_ID:1600644
12159133	LIPC	lipase C, hepatic type	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:28492532|PMID:36325899
12159133	LIPC	lipase C, hepatic type	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:11801	protein-energy malnutrition		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:reduced expression:plasma (rat)	PMID:7666262|REF_RGD_ID:2308792
12159133	LIPC	lipase C, hepatic type	gene	DOID:1184	nephrotic syndrome		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein, mRNA:reduced expression:liver (rat)	PMID:9186885|REF_RGD_ID:2308789
12159133	LIPC	lipase C, hepatic type	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:reduced expression:serum (rat)	PMID:14531811|REF_RGD_ID:2308781
12159133	LIPC	lipase C, hepatic type	gene	DOID:13809	familial combined hyperlipidemia		ISO	RGD:736877	D	RGD:9068941	20200609	RGD			PMID:16338252|REF_RGD_ID:1580512
12159133	LIPC	lipase C, hepatic type	gene	DOID:1459	hypothyroidism		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		mRNA, protein:reduced expression:hepatocyte, extracellular space (rat)	PMID:9106496|REF_RGD_ID:2308790
12159133	LIPC	lipase C, hepatic type	gene	DOID:1459	hypothyroidism		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:reduced expression:plasma (rat)	PMID:12841343|REF_RGD_ID:2308783
12159133	LIPC	lipase C, hepatic type	gene	DOID:2018	hyperinsulinism		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)	PMID:7047662|REF_RGD_ID:2308800
12159133	LIPC	lipase C, hepatic type	gene	DOID:2018	hyperinsulinism		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:plasma (human)	PMID:11095452|PMID:1592086|REF_RGD_ID:2308794|REF_RGD_ID:2308844
12159133	LIPC	lipase C, hepatic type	gene	DOID:2237	hepatitis		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:reduced expression:plasma (rat)	PMID:7078435|REF_RGD_ID:2308799
12159133	LIPC	lipase C, hepatic type	gene	DOID:3146	lipid metabolism disorder		ISO	RGD:736877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292318|PMID:1671786|PMID:1883393
12159133	LIPC	lipase C, hepatic type	gene	DOID:326	ischemia		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver (rat)	PMID:1918876|REF_RGD_ID:2308796
12159133	LIPC	lipase C, hepatic type	gene	DOID:3275	thymoma		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159133	LIPC	lipase C, hepatic type	gene	DOID:3393	coronary artery disease		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		250G/A	PMID:15099346|REF_RGD_ID:1600663
12159133	LIPC	lipase C, hepatic type	gene	DOID:3393	coronary artery disease		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-480C>T (human)	PMID:11916946|REF_RGD_ID:2308839
12159133	LIPC	lipase C, hepatic type	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		C514T	PMID:12689525|REF_RGD_ID:1600664
12159133	LIPC	lipase C, hepatic type	gene	DOID:3393	coronary artery disease	susceptibility	ISO	RGD:736877	D	RGD:9068941	20230629	RGD		DNA:SNP,haplotypes: (rs17269397)A>G (human)	PMID:33004870|REF_RGD_ID:329901841
12159133	LIPC	lipase C, hepatic type	gene	DOID:341	peripheral vascular disease		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-250G>A (human)	PMID:18413186|REF_RGD_ID:2308822
12159133	LIPC	lipase C, hepatic type	gene	DOID:4362	cervical cancer		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159133	LIPC	lipase C, hepatic type	gene	DOID:557	kidney disease	resistance	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; DNA:transition:promoter:-514C>T (human)	PMID:16928730|REF_RGD_ID:2308823
12159133	LIPC	lipase C, hepatic type	gene	DOID:557	kidney disease	susceptibility	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; DNA:transition:promoter:-514C>T (human)	PMID:15983323|REF_RGD_ID:2308828
12159133	LIPC	lipase C, hepatic type	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159133	LIPC	lipase C, hepatic type	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12159133	LIPC	lipase C, hepatic type	gene	DOID:783	end stage renal disease		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein, mRNA:decreased expression:hepatocytes, liver (rat)	PMID:8636395|REF_RGD_ID:2308788
12159133	LIPC	lipase C, hepatic type	gene	DOID:9000528	Coronary Disease	susceptibility	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)	PMID:16570154|REF_RGD_ID:2308824
12159133	LIPC	lipase C, hepatic type	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:10871	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:decreased expression:liver (mouse)	PMID:11279518|REF_RGD_ID:2308841
12159133	LIPC	lipase C, hepatic type	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein, mRNA:decreased expression:plasma, liver (rat)	PMID:7830494|REF_RGD_ID:2308793
12159133	LIPC	lipase C, hepatic type	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:decreased expression:plasma (human)	PMID:6340423|REF_RGD_ID:2308850
12159133	LIPC	lipase C, hepatic type	gene	DOID:9001542	Albuminuria		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)	PMID:8666151|REF_RGD_ID:2308836
12159133	LIPC	lipase C, hepatic type	gene	DOID:9002427	Fetal Macrosomia		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)	PMID:10600655|REF_RGD_ID:2308786
12159133	LIPC	lipase C, hepatic type	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:reduced expression:plasma (rat)	PMID:10844597|REF_RGD_ID:2308785
12159133	LIPC	lipase C, hepatic type	gene	DOID:9004484	Sepsis		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:decreased expression:diaphragm, heart, adipose tissue (rat)	PMID:2113037|REF_RGD_ID:2308797
12159133	LIPC	lipase C, hepatic type	gene	DOID:9005519	Hyperlipoproteinemia Type II		ISO	RGD:736877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16030523
12159133	LIPC	lipase C, hepatic type	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:decreased activity:liver (rat)	PMID:1868959|PMID:18758746|REF_RGD_ID:2307432|REF_RGD_ID:2308849
12159133	LIPC	lipase C, hepatic type	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)	PMID:187516|REF_RGD_ID:2308846
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007137	Hepatic Lipase Deficiency		ISO	RGD:736877	D	RGD:7240710	20180130	OMIM			
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007137	Hepatic Lipase Deficiency		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEPATIC LIPASE DEFICIENCY | ClinVar Annotator: match by term: Hyperlipidemia due to hepatic triglyceride lipase deficiency	PMID:12777476|PMID:1671786|PMID:17576681|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:28951076|PMID:30333156|PMID:32041611|PMID:33339817|PMID:34662886|PMID:36325899|PMID:8123642|PMID:8732782|PMID:9536098
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007279	Type 2 Diabetes Mellitus 1		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 1 diabetes mellitus 2	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:3009	D	RGD:9068941	20230831	RGD		mRNA:decreased expression:liver (rat)	PMID:28959666|REF_RGD_ID:401794432
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		associated with Nephrosis; protein:decreased expression:plasma (rat)	PMID:6480830|REF_RGD_ID:2308798
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:736877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18160998
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)	PMID:11427226|REF_RGD_ID:2308834
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007571	Hyperlipoproteinemias		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)	PMID:15941898|REF_RGD_ID:2308829
12159133	LIPC	lipase C, hepatic type	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15504970
12159133	LIPC	lipase C, hepatic type	gene	DOID:9009039	Hyperemia		ISO	RGD:736877	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330034
12159133	LIPC	lipase C, hepatic type	gene	DOID:9351	diabetes mellitus		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736877	D	RGD:7240710	20180130	OMIM			
12159133	LIPC	lipase C, hepatic type	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus | ClinVar Annotator: match by term: Type II diabetes mellitus	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:32041611|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:736877	D	RGD:9068941	20200609	RGD		DNA:transition:promoter:-250G>A (human)	PMID:15656877|REF_RGD_ID:2308830
12159133	LIPC	lipase C, hepatic type	gene	DOID:9452	steatotic liver disease		ISO	RGD:736877	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:12777476|PMID:1671786|PMID:1883393|PMID:21986251|PMID:23685560|PMID:24033266|PMID:24497850|PMID:24633158|PMID:25741868|PMID:25995285|PMID:28492532|PMID:28870971|PMID:30333156|PMID:8123642|PMID:8732782
12159133	LIPC	lipase C, hepatic type	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:9580247|REF_RGD_ID:2308845
12159133	LIPC	lipase C, hepatic type	gene	DOID:9970	obesity		ISO	RGD:3009	D	RGD:9068941	20200609	RGD		protein:altered expression:liver, plasma (rat)	PMID:11544558|REF_RGD_ID:2308784
12159133	LIPC	lipase C, hepatic type	gene	DOID:9970	obesity		ISO	RGD:736877	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased expression:plasma (human)	PMID:12843191|REF_RGD_ID:2308835
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:0111216	autosomal recessive centronuclear myopathy		ISO	RGD:734132	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:0111222	centronuclear myopathy 5		ISO	RGD:734132	D	RGD:7240710	20180130	OMIM			
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:0111222	centronuclear myopathy 5		ISO	RGD:734132	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CENTRONUCLEAR MYOPATHY 5 | ClinVar Annotator: match by term: Myopathy, centronuclear, 5 | ClinVar Annotator: match by term: SPEG-related condition | ClinVar Annotator: match by term: SPEG-related congenital myopathy	PMID:16199547|PMID:19118250|PMID:25087613|PMID:25741868|PMID:28492532|PMID:29614691
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:10534	stomach cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:1115	sarcoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:1909	melanoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:3070	high grade glioma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:3275	thymoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:4362	cervical cancer		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:734132	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	PMID:25741868
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:630	genetic disease		ISO	RGD:734132	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:734132	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159147	SPEG	striated muscle enriched protein kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734132	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:10534	stomach cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:1115	sarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:1324	lung cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:3275	thymoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1323690	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary cancer	PMID:25741868
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159222	RBBP6	RB binding protein 6, ubiquitin ligase	gene	DOID:9256	colorectal cancer		ISO	RGD:1323690	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:0050567	orofacial cleft		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Orofacial cleft	PMID:25741868
12159260	RBM15	RNA binding motif protein 15	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:769	neuroblastoma		ISO	RGD:1343999	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEUROBLASTOMA	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159260	RBM15	RNA binding motif protein 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:10534	stomach cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:1115	sarcoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:1909	melanoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:4362	cervical cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159266	SSX2IP	SSX family member 2 interacting protein	gene	DOID:9256	colorectal cancer		ISO	RGD:736522	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315023	D	RGD:9068941	20220825	MouseDO			
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:0081212	autosomal recessive intellectual developmental disorder 48		ISO	RGD:1315022	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	PMID:25741868
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:7240710	20190315	OMIM			
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:0081220	autosomal recessive intellectual developmental disorder 58		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ELP2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 58	PMID:25741868|PMID:28492532
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:10534	stomach cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual Disability, Recessive | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, profound	PMID:25741868
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1059	intellectual disability		ISO	RGD:1315022	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability, profound	PMID:21937992|PMID:25356970|PMID:25741868|PMID:25847581|PMID:28492532|PMID:28726809|PMID:32573669|PMID:33393008|PMID:33510603|PMID:33976153|PMID:34653680
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1115	sarcoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:12849	autistic disorder		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:1909	melanoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:2841	asthma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:3070	high grade glioma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:4362	cervical cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1315022	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1315022	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9005077	Joint Instability		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159296	ELP2	elongator acetyltransferase complex subunit 2	gene	DOID:9834	hyperopia		ISO	RGD:1315022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:25847581|PMID:33976153
12159322	JUP	junction plakoglobin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159322	JUP	junction plakoglobin	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:16467215|PMID:19863551|PMID:23861362|PMID:24033266|PMID:24503780|PMID:25741868|PMID:25765472|PMID:27532257|PMID:28492532|PMID:29802319|PMID:32789579
12159322	JUP	junction plakoglobin	gene	DOID:0060480	left ventricular noncompaction		ISO	RGD:732396	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction	PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962
12159322	JUP	junction plakoglobin	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:12635138|REF_RGD_ID:2301747
12159322	JUP	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:7240710	20180130	OMIM			
12159322	JUP	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR	PMID:10902626|PMID:16199547|PMID:16467215|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28098346|PMID:28166811|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:34011629|PMID:34026867|PMID:35581137|PMID:9536098
12159322	JUP	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Naxos disease | ClinVar Annotator: match by term: WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES	PMID:10902626|PMID:16199547|PMID:16467215|PMID:16722579|PMID:17576681|PMID:18672408|PMID:18937352|PMID:19067702|PMID:19863551|PMID:20031617|PMID:20130592|PMID:20152563|PMID:20525856|PMID:20857253|PMID:20864495|PMID:21320868|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23299917|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24238504|PMID:24503780|PMID:24704780|PMID:24884844|PMID:25351510|PMID:25363760|PMID:25363768|PMID:25445213|PMID:25616645|PMID:25741868|PMID:25765472|PMID:25820315|PMID:26073755|PMID:26220970|PMID:26230511|PMID:26272908|PMID:27005929|PMID:27037756|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27707468|PMID:27930701|PMID:28098346|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29606362|PMID:29619247|PMID:29892012|PMID:30206291|PMID:30453078|PMID:30615648|PMID:30775854|PMID:30802431|PMID:30844837|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32268277|PMID:32746448|PMID:32880476|PMID:33500567|PMID:33673806|PMID:33919104|PMID:34011629|PMID:34026867|PMID:34076677|PMID:34500006|PMID:35087879|PMID:35091851|PMID:35581137|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37418234|PMID:37477868|PMID:38254962|PMID:9536098
12159322	JUP	junction plakoglobin	gene	DOID:0080551	Naxos disease		ISO	RGD:732396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES | ClinVar Annotator: match by term: Mal de Naxos | ClinVar Annotator: match by term: NAXOS DISEASE | ClinVar Annotator: match by term: Naxos disease	PMID:10902626|PMID:16467215|PMID:17576681|PMID:19863551|PMID:20130592|PMID:20864495|PMID:21606396|PMID:21668431|PMID:21859740|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:25351510|PMID:25363760|PMID:25741868|PMID:25765472|PMID:26220970|PMID:27037756|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29802319|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30844837|PMID:30847666|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32212272|PMID:32233023|PMID:32789579|PMID:32880476|PMID:33919104|PMID:34076677|PMID:34500006|PMID:35091851|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37198425|PMID:37418234|PMID:38254962|PMID:39180012|PMID:40233161|PMID:9536098
12159322	JUP	junction plakoglobin	gene	DOID:0110083	arrhythmogenic right ventricular dysplasia 12		ISO	RGD:732396	D	RGD:7240710	20180130	OMIM			
12159322	JUP	junction plakoglobin	gene	DOID:0110083	arrhythmogenic right ventricular dysplasia 12		ISO	RGD:732396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12 | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 12 | ClinVar Annotator: match by term: JUP-related disorder	PMID:10902626|PMID:16199547|PMID:16467215|PMID:16722579|PMID:17576681|PMID:18937352|PMID:19863551|PMID:20864495|PMID:21606396|PMID:21859740|PMID:23396983|PMID:23861362|PMID:24033266|PMID:24125834|PMID:24503780|PMID:24704780|PMID:25351510|PMID:25363760|PMID:25445213|PMID:25741868|PMID:25765472|PMID:26220970|PMID:26272908|PMID:27157848|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28341588|PMID:28416588|PMID:28471438|PMID:28492532|PMID:28600387|PMID:28798025|PMID:28831623|PMID:28855170|PMID:29247119|PMID:29334134|PMID:29350269|PMID:29517769|PMID:29619247|PMID:29802319|PMID:30206291|PMID:30453078|PMID:30775854|PMID:30844837|PMID:30847666|PMID:31275992|PMID:31402444|PMID:31539150|PMID:31568572|PMID:31737537|PMID:31983221|PMID:32233023|PMID:32789579|PMID:32880476|PMID:33303784|PMID:33919104|PMID:34076677|PMID:34500006|PMID:35091851|PMID:36008935|PMID:36178741|PMID:36788754|PMID:37198425|PMID:37418234|PMID:37477868|PMID:37614113|PMID:37781308|PMID:38254962|PMID:39180012|PMID:9536098
12159322	JUP	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:28166811|PMID:28492532|PMID:28831623
12159322	JUP	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:24033266|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623
12159322	JUP	junction plakoglobin	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:38254962
12159322	JUP	junction plakoglobin	gene	DOID:10283	prostate cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA,mRNA,protein:loss of heterozygosity, decreased expression:tumor:relative to either BPH or normal prostate	PMID:15781623|REF_RGD_ID:2291864
12159322	JUP	junction plakoglobin	gene	DOID:10283	prostate cancer	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:significantly associated with capsular invasion (p=0.007 for all cases, p=0.015 for cases with Gleason score 5-7)	PMID:10206308|REF_RGD_ID:2291876
12159322	JUP	junction plakoglobin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159322	JUP	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:significant association with tumor grade and stage (p < 0.001)	PMID:17363521|REF_RGD_ID:2289818
12159322	JUP	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	disease_progression	ISO	RGD:732397	D	RGD:9068941	20200609	RGD		DNA, protein:mutations, increased expression:urinary bladder	PMID:11585741|REF_RGD_ID:2301748
12159322	JUP	junction plakoglobin	gene	DOID:11054	urinary bladder cancer	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:altered localization:tumor:loss of membrane expression associated with higher grade (p<0.05), higher stage (p<0.05), and poor survival (p<0.05)	PMID:9783980|REF_RGD_ID:2291880
12159322	JUP	junction plakoglobin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:20031617|PMID:20857253|PMID:21859740|PMID:23861362|PMID:24033266|PMID:25616645|PMID:25741868|PMID:25820315|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28471438|PMID:28492532|PMID:28831623|PMID:31402444|PMID:31983221|PMID:32233023|PMID:34026867|PMID:35581137|PMID:38254962
12159322	JUP	junction plakoglobin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:21859740|PMID:23861362|PMID:25741868|PMID:27532257|PMID:27662471|PMID:27930701|PMID:28492532|PMID:28831623|PMID:31983221|PMID:32233023|PMID:38254962
12159322	JUP	junction plakoglobin	gene	DOID:1380	endometrial cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:endometrium	PMID:12635138|REF_RGD_ID:2301747
12159322	JUP	junction plakoglobin	gene	DOID:161	keratosis		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: keratosis	
12159322	JUP	junction plakoglobin	gene	DOID:2154	nephroblastoma	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD			PMID:17633921|REF_RGD_ID:2301745
12159322	JUP	junction plakoglobin	gene	DOID:2394	ovarian cancer		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition	PMID:7604000|REF_RGD_ID:2291881
12159322	JUP	junction plakoglobin	gene	DOID:2843	long QT syndrome		ISO	RGD:732396	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:27727376|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:3008	invasive ductal carcinoma	disease_progression	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:associated with higher Robinson grade (p=0.016) and lymph node metastases (p=0.012)	PMID:16610682|REF_RGD_ID:2291882
12159322	JUP	junction plakoglobin	gene	DOID:3390	palmoplantar keratosis		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Naxos disease, OMIM:601214    DNA:deletion:CDS:2157delTG	PMID:10902626|REF_RGD_ID:1600286
12159322	JUP	junction plakoglobin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:732396	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023
12159322	JUP	junction plakoglobin	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:732396	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:25741868|PMID:27532257|PMID:28492532|PMID:31983221|PMID:32233023
12159322	JUP	junction plakoglobin	gene	DOID:409	liver disease		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12159322	JUP	junction plakoglobin	gene	DOID:4440	seminoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:relative to normal tissue (p<0.01)	PMID:11956097|REF_RGD_ID:2291872
12159322	JUP	junction plakoglobin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:increased methylation:promoter:significantly increased methylation vs normal kidney (p < 0.01)	PMID:15701841|REF_RGD_ID:2291866
12159322	JUP	junction plakoglobin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:relative to normal kidney (p<0.001), higher expression associated with better survival rate (p<0.05)	PMID:9891472|REF_RGD_ID:2291890
12159322	JUP	junction plakoglobin	gene	DOID:4603	epidermolytic hyperkeratosis		ISO	RGD:732397	D	RGD:9068941	20220825	MouseDO		OMIM:113800	
12159322	JUP	junction plakoglobin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159322	JUP	junction plakoglobin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159322	JUP	junction plakoglobin	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732396	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:24033266|PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:9000457	Germ Cell and Embryonal Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:14670177|REF_RGD_ID:2301235
12159322	JUP	junction plakoglobin	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:732396	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134|PMID:29350269
12159322	JUP	junction plakoglobin	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		associated with Ovarian Neoplasms	PMID:15619205|REF_RGD_ID:2301746
12159322	JUP	junction plakoglobin	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12159322	JUP	junction plakoglobin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:732396	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:23861362|PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:732396	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:26220970|PMID:28492532|PMID:29334134|PMID:29350269
12159322	JUP	junction plakoglobin	gene	DOID:9005527	No-Reflow Phenomenon		ISO	RGD:732396	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16824628
12159322	JUP	junction plakoglobin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Naxos disease, OMIM:601214    DNA:deletion:CDS:2157delTG	PMID:10902626|REF_RGD_ID:1600286
12159322	JUP	junction plakoglobin	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:12881063|RGD:13617113	D	RGD:9068941	20260813	ClinVar		ClinVar Annotator: match by term: LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS | ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest	PMID:25741868|PMID:28492532
12159322	JUP	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:732396	D	RGD:9068941	20200609	RGD		DNA:loss of heterozygosity:tumor:in individuals carrying the BRCA1 predisposition	PMID:7604000|REF_RGD_ID:2291881
12159322	JUP	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms	no_association	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		Protein::tumor:normal expression in both T1 and T2 tumors	PMID:17008277|REF_RGD_ID:2291883
12159322	JUP	junction plakoglobin	gene	DOID:9008939	Breast Neoplasms	severity	ISO	RGD:732396	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor, cell membrane:significantly associated with relapse-free and overall survival (p=0.029 and 0.020, respectively)	PMID:11276001|REF_RGD_ID:2291873
12159322	JUP	junction plakoglobin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732396	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:1909	melanoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:4362	cervical cancer		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344091	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:6039	uveal melanoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159348	APLF	aprataxin and PNKP like factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344091	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:10534	stomach cancer		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:12849	autistic disorder		ISO	RGD:1315730	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:1909	melanoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159365	BRPF3	bromodomain and PHD finger containing 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315730	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:10534	stomach cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:10907	microcephaly		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1115	sarcoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:11714	gestational diabetes		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1324	lung cancer		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1826	epilepsy		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:1909	melanoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:3275	thymoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:540	strabismus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:83	cataract		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9002969	Nevus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9003132	Sialorrhea		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9003507	Premature Birth		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanocytic nevus	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005811	HUPRA Syndrome		ISO	RGD:1319808	D	RGD:7240710	20180130	OMIM			
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9005811	HUPRA Syndrome		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: SARS2-related condition	PMID:17576681|PMID:21255763|PMID:24034276|PMID:25741868|PMID:27279129|PMID:28492532|PMID:31607746|PMID:33751860|PMID:33972171|PMID:34407605|PMID:38326069|PMID:9536098
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159384	SARS2	seryl-tRNA synthetase 2, mitochondrial	gene	DOID:9007661	Dwarfism		ISO	RGD:1319808	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12159448	DDX4	DEAD-box helicase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:1115	sarcoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:12336	male infertility		ISO	RGD:1318770	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Male infertility	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12159448	DDX4	DEAD-box helicase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318770	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:1324	lung cancer		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159476	SETD6	SET domain containing 6, protein lysine methyltransferase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605343	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159491	BTG3	BTG anti-proliferation factor 3	gene	DOID:13580	cholestasis		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12159491	BTG3	BTG anti-proliferation factor 3	gene	DOID:4450	renal cell carcinoma		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19221000
12159491	BTG3	BTG anti-proliferation factor 3	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:733952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1607086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18850583
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:1607086	D	RGD:9068941	20220324	RGD		protein:increased expression:mucosa of oral region (human)	PMID:24743017|REF_RGD_ID:151665336
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:1607086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:0080365	endometrial hyperplasia		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	PMID:16080017|REF_RGD_ID:2315043
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD			PMID:19450994|REF_RGD_ID:2315029
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:10286	prostate carcinoma		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD			PMID:12670908|REF_RGD_ID:2315046
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:1324	lung cancer		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1607086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18451165
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:1612	breast cancer		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:19350629|REF_RGD_ID:2315035
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:1909	melanoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:15351619|REF_RGD_ID:2315044
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD			PMID:18922157|REF_RGD_ID:2315038
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:	PMID:12107105|REF_RGD_ID:13825152
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1562456	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19533683|REF_RGD_ID:2315050
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12717389
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:8991	cervix uteri carcinoma in situ	severity	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		associated with Papillomavirus Infections	PMID:19094580|REF_RGD_ID:2315036
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms;protein:increased expression:endometrium	PMID:16080017|REF_RGD_ID:2315043
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:1562456	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19852587|REF_RGD_ID:2315049
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1607086	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19636294
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD			PMID:16525656|REF_RGD_ID:2315042
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		DNA, mRNA:amplification, increased expression:uterine cervix	PMID:18559093|REF_RGD_ID:2302384
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9003373	Uterine Cervical Neoplasms	disease_progression	ISO	RGD:1607086	D	RGD:9068941	20200609	RGD		associated with Papillomavirus Infections	PMID:19094580|REF_RGD_ID:2315036
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9005882	Spine Osteoarthritis		ISO	RGD:1607086	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34697729
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1607086	D	RGD:9068941	20200609	RGD			PMID:15220466|REF_RGD_ID:2315045
12159505	SKP2	S-phase kinase associated protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1607086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159519	TRIM9	tripartite motif containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159519	TRIM9	tripartite motif containing 9	gene	DOID:1324	lung cancer		ISO	RGD:736868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159519	TRIM9	tripartite motif containing 9	gene	DOID:4362	cervical cancer		ISO	RGD:736868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159519	TRIM9	tripartite motif containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159556	AXIN2	axin 2	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression:mucosa:	PMID:11809809|REF_RGD_ID:151356508
12159556	AXIN2	axin 2	gene	DOID:0050567	orofacial cleft		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:cds:rs2240308(p.P50S)(human)	PMID:19119171|REF_RGD_ID:151356509
12159556	AXIN2	axin 2	gene	DOID:0050591	tooth agenesis		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:15042511|PMID:21416598|PMID:25637381|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	ameliorates	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:33046030|REF_RGD_ID:151356656
12159556	AXIN2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:33046030|REF_RGD_ID:151356656
12159556	AXIN2	axin 2	gene	DOID:0050866	oral squamous cell carcinoma	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20211217	RGD		DNA:SNP:intron: C>T (rs3923087)(human)	PMID:21393552|REF_RGD_ID:150530486
12159556	AXIN2	axin 2	gene	DOID:0050912	colon adenoma		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression::	PMID:11809809|REF_RGD_ID:151356508
12159556	AXIN2	axin 2	gene	DOID:0080199	colorectal carcinoma		ISO	RGD:1349667	D	RGD:9068941	20260521	RGD		protein,RNA:increased expression:colorectum:	PMID:23702820|REF_RGD_ID:151356501
12159556	AXIN2	axin 2	gene	DOID:0110092	short-rib thoracic dysplasia 6 with or without polydactyly		ISO	RGD:1349667	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 6 with or without polydactyly	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J		ISO	RGD:1349667	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2J	PMID:25741868|PMID:26467025|PMID:27153395|PMID:27854218|PMID:28492532|PMID:28577310|PMID:28944238|PMID:29212164
12159556	AXIN2	axin 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12159556	AXIN2	axin 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:69259	D	RGD:9068941	20220217	RGD		protein:decreased expression:lung	PMID:33092439|REF_RGD_ID:151356921
12159556	AXIN2	axin 2	gene	DOID:1324	lung cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159556	AXIN2	axin 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:exon:148T>C(rs2240308)(human)	PMID:25091576|REF_RGD_ID:151356659
12159556	AXIN2	axin 2	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNPs:exons,introns:	PMID:28378643|REF_RGD_ID:151356504
12159556	AXIN2	axin 2	gene	DOID:13714	anodontia		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Non-syndromic oligodontia	
12159556	AXIN2	axin 2	gene	DOID:14330	Parkinson's disease	ameliorates	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:31078578|REF_RGD_ID:151356747
12159556	AXIN2	axin 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:1520	colon carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colon carcinoma | ClinVar Annotator: match by term: Colonic carcinoma	PMID:21472303|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29641532|PMID:37231433
12159556	AXIN2	axin 2	gene	DOID:1612	breast cancer		ISO	RGD:1349667	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Malignant breast neoplasm	PMID:21541676|PMID:25236910|PMID:26467025|PMID:28492532|PMID:29114927|PMID:29641532|PMID:33558524
12159556	AXIN2	axin 2	gene	DOID:1826	epilepsy		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:2121	ectodermal dysplasia		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ectodermal dysplasia	PMID:15042511|PMID:17373666|PMID:21159886|PMID:21416598|PMID:21626677|PMID:25236910|PMID:25741868|PMID:27993330|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:219	colon cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon cancer	PMID:15042511|PMID:16199547|PMID:21416598|PMID:25741868|PMID:28492532|PMID:29625052
12159556	AXIN2	axin 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:31650542|REF_RGD_ID:151356749
12159556	AXIN2	axin 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12159556	AXIN2	axin 2	gene	DOID:2340	craniosynostosis		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Craniosynostosis	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:2841	asthma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:2870	endometrial adenocarcinoma		ISO	RGD:733705	D	RGD:9068941	20200609	RGD			PMID:11940574|REF_RGD_ID:13432156
12159556	AXIN2	axin 2	gene	DOID:3121	gallbladder cancer	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP::s4791171(human)	PMID:26715268|REF_RGD_ID:151356500
12159556	AXIN2	axin 2	gene	DOID:3275	thymoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159556	AXIN2	axin 2	gene	DOID:3459	breast carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:25741868|PMID:26467025|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220211	RGD		DNA:SNPs::1712 +19 G>A,148 C>T(human)	PMID:30346805|REF_RGD_ID:151356655
12159556	AXIN2	axin 2	gene	DOID:3910	lung adenocarcinoma	susceptibility	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP:cds:p.P50S(human)	PMID:16820935|REF_RGD_ID:151356657
12159556	AXIN2	axin 2	gene	DOID:5409	lung small cell carcinoma	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220211	RGD		DNA:SNP::1386 C>T(human)	PMID:30346805|REF_RGD_ID:151356655
12159556	AXIN2	axin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159556	AXIN2	axin 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159556	AXIN2	axin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159556	AXIN2	axin 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		protein:increased expression:liver:	PMID:11809809|REF_RGD_ID:151356508
12159556	AXIN2	axin 2	gene	DOID:9000156	Metaplasia		ISO	RGD:735540	D	RGD:9068941	20200609	RGD		associated with Granulosa Cell Tumor;mRNA:increased expression:ovary	PMID:16488995|REF_RGD_ID:1643593
12159556	AXIN2	axin 2	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:21935365|REF_RGD_ID:9685370
12159556	AXIN2	axin 2	gene	DOID:9001642	Intestinal Polyps		ISO	RGD:735540	D	RGD:9068941	20220210	RGD		protein:increased expression:small intestinal polyps:	PMID:11809809|REF_RGD_ID:151356508
12159556	AXIN2	axin 2	gene	DOID:9001733	Tinnitus		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9001820	Pulmonary Arterial Hypertension	exacerbates	ISO	RGD:69259	D	RGD:9068941	20220217	RGD			PMID:28694128|REF_RGD_ID:151356920
12159556	AXIN2	axin 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
12159556	AXIN2	axin 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12159556	AXIN2	axin 2	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:27854218|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36502525|PMID:36672847|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28265457|PMID:28492532|PMID:28569743|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:31874108|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34817745|PMID:35014770|PMID:35904628|PMID:35957908|PMID:36071541|PMID:36502525|PMID:36672847|PMID:37231433|PMID:37762649|PMID:37891325|PMID:38136308|PMID:38170500|PMID:38509102|PMID:38566764|PMID:38887977|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21270786|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27300758|PMID:27491081|PMID:27696107|PMID:27981572|PMID:28112737|PMID:28265457|PMID:28492532|PMID:28569743|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:31874108|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34196900|PMID:34637023|PMID:34817745|PMID:35014770|PMID:35904628|PMID:35957908|PMID:36017684|PMID:36071541|PMID:36502525|PMID:36672847|PMID:37231433|PMID:37762649|PMID:37891325|PMID:38136308|PMID:38170500|PMID:38509102|PMID:38566764|PMID:38887977|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:24581859|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:31285513|PMID:31769227|PMID:32984025|PMID:33725141|PMID:34817745|PMID:36017684|PMID:36035419|PMID:36502525|PMID:37626374|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:24581859|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28195393|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29446198|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:31285513|PMID:31769227|PMID:32984025|PMID:33725141|PMID:34817745|PMID:36017684|PMID:36035419|PMID:36502525|PMID:37231433|PMID:37626374|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12159556	AXIN2	axin 2	gene	DOID:9007174	Ventricular Remodeling		ISO	RGD:1349667	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29394407
12159556	AXIN2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:7240710	20180130	OMIM			
12159556	AXIN2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME	PMID:10330403|PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:15841489|PMID:16199547|PMID:16820935|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21541676|PMID:21626677|PMID:22581971|PMID:23169527|PMID:23838596|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25236910|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26681312|PMID:27009842|PMID:27090353|PMID:27153395|PMID:27234654|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28265457|PMID:28492532|PMID:28577310|PMID:28717660|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29341116|PMID:29371908|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30262796|PMID:30322717|PMID:30374176|PMID:30555066|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31721781|PMID:31769227|PMID:31811167|PMID:31819260|PMID:32807118|PMID:32984025|PMID:33193653|PMID:33359728|PMID:33558524|PMID:33606809|PMID:33725141|PMID:34817745|PMID:35014770|PMID:35904628|PMID:36071541|PMID:36672847|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007387	Oligodontia-Colorectal Cancer Syndrome		ISO	RGD:1349667	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: AXIN2 related disorder | ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: AXIN2-related disorder | ClinVar Annotator: match by term: OLIGODONTIA-COLORECTAL CANCER SYNDROME | ClinVar Annotator: match by term: Oligodontia-cancer predisposition syndrome | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME | ClinVar Annotator: match by term: oligodontia-cancer predisposition syndrome	PMID:10330403|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21416598|PMID:21472303|PMID:21476993|PMID:22581971|PMID:23169527|PMID:24033266|PMID:24581859|PMID:25151137|PMID:25640679|PMID:25741868|PMID:26467025|PMID:26580448|PMID:27009842|PMID:27090353|PMID:27234654|PMID:27491081|PMID:28195393|PMID:28265457|PMID:28492532|PMID:28944238|PMID:29212164|PMID:29341116|PMID:29458332|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30760879|PMID:30822429|PMID:31285513|PMID:31769227|PMID:32807118|PMID:32984025|PMID:33606809|PMID:33725141|PMID:34637023|PMID:34817745|PMID:35014770|PMID:35957908|PMID:36017684|PMID:36035419|PMID:36502525|PMID:36896836|PMID:37189394|PMID:37231433|PMID:38170500|PMID:39120161|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9007736	Vertigo		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:21472303|PMID:24033266|PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:1349667	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:28492532
12159556	AXIN2	axin 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1349667	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12159556	AXIN2	axin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:7240710	20200226	OMIM			
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27696107|PMID:28492532|PMID:29371908|PMID:29641532
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:21416598|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33558524|PMID:33725141|PMID:34817745
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28717660|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653|PMID:33558524|PMID:33725141|PMID:34817745
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:12101426|PMID:15042511|PMID:16941501|PMID:17373666|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:27300758|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29371908|PMID:29641532|PMID:30374176|PMID:33193653
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:12101426|PMID:15042511|PMID:15735151|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:19065536|PMID:21069480|PMID:21294210|PMID:21416598|PMID:21472303|PMID:21476993|PMID:21520333|PMID:21626677|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27300758|PMID:27491081|PMID:27696107|PMID:28492532|PMID:28944238|PMID:29114927|PMID:29212164|PMID:29371908|PMID:29625052|PMID:29641532|PMID:30322717|PMID:30374176|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33193653|PMID:34196900|PMID:34817745|PMID:36502525|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:15042511|PMID:15735151|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:34196900|PMID:34817745|PMID:36502525|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11017067|PMID:15042511|PMID:15735151|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:34196900|PMID:34817745|PMID:36502525|PMID:38509102|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:11017067|PMID:15042511|PMID:16199547|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21520333|PMID:21626677|PMID:23838596|PMID:25260786|PMID:25637381|PMID:25741868|PMID:26467025|PMID:26681312|PMID:27009842|PMID:27491081|PMID:27696107|PMID:28112737|PMID:28492532|PMID:29212164|PMID:29625052|PMID:29641532|PMID:30093976|PMID:30322717|PMID:30822429|PMID:31721781|PMID:31819260|PMID:32984025|PMID:33725141|PMID:34196900|PMID:34817745|PMID:36017684|PMID:36502525|PMID:38509102|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:11017067|PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1349667	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:15042511|PMID:16199547|PMID:16941501|PMID:17373666|PMID:17576681|PMID:21416598|PMID:21472303|PMID:21476993|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27009842|PMID:27491081|PMID:28492532|PMID:28944238|PMID:29625052|PMID:29641532|PMID:29887214|PMID:30093976|PMID:32984025|PMID:34817745|PMID:36017684|PMID:36035419|PMID:37231433|PMID:9536098
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD		DNA:SNP::rs2240308, c.148G>A(human)	PMID:31632692|REF_RGD_ID:151356510
12159556	AXIN2	axin 2	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:29534875|REF_RGD_ID:151356662
12159556	AXIN2	axin 2	gene	DOID:9655	oral mucosa leukoplakia	disease_progression	ISO	RGD:1349667	D	RGD:9068941	20220210	RGD			PMID:28939076|REF_RGD_ID:151356661
12159582	ABI3	ABI family member 3	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1323432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28714976
12159582	ABI3	ABI family member 3	gene	DOID:1324	lung cancer		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159582	ABI3	ABI family member 3	gene	DOID:1909	melanoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159582	ABI3	ABI family member 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12159582	ABI3	ABI family member 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12159582	ABI3	ABI family member 3	gene	DOID:4362	cervical cancer		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159582	ABI3	ABI family member 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159582	ABI3	ABI family member 3	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1323432	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12159582	ABI3	ABI family member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323432	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159601	GPSM3	G protein signaling modulator 3	gene	DOID:0060058	lymphoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12159601	GPSM3	G protein signaling modulator 3	gene	DOID:1909	melanoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159601	GPSM3	G protein signaling modulator 3	gene	DOID:4362	cervical cancer		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159601	GPSM3	G protein signaling modulator 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:10534	stomach cancer		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:3070	high grade glioma		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1317330	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1317330	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12159612	B4GALT4	beta-1,4-galactosyltransferase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159622	NOL12	nucleolar protein 12	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159622	NOL12	nucleolar protein 12	gene	DOID:10534	stomach cancer		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159622	NOL12	nucleolar protein 12	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159622	NOL12	nucleolar protein 12	gene	DOID:1909	melanoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159622	NOL12	nucleolar protein 12	gene	DOID:3275	thymoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159622	NOL12	nucleolar protein 12	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159622	NOL12	nucleolar protein 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159622	NOL12	nucleolar protein 12	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1601850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159633	IL23R	interleukin 23 receptor	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21983784|PMID:23291587|PMID:26192919
12159633	IL23R	interleukin 23 receptor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159633	IL23R	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs10889677,rs2201841(human)	PMID:22663548|REF_RGD_ID:7421521
12159633	IL23R	interleukin 23 receptor	gene	DOID:0081120	Graves ophthalmopathy	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677(human)	PMID:18073300|REF_RGD_ID:8549554
12159633	IL23R	interleukin 23 receptor	gene	DOID:0110883	inflammatory bowel disease 17		ISO	RGD:1351657	D	RGD:7240710	20180130	OMIM			
12159633	IL23R	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:7240710	20230505	OMIM			
12159633	IL23R	interleukin 23 receptor	gene	DOID:0111279	psoriasis 7		ISO	RGD:1351657	D	RGD:8554872	20240227	ClinVar		ClinVar Annotator: match by term: IL23R-related condition	PMID:25741868|PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:1024	leprosy		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22019778
12159633	IL23R	interleukin 23 receptor	gene	DOID:1059	intellectual disability		ISO	RGD:1351657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
12159633	IL23R	interleukin 23 receptor	gene	DOID:10608	celiac disease		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD			PMID:19175939|REF_RGD_ID:8549604
12159633	IL23R	interleukin 23 receptor	gene	DOID:10608	celiac disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.R381Q(rs11209026)(human)	PMID:18368064|REF_RGD_ID:8549631
12159633	IL23R	interleukin 23 receptor	gene	DOID:11335	sarcoidosis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:introns,exon:rs7517847,rs11465804,rs11209026(human)	PMID:21846945|REF_RGD_ID:8549545
12159633	IL23R	interleukin 23 receptor	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677,rs7530511(human)	PMID:19021011|REF_RGD_ID:8549564
12159633	IL23R	interleukin 23 receptor	gene	DOID:12361	Graves' disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7530511(human)	PMID:18073300|REF_RGD_ID:8549554
12159633	IL23R	interleukin 23 receptor	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		protein:increased expression:minor salivary gland:	PMID:22262980|REF_RGD_ID:8549566
12159633	IL23R	interleukin 23 receptor	gene	DOID:13141	uveitis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Sarcoidosis;DNA:SNPs:intron,exon:rs11465804,rs11209026(human)	PMID:21846945|REF_RGD_ID:8549545
12159633	IL23R	interleukin 23 receptor	gene	DOID:1324	lung cancer		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1884444(human)	PMID:22483685|REF_RGD_ID:8549550
12159633	IL23R	interleukin 23 receptor	gene	DOID:13241	Behcet's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype::rs17375018, rs11209032(human);	PMID:20375120|REF_RGD_ID:8549565
12159633	IL23R	interleukin 23 receptor	gene	DOID:1826	epilepsy		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:2030	anxiety disorder		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:p.R381Q(rs11209026),(rs7517847)(human)	PMID:18368064|REF_RGD_ID:8549631
12159633	IL23R	interleukin 23 receptor	gene	DOID:2377	multiple sclerosis	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2201841,rs10889677,s7517847(human)	PMID:24547735|REF_RGD_ID:8549632
12159633	IL23R	interleukin 23 receptor	gene	DOID:2841	asthma		ISO	RGD:1622129	D	RGD:9068941	20200609	RGD			PMID:19935773|REF_RGD_ID:5037240
12159633	IL23R	interleukin 23 receptor	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1351657	D	RGD:9068941	20260212	RGD		DNA:SNPs, haplotype: :rs11805303, rs7518660	PMID:36483566|REF_RGD_ID:632518378
12159633	IL23R	interleukin 23 receptor	gene	DOID:3275	thymoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159633	IL23R	interleukin 23 receptor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12159633	IL23R	interleukin 23 receptor	gene	DOID:418	systemic scleroderma		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs11209026, rs11465804 (human)	PMID:19918037|REF_RGD_ID:5096624
12159633	IL23R	interleukin 23 receptor	gene	DOID:418	systemic scleroderma	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs11209032,rs1495965(human)	PMID:18713787|REF_RGD_ID:8549603
12159633	IL23R	interleukin 23 receptor	gene	DOID:4483	rhinitis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype: :rs7517847(human)	PMID:23696856|REF_RGD_ID:8549605
12159633	IL23R	interleukin 23 receptor	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;DNA:SNPs: :rs11209026, rs11465804 (human)	PMID:19918037|REF_RGD_ID:5096624
12159633	IL23R	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17952073|PMID:20062062
12159633	IL23R	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:multiple:	PMID:19522770|REF_RGD_ID:8549549
12159633	IL23R	interleukin 23 receptor	gene	DOID:7147	ankylosing spondylitis	no_association	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11209026(human)	PMID:19877036|REF_RGD_ID:8549630
12159633	IL23R	interleukin 23 receptor	gene	DOID:7148	rheumatoid arthritis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP::rs1343151(human)	PMID:18647855|REF_RGD_ID:8549596
12159633	IL23R	interleukin 23 receptor	gene	DOID:848	arthritis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		associated with Psoriasis;DNA:haplotype::rs7530511, rs11209026(human)	PMID:19035472|REF_RGD_ID:8549572
12159633	IL23R	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP,Haplotype: :rs1884444(human)	PMID:23093364|REF_RGD_ID:8549574
12159633	IL23R	interleukin 23 receptor	gene	DOID:8577	ulcerative colitis		ISO	RGD:1351657	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:18438406|PMID:19122664|PMID:20228799
12159633	IL23R	interleukin 23 receptor	gene	DOID:8778	Crohn's disease		ISO	RGD:1351657	D	RGD:9068941	20250508	CTD		CTD Direct Evidence: marker/mechanism	PMID:17068223|PMID:17435756|PMID:18438406
12159633	IL23R	interleukin 23 receptor	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:17068223|REF_RGD_ID:8549568
12159633	IL23R	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:9068941	20260521	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:20953190|PMID:24212883
12159633	IL23R	interleukin 23 receptor	gene	DOID:8893	psoriasis		ISO	RGD:1351657	D	RGD:9068941	20260521	RGD		DNA:SNPs: :rs1884444,rs10889677(human);	PMID:23093364|REF_RGD_ID:8549574
12159633	IL23R	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs11805303(human)	PMID:20978829|REF_RGD_ID:8549602
12159633	IL23R	interleukin 23 receptor	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.R381Q(human)	PMID:17587057|REF_RGD_ID:8549569
12159633	IL23R	interleukin 23 receptor	gene	DOID:9003049	Femur Head Necrosis	susceptibility	ISO	RGD:1351657	D	RGD:9068941	20231207	RGD		associated with Alcohol-Related Disorders;DNA:SNP:rs6693831 (human)	PMID:28422712|REF_RGD_ID:401901196
12159633	IL23R	interleukin 23 receptor	gene	DOID:9008023	Memory Disorders		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:28492532
12159633	IL23R	interleukin 23 receptor	gene	DOID:9008286	Experimental Autoimmune Myasthenia Gravis		ISO	RGD:1586368	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lymph node	PMID:21193288|REF_RGD_ID:5108250
12159633	IL23R	interleukin 23 receptor	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1351657	D	RGD:9068941	20200609	RGD		protein:increased expression:T cell:	PMID:21110900|REF_RGD_ID:8549601
12159633	IL23R	interleukin 23 receptor	gene	DOID:9834	hyperopia		ISO	RGD:1351657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:28492532
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0050336	hypophosphatemia		ISO	RGD:1351456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	PMID:25741868
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0050459	hyperphosphatemia		ISO	RGD:1351456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0050589	inflammatory bowel disease	disease_progression	ISO	RGD:1351456	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:22551310|REF_RGD_ID:10044237
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0050948	autosomal dominant hypophosphatemic rickets		ISO	RGD:1351456	D	RGD:7240710	20180130	OMIM			
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0050948	autosomal dominant hypophosphatemic rickets		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autosomal Dominant Hypophosphatemic Rickets | ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets	PMID:11062477|PMID:11409890|PMID:11737582|PMID:11805436|PMID:12050201|PMID:12130585|PMID:12711740|PMID:12851820|PMID:12874285|PMID:15182416|PMID:15590700|PMID:15628294|PMID:15836777|PMID:15885032|PMID:16436388|PMID:17227222|PMID:17452648|PMID:17623664|PMID:17992255|PMID:18682534|PMID:21880793|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26186302|PMID:26467025|PMID:28492532|PMID:29336609|PMID:31486862|PMID:32415663|PMID:34633109|PMID:35738466|PMID:40794449
12159648	FGF23	fibroblast growth factor 23	gene	DOID:0111063	hyperphosphatemic familial tumoral calcinosis		ISO	RGD:1351456	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, familial, hyperphosphatemic	PMID:15590700|PMID:15687325|PMID:18682534|PMID:19837926|PMID:24033266|PMID:25326637|PMID:25741868
12159648	FGF23	fibroblast growth factor 23	gene	DOID:182	calcinosis		ISO	RGD:1351456	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17710231
12159648	FGF23	fibroblast growth factor 23	gene	DOID:4676	uremia		ISO	RGD:620178	D	RGD:9068941	20200609	RGD			PMID:19339809|REF_RGD_ID:10044236
12159648	FGF23	fibroblast growth factor 23	gene	DOID:630	genetic disease		ISO	RGD:1351456	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12159648	FGF23	fibroblast growth factor 23	gene	DOID:784	chronic kidney disease		ISO	RGD:620178	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:20016468|REF_RGD_ID:10044210
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:1351456	D	RGD:9068941	20260521	RGD			PMID:14988389|REF_RGD_ID:10044208
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9002165	Diabetic Nephropathies	severity	ISO	RGD:620178	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:kidney:	PMID:23967103|REF_RGD_ID:10044235
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9002589	Bone Fractures		ISO	RGD:1351456	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:25741868
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9002644	Premature Aging		ISO	RGD:734317	D	RGD:9068941	20200609	RGD			PMID:18729070|REF_RGD_ID:10044240
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9002644	Premature Aging		ISO	RGD:734317	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver:	PMID:19500727|REF_RGD_ID:10045876
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9004914	Postmenopausal Osteoporosis		ISO	RGD:1351456	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:24101107|REF_RGD_ID:10044241
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9006332	Vascular Calcification		ISO	RGD:620178	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9007069	Hyperphosphatemic Familial Tumoral Calcinosis 2		ISO	RGD:1351456	D	RGD:7240710	20190508	OMIM			
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9007069	Hyperphosphatemic Familial Tumoral Calcinosis 2		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC, 2 | ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 2	PMID:11062477|PMID:22419710|PMID:24033266|PMID:25445451|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29336609|PMID:35873773
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9007181	Osteoporotic Fractures		ISO	RGD:1351456	D	RGD:9068941	20200609	RGD			PMID:20928885|REF_RGD_ID:10044238
12159648	FGF23	fibroblast growth factor 23	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1351456	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:25741868
12159655	SCEL	sciellin	gene	DOID:10534	stomach cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159655	SCEL	sciellin	gene	DOID:1115	sarcoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159655	SCEL	sciellin	gene	DOID:1324	lung cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159655	SCEL	sciellin	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12159655	SCEL	sciellin	gene	DOID:4362	cervical cancer		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159655	SCEL	sciellin	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159655	SCEL	sciellin	gene	DOID:5041	esophageal cancer		ISO	RGD:1312935	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159655	SCEL	sciellin	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159655	SCEL	sciellin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159655	SCEL	sciellin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159655	SCEL	sciellin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312935	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0110599	primary ciliary dyskinesia 3		ISO	RGD:6771255	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 3	
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:7240710	20200101	OMIM			
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:0111855	primary ciliary dyskinesia 42		ISO	RGD:6771255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42 | ClinVar Annotator: match by term: MCIDAS-related condition	PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:630	genetic disease		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9001591	Ciliary Motility Disorders		ISO	RGD:6771255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ciliary dyskinesia	PMID:25741868|PMID:28492532
12159711	MCIDAS	multiciliate differentiation and DNA synthesis associated cell cycle protein	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:6771255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:24033266|PMID:25048963|PMID:25741868|PMID:28492532|PMID:8813877|PMID:9536098
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:10534	stomach cancer		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:3275	thymoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159731	TAF5	TATA-box binding protein associated factor 5	gene	DOID:9256	colorectal cancer		ISO	RGD:1322729	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12159752	MUC7	mucin 7, secreted	gene	DOID:2841	asthma		ISO	RGD:1344843	D	RGD:7240710	20230505	OMIM			
12159752	MUC7	mucin 7, secreted	gene	DOID:2841	asthma		ISO	RGD:1344843	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ASTHMA, PROTECTION AGAINST	PMID:28492532
12159752	MUC7	mucin 7, secreted	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344843	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:5041	esophageal cancer		ISO	RGD:1606331	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9000998	Brain Injuries		ISO	RGD:11508551	D	RGD:9068941	20200609	RGD			PMID:24385964|REF_RGD_ID:10401136
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:1606331	D	RGD:9068941	20200609	RGD			PMID:19054144|REF_RGD_ID:10401133
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1606331	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1606331	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12159823	ANP32A	acidic nuclear phosphoprotein 32 family member A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606331	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159833	HPF1	histone PARylation factor 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159833	HPF1	histone PARylation factor 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12159833	HPF1	histone PARylation factor 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159833	HPF1	histone PARylation factor 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159833	HPF1	histone PARylation factor 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159833	HPF1	histone PARylation factor 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606274	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0061127	retinitis pigmentosa 99		ISO	RGD:731354	D	RGD:7240710	20260701	OMIM			
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:0061127	retinitis pigmentosa 99		ISO	RGD:731354	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: RETINITIS PIGMENTOSA 99	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:10534	stomach cancer		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:156439260	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:12835	quadriplegia		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraplegia	PMID:25741868
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:1909	melanoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:3275	thymoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:731354	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159857	IDH3G	isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:731354	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159874	TENT5C	terminal nucleotidyltransferase 5C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159874	TENT5C	terminal nucleotidyltransferase 5C	gene	DOID:1115	sarcoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159874	TENT5C	terminal nucleotidyltransferase 5C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159874	TENT5C	terminal nucleotidyltransferase 5C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12159874	TENT5C	terminal nucleotidyltransferase 5C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159881	RASIP1	Ras interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313233	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:1354006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:7240710	20180130	OMIM			
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:0070203	familial partial lipodystrophy type 5		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CIDEC-related condition	PMID:25741868|PMID:28492532
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:1354006	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12159897	CIDEC	cell death inducing DFFA like effector c	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354006	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159913	R3HDML	R3H domain containing like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159913	R3HDML	R3H domain containing like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:0111678	hereditary folate malabsorption		ISO	RGD:1606750	D	RGD:7240710	20180130	OMIM			
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:0111678	hereditary folate malabsorption		ISO	RGD:1606750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital defect of folate absorption | ClinVar Annotator: match by term: FOLATE MALABSORPTION, HEREDITARY | ClinVar Annotator: match by term: SLC46A1-related condition	PMID:17446347|PMID:19176287|PMID:20301716|PMID:21333572|PMID:21602279|PMID:22843796|PMID:24534056|PMID:25741868|PMID:28492532
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:12450	pancytopenia		ISO	RGD:1606750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21346251
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:2355	anemia		ISO	RGD:1606750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21346251
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:630	genetic disease		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:784	chronic kidney disease		ISO	RGD:1309472	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver, heart, jejunum (rat)	PMID:21149507|REF_RGD_ID:7327184
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1606750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:9002984	Malabsorption Syndromes		ISO	RGD:1606750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17129779|PMID:17446347
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159922	SLC46A1	solute carrier family 46 member 1	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:1606750	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19204075
12159931	CLEC5A	C-type lectin domain containing 5A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159931	CLEC5A	C-type lectin domain containing 5A	gene	DOID:12206	dengue hemorrhagic fever		ISO	RGD:1343085	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18496526
12159931	CLEC5A	C-type lectin domain containing 5A	gene	DOID:13276	Mycoplasma pneumoniae pneumonia	severity	ISO	RGD:1343085	D	RGD:9068941	20200626	RGD			PMID:28302172|REF_RGD_ID:32716376
12159931	CLEC5A	C-type lectin domain containing 5A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12159931	CLEC5A	C-type lectin domain containing 5A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343085	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:1115	sarcoma		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1351329	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1351329	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12159959	NRBP2	nuclear receptor binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12159989	PRKCG	protein kinase C gamma	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:732858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	
12159989	PRKCG	protein kinase C gamma	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12159989	PRKCG	protein kinase C gamma	gene	DOID:0050951	hereditary ataxia		ISO	RGD:732858	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	PMID:25741868
12159989	PRKCG	protein kinase C gamma	gene	DOID:0050964	spinocerebellar ataxia 14		ISO	RGD:732858	D	RGD:7240710	20180130	OMIM			
12159989	PRKCG	protein kinase C gamma	gene	DOID:0050964	spinocerebellar ataxia 14		ISO	RGD:732858	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: PRKCG-related condition | ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA 14 | ClinVar Annotator: match by term: Spinocerebellar ataxia 14 | ClinVar Annotator: match by term: Spinocerebellar ataxia type 14	PMID:14676051|PMID:14694043|PMID:15313841|PMID:15824357|PMID:15964845|PMID:16193476|PMID:16649092|PMID:17149711|PMID:17344846|PMID:18005063|PMID:18499672|PMID:18577575|PMID:19561170|PMID:21434874|PMID:21937992|PMID:24937631|PMID:25217572|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28738819|PMID:29053796|PMID:30093405|PMID:33310205|PMID:34292398|PMID:36166510|PMID:9545390
12159989	PRKCG	protein kinase C gamma	gene	DOID:0080058	autosomal recessive spinocerebellar ataxia 14		ISO	RGD:732858	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 14	PMID:25741868
12159989	PRKCG	protein kinase C gamma	gene	DOID:10534	stomach cancer		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12159989	PRKCG	protein kinase C gamma	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:11147	D	RGD:9068941	20200609	RGD			PMID:9545390|REF_RGD_ID:737791
12159989	PRKCG	protein kinase C gamma	gene	DOID:1059	intellectual disability		ISO	RGD:732858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12159989	PRKCG	protein kinase C gamma	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:732858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12159989	PRKCG	protein kinase C gamma	gene	DOID:1909	melanoma		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12159989	PRKCG	protein kinase C gamma	gene	DOID:3275	thymoma		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12159989	PRKCG	protein kinase C gamma	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:732858	D	RGD:9068941	20200609	RGD			PMID:14688616|REF_RGD_ID:1358416
12159989	PRKCG	protein kinase C gamma	gene	DOID:480	movement disease		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:26467025
12159989	PRKCG	protein kinase C gamma	gene	DOID:5041	esophageal cancer		ISO	RGD:732858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12159989	PRKCG	protein kinase C gamma	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12159989	PRKCG	protein kinase C gamma	gene	DOID:630	genetic disease		ISO	RGD:732858	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:26467025
12159989	PRKCG	protein kinase C gamma	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:11147	D	RGD:9068941	20200813	RGD		protein:decreased expression:spinal cord (mouse)	PMID:10501452|REF_RGD_ID:28867228
12159989	PRKCG	protein kinase C gamma	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:732858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20398063
12159989	PRKCG	protein kinase C gamma	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:732858	D	RGD:9068941	20200609	RGD		DNA:missense mutations:cds: (human)	PMID:12644968|REF_RGD_ID:737790
12159989	PRKCG	protein kinase C gamma	gene	DOID:9002211	Hyperalgesia		ISO	RGD:732858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19955894|PMID:27093858
12159989	PRKCG	protein kinase C gamma	gene	DOID:9002211	Hyperalgesia	treatment	ISO	RGD:732858	D	RGD:9068941	20200813	RGD			PMID:12560106|REF_RGD_ID:28867224
12159989	PRKCG	protein kinase C gamma	gene	DOID:9004866	Ataxia		ISO	RGD:732858	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12159989	PRKCG	protein kinase C gamma	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732858	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12160021	IL12B	interleukin 12B	gene	DOID:0060859	salmonellosis	susceptibility	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		disseminated BCG and Salmonella enteritidis infection, OMIM:209950    DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns	PMID:9854038|REF_RGD_ID:1600042
12160021	IL12B	interleukin 12B	gene	DOID:0111950	immunodeficiency 29		ISO	RGD:1353629	D	RGD:7240710	20180130	OMIM			
12160021	IL12B	interleukin 12B	gene	DOID:0111950	immunodeficiency 29		ISO	RGD:1353629	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 29 | ClinVar Annotator: match by term: Immunodeficiency 29 | ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	PMID:11704807|PMID:11753820|PMID:16199547|PMID:17236132|PMID:17576681|PMID:18449199|PMID:22739501|PMID:23429356|PMID:23575353|PMID:25741868|PMID:28492532|PMID:9536098
12160021	IL12B	interleukin 12B	gene	DOID:11168	anogenital venereal wart		ISO	RGD:1353629	D	RGD:9068941	20201105	RGD		protein:decreased expression:peripheral blood mononuclear cells (human)	PMID:23754510|REF_RGD_ID:40400714
12160021	IL12B	interleukin 12B	gene	DOID:11168	anogenital venereal wart	treatment	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD			PMID:16114559|REF_RGD_ID:7829774
12160021	IL12B	interleukin 12B	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20639880
12160021	IL12B	interleukin 12B	gene	DOID:12385	shigellosis	treatment	ISO	RGD:732857	D	RGD:9068941	20201022	RGD			PMID:30615126|REF_RGD_ID:39938959
12160021	IL12B	interleukin 12B	gene	DOID:14453	farmer's lung		ISO	RGD:732857	D	RGD:9068941	20200609	RGD			PMID:12084045|REF_RGD_ID:4145430
12160021	IL12B	interleukin 12B	gene	DOID:1602	lymphadenitis		ISO	RGD:1353629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphadenitis	PMID:25741868
12160021	IL12B	interleukin 12B	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1353629	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12160021	IL12B	interleukin 12B	gene	DOID:2841	asthma	severity	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter	PMID:12241719|REF_RGD_ID:4145428
12160021	IL12B	interleukin 12B	gene	DOID:2841	asthma	severity	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:introns:	PMID:15322986|REF_RGD_ID:1600043
12160021	IL12B	interleukin 12B	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter, 3'utr:	PMID:16210052|REF_RGD_ID:4145438
12160021	IL12B	interleukin 12B	gene	DOID:3070	high grade glioma		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18176109
12160021	IL12B	interleukin 12B	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :	PMID:19279357|REF_RGD_ID:4145423
12160021	IL12B	interleukin 12B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12193738
12160021	IL12B	interleukin 12B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:732857	D	RGD:9068941	20200609	RGD			PMID:20176803|REF_RGD_ID:4888529
12160021	IL12B	interleukin 12B	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:732857	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:18598692|REF_RGD_ID:4889581
12160021	IL12B	interleukin 12B	gene	DOID:630	genetic disease		ISO	RGD:1353629	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12160021	IL12B	interleukin 12B	gene	DOID:7147	ankylosing spondylitis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743469
12160021	IL12B	interleukin 12B	gene	DOID:8577	ulcerative colitis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438406|PMID:20228799|PMID:21297633
12160021	IL12B	interleukin 12B	gene	DOID:8778	Crohn's disease		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18438406
12160021	IL12B	interleukin 12B	gene	DOID:8893	psoriasis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19169254|PMID:19169255|PMID:20953190
12160021	IL12B	interleukin 12B	gene	DOID:9001488	Human Influenza		ISO	RGD:732857	D	RGD:9068941	20200609	RGD			PMID:16389596|REF_RGD_ID:4145426
12160021	IL12B	interleukin 12B	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17332360
12160021	IL12B	interleukin 12B	gene	DOID:9002395	Hypothermia		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16369138
12160021	IL12B	interleukin 12B	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:628704	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lymph node	PMID:19233473|REF_RGD_ID:4831840
12160021	IL12B	interleukin 12B	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12160021	IL12B	interleukin 12B	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:+1188A>C (human)	PMID:15871664|REF_RGD_ID:14401721
12160021	IL12B	interleukin 12B	gene	DOID:9004484	Sepsis		ISO	RGD:628704	D	RGD:9068941	20200609	RGD		protein:increased expression:peritoneal fluid, plasma	PMID:15776385|REF_RGD_ID:4888507
12160021	IL12B	interleukin 12B	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:732857	D	RGD:9068941	20200609	RGD			PMID:10848872|REF_RGD_ID:4145421
12160021	IL12B	interleukin 12B	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:628704	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
12160021	IL12B	interleukin 12B	gene	DOID:9004729	Nontuberculous Mycobacterium Infections	susceptibility	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		disseminated BCG and Salmonella enteritidis infection, OMIM:209950    DNA:deletion:intron,exon:homozygous 4.4kb deletion encompassing exons 4 and 5 and associated introns	PMID:9854038|REF_RGD_ID:1600042
12160021	IL12B	interleukin 12B	gene	DOID:9005968	Neuralgia		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31432094
12160021	IL12B	interleukin 12B	gene	DOID:9006223	Kidney Reperfusion Injury	ameliorates	ISO	RGD:732857	D	RGD:9068941	20230601	RGD			PMID:24920753|REF_RGD_ID:329845564
12160021	IL12B	interleukin 12B	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17326190
12160021	IL12B	interleukin 12B	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1353629	D	RGD:9068941	20230518	CTD		CTD Direct Evidence: therapeutic	PMID:36520315
12160021	IL12B	interleukin 12B	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953186
12160021	IL12B	interleukin 12B	gene	DOID:9008163	Chronic Hepatitis B	susceptibility	ISO	RGD:1353629	D	RGD:9068941	20200609	RGD		DNA:SNP:3'utr: (rs3212227)	PMID:25469587|REF_RGD_ID:11074616
12160021	IL12B	interleukin 12B	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1353629	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838195|PMID:26808113
12160036	SMIM8	small integral membrane protein 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160036	SMIM8	small integral membrane protein 8	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313022	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18252227
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:10534	stomach cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:1115	sarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:1324	lung cancer		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:1909	melanoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1306427	D	RGD:9068941	20200609	RGD		protein:increased expression:bronchus	PMID:17967935|REF_RGD_ID:4892278
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD		DNA:SNP:exon (human)	PMID:14566338|REF_RGD_ID:4892276
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:21103062|REF_RGD_ID:4889866
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma		ISO	RGD:1315036	D	RGD:9068941	20260430	RGD		DNA:SNP: :rs1435879	PMID:19910028|REF_RGD_ID:645238736
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:2841	asthma	no_association	ISO	RGD:1315036	D	RGD:9068941	20260312	RGD		DNA:SNPs: :multiple	PMID:19672052|REF_RGD_ID:4892275
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:3275	thymoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:5419	schizophrenia		ISO	RGD:1315036	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:1315036	D	RGD:9068941	20200609	RGD			PMID:19951440|REF_RGD_ID:4892274
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1315036	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19233941
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160053	DPP10	dipeptidyl peptidase like 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315036	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:0081228	autosomal recessive intellectual developmental disorder 67		ISO	RGD:1314535	D	RGD:7240710	20190315	OMIM			
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:0081228	autosomal recessive intellectual developmental disorder 67		ISO	RGD:1314535	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: EIF3F-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 67 | ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 67	PMID:25741868
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:10534	stomach cancer		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:3275	thymoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:4362	cervical cancer		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:6039	uveal melanoma		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:630	genetic disease		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314535	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160084	EIF3F	eukaryotic translation initiation factor 3 subunit F	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1306112	D	RGD:9068941	20200609	RGD			PMID:12875716|REF_RGD_ID:10755506
12160096	CKAP2	cytoskeleton associated protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12160096	CKAP2	cytoskeleton associated protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1345420	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37156999
12160116	GIT2	GIT ArfGAP 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:10534	stomach cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:1324	lung cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:1909	melanoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:3275	thymoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:4362	cervical cancer		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:6039	uveal melanoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160116	GIT2	GIT ArfGAP 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1345420	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:1115	sarcoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:1324	lung cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:3275	thymoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1602328	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160161	LIMA1	LIM domain and actin binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602328	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160181	SINHCAF	SIN3-HDAC complex associated factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160181	SINHCAF	SIN3-HDAC complex associated factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160181	SINHCAF	SIN3-HDAC complex associated factor	gene	DOID:1793	pancreatic cancer		ISO	RGD:1347576	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:35213078
12160181	SINHCAF	SIN3-HDAC complex associated factor	gene	DOID:4362	cervical cancer		ISO	RGD:1347576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160181	SINHCAF	SIN3-HDAC complex associated factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050677	Bjornstad syndrome		ISO	RGD:1347169	D	RGD:7240710	20180130	OMIM			
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050677	Bjornstad syndrome		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BJORNSTAD SYNDROME | ClinVar Annotator: match by term: BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY | ClinVar Annotator: match by term: Bjornstad syndrome | ClinVar Annotator: match by term: Pili torti and nerve deafness | ClinVar Annotator: match by term: Pili torti-deafness syndrome	PMID:12910490|PMID:17314340|PMID:17403714|PMID:19508421|PMID:22310368|PMID:24033266|PMID:25741868|PMID:26489029|PMID:28128857|PMID:28322498|PMID:28492532|PMID:28496993|PMID:30311386|PMID:31435670|PMID:33511646|PMID:34662929|PMID:38465286
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1347169	D	RGD:7240710	20180130	OMIM			
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0080111	mitochondrial complex III deficiency nuclear type 1		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BCS1L-related disorder | ClinVar Annotator: match by term: Decreased activity of mitochondrial complex III | ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1 | ClinVar Annotator: match by term: Mitochondrial complex III deficiency nuclear type 1	PMID:11528392|PMID:12910490|PMID:17314340|PMID:17403714|PMID:19508421|PMID:20518024|PMID:22310368|PMID:22991165|PMID:23892085|PMID:24033266|PMID:24655110|PMID:25741868|PMID:28322498|PMID:28427446|PMID:28492532|PMID:29090881|PMID:30582773|PMID:31435670|PMID:32313153|PMID:34662929|PMID:38465286|PMID:38703036
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111139	mitochondrial complex III deficiency		ISO	RGD:1347169	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex III deficiency	PMID:17314340|PMID:17403714|PMID:22310368|PMID:24033266|PMID:25741868|PMID:28492532|PMID:38465286
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISO	RGD:1347169	D	RGD:7240710	20180130	OMIM			
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:0111455	GRACILE syndrome		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: FINNISH LETHAL NEONATAL METABOLIC SYNDROME | ClinVar Annotator: match by term: Finnish lethal neonatal metabolic syndrome | ClinVar Annotator: match by term: GRACILE syndrome	PMID:12215968|PMID:12547234|PMID:12910490|PMID:16199547|PMID:17314340|PMID:17403714|PMID:18386115|PMID:19162478|PMID:19285991|PMID:19389488|PMID:19508421|PMID:20727375|PMID:21274865|PMID:22277166|PMID:22277967|PMID:22310368|PMID:22829922|PMID:24033266|PMID:24236502|PMID:24704045|PMID:25741868|PMID:25895478|PMID:25914718|PMID:25954003|PMID:26489029|PMID:27618451|PMID:27959697|PMID:28105683|PMID:28128857|PMID:28322498|PMID:28427446|PMID:28490743|PMID:28492532|PMID:28496993|PMID:30582773|PMID:30634555|PMID:31435670|PMID:31683770|PMID:32552793|PMID:32581362|PMID:32637629|PMID:33511646|PMID:33920624|PMID:34645488|PMID:34650211|PMID:34662929|PMID:38039045|PMID:38465286|PMID:38703036|PMID:39992606
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:1059	intellectual disability		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532|PMID:31316545|PMID:32581362|PMID:37541188
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:1826	epilepsy		ISO	RGD:1347169	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:3652	Leigh disease		ISO	RGD:1347169	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Subacute necrotizing encephalopathy	PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:3652	Leigh disease		ISO	RGD:1347169	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:12215968|PMID:12910490|PMID:17314340|PMID:17403714|PMID:18771761|PMID:19162478|PMID:19389488|PMID:19508421|PMID:20472482|PMID:20518024|PMID:22277166|PMID:22991165|PMID:24033266|PMID:24172246|PMID:24704045|PMID:25326637|PMID:25741868|PMID:25895478|PMID:25914718|PMID:26467025|PMID:28492532|PMID:30582773|PMID:9545407
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:3652	Leigh disease		ISO	RGD:1347169	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease	PMID:17314340|PMID:19389488|PMID:24033266|PMID:24172246|PMID:25741868|PMID:25895478|PMID:25914718|PMID:28492532|PMID:33176815|PMID:34662929
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:4362	cervical cancer		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:440	neuromuscular disease		ISO	RGD:1347169	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuromuscular disease | ClinVar Annotator: match by term: Neuromuscular disorder	PMID:25741868
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:630	genetic disease		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11528392|PMID:17314340|PMID:20518024|PMID:24655110|PMID:25741868|PMID:28492532|PMID:29090881
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1347169	D	RGD:9068941	20200609	RGD		DNA:mutations: ; mitochondrial complex III deficiency, OMIM:124000	PMID:11528392|REF_RGD_ID:1600515
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:9256	colorectal cancer		ISO	RGD:1347169	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:28492532
12160204	BCS1L	BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone	gene	DOID:936	brain disease		ISO	RGD:1347169	D	RGD:8554872	20230502	ClinVar		ClinVar Annotator: match by term: Neonatal encephalopathy	PMID:25741868
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:731644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19223503
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:0110721	neuronal ceroid lipofuscinosis 1		ISO	RGD:731644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21224254
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:10763	hypertension		ISO	RGD:731644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased expression, increased phosphorylation:liver	PMID:15769867|REF_RGD_ID:1642977
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased activity:heart	PMID:16043946|REF_RGD_ID:1643022
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:1324	lung cancer		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:2018	hyperinsulinism		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:liver, skeletal muscle	PMID:15692808|REF_RGD_ID:1643026
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:219	colon cancer	treatment	ISO	RGD:620683	D	RGD:9068941	20210611	RGD			PMID:33360052|REF_RGD_ID:127229954
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:3070	high grade glioma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:3275	thymoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:4362	cervical cancer		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:5041	esophageal cancer		ISO	RGD:731644	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:5844	myocardial infarction		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased threonine phosphorylation:heart left ventricle	PMID:16540832|REF_RGD_ID:1642998
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:767	muscular atrophy		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased phosphorylation:soleus	PMID:17885021|REF_RGD_ID:1642984
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:kidney	PMID:16221708|REF_RGD_ID:1643017
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9002513	Hypoproteinemia		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		associated with Liver Cirrhosis, Experimental	PMID:16169275|REF_RGD_ID:1643028
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased threonine phosphorylation:heart left ventricle	PMID:16540832|REF_RGD_ID:1642998
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9004462	Atrophy		ISO	RGD:731644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16391472
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:731644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19289642
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9007730	Burns		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:heart	PMID:14695116|REF_RGD_ID:1643025
12160227	RPS6KB1	ribosomal protein S6 kinase B1	gene	DOID:9970	obesity		ISO	RGD:620683	D	RGD:9068941	20200609	RGD		protein:increased phosphorylation:skeletal muscle	PMID:15604215|REF_RGD_ID:1642978
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:10534	stomach cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:4362	cervical cancer		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1348103	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160252	CNOT11	CCR4-NOT transcription complex subunit 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348103	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160263	JADE2	jade family PHD finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12160263	JADE2	jade family PHD finger 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1319333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12160263	JADE2	jade family PHD finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319333	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12160263	JADE2	jade family PHD finger 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1319333	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12160300	UTP23	UTP23 small subunit processome component	gene	DOID:0050861	colorectal adenocarcinoma	susceptibility	ISO	RGD:1601941	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.P215Q (rs16888728) (human)	PMID:26553438|REF_RGD_ID:11041896
12160300	UTP23	UTP23 small subunit processome component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160300	UTP23	UTP23 small subunit processome component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160300	UTP23	UTP23 small subunit processome component	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1601941	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1115	sarcoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1324	lung cancer		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:1909	melanoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:3070	high grade glioma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:11554295	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160307	PRAG1	PEAK1 related, kinase-activating pseudokinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:11554295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160316	GK5	glycerol kinase 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160316	GK5	glycerol kinase 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160316	GK5	glycerol kinase 5	gene	DOID:1324	lung cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160316	GK5	glycerol kinase 5	gene	DOID:1909	melanoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160316	GK5	glycerol kinase 5	gene	DOID:2394	ovarian cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12160316	GK5	glycerol kinase 5	gene	DOID:4362	cervical cancer		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160316	GK5	glycerol kinase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160316	GK5	glycerol kinase 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12160316	GK5	glycerol kinase 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160316	GK5	glycerol kinase 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1606415	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160340	ATXN2	ataxin 2	gene	DOID:0050955	spinocerebellar ataxia 2		ISO	RGD:1347160	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 2	PMID:25741868
12160340	ATXN2	ataxin 2	gene	DOID:0050955	spinocerebellar ataxia 2	susceptibility	ISO	RGD:1347160	D	RGD:7240710	20260715	OMIM			
12160340	ATXN2	ataxin 2	gene	DOID:0060470	salt and pepper syndrome		ISO	RGD:1347160	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Salt and pepper developmental regression syndrome	PMID:25741868
12160340	ATXN2	ataxin 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:1347160	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Hereditary late onset Parkinson disease	
12160340	ATXN2	ataxin 2	gene	DOID:0060892	late onset Parkinson's disease	susceptibility	ISO	RGD:1347160	D	RGD:7240710	20260715	OMIM			
12160340	ATXN2	ataxin 2	gene	DOID:10534	stomach cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160340	ATXN2	ataxin 2	gene	DOID:1067	open-angle glaucoma		ISO	RGD:1347160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26752265
12160340	ATXN2	ataxin 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160340	ATXN2	ataxin 2	gene	DOID:1115	sarcoma		ISO	RGD:1347160	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160340	ATXN2	ataxin 2	gene	DOID:1324	lung cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160340	ATXN2	ataxin 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:1347160	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Susceptibility to Parkinson's Disease	
12160340	ATXN2	ataxin 2	gene	DOID:1826	epilepsy		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12160340	ATXN2	ataxin 2	gene	DOID:1909	melanoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160340	ATXN2	ataxin 2	gene	DOID:3275	thymoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160340	ATXN2	ataxin 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1347160	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868
12160340	ATXN2	ataxin 2	gene	DOID:4362	cervical cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160340	ATXN2	ataxin 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12160340	ATXN2	ataxin 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160340	ATXN2	ataxin 2	gene	DOID:630	genetic disease		ISO	RGD:1347160	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12160340	ATXN2	ataxin 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160340	ATXN2	ataxin 2	gene	DOID:9002121	Spinocerebellar Ataxias		ISO	RGD:1347160	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19224595|PMID:20065139
12160340	ATXN2	ataxin 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12160340	ATXN2	ataxin 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160340	ATXN2	ataxin 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: BREAST CANCER, FAMILIAL | ClinVar Annotator: match by term: Familial cancer of breast	
12160340	ATXN2	ataxin 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160340	ATXN2	ataxin 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1347160	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12160370	NPHP4	nephrocystin 4	gene	DOID:0050834	CHARGE syndrome		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHARGE syndrome	PMID:25741868
12160370	NPHP4	nephrocystin 4	gene	DOID:0060058	lymphoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12160370	NPHP4	nephrocystin 4	gene	DOID:0061278	Senior-Loken syndrome 4		ISO	RGD:1351118	D	RGD:7240710	20180130	OMIM			
12160370	NPHP4	nephrocystin 4	gene	DOID:0061278	Senior-Loken syndrome 4		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NPHP4-related condition | ClinVar Annotator: match by term: SENIOR-LOKEN SYNDROME 4 | ClinVar Annotator: match by term: Senior-Loken syndrome 4	PMID:12205563|PMID:15776426|PMID:16199547|PMID:17576681|PMID:21068128|PMID:21546380|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23559409|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29974258|PMID:30586318|PMID:31308072|PMID:31964843|PMID:32483926|PMID:32865313|PMID:34216551|PMID:34426522|PMID:36090483|PMID:36938085|PMID:36990420|PMID:37230223|PMID:37798099|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0080301	atypical hemolytic-uremic syndrome		ISO	RGD:1351118	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Atypical hemolytic-uremic syndrome	PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:0110999	Joubert syndrome 4		ISO	RGD:1351118	D	RGD:9068941	20200609	RGD		DNA:mutations:exon, intron:multiple	PMID:15776426|REF_RGD_ID:11068164
12160370	NPHP4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:32865313|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Nephronophthisis familial juvenile | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Juvenile Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 1 | ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:11920287|PMID:12205563|PMID:12244321|PMID:15776426|PMID:16199547|PMID:17576681|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:24033266|PMID:25558065|PMID:25741868|PMID:26346198|PMID:27004616|PMID:27124789|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30120289|PMID:30143558|PMID:30586318|PMID:31589614|PMID:31964843|PMID:32865313|PMID:34216551|PMID:34426522|PMID:36090483|PMID:36990420|PMID:37431782|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:21068128|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25741868|PMID:26346198|PMID:28492532|PMID:36938085
12160370	NPHP4	nephrocystin 4	gene	DOID:0111113	nephronophthisis 2		ISO	RGD:1351118	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Infantile nephronophthisis	PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:7240710	20180130	OMIM			
12160370	NPHP4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 4	PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25326637|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:33532864|PMID:34295353|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111115	nephronophthisis 4		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NEPHRONOPHTHISIS 4 | ClinVar Annotator: match by term: NEPHRONOPHTHISIS 4, JUVENILE | ClinVar Annotator: match by term: Nephronophthisis 4	PMID:12205563|PMID:12244321|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:21068128|PMID:21866095|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23574405|PMID:23820649|PMID:24154662|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:31308072|PMID:31810733|PMID:33532864|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:0111128	focal segmental glomerulosclerosis 1		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal sclerosis with hyalinosis	PMID:25741868|PMID:28492532|PMID:31308072
12160370	NPHP4	nephrocystin 4	gene	DOID:10584	retinitis pigmentosa		IAGP		D	RGD:12801476	20250430	OMIA		Retinal atrophy - Cone-rod dystrophy, NPHP4-related	PMID:18687878|PMID:19392817|PMID:22065099|PMID:17324160|PMID:18326738|PMID:23998563|PMID:38028226|PMID:38334230
12160370	NPHP4	nephrocystin 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1351118	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:25741868|PMID:34906470
12160370	NPHP4	nephrocystin 4	gene	DOID:1074	kidney failure		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal insufficiency	PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:29127258|PMID:30143558|PMID:6837691|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:6837691|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:25741916|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:27854218|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:11920287|PMID:12205563|PMID:12244321|PMID:1248184|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17558407|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:21546380|PMID:21866095|PMID:22550138|PMID:22773737|PMID:23167750|PMID:23188109|PMID:23217326|PMID:23559409|PMID:24033266|PMID:24154662|PMID:25445212|PMID:25472526|PMID:25558065|PMID:25741868|PMID:26346198|PMID:26489029|PMID:26920127|PMID:27004616|PMID:27491411|PMID:28492532|PMID:28700940|PMID:29127258|PMID:30143558|PMID:31810733|PMID:32865313|PMID:34295353|PMID:34850017|PMID:36090483|PMID:6837691|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25640679|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:29127258|PMID:31308072|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12205563|PMID:15776426|PMID:16199547|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23559409|PMID:25640679|PMID:25741868|PMID:26489029|PMID:28492532|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:12712	nephronophthisis		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nephronophthisis | ClinVar Annotator: match by term: Nephronophthisis 8	PMID:12205563|PMID:15776426|PMID:16199547|PMID:16339905|PMID:17576681|PMID:17855640|PMID:17954299|PMID:18076122|PMID:21068128|PMID:22773737|PMID:23167750|PMID:23217326|PMID:23559409|PMID:23820649|PMID:25640679|PMID:25741868|PMID:26346198|PMID:26489029|PMID:28492532|PMID:31308072|PMID:31810733|PMID:33323469|PMID:33946315|PMID:34850017|PMID:36090483|PMID:36938085|PMID:37230223|PMID:37798099|PMID:9536098
12160370	NPHP4	nephrocystin 4	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal segmental glomerulosclerosis | ClinVar Annotator: match by term: Glomerulosclerosis, focal	PMID:25741868|PMID:28492532|PMID:31308072
12160370	NPHP4	nephrocystin 4	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	
12160370	NPHP4	nephrocystin 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1351118	D	RGD:9068941	20200609	RGD		DNA:missense mutations: :multiple	PMID:22550138|REF_RGD_ID:11537354
12160370	NPHP4	nephrocystin 4	gene	DOID:1909	melanoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160370	NPHP4	nephrocystin 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:2975	cystic kidney disease		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cystic renal disease	PMID:12205563|PMID:18076122|PMID:23559409|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1351118	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160370	NPHP4	nephrocystin 4	gene	DOID:5223	infertility		ISO	RGD:1351118	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:12205563|PMID:12244321|PMID:23559409|PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:557	kidney disease		ISO	RGD:1351118	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: renal disease	PMID:12205563|PMID:15776426|PMID:16339905|PMID:22773737|PMID:23217326|PMID:23820649|PMID:25741868|PMID:26346198|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:5723	optic atrophy		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12160370	NPHP4	nephrocystin 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160370	NPHP4	nephrocystin 4	gene	DOID:576	proteinuria		ISO	RGD:1351118	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:25741868|PMID:28492532
12160370	NPHP4	nephrocystin 4	gene	DOID:630	genetic disease		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36090483|PMID:37230223
12160370	NPHP4	nephrocystin 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160370	NPHP4	nephrocystin 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:12205563|PMID:16199547|PMID:21068128|PMID:23559409|PMID:25741868|PMID:27124789|PMID:28492532|PMID:30120289|PMID:31589614|PMID:31964843
12160370	NPHP4	nephrocystin 4	gene	DOID:9003566	Mesothelioma		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12160370	NPHP4	nephrocystin 4	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12160370	NPHP4	nephrocystin 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160370	NPHP4	nephrocystin 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351118	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:10534	stomach cancer		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:3070	high grade glioma		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:5041	esophageal cancer		ISO	RGD:1605088	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160430	MON1B	MON1 homolog B, secretory trafficking associated	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605088	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160443	ZNF668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	PMID:34313816
12160443	ZNF668	zinc finger protein 668	gene	DOID:10907	microcephaly		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Progressive microcephaly	
12160443	ZNF668	zinc finger protein 668	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160443	ZNF668	zinc finger protein 668	gene	DOID:2661	myoepithelioma		ISO	RGD:1605939	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12160443	ZNF668	zinc finger protein 668	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605939	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12160443	ZNF668	zinc finger protein 668	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1605939	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive | ClinVar Annotator: match by term: failure to thrive	
12160443	ZNF668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:7240710	20230505	OMIM			
12160443	ZNF668	zinc finger protein 668	gene	DOID:9005566	NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES		ISO	RGD:1605939	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies | ClinVar Annotator: match by term: ZNF668-related condition	PMID:25741868
12160443	ZNF668	zinc finger protein 668	gene	DOID:9005834	Ependymomas		ISO	RGD:1605939	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26075792
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:0112104	Sotos syndrome 3		ISO	RGD:1313637	D	RGD:9068941	20200609	RGD			PMID:25753423|REF_RGD_ID:11055469
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:12449	aplastic anemia		ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		protein:decreased expression:bone marrow (human)	PMID:28968996|REF_RGD_ID:14696669
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:1324	lung cancer		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:1405	primary angle-closure glaucoma		ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		protein:increased expression:aqueous humor of eyeball (human)	PMID:29332228|REF_RGD_ID:14696671
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:3910	lung adenocarcinoma	severity	ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:12036940|REF_RGD_ID:14696682
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1313636	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:5386	lung adenoma		ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (human)	PMID:14647414|REF_RGD_ID:10047051
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:25724728|REF_RGD_ID:14696679
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:9008023	Memory Disorders		ISO	RGD:1313637	D	RGD:9068941	20200609	RGD			PMID:21191042|REF_RGD_ID:14696672
12160457	ANAPC2	anaphase promoting complex subunit 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313636	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood (human)	PMID:26046517|REF_RGD_ID:11067888
12160474	MIF4GD	MIF4G domain containing	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160474	MIF4GD	MIF4G domain containing	gene	DOID:1324	lung cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160474	MIF4GD	MIF4G domain containing	gene	DOID:4362	cervical cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160474	MIF4GD	MIF4G domain containing	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12160474	MIF4GD	MIF4G domain containing	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12160474	MIF4GD	MIF4G domain containing	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:1115	sarcoma		ISO	RGD:736229	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160494	MLST8	MTOR associated protein, LST8 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:1115	sarcoma		ISO	RGD:1321373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:1324	lung cancer		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1321373	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12160509	FBXW2	F-box and WD repeat domain containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321373	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160519	UCN	urocortin	gene	DOID:0060180	colitis		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		mRNA:altered expression:distal colon (rat)	PMID:21330446|REF_RGD_ID:5490987
12160519	UCN	urocortin	gene	DOID:0080855	Parkinsonism		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:21362449|REF_RGD_ID:5508188
12160519	UCN	urocortin	gene	DOID:10763	hypertension		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20237592
12160519	UCN	urocortin	gene	DOID:10763	hypertension		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		associated with Pregnancy Complications;protein:increased expression:plasma	PMID:16915033|REF_RGD_ID:1642775
12160519	UCN	urocortin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD			PMID:14577573|REF_RGD_ID:1580792
12160519	UCN	urocortin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD			PMID:14577573|REF_RGD_ID:1580792
12160519	UCN	urocortin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle	PMID:11087261|REF_RGD_ID:1642796
12160519	UCN	urocortin	gene	DOID:2030	anxiety disorder		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16488545
12160519	UCN	urocortin	gene	DOID:2841	asthma		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		associated with Hypersensitivity;mRNA, protein:increased expression:lung	PMID:16427607|REF_RGD_ID:1642781
12160519	UCN	urocortin	gene	DOID:6000	congestive heart failure		ISO	RGD:1349219	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (human)	PMID:19808377|REF_RGD_ID:5490589
12160519	UCN	urocortin	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3929	D	RGD:9068941	20200609	RGD		associated with Hypertension;mRNA:increased expression:heart left ventricle	PMID:11087261|REF_RGD_ID:1642796
12160519	UCN	urocortin	gene	DOID:9005372	Inflammation		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10213916
12160519	UCN	urocortin	gene	DOID:9006024	Hypotension		ISO	RGD:1349219	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10213916
12160519	UCN	urocortin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349219	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160519	UCN	urocortin	gene	DOID:9007730	Burns		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:16125201|REF_RGD_ID:1642782
12160519	UCN	urocortin	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:15806110|REF_RGD_ID:1642783
12160519	UCN	urocortin	gene	DOID:9970	obesity	treatment	ISO	RGD:735588	D	RGD:9068941	20200609	RGD			PMID:17932219|REF_RGD_ID:1642774
12160519	Ucn	urocortin	gene	DOID:12918	thromboangiitis obliterans		ISO	RGD:3929	D	RGD:9068941	20200609	RGD			PMID:19572944|REF_RGD_ID:5508315
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:10534	stomach cancer		ISO	RGD:1316359	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:1115	sarcoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:4362	cervical cancer		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:5041	esophageal cancer		ISO	RGD:1316359	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1316359	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160532	NAAA	N-acylethanolamine acid amidase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316359	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:4362	cervical cancer		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160546	MR1	major histocompatibility complex, class I-related	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343564	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:0051061	stroke		ISO	RGD:733586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:1059	intellectual disability		ISO	RGD:733586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:1115	sarcoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:1909	melanoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:733587	D	RGD:9068941	20250301	RGD			PMID:15199376|REF_RGD_ID:597830059
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733586	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:5041	esophageal cancer		ISO	RGD:733586	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733586	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12160554	RGS7	regulator of G protein signaling 7	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3570	D	RGD:9068941	20200609	RGD			PMID:12358788|REF_RGD_ID:13524540
12160588	BMP3	bone morphogenetic protein 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160588	BMP3	bone morphogenetic protein 3	gene	DOID:5041	esophageal cancer		ISO	RGD:735356	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160588	BMP3	bone morphogenetic protein 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160588	BMP3	bone morphogenetic protein 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735356	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160588	BMP3	bone morphogenetic protein 3	gene	DOID:9001547	Tibial Fractures		ISO	RGD:2212	D	RGD:9068941	20200609	RGD		protein:increased expression:tibia	PMID:16651391|REF_RGD_ID:2289037
12160633	MARVELD1	MARVEL domain containing 1	gene	DOID:0080600	COVID-19		ISO	RGD:1353944	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12160633	MARVELD1	MARVEL domain containing 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1353944	D	RGD:9068941	20220210	CTD		CTD Direct Evidence: marker/mechanism	PMID:31205918
12160633	MARVELD1	MARVEL domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160645	MTERF2	mitochondrial transcription termination factor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160645	MTERF2	mitochondrial transcription termination factor 2	gene	DOID:0080600	COVID-19		ISO	RGD:1604591	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12160675	FBXO9	F-box protein 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160675	FBXO9	F-box protein 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160675	FBXO9	F-box protein 9	gene	DOID:1324	lung cancer		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160675	FBXO9	F-box protein 9	gene	DOID:1909	melanoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160675	FBXO9	F-box protein 9	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160675	FBXO9	F-box protein 9	gene	DOID:3275	thymoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160675	FBXO9	F-box protein 9	gene	DOID:4362	cervical cancer		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160675	FBXO9	F-box protein 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160675	FBXO9	F-box protein 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160675	FBXO9	F-box protein 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1321245	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12160675	FBXO9	F-box protein 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160675	FBXO9	F-box protein 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321245	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1618265	D	RGD:9068941	20230413	MouseDO			
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:0070583	spermatogenic failure 84		ISO	RGD:1323021	D	RGD:7240710	20230607	OMIM			
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:0070583	spermatogenic failure 84		ISO	RGD:1323021	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 84 | ClinVar Annotator: match by term: Spermatogenic failure 84	PMID:25741868|PMID:35387802
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:1324	lung cancer		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:1909	melanoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:4362	cervical cancer		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:5041	esophageal cancer		ISO	RGD:1323021	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:758	visceral heterotaxy 5		ISO	RGD:1323021	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Situs inversus	PMID:25741868
12160700	CFAP61	cilia and flagella associated protein 61	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:10534	stomach cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:1115	sarcoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:1324	lung cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:4362	cervical cancer		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:5041	esophageal cancer		ISO	RGD:1319928	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319928	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26539891
12160743	KAT14	lysine acetyltransferase 14	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319928	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:34008892|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20623375|PMID:20675713|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:34008892|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:36522254
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37526466|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, TMEM5-RELATED | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10838249|PMID:11053680|PMID:11071142|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16288869|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:16786213|PMID:17055682|PMID:17113772|PMID:17336067|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:17994539|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19833706|PMID:19835634|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20236121|PMID:20623375|PMID:20675713|PMID:20961758|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21270786|PMID:21293871|PMID:21296577|PMID:21816046|PMID:21886772|PMID:21970816|PMID:22264518|PMID:22451200|PMID:22981120|PMID:22983245|PMID:22995991|PMID:23420653|PMID:23576288|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26986070|PMID:26990548|PMID:27142102|PMID:27166760|PMID:27302555|PMID:27363342|PMID:27439679|PMID:27627455|PMID:27671536|PMID:27711214|PMID:27848944|PMID:27854218|PMID:27884173|PMID:27981572|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:28931339|PMID:29065428|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30293248|PMID:30417025|PMID:30564623|PMID:30816495|PMID:30919934|PMID:31041397|PMID:31069529|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31862442|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32746448|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34602496|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35741838|PMID:36522254|PMID:37154180|PMID:37526466|PMID:37688281|PMID:38374194|PMID:39326416|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17559086|PMID:18060779|PMID:18414213|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18691338|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20236121|PMID:20623375|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:21816046|PMID:21886772|PMID:22264518|PMID:22983245|PMID:23576288|PMID:23591631|PMID:23757202|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24447024|PMID:24556424|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26363967|PMID:26436962|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:26990548|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28479227|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:32342672|PMID:32351701|PMID:32429923|PMID:32576226|PMID:32864802|PMID:32914449|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34008892|PMID:34509255|PMID:34653404|PMID:34935411|PMID:35239206|PMID:35557983|PMID:35741838|PMID:37273706|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38127101|PMID:38374194|PMID:39326416|PMID:39678382|PMID:41315541
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15833426|PMID:15883334|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16717227|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17994539|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20236121|PMID:20623375|PMID:21293871|PMID:21886772|PMID:22323514|PMID:22451200|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26436962|PMID:26467025|PMID:26923585|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28482373|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:29065428|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31671740|PMID:31931849|PMID:32342672|PMID:32351701|PMID:32403337|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34426522|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35741838|PMID:37154180|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38374194|PMID:38406381|PMID:39326416|PMID:39408683|PMID:39678382|PMID:41315541
12160757	FKRP	fukutin related protein	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:1464708|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:15833426|PMID:15883334|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17336067|PMID:17446099|PMID:17554798|PMID:17559086|PMID:18414213|PMID:18639457|PMID:18645206|PMID:18671187|PMID:18691338|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19955119|PMID:20236121|PMID:20623375|PMID:21293871|PMID:21816046|PMID:21886772|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24556424|PMID:25135358|PMID:25741868|PMID:25802880|PMID:25987458|PMID:26320847|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27363342|PMID:27439679|PMID:27671536|PMID:27854218|PMID:27884173|PMID:28112097|PMID:28454995|PMID:28492532|PMID:28569743|PMID:28629604|PMID:28688748|PMID:30003095|PMID:30107846|PMID:30210031|PMID:30919934|PMID:31268217|PMID:32342672|PMID:32351701|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33077954|PMID:33146414|PMID:33200426|PMID:33250842|PMID:33513091|PMID:34440373|PMID:34509255|PMID:34935411|PMID:35741838|PMID:37154180|PMID:37516995|PMID:37526466|PMID:37730220|PMID:38374194|PMID:38406381|PMID:39326416|PMID:39678382|PMID:41315541
12160757	FKRP	fukutin related protein	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1314134	D	RGD:9068941	20220825	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
12160757	FKRP	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16368217|PMID:16717227|PMID:17994539|PMID:18832576|PMID:21816046|PMID:22451200|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26990548|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
12160757	FKRP	fukutin related protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:0060260	ptosis		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:25741868|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17554798|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:30564623|PMID:30919934|PMID:31268217|PMID:32419263|PMID:32746448|PMID:34008892|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21293871|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34653404
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-Girdle Muscular Dystrophy, Recessive	PMID:10838249|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24033266|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:33200426|PMID:34008892|PMID:34440373|PMID:34653404|PMID:35239206
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, recessive	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34653404|PMID:35239206
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833432|PMID:15883334|PMID:15886712|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:16786213|PMID:17336067|PMID:17554798|PMID:17952692|PMID:18036232|PMID:18060779|PMID:18160674|PMID:18593008|PMID:18639457|PMID:18645206|PMID:18671187|PMID:19155270|PMID:19299310|PMID:19556129|PMID:19705481|PMID:19820980|PMID:19835634|PMID:19900540|PMID:20961759|PMID:21220724|PMID:21228398|PMID:21296577|PMID:21970816|PMID:22264518|PMID:22981120|PMID:23576288|PMID:23591631|PMID:24447024|PMID:25048216|PMID:25135358|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:26363967|PMID:26467025|PMID:26574668|PMID:26833294|PMID:26923585|PMID:27302555|PMID:27439679|PMID:27848944|PMID:28112097|PMID:28479227|PMID:28492532|PMID:28688748|PMID:29065428|PMID:29101272|PMID:29382405|PMID:30003095|PMID:30232282|PMID:30564623|PMID:30919934|PMID:31041397|PMID:31268217|PMID:31638414|PMID:31671740|PMID:31931849|PMID:32115343|PMID:32342672|PMID:32351701|PMID:32419263|PMID:32429923|PMID:32746448|PMID:32914449|PMID:33200426|PMID:34008892|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34653404|PMID:35239206|PMID:36522254|PMID:39326416
12160757	FKRP	fukutin related protein	gene	DOID:0110274	autosomal recessive limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy	PMID:16368217|PMID:16634037|PMID:21970816|PMID:25741868|PMID:28492532|PMID:28688748|PMID:29101272|PMID:37516995|PMID:38374194|PMID:41315541
12160757	FKRP	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
12160757	FKRP	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy type 2I | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, FRKP-RELATED	PMID:10838249|PMID:11592034|PMID:11741828|PMID:12471058|PMID:12654965|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14523375|PMID:14647208|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15121789|PMID:15574464|PMID:15580560|PMID:15833426|PMID:15883334|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17113772|PMID:17351538|PMID:17446099|PMID:17554798|PMID:17559086|PMID:17952692|PMID:18036232|PMID:18160674|PMID:18414213|PMID:18639457|PMID:18671187|PMID:18691338|PMID:18752264|PMID:18832576|PMID:19155270|PMID:19244252|PMID:19299310|PMID:19556129|PMID:19833706|PMID:19900540|PMID:19917824|PMID:19955119|PMID:20675713|PMID:21296577|PMID:21816046|PMID:22983245|PMID:23420653|PMID:23591631|PMID:23757202|PMID:23800702|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24257234|PMID:24556424|PMID:25135358|PMID:25252238|PMID:25560911|PMID:25741868|PMID:25802880|PMID:25976249|PMID:25987458|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27142102|PMID:27439679|PMID:27627455|PMID:27711214|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:2868874|PMID:28688748|PMID:28931339|PMID:29101272|PMID:29382405|PMID:29858056|PMID:30003095|PMID:30060766|PMID:30107846|PMID:30232282|PMID:30417025|PMID:30564623|PMID:30919934|PMID:31069529|PMID:31268217|PMID:31638414|PMID:32115343|PMID:32153140|PMID:32342672|PMID:32419263|PMID:32429923|PMID:32576226|PMID:32864802|PMID:33051673|PMID:33146414|PMID:33200426|PMID:33513091|PMID:33961310|PMID:34379075|PMID:34440373|PMID:34509255|PMID:34935411|PMID:34958143|PMID:35239206|PMID:36399172|PMID:36522254|PMID:36575883|PMID:37688281|PMID:37927270|PMID:37974208|PMID:38406381|PMID:39678382|PMID:39891418|PMID:6368217
12160757	FKRP	fukutin related protein	gene	DOID:0110299	autosomal recessive limb-girdle muscular dystrophy type 2I	treatment	ISO	RGD:1314133	D	RGD:9068941	20200609	RGD			PMID:25048216|REF_RGD_ID:11667961
12160757	FKRP	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
12160757	FKRP	fukutin related protein	gene	DOID:0110635	muscular dystrophy-dystroglycanopathy type B5		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy type B5	PMID:11592034|PMID:12707439|PMID:14652796|PMID:15060126|PMID:15574464|PMID:16143867|PMID:16344347|PMID:16368217|PMID:16476814|PMID:17559086|PMID:18414213|PMID:18671187|PMID:18752264|PMID:19244252|PMID:19955119|PMID:20961759|PMID:21816046|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24556424|PMID:25741868|PMID:25802880|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:31268217|PMID:33513091|PMID:34440373|PMID:34935411|PMID:36522254|PMID:38406381
12160757	FKRP	fukutin related protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:14652796|PMID:16368217|PMID:18414213|PMID:21816046|PMID:24033266|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532|PMID:34935411
12160757	FKRP	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:7240710	20180130	OMIM			
12160757	FKRP	fukutin related protein	gene	DOID:0111241	congenital muscular dystrophy-dystroglycanopathy type A5		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED	PMID:11592034|PMID:12666124|PMID:12707425|PMID:12707439|PMID:14652796|PMID:14742276|PMID:15060126|PMID:15574464|PMID:16344347|PMID:16368217|PMID:16476814|PMID:16634037|PMID:17559086|PMID:18414213|PMID:18639457|PMID:18671187|PMID:18752264|PMID:19244252|PMID:19299310|PMID:19955119|PMID:21816046|PMID:23420653|PMID:23757202|PMID:23894383|PMID:24033266|PMID:24139536|PMID:24556424|PMID:25741868|PMID:25802880|PMID:26436962|PMID:26467025|PMID:26923585|PMID:26990548|PMID:27854218|PMID:27884173|PMID:28454995|PMID:28492532|PMID:28569743|PMID:28688748|PMID:33513091|PMID:34440373|PMID:34935411|PMID:38406381
12160757	FKRP	fukutin related protein	gene	DOID:11155	hypohidrosis		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypohidrosis	PMID:25741868|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:11592034|PMID:12707439|PMID:15060126|PMID:16344347|PMID:16476814|PMID:17559086|PMID:18752264|PMID:23757202|PMID:25741868|PMID:26467025|PMID:27854218|PMID:27884173|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:16368217|PMID:21816046|PMID:24556424|PMID:25741868|PMID:26467025|PMID:26923585|PMID:26990548|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11741828|PMID:16344347|PMID:16717227|PMID:17994539|PMID:18832576|PMID:22451200|PMID:25741868|PMID:26467025|PMID:27884173|PMID:28482373|PMID:28492532|PMID:28688748|PMID:32403337|PMID:37154180
12160757	FKRP	fukutin related protein	gene	DOID:1826	epilepsy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
12160757	FKRP	fukutin related protein	gene	DOID:2841	asthma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160757	FKRP	fukutin related protein	gene	DOID:9000590	Dyspnea		ISO	RGD:1314133	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
12160757	FKRP	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:9068941	20200609	RGD			PMID:21224063|REF_RGD_ID:11667970
12160757	FKRP	fukutin related protein	gene	DOID:9000887	Muscular Dystrophy, Animal		ISO	RGD:1314134	D	RGD:9068941	20200609	RGD		DNA:missense mutation:exon:p.P448L (1343C>T) (mouse)	PMID:20675713|REF_RGD_ID:11667960
12160757	FKRP	fukutin related protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonischemic cardiomyopathy	PMID:24139536|PMID:25741868|PMID:28492532|PMID:33513091
12160757	FKRP	fukutin related protein	gene	DOID:9005077	Joint Instability		ISO	RGD:1314133	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
12160757	FKRP	fukutin related protein	gene	DOID:9005532	Muscle Weakness		ISO	RGD:1314133	D	RGD:9068941	20260709	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
12160757	FKRP	fukutin related protein	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
12160757	FKRP	fukutin related protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:9008023	Memory Disorders		ISO	RGD:1314133	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314133	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:25802880|PMID:26467025|PMID:28492532|PMID:28569743
12160757	FKRP	fukutin related protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314133	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12160757	FKRP	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314133	D	RGD:9068941	20260813	CTD		CTD Direct Evidence: marker/mechanism	PMID:29571322
12160757	FKRP	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314133	D	RGD:9068941	20260813	RGD		DNA:missense mutations, nonsense mutations:exon:multiple	PMID:11592034|REF_RGD_ID:11064865
12160757	Fkrp	fukutin related protein	gene	DOID:9884	muscular dystrophy		ISO	RGD:1314134	D	RGD:9068941	20260813	MouseDO		OMIM:158800 | OMIM:159050 | OMIM:309930 | OMIM:309950 | OMIM:310000 | OMIM:310095 | OMIM:600416	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:25741868|PMID:28492532
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:1322216	D	RGD:9068941	20200609	RGD		DNA:translocation: :	PMID:9044825|REF_RGD_ID:10450608
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adenoid cystic carcinoma	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:1037	lymphoid leukemia		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:10534	stomach cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:10754	otitis media		ISO	RGD:1322217	D	RGD:9068941	20200609	RGD			PMID:26611891|REF_RGD_ID:11054805
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:10754	otitis media		ISO	RGD:1322217	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:12450	pancytopenia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: pancytopenia	PMID:25741868|PMID:34355501
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: tumor	PMID:25741868|PMID:37149759
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:1588	thrombocytopenia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:25741868|PMID:32581362
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:1657	ventricular septal defect		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:1682	congenital heart disease		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:25741868
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:1788	peritoneal mesothelioma		ISO	RGD:1322216	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peritoneal mesothelioma	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:4362	cervical cancer		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:5041	esophageal cancer		ISO	RGD:1322216	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:630	genetic disease		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:8692	myeloid leukemia		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29047144
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9002720	Splenomegaly		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27725143
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20512145
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9006251	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1		ISO	RGD:1322216	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 1	PMID:25741868
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9007517	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2		ISO	RGD:1322216	D	RGD:7240710	20180130	OMIM			
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9007517	Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2		ISO	RGD:1322216	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MECOM-related condition | ClinVar Annotator: match by term: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2	PMID:17576681|PMID:25741868|PMID:26581901|PMID:28492532|PMID:29146883|PMID:29200407|PMID:29519864|PMID:29540340|PMID:35219593|PMID:36658419|PMID:37407873|PMID:9536098
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322216	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23770046
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:9827	radioulnar synostosis		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Radioulnar synostosis	PMID:25741868
12160777	MECOM	MDS1 and EVI1 complex locus	gene	DOID:988	mitral valve prolapse		ISO	RGD:1322216	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitral valve prolapse	PMID:25741868
12160811	SMTNL2	smoothelin like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160811	SMTNL2	smoothelin like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160811	SMTNL2	smoothelin like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160811	SMTNL2	smoothelin like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605229	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160823	LOC609523	signal-regulatory protein beta-1	gene	DOID:1324	lung cancer		ISO	RGD:1604807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160823	LOC609523	signal-regulatory protein beta-1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160823	LOC609523	signal-regulatory protein beta-1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604807	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160839	CCDC157	coiled-coil domain containing 157	gene	DOID:0070311	oligoasthenoteratozoospermia		ISO	RGD:1618178	D	RGD:9068941	20240404	MouseDO			
12160839	CCDC157	coiled-coil domain containing 157	gene	DOID:1115	sarcoma		ISO	RGD:1604878	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0050117	disease by infectious agent		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0050562	West syndrome		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0050742	nicotine dependence	treatment	ISO	RGD:2848	D	RGD:9068941	20231207	RGD			PMID:22342986|REF_RGD_ID:401901205
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0050847	sleep apnea		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0060001	withdrawal disorder		ISO	RGD:2848	D	RGD:9068941	20231130	RGD		mRNA:decreased editing:hippocampus	PMID:26031442|REF_RGD_ID:401901090
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:0060001	withdrawal disorder		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17105947
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:10283	prostate cancer		ISO	RGD:736842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:10283	prostate cancer		ISO	RGD:736842	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:10534	stomach cancer		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:1115	sarcoma		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:11983	Prader-Willi syndrome		ISO	RGD:10748	D	RGD:9068941	20220825	MouseDO		OMIM:176270	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:12849	autistic disorder		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:1470	major depressive disorder	treatment	ISO	RGD:2848	D	RGD:9068941	20200609	RGD		mRNA:increased editing	PMID:16005997|REF_RGD_ID:1624993
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:2848	D	RGD:9068941	20231123	RGD			PMID:24041931|REF_RGD_ID:401900761
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:1826	epilepsy		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:2030	anxiety disorder		ISO	RGD:2848	D	RGD:9068941	20200609	RGD			PMID:17074317|REF_RGD_ID:1625000
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:2841	asthma		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:2841	asthma	severity	ISO	RGD:736842	D	RGD:9068941	20260129	RGD		DNA:SNP: :rs518147	PMID:37238670|REF_RGD_ID:632517855
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:303	substance-related disorder		ISO	RGD:2848	D	RGD:9068941	20200609	RGD			PMID:16474401|REF_RGD_ID:2292548
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:3312	bipolar disorder		ISO	RGD:736842	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C23S (human)	PMID:8823764|REF_RGD_ID:1358737
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:5419	schizophrenia	treatment	ISO	RGD:736842	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.C23S (human)	PMID:8742444|REF_RGD_ID:1358736
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:630	genetic disease		ISO	RGD:736842	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:809	cocaine abuse	treatment	ISO	RGD:2848	D	RGD:9068941	20231130	RGD			PMID:20814782|REF_RGD_ID:401901179
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9000495	Tremor		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tremor	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9000641	Pain		ISO	RGD:2848	D	RGD:9068941	20200609	RGD			PMID:17451674|REF_RGD_ID:1624996
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9000972	Fever		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fever	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:2848	D	RGD:9068941	20200609	RGD		protein:increased expression:brainstem, cerebral cortex	PMID:17258772|REF_RGD_ID:1624998
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9002362	Hyperkinesis		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:19347958
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9003126	Hallucinations		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual hallucination	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9004657	Weight Gain		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19434072|PMID:19997080
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9005968	Neuralgia		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28011743
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17632216|PMID:18515891|PMID:19142101
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:736842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10748	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9970	obesity		ISO	RGD:736842	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17702092|PMID:19142110
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9970	obesity	susceptibility	ISO	RGD:736842	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-759C>T	PMID:15048662|REF_RGD_ID:1624991
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9970	obesity	susceptibility	ISO	RGD:736842	D	RGD:9068941	20200609	RGD		associated with Schizophrenia and Psychotic Disorders;DNA:polymorphisms:promoter:multiple	PMID:17016522|REF_RGD_ID:1624982
12160870	HTR2C	5-hydroxytryptamine receptor 2C	gene	DOID:9975	cocaine dependence	treatment	ISO	RGD:2848	D	RGD:9068941	20231118	RGD			PMID:23336050|REF_RGD_ID:401900743
12160887	ATF4	activating transcription factor 4	gene	DOID:0060478	Zika fever		ISO	RGD:733713	D	RGD:9068941	20200702	RGD		mRNA:increased expression:brain	PMID:30241539|REF_RGD_ID:32733625
12160887	ATF4	activating transcription factor 4	gene	DOID:10286	prostate carcinoma	treatment	ISO	RGD:733712	D	RGD:9068941	20200609	RGD			PMID:25680860|REF_RGD_ID:13504680
12160887	ATF4	activating transcription factor 4	gene	DOID:11132	prostatic hypertrophy		ISO	RGD:733713	D	RGD:9068941	20200609	RGD			PMID:28988820|REF_RGD_ID:13504679
12160887	ATF4	activating transcription factor 4	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
12160887	ATF4	activating transcription factor 4	gene	DOID:3275	thymoma		ISO	RGD:733712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160887	ATF4	activating transcription factor 4	gene	DOID:5154	borna disease		ISO	RGD:621863	D	RGD:9068941	20200702	RGD		protein:increased expression:cerebellum	PMID:16912310|REF_RGD_ID:32733622
12160887	ATF4	activating transcription factor 4	gene	DOID:5453	pulmonary venoocclusive disease		ISO	RGD:621863	D	RGD:9068941	20200903	RGD		protein:increased expression:lung	PMID:32209028|REF_RGD_ID:38549370
12160887	ATF4	activating transcription factor 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733712	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160887	ATF4	activating transcription factor 4	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29793971
12160887	ATF4	activating transcription factor 4	gene	DOID:9002669	Hypoxia		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
12160887	ATF4	activating transcription factor 4	gene	DOID:9005749	Necrosis		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14604972
12160887	ATF4	activating transcription factor 4	gene	DOID:9452	steatotic liver disease		ISO	RGD:733712	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27664470
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1309874	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver,serum	PMID:23507574|REF_RGD_ID:15036822
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1320450	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:23507574|REF_RGD_ID:15036822
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:1320451	D	RGD:9068941	20200609	RGD			PMID:23507574|REF_RGD_ID:15036822
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:1320450	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:34398343
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:10603	glucose intolerance		ISO	RGD:1320450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22355640
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:10825	essential hypertension		ISO	RGD:1320450	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24047472|REF_RGD_ID:15036820
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:11612	polycystic ovary syndrome	treatment	ISO	RGD:1309874	D	RGD:9068941	20200609	RGD			PMID:24762064|REF_RGD_ID:15036823
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:1324	lung cancer		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:2999	granulosa cell tumor		ISO	RGD:1320450	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29653259
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320450	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1309874	D	RGD:9068941	20200609	RGD		protein:increased expression:multiple:	PMID:30873215|REF_RGD_ID:15036825
12160894	RARRES2	retinoic acid receptor responder 2	gene	DOID:9970	obesity		ISO	RGD:1309874	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:30873215|PMID:31284705|REF_RGD_ID:15036824|REF_RGD_ID:15036825
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:37178278|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25326637|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27532257|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:35413566|PMID:35600473|PMID:37178278|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:24938736|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27854218|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:32009526|PMID:32150461|PMID:32233023|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35413566|PMID:35588295|PMID:35600473|PMID:37178278|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: Familial cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16199547|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17576681|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18811822|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24123366|PMID:24503780|PMID:24558114|PMID:24938736|PMID:2526523|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26265630|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28301460|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28707430|PMID:28771489|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29247119|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30122538|PMID:30615648|PMID:30847666|PMID:30878466|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31785789|PMID:31838722|PMID:31977013|PMID:32009526|PMID:32150461|PMID:32233023|PMID:32259713|PMID:32646569|PMID:32681253|PMID:32746448|PMID:32789579|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33726816|PMID:33762593|PMID:33876311|PMID:33895855|PMID:34362124|PMID:35026164|PMID:35352813|PMID:35413566|PMID:35470680|PMID:35588295|PMID:35600473|PMID:35838873|PMID:37178278|PMID:37904629|PMID:762819|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:11748095|PMID:14519435|PMID:14722619|PMID:15673802|PMID:15877279|PMID:17576681|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:24123366|PMID:24558114|PMID:25611685|PMID:25741868|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28138913|PMID:28301460|PMID:28341588|PMID:28492532|PMID:28498465|PMID:28707430|PMID:29121657|PMID:29875424|PMID:29884292|PMID:30122538|PMID:30847666|PMID:30878466|PMID:31527676|PMID:31785789|PMID:31977013|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32746448|PMID:33495597|PMID:33762593|PMID:33895855|PMID:35352813|PMID:37178278|PMID:37904629|PMID:38270345|PMID:39584259|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy | ClinVar Annotator: match by term: PRKAG2 cardiac syndrome	PMID:11748095|PMID:14519435|PMID:14722619|PMID:15673802|PMID:15877279|PMID:17576681|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:24123366|PMID:24558114|PMID:25611685|PMID:25741868|PMID:27005929|PMID:27332903|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28138913|PMID:28341588|PMID:28492532|PMID:28498465|PMID:28707430|PMID:29121657|PMID:29875424|PMID:29884292|PMID:30847666|PMID:30878466|PMID:31527676|PMID:31785789|PMID:31977013|PMID:32009526|PMID:32150461|PMID:32646569|PMID:32746448|PMID:33495597|PMID:33762593|PMID:33895855|PMID:35352813|PMID:35413566|PMID:37178278|PMID:37904629|PMID:38270345|PMID:39584259|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:25741868|PMID:27532257|PMID:28492532|PMID:30847666|PMID:33762593|PMID:33895855|PMID:35581137
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0090101	lethal congenital glycogen storage disease of heart		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0090101	lethal congenital glycogen storage disease of heart		ISO	RGD:1346463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | ClinVar Annotator: match by term: Glycogen storage disease of heart, lethal congenital | ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart | ClinVar Annotator: match by term: PHOSPHORYLASE KINASE DEFICIENCY OF HEART	PMID:11371514|PMID:11407343|PMID:11748095|PMID:14519435|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15877279|PMID:16199547|PMID:16487706|PMID:16716659|PMID:16836667|PMID:17576681|PMID:18403758|PMID:20031621|PMID:22555271|PMID:23741347|PMID:23778007|PMID:23992123|PMID:24033266|PMID:25611685|PMID:25640679|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26284702|PMID:27189955|PMID:27532257|PMID:27621313|PMID:28087566|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28546535|PMID:28690312|PMID:28801758|PMID:29875424|PMID:30206291|PMID:30847666|PMID:30878466|PMID:31527676|PMID:32009526|PMID:32150461|PMID:32215636|PMID:32259713|PMID:32646569|PMID:32746448|PMID:32880476|PMID:33495597|PMID:33762593|PMID:33895855|PMID:36252119|PMID:37178278|PMID:37477868|PMID:38270345|PMID:39273120|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25326637|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28917552|PMID:29298659|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:32681253|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33895855|PMID:37904629
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1346463	D	RGD:8554872	20260714	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: PRKAG2-related cardiomyopathy	PMID:10355918|PMID:10820940|PMID:11371514|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16487706|PMID:16686673|PMID:16716659|PMID:16836667|PMID:17483151|PMID:17597581|PMID:17667862|PMID:17711718|PMID:17878938|PMID:18403758|PMID:19787389|PMID:19808419|PMID:20005292|PMID:20031621|PMID:20381067|PMID:20600102|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25092788|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26085771|PMID:26729852|PMID:27189955|PMID:27532257|PMID:27573176|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32314121|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473|PMID:37904629|PMID:7657794
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0110312	hypertrophic cardiomyopathy 6		ISO	RGD:1346463	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 6 | ClinVar Annotator: match by term: PRKAG2-related cardiomyopathy	PMID:11371514|PMID:11407343|PMID:11827995|PMID:14519435|PMID:14722619|PMID:15611370|PMID:15673802|PMID:16487706|PMID:16716659|PMID:16836667|PMID:17597581|PMID:19787389|PMID:20005292|PMID:20600102|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:25092788|PMID:25741868|PMID:25997934|PMID:26729852|PMID:27532257|PMID:28431061|PMID:28492532|PMID:28498465|PMID:30847666|PMID:31527676|PMID:32646569|PMID:32746448|PMID:33495597|PMID:33762593|PMID:33895855|PMID:37178278
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:0111101	renal cysts and diabetes syndrome		ISO	RGD:1346463	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Renal cysts and diabetes syndrome	PMID:23778007|PMID:23992123|PMID:24033266|PMID:25741868|PMID:28492532|PMID:28498465
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:10534	stomach cancer		ISO	RGD:1346463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:11748095|PMID:14722619|PMID:15877279|PMID:25611685|PMID:25741868|PMID:27621313|PMID:28492532|PMID:28801758
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, hypertrophic | ClinVar Annotator: match by term: Hypertrophic Cardiomyopathy | ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:11748095|PMID:11827995|PMID:14519435|PMID:14722619|PMID:15877279|PMID:16487706|PMID:17576681|PMID:17597581|PMID:18403758|PMID:20005292|PMID:20600102|PMID:24033266|PMID:25092788|PMID:25611685|PMID:25741868|PMID:26085771|PMID:26729852|PMID:27532257|PMID:27573176|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28801758|PMID:29121657|PMID:29247119|PMID:29875424|PMID:30165862|PMID:30336887|PMID:30847666|PMID:30878466|PMID:32009526|PMID:32150461|PMID:32314121|PMID:32646569|PMID:33495597|PMID:33762593|PMID:33895855|PMID:34362124|PMID:37178278|PMID:37466024|PMID:38270345|PMID:9536098
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:1324	lung cancer		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:1909	melanoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:2747	glycogen storage disease		ISO	RGD:1346463	D	RGD:9068941	20200609	RGD			PMID:15877279|REF_RGD_ID:1580717
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:3275	thymoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:7240710	20180130	OMIM			
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29253866|PMID:29298659|PMID:32746448
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24558114|PMID:25741868|PMID:25997934|PMID:27532257|PMID:27621313|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28917552|PMID:29121657|PMID:29298659|PMID:29875424|PMID:30847666|PMID:30959811|PMID:31513939|PMID:31527676|PMID:31737537|PMID:31838722|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33244021|PMID:33673806|PMID:33762593|PMID:35600473
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern | ClinVar Annotator: match by term: Wolff-Parkinson-White syndrome, childhood-onset	PMID:10355918|PMID:10820940|PMID:11407343|PMID:11407351|PMID:11586962|PMID:11748095|PMID:11827995|PMID:12015471|PMID:12397075|PMID:12546691|PMID:12716108|PMID:14519435|PMID:14691231|PMID:14722619|PMID:15611370|PMID:15673802|PMID:15766830|PMID:15877279|PMID:16051890|PMID:16275868|PMID:16339829|PMID:16686673|PMID:16836667|PMID:17483151|PMID:17667862|PMID:17711718|PMID:17878938|PMID:19808419|PMID:20031621|PMID:20381067|PMID:20888928|PMID:21409595|PMID:22555271|PMID:23778007|PMID:23829931|PMID:23992123|PMID:24033266|PMID:24352254|PMID:24503780|PMID:24558114|PMID:25611685|PMID:25741868|PMID:25997934|PMID:26333379|PMID:26496977|PMID:27532257|PMID:27600940|PMID:27621313|PMID:27864312|PMID:28341588|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28798025|PMID:28917552|PMID:29121657|PMID:29253866|PMID:29298659|PMID:29875424|PMID:30775854|PMID:30847666|PMID:30959811|PMID:31110529|PMID:31513939|PMID:31737537|PMID:31838722|PMID:32150461|PMID:32233023|PMID:32259713|PMID:32646569|PMID:32681253|PMID:32746448|PMID:33029862|PMID:33244021|PMID:33495597|PMID:33673806|PMID:33762593|PMID:33876311|PMID:33895855|PMID:35588295|PMID:35600473|PMID:37198425|PMID:37904629
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1346463	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Anomalous ventricular excitation syndrome | ClinVar Annotator: match by term: False bundle branch block syndrome | ClinVar Annotator: match by term: WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET | ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:11407343|PMID:11748095|PMID:14519435|PMID:14722619|PMID:15877279|PMID:16339829|PMID:22555271|PMID:23778007|PMID:23992123|PMID:24033266|PMID:24352254|PMID:25741868|PMID:27532257|PMID:27621313|PMID:28431061|PMID:28492532|PMID:28498465|PMID:28554332|PMID:30847666|PMID:30959811|PMID:31527676|PMID:31589614|PMID:32646569|PMID:33762593|PMID:33895855|PMID:37496383
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:24033266|PMID:25741868|PMID:27532257|PMID:28492532
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1346463	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:25741868|PMID:28492532|PMID:39584259
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:24033266|PMID:25741868|PMID:28492532|PMID:31527676
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160905	PRKAG2	protein kinase AMP-activated non-catalytic subunit gamma 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160926	TBX3	T-box transcription factor 3	gene	DOID:0051061	stroke		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29531354
12160926	TBX3	T-box transcription factor 3	gene	DOID:0060614	ulnar-mammary syndrome		ISO	RGD:1345948	D	RGD:7240710	20180130	OMIM			
12160926	TBX3	T-box transcription factor 3	gene	DOID:0060614	ulnar-mammary syndrome		ISO	RGD:1345948	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: TBX3-related condition | ClinVar Annotator: match by term: ULNAR-MAMMARY SYNDROME | ClinVar Annotator: match by term: Ulnar-mammary syndrome	PMID:11689487|PMID:12668170|PMID:16892408|PMID:16896345|PMID:17576681|PMID:25741868|PMID:28145909|PMID:28492532|PMID:31669645|PMID:39788453|PMID:9536098
12160926	TBX3	T-box transcription factor 3	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:stomach (human)	PMID:27553355|REF_RGD_ID:151361120
12160926	TBX3	T-box transcription factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160926	TBX3	T-box transcription factor 3	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12160926	TBX3	T-box transcription factor 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12160926	TBX3	T-box transcription factor 3	gene	DOID:2394	ovarian cancer		ISO	RGD:1345948	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:17031801|REF_RGD_ID:2300329
12160926	TBX3	T-box transcription factor 3	gene	DOID:50	thyroid gland disease		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23397585
12160926	TBX3	T-box transcription factor 3	gene	DOID:5844	myocardial infarction		ISO	RGD:735203	D	RGD:9068941	20200609	RGD			PMID:19341743|REF_RGD_ID:5132891
12160926	TBX3	T-box transcription factor 3	gene	DOID:630	genetic disease		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12160926	TBX3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1557562	D	RGD:9068941	20220224	RGD			PMID:33577921|REF_RGD_ID:151361112
12160926	TBX3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		human cells in mouse model	PMID:22811581|PMID:26922018|REF_RGD_ID:151361123|REF_RGD_ID:151361132
12160926	TBX3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:30578408|REF_RGD_ID:151361122
12160926	TBX3	T-box transcription factor 3	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		protein:increased expression:liver (human)	PMID:29295731|REF_RGD_ID:151361114
12160926	TBX3	T-box transcription factor 3	gene	DOID:7566	eccrine porocarcinoma		ISO	RGD:1345948	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Eccrine porocarcinoma	
12160926	TBX3	T-box transcription factor 3	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12160926	TBX3	T-box transcription factor 3	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29662167
12160926	TBX3	T-box transcription factor 3	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207801
12160926	TBX3	T-box transcription factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160926	TBX3	T-box transcription factor 3	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1345948	D	RGD:9068941	20200609	RGD		Ulnar-Mammary Syndrome, OMIM:181450;DNA:deletions, missense mutations, frameshift mutations: :multiple	PMID:10330342|REF_RGD_ID:1601419
12160926	TBX3	T-box transcription factor 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12160926	TBX3	T-box transcription factor 3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21098263
12160926	TBX3	T-box transcription factor 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345948	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160926	TBX3	T-box transcription factor 3	gene	DOID:9009007	Tooth Abnormalities		ISO	RGD:1345948	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9207801
12160926	TBX3	T-box transcription factor 3	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1345948	D	RGD:9068941	20220224	RGD		mRNA,protein:increased expression:colorectum (human)	PMID:25628943|REF_RGD_ID:151361126
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:1115	sarcoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160938	PLEKHM3	pleckstrin homology domain containing M3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2292191	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:10534	stomach cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:1324	lung cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:4362	cervical cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:5041	esophageal cancer		ISO	RGD:1605407	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:6039	uveal melanoma		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12160952	IST1	IST1 factor associated with ESCRT-III	gene	DOID:9256	colorectal cancer		ISO	RGD:1605407	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:4362	cervical cancer		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:5041	esophageal cancer		ISO	RGD:1605877	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12160972	ANKRD54	ankyrin repeat domain 54	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605877	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:733295	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:11536077|PMID:24033266|PMID:25741868|PMID:28492532|PMID:36909829
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy | ClinVar Annotator: match by term: rod-cone dystrophy	PMID:11536077|PMID:14757870|PMID:15712225|PMID:16961972|PMID:17693388|PMID:20088482|PMID:21778272|PMID:24033266|PMID:24903488|PMID:25616768|PMID:25741868|PMID:25943428|PMID:26493561|PMID:26992781|PMID:28041643|PMID:28492532|PMID:30289319|PMID:30418171|PMID:30609409|PMID:30682209|PMID:30804581|PMID:31456290|PMID:31964843|PMID:32531858|PMID:32783370|PMID:32913385|PMID:33083013|PMID:34426522|PMID:35332618|PMID:36259723|PMID:36909829
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0050795	cone dystrophy		ISO	RGD:733295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cone dystrophy	PMID:18521937|PMID:25741868|PMID:28041643|PMID:28492532
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0110007	achromatopsia 2		IAGP		D	RGD:12801476	20250430	OMIA		Achromatopsia-2, CNGA3-related	PMID:26407004|PMID:38334230
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0110007	achromatopsia 2		ISO	RGD:733295	D	RGD:7240710	20180130	OMIM			
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:0110007	achromatopsia 2		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ACHROMATOPSIA 2 | ClinVar Annotator: match by term: Achromatopsia 2 | ClinVar Annotator: match by term: CNGA3-related condition | ClinVar Annotator: match by term: CNGA3-related retinopathy | ClinVar Annotator: match by term: ROD MONOCHROMATISM 2	PMID:11536077|PMID:12087135|PMID:12187427|PMID:12876837|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16199547|PMID:16319819|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:19592100|PMID:20088482|PMID:20238023|PMID:20506298|PMID:20549516|PMID:20852892|PMID:21778272|PMID:21901789|PMID:21911670|PMID:23082193|PMID:23105016|PMID:23362848|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24269407|PMID:24504161|PMID:24676353|PMID:24903488|PMID:24906859|PMID:25168900|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27820752|PMID:28041643|PMID:28159970|PMID:28282490|PMID:28341476|PMID:28492532|PMID:28559085|PMID:28991257|PMID:29053603|PMID:29099798|PMID:29165669|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30418171|PMID:30609409|PMID:30653986|PMID:30682209|PMID:30711023|PMID:30804581|PMID:31144483|PMID:31290651|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32368696|PMID:32531858|PMID:32783370|PMID:32913385|PMID:33083013|PMID:33749171|PMID:34426522|PMID:34449556|PMID:35119454|PMID:35260635|PMID:35332618|PMID:35456422|PMID:36259723|PMID:36284460|PMID:36833446|PMID:37372476|PMID:37558662|PMID:37689994|PMID:38219857|PMID:38841332|PMID:38927562|PMID:39287548|PMID:39462066|PMID:9662398
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:13399	color blindness		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Color vision defect	PMID:11536077|PMID:15743887|PMID:17693388|PMID:18521937|PMID:20238023|PMID:21911670|PMID:23082193|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30418171|PMID:30653986|PMID:30682209|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34449556|PMID:35119454|PMID:36833446
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:13911	achromatopsia		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Achromatopsia | ClinVar Annotator: match by term: achromatopsia	PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20079539|PMID:20088482|PMID:20238023|PMID:21778272|PMID:21911670|PMID:23082193|PMID:23972307|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24903488|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26992781|PMID:28159970|PMID:28492532|PMID:28559085|PMID:29618791|PMID:30418171|PMID:30609409|PMID:30653986|PMID:30682209|PMID:30804581|PMID:31144483|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33083013|PMID:34426522|PMID:34449556|PMID:35119454|PMID:35260635|PMID:36833446|PMID:36909829|PMID:37689994|PMID:9662398
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:3070	high grade glioma		ISO	RGD:733295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:4448	macular degeneration		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:11536077|PMID:15743887|PMID:17693388|PMID:18521937|PMID:20238023|PMID:21911670|PMID:23082193|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30418171|PMID:30653986|PMID:30682209|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34449556|PMID:35119454|PMID:36833446
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:5679	retinal disease		ISO	RGD:733295	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:14757870|PMID:23105016|PMID:24269407|PMID:24903488|PMID:25741868|PMID:26355662|PMID:26992781|PMID:28159970|PMID:28492532
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:5723	optic atrophy		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:11536077|PMID:15743887|PMID:17693388|PMID:18521937|PMID:20238023|PMID:21911670|PMID:23082193|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30418171|PMID:30653986|PMID:30682209|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34449556|PMID:35119454|PMID:36833446
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:630	genetic disease		ISO	RGD:733295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11536077|PMID:17265047|PMID:17693388|PMID:18521937|PMID:23105016|PMID:24033266|PMID:25616768|PMID:25741868|PMID:28492532|PMID:28559085|PMID:29618791|PMID:31456290|PMID:31964843|PMID:31980526|PMID:32531858|PMID:9662398
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:8501	fundus dystrophy		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:15980212|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:20506298|PMID:21778272|PMID:21911670|PMID:23082193|PMID:24033266|PMID:24148654|PMID:24504161|PMID:24676353|PMID:24903488|PMID:25283059|PMID:25525159|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26407004|PMID:26493561|PMID:26992781|PMID:27208204|PMID:28041643|PMID:28159970|PMID:28492532|PMID:28559085|PMID:29099798|PMID:29618791|PMID:30289319|PMID:30337596|PMID:30418171|PMID:30609409|PMID:30653986|PMID:30682209|PMID:30711023|PMID:30804581|PMID:31144483|PMID:31237654|PMID:31429209|PMID:31456290|PMID:3158961|PMID:31589614|PMID:31816670|PMID:31963381|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32531858|PMID:32581362|PMID:32783370|PMID:32913385|PMID:33083013|PMID:33546218|PMID:33562422|PMID:33749171|PMID:34426522|PMID:34449556|PMID:35119454|PMID:35260635|PMID:35332618|PMID:35456422|PMID:3625972|PMID:36259723|PMID:36833446|PMID:36980963|PMID:37689994|PMID:39462066|PMID:40529388|PMID:9662398
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:9003137	Photophobia		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:11536077|PMID:15743887|PMID:17693388|PMID:18521937|PMID:20238023|PMID:21911670|PMID:23082193|PMID:25741868|PMID:26992781|PMID:28492532|PMID:30418171|PMID:30653986|PMID:30682209|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:32531858|PMID:34449556|PMID:35119454|PMID:36833446
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:9003656	Achromatopsia 1		ISO	RGD:733295	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Rod monochromatism	PMID:11536077|PMID:14757870|PMID:15712225|PMID:15743887|PMID:16961972|PMID:17265047|PMID:17693388|PMID:18445228|PMID:18521937|PMID:20088482|PMID:20238023|PMID:21778272|PMID:21911670|PMID:23082193|PMID:24033266|PMID:24148654|PMID:24903488|PMID:25616768|PMID:25637600|PMID:25741868|PMID:25943428|PMID:26992781|PMID:28492532|PMID:28559085|PMID:29618791|PMID:30418171|PMID:30609409|PMID:30653986|PMID:30682209|PMID:30804581|PMID:31144483|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32531858|PMID:33083013|PMID:34426522|PMID:34449556|PMID:35119454|PMID:35260635|PMID:36833446|PMID:9662398
12160988	CNGA3	cyclic nucleotide gated channel subunit alpha 3	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:733295	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:14757870|PMID:24903488|PMID:25637600|PMID:27624628|PMID:28041643|PMID:28492532
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:0060058	lymphoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:10534	stomach cancer		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:1909	melanoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:303	substance-related disorder		ISO	RGD:1312480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:3275	thymoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:4362	cervical cancer		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:5041	esophageal cancer		ISO	RGD:1312480	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:630	genetic disease		ISO	RGD:1312480	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:670	amphetamine abuse		ISO	RGD:1312480	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161002	FKBP15	FKBP prolyl isomerase family member 15	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312480	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161048	SLC13A1	solute carrier family 13 member 1	gene	DOID:0070795	hyposulfatemia with skeletal dysplasia		ISO	RGD:1346909	D	RGD:7240710	20260805	OMIM			
12161048	SLC13A1	solute carrier family 13 member 1	gene	DOID:0070795	hyposulfatemia with skeletal dysplasia		ISO	RGD:1346909	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HYPOSULFATEMIA WITH SKELETAL DYSPLASIA	
12161073	ERI1	exoribonuclease 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:0080019	metaphyseal dysplasia		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Metaphyseal dysplasia	PMID:25741868|PMID:37352860
12161073	ERI1	exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:11193	syndactyly		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:25741868|PMID:37352860
12161073	ERI1	exoribonuclease 1	gene	DOID:13938	amenorrhea		ISO	RGD:1605015	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12161073	ERI1	exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12161073	ERI1	exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:7240710	20240306	OMIM			
12161073	ERI1	exoribonuclease 1	gene	DOID:9002288	Hoxha-Aliu syndrome		ISO	RGD:1605015	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: HOXHA-ALIU SYNDROME | ClinVar Annotator: match by term: Hoxha-Aliu syndrome	PMID:25741868|PMID:36208065|PMID:37352860
12161073	ERI1	exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161073	ERI1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:7240710	20240124	OMIM			
12161073	ERI1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:37352860
12161073	ERI1	exoribonuclease 1	gene	DOID:9005650	Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type		ISO	RGD:1605015	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ERI1-associated disorder | ClinVar Annotator: match by term: ERI1-related condition | ClinVar Annotator: match by term: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE | ClinVar Annotator: match by term: Spondyloepimetaphyseal dysplasia, Guo-Campeau type	PMID:25741868|PMID:28492532|PMID:37352860
12161073	ERI1	exoribonuclease 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605015	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12161073	ERI1	exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161073	ERI1	exoribonuclease 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1605015	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:0070259	congenital disorder of glycosylation type IIg		ISO	RGD:1312123	D	RGD:7240710	20180130	OMIM			
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:0070259	congenital disorder of glycosylation type IIg		ISO	RGD:1312123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CDGII/COG1 CEREBROCOSTOMANDIBULAR-LIKE SYNDROME | ClinVar Annotator: match by term: COG1-related condition | ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg	PMID:19008299|PMID:23757202|PMID:25741868|PMID:27112773|PMID:28492532|PMID:29127259
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312123	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:10283	prostate cancer		ISO	RGD:1312123	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:10907	microcephaly		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:1115	sarcoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1312123	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:630	genetic disease		ISO	RGD:1312123	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:23757202|PMID:25741868|PMID:27112773|PMID:28492532|PMID:9536098
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1312123	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12161091	COG1	component of oligomeric golgi complex 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312123	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0050562	West syndrome		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0050840	cervical dystonia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:734342	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:22294689|PMID:23020937|PMID:26153216|PMID:27003583
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0060500	drug allergy		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Drug allergy	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0060825	Christianson syndrome		ISO	RGD:734342	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Angelman-like syndrome	PMID:25741868
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0070043	autosomal dominant intellectual developmental disorder 13		ISO	RGD:734342	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 13	PMID:25741868
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:734342	D	RGD:7240710	20190315	OMIM			
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0070073	autosomal dominant intellectual developmental disorder 43		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: HIVEP2-related condition | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 43 | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 43	PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:29758562|PMID:31487502|PMID:34704275|PMID:36588750
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:0112131	severe congenital neutropenia 2		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant	PMID:25741868|PMID:26153216|PMID:27003583|PMID:31207095|PMID:34704275
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:10376	amblyopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Amblyopia	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pigmentary retinopathy	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:36588750|PMID:39825153
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:12527760|PMID:1567844|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:33958710|PMID:34704275|PMID:36588750
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1059	intellectual disability		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:12527760|PMID:1567844|PMID:25741868|PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:10754	otitis media		ISO	RGD:734342	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532|PMID:33958710|PMID:34704275|PMID:36588750
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:10907	microcephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:11830	myopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1205	allergic disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Allergy	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:12128	pica disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pica	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:12849	autistic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1596	depressive disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:178	vascular disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vascular disorder	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1826	epilepsy		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:2030	anxiety disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:255	hemangioma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperbilirubinemia	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:2841	asthma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:2841	asthma	treatment	ISO	RGD:734342	D	RGD:9068941	20251009	RGD		DNA:SNP: :s2328386	PMID:32119686|REF_RGD_ID:628374358
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:5419	schizophrenia		ISO	RGD:62280	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:630	genetic disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12527760|PMID:1567844|PMID:22294689|PMID:23020937|PMID:25741868|PMID:26153216|PMID:27003583|PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:8488	polyhydramnios		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9000495	Tremor		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intention tremor	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9000831	Hypokinesia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradykinesia	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12527760|PMID:1567844|PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9001581	Constipation		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9002182	Cafe au lait Spots, Multiple		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple cafe-au-lait spots	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9002916	Hyperphagia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9002969	Nevus		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nevus	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9003126	Hallucinations		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual hallucination	PMID:12527760|PMID:1567844
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:734342	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Muscular hypotonia | ClinVar Annotator: match by term: Neonatal hypotonia	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9006637	Schizencephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Schizencephaly	PMID:25741868
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:734342	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9007402	Gliosis		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gliosis	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9007661	Dwarfism		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12527760|PMID:1567844|PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9008385	Vomiting		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vomiting	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9009021	Plagiocephaly		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:28492532
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:930	orbital disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:936	brain disease		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	
12161109	HIVEP2	HIVEP zinc finger 2	gene	DOID:9834	hyperopia		ISO	RGD:734342	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0090070	hypogonadotropic hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:7240710	20180130	OMIM			
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:0090076	hypogonadotropic hypogonadism 18 with or without anosmia		ISO	RGD:1353408	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA | ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 18 with or without anosmia | ClinVar Annotator: match by term: IL17RD-related condition	PMID:25741868|PMID:28492532|PMID:36259570
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:10534	stomach cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:1115	sarcoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:1921	Klinefelter syndrome		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism	PMID:25741868|PMID:28492532
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:1924	hypogonadism		ISO	RGD:1353408	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Hypogonadism	PMID:25741868
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:3070	high grade glioma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:4362	cervical cancer		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:5041	esophageal cancer		ISO	RGD:1353408	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:9000998	Brain Injuries		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23159883
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:9001239	Delayed Puberty		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed puberty	PMID:25636053
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1353408	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16474841
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161123	IL17RD	interleukin 17 receptor D	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353408	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161141	RAB20	RAB20, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315116	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161141	RAB20	RAB20, member RAS oncogene family	gene	DOID:0080600	COVID-19		ISO	RGD:1315116	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12161147	KNTC1	kinetochore associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:10283	prostate cancer		ISO	RGD:1317369	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	
12161147	KNTC1	kinetochore associated 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161147	KNTC1	kinetochore associated 1	gene	DOID:10907	microcephaly		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12161147	KNTC1	kinetochore associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161147	KNTC1	kinetochore associated 1	gene	DOID:1115	sarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161147	KNTC1	kinetochore associated 1	gene	DOID:1909	melanoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:3070	high grade glioma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12161147	KNTC1	kinetochore associated 1	gene	DOID:3275	thymoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161147	KNTC1	kinetochore associated 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12161147	KNTC1	kinetochore associated 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317369	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161147	KNTC1	kinetochore associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161147	KNTC1	kinetochore associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161147	KNTC1	kinetochore associated 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161147	KNTC1	kinetochore associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161147	KNTC1	kinetochore associated 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1317369	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733238	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:3070	high grade glioma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:3275	thymoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:4362	cervical cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:733238	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733238	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12161223	LIMK2	LIM domain kinase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161223	LIMK2	LIM domain kinase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:733238	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161246	CDC45	cell division cycle 45	gene	DOID:0060306	Meier-Gorlin syndrome		ISO	RGD:1352573	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12161246	CDC45	cell division cycle 45	gene	DOID:0061011	craniosynostosis 3		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Coronal craniosynostosis	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:0080518	Meier-Gorlin syndrome 7		ISO	RGD:1352573	D	RGD:7240710	20190424	OMIM			
12161246	CDC45	cell division cycle 45	gene	DOID:0080518	Meier-Gorlin syndrome 7		ISO	RGD:1352573	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 7 | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7	PMID:25741868|PMID:27374770|PMID:28492532|PMID:29036220|PMID:30986546|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:0080600	COVID-19		ISO	RGD:1352573	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12161246	CDC45	cell division cycle 45	gene	DOID:0111996	immunodeficiency 51		ISO	RGD:1352573	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 51	PMID:24552284|PMID:24552285|PMID:26607704|PMID:27930337|PMID:28492532
12161246	CDC45	cell division cycle 45	gene	DOID:10348	blepharophimosis		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:10534	stomach cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161246	CDC45	cell division cycle 45	gene	DOID:10907	microcephaly		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161246	CDC45	cell division cycle 45	gene	DOID:1324	lung cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161246	CDC45	cell division cycle 45	gene	DOID:13316	exocrine pancreatic insufficiency		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exocrine pancreatic insufficiency	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:1909	melanoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161246	CDC45	cell division cycle 45	gene	DOID:3275	thymoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161246	CDC45	cell division cycle 45	gene	DOID:4362	cervical cancer		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161246	CDC45	cell division cycle 45	gene	DOID:4674	androgen insensitivity syndrome		ISO	RGD:1352573	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: DHTR DEFICIENCY	PMID:28492532
12161246	CDC45	cell division cycle 45	gene	DOID:5041	esophageal cancer		ISO	RGD:1352573	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161246	CDC45	cell division cycle 45	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161246	CDC45	cell division cycle 45	gene	DOID:630	genetic disease		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161246	CDC45	cell division cycle 45	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:9003555	Androgen Insensitivity Syndrome due to Coactivator Deficiency		ISO	RGD:1352573	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Androgen insensitivity syndrome due to coactivator deficiency	PMID:28492532
12161246	CDC45	cell division cycle 45	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161246	CDC45	cell division cycle 45	gene	DOID:9007661	Dwarfism		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532|PMID:34000999|PMID:38467731
12161246	CDC45	cell division cycle 45	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161246	CDC45	cell division cycle 45	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352573	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161270	FZD8	frizzled class receptor 8	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:0081111	osteosclerotic metaphyseal dysplasia		ISO	RGD:1317516	D	RGD:7240710	20211222	OMIM			
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:0081111	osteosclerotic metaphyseal dysplasia		ISO	RGD:1317516	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRRK1-related condition | ClinVar Annotator: match by term: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA | ClinVar Annotator: match by term: Osteosclerotic metaphyseal dysplasia	PMID:25741868|PMID:28492532
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:1115	sarcoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:13533	osteopetrosis		ISO	RGD:1317517	D	RGD:9068941	20220825	MouseDO			
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:16199547|PMID:23526378|PMID:28492532|PMID:31571209|PMID:32119750
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:630	genetic disease		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1317516	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161276	LRRK1	leucine rich repeat kinase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1317516	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161331	TLCD5	TLC domain containing 5	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1603164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28553957
12161331	TLCD5	TLC domain containing 5	gene	DOID:1909	melanoma		ISO	RGD:1603164	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161345	CDC27	cell division cycle 27	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161345	CDC27	cell division cycle 27	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12161345	CDC27	cell division cycle 27	gene	DOID:10485	esophageal atresia		ISO	RGD:1312639	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12161345	CDC27	cell division cycle 27	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161345	CDC27	cell division cycle 27	gene	DOID:1115	sarcoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161345	CDC27	cell division cycle 27	gene	DOID:1324	lung cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161345	CDC27	cell division cycle 27	gene	DOID:1909	melanoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161345	CDC27	cell division cycle 27	gene	DOID:3070	high grade glioma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12161345	CDC27	cell division cycle 27	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12161345	CDC27	cell division cycle 27	gene	DOID:4362	cervical cancer		ISO	RGD:1312639	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161345	CDC27	cell division cycle 27	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161345	CDC27	cell division cycle 27	gene	DOID:5041	esophageal cancer		ISO	RGD:1312639	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161345	CDC27	cell division cycle 27	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161345	CDC27	cell division cycle 27	gene	DOID:6039	uveal melanoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12161345	CDC27	cell division cycle 27	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161345	CDC27	cell division cycle 27	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312639	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161345	CDC27	cell division cycle 27	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1312639	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12161345	CDC27	cell division cycle 27	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161345	CDC27	cell division cycle 27	gene	DOID:9007098	Pulmonary Atresia		ISO	RGD:1312639	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pulmonary artery atresia	
12161345	CDC27	cell division cycle 27	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161345	CDC27	cell division cycle 27	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161345	CDC27	cell division cycle 27	gene	DOID:9256	colorectal cancer		ISO	RGD:1312639	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:0061216	pheochromocytoma/paraganglioma syndrome 1		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma/paraganglioma syndrome 1	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:0080600	COVID-19		ISO	RGD:1354021	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:1115	sarcoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1354021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1354021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354021	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161385	VSIG4	V-set and immunoglobulin domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354021	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:1115	sarcoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12161416	NEMP2	nuclear envelope integral membrane protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2293905	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:13241	Behcet's disease	no_association	ISO	RGD:1346716	D	RGD:9068941	20210730	RGD			PMID:10375868|REF_RGD_ID:1582700
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:1909	melanoma		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:2773	contact dermatitis		ISO	RGD:1346716	D	RGD:9068941	20210730	CTD		CTD Direct Evidence: marker/mechanism	PMID:18348411
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:4362	cervical cancer		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:4404	occupational dermatitis		ISO	RGD:1346716	D	RGD:9068941	20210730	CTD		CTD Direct Evidence: marker/mechanism	PMID:16737583
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1346716	D	RGD:9068941	20231102	RGD		mRNA:increased expression:nephron tubule (human)	PMID:35592524|REF_RGD_ID:401851916
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161432	DLA-DMB	major histocompatibility complex, class II, DM beta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346716	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161442	CALD1	caldesmon 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161442	CALD1	caldesmon 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161442	CALD1	caldesmon 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161442	CALD1	caldesmon 1	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:730856	D	RGD:9068941	20231102	RGD		mRNA:increased expression:retina (human)	PMID:35692390|REF_RGD_ID:401851065
12161442	CALD1	caldesmon 1	gene	DOID:3275	thymoma		ISO	RGD:730856	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161442	CALD1	caldesmon 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161442	CALD1	caldesmon 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161442	CALD1	caldesmon 1	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:730856	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12161442	CALD1	caldesmon 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730856	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292528
12161442	CALD1	caldesmon 1	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:8921357	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:mucosa of middle ear	PMID:26711468|REF_RGD_ID:11553828
12161442	CALD1	caldesmon 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2256	D	RGD:9068941	20200609	RGD			PMID:10644879|REF_RGD_ID:2314036
12161442	CALD1	caldesmon 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:1115	sarcoma		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1322918	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892016
12161479	RASSF3	Ras association domain family member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161479	RASSF3	Ras association domain family member 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322918	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1606792	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161489	FBLIM1	filamin binding LIM protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606792	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161514	BBC3	BCL2 binding component 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161514	BBC3	BCL2 binding component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161514	BBC3	BCL2 binding component 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161514	BBC3	BCL2 binding component 3	gene	DOID:1909	melanoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161514	BBC3	BCL2 binding component 3	gene	DOID:224	transient cerebral ischemia		ISO	RGD:631434	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus CA1, pyramidal cell	PMID:12913114|REF_RGD_ID:634629
12161514	BBC3	BCL2 binding component 3	gene	DOID:2316	brain ischemia		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19095966
12161514	BBC3	BCL2 binding component 3	gene	DOID:3669	intermittent claudication		ISO	RGD:631434	D	RGD:9068941	20200609	RGD			PMID:23658678|REF_RGD_ID:9586024
12161514	BBC3	BCL2 binding component 3	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:735389	D	RGD:9068941	20210903	RGD		human cells in mouse model	PMID:23632475|REF_RGD_ID:150404268
12161514	BBC3	BCL2 binding component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735389	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161514	BBC3	BCL2 binding component 3	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18573879
12161514	BBC3	BCL2 binding component 3	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16481741
12161514	BBC3	BCL2 binding component 3	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735389	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28100771
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:1115	sarcoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:1324	lung cancer		ISO	RGD:1601916	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:3275	thymoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161534	C4H5orf34	chromosome 4 C5orf34 homolog	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161570	LYPD4	LY6/PLAUR domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1602183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161570	LYPD4	LY6/PLAUR domain containing 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161594	SLC35G1	solute carrier family 35 member G1	gene	DOID:10283	prostate cancer		ISO	RGD:1354059	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12161594	SLC35G1	solute carrier family 35 member G1	gene	DOID:10283	prostate cancer		ISO	RGD:1354059	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12161594	SLC35G1	solute carrier family 35 member G1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1354059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161594	SLC35G1	solute carrier family 35 member G1	gene	DOID:3275	thymoma		ISO	RGD:1354059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161594	SLC35G1	solute carrier family 35 member G1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161603	DLX2	distal-less homeobox 2	gene	DOID:12849	autistic disorder		ISO	RGD:1312529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18728693
12161603	DLX2	distal-less homeobox 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161603	DLX2	distal-less homeobox 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312529	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161603	DLX2	distal-less homeobox 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1312529	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9187081
12161610	MIR367	microRNA mir-367	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343543	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12161648	LOC102155800	60S ribosomal protein L36a-like	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1315369	D	RGD:9068941	20230330	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12161648	LOC102155800	60S ribosomal protein L36a-like	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1315369	D	RGD:9068941	20230330	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0050127	sinusitis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:19786211|REF_RGD_ID:5130914
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353278	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0080600	COVID-19		ISO	RGD:1353278	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0080600	COVID-19		ISO	RGD:1353278	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0080600	COVID-19		ISO	RGD:1353278	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1353278	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|PMID:32360286|REF_RGD_ID:30309209|REF_RGD_ID:30309212
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:0080855	Parkinsonism		ISO	RGD:1550761	D	RGD:9068941	20200609	RGD			PMID:17258864|REF_RGD_ID:5683893
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:10140	dry eye syndrome		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:20575639|REF_RGD_ID:5130907
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:10533	viral pneumonia		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:20957032|REF_RGD_ID:5130904
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:10533	viral pneumonia		ISO	RGD:1353278	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:10690	mastitis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		associated with HIV Infections	PMID:16250882|REF_RGD_ID:5683897
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:1205	allergic disease		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15585374|PMID:21625544
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:12120	pulmonary alveolar proteinosis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:19046553|REF_RGD_ID:4143497
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1550761	D	RGD:9068941	20200609	RGD			PMID:16988274|REF_RGD_ID:4892091
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:14067	Plasmodium falciparum malaria		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood,	PMID:15972509|REF_RGD_ID:5683898
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:1485	cystic fibrosis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:19386685|PMID:20575639|REF_RGD_ID:5130902|REF_RGD_ID:5130907
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:1824	status epilepticus		ISO	RGD:620441	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:brain	PMID:21731074|REF_RGD_ID:5683875
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:1936	atherosclerosis		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24370436
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:2043	hepatitis B		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:21914058|REF_RGD_ID:5683873
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:2316	brain ischemia		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15829914
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:2841	asthma		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:18774390|REF_RGD_ID:5130915
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:2921	glomerulonephritis		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:11475557|PMID:17868461|REF_RGD_ID:5130900|REF_RGD_ID:5130901
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:37	skin disease		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17720292
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:399	tuberculosis	severity	ISO	RGD:1353278	D	RGD:9068941	20210129	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)	PMID:31276515|REF_RGD_ID:41404639
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:399	tuberculosis	severity	ISO	RGD:1550761	D	RGD:9068941	20210129	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)	PMID:31276515|REF_RGD_ID:41404639
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:399	tuberculosis	severity	ISO	RGD:620441	D	RGD:9068941	20210129	RGD		associated with human immunodeficiency virus infectious disease;protein:increased expression:blood plasma (human)	PMID:31276515|REF_RGD_ID:41404639
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:417	autoimmune disease		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21169727|REF_RGD_ID:5683913
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:418	systemic scleroderma		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21285114|REF_RGD_ID:5683876
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353278	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:4483	rhinitis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:19786211|REF_RGD_ID:5130914
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:620441	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:17898087|REF_RGD_ID:2307059
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1353278	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:526	human immunodeficiency virus infectious disease	susceptibility	ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:16250882|REF_RGD_ID:5683897
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:552	pneumonia		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:552	pneumonia		ISO	RGD:1353278	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:635	acquired immunodeficiency syndrome		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		DNA:SNP:3' utr:rs1719153 (human)	PMID:16773571|REF_RGD_ID:5683896
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:813	septic arthritis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:17393419|REF_RGD_ID:5683892
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:874	bacterial pneumonia		ISO	RGD:1550761	D	RGD:9068941	20200609	RGD			PMID:20483921|REF_RGD_ID:5130905
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9000310	Lung Injury		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19762220
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9000386	Polyomavirus Infections		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9001542	Albuminuria		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;protein:increased expression:urine	PMID:21113841|REF_RGD_ID:5683918
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9002287	Respiratory Tract Granuloma		ISO	RGD:1550761	D	RGD:9068941	20200609	RGD			PMID:21273392|REF_RGD_ID:5683877
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9002953	Escherichia Coli Infections		ISO	RGD:620441	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:16238536|REF_RGD_ID:5683919
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9004484	Sepsis	severity	ISO	RGD:1353278	D	RGD:9068941	20200609	RGD			PMID:21208283|REF_RGD_ID:5683911
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:serum, liver	PMID:12579535|REF_RGD_ID:14995451
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:1550761	D	RGD:9068941	20200609	RGD		protein:increased expression:respiratory system fluid/secretion	PMID:21906407|REF_RGD_ID:5683874
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:620441	D	RGD:9068941	20200609	RGD			PMID:10679105|REF_RGD_ID:68880
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:620441	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung	PMID:21767135|REF_RGD_ID:6480432
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9005372	Inflammation		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19762220
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1353278	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:31557154
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1353278	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9008	psoriatic arthritis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16936328|REF_RGD_ID:5683894
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9074	systemic lupus erythematosus	disease_progression	ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16924394|REF_RGD_ID:5683895
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9146	visceral leishmaniasis		ISO	RGD:1353278	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21991751|REF_RGD_ID:5683905
12161695	CCL4	chemokine (C-C motif) ligand 4	gene	DOID:9970	obesity		ISO	RGD:620441	D	RGD:9068941	20200609	RGD			PMID:21862610|REF_RGD_ID:5683906
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:0110383	retinitis pigmentosa 7		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 7	PMID:25741868
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:1115	sarcoma		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:1324	lung cancer		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:2211	factor XIII deficiency		ISO	RGD:732234	D	RGD:9068941	20200609	RGD		F5F8D, OMIM:227300	PMID:9546392|REF_RGD_ID:1600100
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:2216	factor V deficiency		ISO	RGD:732234	D	RGD:9068941	20260521	RGD		F5F8D, OMIM:227300	PMID:9546392|REF_RGD_ID:1600100
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:2513	basal cell carcinoma		ISO	RGD:732234	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:4362	cervical cancer		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732234	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:630	genetic disease		ISO	RGD:732234	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:9000717	Familial Multiple Coagulation Factor Deficiency I		ISO	RGD:732234	D	RGD:7240710	20180130	OMIM			
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:9000717	Familial Multiple Coagulation Factor Deficiency I		ISO	RGD:732234	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FMFD I | ClinVar Annotator: match by term: LMAN1-related disorder	PMID:25741868|PMID:28492532
12161700	LMAN1	lectin, mannose binding 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732234	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:0080690	RASopathy		ISO	RGD:733433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:25741868|PMID:28492532
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:0112169	Noonan syndrome 11		ISO	RGD:733433	D	RGD:7240710	20190731	OMIM			
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:0112169	Noonan syndrome 11		ISO	RGD:733433	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MRAS-related condition | ClinVar Annotator: match by term: NOONAN SYNDROME 11 | ClinVar Annotator: match by term: Noonan syndrome 11	PMID:25741868|PMID:28289718|PMID:28492532|PMID:31108500|PMID:31173466|PMID:31638832|PMID:36734411|PMID:9400994
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:733433	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:29493581
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733433	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28492532
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:3393	coronary artery disease		ISO	RGD:733433	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378990|PMID:35590109
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:3407	carotid artery disease		ISO	RGD:733433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198612
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:4362	cervical cancer		ISO	RGD:733433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:630	genetic disease		ISO	RGD:733433	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28289718|PMID:28492532
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:9000528	Coronary Disease		ISO	RGD:733433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733433	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161722	MRAS	muscle RAS oncogene homolog	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:733433	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28869590
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:0060058	lymphoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:10534	stomach cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1348971	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.1883+365T>C (rs1351965) (human)	PMID:22984654|REF_RGD_ID:11528589
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:1115	sarcoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:1324	lung cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1348971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348971	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9008885	Staphylococcal Infections	susceptibility	ISO	RGD:1348971	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.2339+1477G>A (rs7643377) (human)	PMID:24847357|REF_RGD_ID:11530009
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161732	XRN1	5'-3' exoribonuclease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1348971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:1324	lung cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:4362	cervical cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:9002644	Premature Aging		ISO	RGD:1315391	D	RGD:9068941	20200609	RGD			PMID:16476774|REF_RGD_ID:10059413
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161796	BUB3	BUB3 mitotic checkpoint protein	gene	DOID:9256	colorectal cancer		ISO	RGD:1315390	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:1324	lung cancer		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:1909	melanoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:3275	thymoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161810	PIAS2	protein inhibitor of activated STAT 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1603704	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12161856	PRAF2	PRA1 domain family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161856	PRAF2	PRA1 domain family member 2	gene	DOID:0070338	cerebellar hypoplasia		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital cerebellar hypoplasia	
12161856	PRAF2	PRA1 domain family member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1350856	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12161856	PRAF2	PRA1 domain family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350856	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161863	LOC482938	zinc finger protein 705A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:2311724	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0080833	laryngomalacia		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0111394	mucopolysaccharidosis type IIIB		ISO	RGD:731864	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type IIIB (Sanfilippo B)	PMID:25666757|PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0112051	non-syndromic X-linked intellectual disability 30		ISO	RGD:731864	D	RGD:7240710	20180130	OMIM			
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:0112051	non-syndromic X-linked intellectual disability 30		ISO	RGD:731864	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 30 | ClinVar Annotator: match by term: PAK3-related condition	PMID:25649377|PMID:25666757|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29246092|PMID:30542205|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:10348	blepharophimosis		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blepharophimosis	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Moderate intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18523455|PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:1059	intellectual disability		ISO	RGD:731864	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:10754	otitis media		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Otitis media	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:10907	microcephaly		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:12638	hypertrophic pyloric stenosis		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital hypertrophic pyloric stenosis	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:12849	autistic disorder		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:13832	patent ductus arteriosus		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Patent ductus arteriosus	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:1827	generalized epilepsy		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:630	genetic disease		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24556213|PMID:25741868|PMID:28492532|PMID:39084224
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:8466	retinal degeneration		ISO	RGD:736155	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retina	PMID:16505058|REF_RGD_ID:7775028
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9002189	High Myopia		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9003133	Hypertelorism		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9005466	Language Development Disorders		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9006880	Urinary Incontinence		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Urinary incontinence	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9007661	Dwarfism		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9009021	Plagiocephaly		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Plagiocephaly	PMID:25741868|PMID:31843706|PMID:32050918
12161881	PAK3	p21 (RAC1) activated kinase 3	gene	DOID:9840	esotropia		ISO	RGD:731864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:25741868|PMID:31843706|PMID:32050918
12161936	ENDOV	endonuclease V	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:0060058	lymphoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12161936	ENDOV	endonuclease V	gene	DOID:1115	sarcoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161936	ENDOV	endonuclease V	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:3070	high grade glioma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12161936	ENDOV	endonuclease V	gene	DOID:3275	thymoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12161936	ENDOV	endonuclease V	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161936	ENDOV	endonuclease V	gene	DOID:6039	uveal melanoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12161936	ENDOV	endonuclease V	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12161936	ENDOV	endonuclease V	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161936	ENDOV	endonuclease V	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161936	ENDOV	endonuclease V	gene	DOID:9256	colorectal cancer		ISO	RGD:1602281	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:12336	male infertility		ISO	RGD:1350653	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:1909	melanoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161950	NXT2	nuclear transport factor 2 like export factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161971	MIR19A	microRNA mir-19a	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1347994	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25070658
12161971	MIR19A	microRNA mir-19a	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:1608165	D	RGD:9068941	20230311	RGD		RNA:decreased expression:brain (mouse)	PMID:32335212|REF_RGD_ID:156451661
12161971	MIR19A	microRNA mir-19a	gene	DOID:4926	bronchiolo-alveolar adenocarcinoma		ISO	RGD:1347994	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25926378
12161971	MIR19A	microRNA mir-19a	gene	DOID:6000	congestive heart failure		ISO	RGD:1347994	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12161971	MIR19A	microRNA mir-19a	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1347994	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12161971	MIR19A	microRNA mir-19a	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:1347994	D	RGD:9068941	20200609	RGD			PMID:29813046|REF_RGD_ID:21081545
12161971	MIR19A	microRNA mir-19a	gene	DOID:9006771	Chronic Rhinosinusitis		ISO	RGD:1347994	D	RGD:9068941	20251106	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:33115854|REF_RGD_ID:629006538
12161971	MIR19A	microRNA mir-19a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1347994	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12161971	MIR19A	microRNA mir-19a	gene	DOID:9256	colorectal cancer		ISO	RGD:1347994	D	RGD:9068941	20220722	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12161971	MIR19A	microRNA mir-19a	gene	DOID:9538	multiple myeloma		ISO	RGD:1347994	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29687521
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Familial isolated arrhythmogenic right ventricular dysplasia	PMID:10973849|PMID:11222472|PMID:12354768|PMID:12820704|PMID:14523039|PMID:15466642|PMID:15840476|PMID:15840483|PMID:15851227|PMID:16325048|PMID:16414944|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18361072|PMID:18452873|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22373669|PMID:22378279|PMID:22557970|PMID:23008441|PMID:23098067|PMID:23503384|PMID:23861362|PMID:24033266|PMID:24653702|PMID:25163546|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26281194|PMID:26467025|PMID:26749013|PMID:27041150|PMID:27287068|PMID:28069705|PMID:28265756|PMID:28341781|PMID:28492532|PMID:28781330|PMID:29032884|PMID:29497013|PMID:29574140|PMID:29798782|PMID:30084490|PMID:31776209|PMID:32323320|PMID:32600061|PMID:33221895|PMID:33535892|PMID:34219138|PMID:34755423|PMID:35932045|PMID:36303204|PMID:36721086|PMID:37547970|PMID:37937776
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome	PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29402340|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30385166|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30758498|PMID:30828344|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31477192|PMID:31568572|PMID:31680123|PMID:31694554|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32161207|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33535892|PMID:33712541|PMID:34008892|PMID:35535697|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome	PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33789662|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34048814|PMID:34092119|PMID:34122134|PMID:34127479
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS) | ClinVar Annotator: match by term: Sudden unexplained nocturnal death syndrome	PMID:34135346|PMID:34219138|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35284542|PMID:35535697|PMID:35663620|PMID:36129056|PMID:36197721|PMID:36220970|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32815768|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:33712541|PMID:33764691|PMID:33789662|PMID:33906374|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34048814|PMID:34076677|PMID:34092119|PMID:34122134|PMID:34127479|PMID:34135346|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34755423|PMID:34758253|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35231055|PMID:35284542|PMID:35535697|PMID:35663620|PMID:35932045|PMID:36091819|PMID:36129056|PMID:36147716|PMID:36197721|PMID:36220970|PMID:36303204|PMID:37061847|PMID:3953067|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:10200053|PMID:10377081|PMID:10448858|PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11417215|PMID:11420310|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12598077|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12693506|PMID:12695286|PMID:12741714|PMID:12820704|PMID:12845244|PMID:12877697|PMID:12898257|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14625171|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15057319|PMID:15120823|PMID:15121794|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15266024|PMID:15277732|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15485686|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16038262|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16254012|PMID:16266370|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16426410|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16616735|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16798729|PMID:16864729|PMID:16922724|PMID:16945804|PMID:16980337|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17445919|PMID:17504259|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18065446|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18599870|PMID:18616619|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18929244|PMID:18929331|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19336922|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808398|PMID:19808440|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19957170|PMID:19996378|PMID:20022821|PMID:20025708|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20123697|PMID:2012928
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:20129283|PMID:20137763|PMID:2030070|PMID:20339501|PMID:20345624|PMID:20381179|PMID:20384651|PMID:20386770|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20646679|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21273195|PMID:21288276|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21410720|PMID:21483645|PMID:21498565|PMID:21552533|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21895525|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22216297|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22370247|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22717692|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23237912|PMID:23276942|PMID:23283979|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23538271|PMID:235469|PMID:235504|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24363796|PMID:24365614|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24581105|PMID:24582607|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25294783|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26036855|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26150789|PMID:26154754|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26220970|PMID:26281194|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26304620|PMID:26332594|PMID:26383716|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26888838|PMID:26916278|PMID:26921764|PMID:26941339|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27529593|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930354|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28146213|PMID:28150151|PMID:28152038|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28262340|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28701297|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29095814|PMID:29121719|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29572929|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29652902|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30228971|PMID:30232268|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30420678|PMID:30453078|PMID:30476647|PMID:30497561|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30775854|PMID:30828344|PMID:30828412|PMID:30847665|PMID:30847666|PMID:30860130|PMID:30891416|PMID:30935997|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31069529|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31371804|PMID:31397097|PMID:3142281|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31521807|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31564432|PMID:31568572|PMID:31590245|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31680123|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32013205|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32815768|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931730|PMID:32931854|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33463855|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33789662|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34008892|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34048814|PMID:34076677|PMID:34092119|PMID:34108154|PMID:34122134|PMID:34127479|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34348284|PMID:34379075|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34628415|PMID:34645491|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34814702|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35231055|PMID:35284224|PMID:35284542|PMID:35305865|PMID:35331424|PMID:35352813|PMID:35397174|PMID:35535697|PMID:35538921|PMID:35617207|PMID:35663620|PMID:35701104|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:36220970|PMID:36252119|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36588553|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37746560|PMID:37904629|PMID:3953067|PMID:461398|PMID:539905|PMID:545017|PMID:617273|PMID:748006|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:23503384|PMID:23538271|PMID:235469|PMID:235504|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24223155|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363796|PMID:24365614|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24582607|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24762593|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24895455|PMID:24915601|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24972929|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210054|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25637381|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25856671|PMID:25904541|PMID:25923670|PMID:26031372|PMID:26036855|PMID:26111534|PMID:26125038|PMID:26131924|PMID:26136871|PMID:26154754|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26220391|PMID:26220970|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26724572|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26921764|PMID:26941339|PMID:27066507|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27529593|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27784737|PMID:27816319|PMID:27831900|PMID:27871843|PMID:27930354|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28127136|PMID:28150151|PMID:28152038|PMID:28183570|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28798025|PMID:28807990|PMID:28834665|PMID:28878402|PMID:29016939|PMID:29062695|PMID:29095814|PMID:291807|PMID:29247119|PMID:29306897|PMID:29325976|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540472|PMID:29544605|PMID:29557500|PMID:29574140|PMID:29579189|PMID:29652902|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29892087|PMID:29915097|PMID:29970176|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30476647|PMID:30497561|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30758498|PMID:30828344|PMID:30828412|PMID:30847665|PMID:30847666|PMID:30891416|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31191357|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31371804|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31478073|PMID:31514951|PMID:31521807|PMID:31522937|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31694554|PMID:31696929|PMID:31737537|PMID:31776209|PMID:31866066|PMID:31928070|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32161207|PMID:32268277
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Brugada syndrome, lidocaine-induced | ClinVar Annotator: match by term: Sudden Unexplained Death Syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:32371921|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32581083|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33019804|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33390472|PMID:33463855|PMID:33500567|PMID:33641026|PMID:33712541|PMID:33764691|PMID:33789662|PMID:33996946|PMID:34076677|PMID:34092119|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34194985|PMID:34219138|PMID:34348284|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34575961|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34643236|PMID:34649698|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35026164|PMID:35027292|PMID:35052356|PMID:35124229|PMID:35231055|PMID:35284542|PMID:35305865|PMID:35331424|PMID:35352813|PMID:35617207|PMID:35650162|PMID:35701104|PMID:35932045|PMID:35956023|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:36220970|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37288251|PMID:37508981|PMID:37732247|PMID:37746560|PMID:3953067|PMID:461398|PMID:545017|PMID:748006|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8663992|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:10532948|PMID:10618304|PMID:10662748|PMID:10684611|PMID:10690282|PMID:10727653|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11304498|PMID:11417215|PMID:11420310|PMID:11748104|PMID:11786529|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11884381|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12741714|PMID:12845244|PMID:1452303|PMID:14523039|PMID:14625171|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15057319|PMID:15121794|PMID:15176425|PMID:15277732|PMID:15338453|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840483|PMID:15851227|PMID:15851320|PMID:15851440|PMID:15877619|PMID:15890323|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16038262|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16266370|PMID:16267250|PMID:16325048|PMID:16344400|PMID:16426410|PMID:16453024|PMID:16505387|PMID:16568155|PMID:16616735|PMID:16643399|PMID:16707561|PMID:16712702|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17141278|PMID:17198989|PMID:17210839|PMID:17331104|PMID:17445919|PMID:17576681|PMID:17605181|PMID:17697823|PMID:17854786|PMID:17897635|PMID:17905336|PMID:18156160|PMID:18245395|PMID:18252757|PMID:18304999|PMID:18341814|PMID:18361072|PMID:18378609|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18551308|PMID:18596570|PMID:18616619|PMID:18752142|PMID:18976777|PMID:19029124|PMID:19075524|PMID:19167345|PMID:19171938|PMID:19251209|PMID:19336922|PMID:19406494|PMID:19561025|PMID:19564561|PMID:19606473|PMID:19648062|PMID:19706159|PMID:19716085|PMID:19808440|PMID:19841298|PMID:19841300|PMID:19843921|PMID:20031634|PMID:2012928|PMID:20129283|PMID:20301690|PMID:20339501|PMID:20384651|PMID:20395683|PMID:20448214|PMID:20539757|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21126620|PMID:21273195|PMID:21321465|PMID:21840964|PMID:21895525|PMID:22028457|PMID:22090166|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22519808|PMID:22529811|PMID:22581653|PMID:22682427|PMID:22739120|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:23098067|PMID:23104914|PMID:23321620|PMID:23376825|PMID:23414114|PMID:23420830|PMID:23425522|PMID:23465283|PMID:23571586|PMID:23612926|PMID:23631430|PMID:23671135|PMID:23785128|PMID:2380016|PMID:23805106|PMID:23818691|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24077912|PMID:24136861|PMID:24167619|PMID:24363796|PMID:24400668|PMID:24529773|PMID:24573164|PMID:24582607|PMID:24606995|PMID:24631775|PMID:24721456|PMID:24762805|PMID:24768612|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24903439|PMID:25051102|PMID:25163546|PMID:25210054|PMID:25261036|PMID:25348405|PMID:25351510|PMID:25460174|PMID:25467552|PMID:25481746|PMID:25616976|PMID:25650408|PMID:25741868|PMID:25829473|PMID:25904541|PMID:26036855|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26220391|PMID:26283144|PMID:26332594|PMID:26392562|PMID:26467025|PMID:26538325|PMID:26680202|PMID:26743238|PMID:26746457|PMID:26798387|PMID:26921764|PMID:26941339|PMID:27153395|PMID:27287068|PMID:27529593|PMID:27554632|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27784737|PMID:27816319|PMID:27831900|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28104484|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28370132|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:29062695|PMID:29233994|PMID:29247119|PMID:29325976|PMID:29540472|PMID:29557500|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29798782|PMID:29806494|PMID:29884292|PMID:29892087|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050451	Brugada syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Brugada syndrome (shorter-than-normal QT interval) | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30254039|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30868116|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31371804|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31522937|PMID:31534214|PMID:31696929|PMID:31737537|PMID:31776209|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32709127|PMID:32746448|PMID:32880476|PMID:32893267|PMID:32931854|PMID:33019804|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33463855|PMID:33500567|PMID:33641026|PMID:33797273|PMID:33996946|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34194985|PMID:34219138|PMID:34287471|PMID:34348284|PMID:34379075|PMID:34428338|PMID:34461752|PMID:34575961|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34643236|PMID:34649698|PMID:34843967|PMID:34930020|PMID:34983622|PMID:35052356|PMID:35124229|PMID:35231055|PMID:35257103|PMID:35284542|PMID:35305865|PMID:35650162|PMID:35701104|PMID:35753512|PMID:36007526|PMID:36011376|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:3620481|PMID:36204818|PMID:36303204|PMID:36305856|PMID:36516610|PMID:36578016|PMID:36713046|PMID:36721086|PMID:36724992|PMID:36881552|PMID:36973604|PMID:37061847|PMID:37227351|PMID:37461109|PMID:37508981|PMID:37547970|PMID:37652022|PMID:37745129|PMID:37746560|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38504463|PMID:38731905|PMID:39073097|PMID:8663992|PMID:9521325|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050591	tooth agenesis		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Oligodontia	PMID:19694019|PMID:20129283|PMID:20301690|PMID:22789973|PMID:22840528|PMID:25741868|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30364184|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:10508990|PMID:10961955|PMID:10973849|PMID:11076825|PMID:11463728|PMID:11710892|PMID:11823453|PMID:11960580|PMID:12354768|PMID:12639704|PMID:12820704|PMID:12898257|PMID:14760488|PMID:14961552|PMID:14985827|PMID:15047701|PMID:15121794|PMID:15466642|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16379539|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17905336|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18378609|PMID:18436145|PMID:18452873|PMID:18976777|PMID:19026623|PMID:19412328|PMID:19597050|PMID:19666841|PMID:19716085|PMID:19841298|PMID:19841300|PMID:20102864|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21321465|PMID:21410720|PMID:22378279|PMID:22519808|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23098067|PMID:23321620|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24144883|PMID:24190697|PMID:24606995|PMID:24653702|PMID:24762805|PMID:24784157|PMID:25051102|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26304136|PMID:26332594|PMID:26467025|PMID:26746457|PMID:26749013|PMID:27108952|PMID:27153395|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27711072|PMID:28074886|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28341781|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28589536|PMID:28638671|PMID:28781330|PMID:28831623|PMID:28988457|PMID:29032884|PMID:29396561|PMID:29672598|PMID:29798782|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30419068|PMID:30662450|PMID:30775854|PMID:30847666|PMID:31043699|PMID:31696929|PMID:31737537|PMID:31983221|PMID:32048431|PMID:32268277|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33258288|PMID:34461752|PMID:34546463|PMID:34649698|PMID:34843967|PMID:35663620|PMID:35932045|PMID:36129056|PMID:36352534|PMID:36578016|PMID:36973604|PMID:37477868|PMID:37652022|PMID:37937776|PMID:38820625|PMID:39714775|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050820	atrioventricular block		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: AV block	PMID:11804990|PMID:15671429|PMID:18048769|PMID:19056759|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:35352813|PMID:36129056|PMID:37351150|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050824	sinoatrial node disease		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sinoatrial node disease	PMID:20129283|PMID:22090166|PMID:22370247|PMID:22789973|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29798782|PMID:32268277|PMID:32533187|PMID:33164571|PMID:34135346|PMID:34649698|PMID:36713046
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:15840476|PMID:19412328|PMID:19841300|PMID:20129283|PMID:22337857|PMID:23631430|PMID:24033266|PMID:24613995|PMID:25585270|PMID:25741868|PMID:25904541|PMID:26633542|PMID:28150151|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29728395|PMID:30143662|PMID:30193851|PMID:31032819|PMID:31737537|PMID:32091595|PMID:33131149
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation	PMID:15996170|PMID:17576681|PMID:18088563|PMID:18378609|PMID:18929244|PMID:19026623|PMID:19251209|PMID:19808477|PMID:21143119|PMID:21321465|PMID:22685113|PMID:23631430|PMID:24033266|PMID:24055113|PMID:24631775|PMID:24784157|PMID:25410959|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25741910|PMID:25741911|PMID:25904541|PMID:28086167|PMID:28150151|PMID:28202948|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29449639|PMID:29709244|PMID:29798782|PMID:30086531|PMID:30193851|PMID:30203441|PMID:30847666|PMID:31696929|PMID:32048431|PMID:32826072|PMID:32893267|PMID:32917565|PMID:33221895|PMID:33919104|PMID:34019817|PMID:34219138|PMID:34317510|PMID:35124229|PMID:36129056|PMID:36138163|PMID:36197721|PMID:36578016|PMID:37432518|PMID:37652022|PMID:38241367|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0060319	cardiac arrest		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16325048|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20129283|PMID:20403459|PMID:20539757|PMID:20875080|PMID:22090166|PMID:22370247|PMID:22378279|PMID:22789973|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25348405|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884|PMID:29798782|PMID:32268277|PMID:32533187|PMID:33164571|PMID:34135346|PMID:34649698|PMID:36713046|PMID:37937776
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:731255	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stress-induced polymorphic ventricular tachycardia	PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0060674	catecholaminergic polymorphic ventricular tachycardia		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia	PMID:23631430|PMID:25741868|PMID:28600387
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:731255	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia 2 | ClinVar Annotator: match by term: VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC 1	PMID:15840476|PMID:19841300|PMID:20129283|PMID:22581653|PMID:23805106|PMID:24033266|PMID:25351510|PMID:25741868|PMID:25904541|PMID:28492532|PMID:28600387|PMID:32048431
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0061209	branchiootic syndrome 1		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Branchiootic syndrome 1	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19412328|PMID:19841300|PMID:20129283|PMID:20981092|PMID:21726068|PMID:22360817|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22682427|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24573164|PMID:24784157|PMID:24795344|PMID:25051102|PMID:25172307|PMID:25741868|PMID:25748040|PMID:25904541|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27554632|PMID:27566755|PMID:28323875|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31568572|PMID:32048431|PMID:32268277|PMID:32893267|PMID:35284542|PMID:37547970|PMID:39119706
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0080662	atrial standstill 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATRIAL STANDSTILL 1, DIGENIC	PMID:16188595|PMID:19716085|PMID:20384651|PMID:20539757|PMID:25904541|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0080663	atrial standstill 2		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atrial standstill 2	PMID:23424222|PMID:24077912|PMID:25741868|PMID:28492532|PMID:35052356|PMID:36927930
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 1 | ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11410597|PMID:11417215|PMID:11535573|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12106943|PMID:12354768|PMID:12566525|PMID:12566542|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16155735|PMID:16199547|PMID:16266370|PMID:16267250|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16505387|PMID:16540748|PMID:16568155|PMID:16643399|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16798729|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17198989|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17510181|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17697823|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18616619|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19171938|PMID:19251209|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19694019|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21726068|PMID:21840964|PMID:21908450|PMID:22028457|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23085483|PMID:23098067|PMID:23104914|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23683917|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24349418|PMID:24363352|PMID:24400668|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24762805|PMID:24768612|PMID:24775617|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24903439|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25348405|PMID:25363768|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25626866|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26031372|PMID:26036855|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26283144|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26516000|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26921764
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110218	Brugada syndrome 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: BRUGADA SYNDROME 1 | ClinVar Annotator: match by term: Brugada syndrome 1 | ClinVar Annotator: match by term: RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME | ClinVar Annotator: match by term: Right bundle branch block, ST segment elevation, and sudden death syndrome	PMID:27000522|PMID:27026747|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27529593|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28416588|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29233994|PMID:29247119|PMID:29255176|PMID:29306897|PMID:29325976|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29402340|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540472|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29884292|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30232268|PMID:30254039|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30828344|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30868116|PMID:30935997|PMID:31032819|PMID:31043699|PMID:31069529|PMID:31125670|PMID:31191357|PMID:31231243|PMID:31332282|PMID:31371804|PMID:31397097|PMID:31440721|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31477192|PMID:31534214|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31865383|PMID:31928070|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32383558|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32709127|PMID:32746448|PMID:32815768|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33258288|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33764691|PMID:33797273|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33959699|PMID:33996946|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34194985|PMID:34219138|PMID:34287471|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34628405|PMID:34628415|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:34983622|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35216338|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35650162|PMID:35663620|PMID:35701104|PMID:35753512|PMID:35932045|PMID:35947370|PMID:36011376|PMID:36091819|PMID:36129056|PMID:36143288|PMID:36147716|PMID:36197721|PMID:3620481|PMID:36204818|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36713046|PMID:36724992|PMID:36788754|PMID:36881552|PMID:36927930|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37098502|PMID:37227351|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37653714|PMID:37745129|PMID:37746560|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38196587|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:38731905|PMID:39073097|PMID:39119706|PMID:39333091|PMID:39714775|PMID:39977965|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110218	Brugada syndrome 1	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:731255	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 19 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:10690282|PMID:10727653|PMID:11823453|PMID:12639704|PMID:14961552|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19251209|PMID:19412328|PMID:19841300|PMID:20110800|PMID:20129283|PMID:20486126|PMID:20981092|PMID:21726068|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22840528|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23465283|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24227891|PMID:24529773|PMID:24573164|PMID:24784157|PMID:24795344|PMID:24915601|PMID:25051102|PMID:25172307|PMID:25650408|PMID:25741868|PMID:25748040|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:27281089|PMID:27554632|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28518168|PMID:28638671|PMID:28798025|PMID:29121719|PMID:29420653|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30419068|PMID:31333075|PMID:31564432|PMID:31568572|PMID:32048431|PMID:32268277|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34461752|PMID:34546463|PMID:34645491|PMID:34649698|PMID:35124229|PMID:35284542|PMID:36007526|PMID:36516610|PMID:37061847|PMID:8661019
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:11823453|PMID:12639704|PMID:15121794|PMID:15689442|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16568155|PMID:16707561|PMID:17210839|PMID:17605181|PMID:17905336|PMID:18245395|PMID:18378609|PMID:18976777|PMID:19841300|PMID:20129283|PMID:20981092|PMID:22378279|PMID:22519808|PMID:22682427|PMID:23465283|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24784157|PMID:25051102|PMID:25741868|PMID:26131924|PMID:26159999|PMID:26467025|PMID:27153395|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28638671|PMID:29672598|PMID:29997009|PMID:30079003|PMID:30146492|PMID:30419068
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110425	dilated cardiomyopathy 1A		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1A	PMID:25741868|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110433	dilated cardiomyopathy 1E		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20395683|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22090166|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29325976|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540472
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110433	dilated cardiomyopathy 1E		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DEFECT 2 | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH CONDUCTION DISORDER AND ARRHYTHMIA | ClinVar Annotator: match by term: Dilated cardiomyopathy 1E	PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30868116|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:33996946|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35216338|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35650162|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36011376|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36724992|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37227351|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:38731905|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110433	dilated cardiomyopathy 1E	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL DILATED, 1 | ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:11901046|PMID:12106943|PMID:14523039|PMID:15671429|PMID:15851227|PMID:15890323|PMID:16643399|PMID:16712702|PMID:17368591|PMID:19251209|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:21596231|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22789973|PMID:22885917|PMID:22899775|PMID:23321620|PMID:23414114|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24613995|PMID:24762805|PMID:24784157|PMID:25171853|PMID:25351510|PMID:25525159|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:26467025|PMID:26636822|PMID:26743238|PMID:26746457|PMID:26884609|PMID:27000522|PMID:27066507|PMID:27332903|PMID:28482396|PMID:28492532|PMID:30662450|PMID:31043699|PMID:31337358|PMID:31737537|PMID:32048431|PMID:32880476|PMID:34076677|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypokinetic dilated cardiomyopathy, familial	PMID:16712702|PMID:19167345|PMID:19841300|PMID:19862833|PMID:20102864|PMID:22675453|PMID:24033266|PMID:24055113|PMID:24762805|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26304136|PMID:26746457|PMID:26798387|PMID:27000522|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30193851|PMID:30218094|PMID:30662450|PMID:32880476|PMID:32893267|PMID:33906374|PMID:38820625
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:731255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Long QT syndrome 1, recessive | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27930701|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29766883|PMID:29798782|PMID:29806494|PMID:29874177|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30143662|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30755392|PMID:30828412|PMID:30847666|PMID:30955239|PMID:30972196|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31130284|PMID:31257342|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31928344|PMID:31935801|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32848785|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33338828|PMID:33390472|PMID:33552729|PMID:33712541|PMID:33874732|PMID:34076677|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34620408|PMID:34628415|PMID:34649698|PMID:34843967|PMID:34856468|PMID:34935411|PMID:34957250|PMID:35052356|PMID:35113648|PMID:35257103|PMID:35284542|PMID:35305865|PMID:35394010|PMID:35535697|PMID:35701104|PMID:35956023|PMID:36007526|PMID:36129056|PMID:36178741|PMID:36303204|PMID:36516610|PMID:36788754|PMID:36964972|PMID:37061847|PMID:37089884|PMID:37298497|PMID:37449562|PMID:37477868|PMID:37652022|PMID:37732247|PMID:37894777|PMID:37904629|PMID:38489124|PMID:38534782|PMID:39481677|PMID:539905|PMID:617273|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110644	long QT syndrome 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 1 | ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:11410597|PMID:11710892|PMID:11748104|PMID:11823453|PMID:12574983|PMID:1452303|PMID:14523039|PMID:14736542|PMID:14990510|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:15840476|PMID:16199547|PMID:16254012|PMID:16922724|PMID:16980337|PMID:17118339|PMID:17697823|PMID:17905336|PMID:18378609|PMID:18929331|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19412328|PMID:19716085|PMID:19762097|PMID:19841300|PMID:19863579|PMID:20031634|PMID:20090423|PMID:20129283|PMID:20458009|PMID:20539757|PMID:21167004|PMID:21273195|PMID:21483645|PMID:21596231|PMID:22129298|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22710484|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22999724|PMID:23631430|PMID:23805106|PMID:24033266|PMID:24218437|PMID:24613995|PMID:24631775|PMID:24815523|PMID:25210054|PMID:25348405|PMID:25585270|PMID:25624448|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26164358|PMID:26283144|PMID:26633542|PMID:26798387|PMID:26921764|PMID:27287068|PMID:27566755|PMID:28150151|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28491738|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29247119|PMID:29325976|PMID:29544605|PMID:29728395|PMID:29798782|PMID:29806494|PMID:29871609|PMID:30059973|PMID:30116708|PMID:30143662|PMID:30193851|PMID:30203441|PMID:30662450|PMID:31032819|PMID:31125670|PMID:31130284|PMID:31371804|PMID:31447099|PMID:31737537|PMID:32091595|PMID:32153684|PMID:32449611|PMID:32848785|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33874732|PMID:33959699|PMID:34076677|PMID:34147702|PMID:34930020|PMID:36007526|PMID:36129056|PMID:36516610|PMID:37745129|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110645	long QT syndrome 2		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 2	PMID:18378609|PMID:21321465|PMID:22685113|PMID:25741868|PMID:28202948|PMID:28492532|PMID:30203441|PMID:32048431|PMID:36129056
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110646	long QT syndrome 3		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 3	PMID:10200053|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10772658|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11410597|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12209021|PMID:12354768|PMID:12566525|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15051636|PMID:15121794|PMID:15184283|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15621041|PMID:15670972|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15877619|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16254012|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:16980337|PMID:17081365|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17697823|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18929331|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19694019|PMID:19716085|PMID:19762097|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:19863579|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20395683|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21350584|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24077912|PMID:24112685|PMID:24136861|PMID:24144883|PMID:24167619|PMID:24190697|PMID:24218437|PMID:24349418|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25163546|PMID:25210054|PMID:25254341|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25460174|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28292826|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110646	long QT syndrome 3		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 3	PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28573431|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29233994|PMID:29247119|PMID:29306897|PMID:29325976|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29654130|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29766883|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30868116|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31776209|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32848785|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33500567|PMID:33552729|PMID:33797273|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34008892|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35216338|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35650162|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36007526|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36721086|PMID:36788754|PMID:36881552|PMID:36927930|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37227351|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37547970|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:38757491|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110646	long QT syndrome 3	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0110646	long QT syndrome 3	treatment	ISO	RGD:731255	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:30566038|REF_RGD_ID:13831293
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0111073	progressive familial heart block		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac conduction defect progressive | ClinVar Annotator: match by term: Hereditary bundle branch system defect	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20395683|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0111073	progressive familial heart block		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac conduction defect progressive | ClinVar Annotator: match by term: Hereditary bundle branch system defect	PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35397174|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0111074	progressive familial heart block type IA		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	PMID:10471492|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20395683|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0111074	progressive familial heart block type IA		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary bundle branch system defect | ClinVar Annotator: match by term: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA	PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35397174|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:0111074	progressive familial heart block type IA	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:10273	heart conduction disease		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Conduction system disorder	PMID:10532948|PMID:10618304|PMID:11029409|PMID:11123251|PMID:11748104|PMID:11827685|PMID:1452303|PMID:14523039|PMID:15520322|PMID:18065446|PMID:19251209|PMID:20025708|PMID:20031634|PMID:20129283|PMID:20539757|PMID:20564468|PMID:21552533|PMID:25741868|PMID:28492532|PMID:28739862|PMID:29728395|PMID:30662450|PMID:32383558|PMID:32893267|PMID:34147702|PMID:36516610|PMID:37745129|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1059	intellectual disability		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:19694019|PMID:20129283|PMID:20301690|PMID:22789973|PMID:22840528|PMID:25741868|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30364184|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:10908	hydrocephalus		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19694019|PMID:20129283|PMID:20301690|PMID:22789973|PMID:22840528|PMID:25741868|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30364184|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:10969	hemiplegia		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hemiplegia	PMID:11804990|PMID:19056759|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:35352813|PMID:36129056|PMID:37351150|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1115	sarcoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:11830	myopia		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:24631775|PMID:25741868|PMID:25904541|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895|PMID:34930020
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:24721456|PMID:25741868|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12849	autistic disorder		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:22581653|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12849	autistic disorder		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1287	cardiovascular system disease		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:23098067|PMID:24631775|PMID:25741868|PMID:27287068|PMID:28370132|PMID:28492532|PMID:28611029|PMID:29247119|PMID:30059973|PMID:31130284|PMID:32449611|PMID:33221895|PMID:36007526|PMID:36129056
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:31333075|PMID:31568572|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31568572|PMID:32533946|PMID:33221895|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Left ventricular noncompaction 4 | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25348405|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28166811|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:32533946|PMID:33084224|PMID:33221895|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10966831|PMID:11804990|PMID:15671429|PMID:16267253|PMID:16379539|PMID:16453024|PMID:16611632|PMID:17442746|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24349418|PMID:24736382|PMID:24815523|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32533946|PMID:32880476|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34843967|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29798782|PMID:29871609|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31125670|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29798782|PMID:29871609|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30972196|PMID:31125670|PMID:31333075|PMID:31477192|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:37351150|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: ANKRD1-related dilated cardiomyopathy | ClinVar Annotator: match by term: Cardiomyopathy, Familial Idiopathic | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29798782|PMID:29871609|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30955239|PMID:30972196|PMID:31043699|PMID:31125670|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31935801|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:35352813|PMID:37351150|PMID:37652022|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27077130|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28807990|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29798782|PMID:29871609|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30847666|PMID:30955239|PMID:30972196|PMID:31043699|PMID:31125670|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31935801|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:35352813|PMID:37351150|PMID:37652022|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, CONGESTIVE | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:10966831|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12193783|PMID:12471205|PMID:12569159|PMID:12639704|PMID:14500339|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15851227|PMID:15992732|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16379539|PMID:16453014|PMID:16453024|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17275750|PMID:17442746|PMID:17675083|PMID:17892895|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18452875|PMID:18508782|PMID:19026623|PMID:19056759|PMID:19083750|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19412328|PMID:19561025|PMID:19716085|PMID:19799913|PMID:19841300|PMID:19862833|PMID:20110800|PMID:20129283|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20981092|PMID:21167004|PMID:21325150|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:22277643|PMID:22338672|PMID:22581653|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23091201|PMID:23299917|PMID:23571586|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24332150|PMID:24349418|PMID:24736382|PMID:24815523|PMID:24951663|PMID:25065297|PMID:25102755|PMID:25179549|PMID:25210054|PMID:25351510|PMID:25363768|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26066609|PMID:26159999|PMID:26189708|PMID:26332594|PMID:26467025|PMID:26633542|PMID:26733869|PMID:26746457|PMID:27077130|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28074886|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28807990|PMID:28837624|PMID:28988457|PMID:29431662|PMID:29798782|PMID:29871609|PMID:29998127|PMID:30086531|PMID:30193851|PMID:30364184|PMID:30847666|PMID:30955239|PMID:30972196|PMID:31043699|PMID:31125670|PMID:31332282|PMID:31333075|PMID:31514951|PMID:31568572|PMID:31610692|PMID:31737537|PMID:31901299|PMID:31935801|PMID:31983221|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33084224|PMID:33221895|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34935411|PMID:35352813|PMID:37351150|PMID:37652022|PMID:37732247|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: ANKRD1-related condition | ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10807545|PMID:10807547|PMID:11463728|PMID:11804990|PMID:11997281|PMID:12569159|PMID:12639704|PMID:14760488|PMID:14985827|PMID:15161528|PMID:15599693|PMID:15671429|PMID:15689442|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16379539|PMID:16712702|PMID:17161064|PMID:17210839|PMID:17442746|PMID:17675083|PMID:17993325|PMID:18048769|PMID:18093912|PMID:18156160|PMID:18362431|PMID:18426444|PMID:19083750|PMID:19412328|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:22277643|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24349418|PMID:24815523|PMID:25179549|PMID:25210054|PMID:25363768|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26733869|PMID:26746457|PMID:27485560|PMID:27532257|PMID:28074886|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29798782|PMID:29871609|PMID:30116708|PMID:30193851|PMID:30203441|PMID:31125670|PMID:31332282|PMID:31737537|PMID:31983221|PMID:32893267|PMID:33084224|PMID:33959699|PMID:34461752|PMID:34843967|PMID:35216338|PMID:35932045|PMID:36352534|PMID:37652022|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Dilated CardioMyopathy | ClinVar Annotator: match by term: Dilated cardiomyopathy | ClinVar Annotator: match by term: Familial dilated cardiomyopathy | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:11804990|PMID:15671429|PMID:16379539|PMID:18048769|PMID:19056759|PMID:19412328|PMID:19716085|PMID:20129283|PMID:20458009|PMID:20981092|PMID:21167004|PMID:21483645|PMID:21596231|PMID:22277643|PMID:22685113|PMID:22710484|PMID:22766342|PMID:22899775|PMID:22995991|PMID:22999724|PMID:24033266|PMID:24349418|PMID:24815523|PMID:25210054|PMID:25363768|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26746457|PMID:27485560|PMID:28074886|PMID:28492532|PMID:28549997|PMID:28573431|PMID:28701297|PMID:28837624|PMID:29798782|PMID:29871609|PMID:30116708|PMID:30193851|PMID:30203441|PMID:31125670|PMID:31332282|PMID:31737537|PMID:31983221|PMID:32893267|PMID:33959699|PMID:34461752|PMID:34843967|PMID:35216338|PMID:35352813|PMID:35932045|PMID:36129056|PMID:36352534|PMID:37351150|PMID:37652022|PMID:9521325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:13209	right bundle branch block		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Right bundle branch block	PMID:20129283|PMID:22789973|PMID:25741868|PMID:28492532|PMID:32893267|PMID:36091819
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:13884	sick sinus syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sinus node disease	PMID:20129283|PMID:22090166|PMID:22370247|PMID:22789973|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29798782|PMID:32268277|PMID:32533187|PMID:33164571|PMID:34135346|PMID:34649698|PMID:36713046
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1596	depressive disorder		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Depression	PMID:24631775|PMID:25741868|PMID:27287068|PMID:28370132|PMID:28492532|PMID:29247119|PMID:30059973|PMID:31130284|PMID:32449611|PMID:33221895|PMID:36007526|PMID:36129056
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1682	congenital heart disease		ISO	RGD:731255	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1826	epilepsy		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1909	melanoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:1969	cerebral palsy		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cerebral palsy	PMID:24631775|PMID:25741868|PMID:27287068|PMID:28370132|PMID:28492532|PMID:29247119|PMID:30059973|PMID:31130284|PMID:32449611|PMID:33221895|PMID:36007526|PMID:36129056
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2030	anxiety disorder		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:24136861|PMID:24631775|PMID:25741868|PMID:27287068|PMID:28074886|PMID:28370132|PMID:28492532|PMID:29247119|PMID:29540472|PMID:29574140|PMID:29798782|PMID:30059973|PMID:30086531|PMID:30847666|PMID:31130284|PMID:31737537|PMID:32268277|PMID:32449611|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33221895|PMID:33996946|PMID:36007526|PMID:36011376|PMID:36129056|PMID:36516610|PMID:36724992|PMID:38731905
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2316	brain ischemia		ISO	RGD:3637	D	RGD:9068941	20200609	RGD			PMID:19471098|REF_RGD_ID:6484225
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2841	asthma		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:20129283|PMID:24136861|PMID:25741868|PMID:28074886|PMID:28492532|PMID:29540472|PMID:30086531|PMID:31737537|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33221895|PMID:33996946|PMID:36011376|PMID:36516610|PMID:36724992|PMID:38731905
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:25923670|PMID:26022185|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31737537|PMID:31866066|PMID:31983221|PMID:32009526|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33535892|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10377081|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650879|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14676229|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17075016|PMID:17088455|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20636320|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:22090165|PMID:22090166|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24573164|PMID:24596401|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26332594|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30385166|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31737537|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32096284|PMID:32153684|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:33131149|PMID:33221895|PMID:33535892|PMID:34021086|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31614475|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34219138|PMID:34426522|PMID:34758253|PMID:35535697|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30193851|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31900993|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34758253|PMID:34843967|PMID:35052356|PMID:35535697|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12085742|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16611632|PMID:16712702|PMID:16731473|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23158531|PMID:23174487|PMID:23293604|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23838598|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24439875|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29956481|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30677491|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31057083|PMID:31231243|PMID:31262209|PMID:31337358|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33535892|PMID:33712541|PMID:34021086|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34620408|PMID:34758253|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35284542|PMID:35397174|PMID:35535697|PMID:35701104|PMID:36007526|PMID:36129056|PMID:36291626|PMID:36303204|PMID:36516610|PMID:36973604|PMID:37461109|PMID:37904629|PMID:539905|PMID:617273|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated	PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25119684|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26383259|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:26921764|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27711072|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28491738|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29325976|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29915097|PMID:29953624|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31057083|PMID:31262209|PMID:31337358|PMID:31371804|PMID:31395126|PMID:31447099|PMID:31478073|PMID:31501239|PMID:31514951|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33390472|PMID:33535892|PMID:33552729|PMID:33712541|PMID:34021086|PMID:34034907|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34620408|PMID:34649698|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35052356|PMID:35113648|PMID:35284542|PMID:35397174|PMID:35535697|PMID:35701104|PMID:35956023|PMID:36007526|PMID:36129056|PMID:36178741|PMID:36291626|PMID:36303204|PMID:36516610|PMID:36973604|PMID:37061847|PMID:37298497|PMID:37461109|PMID:37732247|PMID:37904629|PMID:539905|PMID:545017|PMID:617273|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:10200053|PMID:10377081|PMID:10448858|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10807545|PMID:10807547|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11807557|PMID:11823453|PMID:11901046|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12574983|PMID:12639704|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12877697|PMID:12898257|PMID:14500339|PMID:1452303|PMID:14523039|PMID:14654377|PMID:14676229|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15120823|PMID:15136511|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15184283|PMID:15466642|PMID:15485686|PMID:15579534|PMID:15599693|PMID:15621041|PMID:15670972|PMID:15689442|PMID:15840476|PMID:15851227|PMID:15877619|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16188595|PMID:16199547|PMID:16239976|PMID:16244680|PMID:16254012|PMID:16267253|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16540748|PMID:16611632|PMID:16686678|PMID:16712702|PMID:16731473|PMID:16754261|PMID:16798729|PMID:16922724|PMID:16980337|PMID:17075016|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17275750|PMID:17438607|PMID:17438610|PMID:17504259|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18060054|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18362431|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18697752|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18822425|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19017345|PMID:19019189|PMID:19026623|PMID:19027780|PMID:19029124|PMID:19083750|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19799913|PMID:19808432|PMID:19808440|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20110800|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20636320|PMID:20728579|PMID:20812931|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21109022|PMID:21126620|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21270786|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21350584|PMID:21385947|PMID:21483645|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21908450|PMID:21911102|PMID:22090165|PMID:22090166|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22426227|PMID:22490985|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23158531|PMID:23174487|PMID:23321620|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23840796|PMID:23861362|PMID:23936059|PMID:23998552|PMID:24033266|PMID:24055113
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:24112685|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24317018|PMID:24332150|PMID:24349418|PMID:2437023|PMID:24388587|PMID:24439875|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24709866|PMID:24713084|PMID:24721456|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24951663|PMID:24963427|PMID:25051102|PMID:25065297|PMID:25175087|PMID:25210054|PMID:25210526|PMID:25254341|PMID:25294783|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25741912|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26111534|PMID:26125038|PMID:26132555|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26383259|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26669661|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26803770|PMID:26822237|PMID:26888838|PMID:26916278|PMID:26921764|PMID:27041096|PMID:27041150|PMID:27077130|PMID:27153395|PMID:27287068|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27681629|PMID:27711072|PMID:27930701|PMID:27981572|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28491738|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28725320|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29325976|PMID:29331327|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449963|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759671|PMID:29764897|PMID:29766883|PMID:29790872|PMID:29791480|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29874177|PMID:29915097|PMID:29953624|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30143662|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30385166|PMID:30497561|PMID:30530868|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30755392|PMID:30758498|PMID:30828412|PMID:30847666|PMID:30955239|PMID:30972196|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31125670|PMID:31130284|PMID:31257342|PMID:31262209|PMID:31337358|PMID:31371804|PMID:31395126|PMID:31410243|PMID:31447099|PMID:31478073|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31866066|PMID:31900993|PMID:31928070|PMID:31928344|PMID:31935801|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32096284|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32652122|PMID:32746448|PMID:32848785|PMID:32893267|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33390472|PMID:33535892|PMID:33552729|PMID:33662488|PMID:33712541|PMID:33874732|PMID:34021086|PMID:34034907|PMID:34076677|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34486814|PMID:34620408|PMID:34628415|PMID:34649698|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:34957250|PMID:35026164|PMID:35052356|PMID:35113648|PMID:35257103|PMID:35284542|PMID:35305865|PMID:35394010|PMID:35397174|PMID:35534676|PMID:35535697|PMID:35701104|PMID:35932045|PMID:35956023|PMID:36007526
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome, drug-associated | ClinVar Annotator: match by term: Prolonged QT interval	PMID:36129056|PMID:36178741|PMID:36303204|PMID:36352534|PMID:36396199|PMID:36516610|PMID:36788754|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37089884|PMID:37298497|PMID:37449562|PMID:37461109|PMID:37477868|PMID:37652022|PMID:37732247|PMID:37745129|PMID:37894777|PMID:37904629|PMID:37937776|PMID:37967257|PMID:38099441|PMID:38489124|PMID:38534782|PMID:38539105|PMID:39481677|PMID:39486665|PMID:7651517|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:10200053|PMID:10508990|PMID:10618304|PMID:10627139|PMID:10690282|PMID:10727653|PMID:10758053|PMID:10772658|PMID:10961955|PMID:10973849|PMID:11076825|PMID:11150514|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11410597|PMID:11463728|PMID:11535573|PMID:11710892|PMID:11748104|PMID:11807557|PMID:11823453|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12123767|PMID:12208804|PMID:12209021|PMID:12354768|PMID:12566525|PMID:12574143|PMID:12574983|PMID:12650885|PMID:12673799|PMID:12695286|PMID:12820704|PMID:12898257|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14736542|PMID:14760488|PMID:14961552|PMID:14990510|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15176425|PMID:15184283|PMID:15466642|PMID:15621041|PMID:15670972|PMID:15840476|PMID:15851227|PMID:15877619|PMID:15910881|PMID:15996170|PMID:16039271|PMID:16199547|PMID:16244680|PMID:16254012|PMID:16344400|PMID:16414944|PMID:16505387|PMID:16540748|PMID:16712702|PMID:16922724|PMID:16980337|PMID:17088455|PMID:17118339|PMID:17161064|PMID:17210839|PMID:17438607|PMID:17438610|PMID:17605181|PMID:17697823|PMID:17698727|PMID:17905336|PMID:18060054|PMID:18071069|PMID:18378609|PMID:18436145|PMID:18452873|PMID:18508782|PMID:18752142|PMID:18752973|PMID:18822425|PMID:18848812|PMID:18929331|PMID:18984535|PMID:19026623|PMID:19027780|PMID:19167345|PMID:19167409|PMID:19171938|PMID:19251209|PMID:19302788|PMID:19406494|PMID:19411664|PMID:19412328|PMID:19666841|PMID:19716085|PMID:19762097|PMID:19808432|PMID:19841300|PMID:19843919|PMID:19843921|PMID:19862833|PMID:19863579|PMID:19996378|PMID:20031634|PMID:20090423|PMID:20102864|PMID:20102920|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20339117|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20875080|PMID:20981092|PMID:21051419|PMID:21076026|PMID:21126620|PMID:21167004|PMID:21185501|PMID:21193062|PMID:21216356|PMID:21273195|PMID:21350584|PMID:21483645|PMID:21596231|PMID:21908450|PMID:21911102|PMID:22129298|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370996|PMID:22373669|PMID:22378279|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22685113|PMID:22705208|PMID:22710484|PMID:22721569|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22936642|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23104914|PMID:23158531|PMID:23382499|PMID:23414114|PMID:23503384|PMID:23631430|PMID:23692053|PMID:23805106|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24112685|PMID:24136861|PMID:24144883|PMID:24218437|PMID:24349418|PMID:2437023|PMID:24573164|PMID:24596401|PMID:24599044|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24709866|PMID:24721456|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25254341|PMID:25326637|PMID:25348405|PMID:25370050|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25741286|PMID:25741868|PMID:25757662|PMID:25904541|PMID:25923670|PMID:26111534|PMID:26150789|PMID:26159999|PMID:26164358|PMID:26209461|PMID:26213684|PMID:26283144|PMID:26304620|PMID:26332594|PMID:26383259|PMID:26412604|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26888838|PMID:26921764|PMID:27041150|PMID:27153395|PMID:27287068|PMID:27485560|PMID:27566755|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28087622|PMID:28150151|PMID:28183995|PMID:28265756|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28438721|PMID:28491738|PMID:28492532|PMID:28494446|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28988457|PMID:29032884|PMID:29132927|PMID:29247119|PMID:29325976|PMID:29396286|PMID:29396561|PMID:29544605|PMID:29574140|PMID:29654130|PMID:29691127|PMID:29709244|PMID:29728395|PMID:29766883|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29953624|PMID:30059973|PMID:30116708|PMID:30143662|PMID:30193851|PMID:30203441|PMID:30291343
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2843	long QT syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acquired long QT syndrome | ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome	PMID:30364184|PMID:30369311|PMID:30497561|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31125670|PMID:31130284|PMID:31231243|PMID:31257342|PMID:31371804|PMID:31447099|PMID:31501239|PMID:31610692|PMID:31614475|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31900993|PMID:31983221|PMID:32009526|PMID:32091595|PMID:32153684|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32437023|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32746448|PMID:32848785|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33390472|PMID:33535892|PMID:33662488|PMID:33874732|PMID:33959699|PMID:34034907|PMID:34076677|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34379075|PMID:34461752|PMID:34843967|PMID:34930020|PMID:35113648|PMID:35257103|PMID:35284542|PMID:35305865|PMID:35397174|PMID:35701104|PMID:35753512|PMID:35932045|PMID:35956023|PMID:36007526|PMID:36129056|PMID:36303204|PMID:36352534|PMID:36516610|PMID:36964972|PMID:37089884|PMID:37461109|PMID:37477868|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39596046|PMID:39714775|PMID:40209984|PMID:41596527|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:2871	endometrial carcinoma		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Endometrial carcinoma	PMID:19606473|PMID:20129283|PMID:20395683|PMID:22739120|PMID:24136861|PMID:24529773|PMID:25467552|PMID:25741868|PMID:26173111|PMID:28344931|PMID:28431631|PMID:28449774|PMID:28492532|PMID:32533946|PMID:36305856|PMID:38003592
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:3459	breast carcinoma		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:11535573|PMID:12566525|PMID:16039271|PMID:19841300|PMID:21185501|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:18752142|PMID:18752973|PMID:25326637|PMID:25741868|PMID:25904541|PMID:28492532|PMID:30662450|PMID:32233023|PMID:35397174|PMID:36129056|PMID:39073097
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:423	myopathy		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: myopathy	PMID:25741868|PMID:28492532|PMID:30244407|PMID:31737537|PMID:32431610|PMID:36516610|PMID:37547970|PMID:37795979
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:16199547|PMID:20129283|PMID:22789973|PMID:28492532|PMID:31737537
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:6000	congestive heart failure		ISO	RGD:731255	D	RGD:8554872	20250408	ClinVar		ClinVar Annotator: match by term: Heart failure	PMID:25741868
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:630	genetic disease		ISO	RGD:731255	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10471492|PMID:10940383|PMID:11710892|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22766342|PMID:22840528|PMID:22999724|PMID:25274057|PMID:9753711
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:6364	migraine		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Migraine Disorders	PMID:11804990|PMID:19056759|PMID:24033266|PMID:25741868|PMID:28492532|PMID:31983221|PMID:35352813|PMID:36129056|PMID:37351150|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:720	normocytic anemia		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Normocytic anemia	PMID:17905336|PMID:20137763|PMID:21908450|PMID:25741868|PMID:25904541|PMID:27930701|PMID:28412158|PMID:28492532|PMID:30828412|PMID:32746448|PMID:32893267|PMID:35113648|PMID:36964972|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:848	arthritis		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthritis	PMID:17905336|PMID:20137763|PMID:21908450|PMID:25741868|PMID:25904541|PMID:27930701|PMID:28412158|PMID:28492532|PMID:30828412|PMID:32746448|PMID:32893267|PMID:35113648|PMID:36964972|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:8778	Crohn's disease		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Crohn disease	PMID:17905336|PMID:20137763|PMID:21908450|PMID:25741868|PMID:25904541|PMID:27930701|PMID:28412158|PMID:28492532|PMID:30828412|PMID:32746448|PMID:32893267|PMID:35113648|PMID:36964972|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000060	Cardiac Conduction Defect, Nonspecific		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiac conduction defect, nonspecific	PMID:11748104|PMID:1452303|PMID:14523039|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20539757|PMID:25741868|PMID:28492532|PMID:30662450|PMID:32893267|PMID:34147702|PMID:36516610|PMID:37745129
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26801742|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29915097|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30371189|PMID:30419068|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31130284|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31534214|PMID:31568572|PMID:31680123|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31866066|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32153684|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32659924|PMID:32746448|PMID:32880476|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33712541|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16922724|PMID:17075016|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20812931|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24892747|PMID:24895455|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26304136|PMID:26332594|PMID:26406308|PMID:26423924|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27153395|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28166811|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29121719|PMID:29167113|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29874177|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29915097|PMID:29961767|PMID:29997009|PMID:29998127|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30244407|PMID:30254039|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30403391|PMID:30419068|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30670673|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30828412
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:30847666|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31397097|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31534214|PMID:31535183|PMID:31568572|PMID:31638414|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31866066|PMID:31901299|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32389048|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32516855|PMID:32533946|PMID:32619740|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32880476|PMID:32893267|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33712541|PMID:33764691|PMID:34019817|PMID:34021086|PMID:34092119|PMID:34127479|PMID:34219138|PMID:34426522|PMID:34620408|PMID:34755423|PMID:34758253|PMID:34930020|PMID:35535697|PMID:35663620|PMID:36197721|PMID:3953067|PMID:8661019|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:10377081|PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10711933|PMID:10727653|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:1097384|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11710892|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12085742|PMID:12106943|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12522116|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12877697|PMID:12898257|PMID:1309946|PMID:14500339|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15051636|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15178757|PMID:15266024|PMID:15277732|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15556047|PMID:15579534|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15890323|PMID:15992732|PMID:15996170|PMID:15998675|PMID:15998690|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16199547|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16505387|PMID:16521247|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16764707|PMID:16798729|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17088455|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17404158|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17504259|PMID:17510181|PMID:17512504|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18056581|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18180363|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18599870|PMID:18708744|PMID:18752142|PMID:18752973|PMID:18809926|PMID:18848812|PMID:18849657|PMID:18976777|PMID:18984535|PMID:19017345|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19083750|PMID:19167345|PMID:19251209|PMID:19272188|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19606473|PMID:19632629|PMID:19648062|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808398|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19957170|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:2030070|PMID:20384651|PMID:20386770|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20541041|PMID:20564468|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21135007|PMID:21143119|PMID:21167004|PMID:21167176|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21566136|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22090165|PMID:22090166|PMID:22216297|PMID:22247482|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22402334|PMID:22407026|PMID:22426227|PMID:2247482|PMID:22490985|PMID:22519808|PMID:22529811|PMID:22557970|PMID:22581653|PMID:22675453
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23091201|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23139254|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23237912|PMID:23293604|PMID:23299917|PMID:23321620|PMID:23376825|PMID:23382499|PMID:23396983|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:235469|PMID:235504|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:23963187|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24388587|PMID:24400668|PMID:24439875|PMID:24463578|PMID:24524602|PMID:24529773|PMID:24573164|PMID:24573764|PMID:24582607|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24713084|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762593|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24871449|PMID:24892747|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24963427|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25119684|PMID:25163546|PMID:25171853|PMID:25172307|PMID:25175087|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25261036|PMID:25294783|PMID:25326637|PMID:25344691|PMID:25348405|PMID:25351510|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25554238|PMID:25616976|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:256650|PMID:25741868|PMID:25748040|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26066609|PMID:26071830|PMID:26111534|PMID:26125038|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26136871|PMID:26154754|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26189708|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26392562|PMID:26406308|PMID:26412604|PMID:26423924|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26801742|PMID:26803770|PMID:26820365|PMID:26822237|PMID:26828384|PMID:26884609|PMID:26916278|PMID:26921764|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27108952|PMID:27153395|PMID:27232914|PMID:27281089|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27529593|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27834932|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28018021|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28183570|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28391114|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28469501|PMID:28472724|PMID:28482396|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28518168|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28637969|PMID:28638671|PMID:28704380|PMID:28725320|PMID:28734073|PMID:28739862|PMID:28779003|PMID:28781330|PMID:28781849|PMID:28790152|PMID:28794082|PMID:28798025|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29062695|PMID:29095814|PMID:29121719|PMID:29132927|PMID:29167113|PMID:291807|PMID:29202755
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:29247119|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29343803|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29579189|PMID:29606593|PMID:29672598|PMID:29691127|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29766885|PMID:29773157|PMID:29790872|PMID:29791480|PMID:29806494|PMID:29874177|PMID:29884292|PMID:29892087|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29915097|PMID:29956481|PMID:29961767|PMID:29970176|PMID:29997009|PMID:29998127|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30153324|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30244407|PMID:30246897|PMID:30254039|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30369311|PMID:30371189|PMID:30385166|PMID:30403391|PMID:30419068|PMID:30420678|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30670673|PMID:30677491|PMID:30690642|PMID:30700137|PMID:30755392|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30891416|PMID:30972196|PMID:30975432|PMID:31019283|PMID:31020160|PMID:31032819|PMID:31043699|PMID:31057083|PMID:31069529|PMID:31130284|PMID:31191357|PMID:31231243|PMID:31262209|PMID:31333075|PMID:31337358|PMID:31371804|PMID:31385086|PMID:31397097|PMID:3142281|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31514951|PMID:31521807|PMID:31534214|PMID:31535183|PMID:31564432|PMID:31568572|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31680123|PMID:31696929|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31751991|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31901299|PMID:31918855|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32096284|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32355288|PMID:32371921|PMID:32383558|PMID:32389048|PMID:32431610|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32516855|PMID:32533187|PMID:32533946|PMID:32553227|PMID:32553838|PMID:32600061|PMID:32619740|PMID:32652122|PMID:32659924|PMID:32746448|PMID:32789579|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931730|PMID:33029862|PMID:33071830|PMID:33083013|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33213388|PMID:33221895|PMID:33232181|PMID:33258288|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33641026|PMID:33662488|PMID:33712541|PMID:33764691|PMID:33789662|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34021086|PMID:34034907|PMID:34076677|PMID:34092119|PMID:34108154|PMID:34127479|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34379075|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34486814|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34628415|PMID:34645491|PMID:34649698|PMID:34678660|PMID:34755423|PMID:34758253|PMID:34814702|PMID:34843967|PMID:34856468|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35052356|PMID:35113648|PMID:35124229|PMID:35284224|PMID:35284542|PMID:35305865|PMID:35331424|PMID:35352813|PMID:35397174|PMID:35535697|PMID:35538921|PMID:35617207|PMID:35663620|PMID:35701104|PMID:35703482|PMID:35932045|PMID:36007526|PMID:36129056|PMID:36143288|PMID:36197721|PMID:36252119|PMID:36291626|PMID:36303204|PMID:36354768|PMID:36516610|PMID:36588553|PMID:36724992|PMID:36881552|PMID:36927930|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37746560|PMID:37904629|PMID:3953067|PMID:461398|PMID:539905|PMID:545017|PMID:617273|PMID:748006|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:8972392|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10727653|PMID:10807545|PMID:10911008|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12354768|PMID:12522116|PMID:12566525|PMID:12566542|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:1452303|PMID:14523039|PMID:14607451|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15176425|PMID:15338453|PMID:15466642|PMID:15466643|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15828879|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:15998690|PMID:16039271|PMID:16155735|PMID:16199547|PMID:16267250|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16505387|PMID:16540748|PMID:16568155|PMID:16643399|PMID:16684018|PMID:16686678|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16798729|PMID:16864729|PMID:16922724|PMID:17081365|PMID:17118339|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17368591|PMID:17404158|PMID:17510181|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18056581|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18616619|PMID:18752142|PMID:18752973|PMID:18822425|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19167345|PMID:19171938|PMID:19214780|PMID:19251209|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19597050|PMID:19606473|PMID:19648062|PMID:19694019|PMID:19716085|PMID:19762097|PMID:19808477|PMID:19829766|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20386770|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20625312|PMID:20636320|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21596231|PMID:21824921|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22090166|PMID:22247482|PMID:22331908|PMID:22337857|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22739120|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23283222|PMID:23321620|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23683917|PMID:23714088|PMID:23785128|PMID:23791817|PMID:2380016|PMID:23805106|PMID:23840796|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24317018|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24895455|PMID:24981977|PMID:25051102|PMID:25163546|PMID:25171853|PMID:25210526|PMID:25261036|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25363768|PMID:25370050|PMID:25410959
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:25525159|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25829473|PMID:25904541|PMID:26022185|PMID:26036855|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26132555|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26656175|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26822237|PMID:26884609|PMID:26916278|PMID:26921764|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27066507|PMID:27108952|PMID:27153395|PMID:27287068|PMID:27321809|PMID:27332903|PMID:27381756|PMID:27471188|PMID:27485560|PMID:27529593|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27635072|PMID:27650965|PMID:27668095|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28637969|PMID:28638671|PMID:28704380|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29062695|PMID:29095814|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29255176|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29331327|PMID:29343803|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29557500|PMID:29574140|PMID:29579189|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29764897|PMID:29773157|PMID:29790872|PMID:29798782|PMID:29806494|PMID:29884292|PMID:29892087|PMID:29895855|PMID:29907895|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30367326|PMID:30369311|PMID:30371189|PMID:30371277|PMID:30419068|PMID:30420678|PMID:30532816|PMID:30615648|PMID:30662450|PMID:30669290|PMID:30690642|PMID:30700137|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30868116|PMID:30975432|PMID:31019283|PMID:31032819|PMID:31043699|PMID:31069529|PMID:31114860|PMID:31130284|PMID:31231243|PMID:31332282|PMID:31337358|PMID:31371804|PMID:31385086|PMID:31397097|PMID:3142281|PMID:31440721|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31534214|PMID:31535183|PMID:31638414|PMID:31696929|PMID:31698696|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31776209|PMID:31865383|PMID:31866066|PMID:31892348|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533187|PMID:32533946|PMID:32569350|PMID:32573973|PMID:32581083|PMID:32600061|PMID:32652122|PMID:32659924|PMID:32709127|PMID:32746448|PMID:32789579|PMID:32826072|PMID:32848785|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33087929|PMID:33131149|PMID:33195263|PMID:33213388|PMID:33221895|PMID:33258288|PMID:33500567|PMID:33552729|PMID:33665115|PMID:33712541|PMID:33789662|PMID:33797273|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34108154|PMID:34135346|PMID:34147702|PMID:34202524|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:34628415|PMID:34643236|PMID:34649698|PMID:34671977|PMID:34678660|PMID:34755423|PMID:34814702|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35026164|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35216338|PMID:35257103|PMID:35284224|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35394010|PMID:35397174|PMID:35534676|PMID:35617207|PMID:35650162|PMID:35663620|PMID:35701104|PMID:35753512|PMID:35932045|PMID:35947370|PMID:36007526|PMID:36011376|PMID:36129056|PMID:36143288|PMID:36197721|PMID:36303204|PMID:36352534|PMID:36354768|PMID:36396199|PMID:36516610|PMID:36578016|PMID:36721086|PMID:36724992|PMID:36725176|PMID:36788754|PMID:36881552|PMID:36927930|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37089884|PMID:37227351|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37477868|PMID:37508981|PMID:37547970|PMID:37614113|PMID:37652022|PMID:37653714|PMID:37732247|PMID:37745129|PMID:37746560|PMID:37937776|PMID:37967257|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38489124|PMID:38504463|PMID:38539105|PMID:38731905|PMID:38757491|PMID:38820625|PMID:38926839|PMID:39068400|PMID:39073097|PMID:39119706|PMID:39134129|PMID:39333091|PMID:39486665|PMID:3953067|PMID:39611258|PMID:40800556|PMID:41065902|PMID:41392967|PMID:7889574|PMID:8541846|PMID:8620612|PMID:8661019|PMID:8917568|PMID:9521325|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10690282|PMID:10727653|PMID:10911008|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11274952|PMID:11304498|PMID:11417215|PMID:11463728|PMID:11535573|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11807557|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12051963|PMID:12084774|PMID:12106943|PMID:12354768|PMID:12566525|PMID:12566542|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:12898257|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14736542|PMID:14753626|PMID:14760488|PMID:14961552|PMID:14985827|PMID:14998624|PMID:15028074|PMID:15047701|PMID:15121794|PMID:15176425|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16039271|PMID:16155735|PMID:16199547|PMID:16267250|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16505387|PMID:16540748|PMID:16568155|PMID:16643399|PMID:16707561|PMID:16712702|PMID:16798729|PMID:16922724|PMID:17081365|PMID:17118339|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17404158|PMID:17510181|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17697823|PMID:17698727|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18056581|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18375968|PMID:18378609|PMID:18426444|PMID:18436145|PMID:18451998|PMID:18452873|PMID:18465145|PMID:18503232|PMID:18508782|PMID:18596570|PMID:18616619|PMID:18752142|PMID:18752973|PMID:18822425|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19075524|PMID:19167345|PMID:19171938|PMID:19214780|PMID:19251209|PMID:19406494|PMID:19412328|PMID:19561025|PMID:19564561|PMID:19597050|PMID:19648062|PMID:19666841|PMID:19694019|PMID:19716085|PMID:19762097|PMID:19808477|PMID:19829766|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20110800|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20386770|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20541041|PMID:20566482|PMID:20609320|PMID:20875080|PMID:20877689|PMID:20960617|PMID:20960618|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21596231|PMID:21840964|PMID:21908450|PMID:21911102|PMID:22028457|PMID:22064211|PMID:22090166|PMID:22216297|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22370247|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22675453|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22705208|PMID:22739120|PMID:22789973|PMID:22795782|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22936642|PMID:22956155|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23085483|PMID:23098067|PMID:23104914|PMID:23105938|PMID:23158531|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23424222|PMID:23425522|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23683917|PMID:23714088|PMID:23785128|PMID:2380016|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24077912|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24223155|PMID:24227891|PMID:24317018|PMID:24349418|PMID:24363352|PMID:2437023|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24762805|PMID:24775617|PMID:24784157|PMID:24795344|PMID:24815523|PMID:24895455|PMID:24981977|PMID:25051102|PMID:25163546|PMID:25261036|PMID:25326637|PMID:25348405|PMID:25351510|PMID:25363768|PMID:25370050|PMID:25410959|PMID:25460174|PMID:25525159|PMID:25585270|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26036855|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26283144|PMID:26304136|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26656175|PMID:26669661|PMID:26704558|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:26921764|PMID:27000522|PMID:27026747|PMID:27041150|PMID:27108952|PMID:27153395|PMID:27287068|PMID:27321809|PMID:27471188|PMID:27485560|PMID:27529593|PMID:27554632|PMID:27566755|PMID:27600370|PMID:27635072|PMID:27650965|PMID:27668095|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087622|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28316956|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28549997|PMID:28567303|PMID:28573431|PMID:28589536|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28704380|PMID:28734073|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28837624|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29016939|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29255176|PMID:29306897|PMID:29309564|PMID:29325976|PMID:29343803|PMID:29349559|PMID:29396286|PMID:29396561|PMID:29420653|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29540472|PMID:29544605|PMID:29557500|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759522|PMID:29759671|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29884292|PMID:29892087|PMID:29895855|PMID:29907895|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30084490|PMID:30086531|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30218094|PMID:30232268|PMID:30254039|PMID:30279931|PMID:30291343|PMID:30364184|PMID:30367326|PMID:30369311|PMID:30371189|PMID:30371277|PMID:30419068|PMID:30420678|PMID:30532816|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30700137|PMID:30775854|PMID:30828412|PMID:30847666|PMID:30860130|PMID:30868116|PMID:30975432|PMID:31032819|PMID:31043699|PMID:31069529|PMID:31114860|PMID:31130284|PMID:31231243|PMID:31332282|PMID:31371804|PMID:31385086|PMID:31397097|PMID:3142281|PMID:31440721|PMID:31447099|PMID:31453232|PMID:31470130|PMID:31534214|PMID:31535183|PMID:31696929|PMID:31698696|PMID:31709321|PMID:31713545|PMID:31737537|PMID:31776209|PMID:31865383|PMID:31892348|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32055599|PMID:32091595|PMID:32145446|PMID:32153684|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32355288|PMID:32383558|PMID:32437023|PMID:32449611|PMID:32470535|PMID:32508047|PMID:32533187|PMID:32533946|PMID:32569350|PMID:32573973|PMID:32600061|PMID:32659924|PMID:32709127|PMID:32746448|PMID:32789579|PMID:32826072|PMID:32848785|PMID:32880476|PMID:32893267|PMID:32917565|PMID:32931854|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33195263|PMID:33213388|PMID:33221895|PMID:33258288|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33665115|PMID:33712541|PMID:33789662|PMID:33797273|PMID:33874732|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34108154|PMID:34127479|PMID:34135346|PMID:34147702|PMID:34202524|PMID:34219138|PMID:34298581|PMID:34302607|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34428338|PMID:34461752|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34628405|PMID:34628415|PMID:34649698|PMID:34671977|PMID:34678660|PMID:34755423|PMID:34814702|PMID:34843967|PMID:34930020|PMID:34935411|PMID:35026164|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35216338|PMID:35257103|PMID:35284224|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35617207|PMID:35650162|PMID:35663620|PMID:35701104|PMID:35753512|PMID:35932045|PMID:35934244|PMID:35947370
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Arrhythmia | ClinVar Annotator: match by term: Cardiac arrhythmia | ClinVar Annotator: match by term: RYR2-related condition | ClinVar Annotator: match by term: Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome	PMID:36007526|PMID:36011376|PMID:36129056|PMID:36143288|PMID:36197721|PMID:36303204|PMID:36352534|PMID:36354768|PMID:36516610|PMID:36578016|PMID:36713046|PMID:36721086|PMID:36724992|PMID:36788754|PMID:36881552|PMID:36927930|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37089884|PMID:37227351|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37477868|PMID:37508981|PMID:37547970|PMID:37614113|PMID:37652022|PMID:37653714|PMID:37745129|PMID:37746560|PMID:37937776|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:38731905|PMID:38757491|PMID:38820625|PMID:38926839|PMID:39068400|PMID:39073097|PMID:39119706|PMID:39134129|PMID:39333091|PMID:39611258|PMID:39714775|PMID:39977965|PMID:40800556|PMID:41392967|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:17675083|PMID:17993325
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884|PMID:37937776
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000543	Death		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Death in early adulthood	PMID:11997281|PMID:14760488|PMID:15840476|PMID:18071069|PMID:19167345|PMID:19716085|PMID:19841300|PMID:20129283|PMID:20486126|PMID:22378279|PMID:23631430|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24613995|PMID:24713084|PMID:25637381|PMID:25650408|PMID:25741868|PMID:25904541|PMID:26669661|PMID:26798387|PMID:27153395|PMID:27435932|PMID:27930701|PMID:28412158|PMID:28492532|PMID:28798025|PMID:29728395|PMID:29798782|PMID:29806494|PMID:29874177|PMID:30079003|PMID:30193851|PMID:31262209|PMID:31737537|PMID:32516855|PMID:32553227|PMID:34461752
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000727	Syncope		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Syncope	PMID:11535573|PMID:12566525|PMID:16039271|PMID:19841300|PMID:21185501|PMID:25741868|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:16199547|PMID:19167345|PMID:20129283|PMID:20301690|PMID:22789973|PMID:24606995|PMID:25741868|PMID:26111534|PMID:26798387|PMID:28492532|PMID:29709101|PMID:29798782|PMID:29806494|PMID:29884292|PMID:31737537|PMID:32893267|PMID:36143288|PMID:37746560
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9001276	Failure to Thrive		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9001581	Constipation		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	PMID:19694019|PMID:20129283|PMID:20301690|PMID:22789973|PMID:22840528|PMID:25741868|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30364184|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9002643	Long QT Syndrome 3/6		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 3/6, digenic	PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:12574983|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:16922724|PMID:19167409|PMID:19716085|PMID:19841300|PMID:19863579|PMID:20090423|PMID:20129283|PMID:22360817|PMID:24218437|PMID:25904541|PMID:28492532|PMID:34076677|PMID:9495298|PMID:9506831
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:10684611|PMID:10690282|PMID:11748104|PMID:11807557|PMID:11823453|PMID:11884381|PMID:12106943|PMID:12574143|PMID:12639704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14753626|PMID:14760488|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15671429|PMID:15689442|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:16155735|PMID:16199547|PMID:16267250|PMID:16325048|PMID:16453024|PMID:16505387|PMID:16568155|PMID:16643399|PMID:16707561|PMID:16764707|PMID:16922724|PMID:17210839|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17697823|PMID:17897635|PMID:17905336|PMID:18245395|PMID:18361072|PMID:18378609|PMID:18976777|PMID:19167345|PMID:19171938|PMID:19251209|PMID:19406494|PMID:19716085|PMID:19841300|PMID:19843921|PMID:20031634|PMID:20129283|PMID:20301690|PMID:20539757|PMID:20981092|PMID:21273195|PMID:21840964|PMID:22028457|PMID:22373669|PMID:22378279|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22789973|PMID:22795782|PMID:22885917|PMID:22899775|PMID:23098067|PMID:23104914|PMID:23414114|PMID:23425522|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24136861|PMID:24529773|PMID:24582607|PMID:24606995|PMID:24631775|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:25051102|PMID:25348405|PMID:25741868|PMID:25829473|PMID:25904541|PMID:26111534|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26220391|PMID:26283144|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26798387|PMID:26921764|PMID:27153395|PMID:27287068|PMID:27554632|PMID:27668095|PMID:27784737|PMID:28069705|PMID:28341588|PMID:28341781|PMID:28370132|PMID:28472724|PMID:28491738|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:29247119|PMID:29325976|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29759522|PMID:29798782|PMID:29806494|PMID:29884292|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30146492|PMID:30193851|PMID:30203441|PMID:30419068|PMID:30662450|PMID:31043699|PMID:31130284|PMID:31231243|PMID:31371804|PMID:31447099|PMID:31696929|PMID:31737537|PMID:31776209|PMID:32268277|PMID:32449611|PMID:32533946|PMID:32600061|PMID:32893267|PMID:33071830|PMID:33131149|PMID:33221895|PMID:34147702|PMID:34194985|PMID:34575961|PMID:34643236|PMID:34930020|PMID:35052356|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35701104|PMID:35753512|PMID:36007526|PMID:36129056|PMID:36143288|PMID:36197721|PMID:36516610|PMID:36721086|PMID:37061847|PMID:37461109|PMID:37745129|PMID:37746560|PMID:38036776|PMID:38504463|PMID:9536098
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003163	Heart Block		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Conduction disorder of the heart	PMID:25741868|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003450	Nonprogressive Heart Block		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: HEART BLOCK, NONPROGRESSIVE	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003507	Premature Birth		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003539	Hyperacusis		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34426522|PMID:34539730|PMID:34930020|PMID:8661019|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26209461|PMID:26213684|PMID:26214305
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31610692|PMID:31638414|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34539730|PMID:34930020|PMID:34935411|PMID:36129056|PMID:8661019|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:10508990|PMID:10807545|PMID:10807547|PMID:10940383|PMID:10961955|PMID:10966831|PMID:10973849|PMID:11222472|PMID:11463728|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12193783|PMID:12354768|PMID:12471205|PMID:12566525|PMID:12569159|PMID:12574143|PMID:12639704|PMID:12820704|PMID:14500339|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14961552|PMID:14967853|PMID:14985827|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15161528|PMID:15176425|PMID:15266024|PMID:15338453|PMID:15466642|PMID:15556047|PMID:15599693|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851228|PMID:15851440|PMID:15992732|PMID:15996170|PMID:15998675|PMID:16061744|PMID:16132053|PMID:16155735|PMID:16239976|PMID:16267250|PMID:16267253|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453014|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16611632|PMID:16707561|PMID:16712702|PMID:16731473|PMID:16922724|PMID:17141278|PMID:17161064|PMID:17185997|PMID:17210839|PMID:17210841|PMID:17227473|PMID:17275750|PMID:17331104|PMID:17368591|PMID:17438607|PMID:17438610|PMID:17442746|PMID:17576681|PMID:17587741|PMID:17605181|PMID:17646591|PMID:17675083|PMID:17854786|PMID:17892895|PMID:17897635|PMID:17905336|PMID:17908752|PMID:17967976|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18093912|PMID:18156160|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18362431|PMID:18368697|PMID:18378609|PMID:18426444|PMID:18451998|PMID:18452873|PMID:18452875|PMID:18456723|PMID:18508782|PMID:18809926|PMID:18849657|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19083750|PMID:19251209|PMID:19302788|PMID:19305408|PMID:19305409|PMID:19322600|PMID:19406494|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19706159|PMID:19716085|PMID:19799913|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19843921|PMID:19862833|PMID:19996378|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20470418|PMID:20486126|PMID:20539757|PMID:20566482|PMID:20609320|PMID:20636320|PMID:20646679|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21306642|PMID:21321465|PMID:21325150|PMID:21385947|PMID:21410720|PMID:21498565|PMID:21596231|PMID:21621375|PMID:21622575|PMID:21705349|PMID:21726068|PMID:21840964|PMID:22247482|PMID:22277643|PMID:22337857|PMID:22338672|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22490985|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22739120|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22984773|PMID:22995991|PMID:23008441|PMID:23091201|PMID:23098067|PMID:23139254|PMID:23174487|PMID:23299917|PMID:23321620|PMID:23382499|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23671135|PMID:23692053|PMID:23714088|PMID:23805106|PMID:23838598|PMID:23853484|PMID:23861362|PMID:23874304|PMID:23936059|PMID:24033266|PMID:24055113|PMID:24059039|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24295898|PMID:24317018|PMID:24332150|PMID:24363352|PMID:24388587|PMID:24400668|PMID:24463578|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24667783|PMID:24681144|PMID:24721456|PMID:24721642|PMID:24736382|PMID:24762805|PMID:24784157|PMID:24815523|PMID:24895455|PMID:24948852|PMID:24951569|PMID:24951663|PMID:24981977|PMID:25051102|PMID:25065297|PMID:25102755|PMID:25171853|PMID:25172307|PMID:25179549|PMID:25194972|PMID:25210526|PMID:25326637|PMID:25351510|PMID:25410959|PMID:25554238|PMID:25624448|PMID:25637381|PMID:25649125|PMID:25650408|PMID:25741868|PMID:25757662|PMID:25815641|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS BRADYCARDIA SYNDROME, FAMILIAL | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26633542|PMID:26636822|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26822237|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28807990|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29331327|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29764897|PMID:29790872|PMID:29884292|PMID:29895855|PMID:29907873|PMID:29961767|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30146492|PMID:30193851|PMID:30244407|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30662450|PMID:30690642|PMID:30847666|PMID:30972196|PMID:31019283|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31696929|PMID:31737537|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32850980|PMID:32880476|PMID:32893267|PMID:33029862|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34621001|PMID:34930020|PMID:34935411|PMID:36129056|PMID:37061847|PMID:8661019|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS NODE DISEASE, FAMILIAL, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sick sinus syndrome 1 | ClinVar Annotator: match by term: Sick sinus syndrome 1, autosomal recessive	PMID:25904541|PMID:25923670|PMID:26022185|PMID:26031372|PMID:26111534|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26164358|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26214305|PMID:26220391|PMID:26281194|PMID:26282245|PMID:26332594|PMID:26406308|PMID:26467025|PMID:26467377|PMID:26538325|PMID:26632536|PMID:26633542|PMID:26636822|PMID:26669661|PMID:26680202|PMID:26713557|PMID:26733869|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26771585|PMID:26798387|PMID:26820365|PMID:26884609|PMID:26916278|PMID:27000522|PMID:27026747|PMID:27066507|PMID:27077130|PMID:27082542|PMID:27153395|PMID:27207958|PMID:27232914|PMID:27287068|PMID:27332903|PMID:27381756|PMID:27435932|PMID:27485560|PMID:27532257|PMID:27554632|PMID:27566755|PMID:27650965|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27816319|PMID:27871843|PMID:27896284|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28150151|PMID:28152038|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28359509|PMID:28370132|PMID:28412158|PMID:28416588|PMID:28438721|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28498465|PMID:28567303|PMID:28600387|PMID:28638671|PMID:28725320|PMID:28781330|PMID:28790152|PMID:28831623|PMID:28834665|PMID:28878402|PMID:28988457|PMID:29032884|PMID:29033053|PMID:29038103|PMID:29132927|PMID:29167113|PMID:291807|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29420653|PMID:29431662|PMID:29447731|PMID:29449639|PMID:29449963|PMID:29517769|PMID:29540472|PMID:29540853|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709101|PMID:29709244|PMID:29728395|PMID:29748316|PMID:29759671|PMID:29895855|PMID:29907873|PMID:29907895|PMID:29961767|PMID:29970176|PMID:29997009|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30122538|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30244407|PMID:30246897|PMID:30279931|PMID:30364184|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30609406|PMID:30615648|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:30891416|PMID:30972196|PMID:31043699|PMID:31191357|PMID:31337358|PMID:31447099|PMID:31470130|PMID:31521807|PMID:31534214|PMID:31610692|PMID:31638414|PMID:31657683|PMID:31696929|PMID:31737537|PMID:31847883|PMID:31865383|PMID:31866066|PMID:31928070|PMID:31981491|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32145446|PMID:32233023|PMID:32268277|PMID:32323320|PMID:32371921|PMID:32431610|PMID:32449611|PMID:32470535|PMID:32533946|PMID:32553838|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32850980|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33083013|PMID:33084224|PMID:33087929|PMID:33131149|PMID:33164571|PMID:33221895|PMID:33232181|PMID:33338828|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33641026|PMID:33906374|PMID:33919104|PMID:33996946|PMID:34019817|PMID:34122134|PMID:34219138|PMID:34379075|PMID:34426522|PMID:34461752|PMID:34539730|PMID:34546463|PMID:34555931|PMID:34620408|PMID:34621001|PMID:34649698|PMID:34678660|PMID:34930020|PMID:34935411|PMID:35027292|PMID:35113648|PMID:35124229|PMID:35703482|PMID:36091819|PMID:36129056|PMID:36303204|PMID:36516610|PMID:36724992|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37904629|PMID:461398|PMID:8661019|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12123767|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17697823|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25410959|PMID:25460174|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26743238|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27676163|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087622|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28412158|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial sick sinus syndrome | ClinVar Annotator: match by term: SICK SINUS SYNDROME 1 | ClinVar Annotator: match by term: SINUS RHYTHM, CONGENITAL ABSENCE OF | ClinVar Annotator: match by term: Sick sinus syndrome 1	PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36091819|PMID:36129056|PMID:36303204|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003705	Sick Sinus Syndrome 1, Autosomal Recessive	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9003717	nonischemic cardiomyopathy		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Non ischemic cardiomyopathy	PMID:25741868|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:12354768|PMID:12820704|PMID:15466642|PMID:15840476|PMID:16540748|PMID:17161064|PMID:17210839|PMID:18071069|PMID:18452873|PMID:18752142|PMID:18752973|PMID:19412328|PMID:20403459|PMID:20875080|PMID:22378279|PMID:23008441|PMID:23098067|PMID:24033266|PMID:24653702|PMID:25326637|PMID:25741868|PMID:26209461|PMID:26467025|PMID:26749013|PMID:27287068|PMID:28265756|PMID:28492532|PMID:28781330|PMID:29032884|PMID:32233023|PMID:35397174|PMID:36129056|PMID:37937776|PMID:39073097
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9004538	Hearing Loss		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11535573|PMID:12566525|PMID:16039271|PMID:19841300|PMID:21185501|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9004730	Romano-Ward Syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation with prolonged QT interval	PMID:10200053|PMID:10508990|PMID:10618304|PMID:10772658|PMID:10973849|PMID:11410597|PMID:11710892|PMID:11748104|PMID:11823453|PMID:12574983|PMID:1452303|PMID:14523039|PMID:14736542|PMID:14990510|PMID:15051636|PMID:15184283|PMID:15621041|PMID:15670972|PMID:15840476|PMID:16199547|PMID:16254012|PMID:16922724|PMID:16980337|PMID:17118339|PMID:17697823|PMID:17905336|PMID:18378609|PMID:18929331|PMID:19167345|PMID:19167409|PMID:19251209|PMID:19412328|PMID:19716085|PMID:19762097|PMID:19841300|PMID:19863579|PMID:20031634|PMID:20090423|PMID:20129283|PMID:20458009|PMID:20539757|PMID:21167004|PMID:21273195|PMID:21483645|PMID:21596231|PMID:22129298|PMID:22277643|PMID:22337857|PMID:22360817|PMID:22710484|PMID:22766342|PMID:22789973|PMID:22795782|PMID:22999724|PMID:23631430|PMID:23805106|PMID:24033266|PMID:24218437|PMID:24613995|PMID:24631775|PMID:24815523|PMID:25210054|PMID:25348405|PMID:25585270|PMID:25624448|PMID:25741286|PMID:25741868|PMID:25904541|PMID:26164358|PMID:26283144|PMID:26633542|PMID:26798387|PMID:26921764|PMID:27287068|PMID:27566755|PMID:28150151|PMID:28341781|PMID:28370132|PMID:28412158|PMID:28491738|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29247119|PMID:29325976|PMID:29544605|PMID:29728395|PMID:29798782|PMID:29806494|PMID:29871609|PMID:30059973|PMID:30116708|PMID:30143662|PMID:30193851|PMID:30203441|PMID:30662450|PMID:31032819|PMID:31125670|PMID:31130284|PMID:31371804|PMID:31447099|PMID:31737537|PMID:32091595|PMID:32153684|PMID:32449611|PMID:32848785|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33874732|PMID:33959699|PMID:34076677|PMID:34147702|PMID:34930020|PMID:36007526|PMID:36129056|PMID:36516610|PMID:37745129|PMID:8541846|PMID:8620612|PMID:8917568|PMID:9495298|PMID:9506831
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular Tachycardia | ClinVar Annotator: match by term: Ventricular tachycardia	PMID:16199547|PMID:19356768|PMID:19632629|PMID:20129283|PMID:20345624|PMID:20381179|PMID:22789973|PMID:23503384|PMID:25741868|PMID:25904541|PMID:28341781|PMID:28492532|PMID:29247119|PMID:29759671|PMID:31918855|PMID:32298319|PMID:32893267|PMID:33164571|PMID:35052356|PMID:36091819|PMID:37061847|PMID:37547970|PMID:38352122|PMID:39931825|PMID:40697204|PMID:41596527
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9005444	Torsades de Pointes		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Torsades de pointes	PMID:17161064|PMID:25741868|PMID:28492532|PMID:30079003|PMID:34930020
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:15840476|PMID:19412328|PMID:19694019|PMID:19841300|PMID:20129283|PMID:20301690|PMID:22337857|PMID:22789973|PMID:22840528|PMID:23631430|PMID:24033266|PMID:24613995|PMID:24631775|PMID:25585270|PMID:25741868|PMID:25904541|PMID:26633542|PMID:27287068|PMID:28150151|PMID:28370132|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29247119|PMID:29728395|PMID:29798782|PMID:29806494|PMID:30059973|PMID:30143662|PMID:30193851|PMID:30364184|PMID:31032819|PMID:31130284|PMID:31737537|PMID:32091595|PMID:32449611|PMID:33131149|PMID:33221895|PMID:36007526|PMID:36129056|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9006030	Infant Death		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Death in infancy	PMID:11901046|PMID:14753626|PMID:18708744|PMID:19716085|PMID:20129283|PMID:21167176|PMID:22378279|PMID:22426227|PMID:22840528|PMID:22984773|PMID:23805106|PMID:24033266|PMID:24055113|PMID:24631775|PMID:24721456|PMID:24892747|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26159999|PMID:26332594|PMID:26467025|PMID:26538325|PMID:26746457|PMID:27435932|PMID:28492532|PMID:28794082|PMID:28988457|PMID:29728395|PMID:30153324|PMID:30847666|PMID:34021086
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9006065	Arthralgia		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Arthralgia	PMID:17905336|PMID:20137763|PMID:21908450|PMID:25741868|PMID:25904541|PMID:27930701|PMID:28412158|PMID:28492532|PMID:30828412|PMID:32746448|PMID:32893267|PMID:35113648|PMID:36964972|PMID:37652022
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9006508	Cardiac Conduction Defect, Nonprogressive		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE	PMID:11234013|PMID:19251209
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9006617	Fatigue		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Fatigue	PMID:15840476|PMID:19412328|PMID:19841300|PMID:20129283|PMID:22337857|PMID:23631430|PMID:24033266|PMID:24613995|PMID:25585270|PMID:25741868|PMID:25904541|PMID:26633542|PMID:28150151|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29728395|PMID:30143662|PMID:30193851|PMID:31032819|PMID:31737537|PMID:32091595|PMID:33131149
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death | ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:10532948|PMID:10618304|PMID:10662748|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15466642|PMID:15485686|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15910881|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17605181|PMID:17897635|PMID:17905336|PMID:18048769|PMID:18071069|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19716085|PMID:19808477|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20038812|PMID:20102864|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20384651|PMID:20403459|PMID:20448214|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23998552|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24529773|PMID:24573164|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25410959|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25856671|PMID:25904541|PMID:26131924|PMID:26159999|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27041096|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27681629|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087622|PMID:28150151|PMID:28265756|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28412158|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30530868|PMID:30662450|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31410243|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32091595|PMID:32161207|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007	sudden infant death syndrome		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SUDDEN INFANT DEATH SYNDROME | ClinVar Annotator: match by term: Sudden Infant Death | ClinVar Annotator: match by term: Sudden infant death syndrome	PMID:32600061|PMID:32746448|PMID:32826072|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33500567|PMID:33552729|PMID:33797273|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36303204|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007	sudden infant death syndrome	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007001	Bradycardia		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:16199547|PMID:20129283|PMID:22789973|PMID:25741868|PMID:28492532|PMID:36091819
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007288	Left Ventricular Noncompaction 1		ISO	RGD:731255	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 1	PMID:25741868
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Multiple congenital anomalies	PMID:10471492|PMID:10940383|PMID:11710892|PMID:12736279|PMID:14523039|PMID:15655131|PMID:15840476|PMID:16453024|PMID:16684018|PMID:17210839|PMID:18378609|PMID:19251209|PMID:20100972|PMID:20129283|PMID:22766342|PMID:22840528|PMID:22999724|PMID:25274057|PMID:9753711
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007661	Dwarfism		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007736	Vertigo		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:11535573|PMID:12566525|PMID:16039271|PMID:19841300|PMID:21185501|PMID:28492532
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007820	Sudden Death		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death | ClinVar Annotator: match by term: sudden unexplained death	PMID:19167345|PMID:19716085|PMID:20129283|PMID:23174487|PMID:23631430|PMID:23840796|PMID:23861362|PMID:25741868|PMID:25904541|PMID:28492532|PMID:29798782|PMID:29806494|PMID:32533946|PMID:32893267|PMID:33712541|PMID:36578016|PMID:38489124
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007820	Sudden Death		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:20129283|PMID:25741868|PMID:28492532|PMID:29798782|PMID:32533946|PMID:36578016
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9007925	Sudden Cardiac Death		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sudden cardiac arrest | ClinVar Annotator: match by term: Sudden cardiac death	PMID:14985827|PMID:16712702|PMID:18508782|PMID:19167345|PMID:19564561|PMID:19841300|PMID:19862833|PMID:20102864|PMID:20129283|PMID:22984773|PMID:23085483|PMID:23631430|PMID:23671135|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:25904541|PMID:26173111|PMID:26746457|PMID:26798387|PMID:27000522|PMID:27108952|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30203441|PMID:30232268|PMID:30254039|PMID:30662450|PMID:31696929|PMID:32268277|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33131149|PMID:33221895|PMID:33906374|PMID:34546463|PMID:34620408|PMID:34649698|PMID:36578016|PMID:36973604
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008021	Familial Atrial Fibrillation 10		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, FAMILIAL, 10 | ClinVar Annotator: match by term: Atrial fibrillation, familial, 10	PMID:10532948|PMID:10618304|PMID:10662748|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11150514|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17210839|PMID:17331104|PMID:17605181|PMID:17897635|PMID:17905336|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19606473|PMID:19716085|PMID:19808477|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20102920|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20395683|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22581653|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23200271|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23571586|PMID:23631430|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24529773|PMID:24573164|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26304620|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27711072|PMID:27810048|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28265756|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29202755|PMID:29247119|PMID:29396561|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30662450|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32091595|PMID:32233023|PMID:32268277
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008021	Familial Atrial Fibrillation 10		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ATRIAL FIBRILLATION, FAMILIAL, 10 | ClinVar Annotator: match by term: Atrial fibrillation, familial, 10	PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33500567|PMID:33552729|PMID:33797273|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9686753|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008021	Familial Atrial Fibrillation 10	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731255	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:15840476|PMID:19412328|PMID:19841300|PMID:20129283|PMID:22337857|PMID:23631430|PMID:24033266|PMID:24613995|PMID:25585270|PMID:25741868|PMID:25904541|PMID:26633542|PMID:28150151|PMID:28492532|PMID:28600387|PMID:28807990|PMID:29728395|PMID:30143662|PMID:30193851|PMID:31032819|PMID:31737537|PMID:32091595|PMID:33131149
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008112	Ventricular Fibrillation, Paroxysmal Familial, 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17081365|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17438610|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19056759|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20877689|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087622|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28412158|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609|PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008112	Ventricular Fibrillation, Paroxysmal Familial, 1		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation, paroxysmal familial, type 1	PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30371277|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30690642|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31397097|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33500567|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35352813|PMID:35397174|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36303204|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37351150|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9008112	Ventricular Fibrillation, Paroxysmal Familial, 1	susceptibility	ISO	RGD:731255	D	RGD:7240710	20260805	OMIM			
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9009094	Progressive Familial Heart Block Type I		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1	PMID:10508990|PMID:10532948|PMID:10618304|PMID:10662748|PMID:10961955|PMID:10973849|PMID:11013131|PMID:11029409|PMID:11076825|PMID:11123251|PMID:11222472|PMID:11562792|PMID:11710892|PMID:11748104|PMID:11786529|PMID:11804990|PMID:11823453|PMID:11827685|PMID:11901046|PMID:11960580|PMID:11997281|PMID:12106943|PMID:12354768|PMID:12574143|PMID:12639704|PMID:12673799|PMID:12820704|PMID:1452303|PMID:14523039|PMID:14687250|PMID:14760488|PMID:14985827|PMID:14998624|PMID:15023552|PMID:15028074|PMID:15121794|PMID:15338453|PMID:15466642|PMID:15520322|PMID:15671429|PMID:15689442|PMID:15840476|PMID:15840483|PMID:15851227|PMID:15851440|PMID:15992732|PMID:15996170|PMID:16155735|PMID:16199547|PMID:16325048|PMID:16344400|PMID:16379539|PMID:16414944|PMID:16453024|PMID:16540748|PMID:16568155|PMID:16707561|PMID:16712702|PMID:16922724|PMID:17161064|PMID:17210839|PMID:17210841|PMID:17331104|PMID:17576681|PMID:17605181|PMID:17675083|PMID:17897635|PMID:17905336|PMID:17993325|PMID:18048769|PMID:18071069|PMID:18088563|PMID:18245395|PMID:18304999|PMID:18361072|PMID:18378609|PMID:18426444|PMID:18452873|PMID:18503232|PMID:18596570|PMID:18752142|PMID:18752973|PMID:18976777|PMID:19026623|PMID:19027780|PMID:19167345|PMID:19251209|PMID:19412328|PMID:19597050|PMID:19606473|PMID:19666841|PMID:19716085|PMID:19808477|PMID:19841298|PMID:19841300|PMID:19862833|PMID:20031634|PMID:20102864|PMID:20123697|PMID:20129283|PMID:20137763|PMID:20301690|PMID:20395683|PMID:20403459|PMID:20458009|PMID:20539757|PMID:20875080|PMID:20981092|PMID:21051419|PMID:2107088|PMID:21070882|PMID:21109022|PMID:21126620|PMID:21143119|PMID:21167004|PMID:21185501|PMID:21273195|PMID:21321465|PMID:21410720|PMID:21483645|PMID:21596231|PMID:21840964|PMID:21908450|PMID:22277643|PMID:22331908|PMID:22337857|PMID:22360817|PMID:22373669|PMID:22378279|PMID:22407026|PMID:22519808|PMID:22557970|PMID:22581653|PMID:22677073|PMID:22682427|PMID:22685113|PMID:22710484|PMID:22739120|PMID:22766342|PMID:22789973|PMID:22840528|PMID:22885917|PMID:22899775|PMID:22956155|PMID:22984773|PMID:22995991|PMID:22999724|PMID:23008441|PMID:23098067|PMID:23168001|PMID:23174487|PMID:23321620|PMID:23414114|PMID:23420830|PMID:23424222|PMID:23465283|PMID:23503384|PMID:23571586|PMID:23631430|PMID:23714088|PMID:23785128|PMID:23805106|PMID:23853484|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24136861|PMID:24144883|PMID:24190697|PMID:24363352|PMID:24529773|PMID:24573164|PMID:24606995|PMID:24613995|PMID:24631775|PMID:24653702|PMID:24721456|PMID:24768612|PMID:24784157|PMID:24815523|PMID:25051102|PMID:25210054|PMID:25261036|PMID:25326637|PMID:25410959|PMID:25467552|PMID:25585270|PMID:25624448|PMID:25637381|PMID:25650408|PMID:25741286|PMID:25741868|PMID:25829473|PMID:25904541|PMID:25923670|PMID:26129877|PMID:26131924|PMID:26159999|PMID:26173111|PMID:26187847|PMID:26209461|PMID:26213684|PMID:26220391|PMID:26332594|PMID:26412604|PMID:26467025|PMID:26538325|PMID:26633542|PMID:26669661|PMID:26680202|PMID:26746457|PMID:26749013|PMID:26798387|PMID:27000522|PMID:27026747|PMID:27153395|PMID:27207958|PMID:27287068|PMID:27485560|PMID:27554632|PMID:27566755|PMID:27635072|PMID:27707468|PMID:27711072|PMID:27810048|PMID:27871843|PMID:27930701|PMID:28069705|PMID:28074886|PMID:28086167|PMID:28087566|PMID:28087622|PMID:28104484|PMID:28150151|PMID:28202948|PMID:28265756|PMID:28301460|PMID:28323875|PMID:28341588|PMID:28341781|PMID:28344931|PMID:28412158|PMID:28431631|PMID:28449774|PMID:28472724|PMID:28491758|PMID:28492532|PMID:28493952|PMID:28494446|PMID:28498465|PMID:28600387|PMID:28606196|PMID:28611029|PMID:28638671|PMID:28779003|PMID:28781330|PMID:28807990|PMID:28831623|PMID:28878402|PMID:28988457|PMID:28991257|PMID:29032884|PMID:29062695|PMID:29121719|PMID:29132927|PMID:29167113|PMID:29192238|PMID:29202755|PMID:29247119|PMID:29306897|PMID:29349559|PMID:29396561|PMID:29447731|PMID:29449639|PMID:29517769|PMID:29544605|PMID:29574140|PMID:29672598|PMID:29709244|PMID:29728395|PMID:29773157|PMID:29798782|PMID:29806494|PMID:29871609
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9009094	Progressive Familial Heart Block Type I		ISO	RGD:731255	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I | ClinVar Annotator: match by term: Heart block progressive familial type 1	PMID:29892087|PMID:29895855|PMID:29997009|PMID:30050137|PMID:30059973|PMID:30079003|PMID:30086531|PMID:30116708|PMID:30122538|PMID:30143662|PMID:30146492|PMID:30165862|PMID:30193851|PMID:30203441|PMID:30279931|PMID:30364184|PMID:30369311|PMID:30419068|PMID:30476647|PMID:30532816|PMID:30662450|PMID:30828412|PMID:30847666|PMID:31032819|PMID:31043699|PMID:31125670|PMID:31447099|PMID:31470130|PMID:31696929|PMID:31737537|PMID:31865383|PMID:31983221|PMID:32009526|PMID:32048431|PMID:32091595|PMID:32233023|PMID:32268277|PMID:32449611|PMID:32533187|PMID:32533946|PMID:32600061|PMID:32746448|PMID:32826072|PMID:32880476|PMID:32893267|PMID:32917565|PMID:33029862|PMID:33057194|PMID:33071830|PMID:33131149|PMID:33221895|PMID:33535892|PMID:33552729|PMID:33797273|PMID:33906374|PMID:33919104|PMID:33959699|PMID:34019817|PMID:34034907|PMID:34076677|PMID:34122134|PMID:34135346|PMID:34147702|PMID:34219138|PMID:34298581|PMID:34317510|PMID:34348284|PMID:34426522|PMID:34461752|PMID:34555931|PMID:34649698|PMID:34678660|PMID:34843967|PMID:34930020|PMID:35052356|PMID:35063694|PMID:35113648|PMID:35124229|PMID:35284542|PMID:35305865|PMID:35397174|PMID:35701104|PMID:35932045|PMID:35947370|PMID:36129056|PMID:36147716|PMID:36303204|PMID:36305856|PMID:36352534|PMID:36516610|PMID:36578016|PMID:36788754|PMID:36881552|PMID:36964972|PMID:36973604|PMID:37061847|PMID:37432518|PMID:37461109|PMID:37614113|PMID:37652022|PMID:37745129|PMID:37937776|PMID:38003592|PMID:38036776|PMID:38068978|PMID:38241367|PMID:38473809|PMID:38504463|PMID:38539105|PMID:39073097|PMID:39119706|PMID:39714775|PMID:40800556|PMID:9521325|PMID:9536098|PMID:9716085
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:19694019|PMID:20129283|PMID:20301690|PMID:22789973|PMID:22840528|PMID:25741868|PMID:28492532|PMID:29798782|PMID:29806494|PMID:30364184|PMID:36516610
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:731255	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:936	brain disease		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:12106943|PMID:15910881|PMID:19251209|PMID:20031634|PMID:20129283|PMID:20384651|PMID:20448214|PMID:20539757|PMID:21273195|PMID:23414114|PMID:25741868|PMID:28492532|PMID:29574140|PMID:29798782|PMID:30847666|PMID:32268277|PMID:32893267|PMID:33221895
12161976	SCN5A	sodium voltage-gated channel alpha subunit 5	gene	DOID:9970	obesity		ISO	RGD:731255	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:20129283|PMID:24136861|PMID:25741868|PMID:28074886|PMID:28492532|PMID:29540472|PMID:30086531|PMID:31737537|PMID:32533946|PMID:32880476|PMID:32893267|PMID:33221895|PMID:33996946|PMID:36011376|PMID:36516610|PMID:36724992|PMID:38731905
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0040083	Chlamydia pneumonia		ISO	RGD:10996	D	RGD:9068941	20251108	RGD		mRNA:increased expression:lung	PMID:31249813|REF_RGD_ID:39938856
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0050152	aspiration pneumonia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15607125
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0050426	Stevens-Johnson syndrome		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10620138
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:colon (rat)	PMID:21958875|REF_RGD_ID:5508753
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with obesity; protein:increased expression:sputum	PMID:18098375|REF_RGD_ID:4891935
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased phosphorylation:endothelial cell	PMID:18413499|REF_RGD_ID:4891909
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0051061	stroke		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:21171972|REF_RGD_ID:4891154
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0051061	stroke		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20083630
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060001	withdrawal disorder		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19751225
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:730951	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060180	colitis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon (mouse)	PMID:21930116|REF_RGD_ID:5509045
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060180	colitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:colon	PMID:16866779|REF_RGD_ID:4891411
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060180	colitis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17449036|PMID:8698225
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060496	respiratory allergy		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:19800904|REF_RGD_ID:4891497
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0060496	respiratory allergy	treatment	ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:21983654|REF_RGD_ID:8549812
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0080178	mucositis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:jejunum (rat)	PMID:21846355|REF_RGD_ID:5509078
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver (mouse)	PMID:21948338|REF_RGD_ID:5509578
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0080784	urinary tract infection		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9011564
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased enzyme activity:pancreas	PMID:15257108|REF_RGD_ID:2325241
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28642177
12162018	NOS2	nitric oxide synthase 2	gene	DOID:0111579	asthma, nasal polyps, and aspirin intolerance		ISO	RGD:730951	D	RGD:9068941	20251211	RGD		protein:increased expression:nasal cavity mucosa	PMID:12030579|REF_RGD_ID:629118416
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10112	sleeping sickness		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:altered activity:brain, peritoneal macrophage	PMID:20169057|REF_RGD_ID:4891375
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10247	pleurisy		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:20141620|REF_RGD_ID:4142808
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10247	pleurisy		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:pleural cavity (rat)	PMID:21898269|REF_RGD_ID:7175307
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10320	asbestosis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:12160931|REF_RGD_ID:4891441
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10320	asbestosis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung	PMID:12051993|REF_RGD_ID:4891438
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10320	asbestosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12160931
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10325	silicosis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:15205031|REF_RGD_ID:4891445
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10325	silicosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15292275
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10534	stomach cancer		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:16908860|REF_RGD_ID:5508721
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:21163295|REF_RGD_ID:4891161
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730951	D	RGD:9068941	20200609	RGD			PMID:12384247|REF_RGD_ID:13824978
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1073	renal hypertension		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:20360752|REF_RGD_ID:4891374
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10754	otitis media		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Haemophilus Infections; mRNA, protein:increased expression:middle ear	PMID:18524391|REF_RGD_ID:4891398
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10763	hypertension		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:kidney	PMID:15773227|REF_RGD_ID:1580264
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10763	hypertension		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18605955|PMID:25101153|PMID:27292124
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12481160|PMID:15138204|PMID:19066340
12162018	NOS2	nitric oxide synthase 2	gene	DOID:10825	essential hypertension		ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:insertion, repeat:promoter	PMID:11702222|REF_RGD_ID:1298023
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11044	gastroschisis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine (rat)	PMID:21960425|REF_RGD_ID:5508749
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11049	meconium aspiration syndrome		ISO	RGD:3185	D	RGD:9068941	20251204	RGD		mRNA:increased expression:lung	PMID:12621123|REF_RGD_ID:629096378
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1115	sarcoma		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11339	pneumocystosis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:alveolar macrophage	PMID:20377877|REF_RGD_ID:4144112
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11339	pneumocystosis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:decreased dimerization:alveolar macrophage	PMID:20558778|REF_RGD_ID:4891486
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11396	pulmonary edema		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:alveolus	PMID:16256382|REF_RGD_ID:4891463
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11396	pulmonary edema		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:14767587|REF_RGD_ID:5132626
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11713	diabetic angiopathy		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19587355|REF_RGD_ID:2313210
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11713	diabetic angiopathy		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental; protein:increased expression:cochlea	PMID:19241604|REF_RGD_ID:4891384
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1176	bronchial disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15774269
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1176	bronchial disease	treatment	ISO	RGD:3185	D	RGD:9068941	20260730	RGD			PMID:36152413|REF_RGD_ID:736802360
12162018	NOS2	nitric oxide synthase 2	gene	DOID:11832	visual epilepsy		ISO	RGD:730951	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:19559095
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1205	allergic disease		ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:SNPs, repeat:promoter: -1659C>T, -277A>G	PMID:17177683|REF_RGD_ID:4891925
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1205	allergic disease		ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:repeat:promoter	PMID:11692109|REF_RGD_ID:629006645
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1205	allergic disease	no_association	ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:VNTR:promoter	PMID:10673365|REF_RGD_ID:5132869
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12217	Lewy body dementia		ISO	RGD:730951	D	RGD:9068941	20200609	RGD			PMID:10674474|REF_RGD_ID:1358529
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:brain (rat)	PMID:21903766|REF_RGD_ID:5509055
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12365	malaria		ISO	RGD:730951	D	RGD:7240710	20230505	OMIM			
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12365	malaria		ISO	RGD:730951	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MALARIA, RESISTANCE TO | ClinVar Annotator: match by term: MALARIA, SEVERE, RESISTANCE TO | ClinVar Annotator: match by term: NOS2-related condition	PMID:25741868|PMID:28492532
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1273	respiratory syncytial virus infectious disease	treatment	ISO	RGD:3185	D	RGD:9068941	20251108	RGD			PMID:39606255|REF_RGD_ID:629006629
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12849	autistic disorder		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563708
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730951	D	RGD:9068941	20230729	RGD		mRNA:increased expression:endocardium	PMID:15698596|REF_RGD_ID:329970287
12162018	NOS2	nitric oxide synthase 2	gene	DOID:12930	dilated cardiomyopathy	severity	ISO	RGD:730951	D	RGD:9068941	20251113	RGD			PMID:12123766|REF_RGD_ID:629006647
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:23204802|REF_RGD_ID:7257667
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1307	dementia		ISO	RGD:730951	D	RGD:9068941	20200609	RGD			PMID:10674474|REF_RGD_ID:1358529
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16191423
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13141	uveitis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:eye (mouse)	PMID:21911582|REF_RGD_ID:5509582
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1324	lung cancer		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:VNTR:promoter	PMID:24408018|REF_RGD_ID:629096375
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11789718|REF_RGD_ID:4891449
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:19763802|REF_RGD_ID:5132590
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13548	secondary Parkinson disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25634431
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13580	cholestasis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612912|PMID:20626112
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12162018	NOS2	nitric oxide synthase 2	gene	DOID:13949	interstitial cystitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:bladder	PMID:21179332|REF_RGD_ID:4891153
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1407	anterior uveitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:eye (rat)	PMID:21976127|REF_RGD_ID:5508734
12162018	NOS2	nitric oxide synthase 2	gene	DOID:14115	toxic shock syndrome		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:16601845|REF_RGD_ID:1580268
12162018	NOS2	nitric oxide synthase 2	gene	DOID:14115	toxic shock syndrome		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8745224
12162018	NOS2	nitric oxide synthase 2	gene	DOID:14268	sclerosing cholangitis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12612912
12162018	NOS2	nitric oxide synthase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12162018	NOS2	nitric oxide synthase 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:striatum (mouse)	PMID:21970803|REF_RGD_ID:5509573
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1459	hypothyroidism		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA, protein:altered expression:cerebral cortex	PMID:21196918|REF_RGD_ID:4891143
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1485	cystic fibrosis		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:respiratory mucosa	PMID:16517573|REF_RGD_ID:4891958
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1724	duodenal ulcer		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12481160|PMID:17045617
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:15165031|REF_RGD_ID:2325248
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1793	pancreatic cancer	disease_progression	ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:11196200|PMID:11687972|REF_RGD_ID:2325257|REF_RGD_ID:2325262
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1824	status epilepticus		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20149694
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1875	impotence		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental;protein:increased expression:penis	PMID:19554009|REF_RGD_ID:2313212
12162018	NOS2	nitric oxide synthase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20720404
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2237	hepatitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:21913985|REF_RGD_ID:6906896
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2316	brain ischemia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17394460|PMID:9778187
12162018	NOS2	nitric oxide synthase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730951	D	RGD:9068941	20220826	RGD		protein:increased expression:colon (human)	PMID:22419013|REF_RGD_ID:153344572
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2508	Takayasu's arteritis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with lung transplantation; protein:increased expression:lung	PMID:11112135|REF_RGD_ID:4892082
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:16540403|REF_RGD_ID:4891957
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:lung (rat)	PMID:21847581|REF_RGD_ID:5509073
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19800904
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:repeats:promoter	PMID:18714530|REF_RGD_ID:4891508
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Rhinitis, Allergic, Seasonal; protein:increased expression:nasal mucosa	PMID:18254476|REF_RGD_ID:4891910
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:monocyte	PMID:20842520|REF_RGD_ID:4891419
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20251108	RGD		mRNA:increased expression:lung	PMID:30186379|REF_RGD_ID:629006628
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:SNPs,haplotype: :multiple	PMID:19996333|REF_RGD_ID:629096374
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		protein:increased expression:lower lobe of lung	PMID:11028658|REF_RGD_ID:629096383
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	disease_progression	ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, bronchoalveolar lavage fluid	PMID:17161822|REF_RGD_ID:4891927
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	no_association	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:repeat:promoter	PMID:16703578|REF_RGD_ID:4891953
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	no_association	ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:SNPs: :multiple	PMID:17177683|REF_RGD_ID:4891925
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	no_association	ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:VNTR:promoter	PMID:10673365|REF_RGD_ID:5132869
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	severity	ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:20841959|REF_RGD_ID:4891480
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	severity	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:repeats:promoter, introns (human)	PMID:17189532|REF_RGD_ID:4891924
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2841	asthma	susceptibility	ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:SNPs, haplotype	PMID:17177683|REF_RGD_ID:4891925
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1349807	D	RGD:9068941	20251113	RGD		DNA:SNPs:intron, 3' utr:multiple	PMID:19575238|REF_RGD_ID:4144122
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		mRNA, protein:increased expression:blood, serum	PMID:39046034|REF_RGD_ID:629096372
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:737013	D	RGD:9068941	20251113	RGD		DNA:SNPs:intron, 3' utr:  rs2248814, rs2274894, rs7215373	PMID:19575238|REF_RGD_ID:4144122
12162018	NOS2	nitric oxide synthase 2	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:SNPs:promoter, intron, 3' utr:multiple	PMID:19575238|REF_RGD_ID:4144122
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3021	acute kidney failure		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9810145
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3082	interstitial lung disease		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11789718|REF_RGD_ID:4891449
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21843929
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:12797490|REF_RGD_ID:4891444
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3275	thymoma		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:spinal cord (mouse)	PMID:21867702|REF_RGD_ID:5509065
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3393	coronary artery disease		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Mucocutaneous Lymph Node Syndrome; protein:increased expression:neutrophil, monocyte	PMID:14764920|REF_RGD_ID:1580941
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3393	coronary artery disease	no_association	ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:repeat, indel:promoter	PMID:15843225|REF_RGD_ID:629107236
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3393	coronary artery disease	severity	ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:repeat:promoter	PMID:14636285|REF_RGD_ID:629006648
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3491	Turner syndrome		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25101153
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (mouse)	PMID:22020035|REF_RGD_ID:5509037
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (rat)	PMID:21959178|REF_RGD_ID:5508751
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:12660813|REF_RGD_ID:2325254
12162018	NOS2	nitric oxide synthase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:20668217|REF_RGD_ID:4891482
12162018	NOS2	nitric oxide synthase 2	gene	DOID:409	liver disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19784758
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:10996	D	RGD:9068941	20251213	RGD		protein:increased expression:nasal cavity mucosa	PMID:14587983|REF_RGD_ID:4892078
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4481	allergic rhinitis		ISO	RGD:730951	D	RGD:9068941	20251113	RGD		mRNA:increased expression:nasal cavity mucosa, macrophage	PMID:12778764|REF_RGD_ID:629006644
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4481	allergic rhinitis	treatment	ISO	RGD:10996	D	RGD:9068941	20251113	RGD			PMID:26489077|REF_RGD_ID:629006639
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4483	rhinitis		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa	PMID:18254476|REF_RGD_ID:4891910
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4676	uremia		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney (rat)	PMID:21957179|REF_RGD_ID:5508758
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4724	brain edema		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19374494
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:21894146|REF_RGD_ID:6218988
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16818635
12162018	NOS2	nitric oxide synthase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:16094703|REF_RGD_ID:2325280
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5199	ureteral obstruction		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26207612
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5295	intestinal disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11713966
12162018	NOS2	nitric oxide synthase 2	gene	DOID:552	pneumonia	treatment	ISO	RGD:3185	D	RGD:9068941	20260730	RGD			PMID:24790141|REF_RGD_ID:736802361
12162018	NOS2	nitric oxide synthase 2	gene	DOID:557	kidney disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18441258
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5679	retinal disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23075401
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:3185	D	RGD:9068941	20251113	RGD			PMID:11399901|REF_RGD_ID:629006640
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:3185	D	RGD:9068941	20251113	RGD		protein:increased expression:myocardium	PMID:15221344|REF_RGD_ID:629006631
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10090345|PMID:11489778
12162018	NOS2	nitric oxide synthase 2	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:3185	D	RGD:9068941	20230729	RGD			PMID:26192027|REF_RGD_ID:329970290
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:3185	D	RGD:9068941	20251204	RGD		associated with Cardiomegaly;protein:increased expression:cardiac ventricle	PMID:11790707|REF_RGD_ID:629096381
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19168511
12162018	NOS2	nitric oxide synthase 2	gene	DOID:607	paraplegia		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:Lumbar segment of spinal cord, bone marrow-derived macrophage (rat)	PMID:21959174|REF_RGD_ID:5509577
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		associated with Anoxia; mouse gene in rat model	PMID:11104748|REF_RGD_ID:4891468
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Congenital diaphragmatic hernia; protein:decreased expression:pulmonary artery, endothelium	PMID:16456243|REF_RGD_ID:1580940
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic; DNA:repeats, SNPs:promoter:(CCTTT), c.-1026C>T, c.-277A>G (human)	PMID:16813666|REF_RGD_ID:4891462
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6432	pulmonary hypertension		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with heart disease; protein:increased expression:endothelial cell	PMID:19912632|REF_RGD_ID:5132602
12162018	NOS2	nitric oxide synthase 2	gene	DOID:6432	pulmonary hypertension	onset	ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Anoxia; protein:increased expression:pulmonary artery	PMID:16113050|REF_RGD_ID:1580936
12162018	NOS2	nitric oxide synthase 2	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:3185	D	RGD:9068941	20220520	RGD			PMID:25999787|REF_RGD_ID:152177911
12162018	NOS2	nitric oxide synthase 2	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16157314
12162018	NOS2	nitric oxide synthase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:aorta tunica media	PMID:15800493|REF_RGD_ID:1580261
12162018	NOS2	nitric oxide synthase 2	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:11789718|REF_RGD_ID:4891449
12162018	NOS2	nitric oxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		lung injury associated with hyperoxia	PMID:20497690|REF_RGD_ID:4891426
12162018	NOS2	nitric oxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		acute lung injury associated with endotoxemia	PMID:17324147|REF_RGD_ID:4891465
12162018	NOS2	nitric oxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Granuloma; protein:increased expression:lung	PMID:8952535|REF_RGD_ID:4891457
12162018	NOS2	nitric oxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Hypertension, Portal; mRNA,protein:increased expression:lung	PMID:11258566|REF_RGD_ID:4891454
12162018	NOS2	nitric oxide synthase 2	gene	DOID:850	lung disease		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		lung injury associated with Pancreatitis, Acute Necrotizing; mRNA:increased expression:lung	PMID:20144956|REF_RGD_ID:4891432
12162018	NOS2	nitric oxide synthase 2	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17923197
12162018	NOS2	nitric oxide synthase 2	gene	DOID:8680	alcoholic gastritis	treatment	ISO	RGD:3185	D	RGD:9068941	20250424	RGD			PMID:24972622|REF_RGD_ID:10401897
12162018	NOS2	nitric oxide synthase 2	gene	DOID:8893	psoriasis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953189
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Gallbladder Diseases; protein:decreased expression:gllbladder	PMID:14704000|REF_RGD_ID:2325251
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000011	Gallbladder Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:14991947|REF_RGD_ID:2325250
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:altered expression:thoracic aorta	PMID:17287083|REF_RGD_ID:4891407
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000117	Esophageal Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15264214
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000169	Systemic Inflammatory Response Syndrome		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:ileum, liver (rat)	PMID:21975127|REF_RGD_ID:5508740
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000197	Edema		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased activity:serum (rat)	PMID:22019508|REF_RGD_ID:5509038
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000304	Manganese Poisoning		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15010209|PMID:22174044
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000326	Thrombotic Microangiopathies		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:Increased expression:kidney:neutrophil, endothelial cell, kidney:	PMID:10908153|REF_RGD_ID:11533936
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brainstem, basilar artery (mouse)	PMID:21915076|REF_RGD_ID:5509046
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17053178
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000528	Coronary Disease		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		protein:increased expression:blood serum	PMID:36937936|REF_RGD_ID:629096373
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Reperfusion Injury	PMID:17607157|REF_RGD_ID:4891947
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with reperfusion injury; mRNA:increased expression:lung	PMID:20430162|REF_RGD_ID:4891490
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000772	Bronchial Hyperreactivity		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, respiratory tract	PMID:11076311|REF_RGD_ID:4892083
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000945	Ventilator-Induced Lung Injury		ISO	RGD:3185	D	RGD:9068941	20251204	RGD			PMID:12562562|REF_RGD_ID:729253
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Pancreatic Ductal	PMID:12660813|REF_RGD_ID:2325254
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Pancreatic Ductal; protein:increased expression:pancreas	PMID:15222037|REF_RGD_ID:2325242
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		associated with Gallbladder Neoplasms: protein:increased expression:gallbladder	PMID:14991947|REF_RGD_ID:2325250
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9000998	Brain Injuries		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:11526986|REF_RGD_ID:10395358
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:repeats:promoter	PMID:18714530|REF_RGD_ID:4891508
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal mucosa	PMID:20554417|REF_RGD_ID:5509597
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730951	D	RGD:9068941	20251213	RGD		mRNA:increased expression:nasal cavity mucosa	PMID:12762002|REF_RGD_ID:629118417
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:17030871|REF_RGD_ID:4891952
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:brain	PMID:18080188|REF_RGD_ID:4891937
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001488	Human Influenza		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:olfactory epithelium	PMID:17674769|REF_RGD_ID:4891919
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aorta	PMID:10353629|REF_RGD_ID:2325278
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:10784593|REF_RGD_ID:2325265
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18380797
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:10383909|REF_RGD_ID:2325277
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001708	Hemorrhagic Shock		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:multiple	PMID:15854664|REF_RGD_ID:1580937
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9001984	Fetal Diseases		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19283362|REF_RGD_ID:2313217
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:17056580|REF_RGD_ID:4891950
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:3185	D	RGD:9068941	20250424	RGD		associated with alcoholic hepatitis	PMID:22019745|REF_RGD_ID:598147059
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002211	Hyperalgesia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17989504|PMID:19300402
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with hyperinsulinemia; protein:increased expression:placenta	PMID:19709742|REF_RGD_ID:5132592
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002283	Experimental Allergic Asthma		ISO	RGD:730951	D	RGD:9068941	20251213	RGD		protein:increased expression:lung	PMID:19286931|REF_RGD_ID:5132864
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002371	Cardiotoxicity		ISO	RGD:10996	D	RGD:9068941	20251204	RGD		protein:increased expression:myocardium	PMID:10871338|REF_RGD_ID:629096377
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002395	Hypothermia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24675228
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:ankle joint (mouse)	PMID:21880869|REF_RGD_ID:5509060
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:12826065|REF_RGD_ID:1358527
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002467	Mycoplasma Infections		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20179380
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19587355
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:21857957|REF_RGD_ID:5509069
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9673227
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002884	Emphysema		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24465666
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16105666|PMID:21081470
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23694759
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:venule, arteriole, endothelium (mouse)	PMID:22019501|REF_RGD_ID:5509100
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:14599979|REF_RGD_ID:1580938
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:11592783|REF_RGD_ID:2325259
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10383581|PMID:19673871|PMID:23061969|PMID:23075401
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004250	Hepatic Insufficiency		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004422	Chagas Cardiomyopathy	treatment	ISO	RGD:10996	D	RGD:9068941	20251113	RGD			PMID:10072717|REF_RGD_ID:629006635
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004484	Sepsis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		associated with lung injury	PMID:21184738|REF_RGD_ID:4891414
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004484	Sepsis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:15665729|REF_RGD_ID:5147745
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004484	Sepsis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17138957|PMID:20035746
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased activity:liver (rat)	PMID:22001939|REF_RGD_ID:5509102
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10996	D	RGD:9068941	20251108	RGD		mRNA, protein:increased expression:lung	PMID:25870319|REF_RGD_ID:629006630
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10996	D	RGD:9068941	20251113	RGD		mRNA:increased expression:lung	PMID:12972406|REF_RGD_ID:629006646
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10996	D	RGD:9068941	20251204	RGD		protein:increased expression:lung	PMID:22844117|REF_RGD_ID:629096382
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:16882535|REF_RGD_ID:5147744
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3185	D	RGD:9068941	20251108	RGD		mRNA, protein:increased expression:lung	PMID:12773330|REF_RGD_ID:629006626
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3185	D	RGD:9068941	20251213	RGD		associated with endotoxic shock	PMID:9933740|REF_RGD_ID:629118419
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:3185	D	RGD:9068941	20260219	RGD			PMID:31693211|REF_RGD_ID:632522751
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12460898|PMID:22369883
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026087
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005372	Inflammation		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11289658|PMID:24465666
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		associated with Infarction, Middle Cerebral Artery; protein:increased expression:brain (rat)	PMID:21993016|REF_RGD_ID:5509105
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16380483|PMID:16959961
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005643	Experimental Diabetes Mellitus	no_association	ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomerulus (rat)	PMID:9349594|REF_RGD_ID:5509107
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005724	Fungal Lung Diseases		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung	PMID:10639453|REF_RGD_ID:4891455
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005749	Necrosis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10620138|PMID:10909967
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:20519137|REF_RGD_ID:5147779
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:intestine	PMID:16787348|REF_RGD_ID:4891470
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12620498
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:3185	D	RGD:9068941	20230727	RGD			PMID:18408363|REF_RGD_ID:11040540
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:nerve root, leukocyte, Schwann cell (rat)	PMID:15144861|REF_RGD_ID:1580265
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006741	Acute Hepatitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:21913985|REF_RGD_ID:6906896
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:SNP:cds:rs1060826	PMID:29253610|REF_RGD_ID:629096376
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs1060826(human)	PMID:17703412|REF_RGD_ID:4889847
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006956	nephrotoxicity	treatment	ISO	RGD:3185	D	RGD:9068941	20230622	RGD			PMID:37244046|REF_RGD_ID:329853759
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14700523
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007651	Chronic Bronchitis		ISO	RGD:3185	D	RGD:9068941	20200609	RGD			PMID:19938219|REF_RGD_ID:4891494
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:21846719|REF_RGD_ID:5509075
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:retroperitoneum, adipose tissue (rat)	PMID:22023455|REF_RGD_ID:5509041
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007730	Burns		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15650120
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:heart (rat)	PMID:21844074|REF_RGD_ID:5509098
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:12003803|PMID:12087064|PMID:14990356|PMID:19207477|PMID:20828608
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20953189
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (mouse)	PMID:21947361|REF_RGD_ID:5509580
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15631943
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9009039	Hyperemia		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12646421
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9009402	radiation-induced lung injury		ISO	RGD:730951	D	RGD:9068941	20251113	RGD		DNA:SNPs, haplotype: :multiple	PMID:24746566|REF_RGD_ID:629006636
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bone marrow macrophage (mouse)	PMID:22011580|REF_RGD_ID:5508848
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:730951	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9261	nasopharynx carcinoma		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:SNP:promoter:-277A>G (rs2779248)	PMID:25446398|REF_RGD_ID:629096371
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9261	nasopharynx carcinoma	no_association	ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:SNPs:promoter:-1026G>T (rs2779249), -1659C>T (rs8078340)	PMID:25446398|REF_RGD_ID:629096371
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (mouse)	PMID:21963495|REF_RGD_ID:5508747
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:retina	PMID:18773271|REF_RGD_ID:2313220
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16959961
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:730951	D	RGD:9068941	20200609	RGD		DNA:insertion/deletion, repeat:promoter (human)	PMID:19395279|REF_RGD_ID:2312484
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9415	allergic asthma		ISO	RGD:730951	D	RGD:9068941	20251204	RGD		DNA:SNP, haplotype:promoter, cds:-1659C>T (rs10459953), 608C>T (rs2297518)	PMID:34946286|REF_RGD_ID:629096380
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9498	pulmonary eosinophilia		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:18829681|REF_RGD_ID:4891506
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:22000010|REF_RGD_ID:5509103
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:lung	PMID:20956973|REF_RGD_ID:4891415
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:3185	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:20472710|REF_RGD_ID:4891488
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:18802679|REF_RGD_ID:2313218
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10996	D	RGD:9068941	20200609	RGD			PMID:19535454|REF_RGD_ID:2313214
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:10996	D	RGD:9068941	20240425	MouseDO		OMIM:222100	
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9767	myocardial stunning		ISO	RGD:730951	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11927517
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9970	obesity		ISO	RGD:10996	D	RGD:9068941	20200609	RGD		protein:increased expression:liver, gastrocnemius muscle, adipose tissue (mouse)	PMID:21896669|REF_RGD_ID:5509059
12162018	NOS2	nitric oxide synthase 2	gene	DOID:9970	obesity		ISO	RGD:730951	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:18098375|REF_RGD_ID:4891935
12162056	ZP4	zona pellucida glycoprotein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1345250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12162056	ZP4	zona pellucida glycoprotein 4	gene	DOID:10283	prostate cancer		ISO	RGD:1345250	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12162056	ZP4	zona pellucida glycoprotein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162056	ZP4	zona pellucida glycoprotein 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345250	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:1115	sarcoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162071	MOB3B	MOB kinase activator 3B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:1909	melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1344859	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:29379198
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:6039	uveal melanoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:670	amphetamine abuse		ISO	RGD:1344859	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316681
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1344859	D	RGD:9068941	20211008	CTD		CTD Direct Evidence: marker/mechanism	PMID:21743467
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344859	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162078	CCHCR1	coiled-coil alpha-helical rod protein 1	gene	DOID:986	alopecia areata		ISO	RGD:1617323	D	RGD:9068941	20220825	MouseDO		OMIM:104000 | OMIM:610753	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0060058	lymphoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0070277	primary autosomal recessive microcephaly 15		ISO	RGD:1606200	D	RGD:7240710	20180130	OMIM			
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:0070277	primary autosomal recessive microcephaly 15		ISO	RGD:1606200	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MFSD2A-related condition | ClinVar Annotator: match by term: Microcephaly 15, primary, autosomal recessive | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN IMAGING ABNORMALITIES	PMID:25741868|PMID:26005868|PMID:28492532
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:10534	stomach cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:1059	intellectual disability		ISO	RGD:1606200	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005865
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:10907	microcephaly		ISO	RGD:1606200	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:11383	cryptorchidism		ISO	RGD:1606200	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:1324	lung cancer		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:5041	esophageal cancer		ISO	RGD:1606200	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:630	genetic disease		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:28492532|PMID:9536098
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606200	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606200	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606200	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162120	MFSD2A	MFSD2 lysolipid transporter A, lysophospholipid	gene	DOID:92	speech disorder		ISO	RGD:1606200	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26005865
12162147	UBXN4	UBX domain protein 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:10534	stomach cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162147	UBXN4	UBX domain protein 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162147	UBXN4	UBX domain protein 4	gene	DOID:1115	sarcoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:1324	lung cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162147	UBXN4	UBX domain protein 4	gene	DOID:1909	melanoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:4362	cervical cancer		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162147	UBXN4	UBX domain protein 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1316650	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162147	UBXN4	UBX domain protein 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12162147	UBXN4	UBX domain protein 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316650	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162147	UBXN4	UBX domain protein 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316650	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0060892	late onset Parkinson's disease		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Parkinson disease, late-onset	PMID:15079038|PMID:19429166|PMID:24126627|PMID:25741868|PMID:31922365
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0080421	developmental and epileptic encephalopathy 11		ISO	RGD:732028	D	RGD:8554872	20240625	ClinVar		ClinVar Annotator: match by term: Complex neurodevelopmental disorder	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:0080855	Parkinsonism	treatment	ISO	RGD:3202	D	RGD:9068941	20210326	RGD			PMID:31408200|REF_RGD_ID:124713575
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:12849	autistic disorder		ISO	RGD:732028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:732028	D	RGD:9068941	20260604	RGD		DNA:insertion:intron:g.7048_7049insG (human)	PMID:11914402|REF_RGD_ID:1358553
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:14330	Parkinson's disease		ISO	RGD:736400	D	RGD:9068941	20260604	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:1826	epilepsy		ISO	RGD:732028	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:37	skin disease		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:4362	cervical cancer		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:5419	schizophrenia		ISO	RGD:736400	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:630	genetic disease		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:39334436
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:676	systemic juvenile rheumatoid arthritis		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9001878	Disorders of Environmental Origin		ISO	RGD:3202	D	RGD:9068941	20250717	RGD		associated with BBOP exposure; mRNA, protein:decreased expression:adrenal cortex	PMID:35762508|REF_RGD_ID:617212669
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:736400	D	RGD:9068941	20210326	RGD			PMID:25855987|REF_RGD_ID:11057198
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006288	INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM		ISO	RGD:732028	D	RGD:7240710	20221214	OMIM			
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006288	INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM		ISO	RGD:732028	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM | ClinVar Annotator: match by term: Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism | ClinVar Annotator: match by term: NR4A2-related condition	PMID:23066323|PMID:24614104|PMID:25326669|PMID:25741868|PMID:28492532|PMID:28544326|PMID:29758562|PMID:29770430|PMID:31428396|PMID:31922365|PMID:32366965|PMID:33585677|PMID:38440907|PMID:38791237
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:3202	D	RGD:9068941	20210326	RGD			PMID:28365874|REF_RGD_ID:124713570
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16835338
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008	psoriatic arthritis		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19732956
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:732028	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16293616
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008582	Developmental Disease		ISO	RGD:732028	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12162165	NR4A2	nuclear receptor subfamily 4 group A member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162188	ALPK3	alpha kinase 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162188	ALPK3	alpha kinase 3	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic Cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic cardiomyopathy	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:34263907
12162188	ALPK3	alpha kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21441111|PMID:25944380|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:32480058|PMID:33191771|PMID:34263907
12162188	ALPK3	alpha kinase 3	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:30847666|PMID:32480058|PMID:34263907|PMID:37477868
12162188	ALPK3	alpha kinase 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:0060319	cardiac arrest		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:25741868|PMID:28492532|PMID:30847666|PMID:32480058
12162188	ALPK3	alpha kinase 3	gene	DOID:0061102	hypertrophic cardiomyopathy 27		ISO	RGD:1344760	D	RGD:7240710	20190315	OMIM			
12162188	ALPK3	alpha kinase 3	gene	DOID:0061102	hypertrophic cardiomyopathy 27		ISO	RGD:1344760	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALPK3-related condition | ClinVar Annotator: match by term: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27 | ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic 27	PMID:16199547|PMID:17576681|PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:28991257|PMID:29661763|PMID:30046096|PMID:30192042|PMID:30513141|PMID:30847666|PMID:31074094|PMID:32442321|PMID:32480058|PMID:32746448|PMID:33076350|PMID:33191771|PMID:34263907|PMID:34526680|PMID:37477868|PMID:38356193|PMID:9536098
12162188	ALPK3	alpha kinase 3	gene	DOID:0110318	hypertrophic cardiomyopathy 12		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 12	
12162188	ALPK3	alpha kinase 3	gene	DOID:1115	sarcoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy | ClinVar Annotator: match by term: hypertrophic cardiomyopathy	PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:31880413|PMID:32480058|PMID:33076350|PMID:34263907|PMID:36321451|PMID:37477868|PMID:38356193
12162188	ALPK3	alpha kinase 3	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1344760	D	RGD:8554872	20250415	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868
12162188	ALPK3	alpha kinase 3	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1344760	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:1324	lung cancer		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:24033266|PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:1909	melanoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162188	ALPK3	alpha kinase 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162188	ALPK3	alpha kinase 3	gene	DOID:4362	cervical cancer		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162188	ALPK3	alpha kinase 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1344760	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:24033266|PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12162188	ALPK3	alpha kinase 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:21441111|PMID:24033266|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:34263907
12162188	ALPK3	alpha kinase 3	gene	DOID:6000	congestive heart failure		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congestive heart failure	PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:24033266|PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:24033266|PMID:25741868|PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular fibrillation	PMID:25741868|PMID:28492532|PMID:30847666|PMID:32480058
12162188	ALPK3	alpha kinase 3	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1344760	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
12162188	ALPK3	alpha kinase 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344760	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:21441111|PMID:25741868|PMID:26846950|PMID:27106955|PMID:28492532|PMID:28630369|PMID:29661763|PMID:32480058|PMID:34263907|PMID:37477868
12162188	ALPK3	alpha kinase 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162188	ALPK3	alpha kinase 3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344760	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:24033266|PMID:25741868|PMID:28492532
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162205	MAGOH	mago homolog, exon junction complex subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313047	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162214	SNX11	sorting nexin 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162214	SNX11	sorting nexin 11	gene	DOID:1115	sarcoma		ISO	RGD:1316444	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162214	SNX11	sorting nexin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162214	SNX11	sorting nexin 11	gene	DOID:3275	thymoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162214	SNX11	sorting nexin 11	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1316444	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12162214	SNX11	sorting nexin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162214	SNX11	sorting nexin 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162214	SNX11	sorting nexin 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162214	SNX11	sorting nexin 11	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316444	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:10534	stomach cancer		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:1059	intellectual disability		ISO	RGD:1351009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:1612	breast cancer		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:1909	melanoma		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:3275	thymoma		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:4362	cervical cancer		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162232	RALGDS	ral guanine nucleotide dissociation stimulator	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1351009	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:0051044	infantile-onset myofibrillar myopathy 12 with cardiomyopathy		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy	PMID:25741868
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:1324	lung cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162274	GTF3C5	general transcription factor IIIC subunit 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313045	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0070331	mitochondrial DNA depletion syndrome 8b		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE) | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)	PMID:19125351|PMID:19667227|PMID:22176657|PMID:23307888|PMID:24382854|PMID:25741868|PMID:28492532|PMID:29241262|PMID:31589614|PMID:32161153|PMID:33300680|PMID:35237671|PMID:35286480
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:7240710	20180130	OMIM			
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:19125351|PMID:19138848|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:32313153|PMID:33300680|PMID:8130196|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21378381|PMID:21646632|PMID:21951382|PMID:23107649|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:28492532|PMID:28639102|PMID:28812649|PMID:30439532|PMID:31462754|PMID:31521625|PMID:32161153|PMID:32313153|PMID:33300680|PMID:33858029|PMID:8130196|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:38991193|PMID:8130196|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25502805|PMID:25741868|PMID:26167114|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:36959467|PMID:38991193|PMID:8130196|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:12859174|PMID:16199547|PMID:17486094|PMID:17576681|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24741716|PMID:25326635|PMID:25326637|PMID:25502805|PMID:25741868|PMID:26467025|PMID:26546047|PMID:27290639|PMID:27483465|PMID:28482374|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30049826|PMID:30439532|PMID:30909120|PMID:31130284|PMID:31462754|PMID:31521625|PMID:31589614|PMID:31794469|PMID:32161153|PMID:32313153|PMID:33144682|PMID:33300680|PMID:33858029|PMID:34706366|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:36959467|PMID:38703036|PMID:38991193|PMID:8130196|PMID:9536098
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) | ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:16199547|PMID:17486094|PMID:18504129|PMID:19125351|PMID:19138848|PMID:19616983|PMID:19664747|PMID:19667227|PMID:2014|PMID:21297166|PMID:21378381|PMID:21646632|PMID:21951382|PMID:22176657|PMID:23107649|PMID:23307888|PMID:24086434|PMID:24382854|PMID:244|PMID:24741716|PMID:25326637|PMID:25502805|PMID:25741868|PMID:27290639|PMID:28482374|PMID:28492532|PMID:28639102|PMID:29241262|PMID:30049826|PMID:30909120|PMID:31462754|PMID:31589614|PMID:32161153|PMID:32313153|PMID:33300680|PMID:35188226|PMID:35237671|PMID:35286480|PMID:35756861|PMID:37784170|PMID:38703036|PMID:8130196
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1314438	D	RGD:7240710	20180130	OMIM			
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:0111518	autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:17486094|PMID:18504129|PMID:19125351|PMID:19664747|PMID:2014|PMID:21378381|PMID:21646632|PMID:23107649|PMID:24086434|PMID:244|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28639102|PMID:28812649|PMID:29241262|PMID:30049826|PMID:31462754|PMID:31794469|PMID:33144682|PMID:34706366|PMID:38434220|PMID:38991193|PMID:8130196
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:21951382|PMID:25741868|PMID:28492532
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:1115	sarcoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:11830	myopia		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:18504129|PMID:23107649|PMID:24086434|PMID:25741868|PMID:28492532|PMID:30049826|PMID:31462754
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:1324	lung cancer		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3070	high grade glioma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3459	breast carcinoma		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Breast carcinoma	PMID:18504129|PMID:23107649|PMID:24086434|PMID:25741868|PMID:28492532|PMID:30049826|PMID:31462754
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:3650	lactic acidosis		ISO	RGD:1314438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138848
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:5041	esophageal cancer		ISO	RGD:1314438	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:539	ophthalmoplegia		ISO	RGD:1314438	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ophthalmoplegia	PMID:21951382|PMID:23107649|PMID:25741868|PMID:28492532|PMID:32161153
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:557	kidney disease		ISO	RGD:1314438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19138848
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:19138848|PMID:21297166|PMID:21646632|PMID:25741868|PMID:27290639|PMID:28482374|PMID:28492532|PMID:30909120|PMID:33300680|PMID:35188226|PMID:35756861
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:576	proteinuria		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Proteinuria	PMID:21951382|PMID:25741868|PMID:28492532
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:630	genetic disease		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:36959467
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:699	mitochondrial myopathy		ISO	RGD:1314438	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17486094|PMID:19138848
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9001722	Dysarthria		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:23107649|PMID:25741868|PMID:28492532|PMID:32161153
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004493	Camptocormia		ISO	RGD:1314438	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Camptocormia	PMID:17486094|PMID:21378381|PMID:23107649|PMID:25741868|PMID:26969127|PMID:28492532|PMID:31462754|PMID:31521625|PMID:39533303
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004658	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction		ISO	RGD:1314438	D	RGD:7240710	20220316	OMIM			
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9004658	Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION | ClinVar Annotator: match by term: Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction	PMID:06|PMID:10|PMID:1016|PMID:12859174|PMID:17486094|PMID:18504129|PMID:19125351|PMID:2014|PMID:21378381|PMID:23107649|PMID:24086434|PMID:244|PMID:25502805|PMID:25741868|PMID:28492532|PMID:28639102|PMID:30049826|PMID:31462754|PMID:32827185|PMID:8130196
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314438	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162289	RRM2B	ribonucleotide reductase regulatory TP53 inducible subunit M2B	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1314438	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:1115	sarcoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:3275	thymoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:4362	cervical cancer		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:5041	esophageal cancer		ISO	RGD:1312494	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:9005834	Ependymomas		ISO	RGD:1312494	D	RGD:8554872	20250401	ClinVar		ClinVar Annotator: match by term: Ependymoma	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162305	ADGRA2	adhesion G protein-coupled receptor A2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312494	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:12336	male infertility		ISO	RGD:1305313	D	RGD:9068941	20200609	RGD		mRNA:increased expression:testis	PMID:22785219|REF_RGD_ID:10755341
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:3275	thymoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:4362	cervical cancer		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162327	CNOT7	CCR4-NOT transcription complex subunit 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1313268	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISO	RGD:1320182	D	RGD:7240710	20180130	OMIM			
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:0111506	palmoplantar keratoderma-esophageal carcinoma syndrome		ISO	RGD:1320182	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Palmoplantar keratoderma-esophageal carcinoma syndrome | ClinVar Annotator: match by term: RHBDF2-related condition | ClinVar Annotator: match by term: TYLOSIS WITH ESOPHAGEAL CANCER	PMID:22265016|PMID:25741868|PMID:28492532|PMID:28655741|PMID:30197081
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:630	genetic disease		ISO	RGD:1320182	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:687	hepatoblastoma		ISO	RGD:1320182	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:9004268	Uterine Neoplasms		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm of uterus	PMID:28492532
12162341	RHBDF2	rhomboid 5 homolog 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320182	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162372	EPHB1	EPH receptor B1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:0060058	lymphoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:0080600	COVID-19		ISO	RGD:1353347	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12162372	EPHB1	EPH receptor B1	gene	DOID:0080685	aortic dissection		ISO	RGD:1353347	D	RGD:9068941	20220929	RGD		protein:increased phosphorylation:aorta (human)	PMID:30787994|REF_RGD_ID:155260309
12162372	EPHB1	EPH receptor B1	gene	DOID:10283	prostate cancer	susceptibility	ISO	RGD:1353347	D	RGD:9068941	20220811	RGD		DNA:SNPs,haplptype:multiple	PMID:21603658|REF_RGD_ID:153305950
12162372	EPHB1	EPH receptor B1	gene	DOID:10534	stomach cancer		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162372	EPHB1	EPH receptor B1	gene	DOID:1115	sarcoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:12849	autistic disorder		ISO	RGD:1353347	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12162372	EPHB1	EPH receptor B1	gene	DOID:1324	lung cancer		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162372	EPHB1	EPH receptor B1	gene	DOID:1909	melanoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:5041	esophageal cancer		ISO	RGD:1353347	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162372	EPHB1	EPH receptor B1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162372	EPHB1	EPH receptor B1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:2556	D	RGD:9068941	20230427	RGD			PMID:28622474|REF_RGD_ID:329333030
12162372	EPHB1	EPH receptor B1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1551682	D	RGD:9068941	20210702	RGD		protein:increased phosphorylation:liver (mouse)	PMID:28100771|REF_RGD_ID:127285675
12162372	EPHB1	EPH receptor B1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162372	EPHB1	EPH receptor B1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353347	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162392	CDA	cytidine deaminase	gene	DOID:10534	stomach cancer		ISO	RGD:1322377	D	RGD:9068941	20220616	RGD		protein:increased expression:stomach:	PMID:8076377|REF_RGD_ID:152995290
12162392	CDA	cytidine deaminase	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322377	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.K27Q (human)	PMID:18347182|REF_RGD_ID:2316365
12162392	CDA	cytidine deaminase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162392	CDA	cytidine deaminase	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1322377	D	RGD:9068941	20220616	RGD		DNA:SNP:cds:rs1048977|rs12726436|rs2072671 (human)	PMID:28347776|REF_RGD_ID:152995291
12162392	CDA	cytidine deaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162392	CDA	cytidine deaminase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1322377	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:10811482|PMID:25330770
12162392	CDA	cytidine deaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322377	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162400	PRSS16	serine protease 16	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162400	PRSS16	serine protease 16	gene	DOID:10534	stomach cancer		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162400	PRSS16	serine protease 16	gene	DOID:3275	thymoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162400	PRSS16	serine protease 16	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12162400	PRSS16	serine protease 16	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162400	PRSS16	serine protease 16	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162400	PRSS16	serine protease 16	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162400	PRSS16	serine protease 16	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:10908	hydrocephalus		ISO	RGD:733153	D	RGD:9068941	20200609	RGD			PMID:15037549|REF_RGD_ID:1300301
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:1909	melanoma		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:4362	cervical cancer		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:5041	esophageal cancer		ISO	RGD:733152	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:733152	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12162413	LLGL1	LLGL scribble cell polarity complex component 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733152	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:10534	stomach cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:1324	lung cancer		ISO	RGD:1322601	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:3275	thymoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:4362	cervical cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162440	KLHDC4	kelch domain containing 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322601	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162460	FOXG1	forkhead box G1	gene	DOID:0050562	West syndrome		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Infantile spasms	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737514	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12162460	FOXG1	forkhead box G1	gene	DOID:0060249	scoliosis		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532
12162460	FOXG1	forkhead box G1	gene	DOID:0070297	primary microcephaly		ISO	RGD:737514	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary microcephaly	PMID:25741868
12162460	FOXG1	forkhead box G1	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:737514	D	RGD:7240710	20180130	OMIM			
12162460	FOXG1	forkhead box G1	gene	DOID:0070657	congenital variant of Rett syndrome		ISO	RGD:737514	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Atypical Rett syndrome | ClinVar Annotator: match by term: FOXG1 disorder | ClinVar Annotator: match by term: FOXG1-related condition | ClinVar Annotator: match by term: Rett syndrome, congenital variant	PMID:18414213|PMID:18571142|PMID:19564653|PMID:19578037|PMID:19623215|PMID:19806373|PMID:20734096|PMID:21280142|PMID:21441262|PMID:21694734|PMID:22091895|PMID:22190898|PMID:22258524|PMID:23838309|PMID:24388699|PMID:24731847|PMID:24836831|PMID:24901346|PMID:25356899|PMID:25356970|PMID:25741868|PMID:25914188|PMID:26344814|PMID:26364767|PMID:26467025|PMID:26544041|PMID:26633542|PMID:26938784|PMID:26993267|PMID:27001178|PMID:27029630|PMID:28333917|PMID:28492532|PMID:28554332|PMID:28628100|PMID:28661489|PMID:28781028|PMID:28851325|PMID:28947817|PMID:29389947|PMID:29611406|PMID:29655203|PMID:29852413|PMID:30525188|PMID:30533527|PMID:30792901|PMID:30842224|PMID:30866059|PMID:31199603|PMID:31618753|PMID:31780880|PMID:32581362|PMID:33057194|PMID:33644862|PMID:34284163|PMID:34837432|PMID:35982159|PMID:37541188|PMID:38843374
12162460	FOXG1	forkhead box G1	gene	DOID:0080833	laryngomalacia		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:0111566	familial isolated trichomegaly		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Long eyelashes	PMID:25741868|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:1059	intellectual disability		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, moderate | ClinVar Annotator: match by term: Severe intellectual deficiency | ClinVar Annotator: match by term: Severe intellectual disability	PMID:18414213|PMID:19578037|PMID:25741868|PMID:26633542|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28708303|PMID:32581362|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:10907	microcephaly		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Microcephaly | ClinVar Annotator: match by term: Progressive microcephaly	PMID:1356269|PMID:19564653|PMID:19578037|PMID:21280142|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:32581362|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:1143	exotropia		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:11476	osteoporosis		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteoporosis	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:11832	visual epilepsy		ISO	RGD:737514	D	RGD:9068941	20260108	CTD		CTD Direct Evidence: marker/mechanism	PMID:18627055
12162460	FOXG1	forkhead box G1	gene	DOID:1206	Rett syndrome		ISO	RGD:737514	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Rett syndrome | ClinVar Annotator: match by term: Rett's disorder	PMID:18414213|PMID:22739344|PMID:25741868|PMID:26344814|PMID:28492532|PMID:28661489|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:12849	autistic disorder		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868|PMID:28492532|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:13088	periventricular leukomalacia		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Periventricular leukomalacia	PMID:25741868|PMID:28492532
12162460	FOXG1	forkhead box G1	gene	DOID:13543	hyperparathyroidism		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperparathyroidism	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:1826	epilepsy		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28628100|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:1891	optic nerve disease		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:2340	craniosynostosis		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:255	hemangioma		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:25741868|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:2712	phimosis		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Phimosis	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:3650	lactic acidosis		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lactic acidosis	PMID:25741868|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:480	movement disease		ISO	RGD:737514	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:1356269|PMID:19564653|PMID:21280142|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:535	sleep disorder		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:540	strabismus		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:543	dystonia		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:630	genetic disease		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10369754|PMID:1356269|PMID:18414213|PMID:19564653|PMID:19578037|PMID:21280142|PMID:21441262|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:26633542|PMID:26845707|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30792901|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:674	cleft palate		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cleft palate	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:863	nervous system disease		ISO	RGD:737514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23203475
12162460	FOXG1	forkhead box G1	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:1356269|PMID:19564653|PMID:21280142|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9000586	Vocal Cord Paralysis		ISO	RGD:737514	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Vocal cord paresis	PMID:25741868|PMID:28661489|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:9001510	Funnel Chest		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pectus excavatum	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9002189	High Myopia		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: High myopia	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:9002589	Bone Fractures		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9003132	Sialorrhea		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Drooling	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:9003133	Hypertelorism		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868|PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:9003591	Telecanthus		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:19564653|PMID:28492532|PMID:28628100|PMID:28661489|PMID:28851325|PMID:29655203
12162460	FOXG1	forkhead box G1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:737514	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28492532|PMID:33949708
12162460	FOXG1	forkhead box G1	gene	DOID:9004538	Hearing Loss		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:9004992	Apnea		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Apnea	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9005532	Muscle Weakness		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscle weakness	PMID:1356269|PMID:21280142|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:1356269|PMID:19564653|PMID:19578037|PMID:21280142|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:26938784|PMID:28492532|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30792901|PMID:32581362|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9005616	Micrognathism		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:19564653|PMID:28661489|PMID:28851325|PMID:29655203
12162460	FOXG1	forkhead box G1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:9007462	Partial Agenesis of Corpus Callosum		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Partial agenesis of the corpus callosum	PMID:19578037|PMID:25741868|PMID:28492532|PMID:28628100|PMID:28661489|PMID:32581362
12162460	FOXG1	forkhead box G1	gene	DOID:9007661	Dwarfism		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:1356269|PMID:19578037|PMID:21280142|PMID:25741868|PMID:28492532|PMID:28661489|PMID:32581362|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:1356269|PMID:19564653|PMID:19578037|PMID:21280142|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:32581362|PMID:33644862|PMID:34837432|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9008739	Athetosis		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Athetosis	PMID:1356269|PMID:21280142|PMID:8332212
12162460	FOXG1	forkhead box G1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9250	acrocallosal syndrome		ISO	RGD:737514	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18627055
12162460	FOXG1	forkhead box G1	gene	DOID:930	orbital disease		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:28492532|PMID:28628100|PMID:28661489
12162460	FOXG1	forkhead box G1	gene	DOID:936	brain disease		ISO	RGD:737514	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Encephalopathy	PMID:19564653|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:19564653|PMID:19578037|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:30792901|PMID:32581362|PMID:33644862|PMID:34837432
12162460	FOXG1	forkhead box G1	gene	DOID:9840	esotropia		ISO	RGD:737514	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:19564653|PMID:19578037|PMID:24836831|PMID:25356899|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28661489|PMID:28851325|PMID:29655203|PMID:30792901|PMID:32581362|PMID:33644862|PMID:34837432
12162465	CUEDC1	CUE domain containing 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162465	CUEDC1	CUE domain containing 1	gene	DOID:1324	lung cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162465	CUEDC1	CUE domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162465	CUEDC1	CUE domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12162465	CUEDC1	CUE domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162465	CUEDC1	CUE domain containing 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349850	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:10534	stomach cancer		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:12336	male infertility		ISO	RGD:1354288	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Male infertility	PMID:25741868
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:1324	lung cancer		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:3275	thymoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162478	NXF3	nuclear RNA export factor 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354288	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:12849	autistic disorder		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:1826	epilepsy		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26647099|PMID:28325759|PMID:30192042|PMID:35388186|PMID:37531237
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:3275	thymoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:9003507	Premature Birth		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:9004866	Ataxia		ISO	RGD:1353330	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:26647099|PMID:28325759|PMID:30192042|PMID:35388186|PMID:37531237
12162479	PPP1R3F	protein phosphatase 1 regulatory subunit 3F	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353330	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162487	SLC7A3	solute carrier family 7 member 3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:733970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162487	SLC7A3	solute carrier family 7 member 3	gene	DOID:5041	esophageal cancer		ISO	RGD:733970	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162487	SLC7A3	solute carrier family 7 member 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162487	SLC7A3	solute carrier family 7 member 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162487	SLC7A3	solute carrier family 7 member 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733970	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:1115	sarcoma		ISO	RGD:1606791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:1324	lung cancer		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: EGFR-related lung cancer | ClinVar Annotator: match by term: Lung cancer	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:1909	melanoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:3275	thymoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162508	GRAMD1C	GRAM domain containing 1C	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162542	MRM1	mitochondrial rRNA methyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162542	MRM1	mitochondrial rRNA methyltransferase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162542	MRM1	mitochondrial rRNA methyltransferase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162542	MRM1	mitochondrial rRNA methyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162542	MRM1	mitochondrial rRNA methyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605341	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:10534	stomach cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:1115	sarcoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:1324	lung cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:1909	melanoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:3275	thymoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:4362	cervical cancer		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1349528	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:9002189	High Myopia		ISO	RGD:1349528	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe Myopia	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162551	ABLIM2	actin binding LIM protein family member 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1349528	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162612	SNX18	sorting nexin 18	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162612	SNX18	sorting nexin 18	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162612	SNX18	sorting nexin 18	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162612	SNX18	sorting nexin 18	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162612	SNX18	sorting nexin 18	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1321231	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17984051
12162612	SNX18	sorting nexin 18	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162612	SNX18	sorting nexin 18	gene	DOID:9256	colorectal cancer		ISO	RGD:1321231	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12162639	RHCE	Rh blood group CcEe antigens	gene	DOID:4175	Rh isoimmunization		ISO	RGD:736735	D	RGD:7240710	20210818	OMIM			
12162639	RHCE	Rh blood group CcEe antigens	gene	DOID:589	congenital hemolytic anemia		ISO	RGD:736735	D	RGD:9068941	20201127	CTD		CTD Direct Evidence: marker/mechanism	PMID:9657769
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:10534	stomach cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:1115	sarcoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:1324	lung cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:1909	melanoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:2394	ovarian cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1343563	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162653	CNOT10	CCR4-NOT transcription complex subunit 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1343563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162686	REEP1	receptor accessory protein 1	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1313134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30061737
12162686	REEP1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:7240710	20220921	OMIM			
12162686	REEP1	receptor accessory protein 1	gene	DOID:0081425	autosomal recessive distal hereditary motor neuronopathy 6		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6 | ClinVar Annotator: match by term: NEUROPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6	PMID:25741868
12162686	REEP1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:7240710	20180130	OMIM			
12162686	REEP1	receptor accessory protein 1	gene	DOID:0110782	hereditary spastic paraplegia 31		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 31 | ClinVar Annotator: match by term: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Spastic paraplegia 31, autosomal dominant	PMID:16199547|PMID:16826527|PMID:17576681|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:21618648|PMID:22062632|PMID:22703882|PMID:23812641|PMID:24098485|PMID:24451228|PMID:24478229|PMID:24986827|PMID:25025039|PMID:25525159|PMID:25640679|PMID:25741868|PMID:26201691|PMID:26374131|PMID:26392352|PMID:26467025|PMID:26671083|PMID:27260292|PMID:28362824|PMID:28492532|PMID:29124833|PMID:30373780|PMID:30637453|PMID:32581362|PMID:32655478|PMID:34782662|PMID:34983064|PMID:9536098
12162686	REEP1	receptor accessory protein 1	gene	DOID:0111203	autosomal dominant distal hereditary motor neuronopathy 5		ISO	RGD:1313134	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12162686	REEP1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:7240710	20180130	OMIM			
12162686	REEP1	receptor accessory protein 1	gene	DOID:0111205	autosomal dominant distal hereditary motor neuronopathy 12		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURONOPATHY, DISTAL HEREDITARY MOTOR, HARDING TYPE VB | ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 5B | ClinVar Annotator: match by term: SPINAL MUSCULAR ATROPHY, DISTAL, HARDING TYPE VB	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:25741868|PMID:26467025|PMID:28492532
12162686	REEP1	receptor accessory protein 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:24604904|PMID:25025039|PMID:25741868|PMID:28492532
12162686	REEP1	receptor accessory protein 1	gene	DOID:1389	polyneuropathy		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polyneuropathy	PMID:25741868
12162686	REEP1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Pure or complex autosomal recessive spastic paraplegia	PMID:16199547|PMID:16826527|PMID:18321925|PMID:18644145|PMID:19034539|PMID:19072839|PMID:20718791|PMID:22703882|PMID:23400676|PMID:23812641|PMID:24098485|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:29629531|PMID:30637453|PMID:32581362
12162686	REEP1	receptor accessory protein 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:28832565|PMID:32581362
12162686	REEP1	receptor accessory protein 1	gene	DOID:3275	thymoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162686	REEP1	receptor accessory protein 1	gene	DOID:607	paraplegia		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:16826527|PMID:18321925|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26467025|PMID:28492532|PMID:32581362|PMID:34983064
12162686	REEP1	receptor accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313134	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:24051375|PMID:25741868|PMID:26392352|PMID:28492532
12162686	REEP1	receptor accessory protein 1	gene	DOID:630	genetic disease		ISO	RGD:1313134	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16826527|PMID:18321925|PMID:19034539|PMID:20718791|PMID:22703882|PMID:23812641|PMID:24051375|PMID:24478229|PMID:25525159|PMID:25741868|PMID:26201691|PMID:26392352|PMID:26467025|PMID:28492532|PMID:32581362
12162686	REEP1	receptor accessory protein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162686	REEP1	receptor accessory protein 1	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	PMID:28492532
12162686	REEP1	receptor accessory protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162686	REEP1	receptor accessory protein 1	gene	DOID:9007428	Muscle Spasticity		ISO	RGD:1313134	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Spasticity	PMID:25025039|PMID:25741868
12162686	REEP1	receptor accessory protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162705	C15H1orf185	chromosome 15 C1orf185 homolog	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1601806	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12162705	C15H1orf185	chromosome 15 C1orf185 homolog	gene	DOID:5041	esophageal cancer		ISO	RGD:1601806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162732	SHISA9	shisa family member 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160513	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:0060058	lymphoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:10534	stomach cancer		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:1909	melanoma		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12162747	TNIP3	TNFAIP3 interacting protein 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346864	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050840	cervical dystonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Torticollis	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:7240710	20260408	OMIM			
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0051076	neurodevelopmental disorder with parkinsonism or other movement abnormalities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH PARKINSONISM OR OTHER MOVEMENT ABNORMALITIES	PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:7240710	20180130	OMIM			
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0060356	Vici syndrome		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: EPG5-related condition | ClinVar Annotator: match by term: VICI SYNDROME | ClinVar Annotator: match by term: Vici syndrome	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20307669|PMID:22406018|PMID:23222957|PMID:23674064|PMID:24033266|PMID:25331754|PMID:25640679|PMID:25741868|PMID:26854214|PMID:26917586|PMID:27343256|PMID:27577878|PMID:28168853|PMID:28333917|PMID:28492532|PMID:28615637|PMID:28939701|PMID:29130391|PMID:29159459|PMID:29983806|PMID:31130284|PMID:31184778|PMID:31625567|PMID:31981491|PMID:32313153|PMID:32558422|PMID:33255631|PMID:33303739|PMID:33365035|PMID:34405433|PMID:34645488|PMID:40192014|PMID:9536098
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:0080833	laryngomalacia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital laryngomalacia	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10534	stomach cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1347008	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa, syndromic	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:10907	microcephaly		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1324	lung cancer		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1826	epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1891	optic nerve disease		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:1909	melanoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2234	focal epilepsy		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:2340	craniosynostosis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1314820	D	RGD:9068941	20220825	MouseDO			
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1347008	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:540	strabismus		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Strabismus	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:630	genetic disease		ISO	RGD:1347008	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23222957|PMID:23674064|PMID:25741868|PMID:28492532|PMID:31625567
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9000123	Deglutition Disorders		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysphagia	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001031	Retrognathia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retrognathia	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum, agenesis of	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9002134	Heart Murmurs		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Heart murmur	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9003157	Respiratory Sounds		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stridor	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9005660	Hypopigmentation		ISO	RGD:1347008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23222957
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9007661	Dwarfism		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008189	Pyelectasis		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Fetal pyelectasis	PMID:25741868|PMID:28492532
12162764	EPG5	ectopic P-granules 5 autophagy tethering factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1347008	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:10862081|PMID:15542397|PMID:17702006|PMID:19105186|PMID:19127411|PMID:20695019|PMID:21031596|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30640048|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1319563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome progeroid type	PMID:10862081|PMID:21031596|PMID:28492532|PMID:31674007|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0050952	spastic ataxia		ISO	RGD:1319563	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:10862081|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0060058	lymphoma		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	PMID:19127411|PMID:21031596|PMID:25525159|PMID:25741868|PMID:28492532|PMID:30640048|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0080377	peroxisomal biogenesis disorder		ISO	RGD:1319563	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10862081|PMID:9683594|PMID:9700193
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0080481	peroxisome biogenesis disorder 6A		ISO	RGD:1319563	D	RGD:7240710	20180425	OMIM			
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0080481	peroxisome biogenesis disorder 6A		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6A (Zellweger)	PMID:10862081|PMID:15542397|PMID:16199547|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:20695019|PMID:21031596|PMID:24033266|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28492532|PMID:30640048|PMID:9536098|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0081435	Peroxisome biogenesis disorder 6B		ISO	RGD:1319563	D	RGD:7240710	20180130	OMIM			
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:0081435	Peroxisome biogenesis disorder 6B		ISO	RGD:1319563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 6B | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 6B	PMID:10527683|PMID:10862081|PMID:15542397|PMID:17702006|PMID:19105186|PMID:19127411|PMID:20695019|PMID:21031596|PMID:25525159|PMID:25741868|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:1826	epilepsy		ISO	RGD:1319563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:630	genetic disease		ISO	RGD:1319563	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10862081|PMID:16199547|PMID:21031596|PMID:25741868|PMID:28492532|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:630	genetic disease		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1319563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28492532
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1319563	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Developmental delay	PMID:25741868|PMID:28492532
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:9008179	Peroxisome Biogenesis Disorder, Complementation Group 7		ISO	RGD:1319563	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7 | ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group B	PMID:10862081|PMID:15542397|PMID:16199547|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:20695019|PMID:21031596|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:2723085|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:34000440|PMID:9536098|PMID:9683594
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1319563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1319563	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10527683|PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20301621|PMID:20695019|PMID:21031596|PMID:21465523|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:27230853|PMID:28320181|PMID:28492532|PMID:30640048|PMID:9683594|PMID:9700193
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1319563	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome	PMID:10862081|PMID:12794690|PMID:15542397|PMID:16199547|PMID:17041890|PMID:17576681|PMID:17702006|PMID:19105186|PMID:19127411|PMID:19142205|PMID:20695019|PMID:21031596|PMID:21465523|PMID:21862673|PMID:24033266|PMID:25179809|PMID:25525159|PMID:25741868|PMID:26319495|PMID:27230853|PMID:27469511|PMID:28320181|PMID:28492532|PMID:30640048|PMID:34234304|PMID:34241766|PMID:35038753|PMID:40267090|PMID:7565793|PMID:9371928|PMID:9536098|PMID:9683594|PMID:9700193
12162812	PEX10	peroxisomal biogenesis factor 10	gene	DOID:906	peroxisomal disease		ISO	RGD:1607093	D	RGD:9068941	20200609	RGD			PMID:25176044|REF_RGD_ID:13207455
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:7240710	20210505	OMIM			
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:0060937	dystonia 30		ISO	RGD:1345721	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: DYSTONIA 30 | ClinVar Annotator: match by term: Dystonia 30 | ClinVar Annotator: match by term: VPS16-associated disorder | ClinVar Annotator: match by term: VPS16-related condition	PMID:16199547|PMID:25741868|PMID:28492532|PMID:32808683
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:10534	stomach cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1115	sarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:1324	lung cancer		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3070	high grade glioma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5041	esophageal cancer		ISO	RGD:1345721	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:630	genetic disease		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:870	neuropathy		ISO	RGD:1345721	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9002720	Splenomegaly		ISO	RGD:1345721	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Splenomegaly	
12162819	VPS16	VPS16 core subunit of CORVET and HOPS complexes	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1345721	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses		ISO	RGD:1322627	D	RGD:7240710	20230201	OMIM			
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:0070510	inflammatory poikiloderma with hair abnormalities and acral keratoses		ISO	RGD:1322627	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Inflammatory poikiloderma with hair abnormalities and acral keratoses	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:10534	stomach cancer		ISO	RGD:1322627	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:3275	thymoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:4362	cervical cancer		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162851	LTV1	LTV1 ribosome biogenesis factor	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322627	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162866	MIR487A	microRNA mir-487a	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1604865	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12162902	DDX23	DEAD-box helicase 23	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:0080924	complex cortical dysplasia with other brain malformations 14B		ISO	RGD:1318600	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital bilateral perisylvian syndrome	PMID:25741868
12162902	DDX23	DEAD-box helicase 23	gene	DOID:10534	stomach cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:1324	lung cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:4362	cervical cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:630	genetic disease		ISO	RGD:1318600	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:9003818	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES		ISO	RGD:1318600	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with visual defects and brain anomalies	PMID:25741868
12162902	DDX23	DEAD-box helicase 23	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318600	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: DDX23-related Neurodevelopmental disorder | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34050707
12162902	DDX23	DEAD-box helicase 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162902	DDX23	DEAD-box helicase 23	gene	DOID:9256	colorectal cancer		ISO	RGD:1318600	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:10534	stomach cancer		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:1324	lung cancer		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1344806	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162927	BOD1L1	biorientation of chromosomes in cell division 1 like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344806	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:1115	sarcoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:3275	thymoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:4362	cervical cancer		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321005	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162958	FRS3	fibroblast growth factor receptor substrate 3	gene	DOID:905	Zellweger syndrome		ISO	RGD:1321005	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Zellweger Spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:1115	sarcoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Retinopathy of prematurity	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1313252	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:25741868
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:2051	maxillary sinusitis		ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNP: :c.1282G>A (p.Ala428Thr)	PMID:25707370|REF_RGD_ID:632517858
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:2316	brain ischemia		ISO	RGD:1305303	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:cerebral cortex	PMID:21925238|REF_RGD_ID:7495802
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:2841	asthma		ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNP:intron:rs4251513	PMID:33020954|REF_RGD_ID:632517864
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:4481	allergic rhinitis	sexual_dimorphism	ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNPs: :rs4251431, rs6582484	PMID:21738793|REF_RGD_ID:632517861
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:4481	allergic rhinitis	susceptibility	ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNP: :rs3794262	PMID:21738793|REF_RGD_ID:632517861
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:630	genetic disease		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9000113	Pneumococcal Meningitis	disease_progression	ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNP, haplotype:3' utr:rs4251552	PMID:27432718|REF_RGD_ID:632517876
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1313252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16537705
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:1313252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21925238
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:7240710	20180130	OMIM			
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9003909	Immunodeficiency 67		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: IMMUNODEFICIENCY 67 | ClinVar Annotator: match by term: IRAK4-related disorder | ClinVar Annotator: match by term: Immunodeficiency 67	PMID:12637671|PMID:12925671|PMID:16199547|PMID:16647421|PMID:16950813|PMID:17312103|PMID:17544092|PMID:17576681|PMID:17878374|PMID:17893200|PMID:19663824|PMID:19814626|PMID:20621347|PMID:21057262|PMID:23538514|PMID:24316379|PMID:25344726|PMID:25741868|PMID:26472314|PMID:26698383|PMID:28492532|PMID:30073964|PMID:32047491|PMID:33083971|PMID:9536098
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9003909	Immunodeficiency 67	no_association	ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		DNA:SNPs: :multiple	PMID:25886387|REF_RGD_ID:632517868
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9004384	Bacterial Infections and Mycoses	susceptibility	ISO	RGD:1313252	D	RGD:9068941	20200609	RGD		deficiency of IRAK4/extracellular pyogenic bacterial and fungal infections, OMIM:607676    DNA:deletion:CDS:821delT	PMID:12637671|REF_RGD_ID:1600199
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9004484	Sepsis		ISO	RGD:1305303	D	RGD:9068941	20200609	RGD			PMID:23073793|REF_RGD_ID:7495805
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1313253	D	RGD:9068941	20260131	RGD			PMID:28363843|REF_RGD_ID:632517877
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1313253	D	RGD:9068941	20260131	RGD		associated with adult respiratory distress syndrome	PMID:36076574|REF_RGD_ID:632517874
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9006095	Ascites		ISO	RGD:1313252	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ascites	PMID:12637671|PMID:12925671|PMID:17544092|PMID:17893200|PMID:19663824|PMID:20621347|PMID:21057262|PMID:23538514|PMID:25344726|PMID:25741868|PMID:26472314|PMID:28492532
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1313252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003376
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9007480	Hyperoxia		ISO	RGD:1313253	D	RGD:9068941	20200609	RGD			PMID:15622543|REF_RGD_ID:7495804
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9008727	Ige Responsiveness, Atopic	susceptibility	ISO	RGD:1313252	D	RGD:9068941	20260131	RGD		associated with chronic rhinosinusitis;DNA:SNPs:intron:rs1461567, rs4251513	PMID:19254290|REF_RGD_ID:632517859
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1313252	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28003376
12162972	IRAK4	interleukin 1 receptor associated kinase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1313252	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163004	RASL12	RAS like family 12	gene	DOID:1324	lung cancer		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163004	RASL12	RAS like family 12	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1314790	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163011	UPK3B	uroplakin 3B	gene	DOID:0080600	COVID-19		ISO	RGD:1320049	D	RGD:9068941	20200702	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12163011	UPK3B	uroplakin 3B	gene	DOID:10534	stomach cancer		ISO	RGD:1320049	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163011	UPK3B	uroplakin 3B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163011	UPK3B	uroplakin 3B	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12163011	UPK3B	uroplakin 3B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320049	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:28492532
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:0111507	Lenz-Majewski hyperostotic dwarfism		ISO	RGD:1319019	D	RGD:7240710	20180130	OMIM			
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:0111507	Lenz-Majewski hyperostotic dwarfism		ISO	RGD:1319019	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM | ClinVar Annotator: match by term: Lenz-Majewski hyperostosis syndrome | ClinVar Annotator: match by term: PTDSS1-related condition	PMID:17576681|PMID:24241535|PMID:25741868|PMID:28492532|PMID:29341480|PMID:9536098
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:10907	microcephaly		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:29341480
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:1115	sarcoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:1324	lung cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:29341480
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:1909	melanoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Skeletal dysplasia	PMID:28492532
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:29341480
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:28492532
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9004665	Pectus Carinatum		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pectus carinatum	PMID:28492532
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:29341480
12163040	PTDSS1	phosphatidylserine synthase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319019	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163083	PAQR6	progestin and adipoQ receptor family member 6	gene	DOID:10534	stomach cancer		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163083	PAQR6	progestin and adipoQ receptor family member 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163083	PAQR6	progestin and adipoQ receptor family member 6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163083	PAQR6	progestin and adipoQ receptor family member 6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323634	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163109	KLRG2	killer cell lectin like receptor G2	gene	DOID:3275	thymoma		ISO	RGD:1604700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163109	KLRG2	killer cell lectin like receptor G2	gene	DOID:4362	cervical cancer		ISO	RGD:1604700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163109	KLRG2	killer cell lectin like receptor G2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163109	KLRG2	killer cell lectin like receptor G2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604700	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0050848	obstructive sleep apnea	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:faucial pillar, muscle (human)	PMID:20847078|REF_RGD_ID:4891917
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0060319	cardiac arrest		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:hippocampus (rat)	PMID:19756023|REF_RGD_ID:4889980
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27639593|REF_RGD_ID:14995335
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	disease_progression	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:27639593|REF_RGD_ID:14995335
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:27639593|REF_RGD_ID:14995335
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:27639593|REF_RGD_ID:14995335
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080600	COVID-19	severity	ISO	RGD:1604061	D	RGD:9068941	20200618	RGD		protein:increased expression:serum (human)	PMID:32427582|REF_RGD_ID:30309200
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:0080821	exercise-induced bronchoconstriction		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (human)	PMID:19996575|REF_RGD_ID:4892021
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10247	pleurisy		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung (mouse)	PMID:18672096|REF_RGD_ID:4890016
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10591	pre-eclampsia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (rat)	PMID:19617880|REF_RGD_ID:2317272
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10603	glucose intolerance		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:16306328|REF_RGD_ID:2307103
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebrum, blood vessels (human)	PMID:18440671|REF_RGD_ID:4890025
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:10763	hypertension		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:increased expression:serum	PMID:15668187|REF_RGD_ID:2307105
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:11204	allergic conjunctivitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:conjunctiva	PMID:12682842|REF_RGD_ID:2307196
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:11446	sciatic neuropathy		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve (rat)	PMID:19152028|REF_RGD_ID:4890004
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12140	Chagas disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:20452453|REF_RGD_ID:4889906
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12126966
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:15770052|REF_RGD_ID:14995336
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12586603
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:31258651|REF_RGD_ID:14995304
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12375	bronchopneumonia		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:20350425|REF_RGD_ID:4892019
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:12574	posterior uveitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:aqueous humor, vitreous body (rat)	PMID:19232006|REF_RGD_ID:4889998
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:altered expression:lung, T cell (mouse)	PMID:19124761|REF_RGD_ID:4891880
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:13141	uveitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:conjunctiva, ciliary body	PMID:19104678|REF_RGD_ID:2306302
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:18717637|REF_RGD_ID:4891914
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:13406	pulmonary sarcoidosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:bronchoalveolar lavage cell (human)	PMID:10384061|REF_RGD_ID:4891436
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:13976	peptic esophagitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		associated with Asthma;mRNA:increased expression:esophagus	PMID:18222984|REF_RGD_ID:2307110
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604061	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25162674
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:1793	pancreatic cancer		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:19155524|REF_RGD_ID:2317567
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:1883	hepatitis C	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Intravenous Substance Abuse;DNA:haplotype: :rs2107538A,rs2280788G,rs2280789C (human)	PMID:27304910|REF_RGD_ID:14401735
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:69127	D	RGD:9068941	20230629	RGD			PMID:19122657|REF_RGD_ID:329901820
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :	PMID:19017985|REF_RGD_ID:14995327
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	disease_progression	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:30536991|REF_RGD_ID:14401739
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2043	hepatitis B	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-403G>A,-28C>G (human)	PMID:22576913|PMID:23336202|REF_RGD_ID:14995330|REF_RGD_ID:14995331
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21227906
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16259780|REF_RGD_ID:2307165
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:14656931|REF_RGD_ID:4890030
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2349	arteriosclerosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (mouse)	PMID:19752857|REF_RGD_ID:4891452
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, frontal cortex (human)	PMID:11091283|REF_RGD_ID:4890028
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2518	orchitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:11897701|REF_RGD_ID:704384
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:14611812|REF_RGD_ID:2307195
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2799	bronchiolitis obliterans		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (rat)	PMID:19840961|REF_RGD_ID:4889978
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8534483
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:1604061	D	RGD:9068941	20260305	RGD		protein:decreased expression:blood plasma	PMID:27145233|REF_RGD_ID:634435999
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:smooth muscle cell	PMID:18208670|REF_RGD_ID:2307112
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, secretion (mouse)	PMID:20092989|REF_RGD_ID:4891430
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:transition:5' utr:-403G>A (human)	PMID:20430255|REF_RGD_ID:4891381
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:289	endometriosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium (human)	PMID:18595729|REF_RGD_ID:2307108
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2921	glomerulonephritis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10385480
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:1604061	D	RGD:9068941	20200702	RGD		protein:increased expression:bronchoalveolar lavage (human)	PMID:15888207|REF_RGD_ID:34201108
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:32364527|REF_RGD_ID:27226699
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome		ISO	RGD:69127	D	RGD:9068941	20200619	RGD		mRNA, protein: increased expression, altered expression:lung, brain (mouse)	PMID:15356152|REF_RGD_ID:30309221
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1604061	D	RGD:9068941	20200618	RGD		Severe Acute Respiratory Syndrome; DNA:transversion:5' utr:-28C>G (human)	PMID:19258635|REF_RGD_ID:4891448
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:1604061	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:16195357|REF_RGD_ID:30309218
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	severity	ISO	RGD:69127	D	RGD:9068941	20200618	RGD		mRNA:increased expression:lung (mouse)	PMID:32365944|REF_RGD_ID:30309207
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:1604061	D	RGD:9068941	20200702	RGD			PMID:15781938|PMID:15865221|REF_RGD_ID:30309220|REF_RGD_ID:33769580
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2945	severe acute respiratory syndrome	treatment	ISO	RGD:69127	D	RGD:9068941	20200702	RGD			PMID:32553273|REF_RGD_ID:32716426
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (human)	PMID:15128813|REF_RGD_ID:4892112
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:snps:5' utr:g.-403G>A rs2280788, g.-28C>G rs2107538 (human)	PMID:19335954|REF_RGD_ID:4891879
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:1604061	D	RGD:9068941	20230902	RGD		protein:increased expression:plasma	PMID:26283469|REF_RGD_ID:401794584
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:breast, ductal carcinoma (human)	PMID:18790652|REF_RGD_ID:4891911
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3021	acute kidney failure		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (mouse)	PMID:19508392|REF_RGD_ID:4889990
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:ear (mouse)	PMID:15491423|REF_RGD_ID:1626251
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3082	interstitial lung disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:20089076|REF_RGD_ID:4891431
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:lung, bronchial epithelium, submucosa (human)	PMID:19703829|REF_RGD_ID:4891477
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18249437
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3753	Hermansky-Pudlak syndrome		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, alveolar macrophage (human)	PMID:19729668|REF_RGD_ID:4891476
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17620002
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20833968|REF_RGD_ID:4145112
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:glomerulus	PMID:17898087|REF_RGD_ID:2307059
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:4989	pancreatitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Pancreatic Neoplasms;DNA:polymorphism: :-403G>A (human)	PMID:16614115|REF_RGD_ID:2317568
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:4989	pancreatitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas (rat)	PMID:16843865|REF_RGD_ID:2307146
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD			PMID:20978355|PMID:28011329|REF_RGD_ID:14995306|REF_RGD_ID:14995328
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNAP, haplotype: :rs11652536(human)	PMID:20978355|REF_RGD_ID:14995328
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28011329|REF_RGD_ID:14995306
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5213	chronic inflammatory demyelinating polyradiculoneuropathy		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:sciatic nerve (mouse)	PMID:19050296|REF_RGD_ID:4890012
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1604061	D	RGD:7240710	20230505	OMIM			
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5434	scrapie		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:22787236|REF_RGD_ID:13782158
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:551	toxic pneumonitis	treatment	ISO	RGD:620876|RGD:620596	D	RGD:9068941	20260718	RGD			PMID:31295064|REF_RGD_ID:736797807
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:557	kidney disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:15882261|REF_RGD_ID:2307176
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:5844	myocardial infarction		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart (rat)	PMID:18954648|REF_RGD_ID:4890013
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:6432	pulmonary hypertension		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:19932032|REF_RGD_ID:4891440
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:promoter:-403G>A,-28C>G (human)	PMID:22374185|REF_RGD_ID:14995333
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with alcoholic liver cirrhosis;DNA:SNP:promoter:-403G>A(human)	PMID:21610221|REF_RGD_ID:14995338
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28011329|REF_RGD_ID:14995306
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:783	end stage renal disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney cortex (rat)	PMID:19535570|REF_RGD_ID:4889989
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:809	cocaine abuse	severity	ISO	RGD:1604061	D	RGD:9068941	20230902	RGD			PMID:21806491|REF_RGD_ID:401794583
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung:bronchoalveolar lavage cell (human)	PMID:10384061|REF_RGD_ID:4891436
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:841	extrinsic allergic alveolitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:16387809|REF_RGD_ID:4891434
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:850	lung disease		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung	PMID:17304115|REF_RGD_ID:2307141
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:8704	genital herpes		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:12502811|REF_RGD_ID:4890015
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;protein:decreased tyrosine phosphorylation:vitreous humor	PMID:18978347|REF_RGD_ID:2307061
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:8947	diabetic retinopathy	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16249511|REF_RGD_ID:2307104
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord segment (mouse)	PMID:20478301|REF_RGD_ID:4889905
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9000310	Lung Injury		ISO	RGD:1604061	D	RGD:9068941	20250605	CTD		CTD Direct Evidence: marker/mechanism	PMID:39746565
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9000641	Pain		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:11438578|REF_RGD_ID:2306307
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9000965	Neoplasm Metastasis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD		associated with Animal Mammary Neoplasms;	PMID:15692764|REF_RGD_ID:14995455
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9000972	Fever		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:15066130|REF_RGD_ID:2307192
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001488	Human Influenza		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung (mouse)	PMID:20656925|REF_RGD_ID:4145452
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001488	Human Influenza	susceptibility	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:16208318|REF_RGD_ID:4892131
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:liver	PMID:20978355|REF_RGD_ID:14995328
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	disease_progression	ISO	RGD:1322355	D	RGD:9068941	20200609	RGD			PMID:25617348|REF_RGD_ID:14995329
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:20978355|REF_RGD_ID:14995328
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:22574195|REF_RGD_ID:14995337
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002106	Pneumococcal Pneumonia	susceptibility	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:16455992|REF_RGD_ID:4892130
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002159	Liver Reperfusion Injury	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28623253|REF_RGD_ID:14995305
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:28623253|REF_RGD_ID:14995305
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;protein:increased expression:urine	PMID:18326229|REF_RGD_ID:2307063
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002165	Diabetic Nephropathies	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism:promoter:-28C>G	PMID:12610055|REF_RGD_ID:2307107
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:18656466|REF_RGD_ID:2303121
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion (rat)	PMID:18076762|REF_RGD_ID:4890034
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:9637726|REF_RGD_ID:4889940
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:synovium, monocytes	PMID:17052673|REF_RGD_ID:2307143
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002762	Ovarian Neoplasms	severity	ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:20400704|REF_RGD_ID:4891397
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:17666800|REF_RGD_ID:2307114
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (mouse)	PMID:15833367|REF_RGD_ID:4890027
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002834	Herpesviridae Infections		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:18768196|REF_RGD_ID:4891912
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9002850	Immediate Hypersensitivity		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA:increased expression:nasal cavity epithelium	PMID:15823807|REF_RGD_ID:2307177
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Pregnancy in Diabetics;protein:decreased expression:serum	PMID:17924206|REF_RGD_ID:2307065
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9003671	Hypoventilation		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Obesity; protein:increased secretion:serum (human)	PMID:19701463|REF_RGD_ID:4892041
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:gut	PMID:15542513|REF_RGD_ID:2307184
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:19558673|REF_RGD_ID:4891479
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver:	PMID:15770052|REF_RGD_ID:14995336
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	disease_progression	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3817656(human)	PMID:29703961|REF_RGD_ID:14995334
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-403G>A(human)	PMID:12557141|REF_RGD_ID:14995332
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype: :	PMID:15368437|REF_RGD_ID:14995340
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004484	Sepsis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (rat)	PMID:18290317|REF_RGD_ID:4890036
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18985009
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein, mRNA:increased expression:liver	PMID:12579535|REF_RGD_ID:14995451
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004659	Respiration Disorders		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		Severe Acute Respiratory Syndrome; mRNA:increased expression:lung (mouse)	PMID:19906920|REF_RGD_ID:4891446
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:1604061	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16284884
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9004912	Hyperoxaluria		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:renal tubule, epithelial cell (rat)	PMID:16284884|REF_RGD_ID:2307164
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9005106	Animal Toxoplasmosis		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood vessel endothelial cell	PMID:15710456|REF_RGD_ID:2307183
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9005372	Inflammation		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:subcutaneous tissue, granuloma (rat)	PMID:17164972|REF_RGD_ID:2307142
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9005372	Inflammation		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (mouse)	PMID:19486528|REF_RGD_ID:4891481
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9005930	Endotoxemia		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16215387|REF_RGD_ID:2307171
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9006262	Cytomegalovirus Infections		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:lung, secretion (human)	PMID:18513272|REF_RGD_ID:4891916
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9006618	Liver Metastasis	treatment	ISO	RGD:69127	D	RGD:9068941	20200609	RGD		associated with Animal Mammary Neoplasms;	PMID:15692764|REF_RGD_ID:14995455
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased secretion:plasma (rat)	PMID:19905967|REF_RGD_ID:4889977
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9006928	Viral Bronchiolitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased secretion:serum (human)	PMID:19005677|REF_RGD_ID:4891884
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9006928	Viral Bronchiolitis	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:snp:5' utr:g.-28C>G (human)	PMID:19099677|REF_RGD_ID:4891881
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9007090	Experimental Seizures		ISO	RGD:69069	D	RGD:9068941	20230128	RGD		protein:increased expression:hippocampus, vasculature (rat)	PMID:20940264|REF_RGD_ID:4889880
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9007244	Paramyxoviridae Infections		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucus (human)	PMID:20182399|REF_RGD_ID:4891406
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9007417	Pseudomonas Infections		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		protein:increased expression:lung, secretion (mouse)	PMID:20720199|REF_RGD_ID:4891951
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9007417	Pseudomonas Infections	treatment	ISO	RGD:69127	D	RGD:9068941	20200702	RGD			PMID:27175332|REF_RGD_ID:32733623
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9008103	Seasonal Allergic Rhinitis		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:inferior turbinate, epithelium (human)	PMID:20459697|REF_RGD_ID:4891379
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9008113	Tissue Adhesions		ISO	RGD:69069	D	RGD:9068941	20200609	RGD			PMID:18707039|REF_RGD_ID:4890014
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD			PMID:17711627|REF_RGD_ID:14995339
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69127	D	RGD:9068941	20200609	RGD			PMID:18708360|REF_RGD_ID:4891915
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9351	diabetes mellitus		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18385799|REF_RGD_ID:2307062
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17966842|REF_RGD_ID:2307064
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:28011329|REF_RGD_ID:14995306
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9452	steatotic liver disease		ISO	RGD:69127	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:28011329|REF_RGD_ID:14995306
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus;protein:increased expression:serum	PMID:19276232|REF_RGD_ID:2307060
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1604061	D	RGD:9068941	20200609	RGD		DNA:SNPs:rs4251719, rs2306630, rs2107538 (human)	PMID:16855620|REF_RGD_ID:2307102
12163122	CCL5	C-C motif chemokine ligand 5	gene	DOID:9970	obesity		ISO	RGD:69069	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:18469848|REF_RGD_ID:2307038
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:10534	stomach cancer		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:1115	sarcoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:1317842	D	RGD:9068941	20200609	RGD			PMID:25900027|REF_RGD_ID:11352663
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1317842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163129	FRS2	fibroblast growth factor receptor substrate 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163190	CRMP1	collapsin response mediator protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163190	CRMP1	collapsin response mediator protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163190	CRMP1	collapsin response mediator protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163190	CRMP1	collapsin response mediator protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163190	CRMP1	collapsin response mediator protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731741	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:36511780
12163208	NKIRAS2	NFKB inhibitor interacting Ras like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163208	NKIRAS2	NFKB inhibitor interacting Ras like 2	gene	DOID:0080600	COVID-19		ISO	RGD:1316518	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12163208	NKIRAS2	NFKB inhibitor interacting Ras like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163208	NKIRAS2	NFKB inhibitor interacting Ras like 2	gene	DOID:3275	thymoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163208	NKIRAS2	NFKB inhibitor interacting Ras like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316518	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163216	FKBPL	FKBP prolyl isomerase like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163216	FKBPL	FKBP prolyl isomerase like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353952	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163216	FKBPL	FKBP prolyl isomerase like	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1353952	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20103631
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:0110078	Leber congenital amaurosis 1		ISO	RGD:68515	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 1	PMID:25324289|PMID:25472526|PMID:25741868|PMID:28492532|PMID:29186038|PMID:29844330|PMID:30190494|PMID:32865313
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:0110188	Leber congenital amaurosis 14		ISO	RGD:68515	D	RGD:7240710	20180130	OMIM			
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:0110188	Leber congenital amaurosis 14		ISO	RGD:68515	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: LRAT-related condition | ClinVar Annotator: match by term: Leber congenital amaurosis 14 | ClinVar Annotator: match by term: RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED	PMID:11381255|PMID:17011878|PMID:22559933|PMID:22570351|PMID:24265693|PMID:25741868|PMID:27854360|PMID:28492532|PMID:34828430
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive Retinitis Pigmentosa | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:22559933|PMID:24265693|PMID:25324289|PMID:25741868|PMID:28492532|PMID:29844330|PMID:30054919|PMID:30190494|PMID:30718709
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:10608	celiac disease		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:24033266|PMID:37510321
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:5041	esophageal cancer		ISO	RGD:68515	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:630	genetic disease		ISO	RGD:68515	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:705	Leber hereditary optic neuropathy		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16250670|PMID:17011878
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:8501	fundus dystrophy		ISO	RGD:68515	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:21217109|PMID:22559933|PMID:24265693|PMID:25741868|PMID:28492532|PMID:3144818
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:9002525	Hereditary Eye Diseases		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16968212
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25226513
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:68515	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
12163222	LRAT	lecithin retinol acyltransferase	gene	DOID:9008550	Vitamin A Deficiency		ISO	RGD:68515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16174770
12163235	PHF21A	PHD finger protein 21A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1354499	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12163235	PHF21A	PHD finger protein 21A	gene	DOID:1059	intellectual disability		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12163235	PHF21A	PHD finger protein 21A	gene	DOID:10907	microcephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12163235	PHF21A	PHD finger protein 21A	gene	DOID:12849	autistic disorder		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:1324	lung cancer		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:1826	epilepsy		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12163235	PHF21A	PHD finger protein 21A	gene	DOID:1909	melanoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:4001	ovarian carcinoma		ISO	RGD:1354499	D	RGD:9068941	20221215	CTD		CTD Direct Evidence: marker/mechanism	PMID:28811376
12163235	PHF21A	PHD finger protein 21A	gene	DOID:5041	esophageal cancer		ISO	RGD:1354499	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:17576681|PMID:28492532|PMID:9536098
12163235	PHF21A	PHD finger protein 21A	gene	DOID:630	genetic disease		ISO	RGD:1354499	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9003816	Macrocephaly		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:7240710	20200226	OMIM			
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9004521	Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures		ISO	RGD:1354499	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures | ClinVar Annotator: match by term: PHF21A-related condition	PMID:22770980|PMID:25741868|PMID:28492532|PMID:2857172|PMID:30487643|PMID:31649809
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163235	PHF21A	PHD finger protein 21A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1354499	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163289	CYP27C1	cytochrome P450 family 27 subfamily C member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1605811	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12163289	CYP27C1	cytochrome P450 family 27 subfamily C member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605811	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163289	CYP27C1	cytochrome P450 family 27 subfamily C member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605811	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110440	dilated cardiomyopathy 1J		ISO	RGD:1316090	D	RGD:7240710	20180130	OMIM			
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110440	dilated cardiomyopathy 1J		ISO	RGD:1316090	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Dilated cardiomyopathy 1J | ClinVar Annotator: match by term: EYA4-related condition	PMID:11159937|PMID:16199547|PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:25961296|PMID:25963406|PMID:26084686|PMID:26969326|PMID:27662471|PMID:28492532|PMID:28767663|PMID:28831623|PMID:30123251|PMID:30165862|PMID:30245029|PMID:30311386|PMID:30368385|PMID:32107406|PMID:32277154|PMID:33745059|PMID:34426522|PMID:34956325|PMID:38808331|PMID:39271758|PMID:9536098
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110542	autosomal dominant nonsyndromic deafness 10		ISO	RGD:1316090	D	RGD:7240710	20180130	OMIM			
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:0110542	autosomal dominant nonsyndromic deafness 10		ISO	RGD:1316090	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nonsyndromic hearing loss 10 | ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 10	PMID:17576681|PMID:23861362|PMID:23990876|PMID:24033266|PMID:25681523|PMID:25741868|PMID:25781927|PMID:28492532|PMID:30165862|PMID:30192042|PMID:30245029|PMID:30311386|PMID:33301229|PMID:35802133|PMID:36633841|PMID:38808331|PMID:9536098
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1316090	D	RGD:9068941	20200609	RGD		DNA:deletion:introns, exon (human)	PMID:15735644|REF_RGD_ID:1598455
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:10754	otitis media		ISO	RGD:1316091	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:26969326|PMID:28492532|PMID:34426522
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1316090	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:10769282|PMID:15735644|PMID:17567890|PMID:24033266
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:1324	lung cancer		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:6000	congestive heart failure		ISO	RGD:1316090	D	RGD:9068941	20260521	RGD		DNA:deletion:introns, exon (human)	PMID:15735644|REF_RGD_ID:1598455
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1316090	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:17576681|PMID:25741868|PMID:28492532|PMID:31333075|PMID:31568572|PMID:9536098
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1316090	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:25741868|PMID:28492532
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1316090	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21278247
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163311	EYA4	EYA transcriptional coactivator and phosphatase 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1316090	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163355	HESX1	HESX homeobox 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:7240710	20200115	OMIM			
12163355	HESX1	HESX homeobox 1	gene	DOID:0060857	septooptic dysplasia		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: De morsier syndrome | ClinVar Annotator: match by term: HESX1-related condition | ClinVar Annotator: match by term: SEPTOOPTIC DYSPLASIA | ClinVar Annotator: match by term: Septo-optic dysplasia sequence | ClinVar Annotator: match by term: Septooptic dysplasia	PMID:11136712|PMID:18852528|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:31022718|PMID:31395954|PMID:32483926|PMID:33098107|PMID:33451138|PMID:36531499|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:0061019	combined or isolated pituitary hormone deficiency 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pituitary hormone deficiency, combined, 1	PMID:28492532
12163355	HESX1	HESX homeobox 1	gene	DOID:10907	microcephaly		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:11162	respiratory failure		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory failure	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:11383	cryptorchidism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:25741868
12163355	HESX1	HESX homeobox 1	gene	DOID:1826	epilepsy		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12163355	HESX1	HESX homeobox 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:1923	disorder of sexual development		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ambiguous genitalia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12163355	HESX1	HESX homeobox 1	gene	DOID:255	hemangioma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hemangioma	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163355	HESX1	HESX homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11136712|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:32483926|PMID:33098107|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9001820	Pulmonary Arterial Hypertension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary arterial hypertension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9002446	Combined Pituitary Hormone Deficiency 5		ISO	RGD:1353119	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES | ClinVar Annotator: match by term: Growth hormone deficiency with pituitary anomalies | ClinVar Annotator: match by term: PITUITARY HORMONE DEFICIENCY, COMBINED, 5	PMID:11136712|PMID:11748154|PMID:16199547|PMID:16940453|PMID:17148560|PMID:17315526|PMID:17576681|PMID:18852528|PMID:19093031|PMID:21270112|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:2700987|PMID:27013732|PMID:27343026|PMID:27828722|PMID:28396770|PMID:28492532|PMID:30266296|PMID:30487145|PMID:30888394|PMID:31022718|PMID:31395954|PMID:32483926|PMID:33098107|PMID:33451138|PMID:36531499|PMID:39039281|PMID:9536098|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9002802	Acidoses		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acidosis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9003503	Penis Agenesis		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micropenis	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9004507	Hirsutism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hirsutism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9006024	Hypotension		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotension	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163355	HESX1	HESX homeobox 1	gene	DOID:9007001	Bradycardia		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bradycardia	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10599689|PMID:11136712|PMID:11748154|PMID:17148560|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:34906519|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12163355	HESX1	HESX homeobox 1	gene	DOID:9406	hypopituitarism		ISO	RGD:1353119	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypopituitarism | ClinVar Annotator: match by term: Pituitary hormone deficiency	PMID:11748154|PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:25741868|PMID:25910213|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:33098107|PMID:9620767
12163355	HESX1	HESX homeobox 1	gene	DOID:9410	combined pituitary hormone deficiency		ISO	RGD:1353119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Panhypopituitarism	PMID:19093031|PMID:22145475|PMID:23465708|PMID:25500790|PMID:26873401|PMID:27000987|PMID:27828722|PMID:28492532|PMID:30266296|PMID:30487145|PMID:9620767
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:10534	stomach cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:1324	lung cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163361	ESYT3	extended synaptotagmin 3	gene	DOID:9256	colorectal cancer		ISO	RGD:1605327	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:1324	lung cancer		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:1909	melanoma		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:4362	cervical cancer		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:736349	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:6039	uveal melanoma		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736349	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11401523
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163388	SLC7A1	solute carrier family 7 member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:736349	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:18	urinary system disease		ISO	RGD:1552566	D	RGD:9068941	20220825	MouseDO			
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:4362	cervical cancer		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163424	LZTS2	leucine zipper tumor suppressor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343241	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163446	MTFR1L	mitochondrial fission regulator 1 like	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163446	MTFR1L	mitochondrial fission regulator 1 like	gene	DOID:1909	melanoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163446	MTFR1L	mitochondrial fission regulator 1 like	gene	DOID:4362	cervical cancer		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163446	MTFR1L	mitochondrial fission regulator 1 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163446	MTFR1L	mitochondrial fission regulator 1 like	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606533	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163457	MASP1	MBL associated serine protease 1	gene	DOID:0060575	3MC syndrome 1		ISO	RGD:733853	D	RGD:7240710	20180130	OMIM			
12163457	MASP1	MBL associated serine protease 1	gene	DOID:0060575	3MC syndrome 1		ISO	RGD:733853	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: 3MC SYNDROME 1 | ClinVar Annotator: match by term: 3MC syndrome 1 | ClinVar Annotator: match by term: Craniosynostosis with lid anomalies | ClinVar Annotator: match by term: MASP1-related condition | ClinVar Annotator: match by term: Michels syndrome	PMID:21035106|PMID:21258343|PMID:25741868|PMID:26789649|PMID:28492532|PMID:28794230|PMID:30601195
12163457	MASP1	MBL associated serine protease 1	gene	DOID:0060576	3MC syndrome 2		ISO	RGD:733853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
12163457	MASP1	MBL associated serine protease 1	gene	DOID:0060577	3MC syndrome 3		ISO	RGD:733853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
12163457	MASP1	MBL associated serine protease 1	gene	DOID:10123	pigmentation disease		ISO	RGD:733853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
12163457	MASP1	MBL associated serine protease 1	gene	DOID:10907	microcephaly		ISO	RGD:733853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12163457	MASP1	MBL associated serine protease 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163457	MASP1	MBL associated serine protease 1	gene	DOID:3275	thymoma		ISO	RGD:733853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163457	MASP1	MBL associated serine protease 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:28492532
12163457	MASP1	MBL associated serine protease 1	gene	DOID:630	genetic disease		ISO	RGD:733853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29168297
12163457	MASP1	MBL associated serine protease 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21258343
12163457	MASP1	MBL associated serine protease 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:733853	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163485	KLHL35	kelch like family member 35	gene	DOID:10534	stomach cancer		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163485	KLHL35	kelch like family member 35	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163485	KLHL35	kelch like family member 35	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603871	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163496	FAM199X	family with sequence similarity 199, X-linked	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163496	FAM199X	family with sequence similarity 199, X-linked	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163496	FAM199X	family with sequence similarity 199, X-linked	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348985	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:0110613	primary ciliary dyskinesia 16		ISO	RGD:1320134	D	RGD:7240710	20180130	OMIM			
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:0110613	primary ciliary dyskinesia 16		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 16, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 | ClinVar Annotator: match by term: Primary ciliary dyskinesia 16	PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:3275	thymoma		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:630	genetic disease		ISO	RGD:1320134	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320134	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163506	DNAL1	dynein axonemal light chain 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1320134	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary Ciliary Dyskinesia | ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:21496787|PMID:24033266|PMID:25741868|PMID:28492532
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:1686	glaucoma		ISO	RGD:1307386	D	RGD:9068941	20221027	RGD		mRNA:decreased expression:optic nerve head (rat)	PMID:28990066|REF_RGD_ID:155630605
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:1909	melanoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:6039	uveal melanoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12163518	GEM	GTP binding protein overexpressed in skeletal muscle	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316557	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163533	CCDC107	coiled-coil domain containing 107	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605844	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:0050742	nicotine dependence		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:15635702|REF_RGD_ID:1580461
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:0060249	scoliosis		ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: (rs10488682) (human)	PMID:18794762|REF_RGD_ID:5686347
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:0060249	scoliosis	no_association	ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter: (rs10488682) (human)	PMID:21308753|REF_RGD_ID:5686349
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:0060249	scoliosis	no_association	ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple	PMID:21192222|REF_RGD_ID:5686348
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:10534	stomach cancer		ISO	RGD:735482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:15182943|REF_RGD_ID:1580467
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:10930	borderline personality disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :multiple	PMID:16495936|REF_RGD_ID:5686357
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:missense mutations:exons:multiple	PMID:20921119|REF_RGD_ID:5686345
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-6526A>G, 218A>C (human)	PMID:16389593|REF_RGD_ID:1580457
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1574	alcohol use disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:15654285|REF_RGD_ID:1580464
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1596	depressive disorder		ISO	RGD:3895	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:hippocampus:	PMID:24495952|REF_RGD_ID:9681459
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1596	depressive disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:16165107|REF_RGD_ID:1580459
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:1596	depressive disorder		ISO	RGD:735482	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:intron:218A>C, 779A>C (human)	PMID:17134762|REF_RGD_ID:5686354
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:5419	schizophrenia		ISO	RGD:735482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18583979
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:5419	schizophrenia		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:15211625|REF_RGD_ID:1580466
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:6432	pulmonary hypertension		ISO	RGD:735482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18506000
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:6432	pulmonary hypertension	severity	ISO	RGD:735483	D	RGD:9068941	20200609	RGD			PMID:17675372|REF_RGD_ID:5686352
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9000784	Fibrosis		ISO	RGD:735483	D	RGD:9068941	20200609	RGD			PMID:21518801|REF_RGD_ID:5686344
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9001131	stress-related disorder		ISO	RGD:3895	D	RGD:9068941	20260319	RGD		protein:increased expression:dorsal raphe nucleus	PMID:12153488|REF_RGD_ID:625621
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:735482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28321044
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9478	postpartum depression		ISO	RGD:735482	D	RGD:9068941	20200609	RGD			PMID:15544576|REF_RGD_ID:1580465
12163554	TPH1	tryptophan hydroxylase 1	gene	DOID:9976	heroin dependence		ISO	RGD:736716	D	RGD:9068941	20250208	RGD		DNA:SNP: :rs1799913	PMID:18181017|REF_RGD_ID:597621691
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1348432	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:0080887	vitamin D-dependent rickets type 1B		ISO	RGD:1348432	D	RGD:7240710	20180130	OMIM			
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		associated with hypoxia; protein:decreased expression:placenta (human)	PMID:22871339|REF_RGD_ID:401901075
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10591	pre-eclampsia		ISO	RGD:1348432	D	RGD:9068941	20231207	RGD		mRNA:decreased expression:placenta (human)	PMID:32682061|PMID:36477942|REF_RGD_ID:401901078|REF_RGD_ID:401901174
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:9068941	20231116	RGD		DNA:SNP:CDS: rs12794714 (human)	PMID:34906413|REF_RGD_ID:401900724
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs10741657|rs12794714 (human)	PMID:28760944|REF_RGD_ID:401901082
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs12794714 (human)	PMID:24974252|REF_RGD_ID:401901148
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:10763	hypertension		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs1993116|rs10741657 (human)	PMID:30192652|REF_RGD_ID:401901076
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:11714	gestational diabetes		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		mRNA:decreased expression:placenta (human)	PMID:36477942|REF_RGD_ID:401901174
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:2841	asthma		ISO	RGD:1348432	D	RGD:9068941	20260205	RGD		mRNA:increased expression:peripheral blood mononuclear cell	PMID:27026514|REF_RGD_ID:632518024
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:2841	asthma	no_association	ISO	RGD:1348432	D	RGD:9068941	20260314	RGD		DNA:SNP:exon:rs12794714	PMID:21810276|REF_RGD_ID:640469349
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1348432	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs12794714	PMID:29502202|REF_RGD_ID:632517895
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1348432	D	RGD:9068941	20260205	RGD		DNA:SNP: :rs10741657	PMID:39583968|REF_RGD_ID:632518020
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:3393	coronary artery disease		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs10741657 (human)	PMID:25003556|REF_RGD_ID:401901077
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:3454	brain infarction		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:variants:CDS:multiple (human)	PMID:36762557|REF_RGD_ID:401901151
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:4248	coronary stenosis		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS: (Rs6486205|rs10741657|rs2060793)	PMID:34262949|REF_RGD_ID:401901074
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:1348432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:5844	myocardial infarction		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)	PMID:29804528|REF_RGD_ID:401901167
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:1348432	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24381012
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:9068941	20231116	RGD		DNA:SNP:CDS: rs12794714|rs10766197 (human)	PMID:34906413|REF_RGD_ID:401900724
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs12794714 (human)	PMID:31814925|REF_RGD_ID:401901168
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:9068941	20231130	RGD		DNA:SNP:CDS:rs2060793, rs1993116, rs10766197 (human)	PMID:29804528|REF_RGD_ID:401901167
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9006359	Vitamin D Deficiency		ISO	RGD:1348432	D	RGD:9068941	20260205	RGD		mRNA:increased expression:placenta	PMID:25448751|REF_RGD_ID:632518022
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1348432	D	RGD:9068941	20231116	RGD		DNA:SNP:CDS: rs12794714|rs10766197 (human)	PMID:34906413|REF_RGD_ID:401900724
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9007772	Abdominal Obesity		ISO	RGD:1348432	D	RGD:9068941	20231116	RGD		DNA:SNP:CDS: rs12794714 (human)	PMID:34906413|REF_RGD_ID:401900724
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9744	type 1 diabetes mellitus	susceptibility	ISO	RGD:1348432	D	RGD:9068941	20200609	RGD		DNA:polymorphism:intron:IVSII+1303G>A rs10741657 (human)	PMID:17607662|REF_RGD_ID:2315692
12163572	CYP2R1	cytochrome P450 family 2 subfamily R member 1	gene	DOID:9970	obesity		ISO	RGD:1348432	D	RGD:9068941	20231116	RGD		associated with hypertension:DNA:SNP:CDS: rs12794714 (human)	PMID:34906413|REF_RGD_ID:401900724
12163615	SH2D5	SH2 domain containing 5	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163615	SH2D5	SH2 domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163615	SH2D5	SH2 domain containing 5	gene	DOID:1115	sarcoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163615	SH2D5	SH2 domain containing 5	gene	DOID:5041	esophageal cancer		ISO	RGD:1602949	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163615	SH2D5	SH2 domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12163615	SH2D5	SH2 domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602949	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163657	NKG7	natural killer cell granule protein 7	gene	DOID:5041	esophageal cancer		ISO	RGD:1347836	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163657	NKG7	natural killer cell granule protein 7	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1347836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12163657	NKG7	natural killer cell granule protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347836	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163668	MIR708	microRNA mir-708	gene	DOID:10652	Alzheimer's disease		ISO	RGD:2290222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25992776
12163668	MIR708	microRNA mir-708	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:2290222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12163668	MIR708	microRNA mir-708	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:2290222	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: therapeutic	PMID:34652879
12163671	MIR424	microRNA mir-424	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1353446	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:27538595
12163671	MIR424	microRNA mir-424	gene	DOID:9000918	Disease Progression		ISO	RGD:1353446	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:27538595
12163671	MIR424	microRNA mir-424	gene	DOID:9001542	Albuminuria		ISO	RGD:1353446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24223694
12163724	TMC2	transmembrane channel like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163724	TMC2	transmembrane channel like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1320766	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163724	TMC2	transmembrane channel like 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163724	TMC2	transmembrane channel like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163724	TMC2	transmembrane channel like 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163724	TMC2	transmembrane channel like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163724	TMC2	transmembrane channel like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163724	TMC2	transmembrane channel like 2	gene	DOID:9256	colorectal cancer		ISO	RGD:1320766	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12163746	CENPN	centromere protein N	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163772	KLHL28	kelch like family member 28	gene	DOID:1324	lung cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163772	KLHL28	kelch like family member 28	gene	DOID:1909	melanoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163772	KLHL28	kelch like family member 28	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12163772	KLHL28	kelch like family member 28	gene	DOID:4362	cervical cancer		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163772	KLHL28	kelch like family member 28	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12163772	KLHL28	kelch like family member 28	gene	DOID:5041	esophageal cancer		ISO	RGD:1322718	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163772	KLHL28	kelch like family member 28	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163772	KLHL28	kelch like family member 28	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322718	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163795	ANKRD45	ankyrin repeat domain 45	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1606657	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163795	ANKRD45	ankyrin repeat domain 45	gene	DOID:1909	melanoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163795	ANKRD45	ankyrin repeat domain 45	gene	DOID:3275	thymoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163795	ANKRD45	ankyrin repeat domain 45	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1606657	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:69155	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:14744773|REF_RGD_ID:2290436
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:0080600	COVID-19		ISO	RGD:69155	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:1073	renal hypertension		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney medulla	PMID:12923405|REF_RGD_ID:1302333
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:1380	endometrial cancer		ISO	RGD:69155	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:endometrium	PMID:15273280|REF_RGD_ID:2290435
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:2154	nephroblastoma		ISO	RGD:69155	D	RGD:9068941	20200609	RGD			PMID:11466614|REF_RGD_ID:2290439
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:2871	endometrial carcinoma	disease_progression	ISO	RGD:69155	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:12798711|REF_RGD_ID:2290420
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:4001	ovarian carcinoma	disease_progression	ISO	RGD:69155	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:17009974|REF_RGD_ID:2290414
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:4362	cervical cancer	disease_progression	ISO	RGD:69155	D	RGD:9068941	20200609	RGD		mRNA:increased expression:uterine cervix	PMID:15816637|REF_RGD_ID:2290434
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:4450	renal cell carcinoma		ISO	RGD:69155	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:11576837|REF_RGD_ID:2290421
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:6000	congestive heart failure		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		protein:decreased expression:aorta (rat)	PMID:15238617|REF_RGD_ID:1302825
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:69155	D	RGD:9068941	20200609	RGD			PMID:16940965|REF_RGD_ID:2290433
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69155	D	RGD:9068941	20200609	RGD		associated with Breast Neoplasms;mRNA:increased expression:breast	PMID:12828172|REF_RGD_ID:2290437
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:carotid artery	PMID:10082471|REF_RGD_ID:2290470
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69155	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:69155	D	RGD:9068941	20200609	RGD			PMID:16940965|REF_RGD_ID:2290433
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69077	D	RGD:9068941	20200609	RGD			PMID:12483743|REF_RGD_ID:2290463
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9003936	Cardiomegaly		ISO	RGD:69077	D	RGD:9068941	20200609	RGD			PMID:10067796|REF_RGD_ID:2290471
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		protein:decreased expression:ileal vein	PMID:17398390|REF_RGD_ID:1642040
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69077	D	RGD:9068941	20200609	RGD		protein:increased expression:blood	PMID:12707244|REF_RGD_ID:2290461
12163814	TIMP4	TIMP metallopeptidase inhibitor 4	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:69155	D	RGD:9068941	20200609	RGD			PMID:9190892|REF_RGD_ID:2290455
12163823	SYNPO2L	synaptopodin 2 like	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1348800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12163823	SYNPO2L	synaptopodin 2 like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348800	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	PMID:28492532
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:0110339	osteogenesis imperfecta type 3		ISO	RGD:1605441	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta type III	PMID:25741868
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:0110342	osteogenesis imperfecta type 13		ISO	RGD:1605441	D	RGD:7240710	20180130	OMIM			
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:0110342	osteogenesis imperfecta type 13		ISO	RGD:1605441	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BMP1-related condition | ClinVar Annotator: match by term: OSTEOGENESIS IMPERFECTA, TYPE XIII | ClinVar Annotator: match by term: Osteogenesis imperfecta type 13 | ClinVar Annotator: match by term: Osteogenesis imperfecta, type xiii | ClinVar Annotator: match by term: osteogenesis imperfecta type 13	PMID:17576681|PMID:22052668|PMID:25402547|PMID:25741868|PMID:28492532|PMID:30220433|PMID:30719581|PMID:35703132|PMID:37813462|PMID:9536098
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1605441	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive	PMID:24033266|PMID:25741868
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1605441	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Lobstein disease | ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:22482805|PMID:24033266|PMID:24091809|PMID:24648371|PMID:25656619|PMID:25741868|PMID:27576954|PMID:28492532|PMID:29499418|PMID:30719581
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1605441	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Osteogenesis Imperfecta, Recessive | ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:25656619|PMID:25741868|PMID:27576954|PMID:28492532|PMID:30719581|PMID:35703132
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:12347	osteogenesis imperfecta		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Osteogenesis imperfecta	PMID:22482805|PMID:24091809|PMID:25741868|PMID:28492532|PMID:29499418|PMID:30719581
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:1909	melanoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:3275	thymoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605441	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:630	genetic disease		ISO	RGD:1605441	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:1551822	D	RGD:9068941	20210611	RGD		mRNA:increased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163834	BMP1	bone morphogenetic protein 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605441	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1346916	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1346916	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163884	CXADR	CXADR Ig-like cell adhesion molecule	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346916	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:1115	sarcoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:1909	melanoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:3275	thymoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:4362	cervical cancer		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1605641	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605641	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163902	GPBP1L1	GC-rich promoter binding protein 1 like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1605641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:10534	stomach cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:1115	sarcoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:1324	lung cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:2394	ovarian cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:4362	cervical cancer		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163923	RMND5A	required for meiotic nuclear division 5 homolog A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604311	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163942	ALDH8A1	aldehyde dehydrogenase 8 family member A1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163942	ALDH8A1	aldehyde dehydrogenase 8 family member A1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12163942	ALDH8A1	aldehyde dehydrogenase 8 family member A1	gene	DOID:13580	cholestasis		ISO	RGD:1319646	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27989131
12163942	ALDH8A1	aldehyde dehydrogenase 8 family member A1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319646	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:0060787	hypomyelinating leukodystrophy 2		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypomyelinating leukodystrophy 2	PMID:10699052|PMID:11854167|PMID:15505393|PMID:16602100|PMID:17622945|PMID:25741868|PMID:28302372|PMID:28492532|PMID:33578440|PMID:34504725|PMID:8900227
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318826	D	RGD:7240710	20180130	OMIM			
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:0111254	glutaric acidemia I		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: GLUTARIC ACIDEMIA I | ClinVar Annotator: match by term: Glutaric acidemia I | ClinVar Annotator: match by term: Glutaric acidemia type 1 | ClinVar Annotator: match by term: Glutaric acidemia type I | ClinVar Annotator: match by term: Glutaric aciduria, type 1	PMID:10066389|PMID:10649503|PMID:10699052|PMID:10960496|PMID:11015709|PMID:11024031|PMID:11058907|PMID:11073722|PMID:11174631|PMID:11508549|PMID:11854167|PMID:12199454|PMID:12210585|PMID:12473778|PMID:12948740|PMID:14691600|PMID:14707522|PMID:15318278|PMID:15505393|PMID:15505400|PMID:15573311|PMID:15954035|PMID:16183314|PMID:16183823|PMID:16199547|PMID:16377226|PMID:16466958|PMID:16488172|PMID:16602100|PMID:16641220|PMID:17188916|PMID:17576681|PMID:17622945|PMID:17642054|PMID:17661081|PMID:18285246|PMID:18304851|PMID:18411069|PMID:18459892|PMID:18683078|PMID:18775954|PMID:19167251|PMID:19433275|PMID:19433437|PMID:20084589|PMID:20514322|PMID:20732827|PMID:20836999|PMID:20960650|PMID:20978942|PMID:21031586|PMID:21176883|PMID:21228398|PMID:21811973|PMID:21820344|PMID:21912879|PMID:22106832|PMID:22231382|PMID:22728054|PMID:22771013|PMID:23104440|PMID:23225040|PMID:23395213|PMID:23884036|PMID:24332224|PMID:24795062|PMID:24973495|PMID:25087612|PMID:25190159|PMID:25204480|PMID:25255367|PMID:25256449|PMID:25590979|PMID:25741868|PMID:25762492|PMID:25863083|PMID:26071121|PMID:26316201|PMID:26589311|PMID:26656312|PMID:26674492|PMID:26847429|PMID:27351573|PMID:27397597|PMID:27476540|PMID:27629047|PMID:27672653|PMID:27848944|PMID:27896087|PMID:28062662|PMID:28143689|PMID:28302372|PMID:28352331|PMID:28389991|PMID:28411331|PMID:28438223|PMID:28492532|PMID:28781846|PMID:28794906|PMID:28991257|PMID:29034175|PMID:29068549|PMID:29086383|PMID:29111448|PMID:29201125|PMID:29292490|PMID:29335023|PMID:29419857|PMID:29458885|PMID:29555771|PMID:29665094|PMID:30203563|PMID:30217722|PMID:30298489|PMID:30512148|PMID:30570710|PMID:30838026|PMID:30838298|PMID:30904546|PMID:31062211|PMID:31130284|PMID:31302874|PMID:31319225|PMID:31491587|PMID:31515781|PMID:31589614|PMID:31737040|PMID:31788423|PMID:31893530|PMID:31952437|PMID:32005694|PMID:32240488|PMID:32508882|PMID:32777384|PMID:32778825|PMID:32992790|PMID:33015233|PMID:33064266|PMID:33123633|PMID:33138774|PMID:33578440|PMID:33728242|PMID:33965309|PMID:34012862|PMID:34207159|PMID:34302356|PMID:34306040|PMID:34344405|PMID:34394177|PMID:34490048|PMID:34504725|PMID:34512980|PMID:34517439|PMID:34964964|PMID:35281663|PMID:35367405|PMID:35662016|PMID:35822093|PMID:36544340|PMID:36906724|PMID:36913764|PMID:37020324|PMID:37078465|PMID:37317575|PMID:37597066|PMID:37685964|PMID:38137040|PMID:38374498|PMID:38495240|PMID:38582244|PMID:38703036|PMID:38924972|PMID:39519275|PMID:39670100|PMID:40361251|PMID:40517577|PMID:6377226|PMID:7795610|PMID:8541831|PMID:8900227|PMID:8900228|PMID:9266361|PMID:9536098|PMID:9600243|PMID:9711871|PMID:9856558|PMID:9881681
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:0111400	congenital dyserythropoietic anemia type IVa		ISO	RGD:8556622	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN	PMID:11825066|PMID:17576681|PMID:25741868|PMID:28492532|PMID:31536184|PMID:7795610|PMID:9536098
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:1059	intellectual disability		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:1115	sarcoma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:1324	lung cancer		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:1826	epilepsy		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:31319225
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:1909	melanoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Melanoma	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:3070	high grade glioma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:630	genetic disease		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37020324
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318826	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:10649503|PMID:10699052|PMID:10960496|PMID:11073722|PMID:18775954|PMID:20732827|PMID:24973495|PMID:25256449|PMID:25741868|PMID:25762492|PMID:28062662|PMID:28352331|PMID:28438223|PMID:28492532|PMID:28794906|PMID:30570710|PMID:31062211|PMID:31319225|PMID:33965309|PMID:34504725|PMID:8900227|PMID:9600243
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:16377226|PMID:20514322|PMID:21176883|PMID:25741868|PMID:26656312|PMID:28143689|PMID:28389991|PMID:28492532|PMID:31319225|PMID:6377226|PMID:9711871
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318826	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:9009132	Glutaric Aciduria		ISO	RGD:1318826	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Glutaric aciduria	PMID:25741868|PMID:28492532
12163964	GCDH	glutaryl-CoA dehydrogenase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318826	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:10534	stomach cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:1115	sarcoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:1324	lung cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:3070	high grade glioma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:4362	cervical cancer		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12163980	TUBGCP3	tubulin gamma complex component 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313927	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164006	SP100	SP100 nuclear antigen	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:0060058	lymphoma		ISO	RGD:1348100	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:10534	stomach cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164006	SP100	SP100 nuclear antigen	gene	DOID:1115	sarcoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:1324	lung cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164006	SP100	SP100 nuclear antigen	gene	DOID:1612	breast cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: breast cancer	PMID:25741868
12164006	SP100	SP100 nuclear antigen	gene	DOID:1909	melanoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:2394	ovarian cancer		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12164006	SP100	SP100 nuclear antigen	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12164006	SP100	SP100 nuclear antigen	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:5041	esophageal cancer		ISO	RGD:1348100	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164006	SP100	SP100 nuclear antigen	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12164006	SP100	SP100 nuclear antigen	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164006	SP100	SP100 nuclear antigen	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1348100	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23437403
12164054	LDHB	lactate dehydrogenase B	gene	DOID:10534	stomach cancer		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:4362	cervical cancer		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108329
12164054	LDHB	lactate dehydrogenase B	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:655	inherited metabolic disorder		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:2334429
12164054	LDHB	lactate dehydrogenase B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17566973
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9002868	Lactate Dehydrogenase B Deficiency		ISO	RGD:735463	D	RGD:7240710	20180130	OMIM			
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9002868	Lactate Dehydrogenase B Deficiency		ISO	RGD:735463	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | ClinVar Annotator: match by term: LACTATE DEHYDROGENASE B DEFICIENCY | ClinVar Annotator: match by term: LDHB-related condition	PMID:25741868|PMID:28492532
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15048980
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9008520	Chronic Pain		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic pain	PMID:25741868
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:735463	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23437403
12164054	LDHB	lactate dehydrogenase B	gene	DOID:9256	colorectal cancer		ISO	RGD:735463	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12164066	ADPGK	ADP dependent glucokinase	gene	DOID:1115	sarcoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164066	ADPGK	ADP dependent glucokinase	gene	DOID:1909	melanoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164066	ADPGK	ADP dependent glucokinase	gene	DOID:4362	cervical cancer		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164066	ADPGK	ADP dependent glucokinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164066	ADPGK	ADP dependent glucokinase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353628	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164079	ETNPPL	ethanolamine-phosphate phospho-lyase	gene	DOID:1115	sarcoma		ISO	RGD:1350227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164079	ETNPPL	ethanolamine-phosphate phospho-lyase	gene	DOID:3070	high grade glioma		ISO	RGD:1350227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12164079	ETNPPL	ethanolamine-phosphate phospho-lyase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1350227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164079	ETNPPL	ethanolamine-phosphate phospho-lyase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350227	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:10534	stomach cancer		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164095	ATP13A3	ATPase 13A3	gene	DOID:1115	sarcoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:3070	high grade glioma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12164095	ATP13A3	ATPase 13A3	gene	DOID:3275	thymoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:4362	cervical cancer		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164095	ATP13A3	ATPase 13A3	gene	DOID:5041	esophageal cancer		ISO	RGD:1353842	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164095	ATP13A3	ATPase 13A3	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164095	ATP13A3	ATPase 13A3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12164095	ATP13A3	ATPase 13A3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164095	ATP13A3	ATPase 13A3	gene	DOID:9007822	primary pulmonary hypertension 5		ISO	RGD:1353842	D	RGD:7240710	20220608	OMIM			
12164095	ATP13A3	ATPase 13A3	gene	DOID:9007822	primary pulmonary hypertension 5		ISO	RGD:1353842	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ATP13A3-related condition | ClinVar Annotator: match by term: PULMONARY HYPERTENSION, PRIMARY, 5 | ClinVar Annotator: match by term: Pulmonary hypertension, primary, 5	PMID:25741868|PMID:28492532|PMID:29650961|PMID:31727138|PMID:34493544|PMID:35204766
12164095	ATP13A3	ATPase 13A3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164095	ATP13A3	ATPase 13A3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1353842	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164153	IRAK1BP1	interleukin 1 receptor associated kinase 1 binding protein 1	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:1312787	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24097067
12164153	IRAK1BP1	interleukin 1 receptor associated kinase 1 binding protein 1	gene	DOID:9000949	DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES		ISO	RGD:15151227|RGD:155909985|RGD:155917711|RGD:155941657|RGD:155946743|RGD:155994000|RGD:156001386|RGD:156086774|RGD:156086800|RGD:156113993|RGD:156168282|RGD:156199250|RGD:156199284|RGD:156206084|RGD:156218440|RGD:156223036|RGD:156223204|RGD:156256772|RGD:156268314|RGD:156279616|RGD:156285069|RGD:156310091|RGD:156311384|RGD:156313510|RGD:156356438|RGD:156374182|RGD:156390259|RGD:156398887|RGD:156412232|RGD:156434275|RGD:401920707|RGD:402468189|RGD:402487821|RGD:402506967|RGD:404986306|RGD:405062539|RGD:405122933|RGD:405123442|RGD:405123801|RGD:405219665|RGD:405237749|RGD:405246767|RGD:405254476|RGD:408368305|RGD:408368324|RGD:408368355|RGD:408368502|RGD:408368632|RGD:408368865|RGD:408369028|RGD:408378350	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM | ClinVar Annotator: match by term: PHIP-related disorder	PMID:28492532
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:0060058	lymphoma		ISO	RGD:1342946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1342946	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:1909	melanoma		ISO	RGD:1342946	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:4362	cervical cancer		ISO	RGD:1342946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1342946	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164168	ZHX2	zinc fingers and homeoboxes 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342946	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:7240710	20190315	OMIM			
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:0080427	developmental and epileptic encephalopathy 40		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 40 | ClinVar Annotator: match by term: GUF1-related condition	PMID:25741868|PMID:28492532|PMID:30945278
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:10534	stomach cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:1115	sarcoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:1324	lung cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:1909	melanoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:2843	long QT syndrome		ISO	RGD:1602319	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:3070	high grade glioma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:4362	cervical cancer		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164179	GUF1	GTP binding elongation factor GUF1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602319	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:28492532
12164204	TEC	tec protein tyrosine kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:1909	melanoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:3275	thymoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:4362	cervical cancer		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:5041	esophageal cancer		ISO	RGD:732236	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164204	TEC	tec protein tyrosine kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:732236	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12164226	ZACN	zinc activated ion channel	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164226	ZACN	zinc activated ion channel	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604695	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164237	GLYCTK	glycerate kinase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164237	GLYCTK	glycerate kinase	gene	DOID:0111626	D-glyceric aciduria		ISO	RGD:1604750	D	RGD:7240710	20180130	OMIM			
12164237	GLYCTK	glycerate kinase	gene	DOID:0111626	D-glyceric aciduria		ISO	RGD:1604750	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: D-GLYCERIC ACIDURIA | ClinVar Annotator: match by term: D-Glyceric aciduria | ClinVar Annotator: match by term: Deficiency of glycerate kinase | ClinVar Annotator: match by term: GLYCTK-related condition	PMID:20949620|PMID:25741868|PMID:28492532|PMID:29695758
12164237	GLYCTK	glycerate kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:25741868|PMID:28492532
12164237	GLYCTK	glycerate kinase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164237	GLYCTK	glycerate kinase	gene	DOID:2394	ovarian cancer		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12164237	GLYCTK	glycerate kinase	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164237	GLYCTK	glycerate kinase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164237	GLYCTK	glycerate kinase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164237	GLYCTK	glycerate kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164237	GLYCTK	glycerate kinase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164237	GLYCTK	glycerate kinase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604750	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:10534	stomach cancer		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:1115	sarcoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:1909	melanoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1607028	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164254	VSIG10	V-set and immunoglobulin domain containing 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1607028	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164273	TUBA8	tubulin alpha 8	gene	DOID:0060058	lymphoma		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12164273	TUBA8	tubulin alpha 8	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1352677	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12164273	TUBA8	tubulin alpha 8	gene	DOID:0060337	CEDNIK syndrome		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CEDNIK syndrome	PMID:18414213|PMID:25741868|PMID:28492532|PMID:34853893
12164273	TUBA8	tubulin alpha 8	gene	DOID:0060995	autosomal dominant isolated macrothrombocytopenia 2		ISO	RGD:1352677	D	RGD:7240710	20220504	OMIM			
12164273	TUBA8	tubulin alpha 8	gene	DOID:0060995	autosomal dominant isolated macrothrombocytopenia 2		ISO	RGD:1352677	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MACROTHROMBOCYTOPENIA, ISOLATED, 2, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Macrothrombocytopenia, isolated, 2, autosomal dominant | ClinVar Annotator: match by term: TUBA8-related condition	PMID:18414213|PMID:25741868|PMID:26467025|PMID:28492532|PMID:34704371
12164273	TUBA8	tubulin alpha 8	gene	DOID:10907	microcephaly		ISO	RGD:1352677	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532|PMID:31481326
12164273	TUBA8	tubulin alpha 8	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1352677	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
12164273	TUBA8	tubulin alpha 8	gene	DOID:1324	lung cancer		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164273	TUBA8	tubulin alpha 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1352677	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164273	TUBA8	tubulin alpha 8	gene	DOID:9006626	Parkinson's Disease 5		ISO	RGD:1352677	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Parkinson disease 5, autosomal dominant, susceptibility to	
12164273	TUBA8	tubulin alpha 8	gene	DOID:9006775	Polymicrogyria with Optic Nerve Hypoplasia		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polymicrogyria with optic nerve hypoplasia	PMID:18414213|PMID:25741868|PMID:28492532|PMID:34853893|PMID:38374194
12164273	TUBA8	tubulin alpha 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352677	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164283	CGNL1	cingulin like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164283	CGNL1	cingulin like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164283	CGNL1	cingulin like 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1353387	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12164283	CGNL1	cingulin like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164283	CGNL1	cingulin like 1	gene	DOID:1324	lung cancer		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164283	CGNL1	cingulin like 1	gene	DOID:1909	melanoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164283	CGNL1	cingulin like 1	gene	DOID:3275	thymoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164283	CGNL1	cingulin like 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12164283	CGNL1	cingulin like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164283	CGNL1	cingulin like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164283	CGNL1	cingulin like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164283	CGNL1	cingulin like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353387	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial | ClinVar Annotator: match by term: Familial cancer of breast	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732493	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25363760|PMID:25363768|PMID:25741868|PMID:27824329
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:10485	esophageal atresia		ISO	RGD:732493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Esophageal atresia	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:732493	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:10534	stomach cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:1059	intellectual disability		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Attention deficit hyperactivity disorder	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:1115	sarcoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:12849	autistic disorder		ISO	RGD:732493	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior | ClinVar Annotator: match by term: Autistic disorder of childhood onset	PMID:25418537|PMID:25741868|PMID:28191889|PMID:28600779|PMID:30564305|PMID:34253863
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:1324	lung cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:1909	melanoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:2303	stereotypic movement disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Stereotypic movement disorder	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:2468	psychotic disorder		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:2841	asthma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:303	substance-related disorder		ISO	RGD:732493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:3138	acanthosis nigricans		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:4362	cervical cancer		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:4428	dyslexia		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dyslexia	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:732493	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:630	genetic disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:6364	migraine		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Migraine	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:6543	acne		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acne	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9000053	Headache		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Headache	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9001224	Striae Distensae		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Striae distensae	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9001581	Constipation		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Constipation	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9003133	Hypertelorism		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9003816	Macrocephaly		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macrocephaly	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732493	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9004576	Sleep Initiation and Maintenance Disorders		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insomnia	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9004956	Nocturnal Enuresis		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nocturnal enuresis	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9005369	Hepatomegaly		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9008797	Facial Asymmetry		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Facial asymmetry	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9452	steatotic liver disease		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:28191889
12164314	DSCAM	DS cell adhesion molecule	gene	DOID:9970	obesity		ISO	RGD:732493	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28191889
12164349	CASP10	caspase 10	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1347736	D	RGD:7240710	20180130	OMIM			
12164349	CASP10	caspase 10	gene	DOID:0060060	non-Hodgkin lymphoma		ISO	RGD:1347736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphoma, non-Hodgkin, familial | ClinVar Annotator: match by term: Non-Hodgkin lymphoma	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:0080684	diffuse midline glioma, H3 K27-altered		ISO	RGD:1347736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Diffuse midline glioma, H3 K27-altered	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:0110115	autoimmune lymphoproliferative syndrome type 2A		ISO	RGD:1347736	D	RGD:7240710	20180130	OMIM			
12164349	CASP10	caspase 10	gene	DOID:0110115	autoimmune lymphoproliferative syndrome type 2A		ISO	RGD:1347736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA | ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 2A | ClinVar Annotator: match by term: autoimmune lymphoproliferative syndrome type 2A	PMID:10412980|PMID:16199547|PMID:16446975|PMID:17576681|PMID:17999750|PMID:21382177|PMID:24033266|PMID:25640679|PMID:25741868|PMID:26323380|PMID:27799292|PMID:28492532|PMID:31309545|PMID:9536098
12164349	CASP10	caspase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1347736	D	RGD:7240710	20220209	OMIM			
12164349	CASP10	caspase 10	gene	DOID:10534	stomach cancer		ISO	RGD:1347736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:1115	sarcoma		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:1324	lung cancer		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:1909	melanoma		ISO	RGD:1347736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563783
12164349	CASP10	caspase 10	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:3275	thymoma		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164349	CASP10	caspase 10	gene	DOID:4362	cervical cancer		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:5041	esophageal cancer		ISO	RGD:1347736	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:552	pneumonia		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:25741868|PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164349	CASP10	caspase 10	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:1347736	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Autoimmune lymphoproliferative syndrome type 1, autosomal dominant	PMID:11973654|PMID:25741868|PMID:27577878|PMID:27872624|PMID:28492532|PMID:34329798
12164349	CASP10	caspase 10	gene	DOID:6688	autoimmune lymphoproliferative syndrome		ISO	RGD:1347736	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT	PMID:28492532
12164349	CASP10	caspase 10	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1347736	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Neoplasm of stomach	PMID:25741868
12164349	CASP10	caspase 10	gene	DOID:9004464	Skin Neoplasms		ISO	RGD:1347736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18563783
12164349	CASP10	caspase 10	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164349	CASP10	caspase 10	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347736	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12164361	SIX4	SIX homeobox 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164361	SIX4	SIX homeobox 4	gene	DOID:10534	stomach cancer		ISO	RGD:1315508	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164361	SIX4	SIX homeobox 4	gene	DOID:1324	lung cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164361	SIX4	SIX homeobox 4	gene	DOID:1909	melanoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164361	SIX4	SIX homeobox 4	gene	DOID:4362	cervical cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164361	SIX4	SIX homeobox 4	gene	DOID:5041	esophageal cancer		ISO	RGD:1315508	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164361	SIX4	SIX homeobox 4	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164361	SIX4	SIX homeobox 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164361	SIX4	SIX homeobox 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164361	SIX4	SIX homeobox 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164361	SIX4	SIX homeobox 4	gene	DOID:9256	colorectal cancer		ISO	RGD:1315508	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:0061157	retinopathy-sensory neuropathy syndrome		ISO	RGD:1352163	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: RETINOPATHY-SENSORY NEUROPATHY SYNDROME	PMID:25741868|PMID:28492532
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:0080600	COVID-19		ISO	RGD:1352163	D	RGD:9068941	20200613	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		ISO	RGD:1352163	D	RGD:7240710	20180130	OMIM			
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:0111666	proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		ISO	RGD:1352163	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: FLVCR2-related condition | ClinVar Annotator: match by term: Fowler syndrome | ClinVar Annotator: match by term: PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME | ClinVar Annotator: match by term: Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	PMID:20206334|PMID:20690116|PMID:25677735|PMID:25741868|PMID:28492532|PMID:32333401|PMID:32369449|PMID:38302740
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:10534	stomach cancer		ISO	RGD:1352163	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:1909	melanoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:4362	cervical cancer		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164372	FLVCR2	FLVCR heme transporter 2	gene	DOID:630	genetic disease		ISO	RGD:1352163	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:0080016	spina bifida		ISO	RGD:1593621	D	RGD:9068941	20200609	RGD			PMID:20515739|REF_RGD_ID:9491842
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:0080878	IDH-wildtype glioblastoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: IDH-wildtype glioblastoma	PMID:15225548|PMID:15385962|PMID:24120142|PMID:25119042|PMID:25240281|PMID:27993330|PMID:33723438|PMID:34692515
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:1115	sarcoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:1324	lung cancer		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:1909	melanoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:3068	glioblastoma		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:3070	high grade glioma		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:3192	neurilemmoma		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:3307	teratoma		ISO	RGD:1344509	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Teratoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1344509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1344509	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:5940	malignant peripheral nerve sheath tumor		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant peripheral nerve sheath tumor	PMID:25119042|PMID:25240281|PMID:25305755|PMID:27993330|PMID:29118384
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:6039	uveal melanoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:630	genetic disease		ISO	RGD:1344509	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:657	adenoma		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9001800	Imagawa-Matsumoto Syndrome		ISO	RGD:1344509	D	RGD:7240710	20200318	OMIM			
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9001800	Imagawa-Matsumoto Syndrome		ISO	RGD:1344509	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: IMAGAWA-MATSUMOTO SYNDROME | ClinVar Annotator: match by term: Imagawa-Matsumoto syndrome | ClinVar Annotator: match by term: SUZ12-related condition	PMID:25741868|PMID:28492532|PMID:30019515|PMID:31736240|PMID:36645289
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9004217	Nerve Sheath Neoplasms		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25240281|PMID:25305755
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344509	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9005120	Pigmented Nevus		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9006223	Kidney Reperfusion Injury		ISO	RGD:1619223	D	RGD:9068941	20221103	RGD		mRNA:altered expression:kidney (mouse)	PMID:18467665|REF_RGD_ID:155631277
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18264096
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9008582	Developmental Disease		ISO	RGD:1344509	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1344509	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164392	SUZ12	SUZ12 polycomb repressive complex 2 subunit	gene	DOID:962	neurofibroma		ISO	RGD:1344509	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25119042
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1313822	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:10534	stomach cancer		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:4362	cervical cancer		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164417	FBXW5	F-box and WD repeat domain containing 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1313822	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164433	CD93	CD93 molecule	gene	DOID:3963	thyroid gland carcinoma	treatment	ISO	RGD:1351917	D	RGD:9068941	20220310	RGD			PMID:32626543|REF_RGD_ID:151665104
12164433	CD93	CD93 molecule	gene	DOID:5041	esophageal cancer		ISO	RGD:1351917	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164433	CD93	CD93 molecule	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351917	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:1909	melanoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:3275	thymoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:4362	cervical cancer		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164439	CHMP7	charged multivesicular body protein 7	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1602310	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:10534	stomach cancer		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:1115	sarcoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:4362	cervical cancer		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12164453	ANKRD13A	ankyrin repeat domain 13A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318431	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164472	POU4F1	POU class 4 homeobox 1	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:1346307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21928122
12164472	POU4F1	POU class 4 homeobox 1	gene	DOID:9006096	Uterine Cervical Dysplasia		ISO	RGD:1346307	D	RGD:9068941	20250417	CTD		CTD Direct Evidence: marker/mechanism	PMID:20190800
12164472	POU4F1	POU class 4 homeobox 1	gene	DOID:9006671	ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET		ISO	RGD:1346307	D	RGD:7240710	20210811	OMIM			
12164472	POU4F1	POU class 4 homeobox 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346307	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18206229
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:0080016	spina bifida		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spinal dysraphism	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:0080204	renal hypoplasia		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal hypoplasia	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Bilateral sensorineural hearing impairment | ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:10534	stomach cancer		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1059	intellectual disability		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:12858	Huntington's disease		ISO	RGD:71071	D	RGD:9068941	20200609	RGD			PMID:2527078|REF_RGD_ID:13524507
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1324	lung cancer		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1882	atrial heart septal defect		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:731776	D	RGD:9068941	20230413	RGD		Ldlr knockout mouse	PMID:31589306|REF_RGD_ID:243065123
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:5419	schizophrenia		ISO	RGD:731775	D	RGD:9068941	20200609	RGD		protein:decreased activity:brain:	PMID:21036897|REF_RGD_ID:13513905
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:557	kidney disease		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Renal dysplasia	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:731776	D	RGD:9068941	20230413	RGD		Ldlr knockout mouse	PMID:31589306|REF_RGD_ID:243065123
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9005044	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1		ISO	RGD:731775	D	RGD:7240710	20190315	OMIM			
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9005044	Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1		ISO	RGD:731775	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CONGENITAL NAD DEFICIENCY DISORDER 1 | ClinVar Annotator: match by term: HAAO-related disorder | ClinVar Annotator: match by term: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1 | ClinVar Annotator: match by term: Vertebral, cardiac, renal, and limb defects syndrome 1	PMID:25741868|PMID:28792876|PMID:33942433
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9007152	Talipes		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Talipes	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9007661	Dwarfism		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9620	vesicoureteral reflux		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vesicoureteral reflux	PMID:25741868|PMID:28792876
12164479	HAAO	3-hydroxyanthranilate 3,4-dioxygenase	gene	DOID:9955	hypoplastic left heart syndrome		ISO	RGD:731775	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypoplastic left heart syndrome	PMID:25741868|PMID:28792876
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351527	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1351527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:733763	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12164501	CYP2F1	cytochrome P450 family 2 subfamily F member 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351527	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164519	RGS9BP	regulator of G protein signaling 9 binding protein	gene	DOID:0050335	bradyopsia		ISO	RGD:1601793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRADYOPSIA | ClinVar Annotator: match by term: Bradyopsia	PMID:25741868|PMID:28492532|PMID:31589614
12164519	RGS9BP	regulator of G protein signaling 9 binding protein	gene	DOID:0070364	bradyopsia 2		ISO	RGD:1601793	D	RGD:7240710	20230505	OMIM			
12164519	RGS9BP	regulator of G protein signaling 9 binding protein	gene	DOID:0070364	bradyopsia 2		ISO	RGD:1601793	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION 2 | ClinVar Annotator: match by term: Prolonged electroretinal response suppression 2 | ClinVar Annotator: match by term: RGS9BP-related condition	PMID:25741868|PMID:28492532
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:10534	stomach cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164524	PPP4R3A	protein phosphatase 4 regulatory subunit 3A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319189	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:0060326	myelomeningocele		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:0080073	spina bifida occulta		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spina bifida occulta	PMID:25741868
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:10534	stomach cancer		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:1115	sarcoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:13938	amenorrhea		ISO	RGD:68616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21455586
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:3275	thymoma		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:5041	esophageal cancer		ISO	RGD:68616	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26401016
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15674352
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:68616	D	RGD:9068941	20200806	CTD		CTD Direct Evidence: marker/mechanism	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:7240710	20200226	OMIM			
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition	PMID:25741868|PMID:28492532
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: DLC1-related condition	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 1 | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
12164649	DLC1	DLC1 Rho GTPase activating protein	gene	DOID:9256	colorectal cancer		ISO	RGD:68616	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 12q24 | ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 12 | ClinVar Annotator: match by term: DLC1-related condition | ClinVar Annotator: match by term: Familial colorectal cancer | ClinVar Annotator: match by term: Malignant Colorectal Neoplasm	PMID:10649492|PMID:17576681|PMID:24587289|PMID:25741868|PMID:28106320|PMID:28492532|PMID:9536098
12164676	OLA1	Obg like ATPase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164676	OLA1	Obg like ATPase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604016	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12164676	OLA1	Obg like ATPase 1	gene	DOID:10283	prostate cancer		ISO	RGD:1604016	D	RGD:8554872	20250708	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12164676	OLA1	Obg like ATPase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164676	OLA1	Obg like ATPase 1	gene	DOID:1115	sarcoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164676	OLA1	Obg like ATPase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164676	OLA1	Obg like ATPase 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1604016	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164676	OLA1	Obg like ATPase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164676	OLA1	Obg like ATPase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164676	OLA1	Obg like ATPase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164676	OLA1	Obg like ATPase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164676	OLA1	Obg like ATPase 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604016	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0060058	lymphoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112068	nuclear type mitochondrial complex I deficiency 5		ISO	RGD:1350002	D	RGD:7240710	20190315	OMIM			
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112068	nuclear type mitochondrial complex I deficiency 5		ISO	RGD:1350002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5 | ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 5 | ClinVar Annotator: match by term: NDUFS1-related condition	PMID:11349233|PMID:16199547|PMID:17576681|PMID:20382551|PMID:20819849|PMID:21203893|PMID:22142868|PMID:22200994|PMID:22310368|PMID:22972949|PMID:25615419|PMID:25741868|PMID:28492532|PMID:31589614|PMID:33547378|PMID:34716721|PMID:36042640|PMID:36918699|PMID:38129218|PMID:38703036|PMID:39118480|PMID:9536098
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:1350002	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:11349233|PMID:22200994|PMID:25741868|PMID:28492532|PMID:31178897
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:10534	stomach cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1115	sarcoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1350002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9527842
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1324	lung cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:14330	Parkinson's disease	onset	ISO	RGD:1551403	D	RGD:9068941	20200609	RGD		protein:increased oxidation:brain, mitochondrion (mouse)	PMID:21196577|REF_RGD_ID:6484690
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1485	cystic fibrosis		ISO	RGD:1551403	D	RGD:9068941	20200609	RGD		protein:increased oxidation:colonic epithelium, mitochondrion (mouse)	PMID:21518732|REF_RGD_ID:6484688
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:1826	epilepsy		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:3275	thymoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:3652	Leigh disease		ISO	RGD:1350002	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leigh syndrome | ClinVar Annotator: match by term: Leigh's disease | ClinVar Annotator: match by term: Leigh's necrotizing encephalopathy	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:4362	cervical cancer		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:5041	esophageal cancer		ISO	RGD:1350002	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:630	genetic disease		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:37273706
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:1350002	D	RGD:9068941	20200609	RGD		mitochondrial complex I deficiency, OMIM:252010, deletion:664delCAT, point mutation:D252G	PMID:11349233|REF_RGD_ID:1556706
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1350002	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:7319	axonal neuropathy		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Motor axonal neuropathy	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1350002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9000918	Disease Progression		ISO	RGD:1350002	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9004866	Ataxia		ISO	RGD:1350002	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:11349233|PMID:16199547|PMID:22200994|PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9007385	Mitochondrial Encephalopathy		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mitochondrial encephalopathy	PMID:22499341
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:1359670	D	RGD:9068941	20200609	RGD			PMID:21700931|REF_RGD_ID:13801200
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350002	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9256	colorectal cancer		ISO	RGD:1350002	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	PMID:25741868|PMID:28492532
12164689	NDUFS1	NADH:ubiquinone oxidoreductase core subunit S1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1350002	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22200994|PMID:25741868|PMID:28492532
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:10534	stomach cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:1115	sarcoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:1909	melanoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:3275	thymoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:5041	esophageal cancer		ISO	RGD:1601876	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164715	ARMC8	armadillo repeat containing 8	gene	DOID:9256	colorectal cancer		ISO	RGD:1601876	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12164749	KCNS1	potassium voltage-gated channel modifier subfamily S member 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:735720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164749	KCNS1	potassium voltage-gated channel modifier subfamily S member 1	gene	DOID:1909	melanoma		ISO	RGD:735720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164749	KCNS1	potassium voltage-gated channel modifier subfamily S member 1	gene	DOID:5041	esophageal cancer		ISO	RGD:735720	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164749	KCNS1	potassium voltage-gated channel modifier subfamily S member 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735720	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164749	KCNS1	potassium voltage-gated channel modifier subfamily S member 1	gene	DOID:9428	intracranial hypertension		ISO	RGD:735720	D	RGD:9068941	20230727	RGD		mRNA:increased expression:neocortex,Pyramidal cells (human)	PMID:27487831|REF_RGD_ID:329969876
12164754	MC3R	melanocortin 3 receptor	gene	DOID:9004713	Acute-Phase Reaction		ISO	RGD:3056	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (rat)	PMID:22183812|REF_RGD_ID:6484138
12164754	MC3R	melanocortin 3 receptor	gene	DOID:9970	obesity		ISO	RGD:1345990	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:19091795|PMID:25741868|PMID:28492532
12164754	MC3R	melanocortin 3 receptor	gene	DOID:9970	obesity	susceptibility	ISO	RGD:1345990	D	RGD:9068941	20240208	RGD		DNA:missense mutations:cds:p.T6K, p.V81I (human)	PMID:16123355|REF_RGD_ID:6484587
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:10283	prostate cancer		ISO	RGD:1350599	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:23265383
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:10534	stomach cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350599	D	RGD:8554872	20250121	ClinVar		ClinVar Annotator: match by term: KATNAL2-related autism	PMID:25741868
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:1324	lung cancer		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:3275	thymoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350599	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:630	genetic disease		ISO	RGD:1350599	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350599	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28191889
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164770	KATNAL2	katanin catalytic subunit A1 like 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1350599	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12164808	FBRS	fibrosin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1342852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164808	FBRS	fibrosin	gene	DOID:1324	lung cancer		ISO	RGD:1342852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164808	FBRS	fibrosin	gene	DOID:1909	melanoma		ISO	RGD:1342852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164808	FBRS	fibrosin	gene	DOID:4362	cervical cancer		ISO	RGD:1342852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164808	FBRS	fibrosin	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1342852	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12164808	FBRS	fibrosin	gene	DOID:9007661	Dwarfism		ISO	RGD:1342852	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12164829	TMEM59L	transmembrane protein 59 like	gene	DOID:1115	sarcoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164829	TMEM59L	transmembrane protein 59 like	gene	DOID:5119	ovarian cyst		ISO	RGD:1313653	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12164829	TMEM59L	transmembrane protein 59 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164829	TMEM59L	transmembrane protein 59 like	gene	DOID:9005539	Familial Prostate Cancer		ISO	RGD:1313653	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Familial prostate cancer	
12164829	TMEM59L	transmembrane protein 59 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1313653	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164842	TSPAN11	tetraspanin 11	gene	DOID:1115	sarcoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164842	TSPAN11	tetraspanin 11	gene	DOID:1324	lung cancer		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164842	TSPAN11	tetraspanin 11	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164842	TSPAN11	tetraspanin 11	gene	DOID:4362	cervical cancer		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164842	TSPAN11	tetraspanin 11	gene	DOID:5041	esophageal cancer		ISO	RGD:1604416	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164842	TSPAN11	tetraspanin 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164842	TSPAN11	tetraspanin 11	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164842	TSPAN11	tetraspanin 11	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604416	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0050557	congenital muscular dystrophy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related	PMID:24033266|PMID:25741868|PMID:28492532
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:3160581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522420|PMID:22522421
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0080000	muscular disease		ISO	RGD:3160581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U		ISO	RGD:3160581	D	RGD:7240710	20180808	OMIM			
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110295	autosomal recessive limb-girdle muscular dystrophy type 2U		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2U | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7	PMID:16199547|PMID:17576681|PMID:22522420|PMID:22522421|PMID:23217329|PMID:23288328|PMID:23390185|PMID:24033266|PMID:24120487|PMID:25640679|PMID:25741868|PMID:26404900|PMID:26467025|PMID:27234031|PMID:28492532|PMID:28688748|PMID:29382405|PMID:31127727|PMID:31395954|PMID:31909476|PMID:32502767|PMID:33199158|PMID:34485198|PMID:34645488|PMID:9536098
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0110639	congenital muscular dystrophy due to integrin alpha-7 deficiency		ISO	RGD:3160581	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency	PMID:25741868
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0111234	congenital muscular dystrophy-dystroglycanopathy type A7		ISO	RGD:3160581	D	RGD:7240710	20180130	OMIM			
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0111234	congenital muscular dystrophy-dystroglycanopathy type A7		ISO	RGD:3160581	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED	PMID:16199547|PMID:22522420|PMID:22522421|PMID:23288328|PMID:24033266|PMID:24120487|PMID:25741868|PMID:26467025|PMID:27363342|PMID:28492532|PMID:28688748|PMID:28973083
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy	PMID:25741868
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:10908	hydrocephalus		ISO	RGD:3160581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:1324	lung cancer		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:1909	melanoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:3275	thymoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:4362	cervical cancer		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:3160581	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22522421
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164880	CRPPA	CDP-L-ribitol pyrophosphorylase A	gene	DOID:9884	muscular dystrophy		ISO	RGD:3160581	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:68446	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164905	RAB2A	RAB2A, member RAS oncogene family	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68446	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164926	EBF2	EBF transcription factor 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164926	EBF2	EBF transcription factor 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164926	EBF2	EBF transcription factor 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164926	EBF2	EBF transcription factor 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1321920	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12164926	EBF2	EBF transcription factor 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12164926	EBF2	EBF transcription factor 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164926	EBF2	EBF transcription factor 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164926	EBF2	EBF transcription factor 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321920	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0050453	lissencephaly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Macrogyria	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0050777	Joubert syndrome		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joubert Syndrome | ClinVar Annotator: match by term: Joubert syndrome	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0050847	sleep apnea		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep apnea	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0060260	ptosis		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:7240710	20190315	OMIM			
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0080275	Joubert syndrome 30		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ARMC9-related condition | ClinVar Annotator: match by term: JOUBERT SYNDROME 30 | ClinVar Annotator: match by term: Joubert syndrome 30	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:28625504|PMID:29159890|PMID:31474318|PMID:35186037|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:10534	stomach cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1059	intellectual disability		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1115	sarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:11193	syndactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Syndactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:11383	cryptorchidism		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1143	exotropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Exotropia	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1148	polydactyly		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Polydactyly	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1324	lung cancer		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:1909	melanoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:2340	craniosynostosis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Brachycephaly	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:1604597	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Dandy-Walker malformation	PMID:25741868|PMID:28492532|PMID:28625504|PMID:31474318
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dermatitis, atopic	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:630	genetic disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9000343	Vision Disorders		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9001118	Equinus Deformity		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Talipes equinovalgus	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Delayed skeletal maturation	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9003133	Hypertelorism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1604597	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:17576681|PMID:25741868|PMID:28492532|PMID:29159890|PMID:9536098
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9007661	Dwarfism		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:28492532
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:25741868
12164952	ARMC9	armadillo repeat containing 9	gene	DOID:9837	hypertropia		ISO	RGD:1604597	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertropia	PMID:25741868
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0050851	glomerulosclerosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12675855|REF_RGD_ID:6903837
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0060058	lymphoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18703563
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0080685	aortic dissection		ISO	RGD:736066	D	RGD:9068941	20220929	RGD		protein:increased expression:aorta (human)	PMID:28167124|PMID:30787994|REF_RGD_ID:155260287|REF_RGD_ID:155260309
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:0111535	progressive osseous heteroplasia		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:10286	prostate carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16331611|REF_RGD_ID:1581362
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:10320	asbestosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779|PMID:21514415
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:1074	kidney failure		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		In type 2 diabetic patients	PMID:21034455|REF_RGD_ID:6903271
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:21483670|REF_RGD_ID:6903265
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:114	heart disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23558518
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:1205	allergic disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:12365	malaria		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16552072|REF_RGD_ID:1581333
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:13001	carotid stenosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26564003
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9294829
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:13608	biliary atresia		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15845635|REF_RGD_ID:1581370
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15776015|REF_RGD_ID:1581381
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:1591	renovascular hypertension		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12620700|REF_RGD_ID:1581326
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:1793	pancreatic cancer		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15970685|REF_RGD_ID:1581363
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:18390899|REF_RGD_ID:6903869
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21193197|PMID:21335463
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:182	calcinosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		protein:increased expression:dermis:	PMID:18422975|REF_RGD_ID:9068449
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:2237	hepatitis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15712659|REF_RGD_ID:1581383
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:2377	multiple sclerosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA, protein:SNPs, haplotypes, increased expression:multiple, serum	PMID:15885319|REF_RGD_ID:1581472
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:26	pancreas disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20495387
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:2921	glomerulonephritis	disease_progression	ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:20720406|REF_RGD_ID:6903272
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:299	adenocarcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20495387|PMID:21552421
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:22863853|REF_RGD_ID:6903264
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3021	acute kidney failure		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11274264|PMID:20623750
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14555839
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3070	high grade glioma		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16651633|REF_RGD_ID:1581321
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3070	high grade glioma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16651633
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3393	coronary artery disease		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		In type 2 diabetic patients	PMID:21034455|REF_RGD_ID:6903271
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3627	aortic aneurysm		ISO	RGD:736066	D	RGD:9068941	20220929	RGD		protein:increased expression:aorta (human)	PMID:25465469|REF_RGD_ID:155260284
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:11340	D	RGD:9068941	20200619	RGD		associated with  Middle East respiratory syndrome;mRNA:increased expression:lung:	PMID:31838832|REF_RGD_ID:30309204
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25216247
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16533775|REF_RGD_ID:1581361
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:399	tuberculosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15863395|REF_RGD_ID:1581371
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4079	heart valve disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21335463
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4247	coronary restenosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:12114325|REF_RGD_ID:1581358
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4247	coronary restenosis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16373617|REF_RGD_ID:1581366
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4306	radiculopathy		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:14513263|REF_RGD_ID:1581324
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4676	uremia		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19092814
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:20504883|REF_RGD_ID:6903276
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:5082	liver cirrhosis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221502
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:5434	scrapie		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16412998|REF_RGD_ID:1581331
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:552	pneumonia		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:557	kidney disease		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27026710
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:736066	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:576	proteinuria		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11972865
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:14500723|REF_RGD_ID:1581325
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:5844	myocardial infarction		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:12939547|REF_RGD_ID:1581386
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:640	encephalomyelitis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:640	encephalomyelitis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:11721059|REF_RGD_ID:1581329
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16047475|REF_RGD_ID:1581375
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:736066	D	RGD:9068941	20220901	RGD		mRNA:increased expression:liver (human)	PMID:35693827|REF_RGD_ID:153344586
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15761492|REF_RGD_ID:1581382
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:820	myocarditis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16679731|REF_RGD_ID:1581118
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:3752	D	RGD:9068941	20250724	RGD			PMID:20926632|REF_RGD_ID:5131995
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15592854|REF_RGD_ID:6483848
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15735673|REF_RGD_ID:1581341
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000315	Pleural Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000352	Vascular System Injuries		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11868353
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000483	Angina Pectoris		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16421174|REF_RGD_ID:1581390
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000784	Fibrosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15123578|REF_RGD_ID:1581343
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16474180|REF_RGD_ID:1581330
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407340
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001542	Albuminuria		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:18443355|REF_RGD_ID:6903862
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16221502|REF_RGD_ID:1581332
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16221502|REF_RGD_ID:1581332
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:9525990
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9001665	Aneurysm		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:11567232|REF_RGD_ID:1581391
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:12032186|REF_RGD_ID:1581328
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21852811
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15867270|REF_RGD_ID:1581338
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16105024|REF_RGD_ID:1581334
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:21378157|REF_RGD_ID:6903839
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10890885|PMID:8325891
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002315	Kidney Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15954903|REF_RGD_ID:1581372
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002438	Foreign-Body Reaction		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15949549|REF_RGD_ID:1581336
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20440599
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002704	Leukoencephalopathies		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11868353
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16428483|REF_RGD_ID:1581364
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003204	Neovascularization, Pathologic		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:11920639|REF_RGD_ID:1581359
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003311	Urinary Calculi		ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.R9402H (human)	PMID:16145474|REF_RGD_ID:1581368
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003311	Urinary Calculi	no_association	ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.N9171S (human)	PMID:16145474|REF_RGD_ID:1581368
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16221779|PMID:18550471
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003613	Laryngeal Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16299231|REF_RGD_ID:1581365
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15534078|REF_RGD_ID:1581339
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:20548025|REF_RGD_ID:6903275
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9004017	Chronic Hepatitis C	treatment	ISO	RGD:736066	D	RGD:9068941	20200609	RGD		DNA:SNPs:promoter:-443C>T, -1748G>A (human)	PMID:15868370|REF_RGD_ID:1581374
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16633066|REF_RGD_ID:1581360
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:15998773|REF_RGD_ID:1581369
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21552421|PMID:22481206
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15318939
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9005372	Inflammation		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:16105024|REF_RGD_ID:1581334
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:16528250|REF_RGD_ID:1581322
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006062	Nervous System Trauma		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:15625076|REF_RGD_ID:1581125
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006081	Osteolysis		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22407340
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006332	Vascular Calcification		ISO	RGD:3752	D	RGD:9068941	20250814	RGD		associated with end stage renal disease;mRNA,protein:increased expression:artery	PMID:30973285|REF_RGD_ID:625787427
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:3752	D	RGD:9068941	20200609	RGD			PMID:15531104|REF_RGD_ID:1581323
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15805072
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9006945	Diabetic Cardiomyopathies		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16980342
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:3752	D	RGD:9068941	20241214	RGD			PMID:12132583|REF_RGD_ID:1581327
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20623750
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16651633
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:11340	D	RGD:9068941	20200609	RGD			PMID:15165989|REF_RGD_ID:1581342
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9008105	Cystic, Mucinous, and Serous Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16633066|REF_RGD_ID:1581360
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:736066	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18949741|PMID:22531848
12164984	SPP1	secreted phosphoprotein 1	gene	DOID:9538	multiple myeloma		ISO	RGD:736066	D	RGD:9068941	20200609	RGD			PMID:16208410|REF_RGD_ID:1581367
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:10534	stomach cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:2394	ovarian cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:3275	thymoma		ISO	RGD:1603183	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:4362	cervical cancer		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12164998	ATPSCKMT	ATP synthase c subunit lysine N-methyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603183	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165016	RPS23	ribosomal protein S23	gene	DOID:0070415	brachycephaly, trichomegaly, and developmental delay		ISO	RGD:1343302	D	RGD:7240710	20190315	OMIM			
12165016	RPS23	ribosomal protein S23	gene	DOID:0070415	brachycephaly, trichomegaly, and developmental delay		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | ClinVar Annotator: match by term: Brachycephaly, trichomegaly, and developmental delay	PMID:25741868
12165016	RPS23	ribosomal protein S23	gene	DOID:11830	myopia		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Myopia	
12165016	RPS23	ribosomal protein S23	gene	DOID:12849	autistic disorder		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12165016	RPS23	ribosomal protein S23	gene	DOID:2394	ovarian cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12165016	RPS23	ribosomal protein S23	gene	DOID:4362	cervical cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165016	RPS23	ribosomal protein S23	gene	DOID:5041	esophageal cancer		ISO	RGD:1343302	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165016	RPS23	ribosomal protein S23	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12165016	RPS23	ribosomal protein S23	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165016	RPS23	ribosomal protein S23	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165016	RPS23	ribosomal protein S23	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	
12165016	RPS23	ribosomal protein S23	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1343302	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12165016	RPS23	ribosomal protein S23	gene	DOID:9005077	Joint Instability		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Joint hypermobility	
12165016	RPS23	ribosomal protein S23	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	
12165016	RPS23	ribosomal protein S23	gene	DOID:9007661	Dwarfism		ISO	RGD:1343302	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	
12165024	SERINC5	serine incorporator 5	gene	DOID:3275	thymoma		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165024	SERINC5	serine incorporator 5	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12165024	SERINC5	serine incorporator 5	gene	DOID:4362	cervical cancer		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165024	SERINC5	serine incorporator 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165024	SERINC5	serine incorporator 5	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12165024	SERINC5	serine incorporator 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165024	SERINC5	serine incorporator 5	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165024	SERINC5	serine incorporator 5	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165024	SERINC5	serine incorporator 5	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604715	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:10534	stomach cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1115	sarcoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1324	lung cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1909	melanoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:1928	Williams-Beuren syndrome		ISO	RGD:1344086	D	RGD:9068941	20250724	RGD			PMID:11978965|REF_RGD_ID:1580601
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:3070	high grade glioma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:4362	cervical cancer		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1344086	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165043	BUD23	BUD23 rRNA methyltransferase and ribosome maturation factor	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344086	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:0060915	proteosome-associated autoinflammatory syndrome 4		ISO	RGD:1312554	D	RGD:7240710	20210303	OMIM			
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:0060915	proteosome-associated autoinflammatory syndrome 4		ISO	RGD:1312554	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: PSMG2-related condition | ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 4	PMID:16199547|PMID:17576681|PMID:25741868|PMID:28492532|PMID:30664889|PMID:9536098
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:11830	myopia		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:1596	depressive disorder		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:2030	anxiety disorder		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:2841	asthma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:28492532
12165059	PSMG2	proteasome assembly chaperone 2	gene	DOID:9970	obesity		ISO	RGD:1312554	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12165073	ZNF608	zinc finger protein 608	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:0060058	lymphoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:10534	stomach cancer		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165073	ZNF608	zinc finger protein 608	gene	DOID:1909	melanoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12165073	ZNF608	zinc finger protein 608	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165073	ZNF608	zinc finger protein 608	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165073	ZNF608	zinc finger protein 608	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1315658	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:0060655	autosomal recessive congenital ichthyosis		ISO	RGD:1315443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis | ClinVar Annotator: match by term: Congenital ichthyosiform erythroderma | ClinVar Annotator: match by term: Congenital nonbullous ichthyosiform erythroderma | ClinVar Annotator: match by term: Lamellar ichthyosis	PMID:22246504|PMID:25741868|PMID:26691440|PMID:26778108|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:30578701|PMID:31168818|PMID:34851365|PMID:34908195|PMID:35734965|PMID:35970721
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		IAGP		D	RGD:12801476	20260411	OMIA		Ichthyosis, PNPLA1-related	PMID:19413748|PMID:22246504|PMID:18424829|PMID:18477327|PMID:21866517|PMID:26178606|PMID:26662214|PMID:15532893|PMID:27237723|PMID:34544496|PMID:34796560|PMID:34861369|PMID:35324825|PMID:36006348|PMID:37582787|PMID:40150930|PMID:41875098
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		ISO	RGD:1315443	D	RGD:7240710	20180130	OMIM			
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:0060719	autosomal recessive congenital ichthyosis 10		ISO	RGD:1315443	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Autosomal recessive congenital ichthyosis 10 | ClinVar Annotator: match by term: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 10 | ClinVar Annotator: match by term: PNPLA1-related condition	PMID:22246504|PMID:24344921|PMID:25741868|PMID:26691440|PMID:26778108|PMID:27884779|PMID:28093717|PMID:28369476|PMID:28403545|PMID:28492532|PMID:29624231|PMID:30290227|PMID:30578701|PMID:31120544|PMID:32147742|PMID:33969388|PMID:34899144|PMID:35412663|PMID:35893253|PMID:35970721
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:1697	ichthyosis		ISO	RGD:1315443	D	RGD:8554872	20250211	ClinVar		ClinVar Annotator: match by term: Ichthyosis	PMID:25741868|PMID:26691440|PMID:26778108
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:1826	epilepsy		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:1909	melanoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:630	genetic disease		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
12165107	PNPLA1	patatin like phospholipase domain containing 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1315443	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28093717|PMID:28403545|PMID:28492532|PMID:35970721
12165133	BEND4	BEN domain containing 4	gene	DOID:1909	melanoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165133	BEND4	BEN domain containing 4	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1605502	D	RGD:9068941	20210115	CTD		CTD Direct Evidence: marker/mechanism	PMID:28722770
12165133	BEND4	BEN domain containing 4	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165133	BEND4	BEN domain containing 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605502	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:0060646	congenital chylothorax		ISO	RGD:1317144	D	RGD:9068941	20220825	MouseDO		OMIM:603523	
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1317143	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:3275	thymoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1317143	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1317143	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16583263
12165143	ELK3	ETS transcription factor ELK3	gene	DOID:9775	diastolic heart failure		ISO	RGD:1317143	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12165152	UBN2	ubinuclein 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165152	UBN2	ubinuclein 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165152	UBN2	ubinuclein 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:2302451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868|PMID:28263302
12165152	UBN2	ubinuclein 2	gene	DOID:10534	stomach cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165152	UBN2	ubinuclein 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165152	UBN2	ubinuclein 2	gene	DOID:12849	autistic disorder		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12165152	UBN2	ubinuclein 2	gene	DOID:1826	epilepsy		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12165152	UBN2	ubinuclein 2	gene	DOID:3275	thymoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165152	UBN2	ubinuclein 2	gene	DOID:4362	cervical cancer		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165152	UBN2	ubinuclein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165152	UBN2	ubinuclein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12165152	UBN2	ubinuclein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165152	UBN2	ubinuclein 2	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12165152	UBN2	ubinuclein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2302451	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165173	NOTUM	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606450	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12165173	NOTUM	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:3275	thymoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165173	NOTUM	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165173	NOTUM	notum, palmitoleoyl-protein carboxylesterase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1606450	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:1115	sarcoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:1324	lung cancer		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:1909	melanoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:3275	thymoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1319999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868
12165190	IRAK2	interleukin 1 receptor associated kinase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:1115	sarcoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:1909	melanoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:3070	high grade glioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:4362	cervical cancer		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1320999	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:9003566	Mesothelioma		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mesothelioma	
12165212	IFRD2	interferon related developmental regulator 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320999	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165233	PANK1	pantothenate kinase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165233	PANK1	pantothenate kinase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165233	PANK1	pantothenate kinase 1	gene	DOID:10534	stomach cancer		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165233	PANK1	pantothenate kinase 1	gene	DOID:3275	thymoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165233	PANK1	pantothenate kinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165233	PANK1	pantothenate kinase 1	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165233	PANK1	pantothenate kinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165233	PANK1	pantothenate kinase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1312259	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: therapeutic	PMID:35589691
12165233	PANK1	pantothenate kinase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312259	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:0070648	cherubism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: CHERUBISM | ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:11381256|PMID:12900899|PMID:14577811|PMID:15507112|PMID:16199547|PMID:16786512|PMID:17321449|PMID:17576681|PMID:18596838|PMID:19017279|PMID:19576004|PMID:20002873|PMID:21045962|PMID:21794028|PMID:22153076|PMID:22153077|PMID:22795151|PMID:23298620|PMID:24033266|PMID:24382142|PMID:24608212|PMID:24916406|PMID:25144740|PMID:25741868|PMID:26064398|PMID:27272835|PMID:28492532|PMID:28644570|PMID:28721660|PMID:30236129|PMID:34573280|PMID:9536098
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:10534	stomach cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1059	intellectual disability		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:10907	microcephaly		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:11383	cryptorchidism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Unilateral cryptorchidism	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:12698	gynecomastia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gynecomastia	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1682	congenital heart disease		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Congenital heart disease	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:7240710	20180130	OMIM			
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1856	cherubism 1		ISO	RGD:1321583	D	RGD:8554872	20250821	ClinVar		ClinVar Annotator: match by term: SH3BP2-related disorder	PMID:11381256|PMID:12900899|PMID:17321449|PMID:17576681|PMID:22153076|PMID:23298620|PMID:25741868|PMID:27272835|PMID:28492532|PMID:9536098
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:1909	melanoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:3275	thymoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:630	genetic disease		ISO	RGD:1321583	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9002589	Bone Fractures		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent fractures	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9003133	Hypertelorism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9406	hypopituitarism		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypopituitarism	PMID:28492532
12165250	SH3BP2	SH3 domain binding protein 2	gene	DOID:9970	obesity		ISO	RGD:1321583	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:7240710	20180130	OMIM			
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:0060891	Parkinson's disease 19A		ISO	RGD:1320495	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Juvenile onset Parkinson disease 19A | ClinVar Annotator: match by term: PARK19 | ClinVar Annotator: match by term: PARKINSON DISEASE 19A, JUVENILE-ONSET | ClinVar Annotator: match by term: PARKINSON DISEASE 19B, EARLY-ONSET | ClinVar Annotator: match by term: Parkinson disease 19a, juvenile-onset	PMID:16199547|PMID:17576681|PMID:2256350|PMID:22563501|PMID:23211418|PMID:25640679|PMID:25741868|PMID:26528954|PMID:26703368|PMID:28191889|PMID:28492532|PMID:31737044|PMID:32214227|PMID:32472658|PMID:32613234|PMID:32662538|PMID:32707456|PMID:34948429|PMID:35861376|PMID:9536098
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10283	prostate cancer		ISO	RGD:1320495	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Prostate cancer	PMID:22563501|PMID:23211418|PMID:26528954|PMID:28492532
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:10534	stomach cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1059	intellectual disability		ISO	RGD:1320495	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder	PMID:25741868
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1324	lung cancer		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	PMID:25741868|PMID:28492532
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:14330	Parkinson's disease		ISO	RGD:1320495	D	RGD:9068941	20200609	RGD			PMID:25639775|REF_RGD_ID:10450521
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:1909	melanoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5041	esophageal cancer		ISO	RGD:1320495	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:28492532
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:630	genetic disease		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26528954|PMID:28492532|PMID:31737044|PMID:34948429
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320495	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165281	DNAJC6	DnaJ heat shock protein family (Hsp40) member C6	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0040083	Chlamydia pneumonia	severity	ISO	RGD:1322206	D	RGD:9068941	20201211	RGD			PMID:29893841|REF_RGD_ID:40890270
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0040084	Streptococcus pneumonia	treatment	ISO	RGD:1322206	D	RGD:9068941	20201211	RGD		associated with immunodeficiency 14	PMID:30093657|REF_RGD_ID:40890269
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	PMID:25741868|PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1322205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21173233
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1322205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23676220
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0060704	lymphoproliferative syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative disorder	PMID:24165795|PMID:25741868|PMID:27555459|PMID:27577878|PMID:28104464|PMID:28167755|PMID:28190860|PMID:28492532|PMID:29330011
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:1322205	D	RGD:7240710	20180130	OMIM			
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:0111936	immunodeficiency 14		ISO	RGD:1322205	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Activated PI3K-Delta Syndrome (APDS) | ClinVar Annotator: match by term: Activated PI3K-delta syndrome | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14A WITH LYMPHOPROLIFERATION, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Immunodeficiency 14 | ClinVar Annotator: match by term: Immunodeficiency 14b, autosomal recessive | ClinVar Annotator: match by term: activated PI3K-delta syndrome	PMID:16199547|PMID:16984281|PMID:17576681|PMID:24136356|PMID:24165795|PMID:24610295|PMID:25352054|PMID:25741868|PMID:26437962|PMID:26732860|PMID:27555459|PMID:27577878|PMID:27697496|PMID:28104464|PMID:28122867|PMID:28167755|PMID:28190860|PMID:28414062|PMID:28428270|PMID:28492532|PMID:28972011|PMID:29330011|PMID:29937814|PMID:30018075|PMID:30040974|PMID:30138677|PMID:30194267|PMID:30336224|PMID:30499059|PMID:30639166|PMID:30738173|PMID:31031754|PMID:31045771|PMID:31073077|PMID:31537641|PMID:32084423|PMID:32099075|PMID:32581362|PMID:32888943|PMID:33080915|PMID:33995405|PMID:34115277|PMID:35189965|PMID:35753512|PMID:36129616|PMID:9536098
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:10534	stomach cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1115	sarcoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:11394	adult respiratory distress syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute respiratory distress syndrome	PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:11573	listeriosis		ISO	RGD:1322206	D	RGD:9068941	20201211	RGD			PMID:26311905|REF_RGD_ID:40890274
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:11830	myopia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:12849	autistic disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1324	lung cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:13250	diarrhea		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1380	endometrial cancer		ISO	RGD:1352691	D	RGD:9068941	20200609	RGD			PMID:21478295|REF_RGD_ID:13441595
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:14115	toxic shock syndrome	severity	ISO	RGD:1322206	D	RGD:9068941	20201211	RGD			PMID:28659355|REF_RGD_ID:40890272
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1596	depressive disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:1909	melanoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:2030	anxiety disorder		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:2394	ovarian cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:2841	asthma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:25741868|PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:3068	glioblastoma	disease_progression	ISO	RGD:1322205	D	RGD:9068941	20200609	RGD			PMID:24523440|REF_RGD_ID:13782051
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:3070	high grade glioma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:3275	thymoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:4362	cervical cancer		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:4483	rhinitis		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Rhinitis	PMID:25741868|PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:480	movement disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:5041	esophageal cancer		ISO	RGD:1322205	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:5419	schizophrenia	ameliorates	ISO	RGD:1310990	D	RGD:9068941	20240404	RGD			PMID:22689948|REF_RGD_ID:405255645
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:5419	schizophrenia	susceptibility	ISO	RGD:1322205	D	RGD:9068941	20240404	RGD		DNA:SNPs: :rs6540991, rs9430220 (human)	PMID:22689948|REF_RGD_ID:405255645
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:6039	uveal melanoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:630	genetic disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the digestive system	PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1322205	D	RGD:7240710	20210505	OMIM			
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9000886	Roifman-Chitayat Syndrome		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Roifman-Chitayat syndrome | ClinVar Annotator: match by term: Roifman-Chitayat syndrome, digenic	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9001733	Tinnitus		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1322205	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17199135
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1322206	D	RGD:9068941	20200609	RGD			PMID:18412166|REF_RGD_ID:6482696
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9003126	Hallucinations		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hallucinations	PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9003507	Premature Birth		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9008023	Memory Disorders		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Memory impairment	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic hepatitis	PMID:28492532|PMID:31031754
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:1322206	D	RGD:9068941	20201211	RGD			PMID:27999013|REF_RGD_ID:40890273
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	PMID:25741868|PMID:28492532
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1322206	D	RGD:9068941	20201211	RGD			PMID:27999013|REF_RGD_ID:40890273
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9256	colorectal cancer		ISO	RGD:1322205	D	RGD:9068941	20200609	RGD		DNA:hypermethylation	PMID:25366420|REF_RGD_ID:13432038
12165316	PIK3CD	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta	gene	DOID:9970	obesity		ISO	RGD:1322205	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:28492532
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:3275	thymoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:5041	esophageal cancer		ISO	RGD:1346719	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165356	METTL4	methyltransferase 4, N6-adenosine	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346719	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:0050685	small cell carcinoma		ISO	RGD:1315971	D	RGD:9068941	20220204	RGD		protein:increased expression:lung (human)	PMID:24823637|REF_RGD_ID:151347636
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:0061054	immunodeficiency 84		ISO	RGD:1315971	D	RGD:7240710	20210804	OMIM			
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:0061054	immunodeficiency 84		ISO	RGD:1315971	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 84	PMID:25741868
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:0080815	childhood-onset asthma		ISO	RGD:1315971	D	RGD:9068941	20251106	RGD		DNA:SNP: :multiple	PMID:34919286|REF_RGD_ID:629006596
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:1115	sarcoma		ISO	RGD:1315971	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:1909	melanoma		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:1936	atherosclerosis	susceptibility	ISO	RGD:1315971	D	RGD:9068941	20251011	RGD		DNA:SNP: :rs9303277	PMID:26603569|REF_RGD_ID:11537196
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:2841	asthma		ISO	RGD:1315971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25256354
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:1315971	D	RGD:9068941	20220204	RGD		protein:increased expression:lung (human)	PMID:24823637|REF_RGD_ID:151347636
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1315971	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1315971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143596
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:9004484	Sepsis		ISO	RGD:1315971	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: sepsis	PMID:25741868
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:9005936	Gastro-Enteropancreatic Neuroendocrine Tumor		ISO	RGD:1315971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915428
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1315972	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12165379	IKZF3	IKAROS family zinc finger 3	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1315971	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23334668
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:0080600	COVID-19		ISO	RGD:1349279	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:1115	sarcoma		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	PMID:25741868
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:6039	uveal melanoma		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	PMID:25741868
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165396	MGAT1	alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1349279	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:10534	stomach cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:12849	autistic disorder		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:1324	lung cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:1826	epilepsy		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:1909	melanoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:2394	ovarian cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:3717	gastric adenocarcinoma	susceptibility	ISO	RGD:1352197	D	RGD:9068941	20220609	RGD		DNA:amplification:cds: (human)	PMID:27366209|REF_RGD_ID:152995256
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:4990	essential tremor		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Essential tremor	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:5041	esophageal cancer		ISO	RGD:1352197	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:5419	schizophrenia		ISO	RGD:1352197	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:25741868
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9000081	Lymphatic Metastasis	susceptibility	ISO	RGD:1352197	D	RGD:9068941	20220609	RGD		DNA:amplification:cds: (human, male)	PMID:27366209|REF_RGD_ID:152995256
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9000918	Disease Progression		ISO	RGD:1352197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1352197	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia | ClinVar Annotator: match by term: Leukemia, acute myeloid, somatic	
12165413	ABCA13	ATP binding cassette subfamily A member 13	gene	DOID:9256	colorectal cancer		ISO	RGD:1352197	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12165471	ZBTB22	zinc finger and BTB domain containing 22	gene	DOID:1115	sarcoma		ISO	RGD:1352119	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD		associated with bacterial pneumonia	PMID:16960786|REF_RGD_ID:127229902
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	exacerbates	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:17230441|REF_RGD_ID:126928125
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0040085	bacterial sepsis	treatment	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:21507332|REF_RGD_ID:126925982
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0050211	swine influenza	severity	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:24453980|REF_RGD_ID:126925972
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0050697	chorioamnionitis		ISO	RGD:1319823	D	RGD:9068941	20210604	RGD		associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:	PMID:19591072|REF_RGD_ID:127229904
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:0060180	colitis	severity	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:24453980|REF_RGD_ID:126925972
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:1002	endometritis	ameliorates	ISO	RGD:1319824	D	RGD:9068941	20210611	RGD			PMID:31365951|REF_RGD_ID:126928127
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:10534	stomach cancer		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:12365	malaria	severity	ISO	RGD:1319823	D	RGD:9068941	20210507	RGD		DNA:SNP: :rs2234237A>T (human)	PMID:27671831|REF_RGD_ID:126848795
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:13252	mesenteric vascular occlusion	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:18091551|REF_RGD_ID:127284848
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:13272	Klebsiella pneumonia	disease_progression	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:24396044|REF_RGD_ID:126925976
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:14115	toxic shock syndrome		ISO	RGD:1319823	D	RGD:9068941	20210507	RGD		mRNA:decreased expression:polymorphonuclear leukocyte	PMID:24465168|REF_RGD_ID:126848796
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:1596	depressive disorder	treatment	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:32009956|REF_RGD_ID:127284856
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:1883	hepatitis C		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		protein:increased expression:plasma	PMID:27328755|REF_RGD_ID:126925974
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:1884	viral hepatitis	disease_progression	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:27328755|REF_RGD_ID:126925974
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:2043	hepatitis B		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		protein:increased expression:plasma	PMID:27328755|REF_RGD_ID:126925974
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:2913	acute pancreatitis	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:19787284|REF_RGD_ID:127284839
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:2913	acute pancreatitis	severity	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:26250893|REF_RGD_ID:11522077
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:2957	pulmonary tuberculosis	disease_progression	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:29844416|REF_RGD_ID:126925977
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:3275	thymoma		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:3525	middle cerebral artery infarction	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:32736673|REF_RGD_ID:127284860
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:3798	pleural empyema	treatment	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:20819512|REF_RGD_ID:127284851
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:4033	bacterial gastritis		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		mRNA,protein:increased expression:gastric epithelium	PMID:18321350|REF_RGD_ID:126928123
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:409	liver disease		ISO	RGD:1319823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12651611
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis		ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:18008257|REF_RGD_ID:126928120
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis	severity	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:18008257|REF_RGD_ID:126928120
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5052	melioidosis	treatment	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:18008257|REF_RGD_ID:126928120
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		mRNA,protein:increased expression:peripheral blood mononuclear cell, macrophage, plasma	PMID:31260499|REF_RGD_ID:126925971
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:25840803|REF_RGD_ID:127284842
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	ameliorates	ISO	RGD:1319824	D	RGD:9068941	20210611	RGD			PMID:25840803|REF_RGD_ID:127284842
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:5844	myocardial infarction	disease_progression	ISO	RGD:1319823	D	RGD:9068941	20210611	RGD			PMID:25840803|REF_RGD_ID:127284842
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:7148	rheumatoid arthritis	treatment	ISO	RGD:1309467	D	RGD:9068941	20210604	RGD			PMID:27049384|REF_RGD_ID:127229930
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:824	periodontitis		ISO	RGD:1309467	D	RGD:9068941	20210611	RGD		mRNA,protein:increased expression:periodontium	PMID:29972971|REF_RGD_ID:127284858
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:874	bacterial pneumonia	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:16960786|REF_RGD_ID:127229902
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:874	bacterial pneumonia	severity	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:22996209|PMID:24465168|REF_RGD_ID:126848796|REF_RGD_ID:126925987
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9000438	Subarachnoid Hemorrhage	severity	ISO	RGD:1319823	D	RGD:9068941	20210611	RGD			PMID:33727099|REF_RGD_ID:127284864
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9000438	Subarachnoid Hemorrhage	treatment	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:30910643|REF_RGD_ID:127284863
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9001708	Hemorrhagic Shock	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:19333144|REF_RGD_ID:127284838
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002106	Pneumococcal Pneumonia		ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:24752755|REF_RGD_ID:126928121
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002106	Pneumococcal Pneumonia	ameliorates	ISO	RGD:1319824	D	RGD:9068941	20210604	RGD			PMID:19596984|REF_RGD_ID:127229903
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:1319823	D	RGD:9068941	20210604	RGD		protein:increased expression:kidney interstitium	PMID:30478987|REF_RGD_ID:127229931
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:29331667|PMID:30478987|REF_RGD_ID:127229931|REF_RGD_ID:127284861
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002224	Rotator Cuff Injuries		ISO	RGD:1309467	D	RGD:9068941	20210611	RGD		protein:increased expression:tendon:	PMID:29891998|REF_RGD_ID:127284862
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002668	Liver Abscess	severity	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD		associated with Klebsiella pneumonia	PMID:24396044|REF_RGD_ID:126925976
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9002869	Schistosomiasis Mansoni		ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:21332515|REF_RGD_ID:126925988
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		mRNA:increased expression:cornea	PMID:26963514|REF_RGD_ID:11526921
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis		ISO	RGD:1319824	D	RGD:9068941	20210528	RGD		mRNA:increased expression:cornea	PMID:26963514|REF_RGD_ID:11526921
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004055	Fungal Keratitis	treatment	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:26963514|REF_RGD_ID:11526921
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD		mRNA:decreased expression:polymorph nuclear cell:	PMID:22996209|REF_RGD_ID:126925987
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis	disease_progression	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:22809118|REF_RGD_ID:126925981
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:22147417|REF_RGD_ID:127284847
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004610	Acute Lung Injury	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:26832696|REF_RGD_ID:127284840
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9004610	Acute Lung Injury	exacerbates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:26832696|REF_RGD_ID:127284840
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9005930	Endotoxemia		ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:15585833|REF_RGD_ID:126928122
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:21507332|REF_RGD_ID:126925982
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:1309467	D	RGD:9068941	20210611	RGD		mRNA:increased expression:sciatic nerve,peripheral blood mononuclar cell	PMID:28260057|REF_RGD_ID:127284841
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006647	Experimental Autoimmune Neuritis	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD			PMID:28260057|REF_RGD_ID:127284841
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319823	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9007755	Intestinal Reperfusion Injury	ameliorates	ISO	RGD:1309467	D	RGD:9068941	20210611	RGD		associated with mesenteric vascular occlusion;	PMID:18091551|REF_RGD_ID:127284848
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9008067	Toxemia	ameliorates	ISO	RGD:1319824	D	RGD:9068941	20210611	RGD			PMID:17230441|REF_RGD_ID:126928125
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9065	leishmaniasis	severity	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:24453980|REF_RGD_ID:126925972
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9120	amyloidosis		ISO	RGD:1319823	D	RGD:9068941	20210604	RGD		associated with familial Mediterranean fever;protein:increased expression:serum:	PMID:31474164|REF_RGD_ID:127229901
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9415	allergic asthma		ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:21592044|REF_RGD_ID:126928124
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9415	allergic asthma	exacerbates	ISO	RGD:1319824	D	RGD:9068941	20210528	RGD			PMID:21592044|REF_RGD_ID:126928124
12165478	TREM1	triggering receptor expressed on myeloid cells 1	gene	DOID:9470	bacterial meningitis	disease_progression	ISO	RGD:1319823	D	RGD:9068941	20210528	RGD			PMID:16786330|REF_RGD_ID:126928126
12165489	NINJ1	ninjurin 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165489	NINJ1	ninjurin 1	gene	DOID:0080600	COVID-19		ISO	RGD:737046	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12165489	NINJ1	ninjurin 1	gene	DOID:1909	melanoma		ISO	RGD:737046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165489	NINJ1	ninjurin 1	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737046	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12165489	NINJ1	ninjurin 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:737046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165489	NINJ1	ninjurin 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:737046	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0050117	disease by infectious agent		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Recurrent infections	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0050951	hereditary ataxia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hereditary ataxia	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1318785	D	RGD:7240710	20180130	OMIM			
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0050998	nonprogressive cerebellar ataxia with mental retardation		ISO	RGD:1318785	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CAMTA1-related condition | ClinVar Annotator: match by term: CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES | ClinVar Annotator: match by term: Cerebellar ataxia, nonprogressive, with mental retardation | ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities | ClinVar Annotator: match by term: cerebellar dysfunction with variable cognitive and behavioral abnormalities	PMID:22693284|PMID:24738973|PMID:25326637|PMID:25741868|PMID:28492532|PMID:29389947|PMID:31957018|PMID:32157189|PMID:33131045|PMID:33677721
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0060249	scoliosis		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0060326	myelomeningocele		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myelomeningocele	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0060811	syndromic X-linked intellectual disability Turner type		ISO	RGD:1318785	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, TURNER TYPE	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0081443	Stolerman neurodevelopmental syndrome		ISO	RGD:1318785	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:0110784	hereditary spastic paraplegia 33		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Spastic tetraparesis	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318785	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Mild intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability | ClinVar Annotator: match by term: intellectual disability	PMID:25741868|PMID:28492532
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:10892	hypospadias		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:10908	hydrocephalus		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hydrocephalus	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:1115	sarcoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:11782	astigmatism		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:11830	myopia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autistic behavior	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:1324	lung cancer		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:2234	focal epilepsy		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:2468	psychotic disorder		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Psychotic disorder	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:3275	thymoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:4448	macular degeneration		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:5041	esophageal cancer		ISO	RGD:1318785	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:5723	optic atrophy		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:630	genetic disease		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:22693284|PMID:25741868|PMID:28492532|PMID:33131045|PMID:33677721|PMID:34906502
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:8619	recurrent hypersomnia		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypersomnia	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9001900	Arnold-Chiari Malformation		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chiari type II malformation	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318785	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1318785	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12165508	CAMTA1	calmodulin binding transcription activator 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318785	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12165573	CHCT1	CHD1 helical C-terminal domain containing 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165573	CHCT1	CHD1 helical C-terminal domain containing 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603589	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165583	METTL23	methyltransferase like 23	gene	DOID:0060249	scoliosis		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:24501276|PMID:24626631|PMID:25741868|PMID:28492532
12165583	METTL23	methyltransferase like 23	gene	DOID:0060321	umbilical hernia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Umbilical hernia	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:0081208	autosomal recessive intellectual developmental disorder 44		ISO	RGD:2298732	D	RGD:7240710	20180130	OMIM			
12165583	METTL23	methyltransferase like 23	gene	DOID:0081208	autosomal recessive intellectual developmental disorder 44		ISO	RGD:2298732	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44 | ClinVar Annotator: match by term: Intellectual disability, autosomal recessive 44	PMID:24501276|PMID:24626631|PMID:25741868|PMID:32067349
12165583	METTL23	methyltransferase like 23	gene	DOID:1059	intellectual disability		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder | ClinVar Annotator: match by term: Intellectual disability, mild	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:11383	cryptorchidism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cryptorchidism	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:12849	autistic disorder		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Autism	PMID:25741868|PMID:32067349
12165583	METTL23	methyltransferase like 23	gene	DOID:1686	glaucoma		ISO	RGD:1314817	D	RGD:9068941	20221215	MouseDO			
12165583	METTL23	methyltransferase like 23	gene	DOID:234	colon adenocarcinoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165583	METTL23	methyltransferase like 23	gene	DOID:3275	thymoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165583	METTL23	methyltransferase like 23	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12165583	METTL23	methyltransferase like 23	gene	DOID:4362	cervical cancer		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165583	METTL23	methyltransferase like 23	gene	DOID:5041	esophageal cancer		ISO	RGD:2298732	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165583	METTL23	methyltransferase like 23	gene	DOID:630	genetic disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:9001276	Failure to Thrive		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	
12165583	METTL23	methyltransferase like 23	gene	DOID:9001722	Dysarthria		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Dysarthria	
12165583	METTL23	methyltransferase like 23	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	
12165583	METTL23	methyltransferase like 23	gene	DOID:9003279	Joint Dislocations		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Joint dislocation	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:25741868|PMID:32067349
12165583	METTL23	methyltransferase like 23	gene	DOID:9005616	Micrognathism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Micrognathia	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165583	METTL23	methyltransferase like 23	gene	DOID:9007661	Dwarfism		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:32067349
12165583	METTL23	methyltransferase like 23	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165583	METTL23	methyltransferase like 23	gene	DOID:9220	central sleep apnea		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Central sleep apnea syndrome	PMID:25741868
12165583	METTL23	methyltransferase like 23	gene	DOID:930	orbital disease		ISO	RGD:2298732	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Proptosis	PMID:25741868
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868|PMID:28492532|PMID:32531858
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0081292	traumatic brain injury		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:7240710	20180130	OMIM			
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0110005	Leber congenital amaurosis 9		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Amaurosis congenita of Leber, type 9 | ClinVar Annotator: match by term: LEBER CONGENITAL AMAUROSIS 9 | ClinVar Annotator: match by term: Leber congenital amaurosis 9 | ClinVar Annotator: match by term: NMNAT1-related retinopathy	PMID:16199547|PMID:17576681|PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24791140|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:25988908|PMID:26018082|PMID:26047050|PMID:26103963|PMID:26112015|PMID:26316326|PMID:26464178|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31877759|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32165824|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33668384|PMID:33749171|PMID:34426522|PMID:34588515|PMID:34837036|PMID:35754085|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:3691693|PMID:38892339|PMID:42120987|PMID:9536098
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:7240710	20210414	OMIM			
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:0112290	spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: SHILCA SYNDROME	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25412400|PMID:25741868|PMID:26018082|PMID:26047050|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28453600|PMID:28492532|PMID:28559085|PMID:29074561|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31054281|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32533184|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Severe intellectual disability	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1310996	D	RGD:9068941	20200609	RGD		mRNA:increased expression:dorsal root ganglion:	PMID:16914673|REF_RGD_ID:13781948
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322215	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic behavior	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:12849	autistic disorder		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:13250	diarrhea		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diarrhea	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1432	blindness		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38219857|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:1826	epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:2978	carbohydrate metabolic disorder		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Abnormality of mucopolysaccharide metabolism	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:3327	partial motor epilepsy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Focal motor seizure	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:4448	macular degeneration		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5679	retinal disease		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Retinal disorders	PMID:22842229|PMID:28492532|PMID:29178642
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5723	optic atrophy		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842229
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:83	cataract		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8466	retinal degeneration		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal degeneration	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:26112015|PMID:26316326|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29053603|PMID:29178642|PMID:29184169|PMID:29186038|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:34837036|PMID:35754085|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9000343	Vision Disorders		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002498	Wallerian Degeneration		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:27822499
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1322215	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:24940029|PMID:25741868|PMID:26112015|PMID:28492532|PMID:29053603|PMID:29184169|PMID:30004997|PMID:33749171
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9004910	Hereditary Macular Coloboma		ISO	RGD:1322215	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22842230
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:1322215	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colorectal cancer	
12165604	NMNAT1	nicotinamide nucleotide adenylyltransferase 1	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1322215	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Nystagmus	PMID:20301475|PMID:22842227|PMID:22842229|PMID:22842230|PMID:22842231|PMID:23040504|PMID:24033266|PMID:24625443|PMID:24830548|PMID:24940029|PMID:25741868|PMID:26018082|PMID:26103963|PMID:27032803|PMID:28224992|PMID:28492532|PMID:28559085|PMID:29178642|PMID:29184169|PMID:29674119|PMID:30004997|PMID:30576320|PMID:30609409|PMID:31429209|PMID:31456290|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:32150116|PMID:32507954|PMID:32531858|PMID:32581362|PMID:32865313|PMID:33749171|PMID:34426522|PMID:34588515|PMID:36369640|PMID:36460718|PMID:36672815|PMID:36819107|PMID:38892339|PMID:42120987
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:7240710	20180130	OMIM			
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:0110608	primary ciliary dyskinesia 19		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19 | ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19 | ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 | ClinVar Annotator: match by term: primary ciliary dyskinesia 19	PMID:16199547|PMID:17576681|PMID:19763152|PMID:20301301|PMID:20307669|PMID:22406018|PMID:23122589|PMID:23891469|PMID:25640679|PMID:25741868|PMID:27637300|PMID:28492532|PMID:29429202|PMID:29511670|PMID:30300419|PMID:31650533|PMID:31690835|PMID:36515799|PMID:41062319|PMID:9536098
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:25741868|PMID:27637300|PMID:28492532|PMID:36515799
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:1324	lung cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:1909	melanoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:2394	ovarian cancer		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:5223	infertility		ISO	RGD:1351490	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Infertility	PMID:28492532|PMID:30300419
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:6406	double outlet right ventricle		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Double outlet right ventricle	PMID:20301301|PMID:23122589|PMID:23527195|PMID:23891469|PMID:25741868|PMID:28492532
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351490	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165693	DNAAF11	dynein axonemal assembly factor 11	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1351490	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:23122589|PMID:23891469|PMID:24307375|PMID:25741868|PMID:26139845|PMID:26228299|PMID:28492532
12165713	SPAM1	sperm adhesion molecule 1	gene	DOID:0060058	lymphoma		ISO	RGD:1347791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lymphoma	
12165713	SPAM1	sperm adhesion molecule 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1347791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12165713	SPAM1	sperm adhesion molecule 1	gene	DOID:5557	testicular germ cell cancer		ISO	RGD:1347791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12165713	SPAM1	sperm adhesion molecule 1	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:1347791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Germ cell tumor of testis	
12165713	SPAM1	sperm adhesion molecule 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1347791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:10534	stomach cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:10907	microcephaly		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1115	sarcoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neonatal respiratory distress	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1324	lung cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:1909	melanoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:3275	thymoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:4362	cervical cancer		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1346289	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:8488	polyhydramnios		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165727	SUPT5H	SPT5 homolog, DSIF elongation factor subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1346289	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:1324	lung cancer		ISO	RGD:1353620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:3275	thymoma		ISO	RGD:1353620	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1353620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:4362	cervical cancer		ISO	RGD:1353620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165764	PCTP	phosphatidylcholine transfer protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353620	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:0080600	COVID-19		ISO	RGD:1349666	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:1324	lung cancer		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1349666	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165774	ENPP5	ectonucleotide pyrophosphatase/phosphodiesterase family member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349666	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:0051047	congenital disorder of glycosylation type IIbb		ISO	RGD:1312059	D	RGD:7240710	20231025	OMIM			
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:0051047	congenital disorder of glycosylation type IIbb		ISO	RGD:1312059	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIbb | ClinVar Annotator: match by term: Congenital disorder of glycosylation, type IIbb	PMID:25741868
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:1115	sarcoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:1324	lung cancer		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:3275	thymoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:5041	esophageal cancer		ISO	RGD:1312059	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165788	COG3	component of oligomeric golgi complex 3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312059	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:1115	sarcoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:1324	lung cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1604565	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease	PMID:19822871|PMID:23360469|PMID:24811917|PMID:25052858|PMID:25921748|PMID:28492532|PMID:29215089|PMID:30866059
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:1909	melanoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:3275	thymoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165815	HELZ2	helicase with zinc finger 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604565	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:7240710	20180130	OMIM			
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:0060456	Schnyder corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: CORNEAL DYSTROPHY, SCHNYDER | ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy	PMID:17668063|PMID:17960116|PMID:18176953|PMID:20505825|PMID:21572737|PMID:23328470|PMID:23564352|PMID:25741868|PMID:26748743|PMID:28492532|PMID:29977031|PMID:30084067|PMID:30223810|PMID:31323021
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:2566	corneal dystrophy		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corneal dystrophy	
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:4362	cervical cancer		ISO	RGD:1603400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:9002860	Cardiac Edema		ISO	RGD:1603400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
12165844	UBIAD1	UbiA prenyltransferase domain containing 1	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1603400	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23533172
12165850	HOXB4	homeobox B4	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:408382650	D	RGD:9068941	20250724	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1321602	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:25741868|PMID:40131364
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:10534	stomach cancer		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:10907	microcephaly		ISO	RGD:1321602	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:1115	sarcoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:1324	lung cancer		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:1909	melanoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:3275	thymoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:5041	esophageal cancer		ISO	RGD:1321602	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:6039	uveal melanoma		ISO	RGD:1321602	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1321602	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165889	SEC24C	SEC24 homolog C, COPII coat complex component	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1321602	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12165929	MIR218-2	microRNA mir-218-2	gene	DOID:0050742	nicotine dependence		ISO	RGD:1347035	D	RGD:9068941	20241107	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
12165929	MIR218-2	microRNA mir-218-2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1347035	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28864214
12165954	FOXJ3	forkhead box J3	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:10534	stomach cancer		ISO	RGD:1323400	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12165954	FOXJ3	forkhead box J3	gene	DOID:1115	sarcoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:3070	high grade glioma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12165954	FOXJ3	forkhead box J3	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:4362	cervical cancer		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12165954	FOXJ3	forkhead box J3	gene	DOID:5041	esophageal cancer		ISO	RGD:1323400	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12165954	FOXJ3	forkhead box J3	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:6039	uveal melanoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uveal melanoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12165954	FOXJ3	forkhead box J3	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12165954	FOXJ3	forkhead box J3	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323400	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:7240710	20180130	OMIM			
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18414213|PMID:19763152|PMID:20307669|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:27178444|PMID:27665122|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29079548|PMID:29193673|PMID:29345162|PMID:29588463|PMID:29610177|PMID:29715191|PMID:30029497|PMID:30064963|PMID:30311386|PMID:30488743|PMID:31607746|PMID:31630094|PMID:31638414|PMID:31755649|PMID:32531870|PMID:32581362|PMID:32944671|PMID:32973878|PMID:9063741|PMID:9409865|PMID:9536098
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome | ClinVar Annotator: match by term: Alstrom's syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27486776|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:29976977|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:31106028|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:32349990|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33669459|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148947|PMID:34547244|PMID:34906470|PMID:34935411|PMID:9063741|PMID:9409865|PMID:9536098
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21541333|PMID:21877133|PMID:21897446|PMID:21901789|PMID:21943378|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22533542|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23033341|PMID:23188138|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25469153|PMID:25533962|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26566502|PMID:26633542|PMID:26636822|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27375279|PMID:27486776|PMID:27523285|PMID:27665122|PMID:28112973|PMID:28145517|PMID:28224992|PMID:28402684|PMID:28432734|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:2871766|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29610177|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31638414|PMID:31755649|PMID:31810438|PMID:31898538|PMID:31980526|PMID:32037395|PMID:32349990|PMID:32396277|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32945434|PMID:32973878|PMID:33179747|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34906470|PMID:34935411|PMID:35140360|PMID:35211159|PMID:35352813|PMID:35764379|PMID:35786123|PMID:36109815|PMID:36162988|PMID:36178741|PMID:36252119|PMID:36413997|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:38546151|PMID:38674329|PMID:9063741|PMID:9409865|PMID:9536098
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: ALMS1-related condition | ClinVar Annotator: match by term: ALSTROM SYNDROME | ClinVar Annotator: match by term: Alstrom Syndrome | ClinVar Annotator: match by term: Alstrom syndrome	PMID:11941369|PMID:11941370|PMID:15689433|PMID:16199547|PMID:16720663|PMID:17576681|PMID:17594715|PMID:17850632|PMID:18038714|PMID:18154657|PMID:18195218|PMID:18414213|PMID:18654604|PMID:19283855|PMID:19763152|PMID:20307669|PMID:21128906|PMID:21157496|PMID:21158358|PMID:21518413|PMID:21541333|PMID:21897446|PMID:22406018|PMID:22447358|PMID:22498418|PMID:22555271|PMID:22773737|PMID:22876109|PMID:23652376|PMID:23661369|PMID:23847139|PMID:24033266|PMID:24049434|PMID:24257694|PMID:2440063|PMID:24400638|PMID:24462884|PMID:24503146|PMID:24534407|PMID:24595103|PMID:24690487|PMID:24830966|PMID:25268133|PMID:25296579|PMID:25468891|PMID:25640679|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:25999675|PMID:26010121|PMID:26047050|PMID:26066530|PMID:26077327|PMID:26082521|PMID:26104972|PMID:26111748|PMID:26239645|PMID:26283575|PMID:26285675|PMID:26467025|PMID:26496393|PMID:26535225|PMID:26566502|PMID:26633542|PMID:26704672|PMID:26992781|PMID:27178444|PMID:27375279|PMID:27486776|PMID:27523285|PMID:28112973|PMID:28224992|PMID:28402684|PMID:28432734|PMID:28453600|PMID:28456785|PMID:28492532|PMID:28502102|PMID:28518168|PMID:28573831|PMID:28610912|PMID:28663568|PMID:28717663|PMID:28724398|PMID:28912962|PMID:29079548|PMID:29193673|PMID:29302074|PMID:29345162|PMID:29588463|PMID:29590070|PMID:29681726|PMID:29715191|PMID:29718281|PMID:29961767|PMID:29970176|PMID:30029497|PMID:30054919|PMID:30064963|PMID:30311386|PMID:30421101|PMID:30488743|PMID:30513137|PMID:30532227|PMID:30600744|PMID:30826590|PMID:31106028|PMID:31308072|PMID:31456290|PMID:31607746|PMID:31624253|PMID:31630094|PMID:31755649|PMID:31898538|PMID:31980526|PMID:32349990|PMID:32451492|PMID:32461654|PMID:32483926|PMID:32503575|PMID:32531858|PMID:32531870|PMID:32581362|PMID:32682410|PMID:32746448|PMID:32856788|PMID:32867697|PMID:32870709|PMID:32944671|PMID:32973878|PMID:33179747|PMID:33363936|PMID:33410256|PMID:33502066|PMID:33608557|PMID:33669459|PMID:33782391|PMID:33924909|PMID:33969109|PMID:33980730|PMID:33981653|PMID:34147365|PMID:34148116|PMID:34148947|PMID:34547244|PMID:34716235|PMID:34795310|PMID:34828430|PMID:34906470|PMID:35140360|PMID:35211159|PMID:35321175|PMID:35352813|PMID:35702577|PMID:35756836|PMID:35764379|PMID:35786123|PMID:36162988|PMID:36178741|PMID:36206858|PMID:36252119|PMID:36413997|PMID:36440223|PMID:36460718|PMID:36646731|PMID:36685911|PMID:36927560|PMID:37321834|PMID:37439038|PMID:37798099|PMID:38378129|PMID:38546151|PMID:38674329|PMID:38806112|PMID:39138584|PMID:39264219|PMID:39884403|PMID:40676683|PMID:9536098
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050473	Alstrom syndrome	susceptibility	ISO	RGD:1323128	D	RGD:9068941	20200609	RGD		DNA:frameshift mutations, nonsense mutations	PMID:11941369|REF_RGD_ID:1601169
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cone-rod degeneration | ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:26047050|PMID:26077327|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29588463|PMID:29718281
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050578	occult macular dystrophy		ISO	RGD:1323128	D	RGD:8554872	20250729	ClinVar		ClinVar Annotator: match by term: Occult maculopathy	PMID:25741868|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:24595103|PMID:25741868
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Obstructive sleep apnea syndrome	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0060249	scoliosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Scoliosis	PMID:25741868|PMID:28492532|PMID:39138584
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0060260	ptosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0080046	Stickler syndrome		ISO	RGD:1323128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Stickler syndrome	PMID:17594715|PMID:28492532|PMID:30311386
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947|PMID:35764379
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:17594715|PMID:25706677|PMID:25741868|PMID:25846608|PMID:28492532|PMID:29718281|PMID:30718709|PMID:32037395|PMID:34906470
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1059	intellectual disability		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:35764379|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1115	sarcoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hyperlipidemia	PMID:22876109|PMID:25741868|PMID:28492532|PMID:32483926
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:11782	astigmatism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Astigmatism	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:11830	myopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Myopia	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Nephrotic syndrome	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1287	cardiovascular system disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the cardiovascular system	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Idiopathic dilated cardiomyopathy	PMID:25741868|PMID:28145517|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1324	lung cancer		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:14250	Down syndrome		ISO	RGD:1323128	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Down syndrome	PMID:28492532|PMID:30311386
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1432	blindness		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Blindness	PMID:17594715|PMID:25741868|PMID:25846608|PMID:26111748|PMID:27665122|PMID:27788217|PMID:28407410|PMID:28492532|PMID:28717663|PMID:30484169|PMID:32503575|PMID:38576930
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1459	hypothyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypothyroidism	PMID:25741868|PMID:28492532|PMID:39138584
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1596	depressive disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Depression	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1891	optic nerve disease		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormal optic nerve morphology	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1909	melanoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:21157496|PMID:21897446|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28492532|PMID:30064963|PMID:35764379
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:2030	anxiety disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anxiety	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:2841	asthma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Asthma	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:3070	high grade glioma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:3138	acanthosis nigricans		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acanthosis nigricans	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:3275	thymoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	PMID:24400638|PMID:25741868|PMID:25846608|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:535	sleep disorder		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:5723	optic atrophy		ISO	RGD:1323128	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:7998	hyperthyroidism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperthyroidism	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:83	cataract		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:8501	fundus dystrophy		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18154657|PMID:18414213|PMID:21157496|PMID:21518413|PMID:21897446|PMID:22498418|PMID:23188138|PMID:23847139|PMID:24033266|PMID:24462884|PMID:24503146|PMID:24595103|PMID:24830966|PMID:25296579|PMID:25706677|PMID:25741868|PMID:25846608|PMID:25864795|PMID:26066530|PMID:26082521|PMID:26283575|PMID:26566502|PMID:27375279|PMID:28112973|PMID:28402684|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28573831|PMID:28610912|PMID:28717663|PMID:29193673|PMID:29718281|PMID:30054919|PMID:30064963|PMID:30421101|PMID:30513137|PMID:31456290|PMID:31810438|PMID:31898538|PMID:32451492|PMID:32483926|PMID:32531858|PMID:32870709|PMID:32944671|PMID:33669459|PMID:34148116|PMID:34148947|PMID:34795310|PMID:34906470|PMID:35764379|PMID:38674329|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9000343	Vision Disorders		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Visual impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9001733	Tinnitus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tinnitus	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002453	Cafe-au-Lait Spots		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cafe-au-lait spot	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9002916	Hyperphagia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyphagia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003137	Photophobia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Photophobia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003507	Premature Birth		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003539	Hyperacusis		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hyperacusis	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9003591	Telecanthus		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Telecanthus	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281|PMID:30311386
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypertriglyceridemia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007661	Dwarfism		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Insulin resistance	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007736	Vertigo		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Vertigo	PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9007874	Liver Failure		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Liver failure	PMID:25741868|PMID:28492532
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1323128	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:17594715|PMID:25741868|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:39138584|PMID:40676683
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008296	Eye Abnormalities		ISO	RGD:1323128	D	RGD:8554872	20220426	ClinVar		ClinVar Annotator: match by term: Abnormality of the eye	PMID:25741868
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008617	Lethargy		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lethargy	PMID:25741868|PMID:28492532|PMID:39138584
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008818	Retinal Dystrophy, Early Onset Severe		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Early-onset severe retinal dystrophy	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:18154657|PMID:21157496|PMID:21943378|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25533962|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26104972|PMID:26239645|PMID:26283575|PMID:26467025|PMID:26636822|PMID:27178444|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:29610177
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9351	diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus | ClinVar Annotator: match by term: Monogenic diabetes	PMID:18154657|PMID:21157496|PMID:22876109|PMID:24033266|PMID:24503146|PMID:24830966|PMID:25296579|PMID:25741868|PMID:25846608|PMID:26082521|PMID:26239645|PMID:26283575|PMID:26467025|PMID:28432734|PMID:28492532|PMID:28502102|PMID:28717663|PMID:30421101|PMID:32483926|PMID:32746448|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:22876109|PMID:24033266|PMID:25741868|PMID:25846608|PMID:28492532|PMID:30421101|PMID:33669459|PMID:34148947|PMID:35764379
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1323128	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs1320374, rs1881245, rs3820700 (human)	PMID:16601972|REF_RGD_ID:8696017
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9452	steatotic liver disease		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatic steatosis	PMID:17594715|PMID:22876109|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9650	pathologic nystagmus		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nystagmus | ClinVar Annotator: match by term: Vertical nystagmus	PMID:11941370|PMID:17594715|PMID:18414213|PMID:24462884|PMID:25741868|PMID:28112973|PMID:28402684|PMID:28492532|PMID:29718281|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9834	hyperopia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypermetropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9840	esotropia		ISO	RGD:1323128	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Esotropia	PMID:17594715|PMID:25741868|PMID:28492532|PMID:31607746
12166001	ALMS1	ALMS1 centrosome and basal body associated protein	gene	DOID:9970	obesity		ISO	RGD:1323128	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Obesity	PMID:11941369|PMID:11941370|PMID:16720663|PMID:17594715|PMID:18414213|PMID:21157496|PMID:21897446|PMID:24462884|PMID:25741868|PMID:25846608|PMID:26066530|PMID:28112973|PMID:28402684|PMID:28492532|PMID:28610912|PMID:29718281|PMID:30064963|PMID:31607746|PMID:35764379|PMID:40676683
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:0050745	diffuse large B-cell lymphoma		ISO	RGD:1315129	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27356265
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:1612	breast cancer		ISO	RGD:1315129	D	RGD:9068941	20200609	RGD		DNA:amplification:cds (human)	PMID:12169396|REF_RGD_ID:9850147
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:5041	esophageal cancer		ISO	RGD:1315129	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166051	BCAS2	BCAS2 pre-mRNA processing factor	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1315129	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:0050741	alcohol dependence	susceptibility	ISO	RGD:732520	D	RGD:9068941	20240229	RGD		DNA:SNP::(rs6486120) (human)	PMID:20554694|REF_RGD_ID:401976551
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:0081088	chronic myelogenous leukemia, BCR-ABL1 positive		ISO	RGD:732520	D	RGD:9068941	20260409	CTD		CTD Direct Evidence: marker/mechanism	PMID:16999817
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:11054	urinary bladder cancer		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:1115	sarcoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:11718	antidepressant type abuse		ISO	RGD:62295	D	RGD:9068941	20240627	RGD		mRNA:increased expression:hippocampal formation (mouse)	PMID:15994025|REF_RGD_ID:405866348
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:13580	cholestasis		ISO	RGD:62003	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cholangiocyte	PMID:21757639|REF_RGD_ID:10043349
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:3312	bipolar disorder	sexual_dimorphism	ISO	RGD:732520	D	RGD:9068941	20240627	RGD		associated with Alcohol-related disorders;DNA:SNP::(rs11600996) (Human)	PMID:30121446|REF_RGD_ID:405866353
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:4362	cervical cancer		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:5041	esophageal cancer		ISO	RGD:732520	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:732520	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:809	cocaine abuse		ISO	RGD:62295	D	RGD:9068941	20240627	RGD		mRNA:decreased expression:caudate-putamen (mouse)	PMID:15994025|REF_RGD_ID:405866348
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9002644	Premature Aging		ISO	RGD:62295	D	RGD:9068941	20200609	RGD			PMID:16847346|REF_RGD_ID:10043345
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9002735	alcohol withdrawal syndrome	severity	ISO	RGD:732520	D	RGD:9068941	20240302	RGD		mRNA:decreased expression:peripheral blood mononuclear cells (human)	PMID:20735373|REF_RGD_ID:401976556
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9003676	Brain Hypoxia-Ischemia		ISO	RGD:62003	D	RGD:9068941	20200609	RGD		protein:increased expression:pineal gland	PMID:23336172|REF_RGD_ID:10043348
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:40720646
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:62003	D	RGD:9068941	20200609	RGD			PMID:18624957|REF_RGD_ID:2301030
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:732520	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:732520	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: therapeutic	PMID:36602574
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9007456	Female Infertility		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:20200203
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:24652800
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732520	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9278	hyperargininemia		ISO	RGD:732520	D	RGD:9068941	20230406	CTD		CTD Direct Evidence: marker/mechanism	PMID:27056296
12166065	ARNTL	aryl hydrocarbon receptor nuclear translocator like	gene	DOID:9351	diabetes mellitus		ISO	RGD:62295	D	RGD:9068941	20220825	MouseDO			
12166102	OGA	O-GlcNAcase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166102	OGA	O-GlcNAcase	gene	DOID:10534	stomach cancer		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166102	OGA	O-GlcNAcase	gene	DOID:1115	sarcoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166102	OGA	O-GlcNAcase	gene	DOID:1324	lung cancer		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166102	OGA	O-GlcNAcase	gene	DOID:3070	high grade glioma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12166102	OGA	O-GlcNAcase	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12166102	OGA	O-GlcNAcase	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12166102	OGA	O-GlcNAcase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166102	OGA	O-GlcNAcase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166102	OGA	O-GlcNAcase	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:621077	D	RGD:9068941	20200609	RGD			PMID:16899550|REF_RGD_ID:2305957
12166102	OGA	O-GlcNAcase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166102	OGA	O-GlcNAcase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166102	OGA	O-GlcNAcase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732641	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:10908	hydrocephalus		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:3275	thymoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604365	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:630	genetic disease		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:31785789|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:25741868
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9000777	Mitochondrial Cardiomyopathy		ISO	RGD:1604365	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, mitochondrial	PMID:25741868
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9001999	Agenesis of Corpus Callosum		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Corpus callosum agenesis	PMID:24033266|PMID:25741868|PMID:27523597|PMID:27523598|PMID:28492532|PMID:30384889|PMID:33028643|PMID:34400813
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:25741868|PMID:28492532
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9003269	Sudden Cardiac Failure, Infantile		ISO	RGD:1604365	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: PPA2-Related Disorders | ClinVar Annotator: match by term: SUDDEN CARDIAC FAILURE, INFANTILE | ClinVar Annotator: match by term: Sudden cardiac failure, infantile | ClinVar Annotator: match by term: mitochondrial cardiomyopathy and sudden cardiac failure	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:7240710	20190315	OMIM			
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9004710	Alcohol-Induced Sudden Cardiac Failure		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: PPA2-related condition | ClinVar Annotator: match by term: Sudden cardiac failure, alcohol-induced	PMID:25741868|PMID:27523597|PMID:28492532|PMID:31705601|PMID:33826954|PMID:34400813|PMID:34758253|PMID:34930847|PMID:39860040
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868|PMID:28492532|PMID:34400813
12166123	PPA2	inorganic pyrophosphatase 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604365	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:0050861	colorectal adenocarcinoma	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:colon (human)	PMID:27729429|REF_RGD_ID:152995521
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with Lymphatic Metastasis;protein:increased expression:gastric tumor, lymph node (human)	PMID:32588907|REF_RGD_ID:152995444
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:gastric tumor (human)	PMID:26159923|REF_RGD_ID:152995448
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:1115	sarcoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:1324	lung cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Neoplasm	PMID:35101336
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:1909	melanoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:colon (human)	PMID:24244675|REF_RGD_ID:152995458
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		human cells in mouse model	PMID:20226010|REF_RGD_ID:152995494
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:219	colon cancer	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA:increased expression:colon (human)	PMID:31932471|REF_RGD_ID:152995462
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with lymphatic metastasis; protein:increased expression:breast tumor, lymph node (human)	PMID:20978191|REF_RGD_ID:152995469
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3121	gallbladder cancer		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		DNA:CNV, amplification:exon (human)	PMID:24508317|REF_RGD_ID:152995522
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3275	thymoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3319	lymphangioleiomyomatosis		ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:lung (human)	PMID:29885404|REF_RGD_ID:152995523
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:30119206|REF_RGD_ID:152995460
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:esophagus (human)	PMID:32642408|REF_RGD_ID:152995512
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3748	esophagus squamous cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		protein:increased expression:esophagus (human)	PMID:28132115|REF_RGD_ID:152995470
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:4362	cervical cancer		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1604194	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with Neoplasm Metastasis; protein:increased expression:lung, lymph node (human)	PMID:31454632|REF_RGD_ID:152995447
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:5409	lung small cell carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		DNA:CNV, amplification:exon (human)	PMID:27863413|REF_RGD_ID:152995517
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1604194	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:630	genetic disease		ISO	RGD:1604194	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA, protein:increased expression:liver (human)	PMID:25371154|REF_RGD_ID:152995471
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:8649	tongue cancer	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		protein:increased expression:tongue (human)	PMID:25749387|REF_RGD_ID:152995520
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		associated with breast ductal carcinoma; protein:increased expression:breast tumor, lymph node (human)	PMID:20978191|REF_RGD_ID:152995469
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9002170	Experimental Neoplasms	disease_progression	ISO	RGD:1556939	D	RGD:9068941	20220623	RGD			PMID:24244675|REF_RGD_ID:152995458
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9006618	Liver Metastasis		ISO	RGD:1556939	D	RGD:9068941	20220623	RGD			PMID:30404068|REF_RGD_ID:152995463
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9006618	Liver Metastasis	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		mRNA:increased expression:liver (human)	PMID:30404068|REF_RGD_ID:152995463
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1556939	D	RGD:9068941	20220630	RGD			PMID:29809146|REF_RGD_ID:152995516
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9009121	lung metastasis		ISO	RGD:1604194	D	RGD:9068941	20220623	RGD		human cells in mouse model	PMID:20978191|REF_RGD_ID:152995469
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1604194	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166140	RICTOR	RPTOR independent companion of MTOR complex 2	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1604194	D	RGD:9068941	20220630	RGD		associated with Lymphatic Metastasis; protein:increased expression:colon (human)	PMID:27063170|REF_RGD_ID:152995519
12166192	ZNF622	zinc finger protein 622	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166192	ZNF622	zinc finger protein 622	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166192	ZNF622	zinc finger protein 622	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12166192	ZNF622	zinc finger protein 622	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12166192	ZNF622	zinc finger protein 622	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166192	ZNF622	zinc finger protein 622	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166192	ZNF622	zinc finger protein 622	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166192	ZNF622	zinc finger protein 622	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1319325	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Breast cancer, familial	
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0060233	cardiofaciocutaneous syndrome		ISO	RGD:1343782	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardio-facio-cutaneous syndrome	PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0060260	ptosis		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Ptosis	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0060586	Noonan syndrome 8		ISO	RGD:1343782	D	RGD:7240710	20180130	OMIM			
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0060586	Noonan syndrome 8		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition	PMID:17576681|PMID:23765226|PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26518681|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:27993330|PMID:28323383|PMID:28347726|PMID:28425981|PMID:28492532|PMID:28554332|PMID:28748642|PMID:29402968|PMID:29734338|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30872527|PMID:31040167|PMID:31355538|PMID:31573083|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33258288|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:34906519|PMID:35352813|PMID:35418694|PMID:36274670|PMID:37568403|PMID:38004723|PMID:7109146|PMID:9536098
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0070648	cherubism		ISO	RGD:1343782	D	RGD:8554872	20250805	ClinVar		ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0080690	RASopathy		ISO	RGD:1343782	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:23791108|PMID:24033266|PMID:2439608|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24901346|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:28347726|PMID:28492532|PMID:29158550|PMID:29402968|PMID:29734338|PMID:30105547|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30898653|PMID:31040167|PMID:31219622|PMID:31292302|PMID:32304219|PMID:32396283|PMID:32860008|PMID:33144663|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:7109146|PMID:8462668
12166231	RIT1	Ras like without CAAX 1	gene	DOID:0080690	RASopathy		ISO	RGD:1343782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: RASopathy | ClinVar Annotator: match by term: rasopathies	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:28347726|PMID:28425981|PMID:28492532|PMID:29734338|PMID:30293990|PMID:30712878|PMID:30732632|PMID:30872527|PMID:31040167|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34906519|PMID:37568403|PMID:7109146
12166231	RIT1	Ras like without CAAX 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166231	RIT1	Ras like without CAAX 1	gene	DOID:1115	sarcoma		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:23765226|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25741868|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27993330|PMID:28492532|PMID:30872527|PMID:32766847
12166231	RIT1	Ras like without CAAX 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:28347726|PMID:28492532|PMID:32766847|PMID:33128510|PMID:33794220
12166231	RIT1	Ras like without CAAX 1	gene	DOID:1657	ventricular septal defect		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:1826	epilepsy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
12166231	RIT1	Ras like without CAAX 1	gene	DOID:1882	atrial heart septal defect		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atrial septal defect	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:2843	long QT syndrome		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Prolonged QT interval	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1343782	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome	PMID:23765226|PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:24896146|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25294908|PMID:25741868|PMID:25959749|PMID:26242988|PMID:26446362|PMID:2657980|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27109146|PMID:27226556|PMID:27699752|PMID:27993330|PMID:28347726|PMID:28492532|PMID:29402968|PMID:29493581|PMID:29734338|PMID:30266093|PMID:30293990|PMID:30712878|PMID:30872527|PMID:31040167|PMID:31355538|PMID:32304219|PMID:32766847|PMID:33128510|PMID:33144663|PMID:33190430|PMID:33452774|PMID:33794220|PMID:34008892|PMID:34237269|PMID:34306696|PMID:34358384|PMID:35101336|PMID:35418694|PMID:36274670|PMID:37568403|PMID:7109146|PMID:8462668
12166231	RIT1	Ras like without CAAX 1	gene	DOID:4362	cervical cancer		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166231	RIT1	Ras like without CAAX 1	gene	DOID:4977	lymphedema		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:535	sleep disorder		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sleep disturbance	PMID:25741868|PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:630	genetic disease		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:28347726|PMID:28492532|PMID:32766847|PMID:33128510|PMID:33794220
12166231	RIT1	Ras like without CAAX 1	gene	DOID:6420	pulmonary valve stenosis		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonic stenosis	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25741868|PMID:26446362|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28347726|PMID:28492532|PMID:29402968|PMID:32766847|PMID:33128510|PMID:33794220
12166231	RIT1	Ras like without CAAX 1	gene	DOID:684	hepatocellular carcinoma	ameliorates	ISO	RGD:1343782	D	RGD:9068941	20220721	RGD		human cells in mouse model	PMID:31247273|REF_RGD_ID:152999016
12166231	RIT1	Ras like without CAAX 1	gene	DOID:8488	polyhydramnios		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Polyhydramnios	PMID:23791108|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27226556|PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9000096	Lung Agenesis		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pulmonary hypoplasia	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9000323	Biventricular Hypertrophy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Biventricular hypertrophy	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9000727	Syncope		ISO	RGD:1343782	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: fainting	PMID:23791108|PMID:24939608|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27226556|PMID:28492532|PMID:34008892
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1343782	D	RGD:9068941	20220721	RGD		associated with esophagus squamous cell carcinoma; human cells in mouse model	PMID:30348939|REF_RGD_ID:152999018
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:23791108|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27226556|PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9002647	Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome		ISO	RGD:1343782	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Megalencephaly-capillary malformation-polymicrogyria syndrome	PMID:24469055|PMID:25741868|PMID:28492532
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9003133	Hypertelorism		ISO	RGD:1343782	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hypertelorism	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9003507	Premature Birth		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Premature birth	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Left ventricular hypertrophy	PMID:24033266|PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:28554332|PMID:29734338
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9005745	Stillbirth		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Stillbirth	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9005883	Pleural Effusion		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pleural effusion	PMID:25049390|PMID:25741868|PMID:26714497|PMID:26757980|PMID:27101134|PMID:28492532|PMID:29402968
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1343782	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:23791108|PMID:24033266|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26518681|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:28554332|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1343782	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis	PMID:23791108|PMID:24469055|PMID:24803665|PMID:25049390|PMID:25124994|PMID:25741868|PMID:26242988|PMID:26714497|PMID:26757980|PMID:27101134|PMID:27699752|PMID:28492532|PMID:29402968|PMID:29734338|PMID:30266093|PMID:31355538|PMID:33190430|PMID:34358384|PMID:35418694|PMID:36274670
12166231	RIT1	Ras like without CAAX 1	gene	DOID:9009050	Hypocalcemia		ISO	RGD:1343782	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypocalcemia	PMID:25741868|PMID:26518681|PMID:27101134|PMID:28492532|PMID:29734338
12166242	CACNG4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166242	CACNG4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628804	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:sinoatrial node:	PMID:27096430|REF_RGD_ID:13524560
12166242	CACNG4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166242	CACNG4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:735495	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166242	CACNG4	calcium voltage-gated channel auxiliary subunit gamma 4	gene	DOID:9408	acute myocardial infarction		ISO	RGD:735495	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood:	PMID:27746059|REF_RGD_ID:13524557
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:0111919	spermatogenic failure 38		ISO	RGD:1350350	D	RGD:7240710	20190619	OMIM			
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:0111919	spermatogenic failure 38		ISO	RGD:1350350	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: ARMC2-related disorder | ClinVar Annotator: match by term: SPERMATOGENIC FAILURE 38 | ClinVar Annotator: match by term: Spermatogenic failure 38	PMID:25741868|PMID:30686508
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:1909	melanoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:2394	ovarian cancer		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:4362	cervical cancer		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166250	ARMC2	armadillo repeat containing 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350350	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0050591	tooth agenesis		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypodontia	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0050640	anauxetic dysplasia 1		ISO	RGD:1318482	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:7240710	20190315	OMIM			
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:0080962	anauxetic dysplasia 2		ISO	RGD:1318482	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: ANAUXETIC DYSPLASIA 2 | ClinVar Annotator: match by term: Anauxetic dysplasia 2 | ClinVar Annotator: match by term: POP1-related condition	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532|PMID:30408610
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:1115	sarcoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:1324	lung cancer		ISO	RGD:1318482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:5041	esophageal cancer		ISO	RGD:1318482	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:630	genetic disease		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21455487|PMID:21534943|PMID:25741868|PMID:28067412|PMID:28492532
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1318482	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166278	POP1	POP1 homolog, ribonuclease P/MRP subunit	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1318482	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166308	BBLN	bublin coiled coil protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1342591	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166314	DPF1	double PHD fingers 1	gene	DOID:10534	stomach cancer		ISO	RGD:1606329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166314	DPF1	double PHD fingers 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166314	DPF1	double PHD fingers 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1606329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166314	DPF1	double PHD fingers 1	gene	DOID:9004866	Ataxia		ISO	RGD:1606329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ataxia	PMID:25741868
12166314	DPF1	double PHD fingers 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1606329	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:10534	stomach cancer		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:1115	sarcoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:1324	lung cancer		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:1909	melanoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:3070	high grade glioma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:3275	thymoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:3907	lung squamous cell carcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell lung carcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:4362	cervical cancer		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1346672	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166341	KHSRP	KH-type splicing regulatory protein	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1346672	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:10534	stomach cancer		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:10763	hypertension		ISO	RGD:68580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15220217
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:10763	hypertension		ISO	RGD:68580	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2276047,snp8,rs9886(human)	PMID:15220217|REF_RGD_ID:1626127
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:1909	melanoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:234	colon adenocarcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pancreatic adenocarcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:4362	cervical cancer		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:630	genetic disease		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:68580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:68580	D	RGD:7240710	20180130	OMIM			
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9002202	Opsismodysplasia		ISO	RGD:68580	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: INPPL1-related condition | ClinVar Annotator: match by term: OPSISMODYSPLASIA | ClinVar Annotator: match by term: Opsismodysplasia	PMID:23273567|PMID:23273569|PMID:25741868|PMID:28492532|PMID:28869677|PMID:29276006|PMID:34529350
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:68580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15220217
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:68580	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2276047,snp8(human)	PMID:15220217|REF_RGD_ID:1626127
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:68396	D	RGD:9068941	20200609	RGD			PMID:12453826|REF_RGD_ID:2312442
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9007692	Insulin Resistance		ISO	RGD:68396	D	RGD:9068941	20200609	RGD		associated with Metabolic Syndrome X	PMID:17327370|REF_RGD_ID:2312440
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:68580	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68580	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12086927|PMID:25635986
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68580	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2276047,snp8(human)	PMID:15220217|REF_RGD_ID:1626127
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:68580	D	RGD:9068941	20200609	RGD		DNA:deletion:3' utr (human)	PMID:12086927|REF_RGD_ID:633161
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9970	obesity		ISO	RGD:68580	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs2276047,snp8,rs9886(human)	PMID:15220217|REF_RGD_ID:1626127
12166363	INPPL1	inositol polyphosphate phosphatase like 1	gene	DOID:9993	hypoglycemia		ISO	RGD:68581	D	RGD:9068941	20200609	RGD			PMID:11343120|REF_RGD_ID:737755
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:1115	sarcoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:127	leiomyoma	disease_progression	ISO	RGD:732137	D	RGD:9068941	20200609	RGD		associated with Uterine Neoplasms;protein:increased expression:serum	PMID:7446622|REF_RGD_ID:2314924
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:13129	severe pre-eclampsia	severity	ISO	RGD:732137	D	RGD:9068941	20230525	RGD		mRNA:increased expression:decidua basalis (human)	PMID:24331737|REF_RGD_ID:329845529
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:1612	breast cancer		ISO	RGD:732137	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:10508127|REF_RGD_ID:2314923
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:1909	melanoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:4450	renal cell carcinoma		ISO	RGD:732137	D	RGD:9068941	20200609	RGD			PMID:17692401|REF_RGD_ID:2314919
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:5041	esophageal cancer		ISO	RGD:732137	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:8488	polyhydramnios		ISO	RGD:732137	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:1789335|REF_RGD_ID:2311543
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:732137	D	RGD:9068941	20200609	RGD			PMID:1789335|REF_RGD_ID:2311543
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732137	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary	PMID:15907336|REF_RGD_ID:2314920
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9002762	Ovarian Neoplasms	disease_progression	ISO	RGD:732137	D	RGD:9068941	20200609	RGD			PMID:7446622|REF_RGD_ID:2314924
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9004265	Endometrioid Carcinomas		ISO	RGD:732137	D	RGD:9068941	20200609	RGD		associated with Endometrial Neoplasms	PMID:15218296|REF_RGD_ID:2314922
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:621752	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:16619500|REF_RGD_ID:1582109
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732137	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16619500
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:732137	D	RGD:9068941	20200609	RGD			PMID:15491750|REF_RGD_ID:2314921
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9008023	Memory Disorders		ISO	RGD:732137	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11730987
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:732137	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:621752	D	RGD:9068941	20200609	RGD			PMID:16967782|REF_RGD_ID:2306436
12166395	LNPEP	leucyl and cystinyl aminopeptidase	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:732137	D	RGD:9068941	20200609	RGD			PMID:11701721|REF_RGD_ID:2311542
12166423	S100A13	S100 calcium binding protein A13	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166423	S100A13	S100 calcium binding protein A13	gene	DOID:10534	stomach cancer		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166423	S100A13	S100 calcium binding protein A13	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166423	S100A13	S100 calcium binding protein A13	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166423	S100A13	S100 calcium binding protein A13	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1312636	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:10534	stomach cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:1324	lung cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:1909	melanoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:3275	thymoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:4362	cervical cancer		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:6354	chronic lymphocytic leukemia/small lymphocytic lymphoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Chronic lymphocytic leukemia/small lymphocytic lymphoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:25741868|PMID:39480921
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166438	CCT6A	chaperonin containing TCP1 subunit 6A	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1312394	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:0050424	familial adenomatous polyposis		ISO	RGD:737492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:10534	stomach cancer		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:1115	sarcoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:1324	lung cancer		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:1909	melanoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:2957	pulmonary tuberculosis		ISO	RGD:737492	D	RGD:9068941	20201225	RGD		protein:increased expression:urine	PMID:29636444|REF_RGD_ID:40903003
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:3275	thymoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:737492	D	RGD:9068941	20210115	RGD		protein:increased processing:serum	PMID:23436019|REF_RGD_ID:40907060
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:332	amyotrophic lateral sclerosis	disease_progression	ISO	RGD:70881	D	RGD:9068941	20210115	RGD		protein:increased expression, increased processing:serum	PMID:23436019|REF_RGD_ID:40907060
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:4362	cervical cancer		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:5041	esophageal cancer		ISO	RGD:737492	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:5082	liver cirrhosis		ISO	RGD:737492	D	RGD:9068941	20201225	RGD		associated with hepatitis B;protein:increased expression:serum	PMID:24836184|REF_RGD_ID:40903002
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:5844	myocardial infarction		ISO	RGD:737492	D	RGD:9068941	20200609	RGD			PMID:10486281|REF_RGD_ID:1582334
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:737492	D	RGD:9068941	20201225	RGD		associated with hepatitis B;protein:decreased expression:serum	PMID:24836184|REF_RGD_ID:40903002
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:737492	D	RGD:9068941	20200609	RGD			PMID:10486281|REF_RGD_ID:1582334
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9000039	Spinal Cord Injuries	severity	ISO	RGD:70881	D	RGD:9068941	20210115	RGD		protein:decreased expression:cerebrospinal fluid	PMID:21559420|REF_RGD_ID:40907059
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:737492	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypercholesterolemia, susceptibility to	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9000808	Hypercholesterolemia	susceptibility	ISO	RGD:737492	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs3821831, homozygous C allele associated with higher total and HDL cholesterol	PMID:14661079|REF_RGD_ID:1627650
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:70881	D	RGD:9068941	20210115	RGD		protein:increased expression:serum	PMID:25200834|REF_RGD_ID:10449102
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:737492	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25200834
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9003219	Invasive Pulmonary Aspergillosis		ISO	RGD:70881	D	RGD:9068941	20201225	RGD		protein:increased expression:respiratory system fluid/secretion, serum	PMID:24360996|REF_RGD_ID:40903005
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9004083	Familial Pancreatic Carcinoma		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial pancreatic carcinoma	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9005036	Bacteremia		ISO	RGD:737493	D	RGD:9068941	20210115	RGD		protein:increased expression:liver, serum	PMID:33348064|REF_RGD_ID:40907057
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:737492	D	RGD:9068941	20201225	RGD		protein:increased expression:serum	PMID:24836184|REF_RGD_ID:40903002
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:737492	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166456	ITIH4	inter-alpha-trypsin inhibitor heavy chain 4	gene	DOID:9970	obesity		ISO	RGD:70881	D	RGD:9068941	20210115	RGD			PMID:22134356|REF_RGD_ID:11352709
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:733688	D	RGD:7240710	20180130	OMIM			
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:0111679	glutamate formiminotransferase deficiency		ISO	RGD:733688	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Formiminoglutamic aciduria | ClinVar Annotator: match by term: GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY | ClinVar Annotator: match by term: Glutamate formiminotransferase deficiency	PMID:12815595|PMID:16199547|PMID:17576681|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:29869163|PMID:30679813|PMID:30740726|PMID:9536098
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:1059	intellectual disability		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:1115	sarcoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	PMID:25741868
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:1324	lung cancer		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:1909	melanoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:3275	thymoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	PMID:25741868|PMID:28492532
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:5041	esophageal cancer		ISO	RGD:733688	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	PMID:25741868|PMID:28492532
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:630	genetic disease		ISO	RGD:733688	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12815595|PMID:25741868|PMID:26633545|PMID:28492532|PMID:29178637|PMID:30679813|PMID:30740726
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:8584	Burkitt lymphoma		ISO	RGD:733688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23143597
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:733688	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:9005024	Hereditary Adrenocortical Carcinoma		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Adrenocortical carcinoma, hereditary	PMID:25741868|PMID:28492532
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166457	FTCD	formimidoyltransferase cyclodeaminase	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:733688	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166494	CLEC1B	C-type lectin domain family 1 member B	gene	DOID:0080600	COVID-19		ISO	RGD:1346944	D	RGD:9068941	20200702	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12166494	CLEC1B	C-type lectin domain family 1 member B	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:1324	lung cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:1909	melanoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:2394	ovarian cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:4362	cervical cancer		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166521	FAM120C	family with sequence similarity 120 member C	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1603035	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1115	sarcoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1324	lung cancer		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:1909	melanoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5041	esophageal cancer		ISO	RGD:1350631	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1350631	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166544	APEX2	apurinic/apyrimidinic endodeoxyribonuclease 2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1350631	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166555	C7H1orf53	chromosome 7 C1orf53 homolog	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606868	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166593	MEIOSIN	meiosis initiator	gene	DOID:6171	uterine carcinosarcoma		ISO	RGD:9479475	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine carcinosarcoma	
12166610	C4H10orf105	chromosome 4 C10orf105 homolog	gene	DOID:0050439	Usher syndrome		ISO	RGD:1346064	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:12075507|PMID:15537665|PMID:18273900|PMID:21228398|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12166610	C4H10orf105	chromosome 4 C10orf105 homolog	gene	DOID:0050439	Usher syndrome		ISO	RGD:1346064	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Dystrophia retinae pigmentosa-dysostosis syndrome | ClinVar Annotator: match by term: Hallgren syndrome | ClinVar Annotator: match by term: Retinitis pigmentosa and congenital deafness | ClinVar Annotator: match by term: Usher syndrome	PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:28492532
12166610	C4H10orf105	chromosome 4 C10orf105 homolog	gene	DOID:0110467	autosomal recessive nonsyndromic deafness 12		ISO	RGD:1346064	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: ATP2B2-related disorder | ClinVar Annotator: match by term: Deafness, autosomal recessive 12	PMID:11138009|PMID:12075507|PMID:12522556|PMID:15537665|PMID:15660226|PMID:16199547|PMID:16679490|PMID:17850630|PMID:18273900|PMID:18429043|PMID:19683999|PMID:20146813|PMID:21228398|PMID:21569298|PMID:21940737|PMID:22135276|PMID:22899989|PMID:24033266|PMID:24875298|PMID:25468891|PMID:25741868|PMID:26467025|PMID:27610647|PMID:28492532|PMID:28847902|PMID:30303587|PMID:31445392|PMID:31541171|PMID:35020051
12166683	DOK6	docking protein 6	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166683	DOK6	docking protein 6	gene	DOID:10534	stomach cancer		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166683	DOK6	docking protein 6	gene	DOID:1059	intellectual disability		ISO	RGD:1346452	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12166683	DOK6	docking protein 6	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166683	DOK6	docking protein 6	gene	DOID:1909	melanoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166683	DOK6	docking protein 6	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166683	DOK6	docking protein 6	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1346452	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166683	DOK6	docking protein 6	gene	DOID:630	genetic disease		ISO	RGD:1346452	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12166694	FKTN	fukutin	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166694	FKTN	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISO	RGD:1320791	D	RGD:7240710	20180130	OMIM			
12166694	FKTN	fukutin	gene	DOID:0050559	Fukuyama congenital muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 | ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED | ClinVar Annotator: match by term: Walker-Warburg Syndrome, Fktn-Related	PMID:14627679|PMID:17044012|PMID:17559086|PMID:17878207|PMID:18752264|PMID:19015585|PMID:20620061|PMID:21102627|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:28680109|PMID:29590070|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:30060766|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:16199547|PMID:17034757|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22958903|PMID:23582336|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:28166811|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31983221|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32746448|PMID:32969603|PMID:33048919|PMID:34008892|PMID:34120883|PMID:35131284|PMID:35175440|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37834164|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250506	ClinVar		ClinVar Annotator: match by term: Muscle eye brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37227348|PMID:37834164|PMID:9|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20250701	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19342235|PMID:19396839|PMID:19842201|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21191726|PMID:21228398|PMID:21520333|PMID:22037554|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26130484|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26636822|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27357428|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:28798025|PMID:29101272|PMID:29447731|PMID:29590070|PMID:29907797|PMID:30060766|PMID:30775854|PMID:30975432|PMID:31534214|PMID:31742715|PMID:31756055|PMID:31862442|PMID:31983221|PMID:32721234|PMID:32746448|PMID:32969603|PMID:33048919|PMID:33200426|PMID:34008892|PMID:34120883|PMID:35026164|PMID:35131284|PMID:35175440|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:37227348|PMID:37834164|PMID:9|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21228398|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:23757202|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17878207|PMID:18177472|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Muscle-eye-brain disease | ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:22958903|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27332903|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28759667|PMID:28785732|PMID:29101272|PMID:29447731|PMID:30060766|PMID:30775854|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36199823|PMID:36964972|PMID:37087885|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Pagon syndrome | ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy | ClinVar Annotator: match by term: Walker-Warburg syndrome	PMID:10545611|PMID:11165248|PMID:12601708|PMID:14627679|PMID:15833426|PMID:16199547|PMID:17034757|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18414213|PMID:18752264|PMID:18834683|PMID:19015585|PMID:19179078|PMID:19266496|PMID:19299310|PMID:19396839|PMID:20620061|PMID:20961758|PMID:21102627|PMID:21520333|PMID:22275357|PMID:22522420|PMID:23582336|PMID:23746544|PMID:24033266|PMID:24144914|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25814170|PMID:25821721|PMID:26350204|PMID:26467025|PMID:26633542|PMID:26809617|PMID:26923585|PMID:27065010|PMID:27124789|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28688748|PMID:28785732|PMID:29101272|PMID:29447731|PMID:29590070|PMID:30060766|PMID:31742715|PMID:31756055|PMID:31983221|PMID:32721234|PMID:32746448|PMID:33200426|PMID:34008892|PMID:35026164|PMID:35131284|PMID:35352813|PMID:35587316|PMID:35743126|PMID:35843586|PMID:36964972|PMID:37087885|PMID:37227348|PMID:37834164|PMID:38634212|PMID:4645488|PMID:9|PMID:9536098|PMID:9690476
12166694	FKTN	fukutin	gene	DOID:0050588	muscular dystrophy-dystroglycanopathy type B1		ISO	RGD:1320792	D	RGD:9068941	20220825	MouseDO		OMIM:613151 | OMIM:613152 | OMIM:613155 | OMIM:613156 | OMIM:615351 | OMIM:616094	
12166694	FKTN	fukutin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30775854|PMID:36199823
12166694	FKTN	fukutin	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:14627679|PMID:17878207|PMID:21102627|PMID:25741868|PMID:26467025|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	PMID:28492532
12166694	FKTN	fukutin	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1320791	D	RGD:9068941	20200609	RGD		DNA:deletion, insertion, missense mutation:exon: c.920G>A (p.R307Q), 1167insA, 1363delG (human)	PMID:17044012|REF_RGD_ID:11576328
12166694	FKTN	fukutin	gene	DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M		ISO	RGD:1320791	D	RGD:7240710	20180130	OMIM			
12166694	FKTN	fukutin	gene	DOID:0110296	autosomal recessive limb-girdle muscular dystrophy type 2M		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4	PMID:10545611|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19342235|PMID:20620061|PMID:20961758|PMID:22275357|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:29590070|PMID:30060766|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
12166694	FKTN	fukutin	gene	DOID:0110443	dilated cardiomyopathy 1B		ISO	RGD:1320791	D	RGD:9068941	20260521	RGD		DNA:insertion, missense mutations:exon:p.R179T (c.536G>C), p.Q358P (c.1073A>C) (human)	PMID:17036286|REF_RGD_ID:11576324
12166694	FKTN	fukutin	gene	DOID:0110444	dilated cardiomyopathy 1X		ISO	RGD:1320791	D	RGD:7240710	20180130	OMIM			
12166694	FKTN	fukutin	gene	DOID:0110444	dilated cardiomyopathy 1X		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, 1X | ClinVar Annotator: match by term: CARDIOMYOPATHY, DILATED, WITH MILD OR NO PROXIMAL MUSCLE WEAKNESS | ClinVar Annotator: match by term: Dilated cardiomyopathy 1X	PMID:10545611|PMID:14627679|PMID:16199547|PMID:17036286|PMID:17044012|PMID:17559086|PMID:17576681|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19179078|PMID:19266496|PMID:20620061|PMID:20961758|PMID:21102627|PMID:22275357|PMID:22522420|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:27521547|PMID:28492532|PMID:28680109|PMID:28785732|PMID:29590070|PMID:30060766|PMID:33200426|PMID:35026164|PMID:35131284|PMID:36005429|PMID:37087885|PMID:37227348|PMID:9|PMID:9536098
12166694	FKTN	fukutin	gene	DOID:0111237	congenital muscular dystrophy-dystroglycanopathy type A1		ISO	RGD:1320791	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: COD-MD syndrome | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:20620061|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:35131284
12166694	FKTN	fukutin	gene	DOID:0112374	muscular dystrophy-dystroglycanopathy		ISO	RGD:1320791	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Congenital muscular dystrophy due to dystroglycanopathy	PMID:17559086|PMID:17878207|PMID:24033266|PMID:25741868|PMID:26467025|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:0112379	muscular dystrophy-dystroglycanopathy type B4		ISO	RGD:1320791	D	RGD:7240710	20180130	OMIM			
12166694	FKTN	fukutin	gene	DOID:0112379	muscular dystrophy-dystroglycanopathy type B4		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED	PMID:10545611|PMID:17044012|PMID:17597323|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19015585|PMID:19266496|PMID:19396839|PMID:20620061|PMID:20961758|PMID:22275357|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:25821721|PMID:26350204|PMID:26467025|PMID:27065010|PMID:28492532|PMID:28680109|PMID:29590070|PMID:30060766|PMID:35026164|PMID:35131284|PMID:37227348|PMID:9
12166694	FKTN	fukutin	gene	DOID:10534	stomach cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166694	FKTN	fukutin	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166694	FKTN	fukutin	gene	DOID:11724	limb-girdle muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy	PMID:25741868
12166694	FKTN	fukutin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Dilated Cardiomyopathy, Recessive | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:17597323|PMID:25741868|PMID:26633542|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20250311	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:26633542|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:4362	cervical cancer		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166694	FKTN	fukutin	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166694	FKTN	fukutin	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166694	FKTN	fukutin	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Expressive language delay	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9006181	Congenital Muscular Dystrophy with Central Nervous System Involvement		ISO	RGD:1320791	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement	PMID:14627679|PMID:17044012|PMID:17559086|PMID:17878207|PMID:18752264|PMID:19015585|PMID:21102627|PMID:23582336|PMID:24033266|PMID:24144914|PMID:25741868|PMID:26350204|PMID:26467025|PMID:28492532|PMID:29590070|PMID:35026164|PMID:37227348|PMID:9
12166694	FKTN	fukutin	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166694	FKTN	fukutin	gene	DOID:9007661	Dwarfism		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17576681|PMID:28492532|PMID:9536098
12166694	FKTN	fukutin	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166694	FKTN	fukutin	gene	DOID:93	language disorder		ISO	RGD:1320791	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Language disorder	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:24144914|PMID:25741868|PMID:27065010|PMID:28492532
12166694	FKTN	fukutin	gene	DOID:9884	muscular dystrophy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:25741868
12166694	FKTN	fukutin	gene	DOID:9997	peripartum cardiomyopathy		ISO	RGD:1320791	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Peripartum cardiomyopathy	PMID:25741868|PMID:28492532
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:7240710	20180130	OMIM			
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0070111	Niemann-Pick disease type A		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE A | ClinVar Annotator: match by term: Niemann-Pick disease, type A | ClinVar Annotator: match by term: SMPD1-related condition | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:10464620|PMID:12369017|PMID:12556236|PMID:12607113|PMID:12694237|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15612058|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:20111001|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21621718|PMID:22367733|PMID:22613662|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23724191|PMID:23871123|PMID:24033266|PMID:24448499|PMID:24643943|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25301364|PMID:25741868|PMID:25811928|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:26169695|PMID:26377108|PMID:2649910|PMID:26499107|PMID:26550340|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27865842|PMID:27884455|PMID:28259515|PMID:28475290|PMID:28492532|PMID:28590786|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29556840|PMID:29966168|PMID:30153451|PMID:30788890|PMID:30795770|PMID:30912297|PMID:31037088|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32036093|PMID:32071839|PMID:32280632|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33340101|PMID:33675270|PMID:33763395|PMID:33925997|PMID:33971920|PMID:34273913|PMID:34426522|PMID:34554397|PMID:34660203|PMID:34768550|PMID:34867278|PMID:35262230|PMID:35330074|PMID:35342016|PMID:35534800|PMID:35614200|PMID:35747619|PMID:35883096|PMID:36046391|PMID:36195244|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36907956|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38137339|PMID:38153678|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38933898|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:40343567|PMID:7762557|PMID:8053910|PMID:8225311|PMID:8401540|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:7240710	20180130	OMIM			
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0070112	Niemann-Pick disease type B		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: NIEMANN-PICK DISEASE, TYPE B | ClinVar Annotator: match by term: Niemann-Pick disease, type B | ClinVar Annotator: match by term: Sphingomyelin/cholesterol lipidosis	PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16264060|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18625664|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:21621718|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430512|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24448499|PMID:24718843|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25834946|PMID:25920558|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26084044|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26790753|PMID:26851525|PMID:26913189|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27243974|PMID:27338287|PMID:27349982|PMID:27435900|PMID:27659707|PMID:27725636|PMID:27884455|PMID:28492532|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:29485843|PMID:29966168|PMID:30153451|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32005694|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32778503|PMID:32860008|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33340101|PMID:33675270|PMID:33763395|PMID:33925997|PMID:33971920|PMID:34273913|PMID:34426522|PMID:34554397|PMID:34768550|PMID:34867278|PMID:35262230|PMID:35330074|PMID:35534800|PMID:35747619|PMID:35883096|PMID:36046391|PMID:36333862|PMID:36687457|PMID:36779112|PMID:36873248|PMID:36964991|PMID:37347058|PMID:37597066|PMID:38137339|PMID:38610036|PMID:38730490|PMID:38739391|PMID:38782304|PMID:38826802|PMID:38866761|PMID:38933898|PMID:38992987|PMID:39177062|PMID:39507854|PMID:40106870|PMID:40218154|PMID:7762557|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9042807|PMID:9266408|PMID:9536098
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0070113	Niemann-Pick disease type C1		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurovisceral storage disease with vertical supranuclear ophthalmoplegia | ClinVar Annotator: match by term: Niemann-Pick disease, type C1	PMID:12369017|PMID:15221801|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26499107|PMID:27243974|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:0110729	neuronal ceroid lipofuscinosis 6A		ISO	RGD:1349414	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 6A	PMID:12369017|PMID:15221801|PMID:15234149|PMID:15241805|PMID:19405096|PMID:23252888|PMID:23430884|PMID:24767253|PMID:25741868|PMID:26499107|PMID:28492532
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:15877209|PMID:23356216|PMID:25741868|PMID:28492532
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:10762	portal hypertension		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Portal hypertension	PMID:1618760|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27338287|PMID:28492532|PMID:34273913|PMID:8693491
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Acid sphingomyelinase deficiency | ClinVar Annotator: match by term: Niemann-Pick disease | ClinVar Annotator: match by term: SPHINGOMYELIN LIPIDOSIS | ClinVar Annotator: match by term: SPHINGOMYELINASE DEFICIENCY | ClinVar Annotator: match by term: Sphingomyelinase deficiency | ClinVar Annotator: match by term: acid sphingomyelinase deficiency	PMID:12369017|PMID:12556236|PMID:12607113|PMID:12712061|PMID:1391960|PMID:14681755|PMID:15221801|PMID:15234149|PMID:15241805|PMID:15545621|PMID:15557261|PMID:15653433|PMID:15877209|PMID:16010684|PMID:16151905|PMID:1618760|PMID:16199547|PMID:16434659|PMID:16472269|PMID:16642440|PMID:17011332|PMID:1718266|PMID:17360762|PMID:17576681|PMID:17876723|PMID:18052040|PMID:18815062|PMID:1885770|PMID:19050888|PMID:19405096|PMID:19411774|PMID:2023926|PMID:20386867|PMID:21098024|PMID:21228398|PMID:21454466|PMID:22796693|PMID:22818240|PMID:23188845|PMID:23252888|PMID:23356216|PMID:23412609|PMID:23415435|PMID:23418865|PMID:23420949|PMID:23430884|PMID:23430949|PMID:23618813|PMID:23871123|PMID:24033266|PMID:24767253|PMID:25144372|PMID:25741868|PMID:25834946|PMID:25933391|PMID:26046366|PMID:26049896|PMID:26169295|PMID:2649910|PMID:26499107|PMID:26851525|PMID:26981555|PMID:26990548|PMID:27238910|PMID:27338287|PMID:27349982|PMID:27659707|PMID:27725636|PMID:28492532|PMID:28600779|PMID:28703315|PMID:28801223|PMID:29140481|PMID:30788890|PMID:30795770|PMID:31122880|PMID:31139477|PMID:31160058|PMID:31576605|PMID:31941852|PMID:31965297|PMID:31980526|PMID:32071839|PMID:32292456|PMID:32375665|PMID:32714837|PMID:32870915|PMID:33083013|PMID:33100332|PMID:33333704|PMID:33675270|PMID:33763395|PMID:33971920|PMID:34273913|PMID:34554397|PMID:34867278|PMID:35747619|PMID:36046391|PMID:36333862|PMID:36779112|PMID:36873248|PMID:37347058|PMID:37597066|PMID:38730490|PMID:38739391|PMID:38992987|PMID:39507854|PMID:40106870|PMID:7762557|PMID:8053910|PMID:8407868|PMID:8664904|PMID:8680412|PMID:8693491|PMID:9266408|PMID:9536098
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:14504	Niemann-Pick disease	susceptibility	ISO	RGD:1349414	D	RGD:9068941	20200609	RGD		Niemann-Pick Disease, Type A, OMIM:257200, Type B, OMIM:607616;DNA:deletions, missense mutations: :multiple	PMID:12556236|REF_RGD_ID:1601336
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:1588	thrombocytopenia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thrombocytopenia	PMID:15221801|PMID:15241805|PMID:16010684|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:33083013|PMID:33971920|PMID:34273913
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:1909	melanoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:2355	anemia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Anemia	PMID:12369017|PMID:12607113|PMID:15221801|PMID:15241805|PMID:16010684|PMID:17011332|PMID:19405096|PMID:22796693|PMID:22818240|PMID:23415435|PMID:25741868|PMID:26499107|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913|PMID:8680412
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:3211	lysosomal storage disease		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lysosomal storage disease	PMID:15877209|PMID:17011332|PMID:19405096|PMID:23252888|PMID:25741868|PMID:27725636|PMID:28492532|PMID:32870915|PMID:38992987|PMID:39507854
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:4702	mongolian spot		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Mongolian blue spot	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:36333862
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:552	pneumonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Pneumonia	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:557	kidney disease		ISO	RGD:1349414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:26980705
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:630	genetic disease		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:23252888|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:25933391|PMID:26499107|PMID:26981555|PMID:28492532|PMID:28703315|PMID:34273913|PMID:36046391|PMID:37347058|PMID:9266408
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:893	Wilson disease	severity	ISO	RGD:1549719	D	RGD:9068941	20200609	RGD			PMID:17259995|REF_RGD_ID:1601345
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9000781	Cyanosis		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cyanosis	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9001276	Failure to Thrive		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Failure to thrive	PMID:12369017|PMID:15221801|PMID:15241805|PMID:16010684|PMID:19405096|PMID:22818240|PMID:25741868|PMID:27338287|PMID:27725636|PMID:28492532|PMID:28801223|PMID:31576605|PMID:31941852|PMID:33083013|PMID:33675270|PMID:33971920|PMID:34273913
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9001740	Blue Nevus		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Blue nevus	PMID:15221801|PMID:19411774|PMID:25741868|PMID:28492532|PMID:33675270|PMID:8664904
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9002720	Splenomegaly		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:12369017|PMID:16434659|PMID:17876723|PMID:18815062|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:34273913|PMID:36333862|PMID:39507854
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:12369017|PMID:15545621|PMID:17011332|PMID:19050888|PMID:23871123|PMID:24033266|PMID:25741868|PMID:27238910|PMID:28492532|PMID:31980526|PMID:33333704|PMID:33675270|PMID:34867278|PMID:38739391
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:37597066
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:1349414	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24951586
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9004942	Niemann-Pick Disease, Intermediate, Protracted Neurovisceral		ISO	RGD:1349414	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Niemann-pick disease, intermediate, protracted neurovisceral	PMID:14681755|PMID:15234149|PMID:15241805|PMID:15877209|PMID:17011332|PMID:17360762|PMID:23412609|PMID:23420949|PMID:23430949|PMID:25741868|PMID:26981555|PMID:28492532|PMID:28703315|PMID:31160058|PMID:36046391|PMID:37347058|PMID:7762557|PMID:9266408
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Hepatomegaly	PMID:22796693|PMID:23188845|PMID:25741868|PMID:27338287|PMID:28492532|PMID:31139477|PMID:34273913|PMID:37597066|PMID:39507854
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:33675270|PMID:36333862|PMID:8664904
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1349414	D	RGD:8554872	20260707	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia | ClinVar Annotator: match by term: Hypotonia	PMID:12369017|PMID:15221801|PMID:16434659|PMID:17876723|PMID:18815062|PMID:19411774|PMID:22796693|PMID:23188845|PMID:25741868|PMID:26981555|PMID:27338287|PMID:28492532|PMID:28600779|PMID:31139477|PMID:33675270|PMID:36333862|PMID:37597066|PMID:8664904
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1549719	D	RGD:9068941	20200609	RGD		protein:decreased expression:gastrocnemius	PMID:14983401|REF_RGD_ID:1601347
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349414	D	RGD:8554872	20260616	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:12369017|PMID:15221801|PMID:15241805|PMID:15545621|PMID:16010684|PMID:1618760|PMID:17011332|PMID:19050888|PMID:22818240|PMID:23871123|PMID:24033266|PMID:25741868|PMID:25834946|PMID:26049896|PMID:2649910|PMID:27238910|PMID:27338287|PMID:27725636|PMID:28492532|PMID:31941852|PMID:31980526|PMID:33083013|PMID:33333704|PMID:33675270|PMID:33971920|PMID:34273913|PMID:34867278|PMID:38739391|PMID:8693491
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:28492532
12166714	SMPD1	sphingomyelin phosphodiesterase 1	gene	DOID:9008811	Tachypnea		ISO	RGD:1349414	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Tachypnea	PMID:25741868|PMID:27338287|PMID:28492532|PMID:34273913|PMID:39507854
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:1324	lung cancer		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:3275	thymoma		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cholangiocarcinoma	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166724	TESPA1	thymocyte expressed, positive selection associated 1	gene	DOID:9119	acute myeloid leukemia		ISO	RGD:1605107	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Acute myeloid leukemia	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:10763	hypertension		ISO	RGD:1345576	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25397684
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:1324	lung cancer		ISO	RGD:1345576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:1622924	D	RGD:9068941	20230330	RGD		ApoE knockout mice	PMID:30529164|REF_RGD_ID:243048424
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:3275	thymoma		ISO	RGD:1345576	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1345576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma of the head and neck	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1345576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1345576	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:9000998	Brain Injuries		ISO	RGD:620854	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex	PMID:12503083|REF_RGD_ID:2317873
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:620854	D	RGD:9068941	20200609	RGD			PMID:16940436|REF_RGD_ID:2317872
12166745	DUSP5	dual specificity phosphatase 5	gene	DOID:9003139	Cardiac Fibrosis		ISO	RGD:620854	D	RGD:9068941	20230225	RGD		mRNA,protein:decreased expression:cardiac muscle tissue (rat)	PMID:27318893|REF_RGD_ID:156430318
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:10534	stomach cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:1115	sarcoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:5041	esophageal cancer		ISO	RGD:1353276	D	RGD:8554872	20260609	ClinVar		ClinVar Annotator: match by term: Malignant tumor of esophagus	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hepatocellular carcinoma	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166753	ZSCAN20	zinc finger and SCAN domain containing 20	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1353276	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166788	C2CD2L	C2CD2 like	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1321089	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166788	C2CD2L	C2CD2 like	gene	DOID:0080690	RASopathy		ISO	RGD:1321089	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:22742743|PMID:28492532
12166788	C2CD2L	C2CD2 like	gene	DOID:10534	stomach cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166788	C2CD2L	C2CD2 like	gene	DOID:1115	sarcoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166788	C2CD2L	C2CD2 like	gene	DOID:1324	lung cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166788	C2CD2L	C2CD2 like	gene	DOID:1909	melanoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166788	C2CD2L	C2CD2 like	gene	DOID:4362	cervical cancer		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166788	C2CD2L	C2CD2 like	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Clear cell carcinoma of kidney	
12166788	C2CD2L	C2CD2 like	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166788	C2CD2L	C2CD2 like	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166788	C2CD2L	C2CD2 like	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1321089	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:10534	stomach cancer		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastric cancer	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:1115	sarcoma		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Sarcoma	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:1324	lung cancer		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Lung cancer	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:3070	high grade glioma		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:3275	thymoma		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thymoma	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166812	CASKIN1	CASK interacting protein 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1351061	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166836	CLDN5	claudin 5	gene	DOID:0060496	respiratory allergy		ISO	RGD:68644	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30608172
12166836	CLDN5	claudin 5	gene	DOID:0060930	developmental dysplasia of the hip		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Developmental dysplasia of the hip	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:10907	microcephaly		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:36477332
12166836	CLDN5	claudin 5	gene	DOID:10908	hydrocephalus		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:10969	hemiplegia		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: hemiplegia	PMID:25741868|PMID:35714222|PMID:36477332
12166836	CLDN5	claudin 5	gene	DOID:1657	ventricular septal defect		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventricular septal defect	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:1790	malignant mesothelioma		ISO	RGD:68644	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
12166836	CLDN5	claudin 5	gene	DOID:1826	epilepsy		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:1827	generalized epilepsy		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Generalized-onset seizure	PMID:25741868|PMID:36477332
12166836	CLDN5	claudin 5	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:68431	D	RGD:9068941	20250313	RGD			PMID:28396190|REF_RGD_ID:597978119
12166836	CLDN5	claudin 5	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:68431	D	RGD:9068941	20200609	RGD			PMID:24842554|REF_RGD_ID:13204729
12166836	CLDN5	claudin 5	gene	DOID:480	movement disease		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Movement disorder	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:5419	schizophrenia		ISO	RGD:68644	D	RGD:9068941	20250724	RGD			PMID:15363474|REF_RGD_ID:1358511
12166836	CLDN5	claudin 5	gene	DOID:630	genetic disease		ISO	RGD:68644	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12166836	CLDN5	claudin 5	gene	DOID:8534	gastroesophageal reflux disease		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Gastroesophageal reflux	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:68644	D	RGD:8554872	20250722	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality | ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:36477332
12166836	CLDN5	claudin 5	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Hypotonia	PMID:25741868
12166836	CLDN5	claudin 5	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:68431	D	RGD:9068941	20200609	RGD		protein:decreased expression:colon:	PMID:19929946|REF_RGD_ID:2325127
12166836	CLDN5	claudin 5	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:36477332
12166836	CLDN5	claudin 5	gene	DOID:9009131	Ventriculomegaly		ISO	RGD:68644	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ventriculomegaly	PMID:25741868
12166842	LOC100856176	tubulin gamma-2 chain	gene	DOID:1909	melanoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Melanoma	
12166842	LOC100856176	tubulin gamma-2 chain	gene	DOID:234	colon adenocarcinoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Colon adenocarcinoma	
12166842	LOC100856176	tubulin gamma-2 chain	gene	DOID:4362	cervical cancer		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166842	LOC100856176	tubulin gamma-2 chain	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166842	LOC100856176	tubulin gamma-2 chain	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1316944	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12166861	DMRTA2	DMRT like family A2	gene	DOID:4362	cervical cancer		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166861	DMRTA2	DMRT like family A2	gene	DOID:9006971	Thyroid Carcinoma, Nonmedullary 1		ISO	RGD:1343593	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Thyroid cancer, nonmedullary, 1	
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:2855	hyperthyroxinemia		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:3346351
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:4362	cervical cancer		ISO	RGD:735269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:50	thyroid gland disease		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17105838
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:5746	ovarian serous cystadenocarcinoma		ISO	RGD:735269	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Ovarian serous cystadenocarcinoma	
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:655	inherited metabolic disorder		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17105838
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:9000651	Abnormal Thyroid Hormone Metabolism 2		ISO	RGD:735269	D	RGD:7240710	20220427	OMIM			
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:9000651	Abnormal Thyroid Hormone Metabolism 2		ISO	RGD:735269	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: THYROID HORMONE METABOLISM, ABNORMAL, 2	
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735269	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12166880	DIO1	iodothyronine deiodinase 1	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:2504	D	RGD:9068941	20200609	RGD			PMID:11765219|REF_RGD_ID:727335
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0001816	angiosarcoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17569031
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0002116	pterygium		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:conjunctiva:	PMID:15885787|REF_RGD_ID:8549762
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050185	erythema multiforme		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA:increased expression: :	PMID:7738351|REF_RGD_ID:7421578
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050387	nonpapillary renal cell carcinoma		ISO	RGD:731072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Nonpapillary renal cell carcinoma	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050589	inflammatory bowel disease	disease_progression	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:serum,colon:	PMID:23642997|REF_RGD_ID:11079180
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050700	cardiomyopathy		ISO	RGD:731073	D	RGD:9068941	20200609	RGD			PMID:10229225|REF_RGD_ID:1580578
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050852	limb ischemia	treatment	ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:23562340|REF_RGD_ID:7421600
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050866	oral squamous cell carcinoma		ISO	RGD:731072	D	RGD:9068941	20220811	RGD		protein:increased expression:oral mucosa (human)	PMID:26044849|REF_RGD_ID:153323290
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0050939	uterine corpus endometrial carcinoma		ISO	RGD:731072	D	RGD:8554872	20260519	ClinVar		ClinVar Annotator: match by term: Uterine corpus endometrial carcinoma	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0051061	stroke		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		protein:increased expression:brain:	PMID:11585245|REF_RGD_ID:7421577
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12399228
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:19623180|REF_RGD_ID:2315458
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060108	brain glioma		ISO	RGD:731072	D	RGD:9068941	20220310	RGD		protein:increased expression:brain (human)	PMID:33900414|REF_RGD_ID:151660356
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060181	ischemic colitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:15770733|REF_RGD_ID:1580570
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:731073	D	RGD:9068941	20220825	MouseDO		OMIM:105400	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:heart:	PMID:20631454|REF_RGD_ID:8551825
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060496	respiratory allergy		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30608172
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060643	primary sclerosing cholangitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:16388189|REF_RGD_ID:1580567
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0070658	alcohol-associated liver disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:24959006|REF_RGD_ID:15014784
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0080600	COVID-19	severity	ISO	RGD:731072	D	RGD:9068941	20200619	RGD		protein:increased expression:plasma (human)	PMID:31986264|REF_RGD_ID:30309212
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum:	PMID:25759146|REF_RGD_ID:11079181
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:19587327|REF_RGD_ID:8547957
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0111252	vestibular schwannomatosis		ISO	RGD:731073	D	RGD:9068941	20200609	RGD			PMID:20406973|REF_RGD_ID:8547955
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:0111253	neurofibromatosis 1		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:dermis	PMID:12930297|REF_RGD_ID:8547970
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10283	prostate cancer		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:19576799|REF_RGD_ID:2315459
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:eye:	PMID:18326689|REF_RGD_ID:7483592
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10591	pre-eclampsia		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:16517614|REF_RGD_ID:1580566
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10591	pre-eclampsia		ISO	RGD:731072	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:chorionic villus (human)	PMID:22840297|REF_RGD_ID:155631283
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15732116
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10652	Alzheimer's disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:15732116|REF_RGD_ID:1580571
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10754	otitis media		ISO	RGD:731073	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:middle ear,inner ear:	PMID:21271590|REF_RGD_ID:8547980
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10754	otitis media		ISO	RGD:731073	D	RGD:9068941	20200609	RGD		mRNA:increased expression:middle ear:	PMID:22104377|REF_RGD_ID:8547975
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10762	portal hypertension		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		protein:increased expression:mesentary	PMID:26627607|REF_RGD_ID:11528851
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10762	portal hypertension		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18416461
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10763	hypertension		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:16164572|REF_RGD_ID:1580573
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10763	hypertension	treatment	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms	PMID:20630084|REF_RGD_ID:8552374
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10808	gastric ulcer		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11353854
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10873	Kuhnt-Junius degeneration	treatment	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3025000(human)	PMID:23149126|REF_RGD_ID:7483627
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10873	Kuhnt-Junius degeneration	treatment	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs943080(human)	PMID:23745581|REF_RGD_ID:7483607
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:15178644|REF_RGD_ID:1580558
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10941	intracranial aneurysm		ISO	RGD:731072	D	RGD:9068941	20230202	RGD		mRNA,protein:increased expression:artery	PMID:32602008|REF_RGD_ID:155882593
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:10964	cholesteatoma of middle ear		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:altered expression:mucosa of the middle ear:	PMID:11078065|REF_RGD_ID:8547968
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11054	urinary bladder cancer		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA:increased expression:bladder	PMID:22895562|REF_RGD_ID:13605607
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:731073	D	RGD:9068941	20220825	MouseDO		OMIM:188400	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11382	corneal neovascularization		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9301478
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11382	corneal neovascularization		ISO	RGD:731073	D	RGD:9068941	20200609	RGD			PMID:22467572|REF_RGD_ID:7483619
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11382	corneal neovascularization		ISO	RGD:731073	D	RGD:9068941	20200609	RGD		associated with Herpes Simplex;protein:increased expression:cornea:	PMID:21325621|REF_RGD_ID:8547993
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11396	pulmonary edema		ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:16793871|REF_RGD_ID:1580547
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:114	heart disease		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16844662
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:15653207|REF_RGD_ID:8549491
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11713	diabetic angiopathy		ISO	RGD:731072	D	RGD:7240710	20190410	OMIM			
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:11713	diabetic angiopathy		ISO	RGD:731072	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1 | ClinVar Annotator: match by term: Microvascular complications of diabetes, susceptibility to, 1 | ClinVar Annotator: match by term: VEGFA-related condition	PMID:25741868|PMID:28492532
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:26627607|REF_RGD_ID:11528851
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12361	Graves' disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-2578A>C,-460T>C,405G>C(human)	PMID:22771446|REF_RGD_ID:7483621
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12510	retinal ischemia	treatment	ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:23537149|REF_RGD_ID:10755711
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12689	acoustic neuroma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:14660915|REF_RGD_ID:8547959
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:12716	newborn respiratory distress syndrome		ISO	RGD:731073	D	RGD:9068941	20220825	MouseDO		OMIM:267450	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13025	retinopathy of prematurity		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:subretinal fluid:	PMID:10751359|REF_RGD_ID:8548546
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13207	proliferative diabetic retinopathy		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; protein:increased expression:retina	PMID:16054135|REF_RGD_ID:2312348
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13241	Behcet's disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:15257411|REF_RGD_ID:8655578
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13378	Kawasaki disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:15470196|REF_RGD_ID:1580572
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13812	adhesions of uterus		ISO	RGD:619991	D	RGD:9068941	20210514	RGD		mRNA, protein:increased expression:endometrium	PMID:31596310|REF_RGD_ID:126925216
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:13949	interstitial cystitis		ISO	RGD:619991	D	RGD:9068941	20240829	RGD		protein:increased expression:urinary bladder:	PMID:38842512|REF_RGD_ID:407445927
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:14256	adult-onset Still's disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24387171|REF_RGD_ID:8548659
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1432	blindness		ISO	RGD:731073	D	RGD:9068941	20200609	RGD			PMID:23093773|REF_RGD_ID:11075234
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18494554
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1520	colon carcinoma	treatment	ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:18657413|REF_RGD_ID:15003195
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1584	acute chest syndrome	susceptibility	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:SNPs: : rs2010963, rs833068,rs3025020(human)	PMID:22925497|REF_RGD_ID:11075235
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1584	acute chest syndrome	susceptibility	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		associated with Anemia, Sickle Cell;DNA:polymorphism:583C&#8201;>&#8201;T (human)	PMID:25130874|REF_RGD_ID:11075233
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1682	congenital heart disease		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26073000
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1682	congenital heart disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:16636650|REF_RGD_ID:1580565
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1686	glaucoma		ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:23416159|REF_RGD_ID:7421614
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1686	glaucoma		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		protein:increased expression:retina:	PMID:18728749|REF_RGD_ID:7421595
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1687	neovascular glaucoma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, type 2; protein:increased expression:aqueous humor of eyeball:	PMID:9852717|REF_RGD_ID:8547996
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1724	duodenal ulcer		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		associated with Candidiasis;protein:decreased expression:Duodenum:	PMID:18622701|REF_RGD_ID:7483560
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1727	retinal vein occlusion		ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:21487926|REF_RGD_ID:5490120
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1727	retinal vein occlusion		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16680105
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251|PMID:26432044
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1824	status epilepticus		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17533168
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1875	impotence		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12002441
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1909	melanoma	disease_progression	ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:12946796|REF_RGD_ID:7421569
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1936	atherosclerosis		ISO	RGD:731072	D	RGD:8554872	20260602	ClinVar		ClinVar Annotator: match by term: Atherosclerosis, susceptibility to	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:731073	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2048	autoimmune hepatitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma:	PMID:26615570|REF_RGD_ID:11538286
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:219	colon cancer		ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:21268133|REF_RGD_ID:5135051
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2256	osteochondrodysplasia		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24235232
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2559	opiate dependence		ISO	RGD:731072	D	RGD:9068941	20240217	RGD		DNA:hypermethylation:exon:blood	PMID:29224006|REF_RGD_ID:401976280
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2596	larynx cancer	treatment	ISO	RGD:731072	D	RGD:9068941	20210514	RGD			PMID:20967863|REF_RGD_ID:126925200
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2738	pseudoxanthoma elasticum	susceptibility	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		DNA:haplotype: :	PMID:19483196|REF_RGD_ID:7483615
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2773	contact dermatitis		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25724174
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2841	asthma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11907124|PMID:15201500|PMID:19263519
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2841	asthma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:sputum	PMID:19178538|REF_RGD_ID:6892723
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:289	endometriosis		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:20056215|REF_RGD_ID:5135061
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2921	glomerulonephritis	treatment	ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:15195119|REF_RGD_ID:7421594
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:299	adenocarcinoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26432044
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:2999	granulosa cell tumor		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:19524286|REF_RGD_ID:2315463
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3021	acute kidney failure		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20943766|PMID:22808199
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		mRNA:protein:skin:	PMID:7876550|REF_RGD_ID:7421586
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA:protein:skin:	PMID:7876550|REF_RGD_ID:7421586
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3068	glioblastoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16356833
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3071	gliosarcoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16533777
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:lung	PMID:15681497|REF_RGD_ID:5684420
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3083	chronic obstructive pulmonary disease	treatment	ISO	RGD:619991	D	RGD:9068941	20200609	RGD			PMID:20705587|REF_RGD_ID:10755705
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3087	gingivitis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		associated with Scleroderma, Systemic;protein:decreased expression:gingiva:	PMID:18206400|REF_RGD_ID:7421591
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3179	inverted papilloma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:inferior nasal concha:	PMID:12541477|REF_RGD_ID:8551779
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3247	rhabdomyosarcoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16116481
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:16410746|REF_RGD_ID:1580568
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17533168
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3347	osteosarcoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20158913
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3393	coronary artery disease		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14668888|PMID:15937083
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3393	coronary artery disease		ISO	RGD:731072	D	RGD:9068941	20200609	RGD			PMID:15754021|REF_RGD_ID:1580569
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3512	neurofibrosarcoma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral nerve	PMID:10554031|REF_RGD_ID:8552377
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3525	middle cerebral artery infarction		ISO	RGD:619991	D	RGD:9068941	20230504	RGD		mRNA,protein:increased expression:cerebral cortex (rat)	PMID:27035554|REF_RGD_ID:329337377
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:619991	D	RGD:9068941	20230610	RGD			PMID:29497380|PMID:30531687|REF_RGD_ID:329849008|REF_RGD_ID:40925919
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17481528
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:619991	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung:	PMID:15879288|REF_RGD_ID:7421593
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731072	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15956251
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:731072	D	RGD:9068941	20210514	RGD		protein:increased expression:plasma	PMID:21481963|REF_RGD_ID:126925199
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:3908	lung non-small cell carcinoma	disease_progression	ISO	RGD:731072	D	RGD:9068941	20220428	RGD		protein:inctreased expression:lung (human)	PMID:22977534|REF_RGD_ID:152023747
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:418	systemic scleroderma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:skin:	PMID:21636803|REF_RGD_ID:7421579
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:418	systemic scleroderma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:bone marrow:	PMID:22271757|REF_RGD_ID:8551843
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:418	systemic scleroderma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:serum:	PMID:24387171|REF_RGD_ID:8548659
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:418	systemic scleroderma		ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:16426919|REF_RGD_ID:5684416
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:4362	cervical cancer		ISO	RGD:731072	D	RGD:8554872	20260811	ClinVar		ClinVar Annotator: match by term: Cervical cancer	
12166888	VEGFA	vascular endothelial growth factor A	gene	DOID:4440	seminoma	disease_progression	ISO	RGD:731072	D	RGD:9068941	20200609	RGD		protein:increased expression:testis	PMID:19288744|REF_RGD_ID:2315467
12166888	VEGFA	vascular end
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